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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandAtaxia (D001259)
..Starting node
..expandEpisodic Ataxia, Type 4 (C564698)

       Child Nodes:



 Sister Nodes: 
..expandAbetalipoproteinemia neuropathy (C540309)
..expandArts syndrome (C535388)
..expandAtaxia and Polyneuropathy, Adult-Onset (C564020)
..expandAtaxia with Fasciculations (C566246)
..expandAtaxia with Myoclonic Epilepsy and Presenile Dementia (C565933)
..expandAtaxia with vitamin E deficiency (C535393)
..expandAtaxia, Deafness, and Cardiomyopathy (C565932)
..expandATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT (OMIM:608984)
..expandAtaxia, Sensory, Autosomal Dominant (C563818)
..expandAtaxia, Spastic, with Congenital Miosis (C566247)
..expandAtaxia-Microcephaly-Cataract Syndrome (C563086)
..expandAtonic-Astatic Syndrome of Foerster (C565926)
..expandBangstad syndrome (C537902)
..expandBehr syndrome (C537669)
..expandBhaskar Jagannathan syndrome (C535437)
..expandCANOMAD syndrome (C537980)
..expandCarnitine Acetyltransferase Deficiency (C563249)
..expandCataract ataxia deafness (C538283)
..expandCataracts, ataxia, short stature, and mental retardation (C535345)
..expandCerebellar Ataxia (D002524) Child70
..expandCerebral Palsy, Ataxic, Autosomal Recessive (C562856)
..expandCerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
..expandCOACH syndrome (C536430)
..expandCoenzyme Q10 Deficiency (C564403)
..expandCOENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
..expandDeafness hyperuricemia neurologic ataxia (C535995)
..expandDiaminopentanuria (C565630)
..expandEpisodic Ataxia (C580065)
..expandEpisodic ataxia with nystagmus (C535506)
..expandEpisodic Ataxia, Type 1 (C563278)
..expandEpisodic Ataxia, Type 3 (C564697)
..expandEpisodic Ataxia, Type 4 (C564698)
..expandEpisodic Ataxia, Type 7 (C567459)
..expandErythrokeratodermia with ataxia (C535738)
..expandFragile X Tremor Ataxia Syndrome (C564105)
..expandGait Ataxia (D020234)
..expandHypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response (C537159)
..expandJoubert Syndrome 7 (C566916)
..expandLeukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism (C567313)
..expandMental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
..expandMuscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus (C562774)
..expandMyokymia 1 (C567174)
..expandParoxysmal Tonic Upgaze, Benign Childhood, With Ataxia (C566817)
..expandPartington X-linked mental retardation syndrome (C536300)
..expandPeripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain (C564894)
..expandPolyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract (C567203)
..expandPosterior column ataxia with retinitis pigmentosa (C536343)
..expandReardon Wilson Cavanagh syndrome (C535295)
..expandRichards-Rundle syndrome (C535674)
..expandSPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE (OMIM:613672)
..expandSpastic Paraplegia, Ataxia, And Mental Retardation (C564378)
..expandSpondyloepimetaphyseal dysplasia, Genevieve type (C535785)
..expandTapetoretinal Degeneration with Ataxia (C564788)
..expandTreft Sanborn Carey syndrome (C536544)
..expandTremor of Intention, Ataxia, and Lipofuscinosis (C566038)
..expandTryptophanuria With Dwarfism (C562658)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:3926
Name:Episodic Ataxia, Type 4
Definition:
Alternative IDs:
ParentIDs:MESH:D001259
TreeNumbers:C10.597.350.090/C564698 |C23.888.592.350.090/C564698
Synonyms:Ataxia, Periodic Vestibulocerebellar |Periodic Vestibulocerebellar Ataxia
Slim Mappings:Nervous system disease|Signs and symptoms
Reference: MedGen: C564698
MeSH: C564698
OMIM: 606552;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000617Abnormality of ocular smooth pursuit
3 HP:0000651Diplopia
4 HP:0002131Episodic ataxia
5 HP:0025312Esophoria
6 HP:0000640Gaze-evoked nystagmus
7 HP:0002018Nausea
8 HP:0001257Spasticity
9 HP:0000360Tinnitus
10 HP:0002321Vertigo
Disease Causing ClinVar Variants