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Walker-Warburg syndrome; hydrocephalus, agyria & retinal dysplasia; Hard syndrome; Chemke syndrome; Pagon syndrome; cerebroocular dysplasia-muscular dystrophy syndrome
Etiology:
- associated with several distinct congenital muscular dystrophies
- cobblestone lissencephaly, agyria
- retinal dysplasia, with or without encephalocele
Genetics:
1) associated with defects in the POMT1 & POMT2 genes
2) associated with mutation in fukutin gene
3) associated with mutation in POMGNT1 gene
4) associated with mutation in FKRP gene
Clinical manifestations:
1) hydrocephalus
2) eye malformations
3) mental retardation
Laboratory:
- POMGNT1 gene mutation
- FKRP gene mutation
- FKTN gene mutation
- POMT1 gene mutation
- POMT2 gene mutation
Management:
- condition is usually lethal within the first few months of life
Related
protein O-mannosyl-transferase 1; dolichyl-phosphate-mannose-protein mannosyltransferase 1 (POMT1)
Warburg micro syndrome
General
developmental disorder syndrome (multisystem disorder)
genetic syndrome (multisystem disorder)
Database Correlations
OMIM correlations
References
OMIM :accession 236670