Walker–Warburg syndrome

Also known as: Cobblestone lissencephaly

Congenital muscular dystrophy with lissencephaly and eye anomalies.

Medical specialty: Neurology
Subspecialty: Neurology / Congenital malformations
Sex & age distribution: Male: affected; Female: affected; Children: yes
Gene(s) involved: FKRP, FKTN, ISPD, LARGE1, POMGNT1, POMT1, POMT2

Etiology & mechanism

Defective alpha-dystroglycan glycosylation.

Gene(s) involved (7)

FKRPFKTNISPDLARGE1POMGNT1POMT1POMT2

Symptoms & signs (5)

encephalocelehydrocephaluslissencephalymuscle weaknessretinal malformation

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.