COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20

General Information (adopted from Orphanet):

Synonyms, Signs: COXPD20 [IBIS]
Number of Symptoms 8
OrphanetNr:
OMIM Id: 615917
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:0001999) Abnormal facial shape rare [HPO:skoehler] 169 / 7739
3
 (HPO:0000508) Ptosis rare [HPO:skoehler] 459 / 7739
4
 (HPO:0000590) Progressive external ophthalmoplegia rare [HPO:skoehler] 23 / 7739
5
 (HPO:0001263) Global developmental delay rare [HPO:skoehler] 853 / 7739
6
 (HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
7
 (HPO:0001251) Ataxia rare [HPO:skoehler] 413 / 7739
8
 (HPO:0001252) Muscular hypotonia 990 / 7739

Associated genes:

VARS2;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: