Congenital muscular dystrophy with cerebellar involvement

General Information (adopted from Orphanet):

Synonyms, Signs: CMD-CRB
CMD with cerebellar involvement
Number of Symptoms 37
OrphanetNr: 370959
OMIM Id: 606612
613151
613155
613156
615351
ICD-10: G71.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital muscular dystrophy due to dystroglycanopathy
 -Rare genetic disease
 -Rare neurologic disease
Disorder of O-mannosylglycan synthesis
 -Rare genetic disease
Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly 832 / 7739
2
 (HPO:0010628) Facial palsy 146 / 7739
3
 (HPO:0000158) Macroglossia 119 / 7739
4
 (HPO:0002355) Difficulty walking 61 / 7739
5
 (HPO:0001249) Intellectual disability 1089 / 7739
6
 (HPO:0002359) Frequent falls 24 / 7739
7
 (HPO:0002194) Delayed gross motor development 37 / 7739
8
 (HPO:0001771) Achilles tendon contracture 27 / 7739
9
 (HPO:0003547) Shoulder girdle muscle weakness 21 / 7739
10
 (HPO:0002650) Scoliosis 705 / 7739
11
 (HPO:0002948) Vertebral fusion 28 / 7739
12
 (HPO:0003307) Hyperlordosis 122 / 7739
13
 (HPO:0008981) Calf muscle hypertrophy 28 / 7739
14
 (HPO:0002808) Kyphosis 289 / 7739
15
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
16
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
17
 (HPO:0002111) Restrictive deficit on pulmonary function testing 25 / 7739
18
 (HPO:0003551) Difficulty climbing stairs 23 / 7739
19
 (HPO:0003741) Congenital muscular dystrophy 22 / 7739
20
 (HPO:0003458) EMG: myopathic abnormalities 38 / 7739
21
 (HPO:0007126) Proximal amyotrophy 29 / 7739
22
 (HPO:0003733) Thigh hypertrophy 2 / 7739
23
 (HPO:0003394) Muscle cramps 106 / 7739
24
 (HPO:0003724) Shoulder girdle muscle atrophy 14 / 7739
25
 (HPO:0003701) Proximal muscle weakness 105 / 7739
26
 (HPO:0003324) Generalized muscle weakness 48 / 7739
27
 (HPO:0001319) Neonatal hypotonia 101 / 7739
28
 (HPO:0003326) Myalgia 143 / 7739
29
 (HPO:0003828) Variable expressivity 130 / 7739
30
 (HPO:0001302) Pachygyria rare [HPO:skoehler] 60 / 7739
31
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
32
 (HPO:0003577) Congenital onset 133 / 7739
33
 (HPO:0002119) Ventriculomegaly rare [HPO:skoehler] 253 / 7739
34
 (HPO:0001272) Cerebellar atrophy 197 / 7739
35
 (HPO:0002350) Cerebellar cyst 14 / 7739
36
 (HPO:0040083) Toe walking 15 / 7739
37
 (HPO:0002500) Abnormality of the cerebral white matter 73 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: