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muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4

Disease Summary
Associated Targets (14)
Tbio

14


Mondo Description Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.
Uniprot Description An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease.
Disease Ontology Description A congenital muscular dystrophy that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein.
Mondo Term and Equivalent IDs
MONDO:0009678:  muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
NCIT:C126741: 
Orphanet:272: 
SCTID:111502003: 
UMLS:C0410174: