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A rare, genetic disorder of amino acid absorption and transport, characterized by generalized hypotonia at birth, neonatal/infantile failure to thrive (followed by hyperphagia and rapid weight gain in late childhood), cystinuria type 1, nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. Dysmorphic features mainly include dolichocephaly and ptosis. Nephrolithiasis occurs at variable ages.

Synonyms: HCS

This is just here as a test because I lose it

Term information

database cross reference
hasDbXref

OMIM:606407

UMLS:C1848030

ICD-10:E72.0

notation

ORPHA:163690