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Hypotonia-Cystinuria Syndrome
A syndrome that is caused by homozygous deletion on chromosome 2p21 that disrupts the SLC3A1 and PREPL genes. The deletion ranges in size from 23.8 to 75.5 kb. Itis characterized by neonatal and infantile hypotonia and f
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Overview
A syndrome that is caused by homozygous deletion on chromosome 2p21 that disrupts the SLC3A1 and PREPL genes. The deletion ranges in size from 23.8 to 75.5 kb. Itis characterized by neonatal and infantile hypotonia and f
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