Mitochondrial complex I deficiency, nuclear type 27

Preferred Label : Mitochondrial complex I deficiency, nuclear type 27;

Symbol : MC1DN27;

CISMeF acronym : MC1DN27;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mitochondrial methionyl-tRNA formyltransferase gene (MTFMT, 611766.0001);

Laboratory abnormalities : Mitochondrial complex I deficiency in various tissues;

Prefixed ID : #618248;

Details

Origin ID

618248;

UMLS CUI

C4748826;

Genes related to phenotype
- Mitochondrial methionyl-trna formyltransferase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Infantile onset [HPO term]
- Neurogenic bladder [HPO term]
- Optic atrophy [HPO term]
- Spasticity [HPO term]
ORDO concept(s)
- Leigh syndrome with leukodystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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