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6 OMIM references -
9 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
4 signs/symptoms
Isolated CoQ-cytochrome C reductase deficiency
Syndactyly type 3

BCS1L GJA1
CYC1
LYRM7
MT-CYB
TTC19
UQCC2
UQCRB
UQCRC2
UQCRQ


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
UQCRC2
(0.63)
GJA1



Citations in the biomedical literature:


Isolated CoQ-cytochrome C reductase deficiency
BCS1L CYC1 LYRM7 MT-CYB TTC19 UQCC2
UQCRB UQCRC2 UQCRQ
Syndactyly type 3
GJA1



Isolated CoQ-cytochrome C reductase deficiency
Syndactyly type 3

Synonym(s):
- Isolated coenzyme Q-cytochrome C reductase deficiency
- Isolated mitochondrial respiratory chain complex III deficiency
- Isolated ubiquinone-cytochrome C reductase deficiency

Synonym(s):
- SD3
- Syndactyly of fingers 4 and 5

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
6 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C538154

Syndactyly type 3

Very frequent
- Autosomal dominant inheritance
- Syndactyly of fingers / interdigital palm

Frequent
- Camptodactyly of some fingers

Occasional
- Short foot / brachydactyly of toes


Isolated CoQ-cytochrome C reductase deficiency

(no data available)