ATAXIA-TELANGIECTASIA-LIKE DISORDER 2

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 14
OrphanetNr:
OMIM Id: 615919
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly rare [HPO:skoehler] 832 / 7739
2
 (HPO:0000613) Photophobia 158 / 7739
3
 (HPO:0000524) Conjunctival telangiectasia 17 / 7739
4
 (HPO:0002015) Dysphagia 301 / 7739
5
 (HPO:0001263) Global developmental delay 853 / 7739
6
 (HPO:0002317) Unsteady gait 45 / 7739
7
 (HPO:0001251) Ataxia 413 / 7739
8
 (HPO:0001260) Dysarthria 329 / 7739
9
 (HPO:0001761) Pes cavus 225 / 7739
10
 (HPO:0001371) Flexion contracture rare [HPO:skoehler] 220 / 7739
11
 (HPO:0000992) Cutaneous photosensitivity 75 / 7739
12
 (HPO:0001324) Muscle weakness 859 / 7739
13
 (HPO:0001272) Cerebellar atrophy 197 / 7739
14
 (HPO:0002180) Neurodegeneration 31 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: