vep.functions.tsv

HPSE2	4	Severe distention of the kidney with dilation of the renal pelvis and calices.
PDZD7	2	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
RBM20	1	A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
DCLRE1C	5	An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.
AKR1C2	6	A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale
ANK3	2	Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself.
CTNNA3	4	Block of conduction of electrical impulses along the Bundle of His or along one of its bundle branches." [DDD
MYPN	4	A defect of the chest wall characterized by a depression of the sternum, giving the chest (\"pectus\") a caved-in (\"excavatum\") appearance.
CDH23	3	An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.
PLAU	1	Hemorrhage occurring within a joint.
KAT6B	4	The congenital absence of the thyroid gland.
KCNMA1	1	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
SFTPA2	7	A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.
ANXA11	6	A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.
TUBB8	2	Failure of oocytes to proceed through the stages of meiosis with stoppage at the first metaphase stage." [PMID
TRPC6	1	A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.
ATM	4	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
APOA5	2	Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins.
TREH	1	Abnormally increased frequency of loose or watery bowel movements.
VPS11	4	Head circumference below 2 standard deviations below the mean for age and gender." [pmid
MUC5B	7	A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.
OTOG	5	A decreased magnitude of the sensory perception of sound.
TH	3	A type of tremors that is triggered by holding a limb in a fixed position.
ANO5	2	Pain in muscle.
CDKN1C	8	Severe distention of the kidney with dilation of the renal pelvis and calices.
SLC22A18	2	The presence of a carcinoma of the breast.
PDHX	2	A defect of the chest wall characterized by a depression of the sternum, giving the chest (\"pectus\") a caved-in (\"excavatum\") appearance.
CREB3L1	1	Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age." [DDD
ZNF408	2	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
RAPSN	2	Developmental hypoplasia of the intestine.
LRRC56	4	Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
TMEM216	5	The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective)." [pmid
SMPD1	9	An abnormality of histiocytes, in which the cells take on a sea blue appearance due to abnormally increased lipid content. Histiocytes are a type of macrophage. Sea-blue histiocytes are typically large macrophages from 20 to 60 micrometers in diameter with a single eccentric nucleus whose cytoplasm if packed with sea-blue or blue-green granules when stained with Wright-Giemsa.
CAPN1	3	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
LTBP3	3	Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
DEAF1	5	Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
MYO7A	1	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
ALG8	1	Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes)." [pmid
PNPLA2	2	A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.
TYR	1	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
MRE11	1	An abnormally increased sensitivity to the effects of ionizing radiation.
NR1H4	5	Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.
ASCL1	1	Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum.
ISCU	7	A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
ATXN2	3	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
OAS1	3	A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.
ACADS	2	A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
HNF1A	1	An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose.
ORAI1	1	A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.
WDR66	7	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
ATP6V0A2	1	A defect of the chest wall characterized by a depression of the sternum, giving the chest (\"pectus\") a caved-in (\"excavatum\") appearance.
ANKLE2	4	The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective)." [pmid
PLCZ1	14	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
DDX11	3	A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.
VDR	3	Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).
KRT81	1	Abnormality in the process of thought including the ability to process information.
KRT6B	1	Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.
KRT6C	2	Abnormal thickening of the skin of the palms of the hands and the soles of the feet.
KRT1	1	Abnormality of the nail.
KRT3	3	An abnormality of the cornea that is characterized by opacity of one or parts of the cornea.
KRT4	1	A thickened white patch on the oral mucosa that cannot be rubbed off.
ATN1	3	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
EMG1	3	Head circumference below 2 standard deviations below the mean for age and gender." [pmid
OTOGL	1	A decreased magnitude of the sensory perception of sound.
PTPRQ	1	A decreased magnitude of the sensory perception of sound.
A2ML1	3	A defect of the chest wall characterized by a depression of the sternum, giving the chest (\"pectus\") a caved-in (\"excavatum\") appearance.
PHC1	2	An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones.
A2M	5	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
WNK1	1	An abnormality of the knee joint or surrounding structures.
GJB2	4	Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles).
SGCG	2	A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.
FLT3	3	A form of leukemia characterized by overproduction of an early myeloid cell.
B3GLCT	1	A defect of the chest wall characterized by a depression of the sternum, giving the chest (\"pectus\") a caved-in (\"excavatum\") appearance.
FREM2	2	A malformation of the auricle of the ear.
RCBTB1	4	Replacement of normal lung tissues by fibroblasts and collagen." [DDD
ATP7B	2	Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid." []
INF2	7	A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.
ADSSL1	2	Reduced strength of the distal musculature of the arms.
ZBTB42	2	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
PACS2	3	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
TRAC	2	Increased susceptibility to infections.
MYH6	1	A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
TGM1	1	Abnormality in the process of thought including the ability to process information.
DNAAF2	2	An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
DDHD1	10	Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.
IRF2BPL	1	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
ATXN3	62	An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects.
BCL11B	8	An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.
LINS1	1	A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age." [DDD
PWRN1	1	Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.
OCA2	2	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
HERC2	1	A markedly blue coloration of the iris.
TRPM1	5	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
NUTM1	7	A subtype of ductal pancreatic carcinoma that is thought to originate from squamous metaplasia of pancreatic ductal epithelium.
EIF2AK4	2	A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.
KNL1	2	Increased density/number and/or increased diameter of eyebrow hairs." [pmid
NDUFAF1	1	A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
CATSPER2	2	An abnormal reduction in the mobility of ejaculated sperm.
WDR72	1	A form of hypomineralization of enamel characterized by a chalky appearance of the enamel with orange, brown, or white color.
VPS13C	4	Functional neurological abnormalities related to dysfunction of the pyramidal tract.
HERC1	3	Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes)." [pmid
KBTBD13	1	A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
NR2E3	2	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
SCAPER	5	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
WDR73	2	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
ALPK3	1	The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.
AGBL1	3	An abnormality of the cornea that is characterized by opacity of one or parts of the cornea.
ACAN	5	A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
FANCI	7	A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.
POLG	2	Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones.
MESP2	1	An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
NPRL3	3	A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons." [PMID
COQ7	2	An increased amount of creatinine in the blood.
PKD1	2	The presence of multiple diverticula of the colon.
RPGRIP1L	2	The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective)." [pmid
CNGB1	4	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
BEAN1	2	A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.
LCAT	1	Increased levels of protein in the urine.
HYDIN	2	Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
PMFBP1	3	An abnormal reduction in the mobility of ejaculated sperm.
ADAMTS18	1	Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae." [pmid
WWOX	1	Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms.
JPH3	2	Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.
CYBA	1	Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy." []
CTU2	6	A persistent midline depression of the skin over the fat pad of the chin." [pmid
PIEZO1	4	A defect of the chest wall characterized by a depression of the sternum, giving the chest (\"pectus\") a caved-in (\"excavatum\") appearance.
MYH8	1	Difficulty in swallowing.
DNAH9	1	Absence of any measurable level of sperm in his semen.
WDR81	3	Over curvature of the thoracic region, leading to a round back or if sever to a hump.
RAI1	2	Head circumference below 2 standard deviations below the mean for age and gender." [pmid
MYO15A	1	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
DPH1	5	A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.
SLC46A1	2	A lack or loss of appetite for food (as a medical condition).
TRPV3	2	Loss of hair from the head or body.
ERBB2	6	A cancer arising in any part of the stomach.
KRT10	4	Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.
KRT13	1	Abnormal keratinization of the epidermal stratum coreum (horny layer) with increased keratin formation, preservation of the nuclei in the superficial cells, and absence of the stratum granulosum." []
JUP	10	Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.
COASY	2	Abnormality in the process of thought including the ability to process information.
BRCA1	2	A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.
CCDC103	1	A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.
WNT3	1	Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline.
HOXB1	1	Difficulty in swallowing.
GP1BA	3	Hemorrhage affecting the gastrointestinal tract.
NLRP1	8	Skin characterized by the lack of natural or normal moisture.
RNF43	3	A tumor (abnormal growth of tissue) of the biliary system.
PITPNM3	2	Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery." [DDD
GEMIN4	6	Difficulty in swallowing.
KIAA0753	10	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
TSEN54	2	A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.
ITGB4	8	Severe distention of the kidney with dilation of the renal pelvis and calices.
CCDC40	1	Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
RNF213	3	An increase in size of the ventricular system of the brain.
ASPSCR1	3	A type of soft tissue sarcoma with a histological appearance reminiscent of alveoli because of its reticulated fibrous stroma enclosing groups of sarcoma cells, which resemble epithelial cells and are enclosed in alveoli walled with connective tissue.
ZNF750	1	Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk.
PIEZO2	2	A persistent midline depression of the skin over the fat pad of the chin." [pmid
GNAL	1	Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head.
GREB1L	2	Severe distention of the kidney with dilation of the renal pelvis and calices.
DSC3	4	Congenital lack of hair growth.
DSG2	2	A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
DTNA	5	Underdevelopment of the left side of the heart. May include atresia of the aortic or mitral orifice and hypoplasia of the ascending aorta.
MOCOS	1	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
TGIF1	1	Decreased width of the bony bridge of the nose." [pmid
SETBP1	1	Underdevelopment of the nipple.
EPG5	2	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
LOXHD1	1	A bilateral form of sensorineural hearing impairment.
PIGN	4	Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.
TNFRSF11A	2	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
SERPINB8	4	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
RTTN	1	Head circumference below 2 standard deviations below the mean for age and gender." [pmid
LAMA1	1	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
DOCK6	1	A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
PRKCSH	20	Hemorrhage affecting the gastrointestinal tract.
ACP5	11	An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
STK11	1	A tumor of the uterine cervix." []
CACNA1A	6	Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body.
CPAMD8	1	Presence of iris pigment epithelium on the anterior surface of the iris." []
PLVAP	2	Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis.
GDF1	2	Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline.
RGS9BP	1	Difficulty in seeing moving objects." [pmid
SLC7A9	3	An increased concentration of ornithine in the urine.
GIPC3	1	A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech.
KMT2B	5	Abnormality in the process of thought including the ability to process information.
NPHS1	1	A phenotypic abnormality that is present at birth.
PLEKHG2	2	Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes.
PRX	3	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
LTBP4	3	An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.
BCKDHA	1	Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
DMPK	3	A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
CCDC114	1	A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.
GP6	2	Onset of signs or symptoms of disease between 28 days to one year of life.
AURKC	1	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
AGL	9	Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.
COL11A1	1	The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.
GPSM2	5	Underdevelopment of the corpus callosum.
MASP2	1	An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins." [PMID
AMPD1	3	An abnormally increased tendency towards muscle fatigue induced by physical exercise.
IGSF3	4	Inflammation of the conjunctiva.
MTHFR	6	Head circumference below 2 standard deviations below the mean for age and gender." [pmid
TCHH	2	Uncombable hair.
FLG	11	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
FLG2	1	Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.
LOR	1	Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.
GBA	1	A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens .
FCGR3A	5	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
FCGR2C	2	Hemorrhage affecting the gastrointestinal tract.
PIGC	2	A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age." [DDD
PADI6	2	It is estimated that about 40-70 percent of human embryos produced in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) are viable embryos, whereas others arrest at different early stages of development. The phenotype of preimplantation lethality is inferred if IVF and ICSI cycles fail because all of an individual's embryos are arrested at early stages of development." [PMID
TOR1AIP1	1	Reduced strength of muscles.
RNASEL	2	A cancer of the prostate.
PRG4	22	A sensation of stiffness in the joints that occurs following waking up in the morning.
PTPRC	1	A combined immunodeficiency primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems.
CACNA1S	4	Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.
KISS1	1	A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
CR2	3	Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
SYT14	6	Difficulty in swallowing.
HHAT	13	Congenital underdevelopment of the iris.
HSPG2	6	A defect of the chest wall characterized by a depression of the sternum, giving the chest (\"pectus\") a caved-in (\"excavatum\") appearance.
EPHX1	5	Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.
COG2	3	Underdevelopment of the corpus callosum.
AGT	1	An abnormality of the urinary system.
ACTN2	2	An abrupt loss of heart function." []
FMN2	13	A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age." [DDD
GRHL3	4	Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
MACF1	1	Difficulty in swallowing.
STIL	8	An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones.
NPHP4	12	A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.
ROR1	1	Onset of signs or symptoms of disease between 28 days to one year of life.
LEPR	3	A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as will as in fasting and postprandial serum insulin levels.
PER3	4	Frequent feelings of being down, miserable, and/or hopeless; difficulty recovering from such moods; pessimism about the future; pervasive shame; feeling of inferior self-worth; thoughts of suicide and suicidal behavior.
CLCA4	1	Replacement of normal lung tissues by fibroblasts and collagen." [DDD
HFM1	3	Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months." [pmid
H6PD	5	Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).
ABCA4	1	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
AGRN	3	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
MGME1	6	A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
SEC23B	1	A defect of the chest wall characterized by a depression of the sternum, giving the chest (\"pectus\") a caved-in (\"excavatum\") appearance.
KIZ	5	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
ABHD12	3	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
SLC17A9	1	A clonal disorder of keratinization with one or multiple atrophic patches surrounded by a clinically and histologically distinctive hyperkeratotic ridgelike border called the cornoid lamella.
BMP2	2	A defect of the chest wall characterized by a depression of the sternum, giving the chest (\"pectus\") a caved-in (\"excavatum\") appearance.
SLC52A3	2	The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective)." [pmid
PLCB4	3	The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective)." [pmid
TMPRSS15	1	Abnormally increased frequency of loose or watery bowel movements.
SON	4	Regional increase in the width (height) of the lateral eyebrow.
ITGB2	2	Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.
COL18A1	9	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
COL6A2	3	A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
LSS	1	Reduced or lacking hair growth of the scalp.
TXNRD2	7	A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s)." [Eurenomics
SCARF2	16	A defect of the chest wall characterized by a depression of the sternum, giving the chest (\"pectus\") a caved-in (\"excavatum\") appearance.
MYO18B	6	Increased volume and globular shape of the anteroinferior aspect of the nose." [pmid
HPS4	5	Replacement of normal lung tissues by fibroblasts and collagen." [DDD
NEFH	2	A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.
TXN2	1	Head circumference below 2 standard deviations below the mean for age and gender." [pmid
TMPRSS6	5	A reduced concentration of copper in the blood.
MLC1	6	Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia)." [COST
SBF1	2	Partial or complete wasting (loss) of brain tissue that was once present.
ARSA	5	Absence of wakefulness and conscience, but (in contrast to coma) with involuntary opening of the eyes and movements (such as teeth grinding, yawning, or thrashing of the extremities)." []
CKAP2L	2	Presence of more than two nipples.
LPIN1	1	Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia).
GYPC	1	The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear.
TPO	5	Increased length and width of the tongue." [pmid
NEB	17	Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs).
IFIH1	1	Head circumference below 2 standard deviations below the mean for age and gender." [pmid
TTC21B	1	A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.
LRP2	1	Congenital underdevelopment of the iris.
ITGA6	4	Severe distention of the kidney with dilation of the renal pelvis and calices.
PDE11A	6	A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
TTN	44	Reduced strength of the distal musculature of the arms.
FSIP2	2	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
PMS1	1	Hemorrhage affecting the gastrointestinal tract.
HIBCH	3	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
PIKFYVE	2	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
CPS1	2	Alkalosis due to excess loss of carbon dioxide from the body.
ERBB4	2	A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.
APOB	3	An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.
BARD1	4	A tumor (abnormal growth of tissue) of the pancreas.
ABCA12	2	Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine.
FN1	20	Hemorrhage into the parenchyma of the brain.
SLC11A1	1	A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.
OBSL1	7	An anomaly of the sternum, also known as the breastbone.
COL4A3	2	A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.
ARMC9	2	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
GIGYF2	4	A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps." [PMID
COL6A3	6	A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
TRAF3IP1	1	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
GPR35	5	A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver.
KIF1A	5	An abnormality of the knee joint or surrounding structures.
AGXT	1	A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.
HADHA	1	A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
HADHB	2	A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
DRC1	2	Collapse of part of a lung associated with absence of inflation (air) of that part.
OTOF	2	Lack of measurable response to stimulation of auditory evoked potentials.
TRAPPC12	3	Difficulty in swallowing.
CYP1B1	1	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
SOX11	1	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
FAM161A	1	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
ATP6V1B1	1	Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis.
ALMS1	4	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
EIF2AK3	2	Abnormal flatness (decreased height) of epiphyses.
KIDINS220	1	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
ADRA2B	3	Seizures of which initial semiology indicates, or is consistent with, initial activation of only part of one cerebral hemisphere.
FANCD2	6	A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.
CFAP44	4	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
DZIP1L	2	A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.
GYG1	3	Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.
SI	1	Abnormally increased frequency of loose or watery bowel movements.
PLCD1	1	An abnormality of the fingernails.
DLEC1	3	A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.
TRAK1	3	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
SUMF1	3	Head circumference below 2 standard deviations below the mean for age and gender." [pmid
TMIE	1	A decreased magnitude of the sensory perception of sound.
NBEAL2	1	Decreased quantity of von Willebrand factor." [DDD
COL7A1	2	Inflammation of the conjunctiva.
GPX1	9	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
GLYCTK	1	Head circumference below 2 standard deviations below the mean for age and gender." [pmid
FLNB	6	A defect of the chest wall characterized by a depression of the sternum, giving the chest (\"pectus\") a caved-in (\"excavatum\") appearance.
ATXN7	7	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
CPOX	1	Pain in muscle.
IL17RC	1	A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.
FGFRL1	5	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
SLC39A8	1	Increased susceptibility to infections.
CISD2	1	Hemorrhage affecting the gastrointestinal tract.
TET2	2	Mild fever that does not exceed 38.5 degree centrigrade.
LRIT3	1	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
FAT4	5	The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.
LRBA	2	Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
CC2D2A	4	An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.
VEGFC	1	Increased susceptibility to erysipelas, as manifested by a medical history of repeated episodes of erysipelas, which is a superficial infection of the skin, typically involving the lymphatic system.
FRG1	3	FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent." [NIHR
HTT	9	Gliosis is the focal proliferation of glial cells in the central nervous system.
ZNF141	1	Increased width of the phalanges of the 5th finger.
FIP1L1	16	Decreased concentration of fibrinogen in the blood.
EVC	4	A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12.
AFP	2	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
CPLX1	1	The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective)." [pmid
FRAS1	2	A malformation of the auricle of the ear.
DSPP	8	Developmental dysplasia of dentin.
DMP1	2	Abnormal structure or form of trabecular bone.
CEP120	3	An anomaly of the sternum, also known as the breastbone.
TMEM173	2	Pain in muscle.
SRA1	1	Reduced volume of the testicle (the male gonad).
DIAPH1	4	Underdevelopment of the corpus callosum.
PPP2R2B	1	A type of tremors that is triggered by holding a limb in a fixed position.
TCOF1	14	Narrowing of a tear duct (lacrimal duct).
FAT2	1	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
CYFIP2	8	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
NSD1	5	Head circumference below 2 standard deviations below the mean for age and gender." [pmid
SLC45A2	2	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
AMACR	3	Impairment of bile flow due to obstruction in the small bile ducts within the liver.
C7	2	An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins." [PMID
GHR	11	A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
MAP3K1	4	A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
PDE4D	1	Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
ZSWIM6	2	Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms.
ARSB	3	An abnormal accentuation of the inward curvature of the spine in the lumbar region.
MTRR	3	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
MSH3	2	A cancer arising in any part of the stomach.
ERAP1	3	Pain in muscle.
CHD1	3	Increased density/number and/or increased diameter of eyebrow hairs." [pmid
GCNT2	1	An abnormality of an erythrocyte cell surface molecule.
AK9	4	A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.
LAMA4	5	A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
TSPYL1	1	A slower than normal heart rate (in adults, slower than 60 beats per minute).
TRDN	2	An abrupt loss of heart function." []
AHI1	5	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
REPS1	2	Difficulty in swallowing.
ARID1B	4	The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective)." [pmid
RSPH3	6	Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
ACAT2	3	A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age." [DDD
ATXN1	6	An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects.
TBP	5	Gliosis is the focal proliferation of glial cells in the central nervous system.
SERPINB6	1	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
CDSN	2	Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.
HLA-B	6	Pain in muscle.
CYP21A2	2	A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s)." [Eurenomics
TNXB	2	Pain in muscle.
HLA-DRA	1	Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.
HLA-DRB1	23	Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.
HLA-DQA1	2	A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus.
TAP2	2	Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
COL11A2	1	A defect of the chest wall characterized by a depression of the sternum, giving the chest (\"pectus\") a caved-in (\"excavatum\") appearance.
PEX6	3	An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.
DST	4	A slower than normal heart rate (in adults, slower than 60 beats per minute).
F13A1	1	Hemorrhage into the parenchyma of the brain.
EYS	4	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
RREB1	4	Pain in muscle.
KHDC3L	1	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
COL12A1	2	A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
MYO6	5	An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.
RELN	2	Head circumference below 2 standard deviations below the mean for age and gender." [pmid
PAX4	1	An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose.
FLNC	2	Reduced strength of the distal musculature of the arms.
IRF5	14	A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position.
PODXL	2	Partial or complete wasting (loss) of brain tissue that was once present.
KIAA1549	2	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
CLCN1	1	Difficulty in swallowing.
NOBOX	1	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
ASB10	1	An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disc. The optic disc has an orange-pink rim with a pale centre (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefoy may indicate a decrease in the quantity of healthy neuroretinal cells.
KMT2C	13	Increased density/number and/or increased diameter of eyebrow hairs." [pmid
MNX1	1	Presence of a bifid sacral bone.
LFNG	1	Head circumference below 2 standard deviations below the mean for age and gender." [pmid
FAM20C	1	A defect of the chest wall characterized by a depression of the sternum, giving the chest (\"pectus\") a caved-in (\"excavatum\") appearance.
ANLN	6	A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.
POU6F2	2	Tumor of the lung.
AP5Z1	1	Abnormality in the process of thought including the ability to process information.
PMS2	13	A tumor (abnormal growth of tissue) of the skeleton.
CD36	12	Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998).
PCLO	2	Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms.
CFAP69	3	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
AKAP9	4	Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.
VPS13B	1	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
RRM2B	1	Pain in muscle.
FZD6	1	Thickened nails without deformity.
RP1L1	3	Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident.
NDUFB9	1	An abnormality of the mitochondria in muscle tissue.
JRK	1	An abnormality in voluntary or involuntary eye movements or their control.
MAFA	1	Glaucoma which forms during the early years of a child's life is called developmental or congenital glaucoma." []
FAM83H	2	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
PLEC	16	The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective)." [pmid
OPLAH	2	Decreased activity of the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate." [PMID
RECQL4	1	Absence of a digit or of one or more phalanges of a finger.
PDGFRL	1	A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver.
ARHGEF10	6	Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later.
LPL	1	Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin.
SFTPC	6	A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.
RP1	1	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
MCPH1	7	An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones.
TMEM70	1	Head circumference below 2 standard deviations below the mean for age and gender." [pmid
ZFHX4	1	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
FOXE1	1	The congenital absence of the thyroid gland.
ALDOB	2	Hemorrhage affecting the gastrointestinal tract.
FKTN	5	A defect of the chest wall characterized by a depression of the sternum, giving the chest (\"pectus\") a caved-in (\"excavatum\") appearance.
CDK5RAP2	3	An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones.
CEL	4	Increased body weight with a body mass index of 25-29.9 kg per square meter." []
COL5A1	2	A defect of the chest wall characterized by a depression of the sternum, giving the chest (\"pectus\") a caved-in (\"excavatum\") appearance.
AGPAT2	2	A slower than normal heart rate (in adults, slower than 60 beats per minute).
CACNA1B	7	Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later.
SMARCA2	8	Head circumference below 2 standard deviations below the mean for age and gender." [pmid
DOCK8	6	Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body.
DDX58	1	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
TPM2	2	Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs).
EXOSC3	1	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
AGTPBP1	4	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
PTCH1	2	A defect of the chest wall characterized by a depression of the sternum, giving the chest (\"pectus\") a caved-in (\"excavatum\") appearance.
ERCC6L2	2	A reduction in erythrocytes volume or hemoglobin concentration.
COL4A6	2	A decreased magnitude of the sensory perception of sound.
GRIA3	1	Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones.
RBMX	6	Increased volume and globular shape of the anteroinferior aspect of the nose." [pmid
GPR101	1	Pain during menstruation that interferes with daily activities." [PMID
CSF2RA	8	A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.
DMD	5	A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
SHROOM4	2	A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.
EDA2R	4	A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone.
AR	6	Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later.
ATP7A	3	A defect of the chest wall characterized by a depression of the sternum, giving the chest (\"pectus\") a caved-in (\"excavatum\") appearance.