prenatal-onset spinal muscular atrophy with congenital bone fractures

Findings

No curated finding names prenatal-onset spinal muscular atrophy with congenital bone fractures yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• arthrogryposis multiplex congenita
• congenital nervous system disorder
• hereditary motor neuron disease

Narrower terms (2)

• spinal muscular atrophy with congenital bone fractures 1
• spinal muscular atrophy with congenital bone fractures 2

Resolves to: prenatal-onset spinal muscular atrophy with congenital bone fractures

Also called

SMABFspinal muscular atrophy with congenital bone fractures