Jul 10, 2019

Shortly after birth, the participant was found to have gastroesophageal (acid) reflux and low muscle tone (hypotonia). His growth was normal except for a large head size (macrocephaly).

At 2 months old, it was noted that he had cataracts and he underwent surgery before 1 year old. He was also found to have global developmental delay, fine motor delays, and communication delays. He started having seizures just before age 6.

The participant has an older sister with a similar medical history. In early infancy, she was noticed to have low muscle tone (hypotonia), global developmental delay, and a larger head size (macrocephaly). She also has communication delays and seizures.

Shared symptoms:

• Global developmental delay
• Expressive and receptive language delay
• Intellectual disability
• Autism
• Seizures
• Large head size (macrocephaly)
• Low muscle tone (generalized hypotonia)
• Increased reflexes (generalized hyperreflexia)
• Single crease on palm of hand (single transverse palmar creases)
• Webbed 2^nd and 3^rd toes (2-3 toe syndactyly)
• Bent 5^th toe (clinodactyly of the 5^th toe)

Brother only:

• Cataracts
• Close-set eyes (hypotelorism)
• Short fingers and toes (brachydactyly)
• Abnormal brain activity (multifocal epileptiform discharges, EEG with generalized slow activity)
• Aggressive behavior

Sister only:

• Upslanting eyes (upslanted palpebral fissures)
• Difficulty walking (gait disturbance, spastic gait)
• Movement abnormalities (cogwheel rigidity)
• Abnormal MRI findings (hyperintensity of cerebral white matter)
• Mood swings
• Irritability

• Occupational, physical, and speech therapy

Brother:

• Metabolic condition

Sister:

• Angelman syndrome
• Fragile X syndrome
• Krabbe disease
• Microdeletion/duplication syndrome
• Prader-Willi syndrome