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Polymicrogyria due to TUBB2B mutation
1 OMIM reference -
1 associated gene
28 connected diseases
No signs/symptoms info
Disease Type of connection
Congenital fibrosis of extraocular muscles
Common variable immunodeficiency
Alternating hemiplegia of childhood
Benign paroxysmal torticollis of infancy
Familial or sporadic hemiplegic migraine
Familial paroxysmal ataxia
Spinocerebellar ataxia type 6
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
46,XY complete gonadal dysgenesis
46,XY partial gonadal dysgenesis
Anaplastic ependymoma
Autosomal dominant hypohidrotic ectodermal dysplasia
Intermittent hydrarthrosis
TRAPS syndrome
17p13.3 microduplication syndrome
Distal 17p13.3 microdeletion syndrome
Familial isolated dilated cardiomyopathy
Glycogen storage disease due to liver phosphorylase kinase deficiency
Keratosis follicularis spinulosa decalvans
Miller-Dieker syndrome
Multiple endocrine neoplasia type 1
Opsismodysplasia
Pseudohypoaldosteronism type 2E
Young adult-onset Parkinsonism
Infantile Refsum disease
Neonatal adrenoleukodystrophy
Zellweger syndrome
Berardinelli-Seip congenital lipodystrophy
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
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
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
TUBB2B Q9BVA1612850
No signs/symptoms info available.