Combined oxidative phosphorylation deficiency type 23

General Information (adopted from Orphanet):

Synonyms, Signs: COXPD23
Number of Symptoms 16
OrphanetNr:
OMIM Id:
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
Monogenic
Age of onset: Neonatal
Infancy
Childhood

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT

Symptom Information: Sort by abundance 

1
 (HPO:0011968) Feeding difficulties 240 / 7739
2
 (HPO:0000505) Visual impairment 297 / 7739
3
 (HPO:0002151) Increased serum lactate 92 / 7739
4
 (HPO:0003128) Lactic acidosis 116 / 7739
5
 (HPO:0001638) Cardiomyopathy 192 / 7739
6
 (HPO:0011675) Arrhythmia 226 / 7739
7
 (HPO:0001635) Congestive heart failure 232 / 7739
8
 (HPO:0011923) Decreased activity of mitochondrial complex I 35 / 7739
9
 (HPO:0008347) Decreased activity of mitochondrial complex IV 31 / 7739
10
 (HPO:0001252) Muscular hypotonia 990 / 7739
11
 (HPO:0002361) Psychomotor deterioration 26 / 7739
12
 (HPO:0001250) Seizures 1245 / 7739
13
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
14
 (HPO:0012748) Focal T2 hyperintense brainstem lesion 2 / 7739
15
 (HPO:0012692) Focal T2 hyperintense thalamic lesion 1 / 7739
16
 (HPO:0007183) Focal T2 hyperintense basal ganglia lesion 6 / 7739

Associated genes:

GTPBP3;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: