Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14

Preferred Label : Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14;

Symbol : MDDGA14;

CISMeF acronym : MDDGA14;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Walker-warburg syndrome or muscle-eye-brain disease, gmppb-related;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the GDP-mannose pyrophosphorylase B gene (GMPPB, 615320.0001);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #615350;

Details

Origin ID

615350;

UMLS CUI

C3809216;

Automatic exact mappings (from CISMeF team)
- Walker-Warburg syndrome [MeSH Descriptor]
- Walker-Warburg syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- congenital muscular dystrophy-dystroglycanopathy A14 [DO Concept]
DO Cross reference
- congenital muscular dystrophy-dystroglycanopathy A14 [DO Concept]
Genes related to phenotype
- Gdp-mannose pyrophosphorylase b [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cleft palate [HPO term]
- Congenital onset [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Feeding difficulties [HPO term]
- Global developmental delay [HPO term]
- Hypoglycosylation of alpha-dystroglycan [HPO term]
- Hypoplasia of the pons [HPO term]
- Inability to walk [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, severe [HPO term]
- Microcephaly [HPO term]
- Muscle weakness [HPO term]
- Muscular dystrophy [HPO term]
- Oligohydramnios [HPO term]
- Sensorineural hearing impairment [HPO term]
ORDO concept(s)
- Muscle-eye-brain disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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