CHROMOSOME 8q12.1-q21.2 DELETION SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: BOR-DUANE HYDROCEPHALUS CONTIGUOUS GENE SYNDROME
Number of Symptoms 10
OrphanetNr:
OMIM Id: 600257
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant contiguous gene syndrome
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000478) Abnormality of the eye 126 / 7739
2
(HPO:0000598) Abnormality of the ear 98 / 7739
3
(HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
4
(HPO:0003011) Abnormality of the musculature 47 / 7739
5
(HPO:0000238) Hydrocephalus 278 / 7739
6
(OMIM) Trapezius muscle aplasia 1 / 7739
7
(OMIM) Branchiootorenal (BOR) syndrome 1 / 7739
8
(OMIM) Deletion of 8q12.2-q21.2 1 / 7739
9
(HPO:0001452) Autosomal dominant contiguous gene syndrome 4 / 7739
10
(MedDRA:10013799) Duane's syndrome 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Vincent et al. (1994) analyzed a de novo 8q12.2-q21.2 deletion with the identification of a proposed 'new' contiguous gene syndrome consisting of the branchiootorenal (BOR) syndrome (113650), Duane syndrome (126800), hydrocephalus (600256), and aplasia of the trapezius muscle. ...