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Lissencephaly due to TUBA1A mutation

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
5 signs/symptoms

Lissencephaly due to TUBA1A mutation

B4GALT1-CDG

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TUBA1A	(0.56)	B4GALT1

Citations in the biomedical literature:

Lissencephaly due to TUBA1A mutation		B4GALT1-CDG
	Synonym(s): (no synonyms)		Synonym(s): - Beta-1,4-galactosyltransferase deficiency - CDG syndrome type IId - CDG-IId - CDG2D - Carbohydrate deficient glycoprotein syndrome type IId - Congenital disorder of glycosylation type 2d - Congenital disorder of glycosylation type IId

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare developmental defect during embryogenesis - Rare genetic disease - Rare hepatic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal recessive

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

B4GALT1-CDG
	Very frequent - Dandy-Walker anomaly - Hydrocephaly - Hypotonia - Macrocephaly / macrocrania / megalocephaly / megacephaly - Myopathy
Lissencephaly due to TUBA1A mutation
(no data available)