Behavioral Characteristics
- Developmental delay/intellectual disability
- Autism spectrum disorder
- Speech/motor impairments (some patients being completely non-verbal)
- Behavioral Anomalies (aggressive behavior, temper tantrums, impulsivity, compulsivity, stubbornness, manipulative behavior)
- Skin Picking
- ADHD
- Hyperphagia
Physical Characteristics
- Epilepsy
- Abnormal brain MRI
- Neonatal hypotonia
- Dysmorphic facial features
- Feeding problems (including need for special feeding technique)
- Joint contractures
- Hypogonadism
- Eye anomalies (strabismus, myopia, nystagmus, esotropia),
- Short stature
- Difficulty gaining weight
- Gastrointestinal issues (reflux/GERD, chronic constipation, chronic diarrhea)
- Abnormal gait
- Sleep apnea/sleep disturbance
- Asthma
- Scoliosis or kyphosis
- Small hands/feet
- Excessive weight gain
- Decreased fetal movement
- Hip dysplasia
- Hearing difficulties