hypotonia–cystinuria syndrome

'hypotonia–cystinuria syndrome' can also refer to...


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An autosomal recessive syndrome with cystinuria and a range of neurological and developmental disorders, caused by a deletion on chromosome 2 that disrupts the SLC3A1 gene (encoding an amino acid carrier) and the PREPL gene that encodes a prolyl oligopeptidase.

Subjects: Medicine and Health.

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