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Atypical hypotonia-cystinuria syndrome

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Name:
Atypical hypotonia-cystinuria syndrome
Description:
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).
ORPHAcode:
238523
Synonyms:
Atypical HCS
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
SLC3A1
PREPL
CAMKMT
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14