developmental and epileptic encephalopathy 88

Summary
Synonym
  • DEE88
  • early infantile epileptic encephalopathy 88
Definition
A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the MDH1 gene on chromosome 2p15.
Super Class
autosomal recessive disease developmental and epileptic encephalopathy
External Links
Disease Ontology
DOID:0112222
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
4190 MDH1 malate dehydrogenase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
17449 Mdh1 malate dehydrogenase 1, NAD (soluble)
The Human Phenotype Ontology
Displaying entries 31 - 40 of 60 in total
HPO ID HPO Term
HP:0002133 Status epilepticus
HP:0002317 Unsteady gait
HP:0002355 Difficulty walking
HP:0002376 Developmental regression
HP:0002421 Poor head control
HP:0002509 Limb hypertonia
HP:0002521 Hypsarrhythmia
HP:0004305 Involuntary movements
HP:0004322 Short stature
HP:0007018 Attention deficit hyperactivity disorder
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
4190 MDH1 malate dehydrogenase 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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