UBE2A deficiency syndrome

X-linked intellectual disability type Nascimento

What is UBE2A deficiency syndrome?

UBE2A deficiency syndrome is a rare genetic disorder that mainly affects males.

Females, who have XX chromosome pairing, can be carriers passing on the mutation during pregnancy.

What causes UBE2A  deficiency syndrome?

UBE2A deficiency syndrome is primarily caused by mutations in the UBE2A gene, which is located the X chromosome.

This gene provides instructions for making a protein involved in the breakdown and recycling of other proteins in the body.

Mutations in the UBE2A gene can lead to a deficiency or dysfunction of this protein, disrupting normal cellular processes and resulting in the characteristic features of UBE2A deficiency syndrome.

What are the symptoms of UBE2A deficiency syndrome?

Symptoms of UBE2A deficiency syndrome vary, depending on the degree of mutation present, but can include:

  • Undeveloped facial features
  • Speech delay
  • Intellectual disability
  • Heart defects
  • Seizures
  • Weakened immune system
  • Kidney and urogenital malformation
  • Skin problems.

There is currently no cure for UBE2A, but treatment to manage individual symptoms can help improve a person’s quality of life.

Are you affected by UBE2A deficiency syndrome?

If you’re affected by UBE2A deficiency syndrome, The Brain Charity can support you.

We are the only charity in the UK to be here for every one of the more than 600 different neurological conditions in existence. Individually, many are rare, but combined, they affect 1 in 6 people.

We provide practical help on all aspects of living with UBE2A deficiency syndrome, emotional support such as counselling, phone befriending, group therapy and social activities to people with UBE2A deficiency syndrome and their family, friends and carers from all over the UK from our centre in Liverpool.

Looking to talk to someone?

Woman smiling, making eye contact and holding the hand of another woman to comfort her

Phone us

Contact The Brain Charity now

Our friendly Information & Advice Officers are here to help. We endeavour to respond to all enquiries within 10 working days.

0151 298 2999

Looking to talk to someone?

  • Please tell us which neurological condition you are affected by and what you need support with.

Caring for someone with UBE2A deficiency syndrome

We support carers, friends and family too

Are you a carer for or relative of someone with UBE2A deficiency syndrome? It’s just as important for you to look after your own physical and mental wellbeing too.

The Brain Charity provides free support for carers, friends and family of people with any form of neurological condition, including UBE2A deficiency syndrome, from anywhere in the UK.

We also run an additional carers advocacy service for all carers in Liverpool, regardless of which type of condition the person they care for has.

You don’t need to be a formal or registered carer

We can help you even if you don’t view yourself as a formal carer or claim Carer’s Allowance. Find out some of the ways we support carers below.

Other resources

The Brain Charity's Library

Our library has resources on UBE2A deficiency syndrome and a wide range of other disability related issues

Visit our library, or search the online catalogue here.

Read Jacob’s UBE2A deficiency syndrome story here.


Support groups

Facebook Parent Connection

Join Parent Connection for advice and support from those with real life experience of UBE2A deficiency syndrome.

Support groups at The Brain Charity

Are you interested in setting up a UBE2A deficiency syndrome support group, or do you already run one? Email activities@thebraincharity.org.uk to let us know.

Alternatively, you can check out our list of related support groups here..

Other charities

Genetic Alliance UK

Gene People