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Participant 114


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Male, age 10 with severe global developmental delay, seizures, and aggressive behavior

Date of Report

Mar 11, 2019

Description

The participant was born prematurely at 27 weeks and experienced many complications early in life. He currently has seizures, low muscle tone (generalized hypotonia, facial hypotonia), and severe global developmental delay. These symptoms are not believed to be caused by his premature birth. The participant also has distinct facial features, a small head size (microcephaly), and outbursts of aggressive behavior and abnormal temper tantrums.

Symptoms / Signs
  • Severe global developmental delay
  • Low muscle tone (generalized hypotonia, facial hypotonia)
  • Seizures
  • Muscle weakness
  • Decreased muscle mass
  • Feeding difficulties
  • Small head size (microcephaly)
  • Abnormal facial shape
  • Wide mouth
  • Open mouth
  • Everted lower lip vermilion
  • Coarse facial features
  • Protruding jaw (mandibular prognathia)
  • Long region between nose and upper lip (long philtrum)
  • Prominent nose
  • Excessive facial hair (facial hirsutism)
  • Broad eyebrow
  • Abnormality of the neck
  • Curved 5th finger (clinodactyly of the 5th finger)
  • High arched left foot (pes cavus)
  • Broad big toe (broad hallux)
  • Pink/blue appearance to skin when in cold conditions (cutis marmorata)
  • Behavioral abnormality
  • Aggressive behavior
  • Abnormal temper tantrums
Current Treatments
  • Zonizamide – seizures
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Metabolic condition
  • Microdeletion/duplication disorder
  • Mitochondrial disorder
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms:

Gene
Inheritance Pattern
Position
Transcript
DNA Change
Protein Change
Autosomal dominant
Chr4:187628088
NM_005245
c.2894G>A
p.S965N
Autosomal recessive
Chr4:126372145, Chr4:126371302
NM_024582
c.9974G>A, c.9131C>T
p.R3325H, p.A3044V
Contact

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