Developmental Delay/Intellectual Disability

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All HNRNPH2-RNDD individuals have developmental delay/intellectual disability to date. This ranges from borderline to severe. 

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About one third of individuals have developmental regression or plateau.

Motor​

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Two thirds of individuals with HNRNPH2-RNDD have motor delay. Many individuals are nonambulatory while some have significant delays.

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Movement abnormalities such as a tremor, cerebral palsy, dystonia and ataxia have also been reported.

Structural Brain Anomalies ​

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About 30% individuals with HNRNPH2-RNDD have structural brain anomalies. These are quite variable. The following have been reported:

• Heterotopia

• Atrophy

• Abnormal corpus callosum

• Delayed myelination

• Cerebellar vermis hypoplasia 

Muscles

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Almost 80% of individuals with HNRNPH2-RNDD have hypotonia (low muscle tone).​​

Hand and Feet Differences 

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About 30% of individuals with HNRNPH2-RNDD have hand and/or feet differences. Reported differences include:

• nail differences

• syndactyly

• tapered or long fingers

• thumb hypoplasia

• sandal gap

• hammertoe

• overlapping toes

• clinodactyly

Physical Differences

Skin conditions, such as ezcema, have been observed in some individuals with HNRNPH2-RNDD

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Heart anomalies have been observed in almost 30% of individuals with HNRNPH2-RNDD, including atrial septal defects, mitral valve anomalies, and aortic root dilation.

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Most individuals with HNRNPH2-RNDD have facial differences, although these can be variable. About 30% have different palpebral fissures (including almond shaped eyes). A similar amount have abnormal philtrums and/or lips.

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About a third of individuals with HNRNPH2-RNDD have digestive issues such as dysphagia or constipation.

Speech​

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Over 80% of HNRNPH2-RNDD individuals have speech delay or problems. Many individuals are nonverbal while some are delayed. Dyspraxia of speech (apraxia) has also been reported.

Behavioral Differences​

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Over 70% of individuals with HNRNPH2-RNDD have behavioral differences. These include autism spectrum disorder (ASD), ADHD, aggression (including self-inflicted), anxiety, stereotypical hand movements, and hyperacusis. Some individuals present similarly to Rett syndrome.

Seizures

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Over half of individuals with HNRNPH2-RNDD have seizures/epilepsy. These may present during childhood. Tonic clonic, absence, and febrile seizures have been observed, as well as EEG abnormalities.

Skeletal Differences

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About 40% of individuals with HNRNPH2-RNDD have skeletal differences. Reported differences include:

• hip anomalies

• coxa valga

• thorax anomalies

• pectus carinatum

• scoliosis

• microcephaly 

Eye and Vision Anomalies​

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Over half of individuals with HNRNPH2-RNDD have eye and/or vision anomalies. These include:

• myopia (near-sightedness)

• optic nerve anomalies

• blindess

• astigmatism

• strabismus

• cortical visual impairment (CVI)

Growth​

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Two thirds of individuals with HNRNPH2-RNDD have growth delay resulting in short stature and/or low weight. Several individuals have been dependent on g-tubes for feeding. Growth hormone has been given to some individuals.