Spinocerebellar ataxia - dysmorphism

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 44
OrphanetNr: 1185
OMIM Id: 271270
ICD-10: G11.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Rare hereditary ataxia
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000520) Proptosis Very frequent [Orphanet] 192 / 7739
2
 (HPO:0000639) Nystagmus Very frequent [Orphanet] 555 / 7739
3
 (HPO:0000508) Ptosis Very frequent [Orphanet] 459 / 7739
4
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
5
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
6
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
7
 (HPO:0010547) Muscle flaccidity 466 / 7739
8
 (HPO:0003457) EMG abnormality Very frequent [Orphanet] 78 / 7739
9
 (HPO:0001324) Muscle weakness 859 / 7739
10
 (HPO:0001251) Ataxia 413 / 7739
11
 (HPO:0003487) Babinski sign 179 / 7739
12
 (HPO:0001260) Dysarthria 329 / 7739
13
 (HPO:0001263) Global developmental delay 853 / 7739
14
 (HPO:0001315) Reduced tendon reflexes Very frequent [Orphanet] 160 / 7739
15
 (HPO:0001265) Hyporeflexia 208 / 7739
16
 (HPO:0001760) Abnormality of the foot 96 / 7739
17
 (HPO:0002816) Genu recurvatum Very frequent [Orphanet] 30 / 7739
18
 (HPO:0002967) Cubitus valgus Very frequent [Orphanet] 49 / 7739
19
 (HPO:0000268) Dolichocephaly Very frequent [Orphanet] 144 / 7739
20
 (HPO:0000337) Broad forehead Very frequent [Orphanet] 116 / 7739
21
 (HPO:0000256) Macrocephaly Frequent [Orphanet] 298 / 7739
22
 (HPO:0002650) Scoliosis 705 / 7739
23
 (HPO:0003298) Spina bifida occulta Frequent [Orphanet] 67 / 7739
24
 (HPO:0004349) Reduced bone mineral density Very frequent [Orphanet] 165 / 7739
25
 (HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
26
 (HPO:0003100) Slender long bone Very frequent [Orphanet] 45 / 7739
27
 (HPO:0002208) Coarse hair Very frequent [Orphanet] 58 / 7739
28
 (HPO:0000280) Coarse facial features 189 / 7739
29
 (HPO:0000179) Thick lower lip vermilion 72 / 7739
30
 (HPO:0012471) Thick vermilion border Very frequent [Orphanet] 115 / 7739
31
 (HPO:0002714) Downturned corners of mouth Very frequent [Orphanet] 98 / 7739
32
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
33
 (HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
34
 (HPO:0000286) Epicanthus Very frequent [Orphanet] 371 / 7739
35
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
36
 (HPO:0000974) Hyperextensible skin Very frequent [Orphanet] 59 / 7739
37
 (HPO:0002334) Abnormality of the cerebellar vermis Very frequent [Orphanet] 137 / 7739
38
 (HPO:0012795) Abnormality of the optic disc Frequent [Orphanet] 187 / 7739
39
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
40
 (HPO:0001272) Cerebellar atrophy 197 / 7739
41
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
42
 (OMIM) Abundant hair 1 / 7739
43
 (OMIM) Mild palpebral ptosis 1 / 7739
44
 (OMIM) Rough hair 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: