Atypical hypotonia-cystinuria syndrome
Synonyms: Atypical HCS
A form of hypotonia-cystinuria type 1 syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1 generalised hypotonia poor feeding growth retardation and minor facial dysmorphism).
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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Atypical hypotonia-cystinuria syndrome?
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