background participants

Participant 126


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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
Transcript
DNA Change
Protein Change
Autosomal dominant
Chr2: 48035354
NM_001190274
c.2685_2686delGT
p.S896*
Contact

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

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