MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 10

General Information (adopted from Orphanet):

Synonyms, Signs: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, TMEM5-RELATED
MDDGA10
Number of Symptoms 9
OrphanetNr:
OMIM Id: 615041
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000133) Gonadal dysgenesis 21 / 7739
2
(HPO:0007973) Retinal dysplasia 27 / 7739
3
(HPO:0003560) Muscular dystrophy 88 / 7739
4
(HPO:0007260) Type II lissencephaly 13 / 7739
5
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
6
(OMIM) Limb deformation (rare) 2 / 7739
7
(OMIM) Occipital neural tube defects 1 / 7739
8
(OMIM) Visceral malformations 2 / 7739
9
(HPO:0007033) Cerebellar dysplasia 13 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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. The brain ...
Clinical Description OMIM Vuillaumier-Barrot et al. (2012) reported 5 unrelated families in which a total of 9 fetuses were affected with severe cobblestone lissencephaly. Most also had occipital neural tube defects, facial clefts, visceral malformations, retinal dysplasia, and gonadal dysgenesis. ...
Molecular genetics OMIM In 9 fetuses with severe cobblestone lissencephaly consistent with muscular dystrophy-dystroglycanopathy type A, Vuillaumier-Barrot et al. (2012) identified 5 different mutations in homozygous or compound heterozygous state in the TMEM5 gene (605862.0001-605862.0005). The first mutation was identified by ...