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Participant 135


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Female, age 14 with severe intellectual disability, language delay (receptive and expressive language delay), and mild dysmorphic features

Date of Report

Jul 08, 2019

Description

The participant was late to achieve early milestones and said her first words at 2.5 years of age. She was identified to have severe intellectual disability and language delay, with receptive language better than expressive language. The participant currently has 10-20 words and has difficulty speaking (speech apraxia). In addition, she has slight dysmorphic features that include a short distance between the nose and upper lip (short philtrum), abnormal eyebrows (thick eyebrow, synophrys), widely spaced teeth (diastema), and inverted nipples. She also experiences sleep disturbance, abnormalities of fingers and toes, generalized joint laxity, anxiety, and obesity.

The participant loves music, singing, dancing, and swimming. She is very emotionally and socially aware and has a great sense of humor.

Symptoms / Signs
  • Severe intellectual disability
  • Overactive reflexes (brisk reflexes)
  • Intention tremor on hand extension
  • Sleep disturbance
  • Difficulty speaking (speech apraxia)
  • Language delay (expressive and receptive language delay)
  • Abnormality of brain electrical activity (EEG with focal epileptiform discharges)
  • Anxiety
  • Obesity
  • Abnormal hairline (low anterior and posterior hairline)
  • Premature graying of hair
  • Round face
  • Eye abnormalities (astigmatism, deeply set eye, esotropia, anisometropia)
  • Long eyelashes
  • Abnormal eyebrows (thick eyebrow, synophrys)
  • Short distance between nose and upper lip (short philtrum)
  • Bulbous nose
  • Short nose
  • Abnormality of the nasal alae (broad alar base)
  • Short neck
  • High palate
  • Deep groves on the tongue (furrowed tongue)
  • Abnormal tongue movements (tongue fasciculations)
  • Widely spaced teeth (diastema)
  • Delayed eruption of teeth (maxillary canines and lateral incisors)
  • Abnormality of fingers and toes (prominent fingertip pads, tapered finger, bilateral hallux valgus, bilateral clinodacyly of 4th toe, bilateral clinodactyly of the 5th toe, bilateral short 4th metacarpal, bilateral great toe)
  • Inverted nipples
  • Generalized joint laxity
  • Pelvic girdle muscle weakness
  • Enlarged liver (hepatomegaly)
  • Intermenstrual bleeding (metrorrhagia)
  • Accelerated skeletal maturation
  • Frequent temper tantrums
  • Impulsivity
  • High levels of triglycerides in the blood (hypertriglyceridemia)
  • Abnormal brain electrical studies (abnormal EEG with absence of seizure activity)
Current Treatments
  • Calcium/Vitamin D supplements
  • Lamictal – mood stabilizer
  • Speech and occupational therapy
  • Zoloft – anxiety
Prior Treatments
  • Music therapy
  • Physical therapy
Considered treatments
Previously Considered Diagnoses
  • Angelman syndrome
  • Metabolic disorder (Sanfilippo syndrome or other mucopolysaccharidosis condition)
  • Microdeletion/duplication condition
  • Rett syndrome
  • Smith-Magenis syndrome
Other Photographs
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
Autosomal dominant
Chr16:14307435
NM_014048
c.310C>G
p.R104G
Contact

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