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

KABUK2 MCID: KBK003 MIFTS: 31	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 ⁵⁶ ⁷³ ²⁹ ¹³ ⁶ ⁷¹

Kabuk2 ⁵⁶ ⁷³

Kabuki Syndrome, Type 2 ³⁹

Characteristics:

OMIM:

⁵⁶

Inheritance:
x-linked dominant

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

HPO:

³¹

kabuki syndrome 2:
Inheritance x-linked dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 300867

OMIM Phenotypic Series ⁵⁶ PS147920

MeSH ⁴³ D000015

MedGen ⁴¹ C3275495

UMLS ⁷¹ C3275495

Sources

Summaries for Kabuki Syndrome 2

OMIM : ⁵⁶ 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 alacrima, achalasia, and mental retardation syndrome, and has symptoms including seizures An important gene associated with Kabuki Syndrome 2 is KDM6A (Lysine Demethylase 6A). Affiliated tissues include heart and brain, and related phenotypes are atrial septal defect and coarctation of aorta

UniProtKB/Swiss-Prot : ⁷³ 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
1	kabuki syndrome 1	10.0
2	alacrima, achalasia, and mental retardation syndrome	9.9
3	hyperinsulinism	9.9
4	hypoglycemia	9.9

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Symptoms & Phenotypes for Kabuki Syndrome 2

Human phenotypes related to Kabuki Syndrome 2:

³¹ (show all 49)

#	Description	HPO Frequency	HPO Source Accession
1	atrial septal defect ³¹	occasional (7.5%)	HP:0001631
2	coarctation of aorta ³¹	occasional (7.5%)	HP:0001680
3	brachydactyly ³¹	occasional (7.5%)	HP:0001156
4	pulmonic stenosis ³¹	occasional (7.5%)	HP:0001642
5	atrioventricular canal defect ³¹	occasional (7.5%)	HP:0006695
6	cupped ear ³¹	occasional (7.5%)	HP:0000378
7	natal tooth ³¹	occasional (7.5%)	HP:0000695
8	hearing impairment ³¹	very rare (1%)	HP:0000365
9	intellectual disability ³¹	very rare (1%)	HP:0001249
10	global developmental delay ³¹	very rare (1%)	HP:0001263
11	macrotia ³¹	very rare (1%)	HP:0000400
12	microcephaly ³¹	very rare (1%)	HP:0000252
13	short stature ³¹	very rare (1%)	HP:0004322
14	cleft palate ³¹	very rare (1%)	HP:0000175
15	intrauterine growth retardation ³¹	very rare (1%)	HP:0001511
16	postnatal growth retardation ³¹	very rare (1%)	HP:0008897
17	high palate ³¹	very rare (1%)	HP:0000218
18	micrognathia ³¹	very rare (1%)	HP:0000347
19	low-set ears ³¹	very rare (1%)	HP:0000369
20	recurrent otitis media ³¹	very rare (1%)	HP:0000403
21	epicanthus ³¹	very rare (1%)	HP:0000286
22	joint laxity ³¹	very rare (1%)	HP:0001388
23	highly arched eyebrow ³¹	very rare (1%)	HP:0002553
24	protruding ear ³¹	very rare (1%)	HP:0000411
25	hip dislocation ³¹	very rare (1%)	HP:0002827
26	hypodontia ³¹	very rare (1%)	HP:0000668
27	blue sclerae ³¹	very rare (1%)	HP:0000592
28	neonatal hypoglycemia ³¹	very rare (1%)	HP:0001998
29	depressed nasal tip ³¹	very rare (1%)	HP:0000437
30	short columella ³¹	very rare (1%)	HP:0002000
31	hirsutism ³¹	very rare (1%)	HP:0001007
32	generalized hypotonia ³¹	very rare (1%)	HP:0001290
33	lower lip pit ³¹	very rare (1%)	HP:0000196
34	short 5th finger ³¹	very rare (1%)	HP:0009237
35	long palpebral fissure ³¹	very rare (1%)	HP:0000637
36	eversion of lateral third of lower eyelids ³¹	very rare (1%)	HP:0007655
37	prominent fingertip pads ³¹	very rare (1%)	HP:0001212
38	seizure ³¹	very rare (1%)	HP:0001250
39	areolar fullness ³¹	very rare (1%)	HP:0032315
40	behavioral abnormality ³¹		HP:0000708
41	muscular hypotonia ³¹		HP:0001252
42	dental malocclusion ³¹		HP:0000689
43	feeding difficulties in infancy ³¹		HP:0008872
44	strabismus ³¹		HP:0000486
45	decreased body weight ³¹		HP:0004325
46	sparse lateral eyebrow ³¹		HP:0005338
47	long eyelashes ³¹		HP:0000527
48	broad nasal tip ³¹		HP:0000455
49	central hypotonia ³¹		HP:0011398

Symptoms via clinical synopsis from OMIM:

⁵⁶

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

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

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

Head And Neck Eyes:
strabismus
long eyelashes
long palpebral fissure
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

Sources

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 ²⁹	KDM6A

Sources

Anatomical Context for Kabuki Syndrome 2

MalaCards organs/tissues related to Kabuki Syndrome 2:

⁴⁰

Heart, Brain

Sources

Publications for Kabuki Syndrome 2

Articles related to Kabuki Syndrome 2:

(show all 11)

#	Title	Authors	PMID	Year
1	A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A. ⁶ ⁵⁶	Lederer D...Maystadt I	24664873	2014
2	MLL2 and KDM6A mutations in patients with Kabuki syndrome. ⁶ ⁵⁶	Miyake N...Niikawa N	23913813	2013
3	KDM6A point mutations cause Kabuki syndrome. ⁵⁶ ⁶	Miyake N...Matsumoto N	23076834	2013
4	Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. ⁶ ⁵⁶	Lederer D...Verellen-Dumoulin C	22197486	2012
5	Kabuki syndrome: international consensus diagnostic criteria. ⁵⁶	Adam MP...Kabuki Syndrome Medical Advisory Board	30514738	2019
6	Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development. ⁵⁶	Van Laarhoven PM...Shaikh TH	25972376	2015
7	Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients. ⁵⁶	Micale L...Merla G	24633898	2014
8	Kabuki Syndrome ⁶	Adam MP...Hannibal M	21882399	2011
9	Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. ⁵⁶	Niikawa N...Kajii T	7277096	1981
10	A fetus with Kabuki syndrome 2 detected by chromosomal microarray analysis. ⁶¹	Lin CZ...Huang XQ	32211113	2020
11	Persistent Hyperinsulinism in Kabuki Syndrome 2: Case Report and Literature Review. ⁶¹	Gole H...Coman D	27777708	2016

Sources

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	1018.71	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	23076834 24664873 22197486 (more) 21882399 23913813

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Variations for Kabuki Syndrome 2

ClinVar genetic disease variations for Kabuki Syndrome 2:

⁶ (show top 50) (show all 55) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	KDM6A	NM_001291415.1(KDM6A):c.2988+1G>C	SNV	Pathogenic	431139	rs1135401809	X:44936072-44936072	X:45076827-45076827
2	KDM6A	NM_021140.3(KDM6A):c.2101_2102TC[4] (p.His702fs)	short repeat	Pathogenic	471947	rs1556328781	X:44928999-44929000	X:45069754-45069755
3	KDM6A	NM_021140.3(KDM6A):c.3016C>T (p.Gln1006Ter)	SNV	Pathogenic	471948	rs1556341546	X:44938468-44938468	X:45079223-45079223
4	KDM6A	NM_021140.3(KDM6A):c.2462_2463del (p.Ser821fs)	deletion	Pathogenic	539319	rs1556330304	X:44929362-44929363	X:45070117-45070118
5	KDM6A	NM_021140.3(KDM6A):c.2832+1G>A	SNV	Pathogenic	545065	rs1135401809	X:44936072-44936072	X:45076827-45076827
6	KDM6A	NM_021140.3(KDM6A):c.1392_1395TCAT[3] (p.Trp467fs)	short repeat	Pathogenic	559639	rs1556311265	X:44920630-44920631	X:45061385-45061386
7	KDM6A	NM_021140.3(KDM6A):c.2646_2647dup (p.Pro883fs)	duplication	Pathogenic	637050		X:44929545-44929546	X:45070300-45070301
8	KDM6A	NM_021140.3(KDM6A):c.4051C>T (p.Arg1351Ter)	SNV	Pathogenic	644617		X:44969369-44969369	X:45110124-45110124
9	KDM6A	NM_001291415.2(KDM6A):c.493C>T (p.Arg165Ter)	SNV	Pathogenic	692010		X:44879904-44879904	X:45020659-45020659
10	KDM6A	NM_001291415.2(KDM6A):c.3198del (p.Thr1067fs)	deletion	Pathogenic	692059		X:44938492-44938492	X:45079247-45079247
11	KDM6A	NM_021140.3(KDM6A):c.3351_3353TCT[1] (p.Leu1119del)	short repeat	Pathogenic	39994	rs398122829	X:44942771-44942773	X:45083526-45083528
12	KDM6A	nsv1067838	deletion	Pathogenic	29935		X:44866302-44912718	X:45007057-45053473
13	KDM6A	NM_021140.3(KDM6A):c.3717G>A (p.Trp1239Ter)	SNV	Pathogenic	39992	rs398122929	X:44949156-44949156	X:45089911-45089911
14	KDM6A	NM_021140.3(KDM6A):c.1555C>T (p.Arg519Ter)	SNV	Pathogenic	39993	rs397514628	X:44922694-44922694	X:45063449-45063449
15	KDM6A	NM_021140.3(KDM6A):c.1909_1912del (p.Ser637fs)	deletion	Pathogenic	91403	rs398122969	X:44923045-44923048	X:45063800-45063803
16	KDM6A	NM_001291415.2(KDM6A):c.2608del (p.Ser870fs)	deletion	Pathogenic	861724		X:44929351-44929351	X:45070106-45070106
17	KDM6A	NM_021140.3(KDM6A):c.1543del (p.Val515fs)	deletion	Pathogenic	211254	rs797045642	X:44922682-44922682	X:45063437-45063437
18	KDM6A	NM_021140.3(KDM6A):c.2515_2518del (p.Asn839fs)	deletion	Pathogenic	190247	rs786205676	X:44929412-44929415	X:45070167-45070170
19	KDM6A	NM_021140.3(KDM6A):c.2832+2dup	duplication	Likely pathogenic	211256	rs797045643	X:44936072-44936073	X:45076827-45076828
20	KDM6A	NM_021140.3(KDM6A):c.3635A>G (p.Gln1212Arg)	SNV	Likely pathogenic	211257	rs797045644	X:44949074-44949074	X:45089829-45089829
21	KDM6A	NM_021140.3(KDM6A):c.3835C>T (p.Arg1279Ter)	SNV	Likely pathogenic	216950	rs863224886	X:44950066-44950066	X:45090821-45090821
22	KDM6A	NM_021140.3(KDM6A):c.3584C>T (p.Pro1195Leu)	SNV	Likely pathogenic	648826		X:44949023-44949023	X:45089778-45089778
23	KDM6A	NM_021140.3(KDM6A):c.752G>A (p.Trp251Ter)	SNV	Likely pathogenic	183368	rs793888509	X:44913077-44913077	X:45053832-45053832
24	DIPK2B , DUSP21 , EFHC2 , FUNDC1 , KDM6A , MAOA , MAOB , NDP	NC_000023.10:g.(?_43479884)_(45501849_?)del	deletion	Likely pathogenic	183367		X:43479884-45501849
25	KDM6A	NM_021140.3(KDM6A):c.3736+2T>C	SNV	Likely pathogenic	183369	rs793888510	X:44949177-44949177	X:45089932-45089932
26	subset of 15 genes: KDM6A , MAOA , NDP , RP2 , ZNF674	NC_000023.10:g.(?_43479884)_(46741003_?)del	deletion	Likely pathogenic	183366		X:43479884-46741003
27	KDM6A	NM_021140.3(KDM6A):c.1425+1G>T	SNV	Likely pathogenic	654686		X:44920665-44920665	X:45061420-45061420
28	KDM6A	NM_021140.3(KDM6A):c.3144+1G>A	SNV	Likely pathogenic	663689		X:44938597-44938597	X:45079352-45079352
29	KDM6A	NM_021140.3(KDM6A):c.4161T>A (p.Tyr1387Ter)	SNV	Likely pathogenic	689653		X:44969479-44969479	X:45110234-45110234
30	KDM6A	NM_001291415.2(KDM6A):c.4101dup (p.Glu1368fs)	duplication	Likely pathogenic	620000	rs1569542167	X:44966717-44966718	X:45107472-45107473
31	KDM6A	NM_021140.3(KDM6A):c.3769G>T (p.Glu1257Ter)	SNV	Likely pathogenic	559936	rs1556357274	X:44950000-44950000	X:45090755-45090755
32	KDM6A	NM_021140.3(KDM6A):c.2938+2T>C	SNV	Likely pathogenic	582366	rs1569537333	X:44937752-44937752	X:45078507-45078507
33	KDM6A	NM_021140.3(KDM6A):c.3598C>T (p.Leu1200Phe)	SNV	Likely pathogenic	397533	rs1060499665	X:44949037-44949037	X:45089792-45089792
34	KDM6A	NM_021140.3(KDM6A):c.250A>G (p.Ile84Val)	SNV	Conflicting interpretations of pathogenicity	488374	rs1373790479	X:44820553-44820553	X:44961308-44961308
35	KDM6A	NM_021140.3(KDM6A):c.2473A>G (p.Thr825Ala)	SNV	Uncertain significance	640293		X:44929373-44929373	X:45070128-45070128
36	KDM6A	NM_021140.3(KDM6A):c.3457T>C (p.Cys1153Arg)	SNV	Uncertain significance	658661		X:44945133-44945133	X:45085888-45085888
37	KDM6A	NM_021140.3(KDM6A):c.3763C>T (p.Arg1255Trp)	SNV	Uncertain significance	565844	rs1450363794	X:44949994-44949994	X:45090749-45090749
38	KDM6A	NM_021140.3(KDM6A):c.563A>G (p.Lys188Arg)	SNV	Uncertain significance	561041	rs1569521751	X:44879974-44879974	X:45020729-45020729
39	KDM6A	NM_021140.3(KDM6A):c.3458G>A (p.Cys1153Tyr)	SNV	Uncertain significance	545087	rs1556350571	X:44945134-44945134	X:45085889-45085889
40	KDM6A	NM_001291415.2(KDM6A):c.3301G>A (p.Glu1101Lys)	SNV	Uncertain significance	870634		X:44941821-44941821	X:45082576-45082576
41	KDM6A	NM_021140.3(KDM6A):c.4052G>A (p.Arg1351Gln)	SNV	Uncertain significance	158691	rs370765411	X:44969370-44969370	X:45110125-45110125
42	KDM6A	NM_001291415.2(KDM6A):c.2970A>G (p.Pro990=)	SNV	Likely benign	772602		X:44936053-44936053	X:45076808-45076808
43	KDM6A	NM_001291415.2(KDM6A):c.4254C>T (p.Ser1418=)	SNV	Likely benign	778791		X:44969416-44969416	X:45110171-45110171
44	KDM6A	NM_001291415.2(KDM6A):c.1874C>T (p.Ser625Phe)	SNV	Likely benign	811049		X:44922857-44922857	X:45063612-45063612
45	KDM6A	NM_001291415.2(KDM6A):c.4255G>A (p.Gly1419Arg)	SNV	Likely benign	811686		X:44969417-44969417	X:45110172-45110172
46	KDM6A	NM_021140.3(KDM6A):c.2177C>T (p.Thr726Met)	SNV	Benign/Likely benign	379452	rs2230018	X:44929077-44929077	X:45069832-45069832
47	KDM6A	NM_021140.3(KDM6A):c.1751C>T (p.Thr584Met)	SNV	Benign/Likely benign	284402	rs141353229	X:44922890-44922890	X:45063645-45063645
48	KDM6A	NM_021140.3(KDM6A):c.1843C>G (p.Leu615Val)	SNV	Benign/Likely benign	134596	rs112725812	X:44922982-44922982	X:45063737-45063737
49	KDM6A	NM_021140.3(KDM6A):c.48_50dup	short repeat	Benign	193446	rs797044622	X:44732836-44732837	X:44873590-44873591
50	KDM6A	NM_021140.3(KDM6A):c.1527+3G>A	SNV	Benign	261406	rs61751429	X:44921996-44921996	X:45062751-45062751

Sources

Expression for Kabuki Syndrome 2

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

Sources

Pathways for Kabuki Syndrome 2

Sources

GO Terms for Kabuki Syndrome 2

Sources

Sources for Kabuki Syndrome 2

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⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

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⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ 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