MENTAL RETARDATION, AUTOSOMAL DOMINANT 12

General Information (adopted from Orphanet):

Synonyms, Signs: MRD12
Number of Symptoms 8
OrphanetNr:
OMIM Id: 614562
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:0000219) Thin upper lip vermilion 112 / 7739
2
(HPO:0000414) Bulbous nose 63 / 7739
3
(HPO:0000494) Downslanted palpebral fissures 328 / 7739
4
(HPO:0000368) Low-set, posteriorly rotated ears 38 / 7739
5
(HPO:0001249) Intellectual disability 1089 / 7739
6
(HPO:0004322) Short stature 1232 / 7739
7
(HPO:0001252) Muscular hypotonia 990 / 7739
8
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hoyer et al. (2012) reported 8 unrelated patients with mental retardation. All patients presented with moderate to severe psychomotor retardation, and most showed evidence of muscular hypotonia. In many patients, expressive speech was reported to be more severely ...
Molecular genetics OMIM Hoyer et al. (2012) performed Sanger sequencing of candidate genes, including ARID1B, in a region on chromosome 6q25 that was deleted in a patient with mental retardation (see 612863). A total of 8 mutations in the ARID1B gene ...