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Athabaskan brainstem dysgenesis syndrome
1 OMIM reference -
1 associated gene
26 connected diseases
No signs/symptoms info
Disease Type of connection
Bosley-Salih-Alorainy syndrome
Autosomal agammaglobulinemia
Precursor B-cell acute lymphoblastic leukemia
Autosomal recessive cutis laxa type 1
Lethal arteriopathy syndrome due to FBLN4 deficiency
Familial Alzheimer-like prion disease
Fatal familial insomnia
Gerstmann-Straussler-Scheinker syndrome
Huntington disease-like 1
Inherited Creutzfeldt-Jakob disease
Behavioral variant of frontotemporal dementia
CLN11 disease
Progressive non-fluent aphasia
Semantic dementia
Axenfeld anomaly
Axenfeld-Rieger syndrome
Familial atrial fibrillation
Isolated ectopia lentis
Monilethrix
Peters anomaly
Rieger anomaly
Ring dermoid of cornea
Acute promyelocytic leukemia
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
Microphthalmia with limb anomalies
SHORT syndrome
Synonym(s):
- ABSD
- Athabascan brainstem dysgenesis syndrome
- Navajo brainstem syndrome
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease
Classification (ICD10):
(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 -
1 MeSH reference: C535397
Gene symbol UniProt reference OMIM reference
HOXA1 P49639142955
No signs/symptoms info available.