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2 associated genes
No signs/symptoms info
COMMON GENES: 2
1 OMIM reference -
3 associated genes
No signs/symptoms info
2p21 microdeletion syndrome without cystinuria
Atypical hypotonia - cystinuria syndrome

CAMKMT CAMKMT
PREPL PREPL
SLC3A1


COMMON
GENES
CAMKMT
PREPL



Citations in the biomedical literature:


2p21 microdeletion syndrome without cystinuria
CAMKMT PREPL
Atypical hypotonia - cystinuria syndrome
SLC3A1



2p21 microdeletion syndrome without cystinuria
Atypical hypotonia - cystinuria syndrome

Synonym(s):
- Del(2)(p21) without cystinuria

Synonym(s):
- Atypical HCS

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare renal disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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
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:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.