Donate
background participants

Participant 126


On this page, you will find information about a UDN participant.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here. While these participant pages are helpful to understand our participants’ stories, they do not begin to describe their diagnostic odysseys. A special thank you goes out to our participants and their families for sharing their experiences.

 

Male, age 4, with global developmental delay thought to be caused by a genetic change in the FBXO11 gene

Date of Report

May 01, 2019

Description

The participant had reflux and some difficulty feeding after birth. Around 4 months old, his parents noticed that he was having difficulty meeting some of his developmental milestones. He had poor visual tracking, vocalization, and socialization. He has made slow but consistent progress since then and is now able to crawl, hold objects, pull up to stand, and clap. He is currently nonverbal but is able to communicate with some signs.

At 3 years old, the participant was diagnosed with autism spectrum disorder. He currently receives speech, occupational, physical, and applied behavior analysis therapy.

Symptoms / Signs
  • Global developmental delay
  • Absent speech
  • Low muscle tone (generalized hypotonia)
  • Short stature
  • Obesity
  • Small head circumference
  • Blocked tear ducts (nasolacrimal duct obstruction)
  • Far-sighted (hypermetropia)
  • Cross-eyed (esotropia)
  • Deep-set eyes
  • Long eyelashes
  • Recurrent ear infections (chronic otitis media)
  • Low-set & small ears
  • Small mouth
  • Small hands & feet
  • Sandal gap
  • Stereotypic movements
  • Chronic constipation
  • Sleep disturbance
  • Drooling
  • Deep-set toenails on big toes
Current Treatments
  • Applied behavior analysis, occupational, physical, and speech therapy – developmental delay
  • Glasses – hypermetropia
Prior Treatments
  • Ranitidine – reflux
Considered treatments
Previously Considered Diagnoses
  • Angelman syndrome
  • Bardet-Biedl syndrome
  • Congenital disorder of glycosylation
  • Fragile X syndrome
  • Microdeletion/duplication disorder
  • Prader-Willi syndrome
Other Photographs
Genetic Variants of Interest

Clinicians and researchers have identified the following genetic change to be causing the participant’s symptoms:

Gene
Inheritance Pattern
Position (hg19)
Transcript
DNA Change
Protein Change
FBXO11
Autosomal dominant
chr2:g.48035356_48035357del
NM_001190274.1
c.2685_2686delGT
p.Ser896Ter
Contact

If this participant sounds like you or someone you know, please contact us!

Disclaimer

The information provided here is based on individual patient experiences. This information is not meant to substitute for advice of a qualified health care provider. Please do not use this information to diagnose or develop a treatment plan for a health problem or disease without consulting a qualified health care provider.

Any mention of products or services is not meant as a recommendation of the products or services. Please discuss any options with a qualified health care provider.

Developments in medical research may impact the information that appears here. No assurance can be given that the information in this site will include the most recent findings or developments.

The use of any information provided on this site is solely at your own risk.

Top