Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/614830 http://purl.bioontology.org/ontology/OMIM/614830
Preferred Name	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8
Synonyms	WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, GTDC2-RELATED MDDGA8
Type	http://www.w3.org/2002/07/owl#Class

altLabel	WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, GTDC2-RELATED MDDGA8
prefLabel	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8
Gene Symbol	POMGNT2 C3orf39 MDDGA8 AGO61 MDDGC8 GTDC2 See more See less
Scope Statement	Caused by mutation in the glycosyltransferase-like domain-containing protein 2 gene (GTDC2, 614828.0001) [MOLECULAR BASIS] Onset prenatally or at birth [MISCELLANEOUS] Severe phenotype [MISCELLANEOUS] Most patients die within the first year of life [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000269 http://purl.bioontology.org/ontology/OMIM/MTHU020469 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU002499 http://purl.bioontology.org/ontology/OMIM/MTHU036342 http://purl.bioontology.org/ontology/OMIM/MTHU040403 http://purl.bioontology.org/ontology/OMIM/MTHU032308 http://purl.bioontology.org/ontology/OMIM/MTHU030468 http://purl.bioontology.org/ontology/OMIM/MTHU001677 See more See less
tui	T047
Gene Locus	3p22.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	614830
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C3553813
OMIM Entry Type	3
OMIM MimType Value	pound

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