COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24

General Information (adopted from Orphanet):

Synonyms, Signs: COXPD24 [IBIS]
Number of Symptoms 7
OrphanetNr:
OMIM Id: 616239
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0010628) Facial palsy 146 / 7739
2
 (HPO:0000252) Microcephaly 832 / 7739
3
 (HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
4
 (HPO:0001256) Intellectual disability, mild rare [HPO:skoehler] 141 / 7739
5
 (HPO:0001260) Dysarthria rare [HPO:skoehler] 329 / 7739
6
 (HPO:0003198) Myopathy 151 / 7739
7
 (HPO:0003202) Skeletal muscle atrophy 281 / 7739

Associated genes:

NARS2;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: