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Gene: Kmt2d MGI:2682319

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Gene Summary

Name:
lysine (K)-specific methyltransferase 2D
Synonyms:
C430014K11Rik,  Mll4,  Mll2

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased mean corpuscular hemoglobin Kmt2dtm1.2(IMPC)Wtsi HET Early adult 2.52×10-08
increased circulating amylase level Kmt2dtm1.2(IMPC)Wtsi HET Early adult 5.11×10-10
increased circulating alkaline phosphatase level Kmt2dtm1.2(IMPC)Wtsi HET Early adult 3.82×10-07
decreased body length Kmt2dtm1.2(IMPC)Wtsi HET Early adult 1.03×10-06
decreased leukocyte cell number Kmt2dtm1.2(IMPC)Wtsi HET Early adult 5.25×10-05
decreased erythrocyte cell number Kmt2dtm1.2(IMPC)Wtsi HET   Early adult 7.07×10-07
decreased circulating sodium level Kmt2dtm1.2(IMPC)Wtsi HET   Early adult 2.58×10-05
decreased circulating chloride level Kmt2dtm1.2(IMPC)Wtsi HET Early adult 1.13×10-08

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Kmt2d mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Kmt2d by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Kabuki Syndrome
Failure to thrive, Sensorineural hearing impairment, Obesity, Protruding ear, Conductive hearing ... ORPHA:2322
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Natal tooth, Mixed hearing impairment, Micrognathia, Carious teeth, Wide nasal bridge, Severe sen... OMIM:620186
Kabuki Syndrome 1
Posteriorly rotated ears, Micrognathia, Wide nasal bridge, Protruding ear, Lateral ventricle dila... OMIM:147920

The table below shows human diseases predicted to be associated to Kmt2d by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:300971
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:214700
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hyperuricemia, Increase... OMIM:613845
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:610600
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... OMIM:300539
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia OMIM:613090
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... OMIM:603553
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Herpes Simplex Virus Encephalitis
Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration ORPHA:1930
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:177735
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Tremor, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia OMIM:240200
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Abnormal erythrocyte enzyme level, Abnormal circulating porphyrin concentration, My... ORPHA:100924
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556037
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration, Anemia ORPHA:79273
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Leukocytosis, Thrombocytopenia ORPHA:83601
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Chorea, Gait ataxia, Depression, Progressive cerebellar ... ORPHA:248111
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556030
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... ORPHA:247353
Central Diabetes Insipidus
Hyponatremia ORPHA:178029
Hyperkalemic Periodic Paralysis
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:682
Wolcott-Rallison Syndrome
Hyponatremia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Hyperbiliru... ORPHA:1667
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... ORPHA:766
Snakebite Envenomation
Hyponatremia, Thrombocytopenia ORPHA:449285
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia OMIM:264350
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ... ORPHA:3077
Mirage Syndrome
Hyponatremia, Thrombocytopenia, Hyperkalemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Anemia OMIM:617053
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia OMIM:612716
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Necrotizing Enterocolitis
Hyponatremia, Leukocytosis, Thrombocytopenia, Neutropenia ORPHA:391673
Colchicine Poisoning
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... ORPHA:31824
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Small for gestational age, Wide nasal bridge, Protruding ear OMIM:618302
Alg8-Cdg
Hyponatremia, Thrombocytopenia, Anemia ORPHA:79325
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia OMIM:602522
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Bartter Syndrome Type 4
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia ORPHA:89938
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:171876
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Small for gestational age, Hypoplasia of the maxilla, Decreased body weigh... ORPHA:93950
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Congenital Isolated Acth Deficiency
Hyponatremia, Hyperkalemia ORPHA:199296
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... OMIM:601678
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... ORPHA:90038
Mandibulofacial Dysostosis-Microcephaly Syndrome
Absent tragus, Micrognathia, Hypoplasia of the maxilla, Overfolded helix, Abnormal middle ear mor... ORPHA:79113
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ... ORPHA:3202
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hyperkalemia OMIM:614736
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... ORPHA:94093
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Abnormality of iron homeo... ORPHA:848
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Hypoplasia of the maxilla, Cupped ear, Decreased body weight, Macrotia ORPHA:93945
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Renal Hypoplasia, Bilateral
Hyponatremia, Hyperkalemia, Anemia ORPHA:97362
Chédiak-Higashi Syndrome
Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Increased circul... ORPHA:167
Late-Onset Isolated Acth Deficiency
Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Hyperkalemia, Hy... ORPHA:199299
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula... OMIM:241200
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia OMIM:620157
Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:427
Porphyria Variegata
Hyponatremia, Abnormal circulating porphyrin concentration, Anemia ORPHA:79473
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... ORPHA:90646
Shigellosis
Hyponatremia, Abscess, Leukocytosis, Abnormal blood ion concentration, Microangiopathic hemolytic... ORPHA:810
Legionnaires Disease
Hyponatremia, Splenomegaly, Lymphopenia ORPHA:549
Aica-Ribosuria Due To Atic Deficiency
Hyponatremia OMIM:608688
Mandibulofacial Dysostosis With Alopecia
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Trismus, Cupped ear, ... OMIM:616367
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Leukopenia ORPHA:318
Whipple Disease
Hyponatremia, Splenomegaly, Anemia ORPHA:3452
Opticocochleodentate Degeneration
Mental deterioration, Cochlear degeneration, Hearing impairment OMIM:258700
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, ... ORPHA:95409
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Keipert Syndrome
Hypoplasia of the maxilla, Sensorineural hearing impairment, Cognitive impairment ORPHA:2662
20P12.3 Microdeletion Syndrome
Hypoplasia of the maxilla, Wide nasal bridge, Microtia, Thickened helices, Malar flattening ORPHA:261295
Cholera
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Adenohypophysitis
Hyponatremia, Normochromic anemia ORPHA:95512
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Adrenal Hypoplasia, Congenital
Hyponatremia OMIM:300200
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Hyperkalemia, Abnormal lymph... ORPHA:293978
Frontonasal Dysplasia 1
Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Wide nasal bridge, Low-set ears, Conducti... OMIM:136760
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Small for gestational age, Hypoplasia of the maxilla, Sensorineural hearing impairment, Failure t... OMIM:608154
Lujan-Fryns Syndrome
Micrognathia, Hypoplasia of the maxilla, Protruding ear, Low-set ears, Attention deficit hyperact... ORPHA:776
Panhypophysitis
Hyponatremia, Normochromic anemia ORPHA:95513
Aarskog-Scott Syndrome
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Hypoplasia of the maxilla, External... ORPHA:915
Alg12-Cdg
Hyponatremia, B lymphocytopenia, Hypoalbuminemia, Hypocholesterolemia, Thrombocytopenia ORPHA:79324
Infant Botulism
Hyponatremia ORPHA:178478
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:90791
Pituitary Apoplexy
Hyponatremia, Normochromic anemia ORPHA:95613
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplenism, Vacuolated lymphocytes... ORPHA:275761
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Sensorineural hearing impairment, Cu... OMIM:602588
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, Hypocalcemia OMIM:617913
Addison Disease
Hyponatremia, Normocytic anemia, Hypercalcemia, Thiamine-responsive megaloblastic anemia, Hyperka... ORPHA:85138
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:613011
7Q31 Microdeletion Syndrome
Short attention span, Hypoplasia of the maxilla, Hypoplasia of the cochlea, Hypoplasia of the sem... ORPHA:251061
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Short nose, Sensorineural hearing impairment ORPHA:1529
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Hyperkalemia, Hypochloremia ORPHA:90794
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Split-Hand/Foot Malformation 3
Microretrognathia, Hypoplasia of the maxilla, Abnormal pinna morphology OMIM:246560
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Brain abscess, Leukocytosis, Hyperkalemia, Hypocalcemia, Thromboc... ORPHA:544482
Rabin-Pappas Syndrome
Hyponatremia OMIM:620155
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Hypoplasia of the maxilla, Wide nasal bridge, Short nose, Macrotia, Agenesis of corpus callosum OMIM:218000
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Familial Glucocorticoid Deficiency
Hyponatremia, Hyperkalemia ORPHA:361
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoornithinemia, Hype... OMIM:615751
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Short nose, Sensorineural hearing impairment ORPHA:90653
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Obesity ORPHA:397973
Maxillonasal Dysplasia
Mandibular prognathia, Hypoplasia of the maxilla, Short nose ORPHA:1248
Sheehan Syndrome
Hyponatremia, Normochromic anemia ORPHA:91355
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperammonemia OMIM:610505
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Hypoplasia of the maxilla, Slender build OMIM:300676
Japanese Encephalitis
Hyponatremia, Neutrophilia ORPHA:79139
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Hyperkalemia ORPHA:90790
Microcephaly-Capillary Malformation Syndrome
Small for gestational age, Hypoplasia of the maxilla, Low-set ears, Short nose, Failure to thrive... OMIM:614261
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia OMIM:304800
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Usher Syndrome Type 1
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Abnormal ... ORPHA:231169
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Hypoplasia of the maxilla, Sensorineural hearing impairment,... OMIM:109120
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Sensorineural hearin... ORPHA:87
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Cleft Lip/Palate
Agenesis of lateral incisor, Hypoplasia of the maxilla, Conductive hearing impairment, Dental mal... ORPHA:199306
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Hypoplasia of the maxilla, Protruding ear OMIM:618737
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Failure to thrive, Hypoplasia of the maxilla, Protruding ear, Low-set ears, Overfolded helix, Mac... ORPHA:481152
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c... ORPHA:168558
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Long nose, Dental malocclusio... OMIM:257850
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c... ORPHA:289548
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Cupped ear, Wide nasal bridge, Low-set ears OMIM:167730
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla ORPHA:2776
Familial Dysautonomia
Hyponatremia ORPHA:1764
Choreoacanthocytosis
Chorea, Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Impaired vib... ORPHA:2388
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia OMIM:601809
Crouzon Syndrome
Hypoplasia of the maxilla, Conductive hearing impairment, Narrow internal auditory canal, Hearing... ORPHA:207
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... ORPHA:52368
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... OMIM:619991
Aarskog-Scott Syndrome
Hypoplasia of the maxilla, Wide nasal bridge, Large earlobe, Attention deficit hyperactivity diso... OMIM:305400
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, Protruding ear ORPHA:85279
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hyperkalemia OMIM:201810
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Amelogenesis imperfecta OMIM:601216
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles OMIM:264270
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Posteriorly rotated ears, Abnormal dental enamel morphology, Micrognathia,... ORPHA:439822
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypoammonemia, Anemia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Thrombo... ORPHA:534
Acute Intermittent Porphyria
Hyponatremia ORPHA:79276
Cystinosis, Nephropathic
Hyponatremia, Splenomegaly, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemia, Hypomagne... OMIM:219800
8Q22.1 Microdeletion Syndrome
Underfolded helix, Abnormal pinna morphology, Hypoplasia of the maxilla, Wide nasal bridge, Abnor... ORPHA:178303
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Polycythemia, Increased total iron binding capacity, Unconjugated hyperbilirub... OMIM:613280
Acrofacial Dysostosis, Cincinnati Type
Micrognathia, Hypoplasia of the maxilla, Macrotia, Anotia, Microtia, Decreased body weight, Retro... OMIM:616462
Holoprosencephaly
Hyponatremia, Abnormality of the spleen ORPHA:2162
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hyperammonemia, Hyperprolinemia, H... ORPHA:3008
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla OMIM:156510
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia OMIM:618252
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Increased serum bile acid concentr... ORPHA:731
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Malar flattening, Conductive hearing impairment ORPHA:93262
Cleft Velum
Hypoplasia of the maxilla, Conductive hearing impairment, Recurrent otitis media ORPHA:99772
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Hypokalemia OMIM:618426
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ... OMIM:616393
Distal Xq28 Microduplication Syndrome
Hypoplasia of the maxilla, Microtia, Attention deficit hyperactivity disorder, Absent antihelix ORPHA:293939
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231183
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla OMIM:300266
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Micrognathia OMIM:166300
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl... OMIM:619381
Meier-Gorlin Syndrome 4
Micrognathia, Hypoplasia of the maxilla, Microtia, Low-set ears, Failure to thrive OMIM:613804
Nager Syndrome
Low-set, posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Microtia, Hypoplasia ... ORPHA:245
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening, Short nose, Sensorineural hearing impairment OMIM:122880
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Microretrognathia, Hypoplasia of the maxilla, Abnormal pinna morphology, Posteriorly rotated ears ORPHA:228396
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Micrognathia, Hypoplasia of the maxilla, Long nose, Low-set ears, Abnormally folded helix, Agenes... OMIM:309520
Acrodysostosis
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Wide nasal bridge, S... ORPHA:950
Dislocation Of The Hip-Dysmorphism Syndrome
Malar flattening, Prominence of the premaxilla, Wide nasal bridge, Hearing abnormality ORPHA:2412
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Distal Deletion 10Q
Failure to thrive, Micrognathia, Congenital sensorineural hearing impairment, Wide nasal bridge, ... ORPHA:96148
Lowry-Maclean Syndrome
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Talon cusp, Low-set e... ORPHA:2409
Cohen Syndrome
Small for gestational age, Micrognathia, Hypoplasia of the maxilla, Macrodontia of permanent maxi... OMIM:216550
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Malar flattening, Micrognathia OMIM:241310
Cerebrofacioarticular Syndrome
Micrognathia, Hypoplasia of the maxilla, Dysplastic corpus callosum, Wide nasal bridge, Microtia,... ORPHA:314679
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Failure to thrive, Micrognathia, Hypoplasia of the maxilla, Protruding ear... OMIM:300534
Axenfeld-Rieger Syndrome
Hypoplasia of the maxilla, Wide nasal bridge, Hearing impairment ORPHA:782
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Hypoplasia of the maxilla, Wide nasal bridge, Hearing impairment OMIM:601499
Pycnodysostosis
Obtuse angle of mandible, Delayed eruption of primary teeth, Persistence of primary teeth, Hypopl... ORPHA:763
Marshall Syndrome
Micrognathia, Hypoplasia of the maxilla, Sensorineural hearing impairment, Hypoplastic frontal si... ORPHA:560
Jackson-Weiss Syndrome
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:1540
Trichotillomania
Hair-pulling, Compulsive behaviors OMIM:613229
Hypohidrotic Ectodermal Dysplasia
Hypoplasia of the maxilla, Failure to thrive, Sinusitis, Cognitive impairment ORPHA:238468
Meier-Gorlin Syndrome 5
Micrognathia, Hypoplasia of the maxilla, Microtia, Low-set ears, Small earlobe, Failure to thrive OMIM:613805
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin ORPHA:423479
Carpenter Syndrome 1
Abnormal pinna morphology, Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathia,... OMIM:201000
Gorham-Stout Disease
Abnormality of the temporomandibular joint, Abnormal facial skeleton morphology, Abnormal ethmoid... ORPHA:73
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Low-set, posteriorly rotated ears, Hypoplasia of the maxilla, Sensorineural he... ORPHA:1307
Temtamy Preaxial Brachydactyly Syndrome
Micrognathia, Hypoplasia of the maxilla, Talon cusp, Low-set ears, Severe sensorineural hearing i... ORPHA:363417
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Cleidocranial Dysplasia 2
Delayed eruption of primary teeth, Hypoplasia of the maxilla, Supernumerary tooth, Failure to thr... OMIM:620099
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Short nose OMIM:137550
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Advanced eruption of teeth, Short nose, Ret... OMIM:614753
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Prominent crus of helix, External ear malformation, Sensorineural hear... ORPHA:794
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia, Hyperkalemia ORPHA:293987
Van Maldergem Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Sensorineural hearing impairment, Dental malocclusion, W... OMIM:601390
Van Maldergem Syndrome 2
Micrognathia, Hypoplasia of the maxilla, Sensorineural hearing impairment, Dental malocclusion, W... OMIM:615546
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathia, Pro... OMIM:170390
Treacher-Collins Syndrome
Failure to thrive, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Wi... ORPHA:861
Bor Syndrome
Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of the cochlea, Atr... ORPHA:107
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Mandibular aplasia, Narrow internal auditory canal, Agenesis o... ORPHA:990
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypoplasia of the maxilla, Conductive hearing impairment, Atresia of the external auditory canal,... OMIM:106260
Atelosteogenesis, Type Iii
Hypoplasia of the maxilla, Malar flattening, Micrognathia OMIM:108721
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Large for gestational age, Wid... OMIM:213980
Kagami-Ogata Syndrome
Hypoplasia of the maxilla, Retrognathia, Microtia, Micrognathia OMIM:608149
Andersen-Tawil Syndrome
Abnormality of dental color, Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathi... ORPHA:37553
Pfeiffer Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Short nose OMIM:101600
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul... OMIM:611584
Crouzon Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Atresia of the external auditory canal, Conduct... OMIM:123500
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Failure to thrive, Micrognathia, Hypoplasia of the maxilla, Sensorineu... OMIM:601812
Cohen Syndrome
Failure to thrive in infancy, Micrognathia, Hypoplasia of the maxilla, Sensorineural hearing impa... ORPHA:193
Ear-Patella-Short Stature Syndrome
Failure to thrive, Microtia, third degree, Posteriorly rotated ears, Micrognathia, Hypoplasia of ... ORPHA:2554
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Broad-based gait, Pain insensitivity, Aggressive behavior, Hair-pulling, Polyphagia,... OMIM:620330
Lead Poisoning
Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Abnormal T cell morphol... ORPHA:330015
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Eunuchoid habitus ORPHA:3044
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of the maxilla, Wide nasal bridge, Aplasia/Hypoplas... ORPHA:306542
Nablus Mask-Like Facial Syndrome
Posteriorly rotated ears, Hypoplasia of the maxilla, Wide nasal bridge, Overfolded helix, Low-set... OMIM:608156
Angelman Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Obesity OMIM:105830
Shprintzen-Goldberg Syndrome
Failure to thrive, Posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Protruding ... ORPHA:2462
Coffin-Lowry Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Hypoplasia of the maxilla, Sensorineural he... ORPHA:192
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Abnormality of cartilage of external ear, Cupped ear, Low-set ears ORPHA:2399
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Delayed eruption of teeth, Small for gestational age, Hypoplasia of the ma... OMIM:101800
Meier-Gorlin Syndrome 3
Microretrognathia, Posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Microtia, L... OMIM:613803
Martsolf Syndrome 1
Posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Low-set ears, Prominent antitr... OMIM:212720
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... OMIM:260400
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Wide nasal bridge, Decreased body weight OMIM:614886
Rapp-Hodgkin Syndrome
Hypoplasia of the maxilla, Carious teeth, Taurodontia, Recurrent otitis media, Stenosis of the ex... OMIM:129400
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Hyperkalemia, Decreased circulating renin level OMIM:201750
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... OMIM:617052
Dysostosis, Stanescu Type
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Carious teeth, Abnormal dental ename... ORPHA:1798
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Irritability, Dysphagia, Abnormal repetitive mannerisms ORPHA:447997
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Holoprosencephaly 9
Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Partial agenesis of the corpus callosum,... OMIM:610829
Cardioacrofacial Dysplasia 1
Hypoplasia of the maxilla OMIM:619142
Meier-Gorlin Syndrome 1
Small for gestational age, Micrognathia, Hypoplasia of the maxilla, Microtia, Atresia of the exte... OMIM:224690
Brachytelephalangic Chondrodysplasia Punctata
Hypoplasia of the maxilla, Hypoplasia of the anterior nasal spine, Mixed hearing impairment, Shor... ORPHA:79345
Osteoglophonic Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Eruption failure, Lo... OMIM:166250
Cowden Syndrome 5
Hypoplasia of the maxilla, Hearing impairment, Micrognathia OMIM:615108
Mohr Syndrome
Micrognathia, Hypoplasia of the maxilla, Agenesis of central incisor, Conductive hearing impairme... OMIM:252100
Frontorhiny
Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Congenital conductive hearing impairment,... ORPHA:391474
Barber-Say Syndrome
Mandibular prognathia, Delayed eruption of teeth, Extra concha fold, Micrognathia, Hypoplasia of ... OMIM:209885
Shprintzen-Goldberg Craniosynostosis Syndrome
Posteriorly rotated ears, Abnormal pinna morphology, Micrognathia, Hypoplasia of the maxilla, Den... OMIM:182212
Cowden Syndrome 6
Hypoplasia of the maxilla, Hearing impairment, Micrognathia OMIM:615109
Gorlin-Chaudhry-Moss Syndrome
Hypoplasia of the maxilla, Conductive hearing impairment ORPHA:2095
Rubinstein-Taybi Syndrome 1
Short attention span, Failure to thrive, Small for gestational age, Micrognathia, Hypoplasia of t... OMIM:180849
Charge Syndrome
Delayed eruption of teeth, Low-set, posteriorly rotated ears, External ear malformation, Aplasia/... ORPHA:138
Thymoma
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
Elsahy-Waters Syndrome
Mandibular prognathia, Delayed eruption of teeth, Posteriorly rotated ears, Hypoplasia of the max... OMIM:211380
Floating-Harbor Syndrome
Short attention span, Small for gestational age, Persistence of primary teeth, Hypoplasia of the ... ORPHA:2044
Hartsfield Syndrome
Hypernatremia OMIM:615465
Distal Deletion 19P
Hypoplasia of the maxilla, Conductive hearing impairment, Sensorineural hearing impairment, Low-s... ORPHA:96129
Cowden Syndrome 1
Hypoplasia of the maxilla, Hearing impairment, Micrognathia OMIM:158350
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Geroderma Osteodysplasticum
Mandibular prognathia, Hypoplasia of the maxilla, Malar flattening OMIM:231070
Zttk Syndrome
Hypoplasia of the maxilla, Dysplastic corpus callosum, Wide nasal bridge, Protruding ear, Low-set... OMIM:617140
Goldberg-Shprintzen Syndrome
Hypoplasia of the maxilla, Wide nasal bridge, Low-set ears OMIM:609460
Noonan Syndrome
Low-set, posteriorly rotated ears, Micrognathia, Aplasia of the semicircular canal, Sensorineural... ORPHA:648
Craniolenticulosutural Dysplasia
Hypoplasia of the maxilla, Carious teeth, Delayed eruption of teeth, Hypoplasia of teeth ORPHA:50814
Marshall-Smith Syndrome
Microretrognathia, Prominence of the premaxilla, Failure to thrive, Overfolded helix, Bilateral c... OMIM:602535
Van Den Ende-Gupta Syndrome
Posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Overfolded helix, Protruding e... OMIM:600920
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Sensorineural hearing impairment, Hypoplasia of the semicirc... OMIM:609136
Recon Progeroid Syndrome
Attached earlobe, Prominence of the premaxilla, Delayed eruption of permanent teeth, Microtia OMIM:620370
Stickler Syndrome
Abnormal dental enamel morphology, Cachexia, Micrognathia, Hypoplasia of the maxilla, Sensorineur... ORPHA:828
Myhre Syndrome
Mandibular prognathia, Small for gestational age, Hypoplasia of the maxilla, Obesity, Microtia, L... OMIM:139210
Microphthalmia With Limb Anomalies
Low-set, posteriorly rotated ears, Hypoplasia of the premaxilla, Micrognathia, Hypoplasia of the ... ORPHA:1106
Bartsocas-Papas Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Cupped ear, Microtia, Low-set ears, Short nose OMIM:263650
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Multicentric Osteolysis, Nodulosis, And Arthropathy
Hypoplasia of the maxilla, Delayed eruption of teeth, Micrognathia OMIM:259600
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Myhre Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Craniofacial hyperostosis, Hearing impairment ORPHA:2588
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Abnormality of the ear ORPHA:1101
Branchioskeletogenital Syndrome
Mandibular prognathia, Attached earlobe, Mixed hearing impairment, Hypoplasia of the maxilla, Car... ORPHA:1299
Greenberg Dysplasia
Hypoplasia of the maxilla, Retrognathia, Low-set ears, Micrognathia OMIM:215140
Monosomy 22Q13.3
Impaired pain sensation, Hair-pulling, Hyperactivity, Bruxism ORPHA:48652
Dyskeratosis Congenita
Hypoplasia of the maxilla, Taurodontia, Carious teeth, Hearing impairment ORPHA:1775
Xq21 Microdeletion Syndrome
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Obesity, A... ORPHA:1435
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Prominent crus of helix, Long nose, Cleft of chin, Microtia, Low-set e... OMIM:101400
Ablepharon Macrostomia Syndrome
Hypoplasia of the maxilla, Microtia, Hypoplasia of the zygomatic bone, Atresia of the external au... ORPHA:920
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Failure to thrive in infancy, Hypoplasia of the maxilla, Dysplastic corpus callosum, Wide nasal b... ORPHA:500150
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Hypoplasia of the maxilla, Short nose, Taurodontia OMIM:305100
Cutis Laxa, Autosomal Recessive, Type Iic
Mandibular prognathia, Hypoplasia of the maxilla, Low-set ears, Decreased body weight, Malar flat... OMIM:617402
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Large f... ORPHA:96334
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Abnormality of the stapes, Failure to thrive in infancy, Micrognathia,... ORPHA:798
Weill-Marchesani Syndrome 2
Hypoplasia of the maxilla, Thickened helices OMIM:608328
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Delayed eruption of teeth, Stapes ankylosis, Absent malleus, Hypoplasia of... OMIM:614188
3Mc Syndrome 2
Prominence of the premaxilla, Wide nasal bridge, Hearing impairment OMIM:265050
Peters-Plus Syndrome
Posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Agenesis of maxillary lateral ... OMIM:261540
Weill-Marchesani Syndrome 1
Hypoplasia of the maxilla OMIM:277600
Primrose Syndrome
Calcification of the auricular cartilage, Hypoplasia of the maxilla, Wide nasal bridge, Superiorl... OMIM:259050
Charge Syndrome
Mixed hearing impairment, Micrognathia, Aplasia of the semicircular canal, Sensorineural hearing ... OMIM:214800
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hypoplasia of the maxilla, Carious teeth, Microtia, Malar flattening, Hearing impairment OMIM:604292
Craniofacial Microsomia 1
Micrognathia, Hypoplasia of the maxilla, Duplicated tragus, Sensorineural hearing impairment, Ano... OMIM:164210
Aicardi Syndrome
Prominence of the premaxilla, Partial agenesis of the corpus callosum, Protruding ear ORPHA:50
Norrie Disease
Failure to thrive, Cachexia, Sensorineural hearing impairment, Protruding ear, Abnormal cochlea m... ORPHA:649
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hypoplasia of the maxilla, Carious teeth, Microtia, Conductive hearing impairment, Malar flattening OMIM:129900
Aicardi Syndrome
Prominence of the premaxilla, Partial agenesis of the corpus callosum, Lateral ventricle dilatation OMIM:304050
Axenfeld-Rieger Syndrome, Type 1
Hypoplasia of the maxilla, Wide nasal bridge OMIM:180500
Cutis Laxa, Autosomal Recessive, Type Ib
Prominence of the premaxilla, Abnormal pinna morphology, Low-set ears, Micrognathia OMIM:614437
Singleton-Merten Syndrome 1
Hypoplasia of the maxilla, Carious teeth, Eruption failure, Decreased body weight, Hypoplasia of ... OMIM:182250
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla OMIM:300106
Kabuki Syndrome
Failure to thrive, Sensorineural hearing impairment, Obesity, Protruding ear, Conductive hearing ... ORPHA:2322
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Natal tooth, Mixed hearing impairment, Micrognathia, Carious teeth, Wide nasal bridge, Severe sen... OMIM:620186
Kabuki Syndrome 1
Posteriorly rotated ears, Micrognathia, Wide nasal bridge, Protruding ear, Lateral ventricle dila... OMIM:147920

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Kmt2d

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Kmt2d.

No publications found that use IMPC mice or data for Kmt2d.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Kmt2dtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Kmt2dtm1(IMPC)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Kmt2dtm1.2(IMPC)Wtsi Reporter-tagged deletion allele (post Flp, with no reporter and selection cassette) Mice
Kmt2dtm403150(pL1L2_frt_BetactP_neo_frt_lox) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Kmt2dtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Kmt2dtm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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