Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 3

Preferred Label : Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 3;

Symbol : MDDGB3;

CISMeF acronym : MDDGB3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Muscular dystrophy, congenital, pomgnt1-related;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the protein O-mannose beta-1,2-N-acetylglucosaminyltransferase gene (POMGNT1, 606822.0014);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #613151;

Details

Origin ID

613151;

UMLS CUI

C3150412;

DO Cross reference
- muscular dystrophy-dystroglycanopathy [DO Concept]
Genes related to phenotype
- Protein o-mannose beta-1,2-n-acetylglucosaminyltransferase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cerebellar cyst [HPO term]
- Cerebellar hypoplasia [HPO term]
- Congenital muscular dystrophy [HPO term]
- Congenital onset [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Hypoplasia of the pons [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Motor delay [HPO term]
- Muscular dystrophy [HPO term]
- Myopia [HPO term]
- Optic atrophy [HPO term]
- Strabismus [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Congenital muscular dystrophy with cerebellar involvement [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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