Disease #03904 (MDDGB14 (dystrophy-dystroglycanopathy, muscular, (congenital with mental retardation), type B14), OMIM:615351)

Official abbreviation MDDGB14
Name dystrophy-dystroglycanopathy, muscular, (congenital with mental retardation), type B14
OMIM ID 615351
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene GMPPB
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2024-01-12 21:33:14 +01:00 (CET)


Individuals

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00451667 296357 - - F yes ? (unknown) - - - - - MDDGB14 Myopathy, Motor delay, Gait disturbance, Lower limb muscle weakness, Elevated circulating creatine kinase concentration, CK elevation ~2300 U/l, known consanguinity of the parents (1st cousin), three siblings of the mother died at 6-12 months of age GMPPB GMPPB 1 1 Andreas Laner
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