MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 15
OrphanetNr:
OMIM Id: 615824
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:0000028) Cryptorchidism 347 / 7739
2
 (HPO:0002049) Proximal renal tubular acidosis 8 / 7739
3
 (HPO:0000582) Upslanted palpebral fissure 185 / 7739
4
 (HPO:0005280) Depressed nasal bridge 381 / 7739
5
 (HPO:0000286) Epicanthus 371 / 7739
6
 (HPO:0000664) Synophrys 112 / 7739
7
 (HPO:0001263) Global developmental delay 853 / 7739
8
 (HPO:0002465) Poor speech 31 / 7739
9
 (HPO:0000718) Aggressive behavior 109 / 7739
10
 (HPO:0000752) Hyperactivity 140 / 7739
11
 (HPO:0001250) Seizures 1245 / 7739
12
 (HPO:0100259) Postaxial polydactyly 85 / 7739
13
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
14
 (HPO:0001942) Metabolic acidosis 81 / 7739
15
 (HPO:0001319) Neonatal hypotonia 101 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: