Human (86 sources):
Abnormal cardiovascular system morphology,
Abnormal electroretinogram,
Abnormal pattern of respiration,
Abnormal renal medulla morphology,
Abnormal speech pattern,
Abnormality of bone mineral density,
Abnormality of retinal pigmentation,
Abnormality of the hypothalamus-pituitary axis,
Aganglionic megacolon,
Agenesis of corpus callosum,
Anemia,
Anteverted nares,
Apnea,
Ataxia,
Biparietal narrowing,
Cataract,
Cerebellar vermis hypoplasia,
Chronic kidney disease,
Cleft palate,
Cognitive impairment,
Cone-shaped epiphysis,
Congenital hepatic fibrosis,
Cryptorchidism,
Delayed gross motor development,
Downslanted palpebral fissures,
Elongated superior cerebellar peduncle,
Encephalocele,
Feeding difficulties,
Finger syndactyly,
Gait disturbance,
Generalized hirsutism,
Generalized hypotonia,
Global developmental delay,
Growth delay,
Hand polydactyly,
Hearing impairment,
Hepatic fibrosis,
Highly arched eyebrow,
Hydrocephalus,
Hypertension,
Hypogonadism,
Hypometric saccades,
Hypoplasia of penis,
Hypoplasia of the ovary,
Hyposthenuria,
Hypotonia,
Intellectual disability,
Iris coloboma,
Long face,
Medial flaring of the eyebrow,
Molar tooth sign on MRI,
Multicystic kidney dysplasia,
Nephronophthisis,
Nephropathy,
Nephrotic syndrome,
Nystagmus,
Obesity,
Oculomotor apraxia,
Orofacial cleft,
Pigmentary retinopathy,
Polydipsia,
Polymicrogyria,
Polyuria,
Postaxial hand polydactyly,
Premature ovarian insufficiency,
Progressive visual loss,
Prominent nasal bridge,
Ptosis,
Renal corticomedullary cysts,
Renal insufficiency,
Renal tubular atrophy,
Retinal dystrophy,
Rod-cone dystrophy,
Scoliosis,
Seizure,
Short neck,
Short stature,
Skeletal muscle atrophy,
Stage 5 chronic kidney disease,
Strabismus,
Thickened superior cerebellar peduncle,
Tremor,
Tubular basement membrane disintegration,
Tubulointerstitial fibrosis,
Visual impairment,
obsolete Low-set, posteriorly rotated ears
[+]
|
These phenotypes are associated with this gene with a has phenotype relation via Monarch.