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Participant 176

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Female, age 4, with seizure-like episodes, laryngeal cleft, difficulty swallowing (dysphagia), events of low blood sugar (recurrent hypoglycemia), and an abnormal brain MRI caused by a change in the MBD5 gene.

Date of Report

Dec 03, 2020


The participant was born prematurely at 33 weeks after she was diagnosed with IUGR at 27 weeks. She had a gap between her larynx and esophagus (laryngeal cleft) which was later repaired. During infancy, she experienced episodes of retching and choking, which lead to low blood oxygen levels and occasionally to loss of consciousness. The choking episodes resolved, but were replaced by sudden loss of consciousness episodes. One of the episodes was paired with metabolic abnormalities. Follow-up EEGs showed some abnormalities but no clear epileptic activity. The participant also experienced multiple febrile seizures. Although the participant has motor delays, she does not have intellectual or cognitive delays.

The participant has a history of difficulty swallowing (dysphagia) and she refuses to eat by mouth. She is fed continuously through a G-tube. In the past she experienced low blood sugar (hypoglycemia) if fasted for more than 3 hours and now her blood sugars are dropping even on continuous feeding. The participant has some facial differences including small head size, shortened skull (brachycephaly), long eyelashes, straight eyebrows, deep-set eyes, upslanting eyes (upslanting palpebral fissures), a rounded nose (bulbous nose), and thin lips. The participant receives speech therapy for pronunciation and occupational therapy for feeding.

Symptoms / Signs
  • Seizure-like episodes
  • Recurrent low blood sugar (recurrent hypoglycemia)
  • Sleep disturbance
  • Decreased body weight for age
  • Abnormality of the cerebral white matter
  • Gastrostomy tube feeding since infancy
  • Difficulty swallowing (dysphagia/esophageal food impaction)
  • Severe food aversion
  • Severe acid reflux (gastroesophageal reflux)
  • Pronunciation problems
  • Small head size (microcephaly)
  • Skull abnormalities (brachycephaly)
  • Horizontal eyebrow
  • Upslanting eyes (upslanted palpebral fissure)
  • Deeply set eye
  • Nearsightedness (myopia)
  • Long eyelashes
  • Rounded nose (bulbous nose)
  • Thin lip (thin vermilion border)
  • Decreased tooth enamel (hypoplasia of dental enamel)
  • Neck twisted to one side (torticollis)
  • Gap between larynx and esophagus (laryngeal cleft)
  • Small indentation in the lower back (sacral dimple)
  • Bruising susceptibility
Current Treatments
  • Keppra
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Congenital disorder of glycosylation
  • MBD5 related disorder
  • Metabolic disorder
  • Microdeletion/duplication disorder
  • Mitochondrial disorder
  • Russell-Silver syndrome
Other Photographs
Genetic Variants of Interest

In 2022, clinicians and researchers identified the following heterozygous genetic change to be causing the participant’s symptoms:

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change
Autosomal dominant
chr2:g.148814558_ 149113696del
c.-925+35305_ -557+13791del

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


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