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Browse result for X-linked intellectual disability
※ introduction X-linked intellectual disability refers to medical disorders associated with X-linked recessive inheritance that result in intellectual disability.
As with most X-linked disorders, males are more heavily affected than females. Females with one affected X chromosome and one normal X chromosome tend to have milder symptoms.
Unlike many other types of intellectual disability, the genetics of these conditions are relatively well understood. It has been estimated there are ~200 genes involved in this syndrome; of these ~100 have been identified. Many of these genes are found on the short 'p' arm of the chromosome, and duplications at Xp11.2 are associated with the syndromic form of the condition.
X-linked intellectual disability accounts for ~16% of all cases of intellectual disability in males.
Reference
Wiki: X-linked intellectual disability
Reference
Wiki: X-linked intellectual disability
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD14408 | Q9ULL8 | 57477 | SHROOM4 | Protein Shroom4 | Homo sapiens |
