Cytoscape Web
Click node...

Hypomyelination with brain stem and spinal cord involvement and leg spasticity
1 OMIM reference -
1 associated gene
20 connected diseases
No signs/symptoms info
Disease Type of connection
Blackfan-Diamond anemia
Acute infantile liver failure-multisystemic involvement syndrome
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Pelizaeus-Merzbacher-like due to AIMP1 mutation
Charcot-Marie-Tooth disease type 4D
Autosomal agammaglobulinemia
Craniometaphyseal dysplasia
Fibronectin glomerulopathy
Giant cell glioblastoma
Gliosarcoma
Hypoplastic left heart syndrome
Hypotrichosis simplex
Oculodentodigital dysplasia
Pseudohypoaldosteronism type 2E
SHORT syndrome
Syndactyly type 3
Autosomal dominant Charcot-Marie-Tooth disease type 2D
Autosomal dominant Charcot-Marie-Tooth disease type 2N
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
Distal hereditary motor neuropathy type 5
Synonym(s):
- HBSL
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic 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 recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
DARS P14868603084
No signs/symptoms info available.