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CHCHD10

coiled-coil-helix-coiled-coil-helix domain containing 10

HCNC Approved Symbol
CHCHD10 (HGNC:15559)
Genomic Coordinates
22:23,765,834 - 23,767,972 (22q11.23)
Synonyms
N27C7-4, MIX17A, C22orf16
Disease Associations
This gene is associated with the following 3 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
?Myopathy, isolated mitochondrial, autosomal dominant
616209AD
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
615911AD
Spinal muscular atrophy, Jokela type
615048AD

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the CHCHD10 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Areflexia of lower limbs
 1 (100.0%)
Easy fatigability
 1 (100.0%)
Hyporeflexia of upper limbs
 1 (100.0%)
Loss of ambulation
 1 (100.0%)
Lower limb atrophy
 1 (100.0%)