Orphanet: BICD2 related autosomal dominant childhood onset proximal spinal muscular atrophy

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ORPHA:363454

Classification level: Subtype of disorder

Synonym(s):
- BICD2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures
- SMALED2
Prevalence: <1 / 1 000 000
Inheritance: Autosomal dominant
Age of onset: Childhood, Antenatal, Infancy, Neonatal
ICD-10: G12.1
OMIM: 615290
UMLS: -
MeSH: -
GARD: -
MedDRA: -

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BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy

ORPHA:363454

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