MENTAL RETARDATION, AUTOSOMAL DOMINANT 14

General Information (adopted from Orphanet):

Synonyms, Signs: MRD14
Number of Symptoms 12
OrphanetNr:
OMIM Id: 614607
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 3/3 [HPO:probinson] 46 / 7739
2
(HPO:0002209) Sparse scalp hair 3/3 [HPO:probinson] 59 / 7739
3
(HPO:0000154) Wide mouth 3/3 [HPO:probinson] 137 / 7739
4
(HPO:0000280) Coarse facial features 3/3 [HPO:probinson] 189 / 7739
5
(HPO:0000179) Thick lower lip vermilion 3/3 [HPO:probinson] 72 / 7739
6
(HPO:0001249) Intellectual disability 1089 / 7739
7
(HPO:0011968) Feeding difficulties 3/3 [HPO:probinson] 240 / 7739
8
(HPO:0200104) Absent fifth fingernail 3/3 [HPO:probinson] 1 / 7739
9
(HPO:0200105) Absent fifth toenail 3/3 [HPO:probinson] 1 / 7739
10
(HPO:0002719) Recurrent infections 3/3 [HPO:probinson] 107 / 7739
11
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
12
(HPO:0001273) Abnormality of the corpus callosum 3/3 [HPO:probinson] 20 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Tsurusaki et al. (2012) identified ARID1A mutations in 3 individuals with a multiple congenital anomaly/mental retardation syndrome (MRD14) classified by them as Coffin-Siris syndrome (135900). All 3 individuals had developmental delay, abnormal corpus callosum, absent/hypoplastic fifth finger/toenails, sparse ...
Molecular genetics OMIM The 3 mutations in the ARID1A gene identified by Tsurusaki et al. (2012) in individuals with MRD14 comprised a frameshift (603024.0001) and 2 premature termination mutations (603024.0002, 603024.0003). The subject with the frameshift mutation presented with hepatoblastoma. Haploinsufficiency ...