Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1

Alternative Names

MDDGB1
Muscular Dystrophy, Congenital, POMT1-Related

Associated Genes

Protein O-Mannosyltransferase 1

Back to search Result

WHO-ICD-10 version:2010

Diseases of the nervous system

Diseases of myoneural junction and muscle

OMIM Number

613155

Gene Map Locus

9q34.13

Description

Congenital muscular dystrophy-dystroglycanopathies with or without impaired intellectual development (type B) represent the intermediate range of the spectrum of dystroglycanopathies. They are less severe than muscular dystrophy-dystroglycanopathy with brain and eye anomalies (MDDGA1), previously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), and more severe than limb-girdle muscular dystrophy-dystroglycanopathy (MDDGC1) MDDGB1 is caused by homozygous or compound heterozygous mutations in the POMT1 gene [from OMIM].

Epidemiology in the Arab World

View Map

Lebanon

Subject ID	Country	Sex	Family History	Parental Consanguinity	HPO Terms	Variant	Zygosity	Mode of Inheritance	Reference	Remarks
613155.1.1	Lebanon	Female	Yes	Yes	Generalized hypotonia; Primary microceph... Generalized hypotonia; Primary microcephaly; Intellectual disability, severe; Delayed speech and language development; Tetraparesis; Strabismus; Scoliosis; Flexion contracture; Hip dislocation; Recurrent fractures; Osteoporosis; Elevated circulating creatine kinase concentration; Respiratory insufficiency due to muscle weakness; Neuromuscular dysphagia; Weight loss; Respiratory tract infection; Death in childhood; Trigonocephaly; Cerebellar vermis hypoplasia	NM_007171.4:c.226G>C, NM_001077365.2:c.443C>A	Heterozygous	Autosomal, Recessive	von der Hagen et al. 2020
613155.1.2	Lebanon	Female	Yes	Yes	Generalized hypotonia; Primary microceph... Generalized hypotonia; Primary microcephaly; Intellectual disability, severe; Delayed speech and language development; Tetraparesis; Strabismus; Scoliosis; Flexion contracture; Hip dislocation; Left ventricular noncompaction cardiomyopathy; Obstructive sleep apnea; Intellectual disability, moderate; Trigonocephaly; Cerebellar vermis hypoplasia; Hypoplasia of the corpus callosum; Focal white matter lesions	NM_007171.4:c.226G>C, NM_001077365.2:c.443C>A	Heterozygous	Autosomal, Recessive	von der Hagen et al. 2020	Younger sister of th...