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

• associated with defects in the POMT1 & POMT2 genes
• associated with mutation in fukutin gene
• associated with mutation in POMGNT1 gene
• associated with mutation in FKRP gene

Clinical manifestations

• hydrocephalus
• eye malformations
• 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

More general terms

• genetic syndrome (multisystem disorder)
• developmental disorder syndrome (multisystem disorder)

Additional terms

• protein O-mannosyl-transferase 1; dolichyl-phosphate-mannose-protein mannosyltransferase 1 (POMT1)

Database

• OMIM: https://mirror.omim.org/entry/236670
• OMIM: https://mirror.omim.org/entry/613150
• OMIM: https://mirror.omim.org/entry/613155
• OMIM: https://mirror.omim.org/entry/613156
• OMIM: https://mirror.omim.org/entry/609308