Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 14

Preferred Label : Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 14;

Symbol : MDDGB14;

CISMeF acronym : MDDGB14;

Type : Phenotype, molecular basis known;

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

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the GDP-mannose pyrophosphorylase B gene (GMPPB, 615320.0004);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #615351;

Details

Origin ID

615351;

UMLS CUI

C3809221;

DO Cross reference
- muscular dystrophy-dystroglycanopathy [DO Concept]
Genes related to phenotype
- Gdp-mannose pyrophosphorylase b [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Cerebellar hypoplasia [HPO term]
- Congenital muscular dystrophy [HPO term]
- Decreased fetal movement [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Feeding difficulties [HPO term]
- Flexion contracture [HPO term]
- Generalized hypotonia [HPO term]
- Generalized limb muscle atrophy [HPO term]
- Global developmental delay [HPO term]
- Hypertonia [HPO term]
- Hypoglycosylation of alpha-dystroglycan [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Muscle weakness [HPO term]
- Muscular dystrophy [HPO term]
- Myopathic facies [HPO term]
- Nystagmus [HPO term]
- Poor head control [HPO term]
- Prolonged QT interval [HPO term]
- Ptosis [HPO term]
- Seizure [HPO term]
- Strabismus [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Congenital muscular dystrophy with cerebellar involvement [ORDO Disease]
- Congenital muscular dystrophy with intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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