Neurology · Neurology / Congenital malformations
Walker–Warburg syndrome
also: Cobblestone lissencephaly
Congenital muscular dystrophy with lissencephaly and eye anomalies.
- 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
- Alternative names & eponyms
- Cobblestone lissencephaly
Etiology & mechanism
Defective alpha-dystroglycan glycosylation.
Gene(s) involved (7)
Symptoms & signs (5)
In plain terms, someone with Walker–Warburg syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
1 shared
Bartter syndrome
muscle weakness
1 shared
Camurati–Engelmann syndrome
muscle weakness
1 shared
Cobalamin C syndrome
hydrocephalus
1 shared
Conn syndrome
muscle weakness
1 shared
Crouzon syndrome
hydrocephalus
1 shared
Dandy–Walker malformation
hydrocephalus
1 shared
EAST syndrome
muscle weakness
1 shared
Gitelman syndrome
muscle weakness
1 shared
Gordon syndrome
muscle weakness
1 shared
Hereditary spastic paraplegia type 1
hydrocephalus
Shares genes with
None.
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