Human (49 sources):
Arthrogryposis multiplex congenita,
Ataxia,
Brachydactyly,
Cardiomegaly,
Cerebellar atrophy,
Cerebral cortical atrophy,
Cerebral visual impairment,
Clinodactyly of the 5th finger,
Coarse facial features,
Constipation,
Cryptorchidism,
Cystic hygroma,
Deep philtrum,
Elevated circulating alkaline phosphatase concentration,
Feeding difficulties,
Feeding difficulties in infancy,
Fetal akinesia sequence,
Gait disturbance,
Generalized hypotonia,
Gingival overgrowth,
Global developmental delay,
Hearing impairment,
Hepatomegaly,
Highly arched eyebrow,
Inability to walk,
Long nose,
Low alkaline phosphatase,
Macroglossia,
Microcephaly,
Multiple joint contractures,
Nystagmus,
Pectus carinatum,
Posteriorly rotated ears,
Preauricular skin tag,
Profound global developmental delay,
Scoliosis,
Seizure,
Short 4th metacarpal,
Short chin,
Short distal phalanx of finger,
Short fourth metatarsal,
Short metatarsal,
Single transverse palmar crease,
Thickened helices,
Thickened nuchal skin fold,
Umbilical hernia,
Vertical forehead creases,
Widely spaced teeth,
obsolete Joint laxity
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