Xia-Gibbs syndrome

Also known as

  • AHDC1 mutation disorder

mutations on the AHDC1 gene on chromosome one causing intellectual disability, sleep disorders, with similar mildly dysmorphic features

Condition details

AHDC1 is gene coding a long protein. Mutations on the gene have been found to cause delayed myelination, developmental delay, mental retardation, hypotonia, sleep apnea, esotropia ( squint) and other characteristics. see http://www.sciencedaily.com/releases/2014/05/140501123455.htm

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Photos of affected individuals

Click images to enlarge.

  • No baby imageBaby
  • No toddler imageToddler
  • No child 4-10 imageChild 4-10
  • No child 10-18 imageChild 10-18
  • No adult imageAdult

Typical age range of first manifestation

  • Does not manifest in Baby
  • Does not manifest in Toddler
  • Does not manifest in Child 4-10
  • Does not manifest in Child 10-18
  • Does not manifest in Adult

Symptoms

Affected genes identified to date

  • AHDC1 . Mutations are in the 'AT-Hook binding DNA motif Containing' gene
  • AHDC1
  • which codes for a protein 1
  • 603 Amino Acids long
  • with two functional regions

Inheritance patterns

Is Autosomal dominant

believed to be mainly de novo

Are carriers affected?

not known as yet, possibly some inherited cases

How many are affected?

Extrapolating from the Baylor Whole Genome Laboratory suggests that there could be hundreds of affected individuals worldwide Estimated to occur in perhaps approximately 1 in 500,000. About 27 cases identified so far.

Support groups and organisations

Known experts

No experts found

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