cerebrooculorenal syndrome
[sex-linked recessive disorder of amino acid transport which affects the eye, nervous system, and kidney; manifestations include cataract, glaucoma, aminoaciduria, hypophosphatemic rickets, developmental delay, myopathy, peripheral neuropathy, and hypotonia; associated with deficient activity of the enzyme phosphatidylinositol 4,5-bisphosphate-5-phosphatase. ( CSP )]
UMLS (CSP) C0028860- Disease or Syndrome
Relation/PAR: Abnormalities, Multiple
Arrieration mentale
inborn renal tubular transport disorder
Sex Chromosome Abnormalities
syndrome
Amino Acid Transport Disorders, Inborn
Arrieration mentale
inborn renal tubular transport disorder
Sex Chromosome Abnormalities
syndrome
Amino Acid Transport Disorders, Inborn
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