Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: SCAR13
Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency
Number of Symptoms 37
OrphanetNr: 324262
OMIM Id: 614831
ICD-10: G11.1
UMLs:
MeSH:
MedDRA:
Snomed:

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: Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000666) Horizontal nystagmus typical [HPO:skoehler] 32 / 7739
2
 (HPO:0000565) Esotropia typical [HPO:skoehler] 58 / 7739
3
 (HPO:0000508) Ptosis typical [HPO:skoehler] 459 / 7739
4
 (HPO:0000571) Hypometric saccades typical [HPO:skoehler] 10 / 7739
5
 (HPO:0000486) Strabismus 576 / 7739
6
 (HPO:0001488) Bilateral ptosis 42 / 7739
7
 (HPO:0001337) Tremor 200 / 7739
8
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
9
 (HPO:0001260) Dysarthria 329 / 7739
10
 (HPO:0002075) Dysdiadochokinesis 40 / 7739
11
 (HPO:0001249) Intellectual disability 1089 / 7739
12
 (HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
13
 (HPO:0001347) Hyperreflexia 363 / 7739
14
 (HPO:0001310) Dysmetria 76 / 7739
15
 (HPO:0001263) Global developmental delay 853 / 7739
16
 (HPO:0001763) Pes planus 176 / 7739
17
 (HPO:0006136) Bilateral postaxial polydactyly 30 / 7739
18
 (HPO:0004322) Short stature 1232 / 7739
19
 (HPO:0001252) Muscular hypotonia 990 / 7739
20
 (HPO:0010547) Muscle flaccidity 466 / 7739
21
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
22
 (HPO:0001324) Muscle weakness 859 / 7739
23
 (HPO:0003677) Slow progression 134 / 7739
24
 (OMIM) Cerebellar ataxia, gait and stance 2 / 7739
25
 (OMIM) Lack of speech development 20 / 7739
26
 (HPO:0001272) Cerebellar atrophy 197 / 7739
27
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
28
 (OMIM) Never learn to walk (some patients) 2 / 7739
29
 (OMIM) Abduction deficits (about half of patients) 2 / 7739
30
 (OMIM) Small brain size (some patients) 2 / 7739
31
 (OMIM) Tremor, mild 3 / 7739
32
 (OMIM) Mild pyramidal signs (variable expression) 4 / 7739
33
 (HPO:0003593) Infantile onset 249 / 7739
34
 (OMIM) Mental retardation, mild to profound 3 / 7739
35
 (HPO:0007068) Inferior vermis hypoplasia 6 / 7739
36
 (HPO:0002119) Ventriculomegaly 253 / 7739
37
 (HPO:0006951) Retrocerebellar cyst 6 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Autosomal recessive spinocerebellar ataxia-13 is an autosomal recessive neurologic disorder characterized by delayed psychomotor development beginning in infancy. Affected individuals show mild to profound mental retardation with poor or absent speech as well as gait and stance ataxia ...
Clinical Description OMIM Guergueltcheva et al. (2012) reported 10 patients from 5 families with spinocerebellar ataxia. All families belonged to the Roma Bowlmaker ethnic group in Bulgaria, a young Gypsy population subisolate with low genetic diversity. The patients ranged in age ...
Molecular genetics OMIM In 10 affected individuals from 5 Bulgarian families of Roma Bowlmaker Gypsy origin with autosomal recessive spinocerebellar ataxia, Guergueltcheva et al. (2012) identified a homozygous mutation in the GRM1 gene (604473.0001) that generated various aberrant transcripts lacking important ...