Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
decreased body length Kmt2dtm1.2(IMPC)Wtsi HET Early adult 1.03×10-06
increased circulating amylase level Kmt2dtm1.2(IMPC)Wtsi HET Early adult 5.11×10-10
decreased circulating chloride level Kmt2dtm1.2(IMPC)Wtsi HET Early adult 1.13×10-08
decreased circulating sodium level Kmt2dtm1.2(IMPC)Wtsi HET   Early adult 2.58×10-05
decreased erythrocyte cell number Kmt2dtm1.2(IMPC)Wtsi HET   Early adult 7.07×10-07
decreased leukocyte cell number Kmt2dtm1.2(IMPC)Wtsi HET Early adult 5.25×10-05
increased circulating alkaline phosphatase level Kmt2dtm1.2(IMPC)Wtsi HET Early adult 3.82×10-07

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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.

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
Abnormal hemoglobin, Anemia, Increased circulating ferritin concentration ORPHA:231249
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia, Hyponatremia OMIM:616949
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia OMIM:214700
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Hyponatremia, Hyperuricemia, Anemia, Hypomagnesemia, Thrombocytopenia OMIM:613845
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Leukopenia, Hyponatremia, Hemophag... OMIM:267700
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Decreased serum creatinine OMIM:300539
Chorea, Benign Hereditary
Anxiety, Chorea, Gait disturbance OMIM:118700
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:610600
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Thrombocytopenia, Hyponatremia ORPHA:83601
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:203400
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Hyperactivity, Inability to walk, Gait disturbance, Tremor OMIM:618090
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Intellectual Developmental Disorder, Autosomal Recessive 68
Small for gestational age, Wide nasal bridge, Microcephaly, Hypoplasia of the maxilla, Protruding... OMIM:618302
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hyponatremia, Hypochloremia OMIM:613090
Dystonia With Ringbinden
Dystonia, Chorea, Gait disturbance OMIM:224550
Herpes Simplex Virus Encephalitis
Hyponatremia, Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:1930
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Leukopenia, Hepatosp... OMIM:603553
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia OMIM:614495
Porphyria Due To Ala Dehydratase Deficiency
Increased erythrocyte protoporphyrin concentration, Hyponatremia, Myeloproliferative disorder, Ab... ORPHA:100924
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:177735
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia OMIM:614736
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556037
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hyponatremia, Hypochloremia OMIM:602522
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556030
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Hyperchloremia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hyperchloremia OMIM:614496
X-Linked Intellectual Disability, Sutherland-Haan Type
Decreased body weight, Small for gestational age, Microcephaly, Hypoplasia of the maxilla, Macrot... ORPHA:93950
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia OMIM:618426
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anisocytosis, Reduced red cell pyruva... ORPHA:766
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior, Tremor OMIM:612716
Wolcott-Rallison Syndrome
Hyponatremia, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Hypoalbuminemia, Lymphocyt... ORPHA:1667
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hyperkalemia, Hypokalemia, Hyponatremia ORPHA:682
Central Diabetes Insipidus
Hyponatremia ORPHA:178029
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Sensorineural hearing impairment, Malar flattening, Short nose OMIM:122880
Snakebite Envenomation
Thrombocytopenia, Hyponatremia ORPHA:449285
Colchicine Poisoning
Hypokalemia, Leukocytosis, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Hypophos... ORPHA:31824
Necrotizing Enterocolitis
Neutropenia, Leukocytosis, Thrombocytopenia, Hyponatremia ORPHA:391673
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Mirage Syndrome
Hypoplastic spleen, Leukopenia, Hyponatremia, Hyperkalemia, Anemia, Lymphopenia, Thrombocytopenia OMIM:617053
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormality of the outer ear, Large earlobe, Absent tragus, Underdeveloped tragus, Low-set ears, ... ORPHA:79113
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia, Glucose intoleranc... OMIM:610947
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Anemia, Leukopenia, Thrombocytopenia OMIM:167850
Alg8-Cdg
Anemia, Thrombocytopenia, Hyponatremia ORPHA:79325
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:171876
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Schistocytosis, Hypokalemia, Leukocytosis, Elevated circulating creatinine concentration, Hyponat... ORPHA:90038
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Schistocytosis, Reticulocytosis, Macrocytic anemia,... ORPHA:3202
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia OMIM:141000
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormality of iron homeostasis, Anemia, Abnormal hemoglobin, Th... ORPHA:848
Neuroleptic Malignant Syndrome
Leukocytosis, Hyponatremia, Thrombocytosis, Hyperkalemia, Hypocalcemia, Hyperuricemia, Elevated c... ORPHA:94093
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia OMIM:613977
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Bartter Syndrome, Type 1, Antenatal
Hypokalemia, Hypercalcemia, Hypochloremia, Increased circulating renin level, Increased serum pro... OMIM:601678
Bartter Syndrome Type 4
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level, Hypomagnesemia ORPHA:89938
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia ORPHA:529799
Ch├ędiak-Higashi Syndrome
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Hepatosplenomegaly, ... ORPHA:167
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Microcephaly, Basal ganglia calcification, Hypoplasia of the maxilla OMIM:608432
X-Linked Intellectual Disability, Porteous Type
Decreased body weight, Cupped ear, Hypoplasia of the maxilla, Macrotia, Mandibular prognathia ORPHA:93945
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:427
Congenital Isolated Acth Deficiency
Hyponatremia ORPHA:199296
Alpha-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, Hypersplenism ORPHA:846
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hematopoiesis OMIM:615285
Legionnaires Disease
Hyponatremia, Lymphopenia, Splenomegaly ORPHA:549
Shigellosis
Leukocytosis, Hyponatremia, Abnormal blood ion concentration, Abscess, Microangiopathic hemolytic... ORPHA:810
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Porphyria Variegata
Anemia, Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79473
Bartter Syndrome, Type 2, Antenatal
Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Increased circulating renin level, ... OMIM:241200
Insulinomatosis And Diabetes Mellitus
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:147630
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Cognitive impairment, Conductive hearing impairment, ... ORPHA:90646
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Progressive microcephaly, Subcortical band heterotopia, Hypoplasia of the maxilla, Pachygyria, Hy... OMIM:618737
Late-Onset Isolated Acth Deficiency
Eosinophilia, Hyponatremia, Normocytic anemia, Hypercalcemia, Hyperuricemia, Macrocytic anemia ORPHA:199299
Hepatocellular Carcinoma
Hypokalemia, Hyponatremia, Hypercalcemia, Thrombocytosis, Anemia, Hyperbilirubinemia, Hypoalbumin... ORPHA:88673
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal lymphocyte morphology, Autoimmune thrombocytopenia, Hyponatremia, Severe B lymphocytopenia ORPHA:293978
Whipple Disease
Anemia, Splenomegaly, Hyponatremia ORPHA:3452
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Self-injurious behavior, Hyperactivity, Athetosis, Ataxia, Aggressive behavior, Chorea ORPHA:382
Microcephaly-Capillary Malformation Syndrome
Cerebral atrophy, Progressive microcephaly, Small for gestational age, Low-set ears, Hearing impa... OMIM:614261
Opticocochleodentate Degeneration
Cochlear degeneration, Mental deterioration, Hearing impairment OMIM:258700
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, ... ORPHA:95409
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypoalbuminemia, Hypertriglyceridemia, Hypomagnesemia OMIM:618183
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Acute Erythroid Leukemia
Pancytopenia, Anemia, Leukopenia, Erythroid hypoplasia ORPHA:318
Mandibulofacial Dysostosis With Alopecia
Cupped ear, Trismus, Low-set ears, Conductive hearing impairment, Wide nasal bridge, Micrognathia... OMIM:616367
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Cholera
Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Hyponatremia ORPHA:173
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemoly... ORPHA:90044
Adenohypophysitis
Normochromic anemia, Hyponatremia ORPHA:95512
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... OMIM:300835
Frontonasal Dysplasia 1
Hypoplastic frontal sinuses, Agenesis of corpus callosum, Low-set ears, Conductive hearing impair... OMIM:136760
Usher Syndrome Type 1
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal dental enamel morphology, Cer... ORPHA:231169
Cleft Velum
Hypoplasia of the maxilla, Conductive hearing impairment, Recurrent otitis media ORPHA:99772
20P12.3 Microdeletion Syndrome
Wide nasal bridge, Microtia, Hypoplasia of the maxilla, Malar flattening, Thickened helices ORPHA:261295
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Adrenal Hypoplasia, Congenital
Hyponatremia OMIM:300200
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... OMIM:600791
Addison Disease
Hyponatremia, Normocytic anemia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, ... ORPHA:85138
Infant Botulism
Hyponatremia ORPHA:178478
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Small for gestational age, Slender build, Sensorineural hearing impairment, Hypoplasia of the max... OMIM:608154
Pituitary Apoplexy
Normochromic anemia, Hyponatremia ORPHA:95613
Keipert Syndrome
Hypoplasia of the maxilla, Sensorineural hearing impairment, Cognitive impairment ORPHA:2662
Panhypophysitis
Normochromic anemia, Hyponatremia ORPHA:95513
Lysosomal Acid Lipase Deficiency
Hepatosplenomegaly, Hyponatremia, Vacuolated lymphocytes, Hypercholesterolemia, Hyperkalemia, Ane... ORPHA:275761
Alg12-Cdg
Hyponatremia, B lymphocytopenia, Hypoalbuminemia, Hypocholesterolemia, Thrombocytopenia ORPHA:79324
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:90791
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Agenesis of corpus callosum, Wide nasal bridge, Hypoplasia of the maxilla, Macrotia, Short nose OMIM:218000
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Sensorineural hearing impairment, Short nose ORPHA:1529
Aarskog-Scott Syndrome
Cognitive impairment, Delayed eruption of teeth, Wide nasal bridge, Hypoplasia of the maxilla, Lo... ORPHA:915
Branchiootic Syndrome 1
Cupped ear, Low-set ears, Sensorineural hearing impairment, Microtia, Cochlear malformation, Retr... OMIM:602588
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hyponatremia, Hypochloremia ORPHA:90794
Infection-Related Hemolytic Uremic Syndrome
Leukocytosis, Hyponatremia, Hyperkalemia, Hypocalcemia, Hemolytic anemia, Thrombocytopenia, Brain... ORPHA:544482
Lymphoproliferative Syndrome 1
Pancytopenia, Increased circulating ferritin concentration, Leukopenia, Autoimmune hemolytic anem... OMIM:613011
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Acrofacial Dysostosis, Cincinnati Type
Decreased body weight, Microtia, Micrognathia, Microcephaly, Hypoplasia of the maxilla, Macrotia,... OMIM:616462
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Bone Marrow Failure Syndrome 6
Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Cochlear aplasia... OMIM:619274
Juvenile Nephropathic Cystinosis
Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Hypocalcemia, Hypourice... ORPHA:411634
Familial Glucocorticoid Deficiency
Hyperkalemia, Hyponatremia ORPHA:361
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Sheehan Syndrome
Normochromic anemia, Hyponatremia ORPHA:91355
Maxillonasal Dysplasia
Hypoplasia of the maxilla, Short nose, Mandibular prognathia ORPHA:1248
Lujan-Fryns Syndrome
Low-set ears, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Hypoplasia of the maxilla,... ORPHA:776
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Microcephaly, Hypoplasia of the maxilla, Protruding ear ORPHA:85279
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Sensorineural hearing impairment, Short nose ORPHA:90653
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Obesity, Mandibular prognathia ORPHA:397973
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia ORPHA:90790
Japanese Encephalitis
Neutrophilia, Hyponatremia ORPHA:79139
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia OMIM:304800
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased HbA2 hemoglobin, Abnormality of iron ho... ORPHA:231222
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Erythrocytosis, Familial, 5
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 6
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617980
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Agenesis of corpus callosum, Sensorineural hearing impairment, Hypoplasia of the maxilla, Abnorma... OMIM:109120
8Q22.1 Microdeletion Syndrome
Underfolded helix, Low-set ears, Wide nasal bridge, Microcephaly, Hypoplasia of the maxilla, Abno... ORPHA:178303
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Apert Syndrome
Delayed eruption of teeth, Agenesis of corpus callosum, Conductive hearing impairment, Sensorineu... ORPHA:87
Oculodentodigital Dysplasia, Autosomal Recessive
Large earlobe, Long nose, Delayed eruption of teeth, Low-set ears, Hypoplasia of teeth, Micrognat... OMIM:257850
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Mohr-Tranebjaerg Syndrome
Vestibular dysfunction, Caudate atrophy, Prelingual sensorineural hearing impairment, Sensorineur... ORPHA:52368
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyperkalemia, Abnormal circulating cholesterol concentration, Hyponatremia, Increased circulating... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyperkalemia, Abnormal circulating cholesterol concentration, Hyponatremia, Increased circulating... ORPHA:289548
Cohen Syndrome
Small for gestational age, Micrognathia, Microcephaly, Hypoplasia of the maxilla, Thick corpus ca... OMIM:216550
Early-Onset Schizophrenia
Suicidal ideation, Unhappy demeanor, Anxiety, Anhedonia, Emotional lability, Irritability, Abnorm... ORPHA:96369
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Cupped ear, Wide nasal bridge, Low-set ears OMIM:167730
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Hypoplasia of the maxilla, Mandibular prognathia, Slender build OMIM:300676
Meier-Gorlin Syndrome 4
Low-set ears, Microtia, Micrognathia, Microcephaly, Hypoplasia of the maxilla, Failure to thrive OMIM:613804
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Sensorineural hearing impairment, Micrognathia, Hypoplasia of the maxi... OMIM:601812
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Split-Hand/Foot Malformation 3
Hypoplasia of the maxilla, Microretrognathia OMIM:246560
Familial Dysautonomia
Hyponatremia ORPHA:1764
Cleft Lip/Palate
Recurrent otitis media, Peg-shaped maxillary lateral incisors, Conductive hearing impairment, Abn... ORPHA:199306
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Progressive microcephaly, Agenesis of corpus callosum, Low-set ears, Hyperintensity of cerebral w... ORPHA:481152
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Acute Intermittent Porphyria
Hyponatremia ORPHA:79276
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla ORPHA:2776
Osteolysis Syndrome, Recessive
Hypoplasia of the maxilla OMIM:259610
Crouzon Syndrome
Hypoplasia of the maxilla, Conductive hearing impairment, Narrow internal auditory canal, Hearing... ORPHA:207
Pde4D Haploinsufficiency Syndrome
Hearing impairment, Obesity, Micrognathia, Hypoplasia of the maxilla, Malar flattening, Abnormal ... ORPHA:439822
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia OMIM:615508
Diamond-Blackfan Anemia 5
Reticulocytopenia, Leukopenia, Erythroid hypoplasia, Macrocytic anemia OMIM:612528
Lowry-Maclean Syndrome
Low-set ears, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Microcephaly, Hypoplasia o... ORPHA:2409
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Hyponatremia, Hypercholesterolemia, Hypoammonemia, Anemia, Hypophosphatemia, Thrombo... ORPHA:534
Holoprosencephaly
Hyponatremia, Abnormality of the spleen ORPHA:2162
Pseudohermaphroditism, Female, With Skeletal Anomalies
Short mandibular condyles, Hypoplasia of the maxilla OMIM:264270
Pyruvate Carboxylase Deficiency
Hypernatremia, Hypertaurinemia, Hyperlysinemia, Hyperprolinemia, Increased serum pyruvate, Elevat... ORPHA:3008
Dental Anomalies And Short Stature
Hypoplasia of the maxilla, Amelogenesis imperfecta, Mandibular prognathia OMIM:601216
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia OMIM:601809
Andersen Cardiodysrhythmic Periodic Paralysis
Low-set ears, Enamel hypoplasia, Prominent frontal sinuses, Antegonial notching of mandible, Micr... OMIM:170390
Autosomal Recessive Polycystic Kidney Disease
Hepatosplenomegaly, Increased serum bile acid concentration, Hyponatremia, Splenomegaly, Hyperspl... ORPHA:731
Hypermanganesemia With Dystonia 1
Unconjugated hyperbilirubinemia, Increased total iron binding capacity, Hypermanganesemia, Polycy... OMIM:613280
Cystinosis, Nephropathic
Hypokalemia, Hyponatremia, Hypophosphatemic rickets, Splenomegaly, Decreased plasma carnitine, Hy... OMIM:219800
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla OMIM:156510
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Long nose, Agenesis of corpus callosum, Low-set ears, Micrognathia, Hypoplasia of the maxilla, Ab... OMIM:309520
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Decreased body weight, Micrognathia, Microcephaly, Hypoplasia of the maxilla, Failure to thrive, ... OMIM:300534
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Conductive hearing impairment, Malar flattening ORPHA:93262
Van Maldergem Syndrome 1
Conductive hearing impairment, Sensorineural hearing impairment, Atresia of the external auditory... OMIM:601390
Meier-Gorlin Syndrome 5
Small earlobe, Low-set ears, Microtia, Micrognathia, Microcephaly, Hypoplasia of the maxilla, Fai... OMIM:613805
Pycnodysostosis
Cerebral dysmyelination, Enamel hypoplasia, Persistence of primary teeth, Carious teeth, Microgna... ORPHA:763
Mody
Large for gestational age, Glycosuria, Neonatal hypoglycemia, Obesity, Overweight, Insulin-resist... ORPHA:552
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla OMIM:300266
Acrodysostosis
Delayed eruption of teeth, Hearing impairment, Wide nasal bridge, Hypoplasia of the maxilla, Mand... ORPHA:950
Erythrocytosis, Familial, 8
Normocytic anemia, Splenomegaly, Nonspherocytic hemolytic anemia, Polycythemia, Normochromic anemia OMIM:222800
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Micrognathia OMIM:166300
Nablus Mask-Like Facial Syndrome
Low-set ears, Wide nasal bridge, Hypoplasia of the maxilla, Posteriorly rotated ears, Retrognathi... OMIM:608156
Marshall Syndrome
Cerebral calcification, Hypoplastic frontal sinuses, Sensorineural hearing impairment, Wide nasal... ORPHA:560
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Hypoplasia of the maxilla, Microretrognathia, Posteriorly rotated ears, Abnormal pinna morphology ORPHA:228396
Dominant Beta-Thalassemia
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, Splenomega... ORPHA:231226
Van Maldergem Syndrome 2
Conductive hearing impairment, Sensorineural hearing impairment, Atresia of the external auditory... OMIM:615546
Beta-Thalassemia Major
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Abnormalit... ORPHA:231214
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum, Conductive hearing impairment, Wide nasa... ORPHA:314679
Aarskog-Scott Syndrome
Large earlobe, Elevated circulating luteinizing hormone level, Wide nasal bridge, Hypoplasia of t... OMIM:305400
Deafness, X-Linked 2
Conductive hearing impairment, Progressive sensorineural hearing impairment, Congenital sensorine... OMIM:304400
Nager Syndrome
Atresia of the external auditory canal, Microtia, Micrognathia, Hypoplasia of the maxilla, Low-se... ORPHA:245
Malan Syndrome
Hypoplasia of the corpus callosum, Hyperplasia of the premaxilla, Mandibular prognathia, Retrogna... OMIM:614753
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231183
Dislocation Of The Hip-Dysmorphism Syndrome
Hearing abnormality, Malar flattening, Prominence of the premaxilla, Wide nasal bridge ORPHA:2412
Carpenter Syndrome 1
Cerebral atrophy, Low-set ears, Aplasia/Hypoplasia of the corpus callosum, Conductive hearing imp... OMIM:201000
Acrocephalopolysyndactyly Type Iii
Hypoplasia of the maxilla, Low-set ears, Malar flattening, Mandibular prognathia OMIM:101120
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Mandibular prognathia ORPHA:1540
Immunodeficiency 82 With Systemic Inflammation
T lymphocytopenia, Decreased proportion of naive T cells, Splenomegaly, Elevated circulating C-re... OMIM:619381
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Eunuchoid habitus, Hypoplasia of the maxilla, Ele... ORPHA:3044
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Malar flattening, Micrognathia OMIM:241310
Hypohidrotic Ectodermal Dysplasia
Hypoplasia of the maxilla, Sinusitis, Failure to thrive, Cognitive impairment ORPHA:238468
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Distal Monosomy 10Q
Abnormality of the outer ear, Low-set ears, Cavum septum pellucidum, Wide nasal bridge, Micrognat... ORPHA:96148
Distal Limb Deficiencies-Micrognathia Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Hypoplasia of the maxilla, Low-s... ORPHA:1307
Gorham-Stout Disease
Abnormality of the internal auditory canal, Mandibular pain, Abnormality of the temporomandibular... ORPHA:73
Goldberg-Shprintzen Syndrome
Low-set ears, Wide nasal bridge, Microcephaly, Hypoplasia of the maxilla, Pachygyria, Hypoplasia ... OMIM:609460
Axenfeld-Rieger Syndrome
Hypoplasia of the maxilla, Wide nasal bridge, Hearing impairment ORPHA:782
Axenfeld-Rieger Syndrome, Type 2
Hypoplasia of the maxilla, Hearing impairment, Wide nasal bridge, Mandibular prognathia OMIM:601499
Angelman Syndrome
Obesity, Hypoplasia of the maxilla, Cerebral cortical atrophy, Mandibular prognathia, Secondary m... OMIM:105830
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Aplasia of the semicircular canal, Dilated vestibule of the inn... OMIM:611584
Frontorhiny
Congenital conductive hearing impairment, Hypoplastic frontal sinuses, Aplasia/Hypoplasia of the ... ORPHA:391474
Craniosynostosis And Dental Anomalies
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of teeth OMIM:614188
Distal Xq28 Microduplication Syndrome
Microcephaly, Hypoplasia of the maxilla, Microtia, Absent antihelix ORPHA:293939
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperlipidemia, Hyponatremia ORPHA:293987
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Macrocytic anemia OMIM:612561
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Temtamy Preaxial Brachydactyly Syndrome
Severe sensorineural hearing impairment, Low-set ears, Micrognathia, Hypoplasia of the maxilla, T... ORPHA:363417
Holoprosencephaly 9
Abnormal cortical gyration, Dental malocclusion, Underdeveloped tragus, Prominent antihelix, Ante... OMIM:610829
Saethre-Chotzen Syndrome
Low-set ears, Prominent crus of helix, Conductive hearing impairment, Sensorineural hearing impai... ORPHA:794
Acrodysostosis 1 With Or Without Hormone Resistance
Delayed eruption of teeth, Small for gestational age, Hypoplasia of the maxilla, Elevated circula... OMIM:101800
Coffin-Lowry Syndrome
Delayed eruption of teeth, Aplasia/Hypoplasia of the corpus callosum, Craniofacial hyperostosis, ... ORPHA:192
Nasopalpebral Lipoma-Coloboma Syndrome
Cupped ear, Low-set ears, Abnormality of cartilage of external ear, Microcephaly, Hypoplasia of t... ORPHA:2399
Dysostosis, Stanescu Type
Cerebral calcification, Carious teeth, Microcephaly, Hypoplasia of the maxilla, Abnormal dental e... ORPHA:1798
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Agenesis of corpus callosum, Mandibular aplasia, Low-set, posteriorly rotated ears, Narrow intern... ORPHA:990
Martsolf Syndrome 1
Micrognathia, Microcephaly, Hypoplasia of the maxilla, Prominent antitragus, Posteriorly rotated ... OMIM:212720
Choreoacanthocytosis
Aggressive behavior, Apathy, Hair-pulling, Impaired vibratory sensation, Hyperactivity, Laryngeal... ORPHA:2388
Treacher-Collins Syndrome
Conductive hearing impairment, Wide nasal bridge, Microtia, Micrognathia, Hypoplasia of the maxil... ORPHA:861
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Short nose OMIM:137550
Bor Syndrome
Hearing impairment, Atresia of the external auditory canal, Enlarged cochlear aqueduct, External ... ORPHA:107
Ear-Patella-Short Stature Syndrome
Abnormality of the outer ear, Low-set ears, Atresia of the external auditory canal, Micrognathia,... ORPHA:2554
Subaortic Stenosis--Short Stature Syndrome
Low-set ears, Wide nasal bridge, Hypoplasia of the maxilla, Malar flattening, Short nose OMIM:271960
Mohr Syndrome
Conductive hearing impairment, Agenesis of central incisor, Porencephalic cyst, Micrognathia, Hyp... OMIM:252100
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin ORPHA:98791
Atelosteogenesis, Type Iii
Hypoplasia of the maxilla, Malar flattening, Micrognathia OMIM:108721
Meier-Gorlin Syndrome 3
Low-set ears, Microtia, Micrognathia, Microcephaly, Hypoplasia of the maxilla, Failure to thrive,... OMIM:613803
Cohen Syndrome
Failure to thrive in infancy, Sensorineural hearing impairment, Obesity, Micrognathia, Microcepha... ORPHA:193
Shprintzen-Goldberg Syndrome
Low-set ears, Conductive hearing impairment, Micrognathia, Microcephaly, Hypoplasia of the maxill... ORPHA:2462
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Aplasia/Hypoplasia of the frontal sinuses, Agenesis of corpus callosum, Conductive hearing impair... ORPHA:306542
Kagami-Ogata Syndrome
Hypoplasia of the maxilla, Microtia, Micrognathia, Retrognathia OMIM:608149
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Large for gestational age, Low-set ears, Micrognathia, Microcephaly, Hypoplasia of the maxilla, L... OMIM:213980
Crouzon Syndrome
Hypoplasia of the maxilla, Conductive hearing impairment, Atresia of the external auditory canal,... OMIM:123500
Pendred Syndrome
Sensorineural hearing impairment, Hypoplasia of the cochlea, Abnormality of the inner ear, Enlarg... ORPHA:705
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypoplasia of the maxilla, Conductive hearing impairment, Atresia of the external auditory canal,... OMIM:106260
Branchiootorenal Syndrome 1
Cupped ear, Incomplete partition of the cochlea type II, Conductive hearing impairment, Abnormal ... OMIM:113650
Pfeiffer Syndrome
Hypoplasia of the maxilla, Short nose, Mandibular prognathia OMIM:101600
Meier-Gorlin Syndrome 1
Incomplete partition of the cochlea type II, Small for gestational age, Low-set ears, Atresia of ... OMIM:224690
Geroderma Osteodysplasticum
Microcephaly, Malar flattening, Hypoplasia of the maxilla, Mandibular prognathia OMIM:231070
Andersen-Tawil Syndrome
Low-set ears, Wide nasal bridge, Micrognathia, Hypoplasia of the maxilla, Abnormality of dental c... ORPHA:37553
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Underdeveloped tragus, Conductive hearing impairment, Sensorineural hea... ORPHA:50815
Shwachman-Diamond Syndrome 1
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Persistence of hemoglobin F, Thrombocy... OMIM:260400
Cowden Syndrome 1
Hypoplasia of the maxilla, Hearing impairment, Hemimegalencephaly, Micrognathia OMIM:158350
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Hypoplasia of the maxilla, Low-set ears OMIM:211370
Blackfan-Diamond Anemia
Leukopenia, Thrombocytosis, Erythroid hypoplasia, Acute myeloid leukemia, Elevated red cell adeno... ORPHA:124
Hartsfield Syndrome
Hypernatremia OMIM:615465
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Marshall-Smith Syndrome
Cerebral atrophy, Decreased body weight, Agenesis of corpus callosum, Low-set ears, Hearing impai... OMIM:602535
Cardioacrofacial Dysplasia 1
Hypoplasia of the maxilla OMIM:619142
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Zttk Syndrome
Dysplastic corpus callosum, Low-set ears, Wide nasal bridge, Hypoplasia of the maxilla, Failure t... OMIM:617140
Cowden Syndrome 5
Hypoplasia of the maxilla, Hearing impairment, Micrognathia OMIM:615108
Thymoma
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Brachytelephalangic Chondrodysplasia Punctata
Hypoplasia of the maxilla, Mixed hearing impairment, Short nose, Hypoplasia of the anterior nasal... ORPHA:79345
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cerebral dysmyelination, Cerebral atrophy, Sensorineural hearing impairment, Absent brainstem aud... OMIM:609136
Elsahy-Waters Syndrome
Delayed eruption of teeth, Low-set ears, Wide nasal bridge, Hypoplasia of the maxilla, Malar flat... OMIM:211380
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
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:141750
Shprintzen-Goldberg Craniosynostosis Syndrome
Conductive hearing impairment, Micrognathia, Microcephaly, Hypoplasia of the maxilla, Low-set, po... OMIM:182212
Xq21 Microdeletion Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Obesity, Anterior hypopituitaris... ORPHA:1435
Lead Poisoning
Imbalanced hemoglobin synthesis, Anemia, Increased LDL cholesterol concentration, Abnormal T cell... ORPHA:330015
Rapp-Hodgkin Syndrome
Hypoplasia of the maxilla, Recurrent otitis media, Hearing impairment OMIM:129400
Distal Monosomy 19P13.3
Hypoplasia of the maxilla, Conductive hearing impairment, Sensorineural hearing impairment, Low-s... ORPHA:96129
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Charge Syndrome
Delayed eruption of teeth, Anterior hypopituitarism, Microtia, Microcephaly, External ear malform... ORPHA:138
Noonan Syndrome
Sensorineural hearing impairment, Aplasia of the semicircular canal, Micrognathia, Low-set, poste... ORPHA:648
Myhre Syndrome
Small for gestational age, Low-set ears, Obesity, Microtia, Microcephaly, Hypoplasia of the maxil... OMIM:139210
Stickler Syndrome
Slender build, Hearing impairment, Sensorineural hearing impairment, Micrognathia, Hypoplasia of ... ORPHA:828
Van Den Ende-Gupta Syndrome
Hypoplasia of the maxilla, Malar flattening, Protruding ear OMIM:600920
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Dysplastic corpus callosum, Dilation of lateral ventricles, Failure to thrive in infancy, Low-set... ORPHA:500150
Craniolenticulosutural Dysplasia
Hypoplasia of the maxilla, Carious teeth, Delayed eruption of teeth, Hypoplasia of teeth ORPHA:50814
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:301040
Branchioskeletogenital Syndrome
Large earlobe, Carious teeth, Microcephaly, Abnormal dentin morphology, Hypoplasia of the maxilla... ORPHA:1299
Microphthalmia With Limb Anomalies
Large earlobe, Hypoplasia of the premaxilla, Micrognathia, Hypoplasia of the maxilla, Low-set, po... ORPHA:1106
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
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Hypoplasia of the maxilla, Abnormality of the ear, Mandibular prognathia ORPHA:1101
Myhre Syndrome
Craniofacial hyperostosis, Hearing impairment, Hypoplasia of the maxilla, Mandibular prognathia ORPHA:2588
Dyskeratosis Congenita
Cerebral calcification, Carious teeth, Hypoplasia of the maxilla, Taurodontia, Hearing impairment ORPHA:1775
Schinzel-Giedion Syndrome
Large earlobe, Abnormality of the outer ear, Delayed eruption of teeth, Failure to thrive in infa... ORPHA:798
Bartsocas-Papas Syndrome 1
Cupped ear, Low-set ears, Microtia, Micrognathia, Hypoplasia of the maxilla, Short nose OMIM:263650
Floating-Harbor Syndrome
Long nose, Small for gestational age, Low-set ears, Conductive hearing impairment, Carious teeth,... ORPHA:2044
Rubinstein-Taybi Syndrome 1
Agenesis of corpus callosum, Low-set ears, Enamel hypoplasia, Wide nasal bridge, Micrognathia, Tr... OMIM:180849
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Large for gestational age, Wide nasal bridge, Microtia, Micrognathia, Microcephaly, Lissencephaly... ORPHA:96334
Saethre-Chotzen Syndrome
Long nose, Low-set ears, Prominent crus of helix, Cleft of chin, Microtia, Hypoplasia of the maxi... OMIM:101400
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Hypoplasia of the maxilla, Taurodontia, Short nose OMIM:305100
Greenberg Dysplasia
Hypoplasia of the maxilla, Low-set ears, Micrognathia, Retrognathia OMIM:215140
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Central diabetes insipidus, Carious teeth, Microtia, Hypoplasia of the maxilla, Malar flattening,... OMIM:604292
Peters-Plus Syndrome
Cerebral atrophy, Decreased body weight, Agenesis of corpus callosum, Low-set ears, Microtia, sec... OMIM:261540
Charge Syndrome
Gonadotropin deficiency, Cupped ear, Low-set ears, Sensorineural hearing impairment, Aplasia of t... OMIM:214800
Aicardi Syndrome
Cavum septum pellucidum, Dilated third ventricle, Prominence of the premaxilla, Microcephaly, Par... OMIM:304050
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Hyperactivity, Irritability ORPHA:447997
Aicardi Syndrome
Prominence of the premaxilla, Microcephaly, Partial agenesis of the corpus callosum, Pachygyria, ... ORPHA:50
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Central diabetes insipidus, Conductive hearing impairment, Carious teeth, Microtia, Microcephaly,... OMIM:129900
Ablepharon Macrostomia Syndrome
Atresia of the external auditory canal, Microtia, Hypoplasia of the maxilla, Hypoplasia of the zy... ORPHA:920
Trichotillomania
Hair-pulling OMIM:613229
3Mc Syndrome 2
Prominence of the premaxilla, Wide nasal bridge, Hearing impairment OMIM:265050
Weill-Marchesani Syndrome 2
Hypoplasia of the maxilla, Thickened helices OMIM:608328
Axenfeld-Rieger Syndrome, Type 1
Hypoplasia of the maxilla, Decreased response to growth hormone stimulation test, Wide nasal bridge OMIM:180500
Weill-Marchesani Syndrome 1
Hypoplasia of the maxilla OMIM:277600
Primrose Syndrome
Cerebral calcification, Superiorly displaced ears, Truncal obesity, Hypoplasia of the maxilla, Ma... OMIM:259050
Craniofacial Microsomia
Underdeveloped tragus, Agenesis of corpus callosum, Unilateral external ear deformity, Maxillozyg... OMIM:164210
Norrie Disease
Abnormality of the diencephalon, Abnormal helix morphology, Sensorineural hearing impairment, Mic... ORPHA:649
Monosomy 22Q13.3
Impaired pain sensation, Hair-pulling, Hyperactivity ORPHA:48652
Cutis Laxa, Autosomal Recessive, Type Ib
Microcephaly, Low-set ears, Prominence of the premaxilla, Micrognathia OMIM:614437
Aarskog Syndrome, Autosomal Dominant
Hypoplasia of the maxilla, Wide nasal bridge, Lop ear OMIM:100050
Singleton-Merten Syndrome 1
Decreased body weight, Carious teeth, Eruption failure, Hypoplasia of the tooth germ, Hypoplasia ... OMIM:182250
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla OMIM:300106
Kabuki Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Obesity, Microcephaly, Failure t... ORPHA:2322
Kabuki Syndrome 1
Autoimmune thrombocytopenia, Hemolytic anemia 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.

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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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