Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15

Preferred Label : Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15;

Symbol : MDDGB15;

CISMeF acronym : MDDGB15;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Muscular dystrophy, congenital, dpm3-related;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the dolichyl-phosphate mannosyltransferase 3 gene (DPM3, 605951.0003);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #618992;

Details

Origin ID

618992;

UMLS CUI

C5436552;

Genes related to phenotype
- Dolichyl-phosphate mannosyltransferase 3 [OMIM gene]
HPO term(s)
- Abnormal periventricular white matter morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Centrally nucleated skeletal muscle fibers [HPO term]
- Delayed ability to stand [HPO term]
- Delayed ability to walk [HPO term]
- Generalized non-motor (absence) seizure [HPO term]
- Highly elevated creatine kinase [HPO term]
- Increased variability in muscle fiber diameter [HPO term]
- Motor delay [HPO term]
- Myopathy [HPO term]
ORDO concept(s)
- Congenital muscular dystrophy with intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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