Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandDystonia (D004421)
Parent Node:
expandLeukoencephalopathies (D056784)
Parent Node:
expandPolyneuropathies (D011115)
..Starting node
..expandLeukoencephalopathy with Dystonia and Motor Neuropathy, SCPx-Deficient (C566654)

       Child Nodes:



 Sister Nodes: 
..expand46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy (C567773)
..expandAlcoholic Neuropathy (D020269)
..expandAplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy (C565945)
..expandAtaxia and Polyneuropathy, Adult-Onset (C564020)
..expandDeafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease (C565120)
..expandHereditary Sensory and Autonomic Neuropathies (D009477) Child12
..expandHereditary Sensory and Motor Neuropathy (D015417) Child164
..expandLaryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy (C565252)
..expandLEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY (OMIM:613724)
..expandLeukoencephalopathy with Dystonia and Motor Neuropathy, SCPx-Deficient (C566654)
..expandNeuropathy, Hereditary Sensory, Atypical (C564946)
..expandOptic atrophy polyneuropathy deafness (C537129)
..expandParaneoplastic Polyneuropathy (D020364)
..expandPeripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease (C563789)
..expandPOEMS Syndrome (D016878)
..expandPolyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract (C567203)
..expandPolyradiculoneuropathy (D011129) Child18
..expandRibose 5-Phosphate Isomerase Deficiency (C563212)
..expandSevere infantile axonal neuropathy (C537593)
..expandTangier Disease (D013631)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:6397
Name:Leukoencephalopathy with Dystonia and Motor Neuropathy, SCPx-Deficient
Definition:
Alternative IDs:
ParentIDs:MESH:D004421|MESH:D011115|MESH:D056784
TreeNumbers:C10.228.140.695/C566654 |C10.597.350.300/C566654 |C10.668.829.800/C566654 |C23.888.592.350.300/C566654
Synonyms:
Slim Mappings:Nervous system disease|Signs and symptoms
Reference: MedGen: C566654
MeSH: C566654
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants