LICHTENSTEIN-KNORR SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 10
OrphanetNr:
OMIM Id: 616291
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:0000639) Nystagmus rare [HPO:skoehler] 555 / 7739
2
 (HPO:0001310) Dysmetria 76 / 7739
3
 (HPO:0002345) Action tremor 11 / 7739
4
 (HPO:0002075) Dysdiadochokinesis 40 / 7739
5
 (HPO:0002066) Gait ataxia 327 / 7739
6
 (HPO:0001260) Dysarthria 329 / 7739
7
 (HPO:0002070) Limb ataxia 41 / 7739
8
 (HPO:0001270) Motor delay 322 / 7739
9
 (HPO:0004322) Short stature rare [HPO:skoehler] 1232 / 7739
10
 (HPO:0001272) Cerebellar atrophy rare [HPO:skoehler] 197 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: