MENTAL RETARDATION, X-LINKED 46

General Information (adopted from Orphanet):

Synonyms, Signs: MRX46
Number of Symptoms 5
OrphanetNr:
OMIM Id: 300436
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: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
2
(HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
3
(HPO:0000407) Sensorineural hearing impairment rare [HPO:probinson] 524 / 7739
4
(HPO:0001249) Intellectual disability 1089 / 7739
5
(HPO:0001419) X-linked recessive inheritance 189 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Yntema et al. (1998) reported a large Dutch family in which 12 males in 3 generations were affected with nonspecific X-linked mental retardation. Of 9 examined patients, 6 showed moderate mental retardation, and 1 each showed mild, severe, ...
Molecular genetics OMIM Among 119 unrelated male patients with nonspecific mental retardation, Kutsche et al. (2000) identified a mutation in the ARHGEF6 gene (300267.0001) in a patient from the large family with X-linked mental retardation described by Yntema et al. (1998). ...