Signs & Symptoms of HNRNP-RNDDs
The HNRNP-RNDDs are distinct disorders with overlapping clinical traits. As they have similar mechanisms of disease, it is likely that there are shared therapeutic strategies to uncover.
Issac Soul, who has HNRNPQ-NDD or SYNCRIP, multitasking at 2024 conference
What Makes HNRNP Disorders Unique
Understanding the rarity and scope of these conditions
Known Disorders
At least 10 HNRNP-RNDDs have been identified, and that number continues to grow as research advances.
Documented Cases
Only about 700 cases exist worldwide, making these conditions extremely rare.
Collective Impact
Individually extremely rare, but together we overcome our extremely rare status to advance research.
What is a Rare Disease?
A disease diagnosed in less than 200,000 individuals in the US, or less than 1 in 2,000 individuals globally.
What is an Extremely Rare Disease?
A disease diagnosed in less than 1 in 50,000 individuals. Each HNRNP-RNDD falls into this category.
Common Signs & Symptoms
Scroll to explore how common each symptom is across all studied HNRNP disorders.
of patients experience this symptom
Data from Gillentine et al., 2023 and ongoing studies
Individual HNRNP-RNDDs
Each disorder has its own unique features. Click to learn more about specific conditions.
HNRNPC-RNDD
Gene: HNRNPC
HNRNPC-RNDD was first described in 2023. While other members of the HNRNP gene family were already linked to neurodevelo...
Learn More →PTBP1-RNDD
Gene: PTBP1
PTBP-related neurodevelopmental disorder (also called PTBP1-RNDD) is a rare genetic condition caused by changes in the P...
Learn More →HNRNPG-RNDD
Gene: RBMX
Two disorders have been described related to changes in the RBMX gene: Shashi-type intellectual disability and Gustavson...
Learn More →HNRNPH1-RNDD
Gene: HNRNPH1
HNRNPH1-RNDD was first described in 2018. While at first considered a type of Bain type intellectual disability (due to ...
Learn More →HNRNPH2-RNDD
Gene: HNRNPH2
HNRNPH2-RNDD was first described in 2016. Variants in HNRNPH2 on the X chromosome are associated with a neurodevelopment...
Learn More →Au-Kline Syndrome
Gene: HNRNPK
HNRNPK-related neurodevelopmental disorder, also called Au-Kline syndrome (AKS), is a rare genetic condition that affect...
Learn More →HNRNPR-RNDD
Gene: HNRNPR
HNRNPR-RNDD is a rare genetic condition that affects how a child grows, learns, and develops. Most individuals with this...
Learn More →HNRNPU-RNDD
Gene: HNRNPU
HNRNPU-related neurodevelopmental disorder is a rare genetic condition that affects how a child grows, learns, and devel...
Learn More →SYNCRIP-RNDD
Gene: SYNCRIP
SYNCRIP-related neurodevelopmental disorder (also called HNRNPQ-RNDD) is a rare genetic condition caused by changes in t...
Learn More →What's Next?
Explore more resources to understand HNRNP disorders
What Causes HNRNP-RNDDs
Learn about the genetics behind these disorders and how they're inherited.
Learn moreScience & Research
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