| Disease Browser
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Parent Node:
 congenital disorder of glycosylation with developmental anomaly (MONDO:0018296) | Parent Node:
congenital disorder of glycosylation with epilepsy as a major feature (MONDO:0018287) | Parent Node:
congenital muscular alpha-dystroglycanopathy with brain and eye anomalies (MONDO:0018132) | Parent Node:
congenital vitreoretinal dysplasia (MONDO:0020247) | Parent Node:
disorder of O-mannosylglycan synthesis (MONDO:0017745) | Parent Node:
myopathy with eye involvement (MONDO:0020259) | Parent Node:
non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature (MONDO:0018286) | Parent Node:
qualitative or quantitative defects of FKRP (MONDO:0016156) | Parent Node:
qualitative or quantitative defects of fukutin (MONDO:0016157) | Parent Node:
qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase (MONDO:0016182) | Parent Node:
qualitative or quantitative defects of protein O-mannosyltransferase 1 (MONDO:0016184) | Parent Node:
qualitative or quantitative defects of protein O-mannosyltransferase 2 (MONDO:0016185) | ..Starting node
.. Walker-Warburg syndrome ()
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Child Nodes:
| | ........Fukuyama congenital muscular dystrophy () | | ........muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 () | | ........muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 () | | ........muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 () | | ........muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 () | | ........muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 () | | ........muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 () | | ........muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 () | | ........muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 () | | ........muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 () | | ........muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 () | | ........muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 () |
Sister Nodes: | ..autosomal recessive limb-girdle muscular dystrophy type 2N ()
| ..muscle-eye-brain disease ()
| ..Walker-Warburg syndrome ()
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MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
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| Term ID: | 19523 |
| Name: | Walker-Warburg syndrome |
| Definition: | Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities. |
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| Synonyms: | cerebroocular dysgenesis; cerebroocular dysplasia muscular dystrophy syndrome; cerebroocular dysplasia-muscular dystrophy syndrome; Chemke syndrome; hard +/- E syndrome; hard syndrome; hydrocephalus, agyria and retinal dysplasia; hydrocephalus-agyria-retinal dysplasia syndrome; Pagon syndrome; Walke |
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| Reference: |
MedGen:
MeSH:
OMIM:
MSeqDR  :
Genes: | | Phenotypes | | | Disease Causing ClinVar Variants | | | MSeqDR Portal | |
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