MENTAL RETARDATION, AUTOSOMAL DOMINANT 16

General Information (adopted from Orphanet):

Synonyms, Signs: MRD16
Number of Symptoms 11
OrphanetNr:
OMIM Id: 614609
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:0001305) Dandy-Walker malformation 1/6 [HPO:probinson] 79 / 7739
2
(HPO:0000252) Microcephaly 4/5 [HPO:probinson] 832 / 7739
3
(HPO:0002209) Sparse scalp hair 3/6 [HPO:probinson] 59 / 7739
4
(HPO:0000574) Thick eyebrow 6/6 [HPO:probinson] 96 / 7739
5
(HPO:0000527) Long eyelashes 6/6 [HPO:probinson] 46 / 7739
6
(HPO:0000505) Visual impairment 5/6 [HPO:probinson] 297 / 7739
7
(HPO:0001250) Seizures 2/6 [HPO:probinson] 1245 / 7739
8
(HPO:0001249) Intellectual disability 1089 / 7739
9
(HPO:0001007) Hirsutism 6/6 [HPO:probinson] 91 / 7739
10
(HPO:0001252) Muscular hypotonia 4/6 [HPO:probinson] 990 / 7739
11
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Tsurusaki et al. (2012) described 6 individuals with a syndromic form of mental retardation classified as Coffin-Siris syndrome (CSS; 135900) who carried mutations in the SMARCA4 gene. All patients had developmental delay, 4 had hypotonia, and 4 of ...
Molecular genetics OMIM In 6 individuals with a syndromic but nonspecific form of mental retardation, Tsurusaki et al. (2012) identified an in-frame deletion (603254.0002) and 5 different missense mutations (603254.0003-603254.0007) in SMARCA4. In 5 cases the mutation was shown to have ...