developmental delay and seizures with or without movement abnormalities

Summary
Definition
A syndromic intellectual disability characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component that has_material_basis_in heterozygous mutation in the DHDDS gene on chromosome 1p36.
Super Class
syndromic intellectual disability
Disease Ontology
DOID:0080473
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
79947 DHDDS dehydrodolichyl diphosphate synthase subunit
The Human Phenotype Ontology
Displaying entries 51 - 58 of 58 in total
HPO ID HPO Term
HP:0003828 Variable expressivity
HP:0200134 Epileptic encephalopathy
HP:0002067 Bradykinesia
HP:0000006 Autosomal dominant inheritance
HP:0002069 Bilateral tonic-clonic seizure
HP:0001332 Dystonia
HP:0011150 Myoclonic absence seizure
HP:0002353 EEG abnormality
Displaying all 5 entries
Gene ID Gene Symbol Description
1759 DNM1 dynamin 1
523 ATP6V1A ATPase H+ transporting V1 subunit A
781 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1
79947 DHDDS dehydrodolichyl diphosphate synthase subunit
8867 SYNJ1 synaptojanin 1

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.1.0

Last updated: December 9, 2024