Gene Summary

Name:
lysine (K)-specific methyltransferase 2D
Synonyms:
bapa,  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 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
decreased circulating chloride level Kmt2dtm1.2(IMPC)Wtsi HET Early adult 1.13×10-08
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

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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
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Bartter Syndrome, Type 5, Antenatal, Transient
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia OMIM:300971
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Impulsivity, Gait ataxia, Dystonia, Dysphagia OMIM:620448
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Diarrhea 1, Secretory Chloride, Congenital
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia 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
Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri... OMIM:205950
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Anemia, Pancytopenia, Hyperuricemia, Increased blood urea nitrogen, Hyponatremia, Thrombocytopeni... OMIM:613845
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Anemia, Hemophagocytosis, Increase... OMIM:267700
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:620126
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperkalemia, Hyponatremia, 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
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Thrombocytopenia, Leukocytosis ORPHA:83601
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:610600
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:203400
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... OMIM:300539
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia OMIM:620152
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypochloremia, Hyponatremia, Hyperchloriduria, Hypokalemia OMIM:613090
Beta-Thalassemia, Dominant Inclusion Body Type
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... OMIM:603902
Ataxia, Sensory, 1, Autosomal Dominant
Abnormal vestibulo-ocular reflex, Gait instability, worse in the dark, Impaired distal propriocep... OMIM:608984
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Decreased circulating renin level, Hyperchloremia OMIM:614492
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Hypoproteinemia, Increased total bi... OMIM:603553
Herpes Simplex Virus Encephalitis
Hyponatremia, Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:1930
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia OMIM:614495
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:177735
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556037
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Porphyria Due To Ala Dehydratase Deficiency
Increased erythrocyte protoporphyrin concentration, Myeloproliferative disorder, Abnormal erythro... ORPHA:100924
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hyperchloremia OMIM:614496
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Juvenile Huntington Disease
Irritability, Progressive cerebellar ataxia, Broad-based gait, Hyperactivity, Chorea, Depression,... ORPHA:248111
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556030
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hypocalcemia, Leukocytosis, Hyponatremia, ... ORPHA:247353
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Abnormal semicircular canal morphology, Absent vesti... OMIM:618013
Central Diabetes Insipidus
Hyponatremia ORPHA:178029
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Resting tremor, Hyperac... ORPHA:3077
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Hypoalbu... ORPHA:1667
Hyperkalemic Periodic Paralysis
Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration, Hypokalemia ORPHA:682
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Snakebite Envenomation
Hyponatremia, Thrombocytopenia ORPHA:449285
Mirage Syndrome
Hyperkalemia, Anemia, Hyponatremia, Hypoplastic spleen, Thrombocytopenia, Leukopenia, Lymphopenia OMIM:617053
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response OMIM:617028
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Colchicine Poisoning
Hypokalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal... ORPHA:31824
Alg8-Cdg
Hyponatremia, Thrombocytopenia, Anemia ORPHA:79325
Intellectual Developmental Disorder, Autosomal Recessive 68
Protruding ear, Wide nasal bridge, Small for gestational age, Hypoplasia of the maxilla OMIM:618302
Bartter Syndrome Type 4
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia, Hypomagnesemia ORPHA:89938
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypochloremia, Hyponatremia, Hyperchloriduria, Hypokalemia OMIM:602522
Generalized Pseudohypoaldosteronism Type 1
Increased circulating renin level, Hyponatremia, Hyperkalemia ORPHA:171876
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Reduced haptoglobin level, Hyperbilirubinemia, Anemia of inadequate p... OMIM:613673
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Decreased body weight, Hypoplasia of the maxilla, Macrotia, Small for gest... ORPHA:93950
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemia, Hyponatremia, Thromb... ORPHA:90038
Hemochromatosis, Type 5
Abnormal circulating transferrin concentration, Anemia, Abnormal circulating ceruloplasmin concen... OMIM:615517
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Increased circula... OMIM:601678
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia OMIM:614736
Beta-Thalassemia
Abnormality of iron homeostasis, Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Mic... ORPHA:848
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyperuricemia, Hypocalcemia, Leukocytosis, Elevated circulating creatine kinase con... ORPHA:94093
Necrotizing Enterocolitis
Hyponatremia, Thrombocytopenia, Leukocytosis, Neutropenia ORPHA:391673
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Mandibulofacial Dysostosis-Microcephaly Syndrome
Short nose, Abnormal middle ear morphology, Abnormal antihelix morphology, Microtia, Underdevelop... ORPHA:79113
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia ORPHA:529808
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Decreased body weight, Hypoplasia of the maxilla, Macrotia, Cupped ear ORPHA:93945
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia ORPHA:529799
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Renal Hypoplasia, Bilateral
Hyperkalemia, Hyponatremia, Anemia ORPHA:97362
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Congenital Isolated Acth Deficiency
Hyponatremia ORPHA:199296
Ch├ędiak-Higashi Syndrome
Hypertriglyceridemia, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancyto... ORPHA:167
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:427
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia OMIM:620157
Porphyria Variegata
Hyponatremia, Abnormal circulating porphyrin concentration, Anemia ORPHA:79473
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Increased circula... OMIM:241200
Aica-Ribosiduria Due To Atic Deficiency
Hyponatremia OMIM:608688
Legionnaires Disease
Hyponatremia, Splenomegaly, Lymphopenia ORPHA:549
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Shigellosis
Splenic abscess, Leukocytosis, Hyponatremia, Thrombocytopenia, Microangiopathic hemolytic anemia,... ORPHA:810
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Macrocytic anemia, Hyperuricemia, Hyponatremia, Hypercalcemia, Eosinophilia ORPHA:199299
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Progressive sensorineural hearing impairment, Abnorma... ORPHA:90646
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia OMIM:185020
Mandibulofacial Dysostosis With Alopecia
Stenosis of the external auditory canal, Microtia, Low-set ears, Hypoplasia of the maxilla, Condu... OMIM:616367
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Whipple Disease
Hyponatremia, Anemia, Splenomegaly ORPHA:3452
Opticocochleodentate Degeneration
Hearing impairment, Cochlear degeneration, Mental deterioration OMIM:258700
Acute Adrenal Insufficiency
Hyperkalemia, Normocytic anemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, ... ORPHA:95409
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Deafness, Autosomal Dominant 87
Hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochlea type II OMIM:620281
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia, Hemolytic anemia OMIM:609153
Adenohypophysitis
Hyponatremia, Normochromic anemia ORPHA:95512
Keipert Syndrome
Hypoplasia of the maxilla, Sensorineural hearing impairment, Cognitive impairment ORPHA:2662
Cholera
Abnormal blood ion concentration, Hyponatremia, Hypokalemia, Hypocalcemia ORPHA:173
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stom... ORPHA:90044
20P12.3 Microdeletion Syndrome
Microtia, Hypoplasia of the maxilla, Malar flattening, Thickened helices, Wide nasal bridge ORPHA:261295
Adrenal Hypoplasia, Congenital
Hyponatremia OMIM:300200
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment, Abnormal cochlea morphology OMIM:618778
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Severe B lymphocytopenia ORPHA:293978
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Sensorineural hearing impairment, Hypoplasia of the maxilla, Failure to thrive, Slender build, Sm... OMIM:608154
Panhypophysitis
Hyponatremia, Normochromic anemia ORPHA:95513
Lujan-Fryns Syndrome
Low-set ears, Attention deficit hyperactivity disorder, Hypoplasia of the maxilla, Micrognathia, ... ORPHA:776
Alg12-Cdg
B lymphocytopenia, Hyponatremia, Thrombocytopenia, Hypoalbuminemia, Hypocholesterolemia ORPHA:79324
Frontonasal Dysplasia 1
Low-set ears, Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Conductive hearing impairme... OMIM:136760
Aarskog-Scott Syndrome
Low-set, posteriorly rotated ears, Delayed eruption of teeth, Abnormal pinna morphology, Cognitiv... ORPHA:915
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Hyperkalemia, Anemia, Vacuolated lymphocytes, Bone-marrow foam cells, Hypon... ORPHA:275761
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating renin level, Hyponatremia, Hyperkalemia ORPHA:90791
7Q31 Microdeletion Syndrome
Childhood onset sensorineural hearing impairment, Low-set ears, Short attention span, Hypoplasia ... ORPHA:251061
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Elevated circulating C-reactive protein co... OMIM:613011
Deafness, Autosomal Dominant 86
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:620280
Deafness, Autosomal Dominant 44
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:607453
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Hypokalemia, Hypocalcemia, Hyponatremia, Splenomegaly OMIM:617913
Addison Disease
Hyperkalemia, Normocytic anemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, ... ORPHA:85138
Infant Botulism
Hyponatremia ORPHA:178478
Pituitary Apoplexy
Hyponatremia, Normochromic anemia ORPHA:95613
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hyponatremia, Hypochloremia ORPHA:90794
Branchiootic Syndrome 1
Retrognathia, Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears,... OMIM:602588
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Sensorineural hearing impairment, Short nose ORPHA:1529
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia OMIM:618849
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatosplenomegaly, Splenomegaly,... ORPHA:846
Split-Hand/Foot Malformation 3
Hypoplasia of the maxilla, Abnormal pinna morphology, Microretrognathia OMIM:246560
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Thrombocytopenia, Hemolytic anemia, Brain... ORPHA:544482
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Deafness, Autosomal Dominant 80
Cochlear aplasia, Abnormal semicircular canal morphology, Dilated vestibule of the inner ear, Con... OMIM:619274
Rabin-Pappas Syndrome
Hyponatremia OMIM:620155
Familial Glucocorticoid Deficiency
Hyperkalemia, Hyponatremia ORPHA:361
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... ORPHA:232
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Short nose, Hypoplasia of the maxilla, Macrotia, Agenesis of corpus callosum, Wide nasal bridge OMIM:218000
Juvenile Nephropathic Cystinosis
Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Hypophosphatemia, Hypocalcemic tetany, Ele... ORPHA:411634
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperalaninemia, Hyperammonemia, Hypoornithinemia, Hypernatremia, Hyperprolinemia, Low plasma cit... OMIM:615751
Combined Oxidative Phosphorylation Deficiency 3
Hyperammonemia, Hyponatremia, Elevated circulating creatine kinase concentration OMIM:610505
Maxillonasal Dysplasia
Hypoplasia of the maxilla, Short nose, Mandibular prognathia ORPHA:1248
Sheehan Syndrome
Hyponatremia, Normochromic anemia ORPHA:91355
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Sensorineural hearing impairment, Short nose ORPHA:90653
Japanese Encephalitis
Hyponatremia, Neutrophilia ORPHA:79139
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Hypoplasia of the maxilla, Mandibular prognathia, Slender build OMIM:300676
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Obesity ORPHA:397973
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Erythrocytosis, Familial, 5
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617907
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Anemia of inadequate production, Leukocytosis, Persistence of he... ORPHA:231222
Deafness, Autosomal Dominant 77
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus OMIM:618915
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia ORPHA:90790
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia OMIM:304800
Erythrocytosis, Familial, 4
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:611783
Erythrocytosis, Familial, 7
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 6
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617980
Microcephaly-Capillary Malformation Syndrome
Short nose, Low-set ears, Hearing impairment, Failure to thrive, Hypoplasia of the maxilla, Small... OMIM:614261
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:609820
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypoplasia of the maxilla,... OMIM:109120
Apert Syndrome
Delayed eruption of teeth, Sensorineural hearing impairment, Mandibular prognathia, Hypoplasia of... ORPHA:87
Usher Syndrome Type 1
Abnormal dental enamel morphology, Sensorineural hearing impairment, Vestibular hypofunction, Abn... ORPHA:231169
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla ORPHA:2776
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Hearing impairment, Failure to thrive, Micrognathia, Hypoplasia of the maxilla OMIM:301108
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Protruding ear, Hypoplasia of the maxilla OMIM:618737
Cleft Lip/Palate
Recurrent otitis media, Peg-shaped maxillary lateral incisors, Hypoplasia of the maxilla, Conduct... ORPHA:199306
Choreoacanthocytosis
Socially inappropriate behavior, Hair-pulling, Hyperactivity, Chorea, Head-banging, Lingual dysto... ORPHA:2388
Familial Dysautonomia
Hyponatremia ORPHA:1764
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Low-set ears, Hearing impairment, Macrotia, Hypoplasia of the maxilla, Failure to thrive, Agenesi... ORPHA:481152
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Increased circulating renin level, Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol c... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Increased circulating renin level, Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol c... ORPHA:289548
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Oculodentodigital Dysplasia, Autosomal Recessive
Long nose, Hypoplasia of the primary teeth, Delayed eruption of teeth, Low-set ears, Hypoplasia o... OMIM:257850
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Low-set ears, Wide nasal bridge, Cupped ear OMIM:167730
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia OMIM:601809
Crouzon Syndrome
Hearing impairment, Conductive hearing impairment, Hypoplasia of the maxilla, Narrow internal aud... ORPHA:207
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Liver Disease, Severe Congenital
Anemia, Lymphocytosis, Hyperbilirubinemia, Hypocalcemia, Hypoproteinemia, Hyperalaninemia, Hypona... OMIM:619991
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia OMIM:618252
Mody
Large for gestational age, Neonatal hypoglycemia, Hypoinsulinemia, Glycosuria, Overweight, Obesit... ORPHA:552
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Mandibular prognathia, Hypoplasia of the maxilla OMIM:601216
Cystinosis, Nephropathic
Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nitrogen, Decreased circulating carniti... OMIM:219800
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyperkalemia, Hyponatremia OMIM:201810
Mohr-Tranebjaerg Syndrome
Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing impairment, Sensor... ORPHA:52368
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Protruding ear, Hypoplasia of the maxilla ORPHA:85279
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypernatremia, Hyperglycinemia, Thrombocytopenia OMIM:620423
Aarskog-Scott Syndrome
Short nose, Attention deficit hyperactivity disorder, Hypoplasia of the maxilla, Failure to thriv... OMIM:305400
Oculocerebrorenal Syndrome Of Lowe
Anemia, Hypokalemia, Hyponatremia, Thrombocytopenia, Hypophosphatemia, Hypercholesterolemia, Hypo... ORPHA:534
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles OMIM:264270
Acute Intermittent Porphyria
Hyponatremia ORPHA:79276
Pde4D Haploinsufficiency Syndrome
Short nose, Abnormal dental enamel morphology, Mandibular prognathia, Hearing impairment, Hypopla... ORPHA:439822
Cleft Velum
Hypoplasia of the maxilla, Conductive hearing impairment, Recurrent otitis media ORPHA:99772
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Polycythemia, Increased total iron binding capacity, Unconjugated hyperbilirub... OMIM:613280
Holoprosencephaly
Hyponatremia, Abnormality of the spleen ORPHA:2162
8Q22.1 Microdeletion Syndrome
Abnormal antihelix morphology, Abnormal pinna morphology, Low-set ears, Hypoplasia of the maxilla... ORPHA:178303
Pyruvate Carboxylase Deficiency
Hypertaurinemia, Elevated plasma citrulline, Hyperglutamatemia, Increased serum pyruvate, Hyperal... ORPHA:3008
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla OMIM:156510
Autosomal Recessive Polycystic Kidney Disease
Increased serum bile acid concentration, Hyponatremia, Thrombocytopenia, Hepatosplenomegaly, Sple... ORPHA:731
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Hypokalemia OMIM:618426
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Conductive hearing impairment, Malar flattening ORPHA:93262
Ziegler-Huang Syndrome
Persistence of hemoglobin F, Macrocytic anemia, Neutropenia OMIM:620501
Distal Xq28 Microduplication Syndrome
Attention deficit hyperactivity disorder, Absent antihelix, Microtia, Hypoplasia of the maxilla ORPHA:293939
Immunodeficiency 82 With Systemic Inflammation
Anemia, Elevated circulating C-reactive protein concentration, B lymphocytopenia, Decreased propo... OMIM:619381
Usher Syndrome Type 3
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology ORPHA:231183
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla OMIM:300266
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Micrognathia OMIM:166300
Nager Syndrome
Low-set, posteriorly rotated ears, Microtia, Hearing impairment, Atresia of the external auditory... ORPHA:245
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Meier-Gorlin Syndrome 4
Microtia, Low-set ears, Hypoplasia of the maxilla, Failure to thrive, Micrognathia OMIM:613804
Intellectual Developmental Disorder, Autosomal Dominant 38
Hair-pulling, Ataxia, Motor stereotypy, Self-injurious behavior, Bruxism, Aggressive behavior OMIM:616393
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hypochromic microcytic anemia, Decreased mean corpuscular hemogl... ORPHA:231226
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Hypoplasia of the maxilla, Abnormal pinna morphology, Posteriorly rotated ears, Microretrognathia ORPHA:228396
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Long nose, Low-set ears, Hypoplasia of the maxilla, Micrognathia, Agenesis of corpus callosum, Ab... OMIM:309520
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Sensorineural hearing impairment, Short nose, Malar flattening OMIM:122880
Dislocation Of The Hip-Dysmorphism Syndrome
Wide nasal bridge, Hearing abnormality, Prominence of the premaxilla, Malar flattening ORPHA:2412
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Cohen Syndrome
Childhood-onset truncal obesity, Hypoplasia of the maxilla, Micrognathia, Small for gestational a... OMIM:216550
Deafness, X-Linked 2
Mixed hearing impairment, Conductive hearing impairment, Congenital sensorineural hearing impairm... OMIM:304400
Lowry-Maclean Syndrome
Retrognathia, Short nose, Low-set ears, Talon cusp, Hypoplasia of the maxilla, Micrognathia, Dela... ORPHA:2409
Beta-Thalassemia Major
Anisopoikilocytosis, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Decreased me... ORPHA:231214
Distal Deletion 10Q
Short nose, Abnormality of the outer ear, Low-set ears, Cochlear malformation, Attention deficit ... ORPHA:96148
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Decreased body weight, Hypoplasia of the maxilla, Macrotia, Micrognathia, ... OMIM:300534
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Micrognathia, Malar flattening OMIM:241310
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Mandibular prognathia ORPHA:1540
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Microtia, Hypoplasia of the maxilla, Conductive hearing impairment, M... ORPHA:314679
Axenfeld-Rieger Syndrome
Hearing impairment, Wide nasal bridge, Hypoplasia of the maxilla ORPHA:782
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Pycnodysostosis
Obtuse angle of mandible, Persistence of primary teeth, Hypoplasia of the maxilla, Carious teeth,... ORPHA:763
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Hypoplasia of the maxilla, Failure to thrive, Cognitive impairment ORPHA:238468
Axenfeld-Rieger Syndrome, Type 2
Hearing impairment, Mandibular prognathia, Wide nasal bridge, Hypoplasia of the maxilla OMIM:601499
Marshall Syndrome
Short nose, Sensorineural hearing impairment, Hypoplastic frontal sinuses, Hypoplasia of the maxi... ORPHA:560
Meier-Gorlin Syndrome 5
Small earlobe, Microtia, Low-set ears, Hypoplasia of the maxilla, Failure to thrive, Micrognathia OMIM:613805
Carpenter Syndrome 1
Sensorineural hearing impairment, Abnormal pinna morphology, Low-set ears, Persistence of primary... OMIM:201000
Gorham-Stout Disease
Mandibular pain, Abnormal ethmoid bone morphology, Abnormal facial skeleton morphology, Abnormali... ORPHA:73
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Distal Limb Deficiencies-Micrognathia Syndrome
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Hypoplasia of the maxilla, C... ORPHA:1307
Acrodysostosis
Short nose, Delayed eruption of teeth, Mandibular prognathia, Hearing impairment, Hypoplasia of t... ORPHA:950
Temtamy Preaxial Brachydactyly Syndrome
Short nose, Low-set ears, Talon cusp, Hypoplasia of the maxilla, Micrognathia, Severe sensorineur... ORPHA:363417
Cleidocranial Dysplasia 2
Supernumerary tooth, Hearing impairment, Failure to thrive, Hypoplasia of the maxilla, Delayed er... OMIM:620099
Malan Syndrome
Retrognathia, Advanced eruption of teeth, Short nose, Mandibular prognathia, Hyperplasia of the p... OMIM:614753
Trichotillomania
Compulsive behaviors, Hair-pulling OMIM:613229
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Dilated vestibule of the inner ear, Abnormal morphology of the ... OMIM:611584
Saethre-Chotzen Syndrome
Abnormal antihelix morphology, Sensorineural hearing impairment, Abnormal pinna morphology, Micro... ORPHA:794
Van Maldergem Syndrome 1
Sensorineural hearing impairment, Microtia, Atresia of the external auditory canal, Conductive he... OMIM:601390
Melanocytic Nevus Syndrome, Congenital
Short nose, Prominence of the premaxilla OMIM:137550
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Van Maldergem Syndrome 2
Sensorineural hearing impairment, Microtia, Stenosis of the external auditory canal, Hearing impa... OMIM:615546
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Prominent frontal sinuses, Low-set ears, Persistence of primary teeth, Hyp... OMIM:170390
Treacher-Collins Syndrome
Retrognathia, Abnormal dental enamel morphology, Microtia, Abnormality of the middle ear, Hypopla... ORPHA:861
Bor Syndrome
Retrognathia, Stenosis of the external auditory canal, Abnormal pinna morphology, Abnormality of ... ORPHA:107
Atelosteogenesis, Type Iii
Hypoplasia of the maxilla, Micrognathia, Malar flattening OMIM:108721
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia ORPHA:293987
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Synotia, Mandibular aplasia, Agenesis of corpus callosum, Narr... ORPHA:990
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
Short nose, Large for gestational age, Recurrent otitis media, Low-set ears, Hypoplasia of the ma... OMIM:213980
Kagami-Ogata Syndrome
Hypoplasia of the maxilla, Retrognathia, Microtia, Micrognathia OMIM:608149
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hair-pulling, Nail-biting, Broad-based gait, Emotional lability, Polyphagia, Fixated interests, D... OMIM:620330
Crouzon Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Mandibular prognathia, Hyp... OMIM:123500
Andersen-Tawil Syndrome
Abnormality of dental color, Low-set ears, Persistence of primary teeth, Hypoplasia of the maxill... ORPHA:37553
Premature Aging Syndrome, Penttinen Type
Retrognathia, Short nose, Delayed eruption of teeth, Sensorineural hearing impairment, Hypoplasia... OMIM:601812
Cohen Syndrome
Aplasia/Hypoplasia of the earlobes, Sensorineural hearing impairment, Hypoplasia of the maxilla, ... ORPHA:193
Lead Poisoning
Abnormal T cell morphology, Decreased HDL cholesterol concentration, Anemia, Increased LDL choles... ORPHA:330015
Ear-Patella-Short Stature Syndrome
Retrognathia, Microtia, third degree, Low-set ears, Mandibular aplasia, Hearing impairment, Atres... ORPHA:2554
Pfeiffer Syndrome
Hypoplasia of the maxilla, Short nose, Mandibular prognathia OMIM:101600
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Hypoplasia of the maxilla, Eunuchoid habitus, Mandibular prognathia ORPHA:3044
Angelman Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Obesity OMIM:105830
Shprintzen-Goldberg Syndrome
Retrognathia, Low-set ears, Hypoplasia of the maxilla, Conductive hearing impairment, Micrognathi... ORPHA:2462
Coffin-Lowry Syndrome
Advanced eruption of teeth, Craniofacial hyperostosis, Delayed eruption of teeth, Sensorineural h... ORPHA:192
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Con... ORPHA:306542
Nablus Mask-Like Facial Syndrome
Retrognathia, Short nose, Small earlobe, Low-set ears, Hypoplasia of the maxilla, Posteriorly rot... OMIM:608156
Martsolf Syndrome 1
Low-set ears, Hypoplasia of the maxilla, Micrognathia, Posteriorly rotated ears, Prominent antitr... OMIM:212720
Acrodysostosis 1 With Or Without Hormone Resistance
Delayed eruption of teeth, Mandibular prognathia, Hearing impairment, Hypoplasia of the maxilla, ... OMIM:101800
Nasopalpebral Lipoma-Coloboma Syndrome
Abnormality of cartilage of external ear, Hypoplasia of the maxilla, Low-set ears, Cupped ear ORPHA:2399
Shwachman-Diamond Syndrome 1
Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... OMIM:260400
Meier-Gorlin Syndrome 3
Microtia, Low-set ears, Hypoplasia of the maxilla, Failure to thrive, Micrognathia, Posteriorly r... OMIM:613803
Peroxisome Biogenesis Disorder 12A (Zellweger)
Decreased body weight, Prominence of the premaxilla, Wide nasal bridge OMIM:614886
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyperkalemia, Hyponatremia, Decreased circulating renin level OMIM:201750
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Rapp-Hodgkin Syndrome
Recurrent otitis media, Stenosis of the external auditory canal, Hearing impairment, Carious teet... OMIM:129400
Dysostosis, Stanescu Type
Abnormal dental enamel morphology, Carious teeth, Hypoplasia of the zygomatic bone, Hypoplasia of... ORPHA:1798
Bone Marrow Failure Syndrome 3
Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,... OMIM:617052
Cardioacrofacial Dysplasia 1
Hypoplasia of the maxilla OMIM:619142
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Irritability, Hair-pulling, Hyperactivity, Dysphagia, Motor stereotypy ORPHA:447997
Osteoglophonic Dysplasia
Short nose, Delayed eruption of teeth, Eruption failure, Mandibular prognathia, Low-set ears, Hyp... OMIM:166250
Meier-Gorlin Syndrome 1
Incomplete partition of the cochlea type II, Microtia, Low-set ears, Hearing impairment, Atresia ... OMIM:224690
Brachytelephalangic Chondrodysplasia Punctata
Hypoplasia of the maxilla, Short nose, Mixed hearing impairment, Hypoplasia of the anterior nasal... ORPHA:79345
Cowden Syndrome 5
Hearing impairment, Micrognathia, Hypoplasia of the maxilla OMIM:615108
Orofaciodigital Syndrome Ii
Agenesis of central incisor, Hypoplasia of the maxilla, Conductive hearing impairment, Micrognath... OMIM:252100
Shprintzen-Goldberg Craniosynostosis Syndrome
Abnormal pinna morphology, Low-set ears, Hypoplasia of the maxilla, Conductive hearing impairment... OMIM:182212
Frontorhiny
Congenital conductive hearing impairment, Hypoplasia of the maxilla, Low-set, posteriorly rotated... ORPHA:391474
Barber-Say Syndrome
Delayed eruption of teeth, Stenosis of the external auditory canal, Mandibular prognathia, Low-se... OMIM:209885
Cowden Syndrome 6
Hearing impairment, Micrognathia, Hypoplasia of the maxilla OMIM:615109
Gorlin-Chaudhry-Moss Syndrome
Hypoplasia of the maxilla, Conductive hearing impairment ORPHA:2095
Rubinstein-Taybi Syndrome 1
Retrognathia, Low-set ears, Short attention span, Talon cusp, Hearing impairment, Hypoplasia of t... OMIM:180849
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia ORPHA:99867
Elsahy-Waters Syndrome
Agenesis of incisor, Supernumerary tooth, Delayed eruption of teeth, Mandibular prognathia, Low-s... OMIM:211380
Distal Deletion 19P
Hypoplasia of the maxilla, Sensorineural hearing impairment, Conductive hearing impairment, Low-s... ORPHA:96129
Charge Syndrome
Low-set, posteriorly rotated ears, Abnormality of the inner ear, Aplasia/Hypoplasia of the earlob... ORPHA:138
Holoprosencephaly 9
Agenesis of incisor, Short nose, Underdeveloped tragus, Hypoplasia of the maxilla, Macrotia, Post... OMIM:610829
Floating-Harbor Syndrome
Long nose, Low-set ears, Cochlear malformation, Short attention span, Persistence of primary teet... ORPHA:2044
Hartsfield Syndrome
Hypernatremia OMIM:615465
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Atresia of the external auditory canal, Conductive hearing impairment, Wide nasal bridge, Hypopla... OMIM:106260
Cowden Syndrome 1
Hearing impairment, Micrognathia, Hypoplasia of the maxilla OMIM:158350
Goldberg-Shprintzen Syndrome
Hypoplasia of the maxilla, Low-set ears, Wide nasal bridge OMIM:609460
Zttk Syndrome
Dysplastic corpus callosum, Short nose, Low-set ears, Hypoplasia of the maxilla, Failure to thriv... OMIM:617140
Geroderma Osteodysplasticum
Hypoplasia of the maxilla, Mandibular prognathia, Malar flattening OMIM:231070
Marshall-Smith Syndrome
Short mandibular rami, Retrognathia, Short nose, Bilateral conductive hearing impairment, Low-set... OMIM:602535
Craniolenticulosutural Dysplasia
Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Delayed eruption of teeth ORPHA:50814
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Sensorineural hearing impairment, Hypoplasia of the semicircular canal, Absen... OMIM:609136
Van Den Ende-Gupta Syndrome
Small earlobe, Hypoplasia of the maxilla, Micrognathia, Posteriorly rotated ears, Malar flattenin... OMIM:600920
Recon Progeroid Syndrome
Attached earlobe, Microtia, Delayed eruption of permanent teeth, Prominence of the premaxilla OMIM:620370
Stickler Syndrome
Chronic otitis media, Short nose, Advanced eruption of teeth, Sensorineural hearing impairment, A... ORPHA:828
Myhre Syndrome
Microtia, Mandibular prognathia, Low-set ears, Hearing impairment, Hypoplasia of the maxilla, Obe... OMIM:139210
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Noonan Syndrome
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Micrognathia, Aplasia of the... ORPHA:648
Microphthalmia With Limb Anomalies
Low-set, posteriorly rotated ears, Hypoplasia of the maxilla, Failure to thrive, Micrognathia, Hy... ORPHA:1106
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Multicentric Osteolysis, Nodulosis, And Arthropathy
Hypoplasia of the maxilla, Micrognathia, Delayed eruption of teeth OMIM:259600
Bartsocas-Papas Syndrome 1
Short nose, Microtia, Low-set ears, Hypoplasia of the maxilla, Micrognathia, Cupped ear OMIM:263650
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Abnormality of the ear, Mandibular prognathia, Hypoplasia of the maxilla ORPHA:1101
Myhre Syndrome
Hearing impairment, Mandibular prognathia, Craniofacial hyperostosis, Hypoplasia of the maxilla ORPHA:2588
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:301040
Xq21 Microdeletion Syndrome
Sensorineural hearing impairment, Abnormal cochlea morphology, Bilateral sensorineural hearing im... ORPHA:1435
Branchioskeletogenital Syndrome
Mixed hearing impairment, Attached earlobe, Mandibular prognathia, Abnormal dentin morphology, Hy... ORPHA:1299
Dyskeratosis Congenita
Hearing impairment, Carious teeth, Hypoplasia of the maxilla, Taurodontia ORPHA:1775
Greenberg Dysplasia
Hypoplasia of the maxilla, Retrognathia, Micrognathia, Low-set ears OMIM:215140
Monosomy 22Q13.3
Impaired pain sensation, Hyperactivity, Bruxism, Hair-pulling ORPHA:48652
Acrofacial Dysostosis, Cincinnati Type
Retrognathia, Mild hearing impairment, Recurrent otitis media, Short nose, Microtia, Aplastic zyg... OMIM:616462
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Dysplastic corpus callosum, Short nose, Low-set ears, Hearing impairment, Hypoplasia of the maxil... ORPHA:500150
Ablepharon Macrostomia Syndrome
Microtia, Hearing impairment, Atresia of the external auditory canal, Hypoplasia of the maxilla, ... ORPHA:920
Saethre-Chotzen Syndrome
Long nose, Microtia, Low-set ears, Hearing impairment, Hypoplasia of the maxilla, Cleft of chin, ... OMIM:101400
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Hypoplasia of the maxilla, Short nose, Taurodontia OMIM:305100
Cutis Laxa, Autosomal Recessive, Type Iic
Mandibular prognathia, Decreased body weight, Low-set ears, Hypoplasia of the maxilla, Malar flat... OMIM:617402
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Retrognathia, Large for gestational age, Microtia, Mandibular prognathia, Hypoplasia of the maxil... ORPHA:96334
Craniosynostosis And Dental Anomalies
Chronic otitis media, Supernumerary tooth, Absent malleus, Delayed eruption of teeth, Mandibular ... OMIM:614188
Weill-Marchesani Syndrome 2
Hypoplasia of the maxilla, Thickened helices OMIM:608328
Weill-Marchesani Syndrome 1
Hypoplasia of the maxilla OMIM:277600
Peters-Plus Syndrome
Conical incisor, Stenosis of the external auditory canal, Microtia, second degree, Low-set ears, ... OMIM:261540
Schinzel-Giedion Syndrome
Retrognathia, Short nose, Delayed eruption of teeth, Abnormal helix morphology, Abnormal cochlea ... ORPHA:798
Primrose Syndrome
Superiorly displaced ears, Increased size of the mandible, Calcification of the auricular cartila... OMIM:259050
3Mc Syndrome 2
Hearing impairment, Prominence of the premaxilla, Wide nasal bridge OMIM:265050
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Microtia, Hearing impairment, Carious teeth, Hypoplasia of the maxilla, Malar flattening OMIM:604292
Charge Syndrome
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Micrognathia,... OMIM:214800
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Microtia, Hypoplasia of the maxilla, Conductive hearing impairment, Carious teeth, Malar flattening OMIM:129900
Aicardi Syndrome
Protruding ear, Prominence of the premaxilla, Partial agenesis of the corpus callosum ORPHA:50
Craniofacial Microsomia 1
Sensorineural hearing impairment, Microtia, Underdeveloped tragus, Maxillozygomatic hypoplasia, A... OMIM:164210
Norrie Disease
Sensorineural hearing impairment, Abnormal helix morphology, Abnormal cochlea morphology, Cachexi... ORPHA:649
Cornelia De Lange Syndrome 6
Compulsive behaviors, Hair-pulling OMIM:620568
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
Alkaptonuria
Hemolytic anemia, Methemoglobinemia ORPHA:56
Singleton-Merten Syndrome 1
Hypoplasia of the tooth germ, Eruption failure, Decreased body weight, Hypoplasia of the maxilla,... OMIM:182250
Cutis Laxa, Autosomal Recessive, Type Ib
Retrognathia, Abnormal pinna morphology, Low-set ears, Micrognathia, Prominence of the premaxilla OMIM:614437
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla OMIM:300106
Kabuki Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Failure to thrive, Macrotia, Obe... ORPHA:2322
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Mixed hearing impairment, Microtia, Bilateral conductive hearing impairment, Low-set ears, Atresi... OMIM:620186
Kabuki Syndrome 1
Recurrent otitis media, Low-set ears, Hearing impairment, Macrotia, Micrognathia, Posteriorly rot... 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
Kmt2dtm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Kmt2dtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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