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Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
1 OMIM reference -
1 associated gene
13 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Autosomal dominant nonsyndromic intellectual deficit
Infantile autosomal recessive medullary cystic kidney disease
Renal-hepatic-pancreatic dysplasia
Amyotrophic lateral sclerosis
Distal hereditary motor neuropathy type 7
Perry syndrome
17p13.3 microduplication syndrome
Combined immunodeficiency due to STK4 deficiency
Lissencephaly due to LIS1 mutation
Miller-Dieker syndrome
Subcortical band heterotopia
Synonym(s):
- Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures
- SMALED2
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
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
BICD2 Q8TD16609797
No signs/symptoms info available.