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Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
1 OMIM reference -
1 associated gene
17 connected diseases
No signs/symptoms info
Disease Type of connection
Amyotrophic lateral sclerosis-parkinsonism-dementia complex
Young adult-onset Parkinsonism
17q11 microdeletion syndrome
7q31 microdeletion syndrome
Alternating hemiplegia of childhood
Anophthalmia / microphthalmia - esophageal atresia
Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
Childhood apraxia of speech
Colobomatous microphthalmia
Intellectual disability-severe speech delay-mild dysmorphism syndrome
Isolated anophthalmia - microphthalmia
MALT lymphoma
Precursor B-cell acute lymphoblastic leukemia
Rapid-onset dystonia-parkinsonism
Septo-optic dysplasia
Isolated NADH-CoQ reductase deficiency
Leigh syndrome with leukodystrophy
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
(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 dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
GATAD2B Q8WXI9614998
No signs/symptoms info available.