Kleefstra Syndrome 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: KLF004 MIFTS: 30	Kleefstra Syndrome 1 Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Mental diseases
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Aliases & Classifications for Kleefstra Syndrome 1

MalaCards integrated aliases for Kleefstra Syndrome 1:

Name: Kleefstra Syndrome 1 ⁵⁷ ⁷⁵

Chromosome 9q34.3 Deletion Syndrome ⁵⁷ ⁷⁵

9q Subtelomeric Deletion Syndrome ⁵⁷ ⁵⁹

Kleefstra Syndrome ⁵⁹ ⁷³

9q- Syndrome ⁵⁷ ⁷⁵

Klefs1 ⁵⁷ ⁷⁵

Kleefstra Syndrome Due to 9q Subtelomeric Deletion ⁵⁹

Kleefstra Syndrome Due to 9q34 Microdeletion ⁵⁹

Chromosome 9q Subtelomeric Deletion Syndrome ⁷⁵

Kleefstra Syndrome Due to Monosomy 9q34 ⁵⁹

Kleefstra Syndrome Due to Del(9)(q34) ⁵⁹

9qstds ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

kleefstra syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: elderly;

kleefstra syndrome due to 9q34 microdeletion
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation in most cases
many cases have submicroscopic subtelomeric deletions of chromosome 9q leading to haploinsufficiency of ehmt1

HPO:

³²

kleefstra syndrome 1:
Inheritance autosomal dominant inheritance sporadic

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Other specified congenital malformation syndromes, not elsewhere classified

Orphanet: ⁵⁹

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 610253

Orphanet ⁵⁹ ORPHA261494 ORPHA96147

UMLS via Orphanet ⁷⁴ C0795833

ICD10 via Orphanet ³⁴ Q87.8

MedGen ⁴² C0795833

MeSH ⁴⁴ D006330 D008607 D019465

SNOMED-CT via HPO ⁶⁹ 263681008 396232000 204878001 more

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Summaries for Kleefstra Syndrome 1

OMIM : ⁵⁷ Submicroscopic subtelomeric deletions of chromosome 9q are associated with a recognizable mental retardation syndrome (Harada et al., 2004; Iwakoshi et al., 2004; Stewart et al., 2004; Neas et al., 2005). Common features in patients with 9q subtelomeric deletion syndrome are severe mental retardation, hypotonia, brachy(micro)cephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects. (610253)

MalaCards based summary : Kleefstra Syndrome 1, also known as chromosome 9q34.3 deletion syndrome, is related to kleefstra syndrome and kleefstra syndrome 2, and has symptoms including seizures An important gene associated with Kleefstra Syndrome 1 is EHMT1 (Euchromatic Histone Lysine Methyltransferase 1). Affiliated tissues include heart, tongue and testis, and related phenotypes are malar flattening and hypertelorism

UniProtKB/Swiss-Prot : ⁷⁵ Kleefstra syndrome 1: A form of Kleefstra syndrome, an autosomal dominant disease characterized by variable mental retardation, psychomotor developmental delay, seizures, behavioral abnormalities, and facial dysmorphisms. KLEFS1 patients additionally manifest brachy(micro)cephaly, congenital heart defects, and urogenital defects.

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Related Diseases for Kleefstra Syndrome 1

Diseases in the Kleefstra Syndrome family:

Kleefstra Syndrome 1	Kleefstra Syndrome 2
Kleefstra Syndrome Due to a Point Mutation

Diseases related to Kleefstra Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	kleefstra syndrome	11.3
2	kleefstra syndrome 2	10.9

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Symptoms & Phenotypes for Kleefstra Syndrome 1

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Eyes:
hypertelorism
synophrys
upslanting palpebral fissures

Neurologic Central Nervous System:
seizures
hypotonia
mental retardation, severe

Head And Neck Head:
microcephaly
brachycephaly

Head And Neck Face:
flat face
midface hypoplasia
prognathism
coarse facies

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
stereotypic movements
behavioral problems
obsessive-compulsive disorder
sleep disorders

Head And Neck Ears:
hearing loss
malformed ears

Growth Weight:
obesity

Head And Neck Mouth:
macroglossia
everted lower lip
carp-shaped mouth

Head And Neck Nose:
anteverted nares

Skeletal Hands:
brachydactyly
single transverse palmar creases

Skin Nails Hair Hair:
synophrys

Cardiovascular Heart:
conotruncal heart defects

Clinical features from OMIM:

610253

Human phenotypes related to Kleefstra Syndrome 1:

⁵⁹ ³² (show top 50) (show all 110)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	malar flattening ⁵⁹ ³²	frequent (33%)	Very frequent (99-80%)	HP:0000272
2	hypertelorism ⁵⁹ ³²	frequent (33%)	Very frequent (99-80%),Very frequent (99-80%)	HP:0000316
3	agenesis of corpus callosum ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%),Occasional (29-5%)	HP:0001274
4	obesity ⁵⁹ ³²	frequent (33%)	Frequent (79-30%),Frequent (79-30%)	HP:0001513
5	depressivity ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000716
6	intellectual disability ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001249
7	seizures ⁵⁹ ³²	very rare (1%)	Occasional (29-5%),Frequent (79-30%)	HP:0001250
8	muscular hypotonia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%),Very frequent (99-80%)	HP:0001252
9	failure to thrive ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001508
10	dysphasia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002357
11	sleep disturbance ⁵⁹ ³²	frequent (33%)	Frequent (79-30%),Occasional (29-5%)	HP:0002360
12	inguinal hernia ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000023
13	macroglossia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%),Frequent (79-30%)	HP:0000158
14	coarse facial features ⁵⁹ ³²	frequent (33%)	Very frequent (99-80%)	HP:0000280
15	mandibular prognathia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000303
16	hearing impairment ⁵⁹ ³²	very rare (1%)	Frequent (79-30%),Occasional (29-5%)	HP:0000365
17	global developmental delay ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%),Very frequent (99-80%)	HP:0001263
18	recurrent respiratory infections ⁵⁹ ³²	frequent (33%)	Occasional (29-5%)	HP:0002205
19	delayed speech and language development ⁵⁹ ³²	frequent (33%)	Very frequent (99-80%)	HP:0000750
20	short nose ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%),Very frequent (99-80%)	HP:0003196
21	microcephaly ⁵⁹ ³²	very rare (1%)	Frequent (79-30%),Frequent (79-30%)	HP:0000252
22	anteverted nares ⁵⁹ ³²	frequent (33%)	Very frequent (99-80%),Very frequent (99-80%)	HP:0000463
23	gastroesophageal reflux ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002020
24	renal insufficiency ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%),Occasional (29-5%)	HP:0000083
25	stereotypy ⁵⁹ ³²	frequent (33%)	Occasional (29-5%)	HP:0000733
26	brachycephaly ⁵⁹ ³²	frequent (33%)	Frequent (79-30%),Very frequent (99-80%)	HP:0000248
27	intellectual disability, severe ⁵⁹ ³²		Very frequent (99-80%)	HP:0010864
28	irritability ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000737
29	feeding difficulties ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0011968
30	everted lower lip vermilion ⁵⁹ ³²	frequent (33%)	Very frequent (99-80%),Very frequent (99-80%)	HP:0000232
31	cryptorchidism ⁵⁹ ³²	frequent (33%)	Occasional (29-5%),Frequent (79-30%)	HP:0000028
32	autism ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000717
33	growth delay ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001510
34	anxiety ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000739
35	specific learning disability ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001328
36	coarctation of aorta ⁵⁹ ³²	occasional (7.5%)	Frequent (79-30%),Occasional (29-5%)	HP:0001680
37	ventriculomegaly ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%),Occasional (29-5%)	HP:0002119
38	aphasia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002381
39	hypospadias ⁵⁹ ³²	frequent (33%)	Occasional (29-5%)	HP:0000047
40	absence seizures ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002121
41	upslanted palpebral fissure ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000582
42	downturned corners of mouth ⁵⁹ ³²	frequent (33%)	Occasional (29-5%),Frequent (79-30%)	HP:0002714
43	protruding tongue ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0010808
44	vesicoureteral reflux ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%),Occasional (29-5%)	HP:0000076
45	tetralogy of fallot ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%),Occasional (29-5%)	HP:0001636
46	talipes equinovarus ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001762
47	flat occiput ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0005469
48	hypoplasia of penis ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%),Occasional (29-5%)	HP:0008736
49	aggressive behavior ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000718
50	midface retrusion ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0011800

UMLS symptoms related to Kleefstra Syndrome 1:

seizures

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Drugs & Therapeutics for Kleefstra Syndrome 1

Search Clinical Trials , NIH Clinical Center for Kleefstra Syndrome 1

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Genetic Tests for Kleefstra Syndrome 1

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Anatomical Context for Kleefstra Syndrome 1

MalaCards organs/tissues related to Kleefstra Syndrome 1:

⁴¹

Heart, Tongue, Testis

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Publications for Kleefstra Syndrome 1

Articles related to Kleefstra Syndrome 1:

#	Title	Authors	Year
1	Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. ( 19264732 )	Kleefstra T....Brunner H.G.	2009
2	A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contractures. ( 18674647 )	Busche A....Horn D.	2008

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Genes for Kleefstra Syndrome 1

Genes related to Kleefstra Syndrome 1 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	EHMT1	Euchromatic Histone Lysine Methyltransferase 1	Protein Coding	1251.97	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Role in the phenotype ⁵⁹ GeneCards inferred via : Disorders Variants (show sections)	20945554 20466091 23519317 (more) 25190698 16826528 19264732

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Variations for Kleefstra Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Kleefstra Syndrome 1:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	EHMT1	p.Cys1075Tyr	VAR_069183

ClinVar genetic disease variations for Kleefstra Syndrome 1:

⁶

(show top 50) (show all 334)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	EHMT1	NM_024757.4(EHMT1): c.3502C> T (p.Arg1168Ter)	single nucleotide variant	Pathogenic	rs121918301	GRCh37	Chromosome 9, 140712552: 140712552
2	EHMT1	NM_024757.4(EHMT1): c.3502C> T (p.Arg1168Ter)	single nucleotide variant	Pathogenic	rs121918301	GRCh38	Chromosome 9, 137818100: 137818100
3	EHMT1	NM_024757.4(EHMT1): c.1413_1425delGGCACCAGGAGAC (p.Pro473Glnfs)	deletion	Pathogenic	rs137852715	GRCh37	Chromosome 9, 140652375: 140652387
4	EHMT1	NM_024757.4(EHMT1): c.1413_1425delGGCACCAGGAGAC (p.Pro473Glnfs)	deletion	Pathogenic	rs137852715	GRCh38	Chromosome 9, 137757923: 137757935
5	EHMT1	NM_024757.4(EHMT1): c.3218G> A (p.Cys1073Tyr)	single nucleotide variant	Pathogenic	rs137852726	GRCh37	Chromosome 9, 140708920: 140708920
6	EHMT1	NM_024757.4(EHMT1): c.3218G> A (p.Cys1073Tyr)	single nucleotide variant	Pathogenic	rs137852726	GRCh38	Chromosome 9, 137814468: 137814468
7	EHMT1	NM_024757.4(EHMT1): c.871C> T (p.Arg291Ter)	single nucleotide variant	Pathogenic	rs137852714	GRCh37	Chromosome 9, 140637870: 140637870
8	EHMT1	NM_024757.4(EHMT1): c.871C> T (p.Arg291Ter)	single nucleotide variant	Pathogenic	rs137852714	GRCh38	Chromosome 9, 137743418: 137743418
9	EHMT1	NM_024757.4(EHMT1): c.3181-80_3233del	deletion	Pathogenic		GRCh37	Chromosome 9, 140708803: 140708935
10	EHMT1	NM_024757.4(EHMT1): c.3181-80_3233del	deletion	Pathogenic		GRCh38	Chromosome 9, 137814351: 137814483
11	EHMT1	NM_024757.4(EHMT1): c.1533_1536delAGAC (p.Asp512Alafs)	deletion	Pathogenic	rs137852716	GRCh37	Chromosome 9, 140657158: 140657161
12	EHMT1	NM_024757.4(EHMT1): c.1533_1536delAGAC (p.Asp512Alafs)	deletion	Pathogenic	rs137852716	GRCh38	Chromosome 9, 137762706: 137762709
13	EHMT1	NM_024757.4(EHMT1): c.1810C> T (p.Gln604Ter)	single nucleotide variant	Pathogenic	rs137852717	GRCh37	Chromosome 9, 140671088: 140671088
14	EHMT1	NM_024757.4(EHMT1): c.1810C> T (p.Gln604Ter)	single nucleotide variant	Pathogenic	rs137852717	GRCh38	Chromosome 9, 137776636: 137776636
15	EHMT1	NM_024757.4(EHMT1): c.1858C> T (p.Arg620Ter)	single nucleotide variant	Pathogenic	rs137852718	GRCh37	Chromosome 9, 140671136: 140671136
16	EHMT1	NM_024757.4(EHMT1): c.1858C> T (p.Arg620Ter)	single nucleotide variant	Pathogenic	rs137852718	GRCh38	Chromosome 9, 137776684: 137776684
17	EHMT1	NM_024757.4(EHMT1): c.2028dupG (p.Pro677Alafs)	duplication	Pathogenic	rs786205128	GRCh37	Chromosome 9, 140672343: 140672343
18	EHMT1	NM_024757.4(EHMT1): c.2028dupG (p.Pro677Alafs)	duplication	Pathogenic	rs786205128	GRCh38	Chromosome 9, 137777891: 137777891
19	EHMT1	NM_024757.4(EHMT1): c.2193-1G> C	single nucleotide variant	Pathogenic	rs137852720	GRCh37	Chromosome 9, 140674086: 140674086
20	EHMT1	NM_024757.4(EHMT1): c.2193-1G> C	single nucleotide variant	Pathogenic	rs137852720	GRCh38	Chromosome 9, 137779634: 137779634
21	EHMT1	NM_024757.4(EHMT1): c.2863_2864delGT (p.Val955Argfs)	deletion	Pathogenic	rs137852721	GRCh37	Chromosome 9, 140706063: 140706064
22	EHMT1	NM_024757.4(EHMT1): c.2863_2864delGT (p.Val955Argfs)	deletion	Pathogenic	rs137852721	GRCh38	Chromosome 9, 137811611: 137811612
23	EHMT1	NM_024757.4(EHMT1): c.2868-1G> A	single nucleotide variant	Pathogenic	rs137852722	GRCh37	Chromosome 9, 140707457: 140707457
24	EHMT1	NM_024757.4(EHMT1): c.2868-1G> A	single nucleotide variant	Pathogenic	rs137852722	GRCh38	Chromosome 9, 137813005: 137813005
25	EHMT1	NM_024757.4(EHMT1): c.2877_2880delTTCT (p.Ser960Glyfs)	deletion	Pathogenic	rs786205129	GRCh37	Chromosome 9, 140707467: 140707470
26	EHMT1	NM_024757.4(EHMT1): c.2877_2880delTTCT (p.Ser960Glyfs)	deletion	Pathogenic	rs786205129	GRCh38	Chromosome 9, 137813015: 137813018
27	EHMT1	NM_024757.4(EHMT1): c.3180+1G> T	single nucleotide variant	Pathogenic	rs137852724	GRCh37	Chromosome 9, 140707983: 140707983
28	EHMT1	NM_024757.4(EHMT1): c.3180+1G> T	single nucleotide variant	Pathogenic	rs137852724	GRCh38	Chromosome 9, 137813531: 137813531
29	EHMT1	NM_024757.4(EHMT1): c.3229C> T (p.Gln1077Ter)	single nucleotide variant	Pathogenic	rs137852725	GRCh37	Chromosome 9, 140708931: 140708931
30	EHMT1	NM_024757.4(EHMT1): c.3229C> T (p.Gln1077Ter)	single nucleotide variant	Pathogenic	rs137852725	GRCh38	Chromosome 9, 137814479: 137814479
31	EHMT1	NM_024757.4(EHMT1): c.3589C> T (p.Arg1197Trp)	single nucleotide variant	Pathogenic	rs137852727	GRCh37	Chromosome 9, 140728849: 140728849
32	EHMT1	NM_024757.4(EHMT1): c.3589C> T (p.Arg1197Trp)	single nucleotide variant	Pathogenic	rs137852727	GRCh38	Chromosome 9, 137834397: 137834397
33	EHMT1	NM_024757.4(EHMT1): c.480C> T (p.Gly160=)	single nucleotide variant	Benign/Likely benign	rs150135875	GRCh37	Chromosome 9, 140611472: 140611472
34	EHMT1	NM_024757.4(EHMT1): c.480C> T (p.Gly160=)	single nucleotide variant	Benign/Likely benign	rs150135875	GRCh38	Chromosome 9, 137717020: 137717020
35	EHMT1	NM_024757.4(EHMT1): c.2040G> A (p.Ser680=)	single nucleotide variant	Benign	rs150451099	GRCh37	Chromosome 9, 140672355: 140672355
36	EHMT1	NM_024757.4(EHMT1): c.2040G> A (p.Ser680=)	single nucleotide variant	Benign	rs150451099	GRCh38	Chromosome 9, 137777903: 137777903
37	EHMT1	NM_024757.4(EHMT1): c.2595C> T (p.Asp865=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs780742937	GRCh37	Chromosome 9, 140693354: 140693354
38	EHMT1	NM_024757.4(EHMT1): c.2595C> T (p.Asp865=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs780742937	GRCh38	Chromosome 9, 137798902: 137798902
39	EHMT1	NM_024757.4(EHMT1): c.2695A> G (p.Ile899Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs144085805	GRCh37	Chromosome 9, 140695419: 140695419
40	EHMT1	NM_024757.4(EHMT1): c.2695A> G (p.Ile899Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs144085805	GRCh38	Chromosome 9, 137800967: 137800967
41	EHMT1	NM_024757.4(EHMT1): c.3011G> A (p.Ser1004Asn)	single nucleotide variant	Benign/Likely benign	rs138283222	GRCh37	Chromosome 9, 140707601: 140707601
42	EHMT1	NM_024757.4(EHMT1): c.3011G> A (p.Ser1004Asn)	single nucleotide variant	Benign/Likely benign	rs138283222	GRCh38	Chromosome 9, 137813149: 137813149
43	EHMT1	NM_024757.4(EHMT1): c.581C> T (p.Pro194Leu)	single nucleotide variant	Benign	rs35570782	GRCh37	Chromosome 9, 140611573: 140611573
44	EHMT1	NM_024757.4(EHMT1): c.581C> T (p.Pro194Leu)	single nucleotide variant	Benign	rs35570782	GRCh38	Chromosome 9, 137717121: 137717121
45	EHMT1	NM_024757.4(EHMT1): c.183C> T (p.Ser61=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs774448433	GRCh37	Chromosome 9, 140611175: 140611175
46	EHMT1	NM_024757.4(EHMT1): c.183C> T (p.Ser61=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs774448433	GRCh38	Chromosome 9, 137716723: 137716723
47	EHMT1	NM_024757.4(EHMT1): c.737G> A (p.Arg246Gln)	single nucleotide variant	Likely benign	rs144871446	GRCh37	Chromosome 9, 140622895: 140622895
48	EHMT1	NM_024757.4(EHMT1): c.737G> A (p.Arg246Gln)	single nucleotide variant	Likely benign	rs144871446	GRCh38	Chromosome 9, 137728443: 137728443
49	EHMT1	NM_024757.4(EHMT1): c.391delG (p.Ala131Profs)	deletion	Pathogenic	rs797045043	GRCh37	Chromosome 9, 140611383: 140611383
50	EHMT1	NM_024757.4(EHMT1): c.391delG (p.Ala131Profs)	deletion	Pathogenic	rs797045043	GRCh38	Chromosome 9, 137716931: 137716931

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Expression for Kleefstra Syndrome 1

Search GEO for disease gene expression data for Kleefstra Syndrome 1.

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Pathways for Kleefstra Syndrome 1

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GO Terms for Kleefstra Syndrome 1

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Sources for Kleefstra Syndrome 1

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