Kabuki Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

KABUK2 MCID: KBK003 MIFTS: 27	Kabuki Syndrome 2 (KABUK2) Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Kabuki Syndrome 2

MalaCards integrated aliases for Kabuki Syndrome 2:

Name: Kabuki Syndrome 2 ⁵⁸ ⁷⁶ ³⁰ ¹³ ⁶ ⁷⁴

Kabuk2 ⁵⁸ ⁷⁶

Kabuki Syndrome, Type 2 ⁴¹

Characteristics:

OMIM:

⁵⁸

Inheritance:
x-linked dominant

Miscellaneous:
severity of phenotype may vary with x-inactivation patterns and/or mutation type

HPO:

³³

kabuki syndrome 2:
Inheritance x-linked dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 300867

MeSH ⁴⁵ D000015

MedGen ⁴³ C3275495

SNOMED-CT via HPO ⁷⁰ 103276001 128602000 128613002 more

UMLS ⁷⁴ C3275495

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Summaries for Kabuki Syndrome 2

OMIM : ⁵⁸ Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). For a discussion of genetic heterogeneity of Kabuki syndrome, see KABUK1 (147920). (300867)

MalaCards based summary : Kabuki Syndrome 2, also known as kabuk2, is related to kabuki syndrome 1 and hyperinsulinism, and has symptoms including seizures An important gene associated with Kabuki Syndrome 2 is KDM6A (Lysine Demethylase 6A). Affiliated tissues include heart, breast and eye, and related phenotypes are atrial septal defect and coarctation of aorta

UniProtKB/Swiss-Prot : ⁷⁶ Kabuki syndrome 2: A congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids, a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy.

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Related Diseases for Kabuki Syndrome 2

Diseases in the Kabuki Syndrome 1 family:

Kabuki Syndrome 2

Diseases related to Kabuki Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	kabuki syndrome 1	9.9
2	hyperinsulinism	9.9

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Symptoms & Phenotypes for Kabuki Syndrome 2

Human phenotypes related to Kabuki Syndrome 2:

³³ (show all 49)

#	Description	HPO Frequency	HPO Source Accession
1	atrial septal defect ³³	occasional (7.5%)	HP:0001631
2	coarctation of aorta ³³	occasional (7.5%)	HP:0001680
3	brachydactyly ³³	occasional (7.5%)	HP:0001156
4	pulmonic stenosis ³³	occasional (7.5%)	HP:0001642
5	atrioventricular canal defect ³³	occasional (7.5%)	HP:0006695
6	cupped ear ³³	occasional (7.5%)	HP:0000378
7	natal tooth ³³	occasional (7.5%)	HP:0000695
8	low-set ears ³³	very rare (1%)	HP:0000369
9	high palate ³³	very rare (1%)	HP:0000218
10	intellectual disability ³³	very rare (1%)	HP:0001249
11	seizures ³³	very rare (1%)	HP:0001250
12	hearing impairment ³³	very rare (1%)	HP:0000365
13	macrotia ³³	very rare (1%)	HP:0000400
14	global developmental delay ³³	very rare (1%)	HP:0001263
15	microcephaly ³³	very rare (1%)	HP:0000252
16	short stature ³³	very rare (1%)	HP:0004322
17	cleft palate ³³	very rare (1%)	HP:0000175
18	micrognathia ³³	very rare (1%)	HP:0000347
19	epicanthus ³³	very rare (1%)	HP:0000286
20	intrauterine growth retardation ³³	very rare (1%)	HP:0001511
21	postnatal growth retardation ³³	very rare (1%)	HP:0008897
22	recurrent otitis media ³³	very rare (1%)	HP:0000403
23	protruding ear ³³	very rare (1%)	HP:0000411
24	joint laxity ³³	very rare (1%)	HP:0001388
25	hip dislocation ³³	very rare (1%)	HP:0002827
26	hypodontia ³³	very rare (1%)	HP:0000668
27	highly arched eyebrow ³³	very rare (1%)	HP:0002553
28	long palpebral fissure ³³	very rare (1%)	HP:0000637
29	blue sclerae ³³	very rare (1%)	HP:0000592
30	neonatal hypoglycemia ³³	very rare (1%)	HP:0001998
31	generalized hypotonia ³³	very rare (1%)	HP:0001290
32	depressed nasal tip ³³	very rare (1%)	HP:0000437
33	short columella ³³	very rare (1%)	HP:0002000
34	lower lip pit ³³	very rare (1%)	HP:0000196
35	hirsutism ³³	very rare (1%)	HP:0001007
36	short 5th finger ³³	very rare (1%)	HP:0009237
37	eversion of lateral third of lower eyelids ³³	very rare (1%)	HP:0007655
38	prominent fingertip pads ³³	very rare (1%)	HP:0001212
39	muscular hypotonia ³³		HP:0001252
40	dental malocclusion ³³		HP:0000689
41	behavioral abnormality ³³		HP:0000708
42	feeding difficulties in infancy ³³		HP:0008872
43	strabismus ³³		HP:0000486
44	broad nasal tip ³³		HP:0000455
45	long eyelashes ³³		HP:0000527
46	decreased body weight ³³		HP:0004325
47	sparse lateral eyebrow ³³		HP:0005338
48	central hypotonia ³³		HP:0011398
49	abnormality of the breast ³³		HP:0000769

Symptoms via clinical synopsis from OMIM:

⁵⁸

Neurologic Central Nervous System:
seizures
hypotonia
developmental delay, mild to severe

Abdomen Gastrointestinal:
feeding difficulties in infancy

Metabolic Features:
neonatal hypoglycemia

Skin Nails Hair Hair:
hirsutism
long eyelashes sparse lateral eyebrows

Head And Neck Ears:
prominent ears
cupped ears (in some patients)
large auricle

Skeletal:
joint hyperlaxity

Growth Height:
less than third centile

Head And Neck Head:
occipitofrontal circumference less than third centile

Chest Breasts:
areolar fullness in infancy

Head And Neck Teeth:
dental malocclusion
hypodontia
abnormal dentition
neonatal teeth (rare)

Head And Neck Eyes:
strabismus
long palpebral fissure
long eyelashes
arched eyebrows
sparse lateral eyebrows
more

Head And Neck Nose:
short columella
broad and/or depressed tip of nose

Head And Neck Mouth:
high-arched palate
cleft palate (rare)

Cardiovascular Heart:
congenital heart disease
atrial septal defect (in some patients)
atrioventricular septal defect (rare)
pulmonary valve stenosis (rare)
hypoplastic right ventricle (rare)

Skeletal Hands:
brachydactyly (in some patients)
persistent fetal fingertip pads

Growth Weight:
less than third centile

Cardiovascular Vascular:
aortic coarctation (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
behavioral difficulties

Clinical features from OMIM:

300867

UMLS symptoms related to Kabuki Syndrome 2:

seizures

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Drugs & Therapeutics for Kabuki Syndrome 2

Search Clinical Trials , NIH Clinical Center for Kabuki Syndrome 2

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Genetic Tests for Kabuki Syndrome 2

Genetic tests related to Kabuki Syndrome 2:

#	Genetic test	Affiliating Genes
1	Kabuki Syndrome 2 ³⁰	KDM6A

Sources

Anatomical Context for Kabuki Syndrome 2

MalaCards organs/tissues related to Kabuki Syndrome 2:

⁴²

Heart, Breast, Eye

Sources

Publications for Kabuki Syndrome 2

Articles related to Kabuki Syndrome 2:

#	Title	Authors	Year
1	Persistent Hyperinsulinism in Kabuki Syndrome 2: Case Report and Literature Review. ( 27777708 )	Gole H...Coman D	2016
2	A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A. ( 24664873 )	Lederer D...Maystadt I	2014
3	KDM6A point mutations cause Kabuki syndrome. ( 23076834 )	Miyake N...Matsumoto N	2013
4	MLL2 and KDM6A mutations in patients with Kabuki syndrome. ( 23913813 )	Miyake N...Niikawa N	2013
5	Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. ( 22197486 )	Lederer D...Verellen-Dumoulin C	2012

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Genes for Kabuki Syndrome 2

Genes related to Kabuki Syndrome 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	KDM6A	Lysine Demethylase 6A	Protein Coding	1028.41	Molecular basis known ⁵⁸ Pathogenic ⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	23076834 21882399 24664873 (more) 22197486 23913813

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Variations for Kabuki Syndrome 2

ClinVar genetic disease variations for Kabuki Syndrome 2:

⁶ (show top 50) (show all 60)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	KDM6A	NG_016260.1: g.138880_185296del46417	deletion	Pathogenic		GRCh37	Chromosome X, 44866302: 44912718
2	KDM6A	NG_016260.1: g.138880_185296del46417	deletion	Pathogenic		GRCh38	Chromosome X, 45007057: 45053473
3	KDM6A	NM_001291415.1(KDM6A): c.3873G> A (p.Trp1291Ter)	single nucleotide variant	Pathogenic	rs398122929	GRCh37	Chromosome X, 44949156: 44949156
4	KDM6A	NM_001291415.1(KDM6A): c.3873G> A (p.Trp1291Ter)	single nucleotide variant	Pathogenic	rs398122929	GRCh38	Chromosome X, 45089911: 45089911
5	KDM6A	NM_001291415.1(KDM6A): c.1711C> T (p.Arg571Ter)	single nucleotide variant	Pathogenic	rs397514628	GRCh37	Chromosome X, 44922694: 44922694
6	KDM6A	NM_001291415.1(KDM6A): c.1711C> T (p.Arg571Ter)	single nucleotide variant	Pathogenic	rs397514628	GRCh38	Chromosome X, 45063449: 45063449
7	KDM6A	NM_001291415.1(KDM6A): c.3510_3512del (p.Leu1171del)	deletion	Pathogenic	rs398122829	GRCh37	Chromosome X, 44942774: 44942776
8	KDM6A	NM_001291415.1(KDM6A): c.3510_3512del (p.Leu1171del)	deletion	Pathogenic	rs398122829	GRCh38	Chromosome X, 45083529: 45083531
9	KDM6A	NM_001291415.1(KDM6A): c.2065_2068del (p.Ser689Thrfs)	deletion	Pathogenic	rs398122969	GRCh37	Chromosome X, 44923048: 44923051
10	KDM6A	NM_001291415.1(KDM6A): c.2065_2068del (p.Ser689Thrfs)	deletion	Pathogenic	rs398122969	GRCh38	Chromosome X, 45063803: 45063806
11	KDM6A	NM_021140.3(KDM6A): c.4052G> A (p.Arg1351Gln)	single nucleotide variant	Uncertain significance	rs370765411	GRCh37	Chromosome X, 44969370: 44969370
12	KDM6A	NM_021140.3(KDM6A): c.4052G> A (p.Arg1351Gln)	single nucleotide variant	Uncertain significance	rs370765411	GRCh38	Chromosome X, 45110125: 45110125
13	KDM6A	NM_021140.3(KDM6A): c.752G> A (p.Trp251Ter)	single nucleotide variant	Likely pathogenic	rs793888509	GRCh38	Chromosome X, 45053832: 45053832
14	KDM6A	NM_021140.3(KDM6A): c.752G> A (p.Trp251Ter)	single nucleotide variant	Likely pathogenic	rs793888509	GRCh37	Chromosome X, 44913077: 44913077
15	KDM6A	NM_021140.3(KDM6A): c.3736+2T> C	single nucleotide variant	Likely pathogenic	rs793888510	GRCh37	Chromosome X, 44949177: 44949177
16	KDM6A	NM_021140.3(KDM6A): c.3736+2T> C	single nucleotide variant	Likely pathogenic	rs793888510	GRCh38	Chromosome X, 45089932: 45089932
17	subset of 15 genes:KDM6A; MAOA; NDP; RP2; ZNF674	NC_000023.10: g.(?_43479884)_(46741003_?)del	deletion	Likely pathogenic		GRCh37	Chromosome X, 43479884: 46741003
18	DIPK2B; DUSP21; EFHC2; FUNDC1; KDM6A; MAOA; MAOB; NDP	NC_000023.10: g.(?_43479884)_(45501849_?)del	deletion	Likely pathogenic		GRCh37	Chromosome X, 43479884: 45501849
19	KDM6A	NM_021140.3(KDM6A): c.2515_2518delAACA (p.Asn839Valfs)	deletion	Pathogenic	rs786205676	GRCh38	Chromosome X, 45070170: 45070173
20	KDM6A	NM_021140.3(KDM6A): c.2515_2518delAACA (p.Asn839Valfs)	deletion	Pathogenic	rs786205676	GRCh37	Chromosome X, 44929415: 44929418
21	KDM6A	NM_021140.3(KDM6A): c.1543del (p.Val515Leufs)	deletion	Pathogenic	rs797045642	GRCh38	Chromosome X, 45063437: 45063437
22	KDM6A	NM_021140.3(KDM6A): c.1543del (p.Val515Leufs)	deletion	Pathogenic	rs797045642	GRCh37	Chromosome X, 44922682: 44922682
23	KDM6A	NM_021140.3(KDM6A): c.2832+2dup	duplication	Likely pathogenic	rs797045643	GRCh37	Chromosome X, 44936073: 44936073
24	KDM6A	NM_021140.3(KDM6A): c.2832+2dup	duplication	Likely pathogenic	rs797045643	GRCh38	Chromosome X, 45076828: 45076828
25	KDM6A	NM_021140.3(KDM6A): c.3635A> G (p.Gln1212Arg)	single nucleotide variant	Likely pathogenic	rs797045644	GRCh37	Chromosome X, 44949074: 44949074
26	KDM6A	NM_021140.3(KDM6A): c.3635A> G (p.Gln1212Arg)	single nucleotide variant	Likely pathogenic	rs797045644	GRCh38	Chromosome X, 45089829: 45089829
27	KDM6A	NM_021140.3(KDM6A): c.3835C> T (p.Arg1279Ter)	single nucleotide variant	Likely pathogenic	rs863224886	GRCh38	Chromosome X, 45090821: 45090821
28	KDM6A	NM_021140.3(KDM6A): c.3835C> T (p.Arg1279Ter)	single nucleotide variant	Likely pathogenic	rs863224886	GRCh37	Chromosome X, 44950066: 44950066
29	KDM6A	NM_001291415.1(KDM6A): c.1907C> T (p.Thr636Met)	single nucleotide variant	Likely benign	rs141353229	GRCh37	Chromosome X, 44922890: 44922890
30	KDM6A	NM_001291415.1(KDM6A): c.1907C> T (p.Thr636Met)	single nucleotide variant	Likely benign	rs141353229	GRCh38	Chromosome X, 45063645: 45063645
31	KDM6A	NM_021140.3(KDM6A): c.3598C> T (p.Leu1200Phe)	single nucleotide variant	Likely pathogenic	rs1060499665	GRCh38	Chromosome X, 45089792: 45089792
32	KDM6A	NM_021140.3(KDM6A): c.3598C> T (p.Leu1200Phe)	single nucleotide variant	Likely pathogenic	rs1060499665	GRCh37	Chromosome X, 44949037: 44949037
33	KDM6A	NM_001291415.1(KDM6A): c.2988+1G> C	single nucleotide variant	Pathogenic	rs1135401809	GRCh37	Chromosome X, 44936072: 44936072
34	KDM6A	NM_001291415.1(KDM6A): c.2988+1G> C	single nucleotide variant	Pathogenic	rs1135401809	GRCh38	Chromosome X, 45076827: 45076827
35	KDM6A	NM_001291415.1(KDM6A): c.2257_2260dup (p.His754Leufs)	duplication	Pathogenic	rs1556328781	GRCh37	Chromosome X, 44929001: 44929004
36	KDM6A	NM_001291415.1(KDM6A): c.2257_2260dup (p.His754Leufs)	duplication	Pathogenic	rs1556328781	GRCh38	Chromosome X, 45069756: 45069759
37	KDM6A	NM_021140.3(KDM6A): c.3016C> T (p.Gln1006Ter)	single nucleotide variant	Pathogenic	rs1556341546	GRCh37	Chromosome X, 44938468: 44938468
38	KDM6A	NM_021140.3(KDM6A): c.3016C> T (p.Gln1006Ter)	single nucleotide variant	Pathogenic	rs1556341546	GRCh38	Chromosome X, 45079223: 45079223
39	KDM6A	NM_021140.3(KDM6A): c.3714T> C (p.Ala1238=)	single nucleotide variant	Benign	rs142238688	GRCh37	Chromosome X, 44949153: 44949153
40	KDM6A	NM_021140.3(KDM6A): c.3714T> C (p.Ala1238=)	single nucleotide variant	Benign	rs142238688	GRCh38	Chromosome X, 45089908: 45089908
41	KDM6A	NM_021140.3(KDM6A): c.250A> G (p.Ile84Val)	single nucleotide variant	Uncertain significance	rs1373790479	GRCh37	Chromosome X, 44820553: 44820553
42	KDM6A	NM_021140.3(KDM6A): c.250A> G (p.Ile84Val)	single nucleotide variant	Uncertain significance	rs1373790479	GRCh38	Chromosome X, 44961308: 44961308
43	KDM6A	NM_021140.3(KDM6A): c.2462_2463delCA (p.Ser821Cysfs)	deletion	Pathogenic	rs1556330304	GRCh37	Chromosome X, 44929362: 44929363
44	KDM6A	NM_021140.3(KDM6A): c.2462_2463delCA (p.Ser821Cysfs)	deletion	Pathogenic	rs1556330304	GRCh38	Chromosome X, 45070117: 45070118
45	KDM6A	NM_001291415.1(KDM6A): c.2988+1G> A	single nucleotide variant	Pathogenic	rs1135401809	GRCh37	Chromosome X, 44936072: 44936072
46	KDM6A	NM_001291415.1(KDM6A): c.2988+1G> A	single nucleotide variant	Pathogenic	rs1135401809	GRCh38	Chromosome X, 45076827: 45076827
47	KDM6A	NM_001291415.1(KDM6A): c.3614G> A (p.Cys1205Tyr)	single nucleotide variant	Uncertain significance	rs1556350571	GRCh37	Chromosome X, 44945134: 44945134
48	KDM6A	NM_001291415.1(KDM6A): c.3614G> A (p.Cys1205Tyr)	single nucleotide variant	Uncertain significance	rs1556350571	GRCh38	Chromosome X, 45085889: 45085889
49	KDM6A	NM_021140.3(KDM6A): c.1396_1399dup (p.Trp467Phefs)	duplication	Pathogenic	rs1556311265	GRCh38	Chromosome X, 45061390: 45061393
50	KDM6A	NM_021140.3(KDM6A): c.1396_1399dup (p.Trp467Phefs)	duplication	Pathogenic	rs1556311265	GRCh37	Chromosome X, 44920635: 44920638

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Expression for Kabuki Syndrome 2

Search GEO for disease gene expression data for Kabuki Syndrome 2.

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Pathways for Kabuki Syndrome 2

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GO Terms for Kabuki Syndrome 2

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Sources for Kabuki Syndrome 2

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²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

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²⁸ GEO DataSets

²⁹ GO

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³¹ HGMD

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³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

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⁵¹ NCIt

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⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

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⁶⁶ R&D Systems

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⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Kabuki Syndrome 2 (KABUK2)

Aliases & Classifications for Kabuki Syndrome 2

MalaCards integrated aliases for Kabuki Syndrome 2:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Kabuki Syndrome 2

Related Diseases for Kabuki Syndrome 2

Diseases in the Kabuki Syndrome 1 family:

Diseases related to Kabuki Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Kabuki Syndrome 2

Human phenotypes related to Kabuki Syndrome 2:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Kabuki Syndrome 2:

Drugs & Therapeutics for Kabuki Syndrome 2

Genetic Tests for Kabuki Syndrome 2

Genetic tests related to Kabuki Syndrome 2:

Anatomical Context for Kabuki Syndrome 2

MalaCards organs/tissues related to Kabuki Syndrome 2:

Publications for Kabuki Syndrome 2

Articles related to Kabuki Syndrome 2:

Genes for Kabuki Syndrome 2

Genes related to Kabuki Syndrome 2 (1 elite genes):

Variations for Kabuki Syndrome 2

ClinVar genetic disease variations for Kabuki Syndrome 2:

Expression for Kabuki Syndrome 2

Pathways for Kabuki Syndrome 2

GO Terms for Kabuki Syndrome 2

Sources for Kabuki Syndrome 2