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.)
Female, age 2 with congenital disorder of glycosylation, type IIm
|Date of Report||November 18, 2016|
Shortly after birth, the patient was found to have pyloric stenosis, a condition in which muscles block food from entering the small intestine. She underwent surgery to correct this at 9 weeks. Currently she has reduced functioning of her stomach and intestines (reduced gastric and intestinal motility) and constipation. She has had trouble gaining weight.
At 3 months, the patient was diagnosed with infantile spasms, which have not been controlled with medication. A brain MRI showed a decrease of white matter and vermis in the brain (progressive diffuse atrophy of the hemispheric white matter and vermis). Her left leg is also bigger and longer than her right leg (hemi-hypertrophy of left leg).
Developmentally, the patient has stopped gaining milestones, but has not regressed. She often has difficulty sleeping through the night.
|Previously Considered Diagnoses||
|Genetic Variants of Interest||Clinicians and researchers are investigating the following genetic change to see if it is causing the participant’s symptoms:|
|Gene||Inheritance Pattern||Position||Transcript||DNA Change||Protein Change|
Participant is 15.5% mosaic for this variant
GeneCards: GC0XM048903 NCBI Gene: 7355 OMIM: 314375 UniProtKB/Swiss-Prot: P78381
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