Tubulinopathy

Also known as

  • A neuronal migration disorder

A disorder of the structure of the brain resulting from a genetic malfunction in which the protein, Tubulin, is not released at the correct time in a developing brain. As a result in very early stages of brain development, complex malformations occur as cells are sent to the wrong place.

Condition details

It is characterised by very complicated and numerous brain malformations. Each person may have different misshaped or malformed parts to their brain and so the effects and the extent of their disabilities will vary.

I would like to edit or add detail to this database entry

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

  • Can 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

Baby
Lay terms Clinical terms
  • Flat or very wiggly brain scan Missing parts of brain
  • polymicrogyria and lissencephaly Agenesis

Affected genes identified to date

  • TUBB2B
  • TUBA1A

Inheritance patterns

Are carriers affected?

How many are affected?

Very few

Support groups and organisations

No groups found

Known experts

No experts found

I would like to edit or add detail to this database entry

Please let us know more about you

In order to allow you to edit this form, please fill in the fields below and click submit to proceed to to the editing page.

used only if we have questions about your entry.

Share this page

Welcome to the GDUK network

If this is the first time you have searched for information on a particular condition, details you find here may be distressing.

» If you would rather read our Newly Diagnosed section for parents and carers first click here