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Atypical hypotonia-cystinuria syndrome
rareA form of hypotonia-cystinuria syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalized hypotonia, poor feeding, growth retardation, and minor facial dysmorphism).
- Identifiers
- MONDO:0016539 Orphanet:238523
- Part of
- Hypotonia-cystinuria syndrome
- Also known as
- atypical HCS
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