Engelsk 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.
Svenska synonymer
Inga svenska synonymer finns.
Engelska synonymer
Syndrome, Walker-Warburg — Walker Warburg Syndrome — Chemke Syndrome — Syndrome, Chemke — Warburg Syndrome — Syndrome, Warburg — HARD Syndrome — HARD Syndromes — Syndrome, HARD — Hydrocephalus, Agyria, And Retinal Dysplasia — Pagon Syndrome — Pagon Syndromes — Syndrome, Pagon — Cerebroocular Dysplasia-Muscular Dystrophy Syndrome — Cerebroocular Dysplasia Muscular Dystrophy Syndrome — COD-MD Syndrome — COD MD Syndrome — COD-MD Syndromes — Syndrome, COD-MD — Muscular Dystrophy, Limb-Girdle, Type 2K — Muscular Dystrophy, Limb-Girdle, Autosomal Recessive, With Mental Retardation — Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 — LGMD2K — Fukuyama Type Congenital Muscular Dystrophy — Fukuyama CMD — CMD, Fukuyama — Fukuyama Congenital Muscular Dystrophy — Fukuyama Muscular Dystrophy — Dystrophy, Fukuyama Muscular — Muscular Dystrophy, Fukuyama — Muscular Dystrophy, Congenital, Fukuyama Type — Muscular Dystrophy due to Defective Glycosylation of Dystroglycan 4A — Walker-Warburg Syndrome, Fktn-Related — Fktn-Related Walker-Warburg Syndrome — Fktn-Related Walker-Warburg Syndromes — Syndrome, Fktn-Related Walker-Warburg — Walker Warburg Syndrome, Fktn Related — Cerebromuscular Dystrophy, Fukuyama Type — Fukuyama Syndrome — Syndrome, Fukuyama — Muscle-Eye-Brain Disease — Muscle-Eye-Brain Diseases — Muscle Eye Brain Disease — MEB (Muscle-Eye-Brain) Syndrome — Muscle-Eye-Brain Disease, POMT1-Related — Disease, POMT1-Related Muscle-Eye-Brain — Muscle Eye Brain Disease, POMT1 Related — Muscle-Eye-Brain Diseases, POMT1-Related — POMT1-Related Muscle-Eye-Brain Disease — POMT1-Related Muscle-Eye-Brain Diseases — Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 1 — Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A1 — Congenital Muscular Dystrophy Dystroglycanopathy with Brain and Eye Anomalies, Type A1 — MDDGA1 — alpha-Dystroglycanopathies — alpha Dystroglycanopathies