Hypotonia-Cystinuria Syndrome

Hypotonia-Cystinuria Syndrome

OMIM number: 606407

Comments closing date: 13/06/2025

Hypotonia-cystinuria syndrome is a genetic
disorder caused by deletion of particular genes on
chromosome 2. Affected individuals are smaller
when growing inside the uterus, have low muscle
tone from birth, struggle to feed, eye rolling may
have difficulties with swallowing. Individuals are at
increased risk of kidney stones, being deficient in
growth hormone and have characteristic facial
features. They may struggle to grow and then
have rapid weight gain in late childhood.

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