Mitochondrial dna depletion syndrome 19

Preferred Label : Mitochondrial dna depletion syndrome 19;

Symbol : MTDPS19;

CISMeF acronym : MTDPS19;

Type : Phenotype, molecular basis known;

Prefixed ID : #618972;

Détails

Origin ID

618972;

UMLS CUI

C5436514;

Genes related to phenotype
- Solute carrier family 25 (mitochondrial carrier), member 10 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Decreased activity of mitochondrial complex I [HPO term]
- Depletion of mitochondrial DNA in muscle tissue [HPO term]
- Dyskinesia [HPO term]
- Focal-onset seizure [HPO term]
- Generalized hypotonia [HPO term]
- Hearing impairment [HPO term]
- Hydrocele testis [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypospadias [HPO term]
- Increased serum lactate [HPO term]
- Infantile spasms [HPO term]
- Microcytic anemia [HPO term]
- Multifocal epileptiform discharges [HPO term]
- Myoclonus [HPO term]
- Spasticity [HPO term]
- Tetraparesis [HPO term]
ORDO concept(s)
- Mitochondrial DNA depletion syndrome, myopathic form [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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