HOOFT DISEASE

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 10
OrphanetNr:
OMIM Id: 236300
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000547) Tapetoretinal degeneration 11 / 7739
2
 (HPO:0001249) Intellectual disability 1089 / 7739
3
 (HPO:0001507) Growth abnormality 36 / 7739
4
 (HPO:0001820) Leukonychia 18 / 7739
5
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
6
 (OMIM) Low serum lipids 1 / 7739
7
 (OMIM) Opaque leukonychia 1 / 7739
8
 (OMIM) Erythematosquamous eruption 1 / 7739
9
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
10
 (OMIM) Retarded physical development 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: