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

ADD3 YWHAE
GAD1
KANK1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


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



Inherited congenital spastic tetraplegia
Distal 17p13.3 microdeletion syndrome

Synonym(s):
- Inherited congenital spastic quadriplegia

Synonym(s):
- Distal del(17)(p13.3 )
- Distal monosomy 17p13.3

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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:
(no data available)

External references:
2 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references

No signs/symptoms info available.