"Building the Road to a Cure"

Signs & Symptoms of HNRNPH2 Genetic Variations

HNRNPH2 Symptoms

 

 

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