MENTAL RETARDATION, AUTOSOMAL DOMINANT 2

General Information (adopted from Orphanet):

Synonyms, Signs: MRD2
Number of Symptoms 3
OrphanetNr:
OMIM Id: 614113
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:0001249) Intellectual disability 1089 / 7739
2
(HPO:0001263) Global developmental delay 853 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Griggs et al. (2008) reported 2 unrelated patients with mental retardation and developmental disability. One patient was a 55-year-old man with profound mental retardation, no speech, mild dysmorphic features, a history of seizures, and stooped posture. The second ...
Molecular genetics OMIM Both patients with mental retardation and developmental disability reported by Griggs et al. (2008) had a heterozygous disruption of the DOCK8 gene. The male had a genomic deletion of approximately 230 kb in subtelomeric 9p. The female carried ...