Human (127 sources):
Abnormal abdomen morphology,
Abnormal cardiovascular system morphology,
Abnormal chorioretinal morphology,
Abnormal corpus callosum morphology,
Abnormal pattern of respiration,
Abnormal renal medulla morphology,
Abnormality of neuronal migration,
Abnormality of the hypothalamus-pituitary axis,
Abnormality of the urinary system,
Accessory spleen,
Aganglionic megacolon,
Agenesis of corpus callosum,
Ambiguous genitalia,
Anencephaly,
Anophthalmia,
Anteverted nares,
Aplasia/Hypoplasia of the cerebellar vermis,
Aplasia/Hypoplasia of the cerebellum,
Aplasia/Hypoplasia of the corpus callosum,
Aplasia/Hypoplasia of the iris,
Aplasia/Hypoplasia of the tongue,
Apnea,
Asplenia,
Ataxia,
Bile duct proliferation,
Biparietal narrowing,
Bowing of the long bones,
Brainstem dysplasia,
Cataract,
Central apnea,
Cerebellar vermis hypoplasia,
Chorioretinal coloboma,
Chronic hepatic failure,
Cirrhosis,
Cleft palate,
Cleft upper lip,
Cognitive impairment,
Coloboma,
Congenital hepatic fibrosis,
Cryptorchidism,
Cystic liver disease,
Dandy-Walker malformation,
Delayed gross motor development,
Depressed nasal ridge,
Elevated circulating hepatic transaminase concentration,
Elongated superior cerebellar peduncle,
Encephalocele,
Episodic tachypnea,
Feeding difficulties,
Feeding difficulties in infancy,
Full cheeks,
Furrowed tongue,
Gait disturbance,
Generalized hypotonia,
Global developmental delay,
Growth delay,
Hand polydactyly,
Hepatic fibrosis,
Hepatomegaly,
Highly arched eyebrow,
Hydrocephalus,
Hyperreflexia,
Hypertelorism,
Hypertension,
Hypometric saccades,
Hypoplasia of the brainstem,
Hypotonia,
Intellectual disability,
Intellectual disability, moderate,
Intrahepatic biliary atresia,
Iris coloboma,
Lobar holoprosencephaly,
Long face,
Low-set ears,
Low-set, posteriorly rotated ears,
Macrocephaly,
Male pseudohermaphroditism,
Microcephaly,
Microcornea,
Micrognathia,
Microphthalmia,
Molar tooth sign on MRI,
Multicystic kidney dysplasia,
Multiple small medullary renal cysts,
Neonatal breathing dysregulation,
Neoplasm of the liver,
Nephronophthisis,
Nephropathy,
Nystagmus,
Occipital encephalocele,
Oculomotor apraxia,
Oligohydramnios,
Optic atrophy,
Optic disc coloboma,
Orofacial cleft,
Pancreatic cysts,
Pancreatic fibrosis,
Polymicrogyria,
Portal hypertension,
Postaxial foot polydactyly,
Postaxial hand polydactyly,
Postaxial polydactyly,
Preaxial hand polydactyly,
Prominent nasal bridge,
Ptosis,
Renal cyst,
Renal insufficiency,
Retinal dystrophy,
Round face,
Sclerocornea,
Scoliosis,
Seizure,
Situs inversus totalis,
Sloping forehead,
Spasticity,
Splenomegaly,
Strabismus,
Tachypnea,
Talipes equinovarus,
Thickened superior cerebellar peduncle,
Tremor,
True hermaphroditism,
Ureteral duplication,
Urethral atresia,
Vascular dilatation,
Visual impairment,
Wide mouth
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