MENTAL RETARDATION, AUTOSOMAL DOMINANT 4

General Information (adopted from Orphanet):

Synonyms, Signs: MRD4
Number of Symptoms 2
OrphanetNr:
OMIM Id: 612581
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 19012874 IBIS 1089 / 7739
2
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Bhalla et al. (2008) reported a 56-year-old white woman with severe mental retardation (IQ of 16). Facial dysmorphic features included alternating exotropia, flat midface, some downslanting of the lower eyelids, thin nasal bridge, rounded nasal tip, nasal septum ...
Molecular genetics OMIM In 5 of 647 unrelated patients with mental retardation, Bhalla et al. (2008) identified 3 different heterozygous mutations in the KIRREL3 gene (see, e.g., 607761.0001-607761.0003). Detailed clinical features were not given.