developmental and epileptic encephalopathy 89

Summary
Synonym
  • DEE89
  • early infantile epileptic encephalopathy 89
Definition
A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of seizures, profound global developmental delay with impaired intellectual development, absent speech, axial hypotonia, and spastic quadriparesis that has_material_basis_in homozygous or compound heterozygous mutation in the GAD1 gene on chromosome 2q31.1.
Super Class
autosomal recessive disease developmental and epileptic encephalopathy
External Links
Disease Ontology
DOID:0112223
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2571 GAD1 glutamate decarboxylase 1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 88 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 5 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
2571 GAD1 glutamate decarboxylase 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