MODIFIER, X-LINKED, FOR NEUROFUNCTIONAL DEFECTS

General Information (adopted from Orphanet):

Synonyms, Signs: TOURETTE SYNDROME, MODIFIER OF
Number of Symptoms 4
OrphanetNr:
OMIM Id: 309840
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:0000707) Abnormality of the nervous system 61 / 7739
2
(OMIM) Tourette syndrome modifier 1 / 7739
3
(OMIM) Speech, learning and behavior modifier 1 / 7739
4
(HPO:0001417) X-linked inheritance 173 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Several disorders affecting speech, learning and behavior have a 3:1 or greater male:female ratio. Tourette syndrome (137580), primarily caused by an autosomal gene, is such a condition. Comings and Comings (1985) analyzed family pedigrees of 430 consecutive cases ...
Molecular genetics OMIM Lawson-Yuen et al. (2008) identified a hemizygous 757-kb deletion in the NLGN4 gene (300427.0003) in a boy with autism and mental retardation (300495), who also had a motor tic. The patient's 9-year-old brother, who carried diagnoses of Tourette ...