Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type b, 4

Preferred Label : Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type b, 4;

Symbol : MDDGB4;

CISMeF acronym : MDDGB4;

Type : Phenotype, molecular basis known;

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

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the fukutin gene (FKTN, 607440.0009);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #613152;

Details

Origin ID

613152;

UMLS CUI

C2751052;

Automatic exact mappings (from CISMeF team)
- Congenital muscular dystrophy, Fukuyama type [ORDO Disease]
DO Cross reference
- muscular dystrophy-dystroglycanopathy [DO Concept]
Genes related to phenotype
- Fukutin [OMIM gene]
HPO term(s)
- Abnormal cerebral white matter morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Childhood onset [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Generalized muscle weakness [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Motor delay [HPO term]
- Muscular dystrophy [HPO term]
ORDO concept(s)
- Congenital muscular dystrophy without intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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