MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 1

General Information (adopted from Orphanet):

Synonyms, Signs: MDDGB1
MUSCULAR DYSTROPHY, CONGENITAL, POMT1-RELATED
Number of Symptoms 31
OrphanetNr:
OMIM Id: 613155
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Infantile 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:0000158) Macroglossia 119 / 7739
3
(HPO:0010628) Facial palsy 146 / 7739
4
(HPO:0001135) Chorioretinal dystrophy 18 / 7739
5
(HPO:0000556) Retinal dystrophy rare [HPO:skoehler] 65 / 7739
6
(HPO:0007973) Retinal dysplasia 27 / 7739
7
(HPO:0000545) Myopia rare [HPO:skoehler] 286 / 7739
8
(HPO:0007731) Chorioretinal dysplasia 16 / 7739
9
(HPO:0000519) Congenital cataract rare [HPO:skoehler] 73 / 7739
10
(HPO:0010864) Intellectual disability, severe 120 / 7739
11
(HPO:0002540) Inability to walk 19 / 7739
12
(HPO:0001263) Global developmental delay 853 / 7739
13
(HPO:0001344) Absent speech 57 / 7739
14
(HPO:0001371) Flexion contracture 220 / 7739
15
(HPO:0001638) Cardiomyopathy rare [HPO:skoehler] 192 / 7739
16
(HPO:0001637) Abnormality of the myocardium 76 / 7739
17
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
18
(HPO:0003560) Muscular dystrophy 88 / 7739
19
(HPO:0003741) Congenital muscular dystrophy 22 / 7739
20
(OMIM) Periventricular white matter changes 7 / 7739
21
(OMIM) Decreased glycosylation of alpha-dystroglycan 6 / 7739
22
(HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
23
(OMIM) Some patients have no structural brain abnormalities 1 / 7739
24
(HPO:0007033) Cerebellar dysplasia 13 / 7739
25
(MedDRA:10049694) Left ventricular dysfunction 10 / 7739
26
(OMIM) Muscle pseudohypertrophy 3 / 7739
27
(OMIM) Hypotonia at birth 1 / 7739
28
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
29
(HPO:0001321) Cerebellar hypoplasia 114 / 7739
30
(HPO:0002280) Enlarged cisterna magna 12 / 7739
31
(HPO:0003593) Infantile onset 249 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Congenital muscular dystrophies resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239) are characterized by early onset of muscle weakness, usually before ambulation is achieved; mental retardation and mild brain anomalies are variable (Balci et al., 2005; Godfrey et ...
Clinical Description OMIM Villanova et al. (2000) reported 4 Italian patients from 3 families affected with an autosomal recessive form of congenital muscular dystrophy. One of the patients was previously reported by De Stefano et al. (1996). The phenotype was similar ...
Molecular genetics OMIM In 3 patients from 2 families reported by Villanova et al. (2000), van Reeuwijk et al. (2006) identified compound heterozygous mutations in the POMT1 gene (607423.0006-607423.0009).

In 3 unrelated patients with a severe form of congenital ...