Intellectual deficit, X-linked, Turner type

General Information (adopted from Orphanet):

Synonyms, Signs: MENTAL RETARDATION AND MACROCEPHALY SYNDROME
MRXST
Number of Symptoms 7
OrphanetNr: 85328
OMIM Id: 300706
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked dominant
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000053) Macroorchidism rare [HPO:skoehler] 18 / 7739
2
(HPO:0000256) Macrocephaly rare [HPO:skoehler] 298 / 7739
3
(HPO:0001249) Intellectual disability obligate [HPO:skoehler] 1089 / 7739
4
(HPO:0001377) Limited elbow extension 38 / 7739
5
(HPO:0001182) Tapered finger 93 / 7739
6
(HPO:0001360) Holoprosencephaly rare [HPO:skoehler] 29 / 7739
7
(HPO:0001417) X-linked inheritance 173 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Turner et al. (1994) reported a large 5-generation family in which several males had moderate to profound mental retardation consistent with X-linked inheritance. Several carrier females had mild mental retardation. Affected hemizygous males and heterozygous females had macrocephaly. ...
Molecular genetics OMIM In affected individuals of the family reported by Turner et al. (1994), Froyen et al. (2008) identified a mutation in the HUWE1 gene (300697.0001). Affected individuals in 2 additional families were also found to have mutations in the ...