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
Disease Ontology
DOID:0112223
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2571 GAD1 glutamate decarboxylase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
14415 Gad1 glutamate decarboxylase 1
The Human Phenotype Ontology
Displaying entries 21 - 30 of 88 in total
HPO ID HPO Term
HP:0001273 Abnormal corpus callosum morphology
HP:0002317 Unsteady gait
HP:0001336 Myoclonus
HP:0001251 Ataxia
HP:0001558 Decreased fetal movement
HP:0001268 Mental deterioration
HP:0002133 Status epilepticus
HP:0001315 Reduced tendon reflexes
HP:0002355 Difficulty walking
HP:0001290 Generalized hypotonia
Displaying all 6 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
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: December 9, 2024