MENTAL RETARDATION, X-LINKED 19

General Information (adopted from Orphanet):

Synonyms, Signs: MRX19
Number of Symptoms 12
OrphanetNr:
OMIM Id: 300844
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000455) Broad nasal tip 67 / 7739
2
(HPO:0011220) Prominent forehead 137 / 7739
3
(HPO:0000678) Dental crowding 65 / 7739
4
(HPO:0000179) Thick lower lip vermilion 72 / 7739
5
(HPO:0001270) Motor delay 322 / 7739
6
(HPO:0001249) Intellectual disability 1089 / 7739
7
(HPO:0000750) Delayed speech and language development 197 / 7739
8
(HPO:0001833) Long foot 33 / 7739
9
(HPO:0002751) Kyphoscoliosis 131 / 7739
10
(HPO:0001518) Small for gestational age rare [HPO:skoehler] 107 / 7739
11
(HPO:0001252) Muscular hypotonia 990 / 7739
12
(HPO:0001417) X-linked inheritance 173 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) X-linked mental retardation-19 (MRX19) is a nonsyndromic form of mild to moderate mental retardation. Carrier females may be mildly affected. Mutation in the RPS6KA3 gene also causes Coffin-Lowry syndrome (CLS; 303600), a mental retardation syndrome with dysmorphic facial ...
Clinical Description OMIM Choo et al. (1984) reported a family with nonsyndromic X-linked mental retardation that did not show linkage to fragile X syndrome (300624) or to the F9 (300746) gene on chromosome Xq27.

Donnelly et al. (1994) reported ...

Genotype-Phenotype Correlations OMIM Field et al. (2006) noted that the mutations in their report and the mutation (300075.0011) reported by Manouvrier-Hanu et al. (1999) in a family with mild Coffin-Lowry syndrome were small in-frame deletions or missense mutations affecting the serine/threonine ...
Molecular genetics OMIM In affected members of the MRX19 family reported by Choo et al. (1984) and Donnelly et al. (1994), Merienne et al. (1999) identified a mutation in the RPS6KA3 gene (R383W; 300075.0010). The R383W-mutant protein was notable in that ...