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Summary
PHOSPHORIBOSYL PYROPHOSPHATE SYNTHETASE I DEFECT
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 CMTX5
311070
OMIM = Online Medalian Inheritance of Men
99014
Xq22.3
rare
X-linked recessive
symptoms
ataxia
blindness, visual loss, visual impairment
hearing defect, deafness
hypotonia
infections (severe or recurrent)
mental retardation
motor retardation
onset, adolescent
onset, childhood
onset, infancy
onset, neonatal
optic atrophy
peripheral neuropathy
retinitis pigmentosa
laboratory finding
Literature