COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22

General Information (adopted from Orphanet):

Synonyms, Signs: COXPD22 [IBIS]
Number of Symptoms 9
OrphanetNr:
OMIM Id: 616045
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:0000252) Microcephaly 832 / 7739
2
 (HPO:0001298) Encephalopathy 72 / 7739
3
 (HPO:0001250) Seizures 1245 / 7739
4
 (HPO:0001508) Failure to thrive 454 / 7739
5
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
6
 (HPO:0002092) Pulmonary hypertension 109 / 7739
7
 (HPO:0001635) Congestive heart failure 232 / 7739
8
 (HPO:0003348) Hyperalaninemia 19 / 7739
9
 (HPO:0001252) Muscular hypotonia 990 / 7739

Associated genes:

ATP5A1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: