MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4

General Information (adopted from Orphanet):

Synonyms, Signs: MC3DN4
Number of Symptoms 20
OrphanetNr:
OMIM Id: 615159
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001249) Intellectual disability 1089 / 7739
2
(HPO:0010864) Intellectual disability, severe 120 / 7739
3
(HPO:0001332) Dystonia 197 / 7739
4
(HPO:0002305) Athetosis 31 / 7739
5
(HPO:0001347) Hyperreflexia 363 / 7739
6
(HPO:0002071) Abnormality of extrapyramidal motor function 76 / 7739
7
(HPO:0001251) Ataxia 413 / 7739
8
(HPO:0001344) Absent speech 57 / 7739
9
(HPO:0001276) Hypertonia 317 / 7739
10
(HPO:0001263) Global developmental delay 853 / 7739
11
(HPO:0002151) Increased serum lactate 92 / 7739
12
(HPO:0001324) Muscle weakness 859 / 7739
13
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
14
(HPO:0001252) Muscular hypotonia 990 / 7739
15
(HPO:0010547) Muscle flaccidity 466 / 7739
16
(OMIM) Lack of speech 17 / 7739
17
(OMIM) Inability to walk independently 4 / 7739
18
(OMIM) Brain MRI shows lesions in the basal ganglia 2 / 7739
19
(OMIM) Decreased mitochondrial complex III activity seen in muscle 1 / 7739
20
(OMIM) Decreased mitochondrial complex III activity seen on muscle biopsy 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Barel et al. (2008) reported a large consanguineous Israeli Bedouin kindred in which 25 individuals had an autosomal recessive syndrome comprising severe psychomotor retardation and extrapyramidal signs. Affected individuals seemed normal at birth without any dysmorphic features, but ...
Molecular genetics OMIM In affected members of a large Israeli Bedouin kindred with complex III deficiency, Barel et al. (2008) identified a homozygous mutation in the UQCRQ gene (612080.0001).