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Hypotonia-cystinuria syndrome
rareA rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.
- Part of
- Inborn disorder of amino acid transportInborn mitochondrial metabolism disorderPartial deletion of the short arm of chromosome 2Syndromic disease
- Also known as
- cystinuria with mitochondrial disease · HCS · homozygous 2P16 deletion syndrome · hypotonia-cystinuria syndrome type 1 · hypotonia-cystinuria type 1 syndrome
Subtypes
| Disease | Subtypes |
|---|---|
| Atypical hypotonia-cystinuria syndrome |
Rare disease
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