Signs & Symptoms of HNRNPH2 Genetic Variations

Signs & Symptoms in Patients with HNRNPH2 Genetic Variations

Phenotypes that occur in MOST patients (approximately 50% to 100%):

Neurological Issues -

• Global developmental delay/ intellectual disability (100% of individuals have this!)
• Non-verbal or severe language impairment
• Speech/oral motor apraxia
• Seizures
• Abnormal muscle tone (low tone called hypotonia and/or high tone called hypertonia, muscle rigidity or spasticity)
• Mobility issues (inability to walk, delayed walking, abnormal walking, balance issues)
• Incoordination (sometimes called apraxia or dyspraxia)
• Sensory Processing Disorder
• Other Sensory problems (such as decreased pain response, hyper-touch, hyper-temperature, )

Vision –

• Strabismus

Gastrointestinal Issues -

• Chronic constipation
• Significantly underweight / Failure to thrive
• Poor appetite

Other –

• Happy demeanor
• Specific facial features (eye shape, etc.)

Phenotypes that occur in SOME patients (approximately 25% to 50%):

Neurological -

• Autism Spectrum Disorder
• ADHD
• Atypical gait (unusual walking pattern)
• Seizures

Vision -

• Nearsighted

Gastrointestinal Issues -

• Gastrointestinal reflux (GERD)
• Difficulty swallowing

Orthopedic Issues -

• Scoliosis, lordosis, kyphosis, torticollis
• Hip/pelvis problems (hip dysplasia)

Other -

• Fatigue, muscle weakness
• Dental/tooth deformity
• Anxiety
• Bipolar disorder

Phenotypes that occur in FEW patients (less than 25%):

Neurological -

• Severe sleep disturbances
• Hyper-pain
• Microcephaly (acquired or congenital)
• Hypo-temperature
• Tremors

Vision -

• Depth perception
• Cortical Visual Impairment (CVI)

Gastrointestinal Issues -

• Severe abdominal pain
• Pica (eating non-food materials)   

Orthopedic Issues -

• Heart murmur
• Joint laxity
• Joint pain
• Stiffness

 Other -

• Obsessive Compulsive Disorder
• Fluctuation of skills
• Hand flapping or biting