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

More general terms

• genetic syndrome (multisystem disorder)

Additional terms

• cystinuria
• hypotonia

Database

• OMIM: https://mirror.omim.org/entry/606407