Muscular dystrophy and myopathy_Paediatric

Gene: TMEM5

Green List (high evidence)

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. Brain imaging shows cobblestone lissencephaly. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). At least 7 unrelated families reported.

Created: 29 Aug 2020, 3:10 a.m. | Last Modified: 29 Aug 2020, 3:10 a.m.

Panel Version: 0.70

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041

Publications

• 23217329
• 23519211

Green List (high evidence)

>3 cases reported with muscular dystrophy
Sources: Expert Review

Created: 25 Feb 2020, 12:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 MIM#615041

Publications

• 23217329