Disease #00817 (MDDGB6 (dystrophy, muscular, dystroglycanopathy (congenital with mental retardation), type B6), OMIM:608840)

Official abbreviation MDDGB6
Name dystrophy, muscular, dystroglycanopathy (congenital with mental retardation), type B6
OMIM ID 608840
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 LARGE
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Individuals

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00101230 29065428-Pat2 PubMed: Navarro-Cobos 2017 2-generation family, 1 affected M no Mexico Mexican ? 0 yes - MDDGB6 6m-generalized hypotonia, facial weakness, severe motor delay; 14m-independent ambulation started, but lost at 24m; 11y-low weight and height, weakness and generalized muscular wasting, absence of osteotendinous reflexes, and scoliosis on X-ray chest evaluation FKRP FKRP 1 1 Miguel Angel Alcántara-Ortigoza
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