COCKAYNE SYNDROME, TYPE III

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 44
OrphanetNr:
OMIM Id: 216411
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000096) Glomerulosclerosis 11 / 7739
2
 (HPO:0000093) Proteinuria 169 / 7739
3
 (HPO:0000252) Microcephaly 832 / 7739
4
 (HPO:0000303) Mandibular prognathia 179 / 7739
5
 (HPO:0000649) Abnormality of visual evoked potentials 34 / 7739
6
 (HPO:0000648) Optic atrophy 238 / 7739
7
 (HPO:0000546) Retinal degeneration 61 / 7739
8
 (HPO:0007814) Retinal pigment epithelial mottling 5 / 7739
9
 (HPO:0000377) Abnormality of the pinna 111 / 7739
10
 (HPO:0000365) Hearing impairment 539 / 7739
11
 (HPO:0000726) Dementia 131 / 7739
12
 (HPO:0003130) Abnormal peripheral myelination 3 / 7739
13
 (HPO:0006958) Abnormal auditory evoked potentials 12 / 7739
14
 (HPO:0001249) Intellectual disability 1089 / 7739
15
 (HPO:0001288) Gait disturbance 318 / 7739
16
 (HPO:0001371) Flexion contracture 220 / 7739
17
 (HPO:0001176) Large hands 43 / 7739
18
 (HPO:0001833) Long foot 33 / 7739
19
 (HPO:0002514) Cerebral calcification 89 / 7739
20
 (HPO:0003510) Severe short stature 90 / 7739
21
 (HPO:0000987) Atypical scarring of skin 58 / 7739
22
 (HPO:0000992) Cutaneous photosensitivity 75 / 7739
23
 (HPO:0007495) Prematurely aged appearance 44 / 7739
24
 (HPO:0001000) Abnormality of skin pigmentation 105 / 7739
25
 (HPO:0004334) Dermal atrophy 34 / 7739
26
 (HPO:0000822) Hypertension 224 / 7739
27
 (HPO:0002621) Atherosclerosis 33 / 7739
28
 (HPO:0003357) Thymic hormone decreased 2 / 7739
29
 (HPO:0100699) Scarring 9 / 7739
30
 (OMIM) Sensitivity to sunlight 1 / 7739
31
 (OMIM) Large hands and feet 3 / 7739
32
 (OMIM) Corneal desiccation 1 / 7739
33
 (MedDRA:10003694) Atrophy 7 / 7739
34
 (OMIM) Abnormal myelination in sural nerve biopsies 3 / 7739
35
 (OMIM) Poor lid closure 1 / 7739
36
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
37
 (HPO:0011400) Abnormal CNS myelination 10 / 7739
38
 (OMIM) Disturbed visual and brainstem auditory evoked responses indicative of CNS demyelination 3 / 7739
39
 (HPO:0002343) Normal pressure hydrocephalus 6 / 7739
40
 (OMIM) Disproportionately long limbs 1 / 7739
41
 (OMIM) 'Hollow', sunken eye appearance 1 / 7739
42
 (OMIM) At least 2 complementation groups 2 / 7739
43
 (OMIM) Mandible:Prognathism 1 / 7739
44
 (OMIM) Marble epiphyses in some digits 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: