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Distal 17p13.3 microdeletion syndrome
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Congenital fibrosis of extraocular muscles
6 OMIM references -
4 associated genes
No signs/symptoms info
Distal 17p13.3 microdeletion syndrome
Congenital fibrosis of extraocular muscles

YWHAE
(UniProt - OMIM)
 KIF21A
(UniProt - OMIM)
PHOX2A
(UniProt - OMIM)
TUBB2B
(UniProt - OMIM)
TUBB3
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
YWHAE
(0.63)
TUBB2B


Citations in the biomedical literature:


Distal 17p13.3 microdeletion syndrome
YWHAE
Congenital fibrosis of extraocular muscles
KIF21A PHOX2A TUBB2B TUBB3



Distal 17p13.3 microdeletion syndrome
Congenital fibrosis of extraocular muscles

Synonym(s):
- Distal del(17)(p13.3 )
- Distal monosomy 17p13.3
Synonym(s):
- FEOM
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the eye and adnexa -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
External references:
6 OMIM references -
No MeSH references
No signs/symptoms info available.