Corneal-cerebellar syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: CORNEAL-CEREBELLAR SYNDROME
CORNEAL DYSTROPHY WITH SPINOCEREBELLAR DEGENERATION
Spinocerebellar degeneration - corneal dystrophy
Der Kaloustian-Jarudi-Khoury syndrome
Number of Symptoms 26
OrphanetNr: 3177
OMIM Id: 271310
ICD-10:
UMLs: C1849087
MeSH: C535472
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare hereditary ataxia
 -Rare genetic disease
 -Rare neurologic disease
Syndromic corneal dystrophy
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
2
 (HPO:0000325) Triangular face Frequent [Orphanet] 91 / 7739
3
 (HPO:0001131) Corneal dystrophy 56 / 7739
4
 (HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
5
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
6
 (HPO:0000572) Visual loss Very frequent [Orphanet] 272 / 7739
7
 (HPO:0000481) Abnormality of the cornea Very frequent [Orphanet] 124 / 7739
8
 (HPO:0007957) Corneal opacity 84 / 7739
9
 (HPO:0001141) Severe visual impairment 11 / 7739
10
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
11
 (HPO:0004374) Hemiplegia/hemiparesis Very frequent [Orphanet] 158 / 7739
12
 (HPO:0001249) Intellectual disability 1089 / 7739
13
 (HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
14
 (HPO:0001251) Ataxia 413 / 7739
15
 (HPO:0100022) Abnormality of movement Frequent [Orphanet] 129 / 7739
16
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
17
 (HPO:0002353) EEG abnormality Very frequent [Orphanet] 188 / 7739
18
 (HPO:0003307) Hyperlordosis Frequent [Orphanet] 122 / 7739
19
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
20
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
21
 (HPO:0002503) Spinocerebellar tract degeneration 8 / 7739
22
 (OMIM) Variable dorsal column and upper motor neuron involvement 1 / 7739
23
 (OMIM) Corneal histology shows edema, thickened Descemet membrane, and degenerative pannus 1 / 7739
24
 (HPO:0030089) Abnormal muscle fiber protein expression Very frequent [Orphanet] 64 / 7739
25
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
26
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: