Ataxia - photosensitivity - short stature

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 16
OrphanetNr: 1184
OMIM Id:
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:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
2
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
3
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
4
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
5
 (HPO:0100022) Abnormality of movement Very frequent [Orphanet] 129 / 7739
6
 (HPO:0001288) Gait disturbance Frequent [Orphanet] 318 / 7739
7
 (HPO:0001315) Reduced tendon reflexes Very frequent [Orphanet] 160 / 7739
8
 (HPO:0002967) Cubitus valgus Frequent [Orphanet] 49 / 7739
9
 (HPO:0004209) Clinodactyly of the 5th finger Very frequent [Orphanet] 288 / 7739
10
 (HPO:0000954) Single transverse palmar crease Very frequent [Orphanet] 162 / 7739
11
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
12
 (HPO:0001025) Urticaria Very frequent [Orphanet] 73 / 7739
13
 (HPO:0000992) Cutaneous photosensitivity Very frequent [Orphanet] 75 / 7739
14
 (HPO:0000958) Dry skin Very frequent [Orphanet] 152 / 7739
15
 (HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
16
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: