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Participant 164


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Female, age 25 with severe intellectual disability, seizures, and absent speech caused by a change in the CDK19 gene

Date of Report

Jun 29, 2020

Description

The participant experienced early developmental delays. She crawled and sat independently at 9 months and had a vocabulary of 3 words by 12-15 months. However, she lost her language skills after her seizures began at 14-15 months. Her generalized tonic-colonic seizures occur about once a week in addition to more frequent, smaller seizures. Currently, the participant is non-verbal but is able to gesture and make sounds.

In addition to developmental delays and intellectual disability, the participant has several other clinical and behavioral features. Some of her other clinical features include painful loose joints (joint laxity) and scoliosis. Her behavioral features include placing her hands in her mouth, occasionally holding her hands clasped, occasionally grinding her teeth, and severe pica.

Symptoms / Signs
  • Severe global developmental delay
  • Intellectual disability
  • Absent speech
  • Seizures (bilateral tonic-clonic)
  • Sparse and thin eyebrow
  • Close-set eyes (hypotelorism)
  • Forward-turned ears (anteriorly rotated ears)
  • Prominent nose
  • Midface retrusion
  • Wide mouth
  • Protruding jaw (mandibular prognathia)
  • Soft, doughy skin
  • Multiple dark pigmented moles or birthmarks (numerous congenital melanocytic nevi)
  • Mild increased curvature of the spine (scoliosis)
  • High-arched foot (pes cavus)
  • Loose joints (generalized joint laxity)
  • Webbed fingers (cutaneous finger syndactyly)
  • Low muscle tone (generalized hypotonia)
Current Treatments
Prior Treatments
  • Armour Thyroid
  • Clonazepam
  • Divalproex (by mouth in the morning and at bedtime)
  • Levothyroxine
  • Polyethylene glycol
Considered treatments
Previously Considered Diagnoses
  • Angelman syndrome
  • CDKL5 deficiency disorder
  • FOXG1 syndrome
  • Microdeletion/duplication syndrome
  • Rett syndrome
Other Photographs
Genetic Variants of Interest

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

Gene
Inheritance Pattern
Position
Transcript
DNA Change
Protein Change
de novo
Chr6: 110632090
NM_015076.4
c.586A>G
p.Thr196Ala
Contact

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