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Atypical hypotonia - cystinuria syndrome
1 OMIM reference -
3 associated genes
5 connected diseases
No signs/symptoms info
Disease Type of connection
2p21 microdeletion syndrome
2p21 microdeletion syndrome without cystinuria
Hypotonia - cystinuria syndrome
Cystinuria type A
Autosomal recessive limb girdle muscular dystrophy type 2A
Synonym(s):
- Atypical HCS
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare renal disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
CAMKMT Q7Z624609559
PREPL Q4J6C6609557
SLC3A1 Q07837104614
No signs/symptoms info available.