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Distal 17p13.3 microdeletion syndrome
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
X-linked Emery-Dreifuss muscular dystrophy
2 OMIM references -
2 associated genes
No signs/symptoms info
Distal 17p13.3 microdeletion syndrome
X-linked Emery-Dreifuss muscular dystrophy

YWHAE
(UniProt - OMIM)
 EMD
(UniProt - OMIM)
FHL1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
YWHAE
(0.63)
EMD


Citations in the biomedical literature:


Distal 17p13.3 microdeletion syndrome
YWHAE
X-linked Emery-Dreifuss muscular dystrophy
EMD FHL1



Distal 17p13.3 microdeletion syndrome
X-linked Emery-Dreifuss muscular dystrophy

Synonym(s):
- Distal del(17)(p13.3 )
- Distal monosomy 17p13.3
Synonym(s):
- EDMD1
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: -
Average age of death: -
Type of inheritance: x-linked recessive
External references:
No OMIM references
No MeSH references
External references:
2 OMIM references -
No MeSH references
No signs/symptoms info available.