DHX30-related complex neurodevelopmental disorder

[Jciesielka1]

Preferred gene-related syndrome label
DHX30-related complex neurodevelopmental disorder

Synonyms
Neurodevelopmental disorder with variable motor and speech impairment (MIM 617804)

Parent term (use OLS, or your favorite ontology browser)
Complex neurodevelopmental disorder (MONDO:0100038)

Definition
This is a complex neurodevelopmental disorder in which the cause of disease is variation in DHX30. Individuals with variants in DHX30 have been found to have variable presentations including intellectual development, delayed or absent speech development, delayed motor development, hypotonia, feeding difficulties, and ataxic gait or the inability to walk. Other phenotypic features commonly reported include sleep disorders, autistic features, seizures, and joint hypermobility (PMID: 29100085 and 3402070).

**Definition source (Please give PubMed ID, if applicable, in format PMID:#######)
PMID: 29100085 and 3402070

Children terms (if applicable) Should any existing terms be re-classified as children underneath this new proposed term?
No child terms that we are aware of.

Your nano-attribution (ORCID) or URL for a working group
ClinGen Intellectual Disability and Autism Expert Panel (https://clinicalgenome.org/affiliation/40006/)

@ErinRiggs