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
External Links
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 1 - 10 of 58 in total
HPO ID HPO Term
HP:0000252 Microcephaly
HP:0000348 High forehead
HP:0000494 Downslanted palpebral fissures
HP:0000504 Abnormality of vision
HP:0000508 Ptosis
HP:0000546 Retinal degeneration
HP:0000639 Nystagmus
HP:0000648 Optic atrophy
HP:0000668 Hypodontia
HP:0000708 Atypical behavior
Displaying all 4 entries
Gene ID Gene Symbol Description
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

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: August 19, 2024