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hypotonia-cystinuria syndrome
Genetics:
- caused by a deletion that disrups both SLC3A1 & PREPL genes (deletion of SLC3A1 causes isolated cystinuria type-1)
Clinical manifestations:
- generalized hypotonia at birth
- nephrolithiasis
- growth hormone deficiency
- minor facial dysmorphism
- failure to thrive, followed by hyperphagia & rapid weight gain in late childhood
Related
cystinuria
hypotonia
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 606407
References
OMIM :accession 606407