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:
expandSpinocerebellar Degenerations (D013132)
..Starting node
..expandSpinocerebellar ataxia, autosomal recessive 6 (C537312)

       Child Nodes:



 Sister Nodes: 
..expandCorneal cerebellar syndrome (C535472)
..expandFriedreich Ataxia (D005621) Child6
..expandGrowth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy (C564264)
..expandHereditary spinal ataxia (C531684)
..expandInfantile onset spinocerebellar ataxia (C535523) Child1
..expandMousa Al din Al Nassar syndrome (C536989)
..expandMyoclonic Cerebellar Dyssynergia (D002527) Child1
..expandOlivopontocerebellar Atrophies (D009849) Child15
..expandPosterior column ataxia (C536342)
..expandSensorimotor neuropathy with ataxia, autosomal dominant (C537197)
..expandSpinocerebellar ataxia 13 (C537195)
..expandSpinocerebellar ataxia 14 (C537196)
..expandSpinocerebellar ataxia 19 (C537198)
..expandSpinocerebellar ataxia 21 (C537200)
..expandSpinocerebellar ataxia 22 (C542540)
..expandSpinocerebellar ataxia 23 (C537201)
..expandSpinocerebellar ataxia 27 (C537204)
..expandSpinocerebellar ataxia 28 (C537205)
..expandSpinocerebellar Ataxia 29 (C537206)
..expandSpinocerebellar ataxia 8 (C537307)
..expandSpinocerebellar ataxia, autosomal recessive 1 (C537308)
..expandSpinocerebellar Ataxia, Autosomal Recessive 2 (C565865)
..expandSpinocerebellar ataxia, autosomal recessive 3 (C537309)
..expandSpinocerebellar ataxia, autosomal recessive 4 (C537310)
..expandSpinocerebellar ataxia, autosomal recessive 5 (C537311)
..expandSpinocerebellar ataxia, autosomal recessive 6 (C537312)
..expandSpinocerebellar ataxia, autosomal recessive, with axonal neuropathy (C537313)
..expandSpinocerebellar ataxia, X-linked, 2 (C537314)
..expandSpinocerebellar ataxia, X-linked, 4 (C537316)
..expandSpinocerebellar Ataxias (D020754) Child34
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:10518
Name:Spinocerebellar ataxia, autosomal recessive 6
Definition:
Alternative IDs:OMIM:608029
ParentIDs:MESH:D013132
TreeNumbers:C10.228.140.252.700/C537312 |C10.228.854.787/C537312 |C10.574.500.825/C537312 |C16.320.400.780/C537312
Synonyms:Cerebellar ataxia, infantile nonprogressive, autosomal recessive |Norwegian infantile onset ataxia |SCAR6
Slim Mappings:Genetic disease (inborn)|Nervous system disease
Reference: MedGen: C537312
MeSH: C537312
OMIM: 608029;

Genes: CLA3;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003577Congenital onset
3 HP:0001251Ataxia
4 HP:0001272Cerebellar atrophy
5 HP:0002312Clumsiness
6 HP:0000750Delayed speech and language development
7 HP:0001310Dysmetria
8 HP:0002066Gait ataxia
9 HP:0001290Generalized hypotonia
10 HP:0001347Hyperreflexia
11 HP:0001252Hypotonia
12 HP:0002080Intention tremor
13 HP:0001270Motor delay
14 HP:0003680Nonprogressive
15 HP:0001763Pes planus
16 HP:0004322Short stature
17 HP:0001257Spasticity
Disease Causing ClinVar Variants