Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9

Preferred Label : Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9;

Symbol : MDDGA9;

CISMeF acronym : MDDGA9;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Walker-warburg syndrome or muscle-eye brain disease, dag1-related;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the dystrophin-associated glycoprotein-1 gene (DAG1, 128239.0004);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #616538;

Details

Origin ID

616538;

UMLS CUI

C4225291;

Automatic exact mappings (from CISMeF team)
- congenital muscular dystrophy-dystroglycanopathy type A9 [DO Concept]
DO Cross reference
- congenital muscular dystrophy-dystroglycanopathy type A9 [DO Concept]
Genes related to phenotype
- Dystroglycan 1 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Agyria [HPO term]
- Autosomal recessive inheritance [HPO term]
- Buphthalmos [HPO term]
- Cataract [HPO term]
- Cerebellar cyst [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Cerebral calcification [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Generalized hypotonia [HPO term]
- Glaucoma [HPO term]
- Global developmental delay [HPO term]
- Hydrocephalus [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Leukodystrophy [HPO term]
- Macrocephaly [HPO term]
- Microphthalmia [HPO term]
- Muscular dystrophy [HPO term]
- Myopia [HPO term]
- Polymicrogyria [HPO term]
- Poor head control [HPO term]
- Respiratory failure [HPO term]
- Retinal dystrophy [HPO term]
- Variable expressivity [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Muscle-eye-brain disease with bilateral multicystic leucodystrophy [ORDO Disease]
- Walker-Warburg syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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