Diseases of the nervous system
Diseases of myoneural junction and muscle
Autosomal recessive
22q12.3
MDDGB6 is an autosomal recessive congenital muscular dystrophy with mental retardation and structural brain abnormalities. It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan collectively known as 'dystroglycanopathies'
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 608840.1.1 | Lebanon | Female | Yes | Yes | Intellectual disability, mild; Cerebell... Intellectual disability, mild; Cerebellar malformation; Reduced muscle fiber alpha dystroglycan  | LARGE1, 42.9-KB INS/4.1-KB DEL | Homozygous | Autosomal, Recessive | Clarke et al. 2011 | |
| 608840.1.2 | Lebanon | Female | Yes | Yes | Intellectual disability, mild; Cerebell... Intellectual disability, mild; Cerebellar malformation; Reduced muscle fiber alpha dystroglycan | LARGE1, 42.9-KB INS/4.1-KB DEL | Homozygous | Autosomal, Recessive | Clarke et al. 2011 | Sibling of 608840.1.... |