X-linked intellectual disability due to GRIA3 anomalies

General Information (adopted from Orphanet):

Synonyms, Signs: MRXS29
MENTAL RETARDATION, X-LINKED 94
MENTAL RETARDATION, X-LINKED, SYNDROMIC 29
MRX94
MRXSW
Number of Symptoms 14
OrphanetNr: 364028
OMIM Id: 300699
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000256) Macrocephaly 2/8 [HPO:probinson] 17989220 IBIS 298 / 7739
2
 (HPO:0000248) Brachycephaly 222 / 7739
3
 (HPO:0000336) Prominent supraorbital ridges 45 / 7739
4
 (HPO:0000490) Deeply set eye 131 / 7739
5
 (HPO:0001265) Hyporeflexia 2/8 [HPO:probinson] 17989220 IBIS 208 / 7739
6
 (HPO:0001249) Intellectual disability 17989220 IBIS 1089 / 7739
7
 (HPO:0001250) Seizures 2/8 [HPO:probinson] 17989220 IBIS 1245 / 7739
8
 (HPO:0000718) Aggressive behavior 109 / 7739
9
 (HPO:0001336) Myoclonus 2/8 [HPO:probinson] 17989220 IBIS 115 / 7739
10
 (HPO:0000717) Autism 2/8 [HPO:probinson] 17989220 IBIS 108 / 7739
11
 (HPO:0001533) Slender build 6/8 [HPO:probinson] 17989220 IBIS 11 / 7739
12
 (HPO:0004322) Short stature 1232 / 7739
13
 (HPO:0002460) Distal muscle weakness 2/8 [HPO:probinson] 17989220 IBIS 122 / 7739
14
 (HPO:0001419) X-linked recessive inheritance 189 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Wu et al. (2007) identified 3 families in which X-linked mental retardation clearly segregated with mutations in the GRIA3 gene. The probands were identified from a group of 400 unrelated males with MRX who were specifically screened for ...
Molecular genetics OMIM Wu et al. (2007) identified 3 families in which X-linked mental retardation clearly segregated with mutations in the GRIA3 gene (305915.0001-305915.0003). In vitro functional expression studies showed that the mutant proteins interfered with proper kinetics of the glutamate ...