FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 15
OrphanetNr:
OMIM Id: 615911
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:0000508) Ptosis rare [HPO:skoehler] 459 / 7739
2
 (HPO:0000407) Sensorineural hearing impairment rare [HPO:skoehler] 524 / 7739
3
 (HPO:0001300) Parkinsonism rare [HPO:skoehler] 75 / 7739
4
 (HPO:0003487) Babinski sign 179 / 7739
5
 (HPO:0000727) Frontal lobe dementia 6 / 7739
6
 (HPO:0001251) Ataxia 413 / 7739
7
 (HPO:0001265) Hyporeflexia 208 / 7739
8
 (HPO:0001284) Areflexia 198 / 7739
9
 (HPO:0002145) Frontotemporal dementia 14 / 7739
10
 (HPO:0002015) Dysphagia 301 / 7739
11
 (HPO:0007354) Amyotrophic lateral sclerosis 25 / 7739
12
 (HPO:0001260) Dysarthria 329 / 7739
13
 (HPO:0001283) Bulbar palsy 31 / 7739
14
 (HPO:0003701) Proximal muscle weakness rare [HPO:skoehler] 105 / 7739
15
 (HPO:0002120) Cerebral cortical atrophy rare [HPO:skoehler] 187 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: