Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

MalaCards integrated aliases for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2:

Name: Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 ⁵⁷ ⁷¹

Cerebellar Ataxia, Intellectual Disability, and Dysequilibrium Syndrome 2 ⁷³ ²⁸ ⁵

Camrq2 ⁵⁷ ⁷³

Cerebellar Ataxia and Mental Retardation with or Without Quadrupedal Locomotion 2 ⁵⁷

Ataxia, Cerebellar, Mental Retardation, and Dysequilibrium Syndrome, Type 2 ³⁸

Characteristics:

Inheritance:

Autosomal recessive ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
onset in infancy

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Mental diseases

See all MalaCards categories (disease lists)

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Summaries for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

UniProtKB/Swiss-Prot: ⁷³ An autosomal recessive, congenital cerebellar ataxia associated with cerebellar hypoplasia, intellectual disability, and inability to walk bipedally, resulting in quadrupedal locomotion as a functional adaptation. Additional findings include generalized brain atrophy and mild hypoplasia of the corpus callosum.

MalaCards based summary: Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2, is also known as cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2, and has symptoms including tremor, dysdiadochokinesis and cerebellar ataxia. An important gene associated with Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 is WDR81 (WD Repeat Domain 81). Affiliated tissues include brain, cerebellum and brain-cerebellum, and related phenotypes are dysarthria and tremor

OMIM®: ⁵⁷ Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011). For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (224050). (610185) (Updated 08-Dec-2022)

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Related Diseases for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

Diseases in the Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 family:

Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2	Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4

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Symptoms & Phenotypes for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

Human phenotypes related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2:

³⁰ (show all 26)

#	Description	HPO Source Accession
1	dysarthria ³⁰	HP:0001260
2	tremor ³⁰	HP:0001337
3	coarse facial features ³⁰	HP:0000280
4	global developmental delay ³⁰	HP:0001263
5	delayed speech and language development ³⁰	HP:0000750
6	short stature ³⁰	HP:0004322
7	intellectual disability, severe ³⁰	HP:0010864
8	strabismus ³⁰	HP:0000486
9	abnormality of the neck ³⁰	HP:0000464
10	dysmetria ³⁰	HP:0001310
11	dysdiadochokinesis ³⁰	HP:0002075
12	hyporeflexia ³⁰	HP:0001265
13	small hand ³⁰	HP:0200055
14	intellectual disability, progressive ³⁰	HP:0006887
15	cerebellar hypoplasia ³⁰	HP:0001321
16	short foot ³⁰	HP:0001773
17	cerebellar atrophy ³⁰	HP:0001272
18	short palm ³⁰	HP:0004279
19	hirsutism ³⁰	HP:0001007
20	hypoplasia of the corpus callosum ³⁰	HP:0002079
21	thoracic scoliosis ³⁰	HP:0002943
22	thoracic kyphosis ³⁰	HP:0002942
23	truncal ataxia ³⁰	HP:0002078
24	global brain atrophy ³⁰	HP:0002283
25	atrophy of the dentate nucleus ³⁰	HP:0007047
26	aplasia of the inferior half of the cerebellar vermis ³⁰	HP:0007063

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Neurologic Central Nervous System:
dysarthria
tremor
dysmetria
dysdiadochokinesis
hyporeflexia
more

Growth Height:
short stature

Skin Nails Hair Hair:
hirsutism

Skeletal Hands:
small hands

Head And Neck Head:
head is flexed forward

Head And Neck Face:
coarse facial features

Head And Neck Eyes:
strabismus

Skeletal Spine:
thoracic scoliosis
thoracic kyphosis
skull is flexed forward on the spine

Skeletal Feet:
small feet

Head And Neck Neck:
wide and short nape of the neck

Clinical features from OMIM®:

610185 (Updated 08-Dec-2022)

UMLS symptoms related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2:

tremor; dysdiadochokinesis; cerebellar ataxia

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Drugs & Therapeutics for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

Search Clinical Trials, NIH Clinical Center for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2

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Genetic Tests for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

Genetic tests related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2:

#	Genetic test	Affiliating Genes
1	Cerebellar Ataxia, Intellectual Disability, and Dysequilibrium Syndrome 2 ²⁸	WDR81

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Anatomical Context for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

Organs/tissues related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2:

MalaCards : Brain, Cerebellum

ODiseA: Brain, Brain-Cerebellum

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Publications for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

Articles related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2:

(show all 17)

#	Title	Authors	PMID	Year
1	Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family. ⁵⁷ ⁵	Komara M...Al-Gazali L	26437881	2016
2	Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred. ⁵⁷ ⁵	Gulsuner S...Ozcelik T	21885617	2011
3	Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p. ⁵⁷ ⁵	Turkmen S...Mundlos S	16371500	2006
4	WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells. ⁵	Cavallin M...Bahi-Buisson N	28969387	2017
5	Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. ⁵⁷	Alazami AM...Alkuraya FS	25558065	2015
6	Reply to Herz et al. and Humphrey et al.: Genetic heterogeneity of cerebellar hypoplasia with quadrupedal locomotion. ⁵⁷	Ozcelik T...Tan U	18544652	2008
7	Genes and quadrupedal locomotion in humans. ⁵⁷	Humphrey N...Turkmen S	18483196	2008
8	"Devolution" of bipedality. ⁵⁷	Herz J...Parboosingh JS	18487453	2008
9	Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans. ⁵⁷	Ozcelik T...Tan U	18326629	2008
10	A Brazilian family with quadrupedal gait, severe mental retardation, coarse facial characteristics, and hirsutism. ⁵⁷	Garcias Gde L...Roth Mda G	17613106	2007
11	A new syndrome with quadrupedal gait, primitive speech, and severe mental retardation as a live model for human evolution. ⁵⁷	Tan U	16484061	2006
12	WDR81 regulates adult hippocampal neurogenesis through endosomal SARA-TGFβ signaling. ⁶²	Wang M...Guo W	30531936	2021
13	The BEACH-containing protein WDR81 coordinates p62 and LC3C to promote aggrephagy. ⁶²	Liu X...Yang C	28404643	2017
14	Characterization of a novel zebrafish (Danio rerio) gene, wdr81, associated with cerebellar ataxia, mental retardation and dysequilibrium syndrome (CAMRQ). ⁶²	Doldur-Balli F...Adams MM	27390838	2015
15	WDR81 is necessary for purkinje and photoreceptor cell survival. ⁶²	Traka M...Popko B	23595742	2013
16	Neuro-ophthalmologic findings in humans with quadrupedal locomotion. ⁶²	Sarac O...Kansu T	22686558	2012
17	A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion. ⁶²	Ali BR...Al-Gazali L	22973972	2012

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Genes for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

Genes related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	WDR81	WD Repeat Domain 81	Protein Coding	1325	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵	16371500 21885617 26437881 (more) 28969387

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Variations for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

ClinVar genetic disease variations for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2:

⁵ (show all 39)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	WDR81	NM_001163809.2(WDR81):c.5335C>T (p.Arg1779Ter)	SNV	Pathogenic	984714	rs762607878	GRCh37: 17:1639342-1639342 GRCh38: 17:1736048-1736048
2	WDR81	NM_001163809.2(WDR81):c.3997C>T (p.Arg1333Ter)	SNV	Pathogenic	224836	rs138358708	GRCh37: 17:1634392-1634392 GRCh38: 17:1731098-1731098
3	WDR81	NM_001163809.2(WDR81):c.2567C>T (p.Pro856Leu)	SNV	Pathogenic	31611	rs587776906	GRCh37: 17:1630820-1630820 GRCh38: 17:1727526-1727526
4	WDR81	NM_001163809.2(WDR81):c.1358dup (p.Tyr453Ter)	DUP	Likely Pathogenic	1696176		GRCh37: 17:1629610-1629611 GRCh38: 17:1726316-1726317
5	WDR81	NM_001163809.2(WDR81):c.2051A>G (p.Gln684Arg)	SNV	Uncertain Significance	1031890	rs748793270	GRCh37: 17:1630304-1630304 GRCh38: 17:1727010-1727010
6	WDR81	NM_001163809.2(WDR81):c.3085G>A (p.Ala1029Thr)	SNV	Uncertain Significance	547902	rs766140596	GRCh37: 17:1631338-1631338 GRCh38: 17:1728044-1728044
7	WDR81	NM_001163809.2(WDR81):c.482C>T (p.Pro161Leu)	SNV	Uncertain Significance	982855	rs374149596	GRCh37: 17:1628735-1628735 GRCh38: 17:1725441-1725441
8	WDR81	NM_001163809.2(WDR81):c.1907C>A (p.Pro636Gln)	SNV	Uncertain Significance	982857	rs1203128651	GRCh37: 17:1630160-1630160 GRCh38: 17:1726866-1726866
9	WDR81	NM_001163809.2(WDR81):c.1045G>C (p.Val349Leu)	SNV	Uncertain Significance	596303	rs150798889	GRCh37: 17:1629298-1629298 GRCh38: 17:1726004-1726004
10	WDR81	NM_001163809.2(WDR81):c.2494G>A (p.Glu832Lys)	SNV	Uncertain Significance	1701671		GRCh37: 17:1630747-1630747 GRCh38: 17:1727453-1727453
11	WDR81	NM_001163809.2(WDR81):c.3532G>A (p.Ala1178Thr)	SNV	Uncertain Significance	235691	rs151330612	GRCh37: 17:1631785-1631785 GRCh38: 17:1728491-1728491
12	WDR81	NM_001163809.2(WDR81):c.1072A>G (p.Ser358Gly)	SNV	Uncertain Significance	1029177	rs780969097	GRCh37: 17:1629325-1629325 GRCh38: 17:1726031-1726031
13	WDR81	NM_001163809.2(WDR81):c.1157T>C (p.Val386Ala)	SNV	Uncertain Significance	1029178	rs1915232687	GRCh37: 17:1629410-1629410 GRCh38: 17:1726116-1726116
14	WDR81	NM_001163809.2(WDR81):c.1474A>C (p.Ile492Leu)	SNV	Uncertain Significance	1030235	rs992608564	GRCh37: 17:1629727-1629727 GRCh38: 17:1726433-1726433
15	WDR81	NM_001163809.2(WDR81):c.5027C>T (p.Pro1676Leu)	SNV	Uncertain Significance	1030237	rs746252411	GRCh37: 17:1637358-1637358 GRCh38: 17:1734064-1734064
16	WDR81	NM_001163809.2(WDR81):c.3115G>A (p.Ala1039Thr)	SNV	Uncertain Significance	377255	rs369748157	GRCh37: 17:1631368-1631368 GRCh38: 17:1728074-1728074
17	WDR81	NM_001163809.2(WDR81):c.3854C>T (p.Pro1285Leu)	SNV	Uncertain Significance	1031891	rs199995527	GRCh37: 17:1634127-1634127 GRCh38: 17:1730833-1730833
18	WDR81	NM_001163809.2(WDR81):c.5248G>C (p.Ala1750Pro)	SNV	Uncertain Significance	1031893	rs150784268	GRCh37: 17:1638934-1638934 GRCh38: 17:1735640-1735640
19	WDR81	NM_001163809.2(WDR81):c.5659G>A (p.Val1887Met)	SNV	Uncertain Significance	1031894	rs200284291	GRCh37: 17:1640812-1640812 GRCh38: 17:1737518-1737518
20	WDR81	NM_001163809.2(WDR81):c.826C>T (p.Arg276Cys)	SNV	Uncertain Significance	1031895	rs886540540	GRCh37: 17:1629079-1629079 GRCh38: 17:1725785-1725785
21	WDR81	NM_001163809.2(WDR81):c.1950C>G (p.Asp650Glu)	SNV	Uncertain Significance	1033757	rs1915315281	GRCh37: 17:1630203-1630203 GRCh38: 17:1726909-1726909
22	WDR81	NM_001163809.2(WDR81):c.4778T>C (p.Leu1593Pro)	SNV	Uncertain Significance	1679614		GRCh37: 17:1637109-1637109 GRCh38: 17:1733815-1733815
23	WDR81	NM_001163809.2(WDR81):c.5179+6C>T	SNV	Uncertain Significance	1679615		GRCh37: 17:1637516-1637516 GRCh38: 17:1734222-1734222
24	WDR81	NM_001163809.2(WDR81):c.5314C>T (p.Pro1772Ser)	SNV	Uncertain Significance	634455	rs144021458	GRCh37: 17:1639000-1639000 GRCh38: 17:1735706-1735706
25	WDR81	NM_001163809.2(WDR81):c.4315C>T (p.Arg1439Trp)	SNV	Likely Benign	808188	rs141491316	GRCh37: 17:1635776-1635776 GRCh38: 17:1732482-1732482
26	WDR81	NM_001163809.2(WDR81):c.2254C>T (p.Pro752Ser)	SNV	Likely Benign	708421	rs200781463	GRCh37: 17:1630507-1630507 GRCh38: 17:1727213-1727213
27	WDR81	NM_001163809.2(WDR81):c.2167G>A (p.Glu723Lys)	SNV	Likely Benign	977836		GRCh37: 17:1630420-1630420 GRCh38: 17:1727126-1727126
28	WDR81	NM_001163809.2(WDR81):c.4085T>C (p.Met1362Thr)	SNV	Likely Benign	977894		GRCh37: 17:1634480-1634480 GRCh38: 17:1731186-1731186
29	WDR81	NM_001163809.2(WDR81):c.4602C>T (p.Thr1534=)	SNV	Likely Benign	741172	rs140513521	GRCh37: 17:1636933-1636933 GRCh38: 17:1733639-1733639
30	WDR81	NM_001163809.2(WDR81):c.4971A>G (p.Leu1657=)	SNV	Benign	130741	rs3809872	GRCh37: 17:1637302-1637302 GRCh38: 17:1734008-1734008
31	WDR81	NM_001163809.2(WDR81):c.5127G>A (p.Pro1709=)	SNV	Benign	130742	rs8065251	GRCh37: 17:1637458-1637458 GRCh38: 17:1734164-1734164
32	WDR81	NM_001163809.2(WDR81):c.2739G>A (p.Leu913=)	SNV	Benign	130737	rs9912287	GRCh37: 17:1630992-1630992 GRCh38: 17:1727698-1727698
33	WDR81	NM_001163809.2(WDR81):c.4743A>G (p.Pro1581=)	SNV	Benign	130740	rs3809871	GRCh37: 17:1637074-1637074 GRCh38: 17:1733780-1733780
34	WDR81	NM_001163809.2(WDR81):c.5556C>T (p.Thr1852=)	SNV	Benign	130745	rs1045794	GRCh37: 17:1640709-1640709 GRCh38: 17:1737415-1737415
35	WDR81	NM_001163809.2(WDR81):c.5640C>T (p.Ser1880=)	SNV	Benign	130746	rs8077638	GRCh37: 17:1640793-1640793 GRCh38: 17:1737499-1737499
36	WDR81	NM_001163809.2(WDR81):c.5506-19C>G	SNV	Benign	1185334		GRCh37: 17:1640640-1640640 GRCh38: 17:1737346-1737346
37	WDR81	NM_001163809.2(WDR81):c.*56A>G	SNV	Benign	1185335		GRCh37: 17:1641035-1641035 GRCh38: 17:1737741-1737741
38	WDR81	NM_001163809.2(WDR81):c.626C>A (p.Pro209His)	SNV	Not Provided	732182	rs200343855	GRCh37: 17:1628879-1628879 GRCh38: 17:1725585-1725585
39	WDR81	NM_001163809.2(WDR81):c.5582C>T (p.Pro1861Leu)	SNV	Not Provided	684558	rs151078477	GRCh37: 17:1640735-1640735 GRCh38: 17:1737441-1737441

UniProtKB/Swiss-Prot genetic disease variations for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	WDR81	p.Pro856Leu	VAR_068220	rs587776906

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Expression for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

Search GEO for disease gene expression data for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2.

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Pathways for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

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GO Terms for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

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Sources for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

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⁷¹ UMLS

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⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

CAMRQ2 MCID: CRB136 MIFTS: 28	Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 (CAMRQ2) Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Publications Symptoms & Phenotypes Expand all tables

Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 (CAMRQ2)

Aliases & Classifications for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

MalaCards integrated aliases for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

Related Diseases for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

Diseases in the Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 family:

Symptoms & Phenotypes for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

Human phenotypes related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2:

Drugs & Therapeutics for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

Genetic Tests for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

Genetic tests related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2:

Anatomical Context for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

Organs/tissues related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2:

Publications for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

Articles related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2:

Genes for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

Genes related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 (1 elite genes):

Variations for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

ClinVar genetic disease variations for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2:

UniProtKB/Swiss-Prot genetic disease variations for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2:

Expression for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

Pathways for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

GO Terms for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

Sources for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...