OCULOCEREBRORENAL DYSTROPHY
\ˈɒkjʊlˌə͡ʊsɹɪbɹˌɔːnə͡l dˈɪstɹəfi], \ˈɒkjʊlˌəʊsɹɪbɹˌɔːnəl dˈɪstɹəfi], \ˈɒ_k_j_ʊ_l_ˌəʊ_s_ɹ_ɪ_b_ɹ_ˌɔː_n_əl d_ˈɪ_s_t_ɹ_ə_f_i]\
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A sex-linked recessive disorder of amino acid transport which affects the EYE; NERVOUS SYSTEM; and KIDNEY. Clinical manifestations include CATARACT; GLAUCOMA; developmental delay (which eventually leads to profound cognitive deficits); myopathy; peripheral neuropathy; and hypotonia. There is an associated generalized aminoaciduria of the FANCONI SYNDROME type; renal tubular acidosis (ADIDOSIS, RENAL TUBULAR); and hypophosphatemic RICKETS. This condition has been associated with deficient activity of the enzyme phosphatidylinositol 4,5-bisphosphate-5-phosphatase. (Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60 (6):1384-8)
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