KABUK1
MCID: KBK002
MIFTS: 67

Kabuki Syndrome 1 (KABUK1)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Kabuki Syndrome 1

MalaCards integrated aliases for Kabuki Syndrome 1:

Name: Kabuki Syndrome 1 56 73 29 13 6
Kabuki Syndrome 56 12 74 24 52 25 58 73 36 29 6 43 15
Niikawa-Kuroki Syndrome 56 12 24 52 25 58 73
Kabuki Make-Up Syndrome 56 24 25 58 73
Kms 56 12 52 25 73
Kabuki Make Up Syndrome 12 52
Kabuk1 56 73
Kabuki Make-Up Syndrome; Kms 56
Kabuki Syndrome, Type 1 39
Kabuki Makeup Syndrome 25
Nks 52

Characteristics:

Orphanet epidemiological data:

58
kabuki syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
majority of cases are sporadic
increased susceptibility to infections


HPO:

31
kabuki syndrome 1:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Penetrance for pathogenic variants in kmt2d appears to be complete; not enough information is available to make any conclusions regarding penetrance for those with pathogenic variants in kdm6a. variable expressivity may lead to underascertainment of mildly affected individuals.

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Kabuki Syndrome 1

Genetics Home Reference : 25 Kabuki syndrome is a disorder that affects many parts of the body. It is characterized by distinctive facial features including arched eyebrows; long eyelashes; long openings of the eyelids (long palpebral fissures) with the lower lids turned out (everted) at the outside edges; a flat, broadened tip of the nose; and large protruding earlobes. The name of this disorder comes from the resemblance of its characteristic facial appearance to stage makeup used in traditional Japanese Kabuki theater. People with Kabuki syndrome have mild to severe developmental delay and intellectual disability. Affected individuals may also have seizures, an unusually small head size (microcephaly), or weak muscle tone (hypotonia). Some have eye problems such as rapid, involuntary eye movements (nystagmus) or eyes that do not look in the same direction (strabismus). Other characteristic features of Kabuki syndrome include short stature and skeletal abnormalities such as abnormal side-to-side curvature of the spine (scoliosis), short fifth (pinky) fingers, or problems with the hip and knee joints. The roof of the mouth may have an abnormal opening (cleft palate) or be high and arched, and dental problems are common in affected individuals. People with Kabuki syndrome may also have fingerprints with unusual features and fleshy pads at the tips of the fingers. These prominent finger pads are called fetal finger pads because they normally occur in human fetuses; in most people they disappear before birth. A wide variety of other health problems occur in some people with Kabuki syndrome. Among the most commonly reported are heart abnormalities, frequent ear infections (otitis media), hearing loss, and early puberty.

MalaCards based summary : Kabuki Syndrome 1, also known as kabuki syndrome, is related to charge syndrome and leukemia, acute myeloid. An important gene associated with Kabuki Syndrome 1 is KMT2D (Lysine Methyltransferase 2D), and among its related pathways/superpathways are Lysine degradation and Chromatin organization. The drugs Dopamine and Risperidone have been mentioned in the context of this disorder. Affiliated tissues include eye, heart and kidney, and related phenotypes are macrotia and abnormal dermatoglyphics

Disease Ontology : 12 A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects.

NIH Rare Diseases : 52 Kabuki syndrome is a rare disorder that affects multiple parts of the body. It is present from birth. Specific symptoms and severity can vary. Features often include a characteristic facial appearance; skeletal abnormalities; short stature ; heart defects; and intellectual disability . Other signs and symptoms may include seizures , microcephaly , weak muscle tone (hypotonia ), eye problems, cleft palate , and dental problems. A variety of other health problems may also occur. Kabuki syndrome is most often caused by a mutation in the KMT2D gene , and inherited in an autosomal dominant manner. Some cases are due to a mutation in the KDM6A gene and are inherited in an X-linked dominant manner. Treatment is focused on the specific signs and symptoms in each affected person.

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). (147920)

KEGG : 36 Kabuki syndrome, or Kabuki make-up syndrome, is a multiple malformation/mental retardation syndrome that is inherited in an autosomal dominant manner. Patients often have long palpebral fissures with eversion of the lateral one-third of the lower eyelids and arched and broad eyebrows that resemble the make-up of actors in Kabuki, the traditional Japanese play. Other features include postnatal growth delay during the first year of life, persistent fetal fingertip pads, congenital heart defects, and skeletal anomalies such as the absence of digital triradius c and/or d.

UniProtKB/Swiss-Prot : 73 Kabuki syndrome 1: 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.

Wikipedia : 74 Kabuki syndrome (also previously known as Kabuki-makeup syndrome (KMS) or Niikawa-Kuroki syndrome) is a... more...

GeneReviews: NBK62111

Related Diseases for Kabuki Syndrome 1

Diseases in the Kabuki Syndrome 1 family:

Kabuki Syndrome 2

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

(showing 1234, show less)
# Related Disease Score Top Affiliating Genes
1 charge syndrome 31.3 KMT2D KMT2B KDM6A
2 leukemia, acute myeloid 30.9 KMT2D KMT2C KMT2A KDM6A KDM4C H2AC18
3 sotos syndrome 1 30.7 KMT2D KMT2B KDM6A H2AC18 DNMT3B
4 isolated growth hormone deficiency type iii 30.6 KMT2D KMT2B
5 immunodeficiency-centromeric instability-facial anomalies syndrome 30.4 ZBTB24 H2AC18 DNMT3B
6 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative 12.8
7 aggressive nk-cell leukemia 12.7
8 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive 12.7
9 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency 12.5
10 chronic nk-cell lymphocytosis 12.4
11 nk-cell enteropathy 12.3
12 lethal midline granuloma 12.2
13 severe combined immunodeficiency, x-linked 12.2
14 immunodeficiency 19 12.1
15 blastic plasmacytoid dendritic cell 12.1
16 immunodeficiency 20 12.0
17 immunodeficiency 21 12.0
18 immunodeficiency 55 12.0
19 severe combined immunodeficiency with sensitivity to ionizing radiation 11.8
20 peripheral t-cell lymphoma 11.8
21 immunodeficiency 17 11.8
22 chronic lymphoproliferative disorder of natural killer cells 11.8
23 graft-versus-host disease 11.6
24 au-kline syndrome 11.5
25 cleft palate, psychomotor retardation, and distinctive facial features 11.5
26 immunodeficiency 49 11.5
27 polymorphic reticulosis 11.4
28 interleukin-7 receptor alpha deficiency 11.4
29 hemangioma-thrombocytopenia syndrome 11.4
30 hypogonadotropic hypogonadism 1 with or without anosmia 11.4
31 griscelli syndrome 11.4
32 immunodeficiency 32b 11.4
33 hemophagocytic lymphohistiocytosis, familial, 2 11.4
34 immunodeficiency 63 with lymphoproliferation and autoimmunity 11.4
35 jak3-deficient severe combined immunodeficiency 11.4
36 immunodeficiency 64 11.3
37 kabuki syndrome 2 11.3
38 radiation sensitivity of natural killer activity 11.3
39 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 11.3
40 adenosine deaminase deficiency 11.3
41 codas syndrome 11.2
42 hardikar syndrome 11.2
43 reticular dysgenesis 11.2
44 immunodeficiency 56 11.2
45 immunodeficiency 18 11.2
46 immunodeficiency 40 11.2
47 hyper-ige recurrent infection syndrome 3, autosomal recessive 11.2
48 cytogenetically normal acute myeloid leukemia 11.1
49 t-cell immunodeficiency with thymic aplasia 11.1
50 lymphoproliferative syndrome, x-linked, 2 11.1
51 immunodeficiency 33 11.1
52 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 11.1
53 hemophagocytic lymphohistiocytosis, familial, 4 11.1
54 caspase 8 deficiency 11.1
55 immunodeficiency 54 11.1
56 immunodeficiency 10 11.1
57 familial cold autoinflammatory syndrome 3 11.1
58 immunodeficiency 30 11.1
59 combined t cell and b cell immunodeficiency 11.1
60 neurotrophic keratopathy 11.1
61 t-b- severe combined immunodeficiency 11.1
62 anaplastic large cell lymphoma 10.9
63 angioimmunoblastic t-cell lymphoma 10.9
64 mycosis fungoides 10.9
65 enteropathy-associated t-cell lymphoma 10.8
66 t-cell lymphoma, subcutaneous panniculitis-like 10.8
67 hepatosplenic t-cell lymphoma 10.8
68 hydroa vacciniforme-like lymphoma 10.7
69 alk-negative anaplastic large cell lymphoma 10.7
70 severe combined immunodeficiency 10.7
71 sezary's disease 10.7
72 alk-positive anaplastic large cell lymphoma 10.7
73 chromosome 16p13.3 deletion syndrome, proximal 10.7 PAGR1 KMT2D KDM6A KDM4C H2AC18
74 weaver syndrome 10.7 KMT2D KMT2B KDM6A KDM4C H2AC18
75 cavernous sinus meningioma 10.7 KMT2D DHFR
76 kleefstra syndrome 1 10.7 PAGR1 KDM4C H2AC18
77 bladder urothelial carcinoma 10.7 KMT2D KMT2C KMT2B KDM6A DNMT3B
78 nut midline carcinoma 10.7 KMT2C KDM4C H2AC18
79 kleefstra syndrome 10.7 PAGR1 KMT2D KMT2C KMT2B KDM6A KDM4C
80 hyperoxaluria, primary, type i 10.7 KDM4C H2AC18 DNMT3B
81 cutaneous t cell lymphoma 10.7
82 autosomal dominant non-syndromic intellectual disability 10.7 KMT2D KMT2A KDM6A H2AC18
83 immunodeficiency-centromeric instability-facial anomalies syndrome 2 10.7 ZBTB24 DNMT3B
84 kleefstra syndrome 2 10.7 KMT2C KMT2B
85 alacrima, achalasia, and mental retardation syndrome 10.6
86 retinal cancer 10.6 PAGR1 KDM4C H2AC18
87 meier-gorlin syndrome 1 10.6 RAP1A KDM4C H2AC18
88 primary cutaneous anaplastic large cell lymphoma 10.6
89 primary hyperoxaluria 10.6 KDM4C H2AC18 DNMT3B
90 lymphomatoid papulosis 10.6
91 multiple endocrine neoplasia, type i 10.6 PAGR1 KMT2D KMT2B
92 cervical non-keratinizing squamous cell carcinoma 10.5 RAP1B RAP1A
93 myeloma, multiple 10.5
94 lymphoma, non-hodgkin, familial 10.5
95 hypotonia 10.5
96 b-cell lymphoma 10.5
97 cleft palate, isolated 10.5
98 eye degenerative disease 10.5 KDM4C H2AC18 CFH
99 cervical keratinizing squamous cell carcinoma 10.5 RAP1B RAP1A
100 lymphoproliferative syndrome 10.4
101 hepatocellular carcinoma 10.4
102 vaccinia 10.4
103 hemophagocytic lymphohistiocytosis 10.4
104 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 10.4 ZBTB24 DNMT3B
105 lymphocytic choriomeningitis 10.4
106 pre-eclampsia 10.4
107 agammaglobulinemia 10.3
108 acute graft versus host disease 10.3
109 allergic hypersensitivity disease 10.3
110 melanoma 10.3
111 diffuse large b-cell lymphoma 10.3
112 ovarian cancer 10.3
113 herpes simplex 10.3
114 glioblastoma multiforme 10.3
115 fibrosarcoma 10.3
116 progressive familial heart block, type ia 10.3
117 developmental dysplasia of the hip 1 10.3
118 c syndrome 10.3
119 astigmatism 10.3
120 progressive familial heart block, type ib 10.3
121 inguinal hernia 10.3
122 right bundle branch block 10.3
123 perilymphatic fistula 10.3
124 schrander-stumpel theunissen hulsmans syndrome 10.3
125 single ventricular heart 10.3
126 central nervous system malformation 10.3
127 erythroleukemia, familial 10.3
128 pancytopenia 10.3
129 panniculitis 10.3
130 colorectal cancer 10.3
131 endometriosis 10.3
132 lymphopenia 10.3
133 influenza 10.3
134 allergic encephalomyelitis 10.3
135 purpura 10.3
136 cleft lip 10.3
137 human immunodeficiency virus infectious disease 10.3
138 ptosis 10.2
139 homologous wasting disease 10.2
140 hydroa vacciniforme 10.2
141 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
142 hemolytic anemia 10.2
143 hypoplastic left heart syndrome 10.2
144 cleft lip/palate 10.2
145 lung cancer 10.2
146 wiskott-aldrich syndrome 10.2
147 eclampsia 10.2
148 specific developmental disorder 10.2 PAGR1 KDM4C H2AC18
149 osteogenic sarcoma 10.2
150 stomatitis 10.2
151 pfeiffer syndrome 10.2
152 melanoma, cutaneous malignant 10 10.2
153 chlamydia 10.2
154 viral infectious disease 10.2
155 strabismus 10.2
156 brachydactyly 10.2
157 microcephaly 10.2
158 common variable immunodeficiency 10.2
159 gonadal dysgenesis 10.2
160 turner syndrome 10.2
161 mechanical strabismus 10.2
162 diabetes mellitus, type i 10.2
163 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.2
164 bladder cancer 10.2
165 nasopharyngeal carcinoma 10.2
166 toxic shock syndrome 10.2
167 hepatitis b 10.2
168 rhinitis 10.2
169 infertility 10.2
170 chronic active epstein-barr virus infection 10.2
171 lymphoblastic lymphoma 10.2
172 large granular lymphocyte leukemia 10.2
173 squamous cell carcinoma 10.1
174 viral hepatitis 10.1
175 coarctation of aorta 10.1
176 coloboma of macula 10.1
177 thrombocytopenic purpura, autoimmune 10.1
178 hyperinsulinemic hypoglycemia 10.1
179 heart septal defect 10.1
180 growth hormone deficiency 10.1
181 alcohol dependence 10.1
182 autoimmune disease 10.1
183 neutrophil migration 10.1
184 ossification of the posterior longitudinal ligament of spine 10.1
185 pertussis 10.1
186 pulmonary tuberculosis 10.1
187 dengue virus 10.1
188 breast adenocarcinoma 10.1
189 cellulitis 10.1
190 glioma 10.1
191 glial tumor 10.1
192 granulomatous slack skin disease 10.1
193 mycosis fungoides and variants 10.1
194 primary cutaneous gamma/delta-positive t-cell lymphoma 10.1
195 primary cutaneous cd4+ small/medium-sized pleomorphic t-cell lymphoma 10.1
196 localized pagetoid reticulosis 10.1
197 folliculotropic mycosis fungoides 10.1
198 primary cutaneous t-cell lymphoma 10.1
199 primary cutaneous cd30+ t-cell lymphoproliferative disease 10.1
200 primary cutaneous peripheral t-cell lymphoma not otherwise specified 10.1
201 dermatitis, atopic 10.1
202 follicular lymphoma 10.1
203 benign mesothelioma 10.1
204 precursor t-cell acute lymphoblastic leukemia 10.1
205 branchiootic syndrome 1 10.1
206 monocular esotropia 10.1
207 microphthalmia 10.1
208 synostosis 10.1
209 biliary atresia 10.1
210 ventricular septal defect 10.1
211 esotropia 10.1
212 multiple sclerosis 10.1
213 kaposi sarcoma 10.1
214 diphtheria 10.1
215 hepatitis c virus 10.1
216 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
217 visual epilepsy 10.1
218 haemophilus influenzae 10.1
219 seizure disorder 10.1
220 prostate cancer 10.1
221 lymphoproliferative syndrome, x-linked, 1 10.1
222 cervical cancer 10.1
223 t-cell large granular lymphocyte leukemia 10.1
224 mucositis 10.1
225 adenocarcinoma 10.1
226 acquired immunodeficiency syndrome 10.1
227 chickenpox 10.1
228 small cell cancer of the lung 10.0
229 suppressor of tumorigenicity 3 10.0
230 ataxia-telangiectasia 10.0
231 hemophagocytic lymphohistiocytosis, familial, 1 10.0
232 ataxia and polyneuropathy, adult-onset 10.0
233 colitis 10.0
234 pleurisy 10.0
235 kidney cancer 10.0
236 hypereosinophilic syndrome 10.0
237 chronic graft versus host disease 10.0
238 hashimoto thyroiditis 10.0
239 anemia, autoimmune hemolytic 10.0
240 autism 10.0
241 dandy-walker syndrome 10.0
242 immune deficiency disease 10.0
243 choanal atresia, posterior 10.0
244 autism spectrum disorder 10.0
245 scoliosis 10.0
246 familial isolated trichomegaly 10.0
247 sclerosing cholangitis 10.0
248 atrial heart septal defect 10.0
249 learning disability 10.0
250 cholangitis 10.0
251 ring chromosome 10.0
252 amyotrophic lateral sclerosis 1 10.0
253 leukemia, chronic lymphocytic 10.0
254 systemic lupus erythematosus 10.0
255 vitiligo-associated multiple autoimmune disease susceptibility 6 10.0
256 biotinidase deficiency 10.0
257 vitiligo-associated multiple autoimmune disease susceptibility 1 10.0
258 kala-azar 1 10.0
259 graves' disease 10.0
260 hypothyroidism 10.0
261 cholera 10.0
262 optic nerve disease 10.0
263 lateral sclerosis 10.0
264 chronic granulomatous disease 10.0
265 liver disease 10.0
266 thyroiditis 10.0
267 crohn's disease 10.0
268 leishmaniasis 10.0
269 alopecia areata 10.0
270 alopecia 10.0
271 spastic paraparesis 10.0
272 aplastic anemia 10.0
273 aspergillosis 10.0
274 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.0
275 deficiency anemia 10.0
276 paroxysmal nocturnal hemoglobinuria 10.0
277 colon adenocarcinoma 10.0
278 dermatitis 10.0
279 newcastle disease 10.0
280 t-cell adult acute lymphocytic leukemia 10.0
281 hemoglobinuria 10.0
282 chronic fatigue syndrome 10.0
283 posttransplant acute limbic encephalitis 10.0
284 thyroid carcinoma 10.0
285 macroglossia 10.0
286 palatopharyngeal incompetence 10.0
287 teeth, supernumerary 10.0
288 renal hypodysplasia/aplasia 1 10.0
289 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.0
290 adenoid hypertrophy 10.0
291 ovarian disease 10.0
292 mitral valve insufficiency 10.0
293 telangiectasis 10.0
294 cutis laxa 10.0
295 tricuspid valve insufficiency 10.0
296 pituitary gland disease 10.0
297 retinal telangiectasia 10.0
298 mondini dysplasia 10.0
299 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 10.0
300 mesothelioma, malignant 10.0
301 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.0
302 allergic rhinitis 10.0
303 mycobacterium tuberculosis 1 10.0
304 mantle cell lymphoma 10.0
305 nasal cavity lymphoma 10.0
306 candidiasis 10.0
307 bronchiolitis 10.0
308 ischemia 10.0
309 pancreatic ductal adenocarcinoma 10.0
310 mast cell neoplasm 10.0
311 extracutaneous mastocytoma 10.0
312 monoclonal gammopathy of uncertain significance 10.0
313 placenta disease 10.0
314 toxoplasmosis 10.0
315 oral cancer 10.0
316 post-transplant lymphoproliferative disease 10.0
317 depression 10.0
318 spondyloarthropathy 1 10.0
319 myelofibrosis 10.0
320 thymoma, familial 10.0
321 squamous cell carcinoma, head and neck 10.0
322 asthma 10.0
323 cd4/cd8 t-cell ratio 10.0
324 pulmonary disease, chronic obstructive 10.0
325 chikungunya 10.0
326 invasive aspergillosis 10.0
327 listeriosis 10.0
328 inflammatory spondylopathy 10.0
329 mental depression 10.0
330 rhabdomyosarcoma 10.0
331 thymoma 10.0
332 plasmacytoma 10.0
333 pustulosis of palm and sole 10.0
334 spondylitis 10.0
335 periodontitis 10.0
336 psoriasis 10.0
337 yellow fever 10.0
338 irritable bowel syndrome 10.0
339 muscular dystrophy 10.0
340 anorectal anomalies 9.9
341 breasts and/or nipples, aplasia or hypoplasia of, 1 9.9
342 beckwith-wiedemann syndrome 9.9
343 epicanthus 9.9
344 pilomatrixoma 9.9
345 diaphragmatic hernia, congenital 9.9
346 hypertelorism 9.9
347 pituitary hormone deficiency, combined, 2 9.9
348 patent ductus arteriosus 1 9.9
349 hyperinsulinemic hypoglycemia, familial, 5 9.9
350 hyperinsulinemic hypoglycemia, familial, 4 9.9
351 immunoglobulin alpha deficiency 9.9
352 latex allergy 9.9
353 sensorineural hearing loss 9.9
354 hydrocephalus 9.9
355 cholestasis 9.9
356 root resorption 9.9
357 ectropion 9.9
358 thrombocytopenia 9.9
359 mitral valve stenosis 9.9
360 focal epilepsy 9.9
361 craniosynostosis 9.9
362 bilirubin metabolic disorder 9.9
363 interstitial lung disease 9.9
364 lung disease 9.9
365 diabetes insipidus 9.9
366 hypermobile ehlers-danlos syndrome 9.9
367 irf6-related disorders 9.9
368 chromosomal triplication 9.9
369 dwarfism 9.9
370 precocious puberty 9.9
371 infantile hypotonia 9.9
372 microtia 9.9
373 blood group--kell system 9.9
374 diabetes mellitus, noninsulin-dependent 9.9
375 scleroderma, familial progressive 9.9
376 neural tube defects 9.9
377 cystic fibrosis 9.9
378 leprosy 3 9.9
379 myasthenia gravis 9.9
380 proteasome-associated autoinflammatory syndrome 1 9.9
381 pancreatic cancer 9.9
382 mcleod syndrome 9.9
383 lung cancer susceptibility 3 9.9
384 hyperlipoproteinemia, type iii 9.9
385 helix syndrome 9.9
386 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 9.9
387 lipoprotein quantitative trait locus 9.9
388 cardiac arrest 9.9
389 heart disease 9.9
390 goiter 9.9
391 neutropenia 9.9
392 dysentery 9.9
393 guillain-barre syndrome 9.9
394 dilated cardiomyopathy 9.9
395 uveitis 9.9
396 typhoid fever 9.9
397 alcoholic liver cirrhosis 9.9
398 plasmodium falciparum malaria 9.9
399 alcohol use disorder 9.9
400 hepatitis c 9.9
401 motor neuron disease 9.9
402 lung squamous cell carcinoma 9.9
403 systemic scleroderma 9.9
404 hyperglycemia 9.9
405 large cell carcinoma 9.9
406 lung large cell carcinoma 9.9
407 liver cirrhosis 9.9
408 peritonitis 9.9
409 osteoarthritis 9.9
410 multiple carboxylase deficiency 9.9
411 myeloid leukemia 9.9
412 neuropathy 9.9
413 lupus erythematosus 9.9
414 meningitis 9.9
415 hypoglycemia 9.9
416 48,xyyy 9.9
417 dentinogenesis imperfecta type 2 9.9
418 hansen's disease 9.9
419 hypoxia 9.9
420 audiogenic seizures 9.9
421 myelopathy, htlv-1-associated 9.9
422 chediak-higashi syndrome 9.9
423 gastrointestinal stromal tumor 9.9
424 endometrial cancer 9.9
425 major depressive disorder 9.9
426 ewing sarcoma 9.9
427 gastric cancer 9.9
428 childhood acute lymphocytic leukemia 9.9
429 thalassemia 9.9
430 asbestosis 9.9
431 chagas disease 9.9
432 primary biliary cirrhosis 9.9
433 b cell deficiency 9.9
434 hepatitis 9.9
435 relapsing-remitting multiple sclerosis 9.9
436 tropical spastic paraparesis 9.9
437 histiocytosis 9.9
438 t-cell acute lymphoblastic leukemia 9.9
439 juvenile rheumatoid arthritis 9.9
440 allergic asthma 9.9
441 encephalitis 9.9
442 htlv-1 associated myelopathy/tropical spastic paraparesis 9.9
443 dysphagia 9.9
444 t-cell non-hodgkin lymphoma 9.9
445 asbestos intoxication 9.9
446 ige responsiveness, atopic 9.9
447 medulloblastoma 9.9
448 myositis 9.9
449 retinoblastoma 9.9
450 agammaglobulinemia 1, autosomal recessive 9.9
451 granulomatosis with polyangiitis 9.9
452 cholangiocarcinoma 9.9
453 exanthem 9.9
454 variola major 9.9
455 metabolic acidosis 9.9
456 colorectal adenocarcinoma 9.9
457 mastitis 9.9
458 t cell deficiency 9.9
459 disseminated intravascular coagulation 9.9
460 nephrotic syndrome 9.9
461 polyneuropathy 9.9
462 autoimmune hepatitis 9.9
463 pharyngitis 9.9
464 transitional cell carcinoma 9.9
465 bronchiolitis obliterans 9.9
466 teratoma 9.9
467 skin carcinoma 9.9
468 gastritis 9.9
469 mouth disease 9.9
470 clear cell renal cell carcinoma 9.9
471 familial retinoblastoma 9.9
472 intrahepatic cholangiocarcinoma 9.9
473 bronchitis 9.9
474 lung lymphoma 9.9
475 myocarditis 9.9
476 extrinsic allergic alveolitis 9.9
477 genital herpes 9.9
478 in situ carcinoma 9.9
479 smallpox 9.9
480 skin melanoma 9.9
481 granulocytopenia 9.9
482 human t-cell leukemia virus type 1 9.9
483 lymphosarcoma 9.9
484 arteries, anomalies of 9.8
485 b-cell growth factor 9.8
486 melanoma, uveal 9.8
487 papillomatosis, confluent and reticulated 9.8
488 polykaryocytosis inducer 9.8
489 schistosoma mansoni infection, susceptibility/ 9.8
490 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 9.8
491 polycythemia vera 9.8
492 body mass index quantitative trait locus 11 9.8
493 aging 9.8
494 body mass index quantitative trait locus 9 9.8
495 body mass index quantitative trait locus 8 9.8
496 body mass index quantitative trait locus 4 9.8
497 body mass index quantitative trait locus 10 9.8
498 body mass index quantitative trait locus 7 9.8
499 body mass index quantitative trait locus 12 9.8
500 body mass index quantitative trait locus 14 9.8
501 human herpesvirus 8 9.8
502 body mass index quantitative trait locus 18 9.8
503 pachyonychia congenita 3 9.8
504 autoimmune lymphoproliferative syndrome, type v 9.8
505 body mass index quantitative trait locus 19 9.8
506 gastrointestinal ulceration, recurrent, with dysfunctional platelets 9.8
507 body mass index quantitative trait locus 20 9.8
508 juvenile arthritis 9.8
509 bacterial sepsis 9.8
510 oculocutaneous albinism 9.8
511 oral squamous cell carcinoma 9.8
512 non-alcoholic fatty liver disease 9.8
513 hyper ige syndrome 9.8
514 non-alcoholic steatohepatitis 9.8
515 covid-19 9.8
516 dermatomyositis 9.8
517 prolymphocytic leukemia 9.8
518 nasopharyngitis 9.8
519 filariasis 9.8
520 orbital cellulitis 9.8
521 brain cancer 9.8
522 squamous cell papilloma 9.8
523 schistosomiasis 9.8
524 aggressive periodontitis 9.8
525 lymphadenitis 9.8
526 vascular disease 9.8
527 constipation 9.8
528 papilloma 9.8
529 parasitic protozoa infectious disease 9.8
530 embryonal carcinoma 9.8
531 fibrosarcoma of bone 9.8
532 plague 9.8
533 choriocarcinoma 9.8
534 thyroid gland follicular carcinoma 9.8
535 chronic inflammatory demyelinating polyradiculoneuropathy 9.8
536 demyelinating polyneuropathy 9.8
537 peripheral nervous system disease 9.8
538 end stage renal disease 9.8
539 polycythemia 9.8
540 bacterial pneumonia 9.8
541 cervix uteri carcinoma in situ 9.8
542 lichen planus 9.8
543 exophthalmos 9.8
544 iridocyclitis 9.8
545 fatty liver disease 9.8
546 plasma cell leukemia 9.8
547 albinism 9.8
548 candida glabrata 9.8
549 cervical intraepithelial neoplasia 9.8
550 chromosome 6q deletion 9.8
551 dendritic cell tumor 9.8
552 t-cell prolymphocytic leukemia 9.8
553 headache 9.8
554 paresthesia 9.8
555 primary pulmonary lymphoma 9.8
556 non-severe combined immunodeficiency 9.8
557 acanthosis nigricans 9.8
558 atherosclerosis susceptibility 9.8
559 gastroesophageal reflux 9.8
560 aortic valve disease 1 9.8
561 burkitt lymphoma 9.8
562 van der woude syndrome 1 9.8
563 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 9.8
564 fibrosis of extraocular muscles, congenital, 1 9.8
565 kbg syndrome 9.8
566 pilonidal sinus 9.8
567 retinal detachment 9.8
568 chromosome 2q35 duplication syndrome 9.8
569 tetralogy of fallot 9.8
570 down syndrome 9.8
571 wilms tumor 1 9.8
572 anus, imperforate 9.8
573 arachnoid cysts, intracranial 9.8
574 celiac disease 1 9.8
575 lymphoma, hodgkin, classic 9.8
576 lymphoid interstitial pneumonia 9.8
577 insulin-like growth factor i 9.8
578 alopecia, congenital 9.8
579 tooth size 9.8
580 fryns microphthalmia syndrome 9.8
581 wilms tumor 5 9.8
582 myocardial infarction 9.8
583 emanuel syndrome 9.8
584 mandibulofacial dysostosis, guion-almeida type 9.8
585 intraocular pressure quantitative trait locus 9.8
586 diabetes mellitus, ketosis-prone 9.8
587 cholangitis, primary sclerosing 9.8
588 nail disorder, nonsyndromic congenital, 9 9.8
589 ventricular septal defect 3 9.8
590 aortic valve disease 2 9.8
591 chorea, childhood-onset, with psychomotor retardation 9.8
592 joint laxity, short stature, and myopia 9.8
593 polymicrogyria with or without vascular-type ehlers-danlos syndrome 9.8
594 west syndrome 9.8
595 pulmonary hypertension 9.8
596 acute diarrhea 9.8
597 congenital hypothyroidism 9.8
598 visceral heterotaxy 9.8
599 tooth agenesis 9.8
600 autosomal recessive disease 9.8
601 lymphoma 9.8
602 generalized epilepsy with febrile seizures plus 9.8
603 crohn's colitis 9.8
604 congenital ptosis 9.8
605 familial hypocalciuric hypercalcemia 9.8
606 isolated growth hormone deficiency 9.8
607 hereditary lymphedema i 9.8
608 split hand-foot malformation 9.8
609 bacterial infectious disease 9.8
610 hydronephrosis 9.8
611 respiratory failure 9.8
612 hypoparathyroidism 9.8
613 tetanus 9.8
614 pyelonephritis 9.8
615 blind hypotensive eye 9.8
616 myopia 9.8
617 clubfoot 9.8
618 acute leukemia 9.8
619 corneal staphyloma 9.8
620 choreatic disease 9.8
621 lagophthalmos 9.8
622 amenorrhea 9.8
623 congenital hypogammaglobulinemia 9.8
624 thrombocytopenia due to platelet alloimmunization 9.8
625 status epilepticus 9.8
626 dysostosis 9.8
627 dental caries 9.8
628 transient cerebral ischemia 9.8
629 neonatal jaundice 9.8
630 membranoproliferative glomerulonephritis 9.8
631 antiphospholipid syndrome 9.8
632 lipomatosis 9.8
633 hypertrichosis 9.8
634 holoprosencephaly 9.8
635 benign ependymoma 9.8
636 ovarian cyst 9.8
637 dystonia 9.8
638 cellular ependymoma 9.8
639 tanycytic ependymoma 9.8
640 pneumonia 9.8
641 conjunctivitis 9.8
642 adenoma 9.8
643 hepatoblastoma 9.8
644 carotid artery occlusion 9.8
645 polyhydramnios 9.8
646 vasculitis 9.8
647 hypopituitarism 9.8
648 acute myocardial infarction 9.8
649 hypersensitivity vasculitis 9.8
650 radioulnar synostosis 9.8
651 grin1-related neurodevelopmental disorder 9.8
652 polymicrogyria 9.8
653 chromosome 10p duplication 9.8
654 cleft tongue 9.8
655 congenital hepatic fibrosis 9.8
656 congenital hydrocephalus 9.8
657 congenital mitral stenosis 9.8
658 fibromatosis 9.8
659 leukoplakia 9.8
660 primary agammaglobulinemia 9.8
661 retinochoroidal coloboma 9.8
662 slipped capital femoral epiphysis 9.8
663 splenomegaly 9.8
664 genetic epilepsy with febrile seizures plus 9.8
665 cerebral atrophy 9.8
666 febrile seizures 9.8
667 pituitary tumors 9.8
668 tremor 9.8
669 lower lip fistula 9.8
670 liver adenomatosis 9.8
671 rare tumor 9.8
672 overgrowth syndrome 9.8
673 lobar holoprosencephaly 9.8
674 alobar holoprosencephaly 9.8
675 shone complex 9.8
676 colobomatous microphthalmia 9.8
677 breast cancer 9.8
678 cardiac arrhythmia 9.8
679 esophageal cancer 9.8
680 fucosidase regulator 9.8
681 guillain-barre syndrome, familial 9.8
682 hair whorl 9.8
683 renal cell carcinoma, nonpapillary 9.8
684 metaphyseal chondrodysplasia, schmid type 9.8
685 otitis media 9.8
686 parkinson disease, late-onset 9.8
687 thiourea tasting 9.8
688 rheumatoid arthritis 9.8
689 sarcoidosis 1 9.8
690 steatocystoma multiplex 9.8
691 volvulus of midgut 9.8
692 abetalipoproteinemia 9.8
693 alpha-methylacetoacetic aciduria 9.8
694 apparent mineralocorticoid excess 9.8
695 cryptorchidism, unilateral or bilateral 9.8
696 glycogen storage disease ii 9.8
697 hemochromatosis, type 1 9.8
698 hutterite cerebroosteonephrodysplasia syndrome 9.8
699 mitochondrial dna depletion syndrome 9 9.8
700 holocarboxylase synthetase deficiency 9.8
701 neuraminidase deficiency 9.8
702 pyruvate kinase deficiency of red cells 9.8
703 sjogren syndrome 9.8
704 xeroderma pigmentosum, complementation group d 9.8
705 xeroderma pigmentosum, variant type 9.8
706 pyruvate dehydrogenase e1-alpha deficiency 9.8
707 androgen insensitivity, partial 9.8
708 preaxial hallucal polydactyly 9.8
709 huntington disease-like 2 9.8
710 leukemia, chronic myeloid 9.8
711 human immunodeficiency virus type 1 9.8
712 malaria 9.8
713 leukemia, acute lymphoblastic 9.8
714 fatty liver disease, nonalcoholic 1 9.8
715 myelodysplastic syndrome 9.8
716 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 9.8
717 leukemia, acute lymphoblastic 3 9.8
718 familial adenomatous polyposis 9.8
719 multinodular goiter 9.8
720 adult t-cell leukemia 9.8
721 inflammatory bowel disease 9.8
722 biotin deficiency 9.8
723 myelomeningocele 9.8
724 bone resorption disease 9.8
725 haemophilus meningitis 9.8
726 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 2 9.8
727 mumps 9.8
728 suppression amblyopia 9.8
729 amblyopia 9.8
730 meningoencephalitis 9.8
731 charcot-marie-tooth disease 9.8
732 toxic diffuse goiter 9.8
733 meningocele 9.8
734 hypospadias 9.8
735 tooth disease 9.8
736 sarcoma 9.8
737 hemopericardium 9.8
738 infant gynecomastia 9.8
739 onchocerciasis 9.8
740 pericardial effusion 9.8
741 hemosiderosis 9.8
742 leukemia 9.8
743 paracoccidioidomycosis 9.8
744 gynecomastia 9.8
745 paronychia 9.8
746 diarrhea 9.8
747 interstitial cystitis 9.8
748 anus cancer 9.8
749 cystitis 9.8
750 epilepsy 9.8
751 hyperuricemia 9.8
752 hypogonadism 9.8
753 hyperinsulinism 9.8
754 essential thrombocythemia 9.8
755 thrombocytosis 9.8
756 hairy cell leukemia 9.8
757 glomerulonephritis 9.8
758 anuria 9.8
759 iga glomerulonephritis 9.8
760 acute kidney failure 9.8
761 gliosarcoma 9.8
762 glycoproteinosis 9.8
763 mixed connective tissue disease 9.8
764 skin disease 9.8
765 pulmonary fibrosis 9.8
766 lynch syndrome 9.8
767 insulinoma 9.8
768 spindle cell sarcoma 9.8
769 sarcomatoid renal cell carcinoma 9.8
770 kidney disease 9.8
771 retinal disease 9.8
772 congestive heart failure 9.8
773 connective tissue disease 9.8
774 t-cell lymphoblastic leukemia/lymphoma 9.8
775 axonal neuropathy 9.8
776 neuroblastoma 9.8
777 hyperthyroidism 9.8
778 cataract 9.8
779 arthritis 9.8
780 bullous pemphigoid 9.8
781 ulcerative colitis 9.8
782 measles 9.8
783 cutaneous leishmaniasis 9.8
784 visceral leishmaniasis 9.8
785 epiglottitis 9.8
786 47,xyy 9.8
787 cytokine deficiency 9.8
788 leukemia, t-cell, chronic 9.8
789 back pain 9.8
790 cytomegalovirus infection 9.8
791 encephalopathy 9.8
792 myoclonus 9.8
793 rapidly involuting congenital hemangioma 9.8
794 rare hereditary hemochromatosis 9.8
795 acyl-coa dehydrogenase deficiency 9.8
796 alzheimer disease 9.7
797 behcet syndrome 9.7
798 dementia, lewy body 9.7
799 glioma susceptibility 1 9.7
800 hypertriglyceridemia, familial 9.7
801 pulmonary fibrosis, idiopathic 9.7
802 schizophrenia 9.7
803 digeorge syndrome 9.7
804 thyroid cancer, nonmedullary, 1 9.7
805 triiodothyronine receptor auxiliary protein 9.7
806 von hippel-lindau syndrome 9.7
807 chordoma 9.7
808 fanconi anemia, complementation group a 9.7
809 subacute sclerosing panencephalitis 9.7
810 periodontitis, chronic 9.7
811 agammaglobulinemia, x-linked 9.7
812 yemenite deaf-blind hypopigmentation syndrome 9.7
813 griscelli syndrome, type 2 9.7
814 anxiety 9.7
815 west nile virus 9.7
816 major affective disorder 8 9.7
817 major affective disorder 9 9.7
818 acute promyelocytic leukemia 9.7
819 beta-thalassemia 9.7
820 leptin deficiency or dysfunction 9.7
821 leptin receptor deficiency 9.7
822 hyperprolactinemia 9.7
823 autoimmune uveitis 9.7
824 epstein-barr virus hepatitis 9.7
825 sleep apnea 9.7
826 pain agnosia 9.7
827 persistent generalized lymphadenopathy 9.7
828 zika fever 9.7
829 salmonellosis 9.7
830 thyroid gland anaplastic carcinoma 9.7
831 hypopyon 9.7
832 microinvasive gastric cancer 9.7
833 rickets 9.7
834 japanese encephalitis 9.7
835 lepromatous leprosy 9.7
836 depersonalization disorder 9.7
837 prostatic hypertrophy 9.7
838 rabies 9.7
839 gestational diabetes 9.7
840 dengue disease 9.7
841 filarial elephantiasis 9.7
842 testicular lymphoma 9.7
843 nodular goiter 9.7
844 osteopetrosis 9.7
845 adult-onset still's disease 9.7
846 echinococcosis 9.7
847 richter's syndrome 9.7
848 ocular melanoma 9.7
849 coccidiosis 9.7
850 pneumonic tularemia 9.7
851 tularemia 9.7
852 gastroenteritis 9.7
853 hematologic cancer 9.7
854 astrocytoma 9.7
855 malignant glioma 9.7
856 gingivitis 9.7
857 inverted papilloma 9.7
858 demyelinating disease 9.7
859 central nervous system lymphoma 9.7
860 teratocarcinoma 9.7
861 bipolar disorder 9.7
862 mood disorder 9.7
863 granulomatous myositis 9.7
864 breast disease 9.7
865 mastocytosis 9.7
866 gastric adenocarcinoma 9.7
867 pancreatic adenocarcinoma 9.7
868 syphilis 9.7
869 pyoderma 9.7
870 polyradiculoneuropathy 9.7
871 somatoform disorder 9.7
872 poliomyelitis 9.7
873 composite lymphoma 9.7
874 pediatric lymphoma 9.7
875 reactive arthritis 9.7
876 cll/sll 9.7
877 anthrax disease 9.7
878 childhood leukemia 9.7
879 chronic rhinitis 9.7
880 mucormycosis 9.7
881 herpes zoster 9.7
882 pyoderma gangrenosum 9.7
883 chronic monocytic leukemia 9.7
884 rubella 9.7
885 molluscum contagiosum 9.7
886 diabetes mellitus 9.7
887 was-related disorders 9.7
888 amaurosis fugax 9.7
889 anca-associated vasculitis 9.7
890 antisynthetase syndrome 9.7
891 bone marrow necrosis 9.7
892 cluster headache 9.7
893 lymphomatoid granulomatosis 9.7
894 macrophage activation syndrome 9.7
895 marek disease 9.7
896 mycobacterium fortuitum 9.7
897 oral lichen planus 9.7
898 ovarian epithelial cancer 9.7
899 primary bone cancer 9.7
900 spinal cord injury 9.7
901 traumatic brain injury 9.7
902 cerebrofacial arteriovenous metameric syndrome 9.7
903 secondary hemophagocytic lymphohistiocytosis 9.7
904 virus-associated trichodysplasia spinulosa 9.7
905 idiopathic nephrotic syndrome 9.7
906 pik3ca-related overgrowth syndrome 9.7
907 aortic aneurysm, familial abdominal, 1 9.6
908 atrial standstill 1 9.6
909 leukemia, chronic lymphocytic 2 9.6
910 hypercarotenemia and vitamin a deficiency, autosomal dominant 9.6
911 leukocyte adhesion deficiency, type i 9.6
912 cryoglobulinemia, familial mixed 9.6
913 felty syndrome 9.6
914 lymphoma, mucosa-associated lymphoid type 9.6
915 gray platelet syndrome 9.6
916 attention deficit-hyperactivity disorder 9.6
917 hypercholesterolemia, familial, 1 9.6
918 hypertension, essential 9.6
919 keratitis, hereditary 9.6
920 lacrimal duct defect 9.6
921 migraine with or without aura 1 9.6
922 myoclonus and ataxia 9.6
923 obsessive-compulsive disorder 9.6
924 pulmonary hypertension, primary, 1 9.6
925 thrombophilia due to thrombin defect 9.6
926 zinc finger protein 1 9.6
927 alopecia universalis congenita 9.6
928 anemia, hypochromic microcytic, with iron overload 1 9.6
929 complement component 2 deficiency 9.6
930 baller-gerold syndrome 9.6
931 enterocolitis 9.6
932 heart block, congenital 9.6
933 schimke immunoosseous dysplasia 9.6
934 papillon-lefevre syndrome 9.6
935 nijmegen breakage syndrome 9.6
936 multiple pterygium syndrome, lethal type 9.6
937 pancreatic agenesis 1 9.6
938 rapadilino syndrome 9.6
939 inflammatory bowel disease 1 9.6
940 reticulum cell sarcoma 9.6
941 rheumatic fever-related antigen 9.6
942 rothmund-thomson syndrome, type 2 9.6
943 sandhoff disease 9.6
944 sudden infant death syndrome 9.6
945 xeroderma pigmentosum, complementation group c 9.6
946 immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia 9.6
947 pigmentary disorder, reticulate, with systemic manifestations, x-linked 9.6
948 dyskeratosis congenita, x-linked 9.6
949 kearns-sayre syndrome 9.6
950 prostatic hyperplasia, benign 9.6
951 helicobacter pylori infection 9.6
952 adenomyosis 9.6
953 suppression of tumorigenicity 12 9.6
954 leukoregulin 9.6
955 omenn syndrome 9.6
956 chudley-mccullough syndrome 9.6
957 bare lymphocyte syndrome, type i 9.6
958 panbronchiolitis, diffuse 9.6
959 hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy 9.6
960 pars planitis 9.6
961 lig4 syndrome 9.6
962 glycine n-methyltransferase deficiency 9.6
963 lymphangioleiomyomatosis 9.6
964 anorexia nervosa 9.6
965 coronary heart disease 1 9.6
966 psoriatic arthritis 9.6
967 immunodeficiency, common variable, 1 9.6
968 juvenile myelomonocytic leukemia 9.6
969 legionnaire disease 9.6
970 mandibuloacral dysplasia with type b lipodystrophy 9.6
971 kawasaki disease 9.6
972 myd88 deficiency 9.6
973 adiponectin, serum level of, quantitative trait locus 1 9.6
974 microvascular complications of diabetes 3 9.6
975 microvascular complications of diabetes 4 9.6
976 microvascular complications of diabetes 5 9.6
977 microvascular complications of diabetes 6 9.6
978 microvascular complications of diabetes 7 9.6
979 hemophagocytic lymphohistiocytosis, familial, 5 9.6
980 microcephaly, epilepsy, and diabetes syndrome 9.6
981 pontine tegmental cap dysplasia 9.6
982 glucocorticoid resistance, generalized 9.6
983 thrombocytopenia 6 9.6
984 spastic paraplegia, intellectual disability, nystagmus, and obesity 9.6
985 mucopolysaccharidosis-plus syndrome 9.6
986 bone marrow failure syndrome 4 9.6
987 chlamydia pneumonia 9.6
988 autoimmune glomerulonephritis 9.6
989 autoimmune vasculitis 9.6
990 human granulocytic anaplasmosis 9.6
991 human monocytic ehrlichiosis 9.6
992 cutaneous lupus erythematosus 9.6
993 tick-borne encephalitis 9.6
994 erythema multiforme 9.6
995 korean hemorrhagic fever 9.6
996 epidemic typhus 9.6
997 endemic typhus 9.6
998 extrapulmonary tuberculosis 9.6
999 hypochromic microcytic anemia 9.6
1000 small cell carcinoma 9.6
1001 secondary progressive multiple sclerosis 9.6
1002 limb ischemia 9.6
1003 gastrointestinal carcinoma 9.6
1004 cd3zeta deficiency 9.6
1005 cd45 deficiency 9.6
1006 cd40 ligand deficiency 9.6
1007 osteoblastoma 9.6
1008 sclerosteosis 9.6
1009 ectopic pregnancy 9.6
1010 respiratory allergy 9.6
1011 drug allergy 9.6
1012 myh-9 related disease 9.6
1013 breast implant-associated anaplastic large cell lymphoma 9.6
1014 cytomegalovirus retinitis 9.6
1015 chronic myelomonocytic leukemia 9.6
1016 nodal marginal zone lymphoma 9.6
1017 mucolipidosis 9.6
1018 coronavirus infectious disease 9.6
1019 urolithiasis 9.6
1020 castleman disease 9.6
1021 endometritis 9.6
1022 cysticercosis 9.6
1023 sleeping sickness 9.6
1024 cerebral artery occlusion 9.6
1025 osteonecrosis 9.6
1026 neuroretinitis 9.6
1027 ehrlichiosis 9.6
1028 tuberculoid leprosy 9.6
1029 breast cyst 9.6
1030 eosinophilic meningitis 9.6
1031 tonsillitis 9.6
1032 legionellosis 9.6
1033 viral pneumonia 9.6
1034 pleural tuberculosis 9.6
1035 thrombotic thrombocytopenic purpura 9.6
1036 gastric ulcer 9.6
1037 dirofilariasis 9.6
1038 hemiplegia 9.6
1039 anogenital venereal wart 9.6
1040 allergic conjunctivitis 9.6
1041 spondyloarthropathy 9.6
1042 appendix lymphoma 9.6
1043 hantavirus hemorrhagic fever with renal syndrome 9.6
1044 keratomalacia 9.6
1045 pneumocystosis 9.6
1046 gnathomiasis 9.6
1047 pulmonary edema 9.6
1048 cauda equina syndrome 9.6
1049 fungal meningitis 9.6
1050 dysgammaglobulinemia 9.6
1051 lyme disease 9.6
1052 iron deficiency anemia 9.6
1053 esophagitis 9.6
1054 conn's syndrome 9.6
1055 panuveitis 9.6
1056 pulmonary alveolar proteinosis 9.6
1057 alveolar echinococcosis 9.6
1058 dengue hemorrhagic fever 9.6
1059 marasmus 9.6
1060 male infertility 9.6
1061 bronchopneumonia 9.6
1062 vulva cancer 9.6
1063 hepatitis a 9.6
1064 hemolytic-uremic syndrome 9.6
1065 necrotizing sialometaplasia 9.6
1066 hereditary spherocytosis 9.6
1067 relapsing fever 9.6
1068 focal segmental glomerulosclerosis 9.6
1069 severe pre-eclampsia 9.6
1070 hellp syndrome 9.6
1071 acute cystitis 9.6
1072 congenital toxoplasmosis 9.6
1073 pure red-cell aplasia 9.6
1074 pulmonary sarcoidosis 9.6
1075 multiple cranial nerve palsy 9.6
1076 facial paralysis 9.6
1077 peptic esophagitis 9.6
1078 childhood type dermatomyositis 9.6
1079 oral candidiasis 9.6
1080 neuroleptic malignant syndrome 9.6
1081 hantavirus pulmonary syndrome 9.6
1082 papilledema 9.6
1083 angioedema 9.6
1084 rheumatic fever 9.6
1085 neuroendocrine tumor 9.6
1086 duodenal ulcer 9.6
1087 cryptosporidiosis 9.6
1088 cheilitis 9.6
1089 pericarditis 9.6
1090 impotence 9.6
1091 exostosis 9.6
1092 intestinal perforation 9.6
1093 ectodermal dysplasia 9.6
1094 vaginitis 9.6
1095 myeloproliferative neoplasm 9.6
1096 leptospirosis 9.6
1097 iron metabolism disease 9.6
1098 thrombophilia 9.6
1099 psychotic disorder 9.6
1100 basal cell carcinoma 9.6
1101 splenic abscess 9.6
1102 pancreas disease 9.6
1103 dyskeratosis congenita 9.6
1104 contact dermatitis 9.6
1105 nonspecific interstitial pneumonia 9.6
1106 prostatic adenoma 9.6
1107 acute pancreatitis 9.6
1108 cryoglobulinemia 9.6
1109 severe acute respiratory syndrome 9.6
1110 allergic contact dermatitis 9.6
1111 food allergy 9.6
1112 papillary carcinoma 9.6
1113 proctitis 9.6
1114 lipid metabolism disorder 9.6
1115 skin squamous cell carcinoma 9.6
1116 lysosomal storage disease 9.6
1117 myelitis 9.6
1118 tracheal stenosis 9.6
1119 monkeypox 9.6
1120 temporal lobe epilepsy 9.6
1121 bone inflammation disease 9.6
1122 mesenchymal cell neoplasm 9.6
1123 septicemic plague 9.6
1124 systemic mastocytosis 9.6
1125 pancreatic ductal carcinoma 9.6
1126 retinitis 9.6
1127 aortic aneurysm 9.6
1128 pleural empyema 9.6
1129 cranial nerve palsy 9.6
1130 thrombophlebitis 9.6
1131 multidrug-resistant tuberculosis 9.6
1132 glucose metabolism disease 9.6
1133 myopathy 9.6
1134 carcinosarcoma 9.6
1135 ebola hemorrhagic fever 9.6
1136 hepatitis e 9.6
1137 seminoma 9.6
1138 avian influenza 9.6
1139 atrophic rhinitis 9.6
1140 placenta accreta 9.6
1141 pancreatitis 9.6
1142 thyroid gland disease 9.6
1143 lung adenoma 9.6
1144 adult acute lymphocytic leukemia 9.6
1145 eye disease 9.6
1146 agoraphobia 9.6
1147 panic disorder 9.6
1148 paraplegia 9.6
1149 epithelioid sarcoma 9.6
1150 viral encephalitis 9.6
1151 plasma cell neoplasm 9.6
1152 mediastinal malignant lymphoma 9.6
1153 thymic dysplasia 9.6
1154 peptic ulcer disease 9.6
1155 macular holes 9.6
1156 interdigitating dendritic cell sarcoma 9.6
1157 laryngeal disease 9.6
1158 periampullary adenocarcinoma 9.6
1159 tertiary syphilis 9.6
1160 appendicitis 9.6
1161 intestinal obstruction 9.6
1162 ileus 9.6
1163 actinomycosis 9.6
1164 reticulosarcoma 9.6
1165 collagen disease 9.6
1166 oral cavity cancer 9.6
1167 viral exanthem 9.6
1168 fascioliasis 9.6
1169 dermatophytosis 9.6
1170 atrophic gastritis 9.6
1171 evans' syndrome 9.6
1172 parapsoriasis 9.6
1173 croup 9.6
1174 pulmonary embolism 9.6
1175 dacryoadenitis 9.6
1176 lassa fever 9.6
1177 nasopharyngeal disease 9.6
1178 babesiosis 9.6
1179 aphthous stomatitis 9.6
1180 trichinosis 9.6
1181 orbit lymphoma 9.6
1182 sickle cell disease 9.6
1183 actinic cheilitis 9.6
1184 alopecia totalis 9.6
1185 antigen-peptide-transporter 2 deficiency 9.6
1186 bowen's disease 9.6
1187 bowenoid papulosis 9.6
1188 congenital cytomegalovirus 9.6
1189 disseminated infection with mycobacterium avium complex 9.6
1190 dock2 deficiency 9.6
1191 gnathostoma infection 9.6
1192 herpes simplex encephalitis 9.6
1193 hoyeraal hreidarsson syndrome 9.6
1194 idiopathic neutropenia 9.6
1195 indolent b cell lymphoma 9.6
1196 myalgic encephalomyelitis/chronic fatigue syndrome 9.6
1197 mycobacterium kansasii 9.6
1198 mycobacterium marinum 9.6
1199 nodular regenerative hyperplasia 9.6
1200 ocular toxoplasmosis 9.6
1201 orbital lymphoma 9.6
1202 plasmablastic lymphoma 9.6
1203 polyarticular onset juvenile idiopathic arthritis 9.6
1204 polymyositis 9.6
1205 primary central nervous system lymphoma 9.6
1206 pyogenic granuloma 9.6
1207 ring chromosome 6 9.6
1208 stevens-johnson syndrome/toxic epidermal necrolysis 9.6
1209 sutton disease 2 9.6
1210 systemic onset juvenile idiopathic arthritis 9.6
1211 tuberculous meningitis 9.6
1212 brain injury 9.6
1213 chronic pain 9.6
1214 mucopolysaccharidoses 9.6
1215 spasticity 9.6
1216 primary cutaneous b-cell lymphoma 9.6
1217 b-cell non-hodgkin lymphoma 9.6
1218 systemic autoimmune disease 9.6
1219 vulvar intraepithelial neoplasia 9.6
1220 primary hemophagocytic lymphohistiocytosis 9.6
1221 systemic epstein-barr virus-positive t-cell lymphoproliferative disease of childhood 9.6
1222 fixed drug eruption 9.6
1223 epstein-barr virus-related tumor 9.6
1224 epstein-barr virus-associated malignant lymphoproliferative disorder 9.6
1225 refractory celiac disease 9.6
1226 osteonecrosis of the jaw 9.6
1227 argyria 9.6
1228 lysosomal disease 9.6
1229 acute liver failure 9.6
1230 complications after hematopoietic stem cell transplantation 9.6
1231 pauci-immune glomerulonephritis 9.6
1232 polyploidy 9.6
1233 thrombotic microangiopathy 9.6
1234 red cell aplasia 9.6

Graphical network of the top 20 diseases related to Kabuki Syndrome 1:



Diseases related to Kabuki Syndrome 1

Symptoms & Phenotypes for Kabuki Syndrome 1

Human phenotypes related to Kabuki Syndrome 1:

58 31 (showing 97, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrotia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000400
2 abnormal dermatoglyphics 58 31 hallmark (90%) Very frequent (99-80%) HP:0007477
3 highly arched eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0002553
4 hemivertebrae 58 31 hallmark (90%) Very frequent (99-80%) HP:0002937
5 protruding ear 58 31 hallmark (90%) Very frequent (99-80%) HP:0000411
6 butterfly vertebrae 58 31 hallmark (90%) Very frequent (99-80%) HP:0003316
7 sparse lateral eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0005338
8 long eyelashes 58 31 hallmark (90%) Very frequent (99-80%) HP:0000527
9 short columella 58 31 hallmark (90%) Very frequent (99-80%) HP:0002000
10 short 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009237
11 short middle phalanx of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0005819
12 eversion of lateral third of lower eyelids 58 31 hallmark (90%) Very frequent (99-80%) HP:0007655
13 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
14 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
15 widely spaced teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000687
16 hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0000238
17 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
18 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
19 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
20 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
21 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
22 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
23 microdontia 58 31 frequent (33%) Frequent (79-30%) HP:0000691
24 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
25 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
26 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
27 coarctation of aorta 58 31 frequent (33%) Frequent (79-30%) HP:0001680
28 cerebral cortical atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002120
29 conductive hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000405
30 abnormal cardiac septum morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001671
31 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
32 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
33 hypodontia 58 31 frequent (33%) Frequent (79-30%) HP:0000668
34 recurrent infections 58 31 frequent (33%) Frequent (79-30%) HP:0002719
35 eeg abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0002353
36 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
37 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
38 obesity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001513
39 renal hypoplasia/aplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008678
40 mask-like facies 58 31 occasional (7.5%) Occasional (29-5%) HP:0000298
41 hydronephrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000126
42 preauricular skin tag 58 31 occasional (7.5%) Occasional (29-5%) HP:0000384
43 hip dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002827
44 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
45 precocious puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000826
46 hypoplasia of penis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008736
47 congenital diaphragmatic hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000776
48 small hand 58 31 occasional (7.5%) Occasional (29-5%) HP:0200055
49 microcornea 58 31 occasional (7.5%) Occasional (29-5%) HP:0000482
50 blue sclerae 58 31 occasional (7.5%) Occasional (29-5%) HP:0000592
51 ureteropelvic junction obstruction 58 31 occasional (7.5%) Occasional (29-5%) HP:0000074
52 lip pit 58 31 occasional (7.5%) Occasional (29-5%) HP:0100267
53 coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000589
54 crossed fused renal ectopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0004736
55 duplicated collecting system 58 31 occasional (7.5%) Occasional (29-5%) HP:0000081
56 seizure 31 occasional (7.5%) HP:0001250
57 abnormality of the dentition 58 31 Frequent (79-30%) HP:0000164
58 hearing impairment 31 HP:0000365
59 intellectual disability 31 HP:0001249
60 global developmental delay 31 HP:0001263
61 wide nasal bridge 31 HP:0000431
62 seizures 58 Occasional (29-5%)
63 malabsorption 31 HP:0002024
64 abnormal vertebral morphology 31 HP:0003468
65 feeding difficulties in infancy 31 HP:0008872
66 abnormal form of the vertebral bodies 58 Very frequent (99-80%)
67 postnatal growth retardation 31 HP:0008897
68 recurrent otitis media 31 HP:0000403
69 atrial septal defect 31 HP:0001631
70 hemolytic anemia 31 HP:0001878
71 abnormality of immune system physiology 58 Frequent (79-30%)
72 congenital hip dislocation 31 HP:0001374
73 joint hypermobility 31 HP:0001382
74 anal atresia 31 HP:0002023
75 micropenis 31 HP:0000054
76 ventricular septal defect 31 HP:0001629
77 intestinal malrotation 31 HP:0002566
78 abnormality of dental morphology 58 Frequent (79-30%)
79 preauricular pit 31 HP:0004467
80 abnormal localization of kidney 58 Occasional (29-5%)
81 depressed nasal tip 31 HP:0000437
82 oral cleft 58 Frequent (79-30%)
83 anal stenosis 31 HP:0002025
84 posteriorly rotated ears 31 HP:0000358
85 cafe-au-lait spot 31 HP:0000957
86 hirsutism 31 HP:0001007
87 generalized hypotonia 31 HP:0001290
88 congenital hypothyroidism 31 HP:0000851
89 recurrent aspiration pneumonia 31 HP:0002100
90 long palpebral fissure 31 HP:0000637
91 vertebral clefting 58 Very frequent (99-80%)
92 prominent fingertip pads 31 HP:0001212
93 autoimmune thrombocytopenia 31 HP:0001973
94 premature thelarche 31 HP:0010314
95 prominent eyelashes 31 HP:0011231
96 sparse and thin eyebrow 31 HP:0000535
97 anoperineal fistula 31 HP:0005218

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis
vertebral anomalies

Abdomen Gastrointestinal:
malabsorption
feeding difficulties
intestinal malrotation
anal stenosis
anoperineal fistula
more
Head And Neck Mouth:
cleft palate
high-arched palate

Growth Other:
postnatal growth retardation

Cardiovascular Heart:
atrial septal defect
ventricular septal defect
congenital heart defect

Hematology:
hemolytic anemia
idiopathic thrombocytopenic purpura

Head And Neck Ears:
preauricular pit
posteriorly rotated ears
hearing loss
large prominent ears
recurrent otitis media in infancy

Respiratory Lung:
aspiration pneumonia

Endocrine Features:
congenital hypothyroidism
premature thelarche

Skeletal Limbs:
joint hyperextensibility

Head And Neck Face:
trapezoid philtrum

Skeletal Hands:
short fifth finger
increased digital ulnar loop and hypothenar loop patterns
absent digital triradius c and/or d
persistence of fingerpads

Neurologic Central Nervous System:
seizures
hypotonia
developmental delay
mental retardation

Head And Neck Head:
microcephaly

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Eyes:
ptosis
blue sclerae
eversion of lateral third of lower eyelids
sparse eyebrows
long palpebral fissures
more
Cardiovascular Vascular:
coarctation of aorta

Genitourinary Ureters:
ureteropelvic junction obstruction

Head And Neck Nose:
depressed nasal tip
short nasal columella

Skin Nails Hair Hair:
hirsutism

Genitourinary Kidneys:
crossed fused renal ectopia
single fused kidneys

Genitourinary External Genitalia Male:
small penis

Skeletal Pelvis:
congenital hip dislocations

Skin Nails Hair Skin:
cafe au lait spots

Clinical features from OMIM:

147920

GenomeRNAi Phenotypes related to Kabuki Syndrome 1 according to GeneCards Suite gene sharing:

26 (showing 20, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-1 9.68 RAP1B
2 Increased shRNA abundance (Z-score > 2) GR00366-A-119 9.68 VILL
3 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.68 RAP1B VILL
4 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.68 RAP1B TIMM8A
5 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.68 RAP1B
6 Increased shRNA abundance (Z-score > 2) GR00366-A-150 9.68 KDM4C
7 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.68 RAP1B
8 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.68 VILL
9 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.68 VILL
10 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.68 VILL
11 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.68 KDM4C
12 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.68 VILL
13 Increased shRNA abundance (Z-score > 2) GR00366-A-191 9.68 RAP1B TIMM8A
14 Increased shRNA abundance (Z-score > 2) GR00366-A-209 9.68 KDM4C
15 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.68 TIMM8A
16 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.68 VILL
17 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.68 TIMM8A
18 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.68 TIMM8A
19 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.68 VILL
20 Increased shRNA abundance (Z-score > 2) GR00366-A-72 9.68 KDM4C

MGI Mouse Phenotypes related to Kabuki Syndrome 1:

45 (showing 5, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.03 DHFR DNMT3B HCFC1 KDM4C KDM6A KMT2A
2 cardiovascular system MP:0005385 10.02 CFH DHFR DNMT3B KDM6A KMT2A KMT2B
3 growth/size/body region MP:0005378 9.8 CFH DHFR DNMT3B HCFC1 KDM4C KDM6A
4 embryo MP:0005380 9.76 DHFR DNMT3B HCFC1 KDM6A KMT2A KMT2B
5 mortality/aging MP:0010768 9.47 CFH DHFR DNMT3B HCFC1 KDM4C KDM6A

Drugs & Therapeutics for Kabuki Syndrome 1

Drugs for Kabuki Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 8, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved 51-61-6, 62-31-7 681
2
Risperidone Approved, Investigational 106266-06-2 5073
3 Dopamine Agents
4 Dopamine Antagonists
5 Psychotropic Drugs
6 Neurotransmitter Agents
7 Antipsychotic Agents
8
Serotonin Investigational, Nutraceutical 50-67-9 5202

Interventional clinical trials:

(showing 5, show less)
# Name Status NCT ID Phase Drugs
1 Study on the Mnemic Functioning of Children With Kabuki Syndrome Completed NCT03547609
2 French Kabuki Syndrome Network. Epidemiology, Management of Patients and Research by Array-CGH Completed NCT01314534
3 Actigraphic Analysis of Treatment Response in a Six Year Old Girl With Kabuki Syndrome Completed NCT00723580 risperidone
4 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
5 Exploiting Epigenome Editing in Kabuki Syndrome: a New Route Towards Gene Therapy for Rare Genetic Disorders Active, not recruiting NCT03855631

Search NIH Clinical Center for Kabuki Syndrome 1

Cochrane evidence based reviews: kabuki syndrome

Genetic Tests for Kabuki Syndrome 1

Genetic tests related to Kabuki Syndrome 1:

# Genetic test Affiliating Genes
1 Kabuki Syndrome 1 29 KDM6A KMT2D
2 Kabuki Syndrome 29

Anatomical Context for Kabuki Syndrome 1

MalaCards organs/tissues related to Kabuki Syndrome 1:

40
Eye, Heart, Kidney, Skin, Brain, Testes, Lung

Publications for Kabuki Syndrome 1

Articles related to Kabuki Syndrome 1:

(showing 439, show less)
# Title Authors PMID Year
1
MLL2 and KDM6A mutations in patients with Kabuki syndrome. 6 56 61
23913813 2013
2
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. 61 56 6
20711175 2010
3
Kabuki syndrome: international consensus diagnostic criteria. 24 61 56
30514738 2019
4
Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development. 56 24 61
25972376 2015
5
A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A. 24 61 6
24664873 2014
6
KDM6A point mutations cause Kabuki syndrome. 61 24 6
23076834 2013
7
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. 61 24 56
22126750 2012
8
Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. 61 6 24
22197486 2012
9
A mutation screen in patients with Kabuki syndrome. 61 24 56
21607748 2011
10
Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. 61 24 56
21671394 2011
11
Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome. 56 24
15108197 2004
12
Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients. 56 24
3067577 1988
13
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients. 61 56
24633898 2014
14
Kabuki Syndrome 61 6
21882399 2011
15
Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan. 56 61
18593871 2008
16
The C20orf133 gene is disrupted in a patient with Kabuki syndrome. 61 56
17586838 2007
17
No major contribution of the TGFBR1- and TGFBR2-mediated pathway to Kabuki syndrome. 56 61
16528739 2006
18
Immune abnormalities are a frequent manifestation of Kabuki syndrome. 56 61
15887282 2005
19
Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort. 56 61
15785777 2005
20
Kabuki syndrome: a review. 56 61
15691356 2005
21
Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome. 56 61
15635075 2005
22
Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature. 61 56
15266618 2004
23
Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH. 61 56
14986831 2003
24
Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association. 56 61
14608645 2003
25
Kabuki syndrome: report of six Thai children and further phenotypic and genetic delineation. 61 56
12116214 2002
26
Kabuki syndrome: a review study of three hundred patients. 61 56
12002156 2002
27
Patellar dislocation in Kabuki syndrome. 56 61
11857567 2002
28
Defective clavicles in Kabuki syndrome. 61 56
12558121 2002
29
Clinical phenotypes of nine cases of Kabuki syndrome from New Zealand. 61 56
11665999 2001
30
Biliary atresia and Kabuki syndrome: another case with long-term follow-up. 56 61
11343312 2001
31
Congenital heart defects in Kabuki syndrome. 56 61
11343317 2001
32
Craniofacial and dental characteristics of Kabuki syndrome. 56 61
11223856 2001
33
Unexpected life-threatening complications in Kabuki syndrome. 61 56
10982974 2000
34
Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome. 61 56
10925391 2000
35
Biliary atresia in Kabuki syndrome. 56 61
10748418 2000
36
Kabuki syndrome and diaphragmatic defects: a frequent association in non-Asian patients? 61 56
10748421 2000
37
Lower lip pits and anorectal anomalies in Kabuki syndrome. 56 61
10482881 1999
38
Phenotypic spectrum and management issues in Kabuki syndrome. 56 61
10190924 1999
39
Severe congenital anomalies requiring transplantation in children with Kabuki syndrome. 56 61
9856564 1998
40
Ectodermal abnormalities in Kabuki syndrome. 61 56
9415681 1997
41
Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q 11.2. 61 56
8911598 1996
42
Kabuki syndrome: underdiagnosed recognizable pattern in cleft palate patients. 56 61
7727492 1995
43
Coarctation of the aorta in Kabuki syndrome. 61 56
8048822 1994
44
Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals". 24 61
30097611 2019
45
Dissecting KMT2D missense mutations in Kabuki syndrome patients. 61 24
30107592 2018
46
Cancer Management in Kabuki Syndrome: The First Case of Wilms Tumor and a Literature Review. 61 24
29489735 2018
47
Neurobehavioral features in individuals with Kabuki syndrome. 61 24
29536651 2018
48
Expanding the Oro-Dental and Mutational Spectra of Kabuki Syndrome and Expression of KMT2D and KDM6A in Human Tooth Germs. 24 61
29725259 2018
49
Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature. 24 61
29283410 2017
50
Congenital heart defects in molecularly proven Kabuki syndrome patients. 61 24
28884922 2017
51
Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations. 61 24
28295206 2017
52
A ketogenic diet rescues hippocampal memory defects in a mouse model of Kabuki syndrome. 61 24
27999180 2017
53
Pilomatricoma Associated with Kabuki Syndrome. 24 61
27778401 2017
54
Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report. 61 24
29321794 2017
55
Growth pattern in Kabuki syndrome with a KMT2D mutation. 61 24
27530205 2016
56
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2. 24 61
27302555 2016
57
Kabuki Syndrome with Cleft Palate. 61 24
27689058 2016
58
Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring. 24 61
26841933 2016
59
A Child with Kabuki Syndrome and Autism Spectrum Disorder. 61 24
28373809 2016
60
Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited. 61 24
26898171 2016
61
Cochlear Implantation in a Patient with Kabuki Syndrome. 61 24
27341000 2016
62
Growth Hormone Stimulation Tests in Children with Kabuki Syndrome. 24 61
27649541 2016
63
Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome. 61 24
26194542 2016
64
Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia. 61 24
26049589 2015
65
Spinal ependymoma in a patient with Kabuki syndrome: a case report. 24 61
26341229 2015
66
Immunologic assessment and KMT2D mutation detection in Kabuki syndrome. 61 24
25142838 2015
67
Kabuki syndrome: clinical and molecular characteristics. 24 61
26512256 2015
68
Speech and language in a genotyped cohort of individuals with Kabuki syndrome. 24 61
25755104 2015
69
Kabuki Syndrome and Anorectal Malformations: Implications for Diagnosis and Treatment. 24 61
26171318 2015
70
Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations. 61 24
25896430 2015
71
Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2). 24 61
24527667 2015
72
Rare ocular features in a case of Kabuki syndrome (Niikawa-Kuroki syndrome). 61 24
25421742 2014
73
Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome. 61 24
25273096 2014
74
Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome. 61 24
24739679 2014
75
Autoimmune haematological disorders in two Italian children with Kabuki syndrome. 61 24
24460868 2014
76
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study. 24 61
23320472 2013
77
Novel MLL2 mutation in Kabuki syndrome with hypogammaglobulinemia and severe chronic thrombopenia. 61 24
23042018 2013
78
Clinical and molecular spectrum of renal malformations in Kabuki syndrome. 24 61
23535010 2013
79
MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome. 61 24
22901312 2013
80
Unmasking Kabuki syndrome. 61 24
23131014 2013
81
Infrequent Manifestations of Kabuki Syndrome in a Patient with Novel MLL2 Mutation. 24 61
23239960 2012
82
Mirror-image asymmetry in monozygotic twins with kabuki syndrome. 61 24
23326255 2012
83
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients. 61 24
21658225 2011
84
MLL2 mutation spectrum in 45 patients with Kabuki syndrome. 61 24
21280141 2011
85
Symptomatic Chiari I malformation in Kabuki syndrome. 61 24
15523623 2005
86
On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS. 56
15214010 2004
87
Central nervous system abnormalities in Kabuki (Niikawa-Kuroki) syndrome. 56
12210310 2002
88
Inner ear abnormalities in Kabuki make-up syndrome: report of three cases. 56
10797429 2000
89
Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude syndrome critical region at 1q32-q41. 56
10482882 1999
90
Thirteen cases of Niikawa-Kuroki syndrome: report and review with emphasis on medical complications and preventive management. 56
9741469 1998
91
Interstitial Dup(1p) with findings of Kabuki make-up syndrome. 56
9637424 1998
92
Hypoplastic claviculae in the Kabuki (Niikawa-Kuroki) syndrome. 56
9555590 1998
93
Dominant inheritance of Kabuki make-up syndrome. 56
9375917 1997
94
Inheritance of Niikawa-Kuroki (Kabuki makeup) syndrome. 56
8985504 1996
95
Inheritance in Kabuki make-up (Niikawa-Kuroki) syndrome. 56
8741928 1996
96
Kabuki make-up (Niikawa-Kuroki) syndrome in five Spanish children. 56
8599349 1995
97
Kabuki make-up (Niikawa-Kuroki) syndrome in the Byelorussian register of congenital malformations: ten new observations. 56
7625432 1995
98
Lower lip pits and complete idiopathic precocious puberty in a patient with Kabuki make-up (Niikawa-Kuroki) syndrome. 56
8135293 1993
99
Anorectal anomalies associated with Kabuki make-up syndrome. 56
1469590 1992
100
Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases. 56
1285376 1992
101
The Niikawa-Kuroki (Kabuki make-up) syndrome in a Moslem Arab child. 56
2282718 1990
102
Autosomal dominant inheritance of the Kabuki make-up (Niikawa-Kuroki) syndrome. 56
2801772 1989
103
The dermatoglyphic pattern of the Kabuki make-up syndrome. 56
7116676 1982
104
Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. 56
7277096 1981
105
A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. 56
7277097 1981
106
The histone demethylase UTX/KDM6A in cancer: Progress and puzzles. 24
30628063 2019
107
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions. 24
28475860 2017
108
Hijacked in cancer: the KMT2 (MLL) family of methyltransferases. 24
25998713 2015
109
The cancer COMPASS: navigating the functions of MLL complexes in cancer. 24
25794446 2015
110
The landscape of somatic mutations in epigenetic regulators across 1,000 paediatric cancer genomes. 24
24710217 2014
111
Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate. 24
23354975 2013
112
Identification of JmjC domain-containing UTX and JMJD3 as histone H3 lysine 27 demethylases. 24
18003914 2007
113
UTX and JMJD3 are histone H3K27 demethylases involved in HOX gene regulation and development. 24
17713478 2007
114
Chromatin modifications and their function. 24
17320507 2007
115
Caregiver-reported clinical characteristics and the burden associated with Kabuki syndrome. 61
32246746 2020
116
Comparative meta-analysis of Kabuki syndrome with and without hyperinsulinemic hypoglycemia. 61
32533869 2020
117
The KMT2D Kabuki syndrome histone methylase controls neural crest cell differentiation and facial morphology. 61
32541010 2020
118
Kabuki syndrome with midgut malrotation and hyperinsulinemic hypoglycemia: A rare co-occurrence from Thailand. 61
32525229 2020
119
MLL4 is required after implantation, whereas MLL3 becomes essential during late gestation. 61
32439762 2020
120
Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome. 61
32203228 2020
121
COngenital heart disease and the Diagnostic yield with Exome sequencing (CODE Study): prospective cohort study and systematic review. 61
32388881 2020
122
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome. 61
31949313 2020
123
Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome. 61
32083401 2020
124
The phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case series. 61
31883305 2020
125
Growth charts in Kabuki syndrome 1. 61
31876365 2020
126
Holoprosencephaly in Kabuki syndrome. 61
31846209 2020
127
Lacrimal Puncta Agenesis in Kabuki Syndrome. 61
31789790 2020
128
Abnormal Peyer patch development and B-cell gut homing drive IgA deficiency in Kabuki syndrome. 61
31816409 2020
129
Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disorders. 61
31935506 2020
130
"RE: Lin JL, et al. 'Immunologic assessment and KMT2D mutation detection in Kabuki syndrome.' Clin Genet. 2015;88(3):255-260". 61
32064601 2020
131
Interannular bridge: a novel approach to address congenital mitral regurgitation. 61
32119854 2020
132
Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life. 61
31814321 2020
133
Changes in ocular motility in Kabuki syndrome. 61
31740281 2020
134
Prenatal and perinatal history in Kabuki Syndrome. 61
31654559 2020
135
The histone methyltransferase KMT2D, mutated in Kabuki syndrome patients, is required for neural crest cell formation and migration. 61
31813957 2020
136
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals. 61
31363182 2020
137
KMT2C/D COMPASS complex-associated diseases [KCDCOM-ADs]: an emerging class of congenital regulopathies. 61
31924266 2020
138
A fetus with Kabuki syndrome 2 detected by chromosomal microarray analysis. 61
32211113 2020
139
Diagnosis and Management of Hip Dislocation in Patients with Kabuki Syndrome. 61
31788172 2019
140
Expression pattern of Kmt2d in murine craniofacial tissues. 61
31228576 2019
141
Kabuki syndrome: review of the clinical features, diagnosis and epigenetic mechanisms. 61
31587141 2019
142
Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature. 61
31727177 2019
143
Clinical course and management of adult-onset immune-mediated cytopenia associated with Kabuki syndrome. 61
31427185 2019
144
Genetic and behavioral characterization of a Kmt2d mouse mutant, a new model for Kabuki Syndrome. 61
30891914 2019
145
Talon cusp in the temporary dentition of a patient with Kabuki syndrome: Case report with a two-year follow-up. 61
31661162 2019
146
Exome sequencing confirms diagnosis of kabuki syndrome in an-adult with hodgkin lymphoma and unusually severe multisystem phenotype. 61
30282051 2019
147
Slipped Capital Femoral Epiphysis in an Adult Patient With Kabuki Syndrome. 61
31773073 2019
148
Genome-wide DNA methylation and RNA analyses enable reclassification of two variants of uncertain significance in a patient with clinical Kabuki syndrome. 61
31268616 2019
149
Precocious neuronal differentiation and disrupted oxygen responses in Kabuki syndrome. 61
31465303 2019
150
Precocious chondrocyte differentiation disrupts skeletal growth in Kabuki syndrome mice. 61
31557133 2019
151
[One novel pathologic variation in KMT2D cause Kabuki syndrome with hearing loss as the main phenotype and related research on types of deafness]. 61
31446696 2019
152
Aggressive desmoid fibromatosis in Kabuki syndrome: Expanding the tumor spectrum. 61
31131956 2019
153
Inhibition of Notch signaling rescues cardiovascular development in Kabuki Syndrome. 61
31479440 2019
154
Novel heterozygous variants in KMT2D associated with holoprosencephaly. 61
31282990 2019
155
The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies. 61
30925032 2019
156
Bilateral Congenital Corneal Opacities as an Early-Onset Ocular Feature of Kabuki Syndrome. 61
30950893 2019
157
Orofacial features and medical profile of eight individuals with Kabuki syndrome. 61
31433389 2019
158
Cystic biliary atresia with paucity of bile ducts and gene mutation in KDM6A: a case report. 61
31414320 2019
159
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging. 61
31160375 2019
160
Systemic lupus erythematosus: A new autoimmune disorder in Kabuki syndrome. 61
30213761 2019
161
Capillary malformations in a child with Kabuki syndrome: A case report. 61
31245521 2019
162
Congenital Refractory Glaucoma: A New Ophthalmic Association of Kabuki Syndrome and its Management With Glaucoma Drainage Devices. 61
30676414 2019
163
Loss of function of Kmt2d, a gene mutated in Kabuki syndrome, affects heart development in Xenopus laevis. 61
30980591 2019
164
Exploring the cognitive phenotype of Kabuki (Niikawa-Kuroki) syndrome. 61
30724417 2019
165
Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies. 61
30293990 2019
166
Salzmann nodular degeneration features in a case of Kabuki make-up syndrome. 61
31151969 2019
167
Lysine demethylases KDM6A and UTY: The X and Y of histone demethylation. 61
31097364 2019
168
Diazoxide Causality Assessment of a Pericardial Effusion in a Child with Kabuki Syndrome 61
30362323 2019
169
Longitudinal Cognitive and Behavioral Presentation of Adult Female with Kabuki Syndrome. 61
30936415 2019
170
Atypical Autoimmune Hematologic Disorders in a Patient With Kabuki Syndrome. 61
29683950 2019
171
Hypermobility in individuals with Kabuki syndrome: The effect of growth hormone treatment. 61
30556359 2019
172
A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population. 61
30459467 2019
173
Coarctation of the aorta and left ventricular diverticulum in Kabuki syndrome. 61
30746822 2019
174
Diffuse Adenomatosis and Hepatocellular Carcinoma Treated with Liver Transplantation in an Adolescent Female with Kabuki Syndrome with a Novel KMT2D Gene Mutation. 61
31179148 2019
175
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals. 61
29907798 2019
176
Anatomical and functional abnormalities on MRI in kabuki syndrome. 61
30497982 2019
177
Burkitt lymphoma in a patient with Kabuki syndrome carrying a novel KMT2D mutation. 61
30569626 2019
178
Novel KDM6A splice-site mutation in kabuki syndrome with congenital hydrocephalus: a case report. 61
30509212 2018
179
Pulmonary Manifestations of Common Variable Immunodeficiency. 61
30067570 2018
180
Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia. 61
30238501 2018
181
[Clinical and laboratory characteristics and genetic diagnosis of Kabuki syndrome]. 61
30392209 2018
182
Unraveling molecular pathways shared by Kabuki and Kabuki-like syndromes. 61
28139835 2018
183
Childhood pilomatricomas: Associated anomalies. 61
29962097 2018
184
Orthodontic Treatment of a Kabuki Syndrome Patient. 61
29589982 2018
185
Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature. 61
29904177 2018
186
Genetic characteristics of patients with congenital hyperinsulinism. 61
29750770 2018
187
Clinical application of targeted next-generation sequencing in fetuses with congenital heart defect. 61
29536580 2018
188
Small molecule inhibition of RAS/MAPK signaling ameliorates developmental pathologies of Kabuki Syndrome. 61
30018450 2018
189
Sirolimus as an alternative treatment in patients with granulomatous-lymphocytic lung disease and humoral immunodeficiency with impaired regulatory T cells. 61
29532571 2018
190
A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report. 61
29914387 2018
191
Variants Associated with Infantile Cholestatic Syndromes Detected in Extrahepatic Biliary Atresia by Whole Exome Studies: A 20-Case Series from Thailand. 61
29707407 2018
192
Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype. 61
29307790 2018
193
Cerebral Lymphoproliferation in a Patient with Kabuki Syndrome. 61
29846842 2018
194
Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency. 61
28374925 2018
195
Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review. 61
29482518 2018
196
Mono-ADP-Ribosylhydrolase MACROD2 Is Dispensable for Murine Responses to Metabolic and Genotoxic Insults. 61
30619475 2018
197
Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency. 61
29902804 2018
198
First Replication of the Involvement of OTUD6B in Intellectual Disability Syndrome With Seizures and Dysmorphic Features. 61
30364145 2018
199
Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability. 61
29258477 2017
200
Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities. 61
29255178 2017
201
A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK. 61
28771707 2017
202
UTX-guided neural crest function underlies craniofacial features of Kabuki syndrome. 61
29073101 2017
203
Characteristics of epilepsy in patients with Kabuki syndrome with KMT2D mutations. 61
28404210 2017
204
Histone H3 lysine 4 methyltransferase KMT2D. 61
28669924 2017
205
On the significance of craniosynostosis in a case of Kabuki syndrome with a concomitant KMT2D mutation and 3.2 Mbp de novo 10q22.3q23.1 deletion. 61
28590022 2017
206
Refractory ITP in a patient with Kabuki syndrome: response to low-dose rituximab. 61
28138864 2017
207
Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome. 61
28256057 2017
208
Coinheritance of Novel Mutations in SCN1A Causing GEFS+ and in KDM6A Causing Kabuki Syndrome in a Family. 61
28442529 2017
209
Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann, Sotos, and Kabuki syndromes: A nationwide survey in Japan. 61
28102591 2017
210
Growth Hormone Therapy in Children with Kabuki Syndrome: 1-year Treatment Results. 61
28793284 2017
211
The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance. 61
28933623 2017
212
The Histone H3K27 Demethylase UTX Regulates Synaptic Plasticity and Cognitive Behaviors in Mice. 61
28970783 2017
213
Prevalence Estimates of Rare Congenital Anomalies by Integrating Two Population-Based Registries in Tuscany, Italy. 61
29045944 2017
214
KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection. 61
27991736 2017
215
Carotid artery occlusion in Kabuki syndrome: Case report and literature review. 61
28607822 2017
216
Robotic surgery for atrial septal defect closure in a case of Kabuki syndrome. 61
28106023 2017
217
Kabuki syndrome as a cause of non-immune fetal hydrops/ascites. 61
27568880 2016
218
An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity. 61
27530281 2016
219
Typical facial gestalt in X-linked Kabuki syndrome. 61
27481565 2016
220
Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics. 61
27799067 2016
221
A novel KMT2D mutation resulting in Kabuki syndrome: A case report. 61
27573763 2016
222
[Spontaneous Infection of an Atrophic Ureter with an Ectopic Ureteral Opening after Living-Donor Renal Transplantation in a Patient with Kabuki Syndrome]. 61
27760969 2016
223
A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia. 61
26954065 2016
224
Bronchus-associated Lymphoid Tissue in Kabuki Syndrome with Associated Hyper-IgM Syndrome/Common Variable Immunodeficiency. 61
27275756 2016
225
Persistent Hyperinsulinism in Kabuki Syndrome 2: Case Report and Literature Review. 61
27777708 2016
226
De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review. 61
27028180 2016
227
Humoral deficiency in three paediatric patients with genetic diseases. 61
26947896 2016
228
Epigenetic control of the immune system: a lesson from Kabuki syndrome. 61
26411453 2016
229
Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis. 61
26757828 2016
230
Body proportions in children with Kabuki syndrome. 61
26553706 2016
231
KMT2D regulates specific programs in heart development via histone H3 lysine 4 di-methylation. 61
26932671 2016
232
Mild humoral immunodeficiency in a patient with X-linked Kabuki syndrome. 61
26701671 2016
233
Duplicated left pulmonary artery: an unknown disease? Three case reports and review of the literature. 61
25739970 2016
234
A novel de novo mutation involving the MLL2 gene in a Kabuki syndrome patient presenting with seizures. 61
27922244 2016
235
Unusual Endoscopic Findings in Children: Esophageal and Gastric Polyps: Three Cases Report. 61
26817898 2016
236
What Is New in Genetics of Congenital Heart Defects? 61
27990414 2016
237
Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations. 61
25810209 2016
238
RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome. 61
26280580 2015
239
Neonatal case of novel KMT2D mutation in Kabuki syndrome with severe hypoglycemia. 61
25944076 2015
240
Autism spectrum disorder in Kabuki syndrome: clinical, diagnostic and rehabilitative aspects assessed through the presentation of three cases. 61
26129805 2015
241
The strong association of left-side heart anomalies with Kabuki syndrome. 61
26300940 2015
242
[Kabuki syndrome: Update and review]. 61
25934606 2015
243
Emanuel syndrome: A rare disorder that is often confused with Kabuki syndrome. 61
26167235 2015
244
Kabuki syndrome: clinical and molecular diagnosis in the first year of life. 61
25281733 2015
245
Novel loci for non-syndromic coarctation of the aorta in sporadic and familial cases. 61
25984793 2015
246
A novel mutation in SOX3 polyalanine tract: a case of Kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3. 61
24346842 2014
247
Kabuki Make-up Syndrome - A Case Report with Electromyographic study. 61
25584330 2014
248
Lower lip pits: van der woude or kabuki syndrome? 61
24088119 2014
249
Anesthesia management in a patient with kabuki syndrome. 61
25568573 2014
250
Opitz Award winners focus on hemihyperplasia, Kabuki syndrome: winning papers detail array testing for hemihyperplasia, genotype-phenotype differences in KS. 61
25224374 2014
251
An unusual presentation of Kabuki syndrome: clinical overlap with CHARGE syndrome. 61
24862881 2014
252
Acute myocardial infarction in Kabuki syndrome: chance occurrence or a novel risk factor for premature atherosclerosis? 61
25065336 2014
253
CHARGE and Kabuki syndromes: a phenotypic and molecular link. 61
24705355 2014
254
Additional post-natal diagnoses following antenatal diagnosis of isolated cleft lip +/− palate. 61
24625434 2014
255
De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome. 61
24838796 2014
256
A non-active-site SET domain surface crucial for the interaction of MLL1 and the RbBP5/Ash2L heterodimer within MLL family core complexes. 61
24680668 2014
257
The H3K27me3 demethylase UTX in normal development and disease. 61
24561908 2014
258
Membranoproliferative glomerulonephritis Type 3 associated with Kabuki syndrome. 61
23149249 2014
259
Hypoglycemia in Kabuki syndrome. 61
24311525 2014
260
Diverse functions of PHD fingers of the MLL/KMT2 subfamily. 61
24291127 2014
261
[Clinical diagnosis of Kabuki syndrome: phenotype and associated abnormalities in two new cases]. 61
24566779 2014
262
Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene. 61
24472332 2014
263
KMT2D maintains neoplastic cell proliferation and global histone H3 lysine 4 monomethylation. 61
24240169 2013
264
Finger creases lend a hand in Kabuki syndrome. 61
23933090 2013
265
Kabuki syndrome: a challenge for the primary care provider. 61
24170483 2013
266
Epigenetics, autism spectrum, and neurodevelopmental disorders. 61
24104594 2013
267
Kabuki syndrome and perisylvian cortical dysplasia in a Turkish girl. 61
24470832 2013
268
Portal for Families Overcoming Neurodevelopmental Disorders (PFOND): Implementation of a Software Framework for Facilitated Community Website Creation by Nontechnical Volunteers. 61
23920006 2013
269
A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome. 61
24019847 2013
270
Craniofacial and dental features in kabuki syndrome patients. 61
22023252 2013
271
Hypothalamic pituitary complications in Kabuki syndrome. 61
22434255 2013
272
Etiology and genetic factors in clefts of lip and/or palate reported at children's hospital, Lahore, Pakistan. 61
24019612 2013
273
Genetic syndromes caused by mutations in epigenetic genes. 61
23370504 2013
274
Multiple pilomatricomas in Kabuki syndrome. 61
22304445 2013
275
Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases. 61
23130995 2013
276
Report of the First Clinical Case of a Moroccan Kabuki Patient with a Novel MLL2 Mutation. 61
23653588 2013
277
A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease. 61
22641181 2013
278
Congenital heart defects in Kabuki syndrome. 61
23558868 2013
279
Trans-tail regulation of MLL4-catalyzed H3K4 methylation by H4R3 symmetric dimethylation is mediated by a tandem PHD of MLL4. 61
23249737 2012
280
Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome. 61
22840376 2012
281
Kabuki syndrome: diagnostic and treatment considerations. 61
23997823 2012
282
Congenital corneal staphyloma as a complication of Kabuki syndrome. 61
22786791 2012
283
Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome. 61
22740433 2012
284
Surgical treatment of hip dislocation in Kabuki syndrome: use of incomplete periacetabular osteotomy for posterior acetabular wall deficiency. 61
23904891 2012
285
[Kabuki syndrome]. 61
22387331 2012
286
Partial anomalous left pulmonary artery along with aortic coarctation in an infant with Kabuki syndrome. 61
22324629 2012
287
Kabuki syndrome revisited. 61
22437206 2012
288
Dilated vein of Galen in Kabuki syndrome. 61
21330077 2012
289
An 18-year-old woman with Kabuki syndrome, immunoglobulin deficiency and granulomatous lymphocytic interstitial lung disease. 61
22372173 2012
290
Craniofacial and dental characteristics of Kabuki syndrome: nine years cephalometric follow-up. 61
23019839 2012
291
Recurrent dislocation of the patella in kabuki make-up syndrome. 61
23320229 2012
292
Finding disease variants in Mendelian disorders by using sequence data: methods and applications. 61
22137099 2011
293
Long-term outcome of epilepsy in Kabuki syndrome. 61
21741276 2011
294
Ectodermal abnormalities in patients with Kabuki syndrome. 61
21692838 2011
295
Isochromosome X mosaicism in a child with Kabuki syndrome phenotype: A rare cytogenetic association. 61
22346002 2011
296
Kabuki syndrome: a new case associated with Becker nevus. 61
21906481 2011
297
Macular dystrophy in Kabuki syndrome: a new clinical feature? 61
21766738 2011
298
Kabuki syndrome and its anaesthetic management. 61
22013278 2011
299
Cancer predisposition in children with Kabuki syndrome. 61
21548020 2011
300
Strabismus and poor stereoacuity associated with Kabuki syndrome. 61
21461228 2011
301
Revisiting Mendelian disorders through exome sequencing. 61
21331778 2011
302
A Japanese patient with Kabuki syndrome and unilateral perisylvian cortical dysplasia. 61
20444562 2011
303
Insight into the genetic cause underlying Kabuki syndrome. 61
21070213 2011
304
Oral factitious injury in a child diagnosed with Kabuki syndrome. 61
23738796 2011
305
An infantile case of Zellweger syndrome presented with Kabuki-like phenotype. 61
21848015 2011
306
Congenital lymphatic dysplasia in Kabuki syndrome: first report of an unusual association. 61
21446574 2010
307
Seizures and EEG pattern in Kabuki syndrome. 61
20061104 2010
308
[Kabuki syndrome case report]. 61
21215036 2010
309
Hypoplastic left heart syndrome in patients with Kabuki syndrome. 61
20725720 2010
310
Developmental profile and trajectory of neuropsychological skills in a child with Kabuki syndrome: implications for assessment of syndromes associated with intellectual disability. 61
20812142 2010
311
[Intervention to reduce the difficulty in kanji copying related to the visuo-spatial dysfunction in patients with Williams syndrome]. 61
20845766 2010
312
Latex allergy in a patient with Kabuki syndrome. Case report. 61
20863935 2010
313
Kabuki syndrome and Crohn disease in a child with familial hypocalciuric hypercalcemia. 61
21175100 2010
314
Tremor and deep brain nuclei hyperintensities in Kabuki syndrome. 61
20610129 2010
315
Craniosynostosis in Kabuki syndrome. 61
20672944 2010
316
Kabuki syndrome and cancer in two patients. 61
20503331 2010
317
[Kabuki syndrome]. 61
20444412 2010
318
Esotropia in Kabuki syndrome. 61
21214160 2010
319
[A case of Kabuki syndrome admitted for acute diarrhea and growth retardation in a French hospital in tropical area]. 61
20138485 2010
320
Congenital polymicrogyria including the perisylvian region in early childhood. 61
20201970 2010
321
[Tapetoretinal dystrophy and unusual facial features in an 8-year-old boy]. 61
20013277 2010
322
Hypoplastic left heart syndrome in patients with Kabuki syndrome. 61
19967352 2010
323
A new case of MOMO syndrome. 61
19996736 2010
324
Dental evaluation of Kabuki syndrome patients. 61
19860501 2009
325
The first case of Niikawa-Kuroki syndrome in Kazakhstan associated with café au lait spots. 61
19834439 2009
326
Further evidence of dominant inheritance of Kabuki syndrome. 61
19625956 2009
327
Successful treatment with rituximab of refractory idiopathic thrombocytopenic purpura in a patient with Kabuki syndrome. 61
19662467 2009
328