Human (69 sources):
Abnormal pulmonary valve morphology,
Abnormality of the lower limb,
Abnormality of the upper limb,
Absent fingernail,
Absent hand,
Aplasia cutis congenita,
Aplasia/Hypoplasia of the skin,
Aplastic/hypoplastic toenail,
Arteriovenous malformation,
Ascites,
Brachydactyly,
Bulbous nose,
Calvarial skull defect,
Cataract,
Cerebellar hypoplasia,
Cerebral atrophy,
Cirrhosis,
Congenital hepatic fibrosis,
Cutis marmorata,
Depressed nasal bridge,
Developmental cataract,
EEG abnormality,
Encephalocele,
Esophageal varix,
Failure to thrive,
Finger aplasia,
Finger syndactyly,
Gastrointestinal hemorrhage,
Generalized hypotonia,
Global developmental delay,
Hemiparesis,
Hydrocephalus,
Hypertelorism,
Hypoplastic fingernail,
Hypotonia,
Intellectual disability,
Leukopenia,
Low anterior hairline,
Low-set ears,
Macrocephaly,
Microcephaly,
Micrognathia,
Microphthalmia,
Narrow palpebral fissure,
Oligohydramnios,
Optic atrophy,
Periventricular leukomalacia,
Polymicrogyria,
Porencephalic cyst,
Portal hypertension,
Premature birth,
Protruding ear,
Psychomotor retardation,
Pulmonary arterial hypertension,
Pulmonary artery atresia,
Retrocerebellar cyst,
Seizure,
Short distal phalanx of finger,
Single transverse palmar crease,
Small nail,
Sparse hair,
Spasticity,
Split hand,
Strabismus,
Talipes equinovarus,
Tetralogy of Fallot,
Thrombocytopenia,
obsolete Abnormality of the metacarpal bones,
obsolete Hypotrichosis
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