Diseases of the nervous system
Diseases of myoneural junction and muscle
Autosomal recessive
19q13.32
MDGDC5 is an autosomal recessive muscular dystrophy characterized by variable age at onset, normal cognition, and no structural brain changes. It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan, collectively known as 'dystroglycanopathies'. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 607155.1 | Lebanon | Unknown | Muscular dystrophy; Highly elevated cre... Muscular dystrophy; Highly elevated creatine kinase;  | NM_024301.5:c.823C>T | Homozygous | Autosomal, Recessive | Nair et al. 2018 |