MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 3

General Information (adopted from Orphanet):

Synonyms, Signs: MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED
MDDGB3
Number of Symptoms 19
OrphanetNr:
OMIM Id: 613151
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000252) Microcephaly 832 / 7739
2
(HPO:0000486) Strabismus 576 / 7739
3
(HPO:0000545) Myopia 286 / 7739
4
(HPO:0000648) Optic atrophy 238 / 7739
5
(HPO:0001249) Intellectual disability 1089 / 7739
6
(HPO:0001270) Motor delay 322 / 7739
7
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
8
(HPO:0003560) Muscular dystrophy 88 / 7739
9
(HPO:0003741) Congenital muscular dystrophy 22 / 7739
10
(HPO:0002119) Ventriculomegaly 253 / 7739
11
(OMIM) Only walking achieved 1 / 7739
12
(HPO:0003577) Congenital onset 133 / 7739
13
(HPO:0012110) Hypoplasia of the pons 16 / 7739
14
(OMIM) White matter changes 7 / 7739
15
(HPO:0002350) Cerebellar cyst 14 / 7739
16
(OMIM) Muscle biopsy shows decreased glycosylation of alpha-dystroglycan 9 / 7739
17
(OMIM) Pontine hypoplasia 8 / 7739
18
(HPO:0001321) Cerebellar hypoplasia 114 / 7739
19
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) MDDGB3 is an autosomal recessive congenital muscular dystrophy with mental retardation and mild brain abnormalities (Clement et al., 2008). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan, collectively known as 'dystroglycanopathies' ...
Clinical Description OMIM Clement et al. (2008) reported a 16-year-old patient with POMGNT1-related congenital muscular dystrophy who had mental retardation, myopia, optic atrophy, and increased serum creatine kinase. Brain MRI showed ventricular dilatation, diffuse white matter changes, cerebellar cysts, and pontine ...
Molecular genetics OMIM In a 16-year-old patient with congenital muscular dystrophy and mental retardation, Clement et al. (2008) identified compound heterozygosity for mutations in the POMGNT1 gene (606822.0015 and 606822.0016).

In an Italian patient with congenital muscular dystrophy and ...