Walker-Warburg Syndrome

Name	Walker-Warburg Syndrome
Synonyms	alpha Dystroglycanopathies \| alpha-Dystroglycanopathies \| Cerebromuscular Dystrophy, Fukuyama Type \| Cerebroocular Dysplasia Muscular Dystrophy Syndrome \| Cerebroocular Dysplasia-Muscular Dystrophy Syndrome \| Chemke Syndrome \| CMD, Fukuyama \| COD MD Syndrome \| COD-MD Syndrome \| COD-MD Syndromes \| Congenital Muscular Dystrophy Dystroglycanopathy with Brain and Eye Anomalies, Type A1 \| Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A1 \| Disease, POMT1-Related Muscle-Eye-Brain \| Diseases, POMT1-Related Muscle-Eye-Brain \| Dystrophy, Fukuyama Muscular \| FCMD \| Fukuyama CMD \| Fukuyama Congenital Muscular Dystrophy \| Fukuyama Muscular Dystrophy \| Fukuyama Syndrome \| Fukuyama Type Congenital Muscular Dystrophy \| HARD Syndrome \| HARD Syndromes \| Hydrocephalus, Agyria, And Retinal Dysplasia \| LGMD2K \| MDDGA1 \| MDDGA10 \| MDDGA11 \| MDDGA12 \| MDDGA13 \| MDDGA14 \| MDDGA2 \| MDDGA3 \| MDDGA4 \| MDDGA5 \| MDDGA6 \| MDDGA7 \| MDDGA8 \| MDDGA9 \| MEB (Muscle-Eye-Brain) Syndrome \| Muscle Eye Brain Disease \| Muscle-Eye-Brain Disease \| Muscle Eye Brain Disease, POMT1 Related \| Muscle-Eye-Brain Disease, POMT1-Related \| Muscle-Eye-Brain Diseases \| Muscle-Eye-Brain Diseases, POMT1-Related \| Muscular Dystrophy, Congenital, Fukuyama Type \| Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 1 \| 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, 13 \| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 \| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 \| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 \| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 \| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 \| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 \| 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 A, 9 \| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 \| Muscular Dystrophy, Fukuyama \| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive, With Mental Retardation \| Muscular Dystrophy, Limb-Girdle, Type 2K \| Pagon Syndrome \| Pagon Syndromes \| POMT1-Related Muscle-Eye-Brain Disease \| POMT1-Related Muscle-Eye-Brain Diseases \| Syndrome, Chemke \| Syndrome, COD-MD \| Syndrome, Fukuyama \| Syndrome, HARD \| Syndrome, Pagon \| Syndromes, COD-MD \| Syndromes, HARD \| Syndromes, Pagon \| Syndrome, Walker-Warburg \| Syndrome, Warburg \| Walker Warburg Syndrome \| WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, B3GALNT2-RELATED \| WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, B3GNT1-RELATED \| WALKER-WARBURG SYNDROME OR MUSCLE-EYE BRAIN DISEASE, DAG1-RELATED \| WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKRP-RELATED \| WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKTN-RELATED \| WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, GMPPB-RELATED \| WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, GTDC2-RELATED \| WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED \| WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, LARGE-RELATED \| WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED \| WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED \| WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED \| WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT2-RELATED \| WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, TMEM5-RELATED \| Warburg Syndrome
Definition	Rare autosomal recessive lissencephaly type 2 associated with congenital MUSCULAR DYSTROPHY and eye anomalies (e.g., RETINAL DETACHMENT; CATARACT; MICROPHTHALMOS). It is often associated with additional brain malformations such as HYDROCEPHALY and cerebellar hypoplasia and is the most severe form of the group of related syndromes (alpha-dystroglycanopathies) with common congenital abnormalities in the brain, eye and muscle development.
Categories	Congenital abnormality \| Eye disease \| Genetic disease (inborn) \| Nervous system disease
MeSH^® ID	D058494
OMIM^® IDs	236670 \| 253280 \| 253800 \| 613150 \| 613153 \| 613154 \| 614643 \| 614830 \| 615041 \| 615181 \| 615249 \| 615287 \| 615350 \| 616538

Top ↑ Ancestors

1.	Diseases ← Nervous System Diseases ← Nervous System Malformations ← Malformations of Cortical Development ← Malformations of Cortical Development, Group II ← Lissencephaly ← Cobblestone Lissencephaly ← Walker-Warburg Syndrome
2.	Diseases ← Eye Diseases ← Eye Diseases, Hereditary ← Walker-Warburg Syndrome
3.	Diseases ← Congenital, Hereditary, and Neonatal Diseases and Abnormalities ← Congenital Abnormalities ← Nervous System Malformations ← Malformations of Cortical Development ← Malformations of Cortical Development, Group II ← Lissencephaly ← Cobblestone Lissencephaly ← Walker-Warburg Syndrome
4.	Diseases ← Congenital, Hereditary, and Neonatal Diseases and Abnormalities ← Genetic Diseases, Inborn ← Muscular Dystrophies ← Walker-Warburg Syndrome

Top ↑ Descendants

Walker-Warburg Syndrome
	COD (cerebroocular dysgenesis)
	Muscular dystrophy, congenital, with central nervous system involvement
	Walker-Warburg Syndrome, Fktn-Related