On this page, you will find information about a UDN participant. We are trying to find others with the same or similar condition. (Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.)
Male, age 8 with Floating Harbor syndrome
|Date of Report||December 22, 2016|
During the pregnancy with the patient, the patient’s mother had to use Levoxyl for Hashimoto’s thyroiditis. When the patient was born, the umbilical cord was wrapped around his neck and the placenta could not be delivered. He proceeded to spend 7 days in the NICU for feeding issues.
The patient has continued to have feeding issues and suffers from acid reflux, feeding aversions, vomiting, and constipation. His bone age is also delayed by about 3 years and he started growth hormone at age 7. He also has chronic ear infections and sleep apnea.
Developmentally, the patient has some delays. He has an individualized education program (IEP) and receives vision, speech, feeding, physical and occupational therapy.
|Previously Considered Diagnoses||
|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|
GeneCards: GC16P030700 NCBI Gene: 10847 OMIM: 611421 UniProtKB/Swiss-Prot: Q6ZRS2
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