Human (80 sources):
Abnormal helix morphology,
Abnormal pyramidal sign,
Abnormal rib cage morphology,
Arthritis,
Atypical behavior,
Avascular necrosis,
Babinski sign,
Bowing of the long bones,
Broad forehead,
Cataract,
Cerebellar atrophy,
Cerebral atrophy,
Chronic otitis media,
Coarse facial features,
Corneal opacity,
Craniofacial hyperostosis,
Decreased circulating antibody concentration,
Delayed myelination,
Delayed skeletal maturation,
Dental malocclusion,
Depressed nasal bridge,
Depressed nasal ridge,
Dysarthria,
Dysostosis multiplex,
Epicanthus,
Femoral bowing,
Flat occiput,
Frontal bossing,
Gait ataxia,
Generalized abnormality of skin,
Generalized hypotonia,
Gingival overgrowth,
Gliosis,
Global developmental delay,
Growth delay,
Hallucinations,
Hearing impairment,
Hepatomegaly,
Hip dysplasia,
Hyperreflexia,
Hypertelorism,
Hypertrichosis,
Hypoplastic inferior ilia,
Hypotonia,
Impaired smooth pursuit,
Increased intracranial pressure,
Increased vertebral height,
Intellectual disability,
Kyphosis,
Limb ataxia,
Low anterior hairline,
Macrocephaly,
Macroglossia,
Macrotia,
Malar flattening,
Mandibular prognathia,
Midface retrusion,
Narrow palate,
Nystagmus,
Open bite,
Pectus carinatum,
Prominent supraorbital ridges,
Recurrent bacterial infections,
Recurrent respiratory infections,
Retinal degeneration,
Scoliosis,
Sensorineural hearing impairment,
Short neck,
Skeletal dysplasia,
Spasticity,
Spinocerebellar tract disease in lower limbs,
Splenomegaly,
Spondylolisthesis,
Synostosis of joints,
Thickened calvaria,
Thick eyebrow,
Thoracolumbar kyphosis,
Type II diabetes mellitus,
Vacuolated lymphocytes,
Widely spaced teeth
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