banner
Genes Phenotypes Help, News, Blog

Gene: Pou2af2 MGI:1917059

Log in to follow
Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
POU domain, class 2, associating factor 2
Synonyms:
OCA-B homolog,  Oca-t1,  1810046K07Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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 Pou2af2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Pou2af2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Hypospadias, Intestinal malrotation, Jejuna... OMIM:601346
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:261800
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... OMIM:600803
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:311895
Peutz-Jeghers Syndrome
Neoplasm of the nose, Biliary tract neoplasm, Rectal prolapse, Gastrointestinal infarctions, Stom... ORPHA:2869
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Hyperbiliverdinemia
Cholelithiasis, Decreased liver function, Cholestasis, Green urine OMIM:614156
Pancreatic Colipase Deficiency
Cholelithiasis, Fat malabsorption, Exocrine pancreatic insufficiency, Steatorrhea ORPHA:309108
Mitchell-Riley Syndrome
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Biliary atresia, Chol... OMIM:615710
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegaly, Jaundice,... OMIM:211600
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Intestinal malrotation, Abnormality of the pancreas, Abnormal liver... ORPHA:3032
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He... ORPHA:65682
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Zollinger-Ellison syndrome, Stomatitis, Cholelithiasis, Abnormal biliar... ORPHA:438274
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... ORPHA:69663
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Jaundice, Elevated circulating aspartate aminotransferase concentration, Hepatomegaly OMIM:614876
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Nasal polyposis, Bile duct polyp, Rectal prolapse, Abnormality of the u... OMIM:175200
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Cholelithiasis OMIM:300752
Orofaciodigital Syndrome Xv
Anteverted nares, Wide nasal bridge, Midline notch of upper alveolar ridge, Lobulated tongue, Hyd... OMIM:617127
Anemia, Congenital Dyserythropoietic, Type Ii
Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Sialuria
Elevated hepatic transaminase, Thin upper lip vermilion, Hepatomegaly, High, narrow palate, Wide ... ORPHA:3166
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Anal atresia, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia... ORPHA:2973
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis OMIM:605479
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Cleft palate, Abnormality of the dentition ORPHA:3104
Meckel Syndrome, Type 6
Absent gallbladder, Cleft upper lip, Cleft palate, Renal cyst, Horseshoe kidney, Cystic liver dis... OMIM:612284
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Annular pancreas, Tr... ORPHA:210122
Distal Duplication 5Q
Hypospadias, Prominent nasal bridge, Carious teeth, Cryptorchidism, Thin vermilion border, Aplasi... ORPHA:96097
Lipoid Proteinosis
Nasal polyposis, Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip ver... ORPHA:530
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Hypopituitarism, Dark yellow urine, Atretic gallblad... ORPHA:30391
Hartnup Disorder
Glossitis, Neutral hyperaminoaciduria OMIM:234500
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Cryptorchidism, Urethral obstruc... OMIM:236730
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Congenital Respiratory-Biliary Fistula
Tracheal stenosis, Abnormality of the liver ORPHA:2040
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Intrahepatic cholestasis, Jaundice, S... OMIM:602347
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Thin upper lip vermilion, Prominent nasal bridge, Diastema, Cryptorchidism, Recurrent upper respi... OMIM:300534
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperp... ORPHA:567983
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Pigment gallstones, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis OMIM:613470
Alpha-Thalassemia
Hypersplenism, Splenomegaly, Jaundice, Cholelithiasis ORPHA:846
Burning Mouth Syndrome
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... ORPHA:353253
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Decreased liver function, Cirrhosis ORPHA:79278
Vacterl/Vater Association
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... ORPHA:887
Auriculocondylar Syndrome 2A
Dental crowding, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... OMIM:614669
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Nasal polyposis, High palate, Bifid uvula, Median cleft lip OMIM:155145
Hereditary Mucoepithelial Dysplasia
Anorectal anomaly, Gingival overgrowth, Tracheoesophageal fistula, Furrowed tongue, Hematuria, Ab... ORPHA:1839
8P Inverted Duplication/Deletion Syndrome
Anteverted nares, High, narrow palate, Cryptorchidism, Abnormality of dental eruption, Wide nasal... ORPHA:96092
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, Tracheal ste... ORPHA:93941
Non-Syndromic Posterior Hypospadias
Ventral shortening of foreskin, Esophageal atresia, Cryptorchidism, Cleft palate, Urethral divert... ORPHA:95706
Pai Syndrome
Nasal polyposis, Depressed nasal bridge, Median cleft lip, Cleft palate, Abnormal oral frenulum m... ORPHA:1993
Deafness-Craniofacial Syndrome
Short lingual frenulum, Abnormality of the dentition, Underdeveloped nasal alae, Wide nasal bridg... ORPHA:3241
Whistling Face Syndrome, Recessive Form
Prominent nasal bridge, Underdeveloped nasal alae, Whistling appearance, High palate, Narrow mout... OMIM:277720
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Anteverted nares, Hypospadias, Exaggerated cupid's bow, High, narrow ... ORPHA:464738
Seckel Syndrome 2
Hypospadias, Ectopic kidney, Prominent nose, Microdontia, Microglossia OMIM:606744
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Thin upper lip vermilion, Anteverted nares, Bulbous nose, Pierre-Robin sequence, Wide nasal bridg... OMIM:613604
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Cleft palate ORPHA:141152
Mirizzi Syndrome
Dark urine, Elevated hepatic transaminase, Pancreatitis, Jaundice, Cholesterol gallstones, Cholel... ORPHA:521219
Craniosynostosis, Herrmann-Opitz Type
Abnormality of the upper urinary tract, Abnormality of the urethra, Cleft palate, Short nose, Con... ORPHA:2145
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Downturned corners of mouth, ... OMIM:613443
Metachromatic Leukodystrophy
Urinary incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallblad... ORPHA:512
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure OMIM:177000
Catel-Manzke Syndrome
Glossoptosis, Oral synechia, Cleft palate ORPHA:1388
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Orofaciodigital Syndrome Xix
Cleft soft palate, Accessory oral frenulum, Underdeveloped nasal alae, Bifid nasal tip, Carious t... OMIM:620107
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Prominent nose, Wide nasal bridge, Renal tubular dysfunction, Chol... OMIM:614886
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenom... ORPHA:231222
Cronkhite-Canada Syndrome
Intestinal polyposis, Hepatomegaly, Malabsorption, Splenomegaly, Hypogeusia, Furrowed tongue, Ham... ORPHA:2930
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... ORPHA:2919
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Splenomegaly, Jaundice, Cholelithiasis, Cholecystitis OMIM:235700
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Nephro... OMIM:240300
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue atrophy, Tongue fasciculations, Dysphagia OMIM:613435
Cataract-Intellectual Disability-Hypogonadism Syndrome
Depressed nasal bridge, Cryptorchidism, Furrowed tongue, High palate, Short philtrum, Everted low... ORPHA:1387
9q subtelomeric deletion syndrome
Short nose, Anteverted nares, Protruding tongue DECIPHER:52
Hereditary Hemorrhagic Telangiectasia
Intestinal polyposis, Gastrointestinal hemorrhage, Epistaxis, Portal hypertension, Esophageal var... ORPHA:774
Joubert Syndrome 18
Cleft palate, Renal cyst, Horseshoe kidney, Lobulated tongue, Intrahepatic biliary atresia OMIM:614815
Primary Sclerosing Cholangitis
Acute hepatic failure, Hepatic fibrosis, Neoplasm of the gallbladder, Adenocarcinoma of the large... ORPHA:171
Glycogen Storage Disease Vii
Hematuria, Cholelithiasis, Jaundice, Exercise-induced myoglobinuria OMIM:232800
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Dental crowding, Splenomegaly, Bulbous nose, Downturned corners of mouth, Macroglos... OMIM:618268
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Anteverted nares, Broad nasal tip, Thick lower lip vermilion, P... OMIM:300602
Meckel Syndrome, Type 3
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Cleft palat... OMIM:607361
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Hematochezia, Cholestatic liver disease, Cho... ORPHA:79095
Craniofacioskeletal Syndrome
Thin upper lip vermilion, Absent gallbladder, Hypospadias, Choanal atresia, Cryptorchidism, Cleft... OMIM:300712
Trisomy 8Q
Hypoplasia of penis, Cryptorchidism, Non-midline cleft lip, Wide nasal bridge, Orofacial cleft, C... ORPHA:1752
Beta-Thalassemia
Splenomegaly, Hepatomegaly, Cholelithiasis, Hepatitis ORPHA:848
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Gastrointestinal hemorrhage, Elev... ORPHA:97278
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Poirier-Bienvenu Neurodevelopmental Syndrome
Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue OMIM:618732
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Hemoglobinuria, Cholelithiasis OMIM:194380
Mulibrey Nanism
Hepatomegaly, Wide nose, Depressed nasal bridge, Dental crowding, Microglossia, Wide nasal bridge... OMIM:253250
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Thin upper lip vermilion, Absent gallbladder, Hypospadias, Choanal atresia, Underdeveloped nasal ... ORPHA:163979
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Abnormal ... ORPHA:93110
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion OMIM:141300
Interstitial Cystitis
Abnormality of the urethra, Urinary bladder inflammation, Functional abnormality of the bladder, ... ORPHA:37202
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal... OMIM:208540
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis OMIM:266200
Pentalogy Of Cantrell
Absent gallbladder, Renal agenesis, Hypospadias, Non-midline cleft lip, Cleft palate, Orofacial c... ORPHA:1335
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Dysphagia OMIM:160900
Pallister-Hall-Like Syndrome
Median cleft lip, Depressed nasal bridge, Cleft palate, Micropenis, Microglossia, Anterior hypopi... OMIM:241800
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Cleft palate, Long philtrum ORPHA:166100
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tongue atrophy, Dysphagia ORPHA:496689
Grfoma
Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Gastrointestinal hemorrhage, Elev... ORPHA:97261
Plummer-Vinson Syndrome
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Dysphagia, Esophageal web, Narrow mouth,... ORPHA:54028
Spherocytosis, Type 1
Splenomegaly, Jaundice, Cholelithiasis OMIM:182900
Trisomy 17P
Wide nose, Hypoplasia of penis, Urethral valve, Prominent nose, Urethral stenosis, Orofacial clef... ORPHA:261290
Trisomy 8P
Depressed nasal bridge, Anteverted nares, Cryptorchidism, Fetal pyelectasis, Recurrent upper resp... ORPHA:264450
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Hepatic... OMIM:614377
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Renal hypoplasia, Hypertrophy of the urinary bladder, Urethral obstruction, Renal dysplasia, Anal... OMIM:601389
9Q21.13 Microdeletion Syndrome
Wide nasal ridge, Cryptorchidism, Abnormal tongue morphology, Gastrointestinal dysmotility, Downt... ORPHA:531151
Epilepsy, Progressive Myoclonic, 9
Microglossia OMIM:616540
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Ur... ORPHA:2704
Asthma, Nasal Polyps, And Aspirin Intolerance
Nasal polyposis OMIM:208550
Trisomy 10P
Absent gallbladder, Depressed nasal bridge, Anteverted nares, Abnormality of the kidney, Abnormal... ORPHA:171929
Mandibulofacial Dysostosis With Alopecia
Hydroureter, Dental crowding, Delayed eruption of primary teeth, Wide nasal bridge, Cleft palate,... OMIM:616367
Carey-Fineman-Ziter Syndrome
Anteverted nares, Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, Glandular hypospadias,... ORPHA:1358
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Depressed nasal bridge, Cleft lip, Cleft palate, Hepatosplenomegaly, Thick vermilio... OMIM:301066
Lathosterolosis
Elevated hepatic transaminase, Anteverted nares, Bilobate gallbladder, Intrahepatic cholestasis, ... OMIM:607330
Hypoglossia With Situs Inversus
Asplenia, High palate, Hypodontia, Polysplenia, Narrow mouth, Microglossia OMIM:612776
Hypomandibular Faciocranial Dysostosis
Anteverted nares, Aplasia/Hypoplasia of the tongue, Cleft palate, Choanal stenosis, Narrow mouth,... ORPHA:1790
Orofaciodigital Syndrome Iii
Supernumerary tooth, Bulbous nose, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula OMIM:258850
Fowler Urethral Sphincter Dysfunction Syndrome
Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary retention,... ORPHA:2795
Triploidy
Hepatomegaly, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Cryptorchidism, Non-midli... ORPHA:3376
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology, Dysuria ORPHA:293807
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Anteverted nares, Underdeveloped nasal alae, Congenital hepatic fib... ORPHA:2031
Ring Chromosome 13 Syndrome
Hypoplasia of the gallbladder, Depressed nasal bridge, Anteverted nares, Hypospadias, Wide nasal ... ORPHA:96176
Silver-Russell Syndrome 1
Urethral valve, Hypospadias, Decreased response to growth hormone stimulation test, Abnormality o... OMIM:180860
Oculoauriculovertebral Spectrum With Radial Defects
Distal urethral duplication, Renal hypoplasia/aplasia, Non-midline cleft lip, Cleft palate, Orofa... ORPHA:2549
Familial Adenomatous Polyposis
Duodenal polyposis, Multiple gastric polyps, Eruption failure, Adenocarcinoma of the small intest... ORPHA:733
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Orofaciodigital Syndrome V
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Unilateral cryptorchidism, Ham... OMIM:174300
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Submucous cleft hard palate, Abnormality of the sense of smell, Glossoptosis... ORPHA:3201
Distal Limb Deficiencies-Micrognathia Syndrome
Renal insufficiency, Proteinuria, Prominent nasal bridge, Cryptorchidism, Renal hypoplasia, Cleft... ORPHA:1307
Myasthenic Syndrome, Congenital, 10
Tongue atrophy OMIM:254300
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
Down Syndrome
Depressed nasal bridge, Aganglionic megacolon, Renal hypoplasia/aplasia, Protruding tongue, Abnor... ORPHA:870
Sickle Cell Disease
Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Splenic infarction, Hematuria, Choleli... OMIM:603903
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Absent gallbladder, Depressed nasal bridge, Hamartoma of tongue, Esophageal divertic... OMIM:617925
Auriculocondylar Syndrome 1
Dental crowding, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, Anterior open-... OMIM:602483
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Tracheal stenosis, Hypoplasia of penis, Decreased response to growth hormone stimulation test, Ab... OMIM:601427
22Q11.2 Deletion Syndrome
Anorectal anomaly, Short philtrum, Hypoplasia of the thymus, Gastroesophageal reflux, Vesicourete... ORPHA:567
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy, Dysphagia ORPHA:216873
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Depressed nasal bridge, Hypospadias, Anteverted nares, Cryptorchidism, Pierre-Robin sequence, Cle... OMIM:217980
Bohring-Opitz Syndrome
Depressed nasal bridge, Anteverted nares, Cleft lip, Annular pancreas, Wide nasal bridge, Cleft p... ORPHA:97297
Steinfeld Syndrome
Absent gallbladder, Aplasia of the nose, Unilateral renal dysplasia, Bifid uvula, Median cleft li... OMIM:184705
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, O... OMIM:607626
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... ORPHA:209902
Bazex-Dupre-Christol Syndrome
Furrowed tongue, Underdeveloped nasal alae, Narrow nasal ridge, Low hanging columella OMIM:301845
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Non-midline cleft lip, Abnormal mesent... ORPHA:2075
Meckel Syndrome, Type 5
Cleft palate, Bile duct proliferation, Renal cyst, Cleft upper lip OMIM:611561
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... OMIM:301068
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence OMIM:192445
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Abnormal external nose morphology, High palate, Solitary median maxillary cen... ORPHA:556955
Epidermolysis Bullosa, Junctional 5A, Intermediate
Premature loss of permanent teeth, Urethral stenosis OMIM:619816
Facioscapulohumeral Muscular Dystrophy 1
Tongue atrophy, Dysphagia OMIM:158900
Penile Agenesis
Urethral atresia, male, Depressed nasal bridge, Hydroureter, Rectal fistula, Cryptorchidism, Feta... ORPHA:49
Hurler-Scheie Syndrome
Hepatomegaly, Depressed nasal bridge, Heparan sulfate excretion in urine, Splenomegaly, Dermatan ... OMIM:607015
Tetraamelia Syndrome 2
Absent nipple, Bilateral cleft lip, Cleft palate, Glossoptosis, Micropenis, Ankyloglossia OMIM:618021
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Recurrent upper and lower respiratory tract infections ORPHA:171876
Glycogen Storage Disease Xii
Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransferase concentration... OMIM:611881
Jung Syndrome
Tracheal stenosis, Depressed nasal bridge, Wide nasal bridge ORPHA:2321
Zttk Syndrome
Absent gallbladder, Depressed nasal bridge, Polyuria, Unilateral renal agenesis, Abnormality of t... OMIM:617140
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Depressed nasal bridge, Anteverted nares, Protruding tongue, Malabsorption, Macroglossia, Short nose OMIM:242860
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Underdeveloped nasal alae, Biliary hyperplasia, Pyloric stenosis, Cryptorchidism, W... ORPHA:83617
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Glossoptosis, Prominent nasal bridge, Wide nasal bridge, Cleft palate OMIM:618356
Ciliary Dyskinesia With Defective Radial Spokes
Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis OMIM:242670
Lower Urinary Tract Obstruction, Congenital
Urinary incontinence, Urethral stenosis, Pollakisuria, Congenital posterior urethral valve, Vesic... OMIM:618612
Penoscrotal Transposition
Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Abnormality o... ORPHA:2842
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Cleft soft palate, Pierre-Robin sequence, Choanal stenosis, Tracheal st... OMIM:620183
Solar Urticaria
Abnormal lip morphology, Abnormal tongue morphology ORPHA:97230
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Depressed nasal ridge, Abnormal intrahepatic bile duct morpholo... ORPHA:731
Kleefstra Syndrome 1
U-Shaped upper lip vermilion, Natal tooth, Anteverted nares, Hypospadias, Persistence of primary ... OMIM:610253
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia involving the nose, Multicystic kidney dysplasia, Cryptorchidism, Orofacial cl... ORPHA:3301
Geleophysic Dysplasia 3
Hepatomegaly, Depressed nasal bridge, Anteverted nares, Bulbous nose, Wide nasal bridge, Thick ve... OMIM:617809
Meckel Syndrome, Type 2
Cleft palate, Bile duct proliferation, Intestinal malrotation, Renal cyst OMIM:603194
Porphyria, Congenital Erythropoietic
Hepatomegaly, Erythrodontia, Splenomegaly, Jaundice, Red urine, Increased fecal coproporphyrin 1,... OMIM:263700
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Choanal atresia, Wide nasal bridge... ORPHA:2759
Hydrolethalus
Tracheal atresia, Cryptorchidism, Submucous cleft hard palate, Gingival cleft, Abnormality of the... ORPHA:2189
Williams Syndrome
Hypoplasia of penis, Rectal prolapse, Abnormal tubulointerstitial morphology, Nephrocalcinosis, G... ORPHA:904
Caroli Syndrome
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Hepatomegaly, Abnormality... ORPHA:480520
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Ectopic kidney, Renal ... OMIM:146510
Auriculocondylar Syndrome
Dental crowding, Hamartoma of tongue, Narrow mouth, Microglossia, Dental malocclusion, Cleft pala... ORPHA:137888
Mohr Syndrome
Median cleft lip, Depressed nasal bridge, Accessory oral frenulum, Broad nasal tip, Bifid nasal t... OMIM:252100
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Hypospadias, Bifid nasal tip, Bilateral cleft lip and palate, High pala... OMIM:618874
Orofaciodigital Syndrome I
Lobulated tongue, High palate, Hepatic fibrosis, Hamartoma of tongue, Cleft upper lip, Supernumer... OMIM:311200
Arthrogryposis, Distal, Type 5D
Tongue atrophy, Anteverted nares, Bulbous nose, Cleft palate, Furrowed tongue, Narrow mouth, Open... OMIM:615065
Hartnup Disease
Abnormal urinary color, Malabsorption, Gingivitis, Glossitis, Neutral hyperaminoaciduria ORPHA:2116
Acrocallosal Syndrome
Downturned corners of mouth, High palate, Short philtrum, Micropenis, Prominent palatine ridges, ... OMIM:200990
Sickle Cell Anemia
Pigment gallstones, Abnormality of the spleen, Cholestasis ORPHA:232
Orofaciodigital Syndrome Type 3
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Bulbous nose, Stage 5 chr... ORPHA:2752
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Esophageal atresia, Tracheoesophageal fistula, Urethral atresia, Anal atresia, Hydronephrosis, En... OMIM:314390
Orofaciodigital Syndrome Type 1
Lobulated tongue, High palate, Multicystic kidney dysplasia, Abnormal dental enamel morphology, A... ORPHA:2750
Hereditary Acrokeratotic Poikiloderma
Abnormality of the gastrointestinal tract, Premature loss of primary teeth, Abnormal preputium mo... ORPHA:2907
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Prominent nasal bridge, Underdeveloped nasal... ORPHA:364577
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Oral mucosal blisters, Abnormality of the urethra, Congenital pyloric atresia, A... ORPHA:158684
Congenital Disorder Of Glycosylation, Type Iig
Thin upper lip vermilion, Renal insufficiency, Anteverted nares, Hypospadias, Hemolytic-uremic sy... OMIM:611209
Tetrasomy 9P
Dental crowding, Biliary atresia, Downturned corners of mouth, High palate, Short philtrum, Micro... ORPHA:3310
Tarp Syndrome
Anteverted nares, Wide nasal bridge, Horseshoe kidney, Cleft palate, Tongue nodules, Glossoptosis... OMIM:311900
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:620269
Cimdag Syndrome
Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly OMIM:619273
Toxic Epidermal Necrolysis
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Gastrointestinal hemor... ORPHA:537
Auriculocondylar Syndrome 3
Glossoptosis, Bifid uvula OMIM:615706
Robinow Syndrome, Autosomal Dominant 3
Depressed nasal bridge, Anteverted nares, Cleft lip, Cryptorchidism, Dental malocclusion, Wide na... OMIM:616894
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Tongue atrophy OMIM:616155
Pendred Syndrome
Tracheal stenosis, Nephropathy, Hyperparathyroidism, Goiter ORPHA:705
Ciliary Dyskinesia, Primary, 42
Recurrent sinusitis, Nasal polyposis, Chronic rhinitis OMIM:618695
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Anteverted nares, Hypospadias, Cleft palate, Furrowed tongue, High pa... OMIM:616449
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Broad nasal tip, Protruding tongue, Submucous cleft hard palate, Wide nasal brid... OMIM:618106
Melkersson-Rosenthal Syndrome
Macroglossia, Furrowed tongue, Cheilitis, Oligosacchariduria ORPHA:2483
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing enteropathy, Gas... OMIM:175500
22Q11.2 Duplication Syndrome
Wide nose, Urethral stenosis, Depressed nasal ridge, Cleft palate, Displacement of the urethral m... ORPHA:1727
Diphallia
Abnormality of the gastrointestinal tract, Ureteral duplication, Renal malrotation, Rectoperineal... ORPHA:227
Triosephosphate Isomerase Deficiency
Splenomegaly, Jaundice, Cholecystitis, Prolonged neonatal jaundice, Cholelithiasis OMIM:615512
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Aplasia/Hypoplasia involving the nose, Hypoplasia of penis, Absent nares, Narrow mouth, Microglossia ORPHA:990
Ciliary Dyskinesia, Primary, 35
Nasal polyposis, Abdominal situs ambiguus, Chronic rhinitis OMIM:617092
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Depressed nasal bridge, Anteverted nares, Protruding tongue, Gingival overgrowth, Wide mouth, Ves... OMIM:618797
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Furrowed tongue ORPHA:2928
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Depressed nasal bridge, Prominent nasal bridge, Protruding tongue, Bulbous nose, Everted lower li... ORPHA:324410
Agnathia-Otocephaly Complex
Wide nose, Aglossia, Cleft palate, Narrow mouth, Microglossia OMIM:202650
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Abnormality of the urethra, Cryptorchidism ORPHA:752
Psoriasis 14, Pustular
Geographic tongue, Cholangitis, Furrowed tongue OMIM:614204
Holzgreve Syndrome
Aplasia/Hypoplasia of the tongue, Renal hypoplasia/aplasia, Abnormal mesentery morphology, Cleft ... ORPHA:2167
Cystic Fibrosis
Hepatomegaly, Nasal polyposis, Meconium ileus, Rectal prolapse, Ileus, Hypercalciuria, Biliary ci... OMIM:219700
Orofaciodigital Syndrome Iv
Hamartoma of tongue, Accessory oral frenulum, Cleft palate, Lobulated tongue, High palate, Tongue... OMIM:258860
Keutel Syndrome
Wide nose, Depressed nasal bridge, Underdeveloped nasal alae, Recurrent sinusitis, Tracheal atresia ORPHA:85202
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch... ORPHA:64744
Ciliary Dyskinesia, Primary, 19
Rhinitis, Nasal polyposis, Recurrent sinusitis, Absent inner and outer dynein arms OMIM:614935
Microcephaly 26, Primary, Autosomal Dominant
Prominent nasal bridge, Protruding tongue, Wide nasal bridge, Gingival overgrowth, Long philtrum,... OMIM:619179
Hereditary Spherocytosis
Splenomegaly, Hepatomegaly, Jaundice, Cholelithiasis ORPHA:822
Acquired Hypertrichosis Lanuginosa
Macroglossia, Glossitis, Ovarian neoplasm ORPHA:2221
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Depressed nasal bridge, Elevated circulating alanine aminotransferase concent... OMIM:618500
Hypomandibular Faciocranial Dysostosis
Pursed lips, Aglossia, Choanal stenosis OMIM:241310
Au-Kline Syndrome
Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nasal tip, Cryptorchid... OMIM:616580
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Wide nose, Neurogenic bladder, Elevated circulating aspartate aminotransferase conc... OMIM:608779
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormality of the gastrointestinal tract, Underdeveloped nasal alae, Cryptorchidism, Gastrointes... ORPHA:453499
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Glossitis, Thin upper lip vermilion, Hepatomegaly, Cystathioninuria, Tracheoesophageal fistula, M... OMIM:277380
Hereditary Elliptocytosis
Splenomegaly, Jaundice, Cholelithiasis, Prolonged neonatal jaundice ORPHA:288
Hypoglossia-Hypodactyly Syndrome
Jejunal atresia, Aplasia/Hypoplasia of the tongue, Wide nasal bridge, Cleft palate, High palate, ... ORPHA:989
Frontometaphyseal Dysplasia 2
Neurogenic bladder, Depressed nasal bridge, Broad nasal tip, Pyloric stenosis, Deep philtrum, Pie... OMIM:617137
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Oral mucosal blisters, Urinary bladder inflammation, Congenital pyloric atres... ORPHA:79403
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Sh... ORPHA:1507
Fraser Syndrome
Hypoplasia of penis, Cleft ala nasi, Dental crowding, Orofacial cleft, Urethral atresia, High pal... ORPHA:2052
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Bifid tongue, Intestinal malrotation, Bilateral cleft lip and palate ORPHA:2001
Methylmalonic Acidemia With Homocystinuria Type Cblf
Unilateral renal agenesis, Cleft palate, Methylmalonic aciduria, Reduced number of intrahepatic b... ORPHA:79284
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Gastroesophageal reflux, Advanced eruption of teeth, Multicystic kidney dysp... ORPHA:818
Treacher-Collins Syndrome
Hypoplasia of penis, Abnormal dental morphology, Choanal atresia, Abnormal dental enamel morpholo... ORPHA:861
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
U-Shaped upper lip vermilion, Depressed nasal bridge, Hypospadias, Anteverted nares, Renal agenes... OMIM:301040
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Icf Syndrome
Macroglossia, Malabsorption, Depressed nasal bridge, Protruding tongue ORPHA:2268
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Median cleft lip, Renal hypoplasia/aplasia, Orofacial cleft, Abnormal localiz... ORPHA:3186
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Anteverted nares, Protruding tongue, Cryptorchidism, Alveolar ridge overgrowth, Cleft palate, Thi... OMIM:612938
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Ulcerative colitis, Cholestasis, Abnorm... ORPHA:562639
Orofaciodigital Syndrome Type 6
Renal agenesis, Prominent nasal bridge, Hamartoma of tongue, Renal hypoplasia/aplasia, Broad nasa... ORPHA:2754
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, Renal hypoplasia/aplasia, Tracheoesophageal fistula, Orofacial ... ORPHA:958
Contractures-Developmental Delay-Pierre Robin Syndrome
Hypospadias, Underdeveloped nasal alae, High, narrow palate, Cleft palate, Abnormal columella mor... ORPHA:436003
Dehydrated Hereditary Stomatocytosis
Portal vein thrombosis, Cholelithiasis, Splenomegaly, Intermittent jaundice ORPHA:3202
Robinow Syndrome
Dental crowding, Orofacial cleft, Webbed penis, Micropenis, Multicystic kidney dysplasia, Depress... ORPHA:97360
Mounier-Kühn Syndrome
Tracheal stenosis ORPHA:3347
Kleefstra Syndrome Due To 9Q34 Microdeletion
Renal insufficiency, Hypoplasia of penis, Anteverted nares, Protruding tongue, Cryptorchidism, Do... ORPHA:96147
Ramos-Arroyo Syndrome
Anteverted nares, Depressed nasal bridge, Aganglionic megacolon, Carious teeth, Xerostomia, Conca... ORPHA:1051
Cowden Syndrome 5
Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, Ovarian cyst, Hydrocele testis, Hi... OMIM:615108
Pontocerebellar Hypoplasia, Type 1B
Tongue atrophy, Tongue fasciculations OMIM:614678
Marshall-Smith Syndrome
Anteverted nares, Choanal atresia, Protruding tongue, Gingival overgrowth, Short nose, Open mouth ORPHA:561
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Absent gallbladder, Intestinal malrotation, Biliary atresia, Glycosuria, Co... OMIM:600001
Digeorge Syndrome
Renal insufficiency, Parathyroid agenesis, Unilateral renal agenesis, High, narrow palate, Spleno... OMIM:188400
Tracheal Agenesis
Tracheal atresia ORPHA:3346
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Prominent ... OMIM:608670
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Hamartoma of tongue, Prominent nose, Cleft lip, Cryptorchidism, Renal hypoplasia, Re... OMIM:616300
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis OMIM:618775
Developmental And Speech Delay Due To Sox5 Deficiency
Exaggerated median tongue furrow, Dental crowding, Narrow palate, Gastroesophageal reflux ORPHA:313892
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Oral mucosal blisters, Esophageal atresia, Congenital pyloric atresia, Urethrovesical occlusion, ... OMIM:226730
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Polycystic kidney dys... OMIM:613091
Immunodeficiency 13
Recurrent sinusitis, Nasal polyposis, Recurrent upper respiratory tract infections OMIM:615518
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication, Intestinal malrotation, Biliary atresia, Pancreatic aplasia, Aplasia/Hypopl... ORPHA:2255
Chand Syndrome
Hydroureter, Depressed nasal bridge, Cleft palate, Agenesis of permanent teeth, Abnormal oral fre... ORPHA:1401
Cowden Syndrome 6
Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, Ovarian cyst, Hydrocele testis, Hi... OMIM:615109
Rabson-Mendenhall Syndrome
Wide nose, Enlarged ovaries, Anteverted nares, Prominent nasal bridge, Dental crowding, Abnormali... ORPHA:769
Autosomal Dominant Robinow Syndrome
Hypoplasia of penis, Epispadias, Abnormality of the gingiva, High, narrow palate, Downturned corn... ORPHA:3107
Developmental And Epileptic Encephalopathy 80
Increased urine alpha-ketoglutarate concentration, Tented upper lip vermilion, Protruding tongue,... OMIM:618580
Charcot-Marie-Tooth Disease, Type 4C
Tongue atrophy, Tongue fasciculations OMIM:601596
Congenital Disorder Of Glycosylation, Type Iia
Macrodontia, Prominent nasal bridge, Protruding tongue, Diastema, Gingival overgrowth, Wide mouth... OMIM:212066
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Decreased res... OMIM:604292
Opitz Gbbb Syndrome
Natal tooth, Enlarged ovaries, Anteverted nares, Hypospadias, Cleft lip, Cryptorchidism, Wide nas... ORPHA:2745
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, B... OMIM:267010
Ciliary Dyskinesia, Primary, 22
Rhinitis, Nasal polyposis, Recurrent sinusitis, Absent inner and outer dynein arms OMIM:615444
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... OMIM:613027
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Intestinal pseudo-obstruction, High, narrow palate, Gastrointestinal dysmotility, Downturned corn... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Intestinal pseudo-obstruction, High, narrow palate, Gastrointestinal dysmotility, Downturned corn... ORPHA:352665
Moebius Syndrome
Aplasia/Hypoplasia of the tongue, Cleft palate, Abnormality of the sense of smell, Tooth agenesis... ORPHA:570
Ciliary Dyskinesia, Primary, 30
Nasal congestion, Absent outer dynein arms, Nasal polyposis OMIM:616037
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Anteverted nares, Hypospadias, Protruding tongue, ... OMIM:214100
Mandibuloacral Dysplasia
Dental crowding, Abnormal tongue morphology, Hypoplasia of teeth, High palate, Narrow nose ORPHA:2457
Myopathy, Myofibrillar, 7
Tongue atrophy, Urinary incontinence, Dysphagia, Enuresis nocturna OMIM:617114
Distal Deletion 12Q
Median cleft lip, Anteverted nares, Unilateral cryptorchidism, Ectopic kidney, High, narrow palat... ORPHA:96149
Carey-Fineman-Ziter Syndrome 1
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Cryptorchidism, Pierre-Robin sequence,... OMIM:254940
Raine Syndrome
Natal tooth, Hydroureter, Depressed nasal bridge, Choanal atresia, Protruding tongue, Enamel hypo... OMIM:259775
Cerebrotendinous Xanthomatosis
Cholelithiasis, Pseudobulbar paralysis OMIM:213700
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue atrophy, Tongue fasciculations OMIM:620285
Cartilage-Hair Hypoplasia
Hepatomegaly, Anteverted nares, Depressed nasal bridge, Aganglionic megacolon, Malabsorption, Abn... ORPHA:175
Tarp Syndrome
Anteverted nares, Cryptorchidism, Pierre-Robin sequence, Wide nasal bridge, Horseshoe kidney, Alv... ORPHA:2886
Ritscher-Schinzel Syndrome 2
Intestinal malrotation, Protruding tongue, Cryptorchidism, High palate, Short philtrum, Convex na... OMIM:300963
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Nasal polyposis, Recurrent sinusitis OMIM:620197
Ciliary Dyskinesia, Primary, 2
Nasal polyposis, Absent inner and outer dynein arms OMIM:606763
Eec Syndrome
Hypospadias, Choanal atresia, Abnormal dental enamel morphology, Renal hypoplasia/aplasia, Cariou... ORPHA:1896
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Abnormality of the spleen, Splenomegaly, Esophageal varix, Hepa... ORPHA:2072
Orofaciodigital Syndrome Vi
Renal agenesis, Accessory oral frenulum, Broad nasal tip, Cleft upper lip, Hamartoma of tongue, C... OMIM:277170
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Dental crowding, Orofacial cleft, Downturned corners of mouth, High palat... OMIM:180700
Juvenile Sialidosis Type 2
Hepatomegaly, Abnormality of the kidney, Protruding tongue, Gingival overgrowth, Hepatosplenomega... ORPHA:93399
Stevens-Johnson Syndrome
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Gastrointestinal hemor... ORPHA:36426
Bare Lymphocyte Syndrome, Type I
Nasal polyposis OMIM:604571
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Nephrocalcinosis, Micropenis, Renal duplication, Dep... OMIM:268310
Shigellosis
Hemolytic-uremic syndrome, Intestinal perforation, Peritonitis, Urethritis, Ulcerative colitis, C... ORPHA:810
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Anteverted nares, Choanal atresia, Hypospadias, Cleft lip, Bulbous nose, Cryptorchidism, Renal cy... OMIM:616975
X-Linked Agammaglobulinemia
Glossoptosis, Hepatitis, Malabsorption ORPHA:47
Hand-Foot-Genital Syndrome
Recurrent urinary tract infections, Hypospadias, Abnormality of the urethra, Vesicoureteral reflu... ORPHA:2438
Cystic Fibrosis
Elevated hepatic transaminase, Nasal polyposis, Meconium ileus, Malabsorption, Rectal prolapse, N... ORPHA:586
Ring Chromosome 22 Syndrome
Bulbous nose, Wide nasal base, Thick vermilion border, Protruding tongue ORPHA:1446
Eosinophilic Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Nasal polyposis, Proteinuria, Intestinal obstruction, Malabs... ORPHA:183
Meckel Syndrome
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Pancreatic fibrosis, Aplasi... ORPHA:564
Otopalatodigital Syndrome Type 2
Depressed nasal bridge, Hypospadias, Ureteral obstruction, Pierre-Robin sequence, Cleft palate, G... ORPHA:90652
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Esophageal stenosis, Abnormality of the dentition, Cariou... ORPHA:1775
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Depressed nasal bridge, Bilateral renal dysplasia, Unilateral renal agenesis,... ORPHA:500150
Fraser Syndrome 3
Tracheal atresia, Hypoplasia of the bladder, Wide nose, Hypoplasia of penis, Ureteral agenesis, B... OMIM:617667
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Nasal polyposis OMIM:613808
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Tracheal atresia OMIM:601612
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Tented upper lip vermilion, Intestinal pseudo-obstruction, Decreas... ORPHA:273
Benign Schwannoma
Intestinal polyposis, Nasal polyposis, Abnormality of the liver, Abnormal parotid gland morpholog... ORPHA:252164
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Gastrointestinal hemorrhage, Elev... ORPHA:97280
Hypoglossia-Hypodactylia
Microglossia, Aglossia, Narrow mouth OMIM:103300
Meckel Syndrome, Type 1
Asplenia, Lobulated tongue, Accessory spleen, Malformation of the hepatic ductal plate, Cleft upp... OMIM:249000
Cowden Syndrome 1
Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, Ovarian cyst, Hydrocele testis, Hi... OMIM:158350
Otospondylomegaepiphyseal Dysplasia
Depressed nasal bridge, Anteverted nares, Cleft palate, Glossoptosis, Bifid uvula ORPHA:1427
Faciocardiomelic Dysplasia, Lethal
Microglossia, Narrow mouth OMIM:227270
Ciliary Dyskinesia, Primary, 5
Recurrent sinusitis, Nasal polyposis, Chronic rhinitis OMIM:608647
Meckel Syndrome, Type 4
Cleft palate, Bile duct proliferation, Renal cyst OMIM:611134
Tetraamelia Syndrome 1
Renal agenesis, Choanal atresia, Cleft upper lip, Asplenia, Single naris, Cleft palate, Urethral ... OMIM:273395
Acrodermatitis Enteropathica
Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis ORPHA:37
Spinocerebellar Ataxia 36
Tongue atrophy, Tongue fasciculations, Dysphagia OMIM:614153
Multiple Endocrine Neoplasia Type 2
Elevated urinary catecholamine level, Aganglionic megacolon, Thyroid C cell hyperplasia, Elevated... ORPHA:653
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Asplenia, Absent outer dynein arms, Anosmia, Chronic rhinitis OMIM:244400
Hereditary Folate Malabsorption
Gastroesophageal reflux, Recurrent urinary tract infections, Glossitis, Cheilitis ORPHA:90045
Cohen Syndrome
Macrodontia, Aplasia/Hypoplasia of the tongue, Prominent nasal bridge, Abnormality of the dentiti... ORPHA:193
Cleidocranial Dysplasia
Delayed eruption of teeth, Depressed nasal bridge, Abnormal dental enamel morphology, Abnormality... ORPHA:1452
Brachytelephalangic Chondrodysplasia Punctata
Broad nasal tip, Depressed nasal ridge, Nasal congestion, Short columella, Gastroesophageal reflu... ORPHA:79345
Ectodermal Dysplasia-Skin Fragility Syndrome
Urethral stricture, Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Cariou... ORPHA:158668
Peters-Plus Syndrome
Ureteral duplication, Thin upper lip vermilion, Short lingual frenulum, Hypospadias, Bilateral cl... OMIM:261540
Kinsship Syndrome
Thin upper lip vermilion, Bulbous nose, Thick lower lip vermilion, Renal hypoplasia, Horseshoe ki... OMIM:619297
Cranioectodermal Dysplasia 2
Cholangitis, Renal cyst, Fused teeth, High palate, Widely spaced teeth, Microdontia, Hepatomegaly... OMIM:613610
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Velopha... ORPHA:2751
Igg4-Related Kidney Disease
Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nephritis, Cholecy... ORPHA:449395
Geleophysic Dysplasia 1
Hepatomegaly, Anteverted nares, Wide mouth, Long philtrum, Tracheal stenosis, Short nose, Smooth ... OMIM:231050
Granulomatosis With Polyangiitis
Tracheal stenosis, Concave nasal ridge, Nasal mucosa vasculitis, Oral ulcer OMIM:608710
Tracheobronchopathia Osteochondroplastica
Tracheal stenosis, Esophagitis ORPHA:3348
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Underdeveloped nasal alae, Prominent nose, Wide nasal bridge, Tooth agenesis, Tracheal stenosis, ... ORPHA:2637
Cerebrocostomandibular Syndrome
Anal stenosis, Cleft soft palate, Ectopic kidney, Carious teeth, Cleft lip, Pierre-Robin sequence... OMIM:117650
Hallermann-Streiff Syndrome
Natal tooth, Choanal atresia, Underdeveloped nasal alae, Abnormality of the dentition, High, narr... ORPHA:2108
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Recurrent urinary tract infections, Severe periodontitis, Depressed nasal bridge, P... ORPHA:99843
Lethal Faciocardiomelic Dysplasia
Microglossia, Narrow mouth ORPHA:1972
Okamoto Syndrome
Ureteropelvic junction obstruction, Exaggerated median tongue furrow, Anal stenosis, Tented upper... ORPHA:2729
Spinocerebellar Ataxia Type 36
Tongue atrophy, Tongue fasciculations, Dysphagia ORPHA:276198
Kindler Syndrome
Anal stenosis, Esophageal stenosis, Phimosis, Carious teeth, Urethral stenosis, Gingivitis, Perio... OMIM:173650
Short-Rib Thoracic Dysplasia 12
Natal tooth, Hepatomegaly, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Splenom... OMIM:269860
Primary Ciliary Dyskinesia
Nasal polyposis, Intestinal malrotation, Asplenia, Nasal congestion, Chronic rhinitis, Polysplenia ORPHA:244
Intellectual Developmental Disorder, Autosomal Dominant 29
Thin upper lip vermilion, Wide nose, Dental crowding, Cryptorchidism, Narrow palate, High palate,... OMIM:616078
Lelis Syndrome
Carious teeth, Hypodontia, Furrowed tongue ORPHA:140936
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Wide mouth, Widely spaced teeth, Dysphagia, Protruding tongue ORPHA:98795
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatic steatosis, Wide nose, Membranoproliferative glomerulonephr... OMIM:619525
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Carious teeth, Glossoptosis ORPHA:93346
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Prominent nose, High, narrow palate, Deep philtrum, Downturned corners of mouth, Short philtrum, ... OMIM:619950
Cerebrotendinous Xanthomatosis
Cholelithiasis, Premature loss of teeth, Prolonged neonatal jaundice ORPHA:909
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Glossoptosis, Cleft palate ORPHA:440354
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Bulbous nose, Wide nasal bridge, High palate, Long philtrum, Vesicoureteral reflu... ORPHA:250989
Smith-Lemli-Opitz Syndrome
Dental crowding, Gastrointestinal dysmotility, Renal cyst, Gastroesophageal reflux, Micropenis, H... OMIM:270400
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, High, narrow palate, Enuresis nocturna, Pi... OMIM:615873
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis, Stage 5 chronic kidney disease, Nephronophthisis OMIM:610688
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Downturned corners of mouth, Choanal stenosis, Gastroesophageal reflux, Bifid uvula, Depressed na... OMIM:620186
Chromosome 17Q12 Deletion Syndrome
Elevated hepatic transaminase, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent... OMIM:614527
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Depressed nasal bridge, Protruding tongue, High palate, Everted lower lip vermilion, Open mouth, ... OMIM:617804
Distal 22Q11.2 Microdeletion Syndrome
Thin upper lip vermilion, Recurrent urinary tract infections, Prominent nasal bridge, Choanal atr... ORPHA:261330
Giant Cell Arteritis
Renal insufficiency, Epistaxis, Recurrent pharyngitis, Hematuria, Gastrointestinal infarctions, H... ORPHA:397
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Depressed nasal bridge, Splenomegaly, Renal cyst, Ch... OMIM:261515
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Tented upper lip vermilion, Widely-spaced maxillary central incisors, High palate, Gastroesophage... OMIM:309580
Gracile Bone Dysplasia
Asplenia, Micropenis, Ankyloglossia, Hypoplastic spleen OMIM:602361
Microsporidiosis
Cholangitis, Abnormality of the spleen, Abnormality of the parathyroid gland, Urethritis, Periton... ORPHA:2552
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Protruding tongue, Splenomegaly, Gingival overgrowth, Dysphagia, Narrow mouth OMIM:230600
Frontorhiny
Hypopituitarism, Bifid tongue, Midline nasal groove, Cleft palate ORPHA:391474
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Gastroesophageal reflux, Protruding tongue OMIM:614325
Joubert Syndrome 1
Anteverted nares, Protruding tongue, Renal cyst, Macroglossia, Hepatic fibrosis, Triangular-shape... OMIM:213300
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Renal insufficiency, Erosion of oral mucosa, Glomerulonephritis, Anal fissure... ORPHA:79408
Metachromatic Leukodystrophy, Adult Form
Urinary incontinence, Cholecystitis, Neoplasm of the gallbladder ORPHA:309271
Congenital Sialidosis Type 2
Hepatomegaly, Abnormality of the kidney, Protruding tongue, Gingival overgrowth, Hepatosplenomegaly ORPHA:93400
Angelman Syndrome Due To A Point Mutation
Wide mouth, Widely spaced teeth, Dysphagia, Protruding tongue ORPHA:411511
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Cleft palate,... OMIM:263520
Degcags Syndrome
Prominent nose, Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, High palate, Gastroesophag... OMIM:619488
Marshall-Smith Syndrome
Eclabion, Irregular dentition, Depressed nasal bridge, Anteverted nares, Choanal atresia, Bilater... OMIM:602535
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Neoplasm of the liver, Decreased liver function, Cirrh... ORPHA:77293
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Wide nose, Hypoplasia of penis, Depressed nasal bridge, Urethrovaginal fistula, Cleft upper lip, ... ORPHA:93271
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, Dysphagia, Gastroesophage... ORPHA:89842
Generalized Pustular Psoriasis
Elevated hepatic transaminase, Renal insufficiency, Geographic tongue, Cheilitis ORPHA:247353
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Polycystic liver disease, Proteinuria, Pancreatic fibrosis, Pancreatic cysts... OMIM:208500
Chondrodysplasia Punctata 2, X-Linked Dominant
Tracheal stenosis, Concave nasal ridge, Hydronephrosis OMIM:302960
Angelman Syndrome
Wide mouth, Macroglossia, Widely spaced teeth, Protruding tongue OMIM:105830
Catel-Manzke Syndrome
Cleft upper lip, Cryptorchidism, Pierre-Robin sequence, Cleft palate, Glossoptosis, Low insertion... OMIM:616145
Orofaciodigital Syndrome Type 14
Accessory oral frenulum, Hamartoma of tongue, Bilateral cryptorchidism, Epispadias, Bulbous nose,... ORPHA:434179
Brown-Vialetto-Van Laere Syndrome 1
Tongue atrophy, Tongue fasciculations, Dysphagia OMIM:211530
Distal Deletion 15Q
Thin upper lip vermilion, Multicystic kidney dysplasia, Hypospadias, Broad nasal tip, Abnormality... ORPHA:1596
Lenz-Majewski Hyperostotic Dwarfism
Hypospadias, Choanal atresia, Anterior pituitary hypoplasia, Abnormality of the dentition, Crypto... OMIM:151050
Stuve-Wiedemann Syndrome 1
Pursed lips, Anteverted nares, Carious teeth, Thin vermilion border, Smooth tongue, Dysphagia, Wi... OMIM:601559
Kawasaki Disease
Proteinuria, Recurrent pharyngitis, Jaundice, Cheilitis, Sterile pyuria, Hepatitis, Cholecystitis... ORPHA:2331
Agel Amyloidosis
Tongue atrophy, Proteinuria, Xerostomia, Stage 5 chronic kidney disease, Abnormal spleen morphology ORPHA:85448
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Thin upper lip vermilion, Anteverted nares, Hypospadias, Decreased response to growth hormone sti... ORPHA:444077
Pachyonychia Congenita 3
Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue OMIM:615726
Developmental And Epileptic Encephalopathy 100
Tented upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Protruding tongue, Gingival ... OMIM:619777
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Ankyloglossia OMIM:619352
Mowat-Wilson Syndrome
Dental crowding, Urinary incontinence, Cleft hard palate, Asplenia, Gastrointestinal dysmotility,... ORPHA:2152
Hydrolethalus Syndrome 1
Accessory spleen, Median cleft lip, Hypospadias, Cleft palate, Bifid nose, Midline defect of the ... OMIM:236680
Orofaciodigital Syndrome Xiv
Natal tooth, Hamartoma of tongue, Epispadias, Supernumerary tooth, Cleft lip, Cryptorchidism, Apl... OMIM:615948
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Wide mouth, Widely spaced teeth, Dysphagia, Protruding tongue ORPHA:98794
Pelvis-Shoulder Dysplasia
Thick anterior alveolar ridges, Microglossia, Hydronephrosis, Cleft palate ORPHA:2839
Simpson-Golabi-Behmel Syndrome, Type 1
Renal cyst, Hepatoblastoma, Exaggerated median tongue furrow, Hepatomegaly, Depressed nasal bridg... OMIM:312870
Cowden Syndrome
Abnormal penis morphology, Abnormality of the kidney, Enlarged polycystic ovaries, Furrowed tongu... ORPHA:201
Stickler Syndrome
Anteverted nares, Depressed nasal bridge, Abnormal dental enamel morphology, Cleft upper lip, Ope... ORPHA:828
Chilton-Okur-Chung Neurodevelopmental Syndrome
Anterior pituitary hypoplasia, Fetal pyelectasis, Short philtrum, Widely spaced teeth, Micropenis... OMIM:619841
Achondrogenesis, Type Ia
Hypoplastic nasal bridge, Anteverted nares, Depressed nasal bridge, Protruding tongue, Short nose OMIM:200600
Larsen Syndrome
Depressed nasal bridge, Cleft upper lip, Cryptorchidism, Cleft palate, Hypodontia, Tracheal stenosis OMIM:150250
Imerslund-Gräsbeck Syndrome
Glossitis, Proteinuria, Angular cheilitis ORPHA:35858
Charcot-Marie-Tooth Disease Type 1F
Tongue atrophy, Urinary incontinence ORPHA:101085
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glomerulopathy, Renal insufficiency, Ketonuria, Hemolytic-uremic syndrome, Jaundice, Methylmaloni... ORPHA:79282
Odontoonychodermal Dysplasia
Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary... OMIM:257980
Mucoepithelial Dysplasia, Hereditary
Hematuria, Erythematous oral mucosa, Melena, Furrowed tongue OMIM:158310
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Dental crowding, Urinary incontinence, Cleft hard palate, Asplenia, Short philtrum, Vesicouretera... ORPHA:261537
X-Linked Dystonia-Parkinsonism
Impaired oropharyngeal swallow response, Protruding tongue ORPHA:53351
Yunis-Varon Syndrome
Narrow nasal base, Hypospadias, Anteverted nares, Premature loss of primary teeth, Abnormality of... ORPHA:3472
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Aminoaciduria, Protein-losing enteropathy, Elevated hepat... OMIM:619991
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Recurrent urinary tract infections, Intestinal malrotation, Portal... OMIM:613658
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Microdontia, Oral leukoplakia, Furrowed tongue OMIM:148210
Williams-Beuren Syndrome
Rectal prolapse, Nephrocalcinosis, Gastroesophageal reflux, Vesicoureteral reflux, Microdontia, M... OMIM:194050
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, 3-Methylglutaconic aciduria, Bile duct proliferation, Macrovesicul... OMIM:618329
Angelman Syndrome
Abnormality of the gastrointestinal tract, Protruding tongue, Wide mouth, Gastroesophageal reflux... ORPHA:72
Autosomal Recessive Cutis Laxa Type 1
Recurrent urinary tract infections, Pyloric stenosis, Pyelonephritis, Urethral diverticulum, Mult... ORPHA:90349
Developmental And Epileptic Encephalopathy 31B
Gingival overgrowth, Protruding tongue OMIM:620352
Blomstrand Lethal Chondrodysplasia
Natal tooth, Depressed nasal bridge, Anteverted nares, Protruding tongue, Long philtrum, Short nose ORPHA:50945
Spondyloepimetaphyseal Dysplasia, Shohat Type
Tracheal stenosis, Hepatosplenomegaly ORPHA:93352
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Dental crowding, Urinary incontinence, Cleft hard palate, Asplenia, Short philtrum, Vesicouretera... ORPHA:261552
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Choanal atresia, Urethral valve, ... OMIM:107480
Cerebrocostomandibular Syndrome
Glossoptosis, Multicystic kidney dysplasia, Short hard palate, Cleft palate ORPHA:1393
Fontaine Progeroid Syndrome
Thin upper lip vermilion, Absent nipple, Depressed nasal bridge, Protruding tongue, High, narrow ... OMIM:612289
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated hepatic transaminase, Thin upper lip vermilion, Hepatic steatosis, Anteverted nares, Hyp... OMIM:619475
Pallister-Hall Syndrome
Ectopic kidney, Depressed nasal ridge, Gonadotropin deficiency, Micropenis, Bifid uvula, Antevert... ORPHA:672
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Vaginal hydrocele, Hematuri... ORPHA:2035
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aciduria, Microvesicular hepa... OMIM:203700
Carney Complex
Neoplasm of the stomach, Hepatocellular carcinoma, Leydig cell neoplasia, Ovarian serous cystaden... ORPHA:1359
Okur-Chung Neurodevelopmental Syndrome
Thin upper lip vermilion, Anteverted nares, Protruding tongue, Wide nasal bridge, High palate OMIM:617062
Charcot-Marie-Tooth Disease Type 4B2
Difficulty in tongue movements, Tongue atrophy ORPHA:99956
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Hepatic fibrosis, Gastroesophageal reflux, Intrahepatic bile duct ... OMIM:619534
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Duplicated collecting system, Cleft palate, Downturned corners of mouth, Annular pancreas, Ankylo... ORPHA:488642
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Hydronephrosis, Anal atresia OMIM:271520
Spondyloepiphyseal Dysplasia Congenita
Glossoptosis, Cleft palate ORPHA:94068
Cousin Syndrome
Microglossia, Alveolar ridge overgrowth, Hydronephrosis, Cleft palate OMIM:260660
Charcot-Marie-Tooth Disease Type 4C
Difficulty in tongue movements, Tongue atrophy, Tongue fasciculations ORPHA:99949
Sarcoidosis
Abnormality of the gastrointestinal tract, Hepatomegaly, Abnormal nasal mucosa morphology, Renal ... ORPHA:797
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Protruding tongue OMIM:619580
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Protruding tongue, Macroglossia, Gastroesophageal reflux, Dysphagia, Open mouth ORPHA:258
Bilateral Perisylvian Polymicrogyria
Ectopic posterior pituitary, Choanal atresia, Protruding tongue, Pseudobulbar paralysis, Gastroes... ORPHA:98889
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Tongue atrophy, Urinary incontinence ORPHA:466768
Viss Syndrome
Chronic gastritis, Depressed nasal bridge, Prominent nasal bridge, Duodenitis, Intestinal malrota... OMIM:619472
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Enamel hypoplasia, Smooth tongue, Oral mucosal blisters ORPHA:79396
Hutchinson-Gilford Progeria Syndrome
Delayed eruption of teeth, Dental crowding, Narrow nasal tip, Narrow nasal ridge, Short lingual f... ORPHA:740
Down Syndrome
Aganglionic megacolon, Protruding tongue, Duodenal stenosis, Macroglossia, Anal atresia OMIM:190685
Plague
Chapped lip, Hepatomegaly, Hematemesis, Splenomegaly, Enterocolitis, Inflammation of the large in... ORPHA:707
Stüve-Wiedemann Syndrome
Smooth tongue, Ectopic thyroid, Abnormality of the dentition ORPHA:3206
Neuroocular Syndrome
Short uvula, Submucous cleft hard palate, Downturned corners of mouth, Widely spaced teeth, Torus... OMIM:619539
Cardiac Valvular Dysplasia 1
Urethral diverticulum, Hydroureter, Hydronephrosis OMIM:212093
Microphthalmia, Syndromic 6
Cryptorchidism, Renal hypoplasia, Cleft palate, High palate, Microglossia, Anterior hypopituitari... OMIM:607932
Choreoacanthocytosis
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Protruding tongue, S... ORPHA:2388

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 Pou2af2

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 Pou2af2.

No publications found that use IMPC mice or data for Pou2af2.

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.

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter