Kozlowski-Brown-Hardwick syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 11
OrphanetNr: 2352
OMIM Id:
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal recessive inheritance
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0010650) Hypoplasia of the premaxilla Very frequent [Orphanet] 39 / 7739
2
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
3
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
4
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
5
 (HPO:0000483) Astigmatism Very frequent [Orphanet] 67 / 7739
6
 (HPO:0000545) Myopia Very frequent [Orphanet] 286 / 7739
7
 (HPO:0000508) Ptosis Very frequent [Orphanet] 459 / 7739
8
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
9
 (HPO:0000921) Missing ribs Very frequent [Orphanet] 62 / 7739
10
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
11
 (HPO:0001334) Communicating hydrocephalus Very frequent [Orphanet] 32 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: