VAN BOGAERT-HOZAY SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 14
OrphanetNr:
OMIM Id: 277150
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:0005280) Depressed nasal bridge 381 / 7739
2
 (HPO:0000692) Misalignment of teeth 18 / 7739
3
 (HPO:0000347) Micrognathia 426 / 7739
4
 (HPO:0000483) Astigmatism 67 / 7739
5
 (HPO:0000545) Myopia 286 / 7739
6
 (HPO:0000377) Abnormality of the pinna 111 / 7739
7
 (HPO:0001256) Intellectual disability, mild 141 / 7739
8
 (HPO:0005033) Distal ulnar hypoplasia 4 / 7739
9
 (HPO:0009771) Osteolytic defects of the phalanges of the hand 17 / 7739
10
 (HPO:0001595) Abnormality of the hair 89 / 7739
11
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
 (OMIM) Thickened cheeks 1 / 7739
13
 (OMIM) Absent beard 2 / 7739
14
 (OMIM) Small fingers and toes 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: