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:
expandFacies (D019066)
Parent Node:
expandSpinocerebellar Ataxias (D020754)
..Starting node
..expandSpinocerebellar Ataxia with Dysmorphism (C564802)

       Child Nodes:



 Sister Nodes: 
..expandAnemia, sideroblastic spinocerebellar ataxia (C536358)
..expandAtaxia Telangiectasia (D001260) Child6
..expandChorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism (C565850)
..expandGemignani syndrome (C537678)
..expandMachado-Joseph Disease (D017827) Child1
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
..expandSpastic Ataxia (C564815)
..expandSpastic ataxia Charlevoix-Saguenay type (C536787)
..expandSpinocerebellar Ataxia 10 (C566874)
..expandSpinocerebellar Ataxia 11 (C565772)
..expandSpinocerebellar Ataxia 12 (C565790)
..expandSpinocerebellar Ataxia 15 (C564685)
..expandSpinocerebellar Ataxia 17 (C564616)
..expandSpinocerebellar ataxia 20 (C537199)
..expandSpinocerebellar ataxia 25 (C537202)
..expandSpinocerebellar ataxia 26 (C537203)
..expandSpinocerebellar ataxia 30 (C575214)
..expandSpinocerebellar Ataxia 31 (C566146)
..expandSpinocerebellar Ataxia And Plaque-Like Deposits (C566671)
..expandSpinocerebellar Ataxia with Dysmorphism (C564802)
..expandSpinocerebellar Ataxia with Epilepsy (C564395)
..expandSpinocerebellar Ataxia With Rigidity And Peripheral Neuropathy (C566669)
..expandSpinocerebellar Ataxia, Autosomal Recessive 7 (C563753)
..expandSpinocerebellar Ataxia, Autosomal Recessive 8 (C565188)
..expandSpinocerebellar Ataxia, Autosomal Recessive 9 (C567436)
..expandSpinocerebellar Ataxia, X-Linked 1 (C563134)
..expandSpinocerebellar Ataxia, X-Linked 5 (C567478)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:10524
Name:Spinocerebellar Ataxia with Dysmorphism
Definition:
Alternative IDs:
ParentIDs:MESH:D019066|MESH:D020754
TreeNumbers:C10.228.140.252.190.530/C564802 |C10.228.140.252.700.700/C564802 |C10.228.854.787.875/C564802 |C10.574.500.825.700/C564802 |C10.597.350.090.500.530/C564802 |C16.320.400.780.875/C564802 |C23.550.291.812/C564802
Synonyms:
Slim Mappings:Genetic disease (inborn)|Nervous system disease|Pathology (process)
Reference: MedGen: C564802
MeSH: C564802
OMIM: 271270;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001760Abnormal foot morphology
3 HP:0000463Anteverted nares
4 HP:0001251Ataxia
5 HP:0003487Babinski sign
6 HP:0000337Broad forehead
7 HP:0001272Cerebellar atrophy
8 HP:0000280Coarse facial features
9 HP:0002208Coarse hair
10 HP:0002714Downturned corners of mouth
11 HP:0001260Dysarthria
12 HP:0001290Generalized hypotonia
13 HP:0001263Global developmental delay
14 HP:0001265Hyporeflexia
15 HP:0001252Hypotonia
16 HP:0000508Ptosis
17 HP:0002650Scoliosis
18 HP:0003196Short nose
19 HP:0000179Thick lower lip vermilion
Disease Causing ClinVar Variants