Disease #01108 (MDDGB2 (dystrophy-dystroglycanopathy, muscular, (congenital with mental retardation), type B2), OMIM:613156)

Official abbreviation MDDGB2
Name dystrophy-dystroglycanopathy, muscular, (congenital with mental retardation), type B2
OMIM ID 613156
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 3
Phenotype entries for this disease 3
Associated with 1 gene POMT2
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2024-01-12 21:42:57 +01:00 (CET)


Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00445032 - - 2 affected (twins) M no Argentina - - - - - MDDGB2 HP:0003560 Muscular dystrophy HP:0001263 Global developmental delay HP:0001319 Neonatal hypotonia HP:0003701 Proximal muscle weakness HP:0003236 Elevated circulating creatine kinase concentration HP:0030099 Reduced muscle fiber alpha dystroglycan POMT2 POMT2 1 2 María Eugenia Foncuberta
00445076 - - 2 affected (twins), Sibling of 00445032 M no Argentina - - - - - MDDGB2 HP:0003560 Muscular dystrophy HP:0001263 Global developmental delay HP:0001319 Neonatal hypotonia HP:0003701 Proximal muscle weakness HP:0003236 Elevated circulating creatine kinase concentration HP:0011968 Feeding difficulties - POMT2 1 1 María Eugenia Foncuberta
00458089 - - Sister with congenital muscular dystrophy, alpha-dystroglycan deficiency on muscle biopsy F no Argentina - - - - - MDDGB2 HP:0001385 Hip dysplasia (3 m), HP:0001319 Neonatal hypotonia, HP:0003560 Global developmental delay, HP:0003701 Proximal muscle weakness, HP:0003236 Elevated circulating creatine kinase concentration, HP:0000252 microcephaly; HP:0030099 Reduced muscle fiber alpha dystroglycan in her sister muscle biospy - POMT2 1 1 María Eugenia Foncuberta
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