MENTAL RETARDATION, AUTOSOMAL DOMINANT 15

General Information (adopted from Orphanet):

Synonyms, Signs: MRD15
Number of Symptoms 11
OrphanetNr:
OMIM Id: 614608
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:0000527) Long eyelashes 46 / 7739
2
(HPO:0000574) Thick eyebrow 96 / 7739
3
(HPO:0000696) Delayed eruption of permanent teeth 12 / 7739
4
(HPO:0000252) Microcephaly 2/3 [HPO:probinson] 832 / 7739
5
(HPO:0001250) Seizures 2/4 [HPO:probinson] 1245 / 7739
6
(HPO:0001249) Intellectual disability 1089 / 7739
7
(HPO:0011968) Feeding difficulties 240 / 7739
8
(HPO:0001007) Hirsutism 3/4 [HPO:probinson] 91 / 7739
9
(HPO:0008070) Sparse hair 94 / 7739
10
(HPO:0001321) Cerebellar hypoplasia 2/3 [HPO:probinson] 114 / 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) identified SMARCB1 mutations in 4 individuals with a multiple congenital anomaly/mental retardation syndrome classified by them as Coffin-Siris syndrome (135900). All had developmental delay and hypotonia; 2 of 3 examined had microcephaly, 2 of ...
Molecular genetics OMIM In patients with a syndromic form of mental retardation (MRD15), Tsurusaki et al. (2012) identified a missense mutation in the SMARCB1 gene in 1 patient (601607.0013) and the same single-codon deletion (601607.0012) in 3 patients. Germline heterozygous truncating ...