Mitochondrial complex II deficiency, nuclear type 3

Preferred Label : Mitochondrial complex II deficiency, nuclear type 3;

Symbol : MC2DN3;

Type : Phenotype, molecular basis known;

Prefixed ID : #619167;

Details

Origin ID

619167;

UMLS CUI

C5436934;

Genes related to phenotype
- Succinate Dehydrogenase complex, subunit D [OMIM gene]
HPO term(s)
- Aspiration pneumonia [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased activity of mitochondrial complex II [HPO term]
- Developmental regression [HPO term]
- Dilated cardiomyopathy [HPO term]
- Dystonia [HPO term]
- Feeding difficulties [HPO term]
- Fetal onset [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Ketonuria [HPO term]
- Lactic acidosis [HPO term]
- Lacticaciduria [HPO term]
- Left ventricular hypertrophy [HPO term]
- Left ventricular noncompaction [HPO term]
- Left ventricular systolic dysfunction [HPO term]
- Mitral regurgitation [HPO term]
- Myoclonus [HPO term]
- Neonatal death [HPO term]
- Optic disc pallor [HPO term]
- Patent foramen ovale [HPO term]
- Pendular nystagmus [HPO term]
- Reduced brain N-acetyl aspartate level by MRS [HPO term]
- Secondary microcephaly [HPO term]
- Seizure [HPO term]
- Tricuspid regurgitation [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Isolated succinate-CoQ reductase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Isolated succinate-CoQ reductase deficiency [ORDO Disease]

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