Human (77 sources):
Abnormal cardiovascular system morphology,
Abnormal electroretinogram,
Abnormal facial shape,
Abnormal form of the vertebral bodies,
Abnormal pattern of respiration,
Abnormal retinal vascular morphology,
Abnormal testis morphology,
Abnormality of fundus pigmentation,
Abnormality of neuronal migration,
Abnormality of retinal pigmentation,
Abnormality of the hypothalamus-pituitary axis,
Aganglionic megacolon,
Anteverted nares,
Aplasia/Hypoplasia of the corpus callosum,
Apnea,
Asteroid hyalosis,
Ataxia,
Atypical scarring of skin,
Biparietal narrowing,
Blindness,
Cataract,
Cerebellar vermis hypoplasia,
Conductive hearing impairment,
Constriction of peripheral visual field,
Cystoid macular edema,
Depressed nasal bridge,
Encephalocele,
Episodic tachypnea,
Feeding difficulties in infancy,
Foot polydactyly,
Gait disturbance,
Generalized hypotonia,
Glaucoma,
Global developmental delay,
Hand polydactyly,
Highly arched eyebrow,
Hydrocephalus,
Hydronephrosis,
Hyperinsulinemia,
Hyperreflexia,
Hypogonadism,
Hypoplasia of penis,
Hypotonia,
Intellectual disability,
Iris coloboma,
Keratoconus,
Long face,
Low-set ears,
Multicystic kidney dysplasia,
Nyctalopia,
Nystagmus,
Obesity,
Oculomotor apraxia,
Ophthalmoplegia,
Optic atrophy,
Orofacial cleft,
Photophobia,
Polymicrogyria,
Progressive night blindness,
Progressive visual loss,
Prominent nasal bridge,
Ptosis,
Recurrent urinary tract infections,
Reduced visual acuity,
Rod-cone dystrophy,
Scoliosis,
Seizure,
Sensorineural hearing impairment,
Situs inversus totalis,
Strabismus,
Subcapsular cataract,
Telecanthus,
Tremor,
Type II diabetes mellitus,
Visual impairment,
Vitreous floaters,
Wide nasal bridge
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