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Distal 17p13.3 microdeletion syndrome
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Inherited congenital spastic tetraplegia
2 OMIM references -
3 associated genes
No signs/symptoms info
Distal 17p13.3 microdeletion syndrome
Inherited congenital spastic tetraplegia

YWHAE
(UniProt - OMIM)
 ADD3
(UniProt - OMIM)
GAD1
(UniProt - OMIM)
KANK1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
YWHAE
(0.68)
KANK1


Citations in the biomedical literature:


Distal 17p13.3 microdeletion syndrome
YWHAE
Inherited congenital spastic tetraplegia
ADD3 GAD1 KANK1



Distal 17p13.3 microdeletion syndrome
Inherited congenital spastic tetraplegia

Synonym(s):
- Distal del(17)(p13.3 )
- Distal monosomy 17p13.3
Synonym(s):
- Inherited congenital spastic quadriplegia
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
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:
2 OMIM references -
No MeSH references
No signs/symptoms info available.