MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 2

General Information (adopted from Orphanet):

Synonyms, Signs: MDDGB2
MUSCULAR DYSTROPHY, CONGENITAL, POMT2-RELATED
Number of Symptoms 38
OrphanetNr:
OMIM Id: 613156
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:0000028) Cryptorchidism 347 / 7739
2
(HPO:0000054) Micropenis 257 / 7739
3
(HPO:0000194) Open mouth 70 / 7739
4
(HPO:0000252) Microcephaly 832 / 7739
5
(HPO:0010628) Facial palsy 146 / 7739
6
(HPO:0000158) Macroglossia 119 / 7739
7
(HPO:0000486) Strabismus 576 / 7739
8
(HPO:0000545) Myopia 286 / 7739
9
(HPO:0000580) Pigmentary retinopathy rare [HPO:skoehler] 49 / 7739
10
(HPO:0001284) Areflexia 198 / 7739
11
(HPO:0001249) Intellectual disability 1089 / 7739
12
(HPO:0001265) Hyporeflexia 208 / 7739
13
(HPO:0001270) Motor delay 322 / 7739
14
(HPO:0003307) Hyperlordosis 122 / 7739
15
(HPO:0002650) Scoliosis 705 / 7739
16
(HPO:0002827) Hip dislocation 94 / 7739
17
(HPO:0001371) Flexion contracture 220 / 7739
18
(HPO:0001712) Left ventricular hypertrophy rare [HPO:skoehler] 76 / 7739
19
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
20
(HPO:0002093) Respiratory insufficiency 410 / 7739
21
(HPO:0003560) Muscular dystrophy 88 / 7739
22
(HPO:0001252) Muscular hypotonia 990 / 7739
23
(HPO:0003712) Skeletal muscle hypertrophy 42 / 7739
24
(HPO:0003741) Congenital muscular dystrophy 22 / 7739
25
(HPO:0003701) Proximal muscle weakness 105 / 7739
26
(HPO:0003324) Generalized muscle weakness 48 / 7739
27
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
28
(OMIM) Flat pons 1 / 7739
29
(HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
30
(HPO:0002119) Ventriculomegaly 253 / 7739
31
(OMIM) Lack of speech development 20 / 7739
32
(OMIM) Patients may only achieve sitting or walking 1 / 7739
33
(HPO:0002518) Abnormality of the periventricular white matter 24 / 7739
34
(OMIM) Hypotonia, congenital 1 / 7739
35
(OMIM) Stiff, hyperextended neck 1 / 7739
36
(HPO:0001321) Cerebellar hypoplasia 114 / 7739
37
(HPO:0002120) Cerebral cortical atrophy 187 / 7739
38
(OMIM) Muscle biopsy shows decreased glycosylation of alpha-dystroglycan 9 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) MDDGB2 is an autosomal recessive congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities (Yanagisawa et al., 2007). It is part of a group of similar disorders resulting from defective glycosylation of DAG1, collectively known ...
Clinical Description OMIM Yanagisawa et al. (2007) reported 4 patients with POMT2-related congenital muscular dystrophy. At birth, each presented with hypotonia, microcephaly, and delayed psychomotor development associated with severe mental retardation. They had severe diffuse muscle weakness in the face, trunk, ...
Molecular genetics OMIM In 4 unrelated patients with congenital muscular dystrophy and severe mental retardation, Yanagisawa et al. (2007) identified homozygous or compound heterozygous mutations in the POMT2 gene (607439.0004-607439.0006).

In 2 sibs with congenital muscular dystrophy and low ...