Human (51 sources):
Abnormal cardiac septum morphology,
Abnormal facial shape,
Ankle flexion contracture,
Ataxia,
Brachydactyly,
Branchial cyst,
Camptodactyly,
Cerebellar hypoplasia,
Clinodactyly,
Cryptorchidism,
Decreased testicular size,
Delayed speech and language development,
Dental crowding,
Dolichocephaly,
Epicanthus,
Finger syndactyly,
Gastroesophageal reflux,
Generalized hypotonia,
Global developmental delay,
Growth delay,
Hearing impairment,
Hypospadias,
Hypotonia,
Intellectual disability,
Intrauterine growth retardation,
Knee flexion contracture,
Laryngomalacia,
Long philtrum,
Mandibular prognathia,
Microcephaly,
Microretrognathia,
Myopia,
Narrow mouth,
Premature birth,
Progressive microcephaly,
Protruding ear,
Pulmonary artery stenosis,
Recurrent infections,
Sacral lipoma,
Scoliosis,
Seizure,
Self-injurious behavior,
Sensorineural hearing impairment,
Severe postnatal growth retardation,
Short stature,
Single transverse palmar crease,
Smooth philtrum,
Spondyloepiphyseal dysplasia,
Tapered finger,
Thin upper lip vermilion,
Wide nasal bridge
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