CHCHD10 deficiency

Synonym(s)
- Spinal muscular atrophy, Jokela type,
- frontotemporal dementia type 2
Type

Disease
External link(s)
- IEMbase
Gene
- CHCHD10 / Coiled-Coil Helix Coiled-Coil Helix Domain Containing 10
  22q11.23
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Mitochondrial coiled-coil domain-containing protein 10
Disease group(s)
- 19.1 Disorders of mitochondrial membrane biogenesis and remodeling
Child entries
- Autosomal dominant mitochondrial myopathy with exercise intolerance
- Lower motor neuron syndrome with late-adult onset