Walker-Warburg Syndrome
| Disorder | |
|---|---|
| OMIM #: | #236670 (Click to access OMIM database) |
| Disorder: | Walker-Warburg Syndrome |
| Also known as: | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY |
| Clinical | |
| Phenotype: | developmental delay, agyria, hypotonia, hydrocephalus, Dandy-Walker malformation, other central nervous system anomalies, myopathy, muscular dystrophy, retinal dystrophy, microphthalmia, other eye anomalies, posterior embryotoxin, kidney malformation |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Old Order Mennonite | |
| Gene: | POMT1 |
| Base Change: | c.1261_1262delCT |
| Amino Acid Change: | p.Leu421Glufs*12 |
| Last updated: | 2022-11-12 |
| References |
|---|
| Bouchet C, Gonzales M, Vuillaumier-Barrot S, Devisme L, Lebizec C, Alanio E, Bazin A. (2007) Molecular Heterogeneity in Fetal Forms
of Type II Lissencephaly. Hum Mutat Oct;28(10):1020-7. PubMed ID: 17559086 |
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