Muscle-eye-brain disease

General Information (adopted from Orphanet):

Synonyms, Signs: Muscle-eye-brain syndrome
Santavuori congenital muscular dystrophy
MEB syndrome
Number of Symptoms 65
OrphanetNr: 588
OMIM Id: 236670
253280
253800
613150
613153
613154
615181
615350
ICD-10: Q04.3
UMLs: C0457133
MeSH:
MedDRA:
Snomed: 277950001

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital disorder of glycosylation with developmental anomaly
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Congenital disorder of glycosylation with epilepsy as a major feature
 -Rare genetic disease
 -Rare neurologic disease
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
 -Rare developmental defect during embryogenesis
 -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
Qualitative or quantitative defects of FKRP
 -Rare genetic disease
Qualitative or quantitative defects of fukutin
 -Rare genetic disease
Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase
 -Rare genetic disease
Qualitative or quantitative defects of protein O-mannosyltransferase 2
 -Rare genetic disease
Syndromic myopia
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000110) Renal dysplasia 44 / 7739
2
 (HPO:0000050) Hypoplastic male external genitalia 10 / 7739
3
 (HPO:0002085) Occipital encephalocele 20 / 7739
4
 (HPO:0000568) Microphthalmia 183 / 7739
5
 (HPO:0000252) Microcephaly 832 / 7739
6
 (HPO:0006888) Meningoencephalocele 3 / 7739
7
 (HPO:0007291) Posterior fossa cyst 10 / 7739
8
 (HPO:0001305) Dandy-Walker malformation 79 / 7739
9
 (HPO:0000204) Cleft upper lip 193 / 7739
10
 (HPO:0000175) Cleft palate 349 / 7739
11
 (HPO:0001105) Retinal atrophy 10 / 7739
12
 (HPO:0000659) Peters anomaly 10 / 7739
13
 (HPO:0000557) Buphthalmos 16 / 7739
14
 (HPO:0000501) Glaucoma Very frequent [Orphanet] 180 / 7739
15
 (HPO:0000486) Strabismus Very frequent [Orphanet] 576 / 7739
16
 (HPO:0000485) Megalocornea 26 / 7739
17
 (HPO:0000545) Myopia Very frequent [Orphanet] 286 / 7739
18
 (HPO:0000609) Optic nerve hypoplasia 26 / 7739
19
 (HPO:0007973) Retinal dysplasia 27 / 7739
20
 (HPO:0007957) Corneal opacity 84 / 7739
21
 (HPO:0000589) Coloboma 47 / 7739
22
 (HPO:0000505) Visual impairment Very frequent [Orphanet] 297 / 7739
23
 (HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
24
 (HPO:0000618) Blindness 124 / 7739
25
 (HPO:0000541) Retinal detachment 87 / 7739
26
 (HPO:0000413) Atresia of the external auditory canal 32 / 7739
27
 (HPO:0008551) Microtia 98 / 7739
28
 (HPO:0002189) Excessive daytime sleepiness 8 / 7739
29
 (HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
30
 (HPO:0001263) Global developmental delay 853 / 7739
31
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
32
 (HPO:0002187) Intellectual disability, profound 44 / 7739
33
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
34
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
35
 (HPO:0002353) EEG abnormality Very frequent [Orphanet] 188 / 7739
36
 (HPO:0004374) Hemiplegia/hemiparesis Occasional [Orphanet] 158 / 7739
37
 (HPO:0100022) Abnormality of movement Frequent [Orphanet] 129 / 7739
38
 (HPO:0010864) Intellectual disability, severe 120 / 7739
39
 (HPO:0002435) Meningocele Occasional [Orphanet] 23 / 7739
40
 (HPO:0002803) Congenital contracture 45 / 7739
41
 (HPO:0002023) Anal atresia 135 / 7739
42
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
43
 (HPO:0001608) Abnormality of the voice Frequent [Orphanet] 126 / 7739
44
 (HPO:0003198) Myopathy Very frequent [Orphanet] 151 / 7739
45
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
46
 (HPO:0003457) EMG abnormality Very frequent [Orphanet] 78 / 7739
47
 (HPO:0006829) Severe muscular hypotonia 29 / 7739
48
 (HPO:0003741) Congenital muscular dystrophy 22 / 7739
49
 (HPO:0000238) Hydrocephalus Very frequent [Orphanet] 278 / 7739
50
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
51
 (HPO:0002126) Polymicrogyria 64 / 7739
52
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
53
 (HPO:0001302) Pachygyria 60 / 7739
54
 (HPO:0002334) Abnormality of the cerebellar vermis Occasional [Orphanet] 137 / 7739
55
 (HPO:0012795) Abnormality of the optic disc Very frequent [Orphanet] 187 / 7739
56
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
57
 (HPO:0007260) Type II lissencephaly 13 / 7739
58
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
59
 (HPO:0006891) Thick cerebral cortex 2 / 7739
60
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
61
 (HPO:0001425) Heterogeneous 132 / 7739
62
 (HPO:0007033) Cerebellar dysplasia 13 / 7739
63
 (HPO:0012443) Abnormality of brain morphology Occasional [Orphanet] 45 / 7739
64
 (HPO:0002365) Hypoplasia of the brainstem 41 / 7739
65
 (HPO:0030089) Abnormal muscle fiber protein expression Very frequent [Orphanet] 64 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: