Fatal infantile cytochrome C oxidase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: Fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency
Fatal infantile COX deficiency
Number of Symptoms 14
OrphanetNr: 1561
OMIM Id: 604377
615119
ICD-10: G71.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0007941) Limited extraocular movements 7 / 7739
2
 (HPO:0002490) Increased CSF lactate 28 / 7739
3
 (HPO:0001263) Global developmental delay 853 / 7739
4
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
5
 (HPO:0001639) Hypertrophic cardiomyopathy 137 / 7739
6
 (HPO:0002151) Increased serum lactate 92 / 7739
7
 (HPO:0003128) Lactic acidosis 116 / 7739
8
 (HPO:0002880) Respiratory difficulties 15 / 7739
9
 (HPO:0001252) Muscular hypotonia 990 / 7739
10
 (HPO:0006999) Basal ganglia gliosis 4 / 7739
11
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
 (HPO:0001522) Death in infancy 275 / 7739
13
 (HPO:0003577) Congenital onset 133 / 7739
14
 (HPO:0002529) Neuronal loss in central nervous system 37 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: