Atypical hypotonia-cystinuria syndrome

Orpha code: 238523OMIM code: 606407

Definition

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).

Disease data
Classification

Disease

Synonyms
Atypical HCS
Atypowy HCS
ORPHA code
238523
OMIM code
606407
ICD10 code
E72.0
ICD11 code
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl