MENTAL RETARDATION, X-LINKED 9

General Information (adopted from Orphanet):

Synonyms, Signs: MENTAL RETARDATION, X-LINKED 44
MRX44
MRX9
Number of Symptoms 8
OrphanetNr:
OMIM Id: 309549
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:0005280) Depressed nasal bridge rare [HPO:skoehler] 381 / 7739
2
 (HPO:0002194) Delayed gross motor development 37 / 7739
3
 (HPO:0001256) Intellectual disability, mild 141 / 7739
4
 (HPO:0000717) Autism rare [HPO:skoehler] 108 / 7739
5
 (HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
6
 (HPO:0000750) Delayed speech and language development 197 / 7739
7
 (HPO:0009832) Abnormality of the distal phalanx of finger rare [HPO:skoehler] 1 / 7739
8
 (HPO:0001417) X-linked inheritance 173 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Nonspecific X-linked mental retardation (MRX) includes several distinct entities with mental retardation but without additional distinguishing features.

Hamel et al. (1999) described a 4-generation family segregating X-linked mental retardation. Affected members had nonprogressive mental retardation noted ...
Molecular genetics OMIM The MRX44 family of Hamel et al. (1999) was shown by Freude et al. (2004) to carry a mutation in the FTSJ1 gene (300499.0001), resulting in deletion of exon 9.

In the Belgian MRX9 family reported ...