Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6

Preferred Label : Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6;

Symbol : PEOB6;

Type : Phenotype, molecular basis known;

Prefixed ID : #620647;

Details

Origin ID

620647;

UMLS CUI

C5882731;

Genes related to phenotype
- Ribonucleotide reductase catalytic subunit m1 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Axial muscle weakness [HPO term]
- Cachexia [HPO term]
- Centrally nucleated skeletal muscle fibers [HPO term]
- Childhood onset [HPO term]
- Cytochrome C oxidase-negative muscle fibers [HPO term]
- Dysphagia [HPO term]
- Elevated circulating alanine aminotransferase concentration [HPO term]
- Elevated circulating aspartate aminotransferase concentration [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Gastrointestinal dysmotility [HPO term]
- Gastroparesis [HPO term]
- Intellectual disability [HPO term]
- Juvenile onset [HPO term]
- Limb muscle weakness [HPO term]
- Loss of ambulation [HPO term]
- Middle age onset [HPO term]
- Multiple mitochondrial DNA deletions [HPO term]
- Myopathy [HPO term]
- Nausea [HPO term]
- Ophthalmoplegia [HPO term]
- Ptosis [HPO term]
- Ragged-red muscle fibers [HPO term]
- Sensorimotor neuropathy [HPO term]
- Sensorineural hearing impairment [HPO term]
- Skeletal muscle atrophy [HPO term]
- Vomiting [HPO term]
- Weakness of facial musculature [HPO term]
- Young adult onset [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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