[DEL] COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23

General Information (adopted from Orphanet):

Synonyms, Signs: COXPD23 [IBIS]
Number of Symptoms 0
OrphanetNr:
OMIM Id: 616198
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.

Comment:

Identical to ORPHA444013;

Symptom Information: Sort by abundance 

Associated genes:

GTPBP3;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: