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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
4 signs/symptoms
Hypomyelination with atrophy of basal ganglia and cerebellum
Syndactyly type 3

TUBB4A GJA1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TUBB4A
(0.63)
GJA1



Citations in the biomedical literature:


Hypomyelination with atrophy of basal ganglia and cerebellum
TUBB4A
Syndactyly type 3
GJA1



Hypomyelination with atrophy of basal ganglia and cerebellum
Syndactyly type 3

Synonym(s):
- H-ABC

Synonym(s):
- SD3
- Syndactyly of fingers 4 and 5

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

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
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 dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C538154

Syndactyly type 3

Very frequent
- Autosomal dominant inheritance
- Syndactyly of fingers / interdigital palm

Frequent
- Camptodactyly of some fingers

Occasional
- Short foot / brachydactyly of toes


Hypomyelination with atrophy of basal ganglia and cerebellum

(no data available)