MENTAL RETARDATION, X-LINKED 92

General Information (adopted from Orphanet):

Synonyms, Signs: MRX92
Number of Symptoms 6
OrphanetNr:
OMIM Id: 300851
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:0008734) Decreased testicular size 2/8 [HPO:probinson] 16385466 IBIS 105 / 7739
2
 (HPO:0000581) Blepharophimosis 2/8 [HPO:probinson] 16385466 IBIS 197 / 7739
3
 (HPO:0011003) Severe Myopia 2/8 [HPO:probinson] 16385466 IBIS 31 / 7739
4
 (HPO:0001249) Intellectual disability 16385466 IBIS 1089 / 7739
5
 (HPO:0004322) Short stature 3/8 [HPO:probinson] 16385466 IBIS 1232 / 7739
6
 (HPO:0001417) X-linked inheritance 173 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Lugtenberg et al. (2006) studied a family in which 6 males in 3 generations had moderate to severe nonsyndromic mental retardation in an X-linked pattern of inheritance (XLMR). The 17-year-old proband had an IQ of 45. His mother ...
Molecular genetics OMIM In a family in which 6 males in 3 generations had moderate to severe nonsyndromic mental retardation in a pattern consistent with X-linked recessive inheritance, Lugtenberg et al. (2006) identified a 352G-T transversion in exon 6 of ZNF674 ...