Human (87 sources):
Abnormal cardiovascular system morphology,
Abnormal electroretinogram,
Abnormal form of the vertebral bodies,
Abnormality of fundus pigmentation,
Abnormality of neuronal migration,
Abnormality of retinal pigmentation,
Abnormality of the hypothalamus-pituitary axis,
Abnormal pattern of respiration,
Abnormal retinal vascular morphology,
Abnormal testis morphology,
Abnormal vertebral morphology,
Aganglionic megacolon,
Agenesis of corpus callosum,
Anteverted nares,
Aplasia/Hypoplasia of the corpus callosum,
Apnea,
Ataxia,
Atypical scarring of skin,
Biparietal narrowing,
Blindness,
Cataract,
Central apnea,
Cerebellar vermis hypoplasia,
Cleft palate,
Conductive hearing impairment,
Constriction of peripheral visual field,
Delayed ability to walk,
Dextrocardia,
Eczematoid dermatitis,
Elongated superior cerebellar peduncle,
Encephalocele,
Enlarged fossa interpeduncularis,
Epicanthus,
Episodic tachypnea,
Feeding difficulties,
Feeding difficulties in infancy,
Foot polydactyly,
Gait disturbance,
Generalized hypotonia,
Glaucoma,
Global developmental delay,
Hand polydactyly,
Highly arched eyebrow,
Hydrocephalus,
Hyperinsulinemia,
Hyperreflexia,
Hypogonadism,
Hypoplasia of penis,
Hypotonia,
Intellectual disability,
Iris coloboma,
Keratoconus,
Long face,
Low-set ears,
Molar tooth sign on MRI,
Motor delay,
Neonatal breathing dysregulation,
Nephronophthisis,
Nyctalopia,
Nystagmus,
Obesity,
obsolete Low-set, posteriorly rotated ears,
Oculomotor apraxia,
Open mouth,
Ophthalmoplegia,
Optic atrophy,
Orofacial cleft,
Photophobia,
Pigmentary retinopathy,
Polymicrogyria,
Progressive night blindness,
Prominent nasal bridge,
Ptosis,
Retinal coloboma,
Retinal dystrophy,
Rod-cone dystrophy,
Scoliosis,
Seizure,
Sensorineural hearing impairment,
Situs inversus totalis,
Stage 5 chronic kidney disease,
Strabismus,
Tremor,
Type II diabetes mellitus,
Visual impairment,
Visual loss,
Wide nasal bridge
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