| Disease Browser
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Parent Node:
 epilepsy (MONDO:0005027) |
Parent Node:
inherited tremor disorder (MONDO:0017663) |
Parent Node:
monogenic disease (MONDO:0000275) |
Parent Node:
motor stereotypies (MONDO:0017656) |
..Starting node
.. monogenic disease with epilepsy ()
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Child Nodes:
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| ........ARX-related epileptic encephalopathy () |
| ........atypical Rett syndrome () |
........autosomal recessive ataxia due to ubiquinone deficiency ()  L: 00443; |
| ........autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome () |
| ........autosomal recessive cutis laxa type 2A () |
| ........Borjeson-Forssman-Lehmann syndrome () |
| ........branched-chain keto acid dehydrogenase kinase deficiency () |
| ........CDKL5 disorder () |
| ........cerebrotendinous xanthomatosis () |
| ........channelopathy with epilepsy () |
| ........creatine transporter deficiency () |
| ........early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome () |
| ........familial infantile myoclonic epilepsy () |
| ........focal epilepsy-intellectual disability-cerebro-cerebellar malformation () |
| ........FOXG1 disorder () |
| ........fragile X syndrome () |
| ........global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome () |
| ........incontinentia pigmenti () |
| ........infantile Refsum disease () |
| ........infantile-onset mesial temporal lobe epilepsy with severe cognitive regression () |
| ........intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies () |
| ........lethal neonatal spasticity-epileptic encephalopathy syndrome () |
| ........leukocyte adhesion deficiency type II () |
| ........MEHMO syndrome () |
| ........Menkes disease () |
| ........Mowat-Wilson syndrome () |
| ........neonatal adrenoleukodystrophy () |
| ........neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination () |
| ........neurofibromatosis type 1 () |
| ........neuronal ceroid lipofuscinosis 8 northern epilepsy variant () |
| ........Niemann-Pick disease type A () |
| ........Niemann-Pick disease type C () |
| ........phenylketonuria () |
| ........Pitt-Hopkins syndrome () |
| ........Pitt-Hopkins-like syndrome () |
| ........polyhydramnios, megalencephaly, and symptomatic epilepsy () |
| ........pyruvate dehydrogenase deficiency () |
| ........Rett syndrome () |
| ........rhizomelic chondrodysplasia punctata type 1 () |
| ........salt and pepper syndrome () |
| ........severe neonatal-onset encephalopathy with microcephaly () |
| ........spastic paraplegia-severe developmental delay-epilepsy syndrome () |
| ........syndromic X-linked intellectual disability Claes-Jensen type () |
| ........thiamine-responsive encephalopathy () |
| ........tuberous sclerosis 1 () |
| ........tuberous sclerosis 2 () |
| ........X-linked adrenoleukodystrophy () |
| ........X-linked epilepsy-learning disabilities-behavior disorders syndrome () |
| ........X-linked intellectual disability-epilepsy syndrome () |
| ........Zellweger syndrome () |
Sister Nodes: |
..monogenic disease with epilepsy ()
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..Williams syndrome ()
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MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
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