COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21

General Information (adopted from Orphanet):

Synonyms, Signs: COXPD21 [IBIS]
Number of Symptoms 6
OrphanetNr:
OMIM Id: 615918
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:0002509) Limb hypertonia 13 / 7739
2
 (HPO:0001263) Global developmental delay 853 / 7739
3
 (HPO:0001397) Hepatic steatosis 75 / 7739
4
 (HPO:0002151) Increased serum lactate 92 / 7739
5
 (HPO:0008936) Muscular hypotonia of the trunk 77 / 7739
6
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739

Associated genes:

TARS2;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: