HYPERREFLEXIA

General Information (adopted from Orphanet):

Synonyms, Signs: HRX
Number of Symptoms 8
OrphanetNr:
OMIM Id: 145290
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly Occasional [HPO:probinson] 832 / 7739
2
 (HPO:0007703) Abnormality of retinal pigmentation 21 / 7739
3
 (HPO:0007703) Abnormality of retinal pigmentation 21 / 7739
4
 (HPO:0011448) Ankle clonus 31 / 7739
5
 (HPO:0001347) Hyperreflexia 363 / 7739
6
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
7
 (OMIM) Negative Babinski 2 / 7739
8
 (OMIM) Average or low normal intelligence 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: