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:
expandCerebellar Ataxia (D002524)
Parent Node:
expandDysphonia (D055154)
Parent Node:
expandPolyneuropathies (D011115)
Parent Node:
expandVocal Cord Paralysis (D014826)
..Starting node
..expandLaryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy (C565252)

       Child Nodes:



 Sister Nodes: 
..expandCHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE (OMIM:607706)
..expandLaryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy (C565252)
..expandLaryngeal Adductor Paralysis (C562861)
..expandNeuropathy, Distal Hereditary Motor, Type VIIA (C563562)
..expandTucker syndrome (C536923)
..expandVocal cord dysfunction familial (C536354)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:6207
Name:Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy
Definition:
Alternative IDs:
ParentIDs:MESH:D002524|MESH:D011115|MESH:D014826|MESH:D055154
TreeNumbers:C08.360.931/C565252 |C08.360.940.325/C565252 |C09.400.931/C565252 |C09.400.940.325/C565252 |C10.228.140.252.190/C565252 |C10.292.887.800/C565252 |C10.597.350.090.500/C565252 |C10.597.622.943/C565252 |C10.597.975.325/C565252 |C10.668.829.800/C565252 |C23.888.592.35
Synonyms:
Slim Mappings:Ear-nose-throat disease|Nervous system disease|Respiratory tract disease|Signs and symptoms
Reference: MedGen: C565252
MeSH: C565252
OMIM: 606183;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003581Adult onset
3 HP:0001272Cerebellar atrophy
4 HP:0003693Distal amyotrophy
5 HP:0001310Dysmetria
6 HP:0001618Dysphonia
7 HP:0002094Dyspnea
8 HP:0003445EMG: neuropathic changes
9 HP:0002066Gait ataxia
10 HP:0001609Hoarse voice
11 HP:0008003Jerky ocular pursuit movements
12 HP:0006511Laryngeal stridor
13 HP:0007289Limb fasciculations
14 HP:0000639Nystagmus
15 HP:0002073Progressive cerebellar ataxia
Disease Causing ClinVar Variants