Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
pre B cell leukemia homeobox 1
Synonyms:
Pbx-1,  Pbx1b,  2310056B04Rik,  Pbx1a,  D230003C07Rik

IMPC Data Collections

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

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.

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 Pbx1 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 Pbx1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Abnormal pinna morphology, Absence of renal corticomedullary differentiation, Ambiguous genitalia... OMIM:617641

The table below shows human diseases predicted to be associated to Pbx1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pancreas, Dorsal, Agenesis Of
Abnormality of the pancreas, Diabetes mellitus OMIM:167755
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus, Diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands, Swollen lip OMIM:619363
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia, ... OMIM:601186
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... OMIM:618204
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis OMIM:601820
Lipedema
Edema OMIM:614103
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Intestinal malrotation, Long philtrum, Pulmonary artery atresia, Ventricula... ORPHA:401935
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Gastroesophageal reflux, Secundum atrial septal defect, Bicornuate ute... OMIM:156810
Adrenal Hypoplasia, Cytomegalic Type
Primary adrenal insufficiency, Congenital adrenal hypoplasia OMIM:202155
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly OMIM:269840
Vacterl/Vater Association
Abnormal cardiac septum morphology, Cleft palate, Tracheoesophageal fistula, Anencephaly, Abnorma... ORPHA:887
Gillessen-Kaesbach-Nishimura Syndrome
Short neck, Pulmonary hypoplasia, Omphalocele, Short long bone, Flexion contracture, Narrow great... OMIM:263210
Mosaic Trisomy 9
High palate, Cleft palate, Abnormal liver lobulation, Short neck, Finger clinodactyly, Micromelia... ORPHA:99776
Angioedema, Hereditary, 5
Angioedema, Facial edema, Edema of the dorsum of hands, Swollen lip OMIM:619361
Oligomeganephronia
Renal tubular atrophy, Decreased glomerular filtration rate, Pulmonary venous occlusion, Unilater... ORPHA:2260
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Talipes equinovarus, Microretrognathia, Cutan... OMIM:236500
Methimazole Embryofetopathy
Abnormality of the thyroid gland, Tracheoesophageal fistula, Hypospadias, Coarctation of aorta, H... ORPHA:1923
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Nonimmune hydrops fetalis... OMIM:265380
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Hiatus hernia, Tracheoesophageal fistula, Horseshoe kidney, Perineal fistula, Anal ... ORPHA:2538
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:312863
Non-Syndromic Posterior Hypospadias
Anal atresia, Abnormality of the endocrine system, Congenital diaphragmatic hernia, Cleft palate,... ORPHA:95706
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Abnormal pinna morphology, Absence of renal corticomedullary differentiation, Ambiguous genitalia... OMIM:617641
Axial Mesodermal Dysplasia Spectrum
Tracheoesophageal fistula, Abnormality of the ureter, Short neck, Omphalocele, Anorectal anomaly,... ORPHA:1834
Fanconi Anemia, Complementation Group B
Duodenal atresia, Micropenis, Hypergonadotropic hypogonadism, Tracheoesophageal fistula, Renal ag... OMIM:300514
Rhyns Syndrome
Nephronophthisis, Hypoplastic ilia, Osteopenia, Multicystic kidney dysplasia, Hypopituitarism, Ab... ORPHA:140976
Atelosteogenesis Type I
Malrotation of colon, Cleft palate, Abnormal pancreatic duct morphology, Multiple renal cysts, Te... ORPHA:1190
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Intestinal malrotation, Multicystic kidney dysplasia, Abnormal... ORPHA:3032
Serkal Syndrome
Sex reversal, Congenital diaphragmatic hernia, Abnormal penis morphology, Hypospadias, Abnormalit... ORPHA:139466
Emanuel Syndrome
High palate, Cleft palate, Ventricular septal defect, Anal atresia, Long philtrum, Patent ductus ... OMIM:609029
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Renal hypoplasia/aplasia, High, narrow palate, Cleft palate, Renal agenesis, Abnormal lung lobati... ORPHA:2516
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Joint stiffness, Protruding ear, Renal hypoplasia/aplasia, Congenital diaphragmatic hernia, Cleft... ORPHA:1166
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Aortic valve stenosis, Pulmonic stenosis, Oligohydramnios, Cystic renal dysplasia, ... OMIM:615415
Feingold Syndrome 1
Annular pancreas, High palate, Duodenal atresia, Short palpebral fissure, Everted lower lip vermi... OMIM:164280
Angioedema, Hereditary, 8
Facial edema, Edema of the dorsum of hands, Angioedema, Laryngeal edema, Swollen lip OMIM:619367
Emanuel Syndrome
High palate, Multiple joint contractures, Cleft palate, Delayed eruption of teeth, Ventricular se... ORPHA:96170
Miller-Dieker Lissencephaly Syndrome
Thick upper lip vermilion, Abnormality of the abdominal wall, Duodenal atresia, Joint contracture... OMIM:247200
Branchiootorenal Syndrome 1
High palate, Cleft palate, Branchial fistula, Congenital hip dislocation, Renal steatosis, Euthyr... OMIM:113650
Fryns Syndrome
Wide mouth, Cleft palate, Facial hirsutism, Ventricular septal defect, Pulmonary hypoplasia, Tent... OMIM:229850
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Low-set ears, Overlapping toe, Gastroesophageal reflux, Joint hypermobility, Cleft palate, High, ... OMIM:618494
Adams-Oliver Syndrome 6
Splenomegaly, Ventricular septal defect, Renal hypoplasia, Hepatic fibrosis, Esophageal varix, Po... OMIM:616589
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Low-set ears, Micropenis, Renal agenesis, Hypospadias, Microtia, Craniosynostosis, Micrognathia, ... ORPHA:171839
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Abnormality of the tonsils, Decreased proportion of... OMIM:611926
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Tracheoesophageal fistula, Horseshoe kidney, Pancytopenia, Bone m... OMIM:227646
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
High palate, Overlapping toe, Micropenis, Unilateral renal agenesis, Postaxial polydactyly, Preax... OMIM:618142
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ventricular septal defect, Omphalocele, Colonic atresia, Jejunal atresia, Recurrent... OMIM:243150
Fanconi Anemia, Complementation Group F
Duodenal atresia, Atrial septal defect, Decreased response to growth hormone stimulation test, An... OMIM:603467
Cornelia De Lange Syndrome 1
High palate, Malrotation of colon, Hiatus hernia, Short sternum, Cleft palate, Otitis media, Hypo... OMIM:122470
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Rectal prolapse, Horseshoe kidney, Pericardial lymphangiectasia, Umbil... OMIM:235510
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Oral mucosal blisters, Ectropion, Congenital pyloric atresia, Enamel hypoplasia, Polyhydramnios, ... OMIM:226730
Double Outlet Right Ventricle
Hypoparathyroidism, Double outlet right ventricle, Narrow mouth, Hypoplastic left heart, Cleft pa... ORPHA:3426
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Protruding ear, Hypoplasia of penis, Aplasia/Hypoplasia of the fibula, Micrognathia, Aplasia of t... ORPHA:2256
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Splenomegaly, Unilateral renal agenesis, Cirrhosis, Postaxial polydactyly, Hip dysp... OMIM:614576
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
High palate, Double outlet right ventricle, Laryngomalacia, Anomalous pulmonary venous return, At... OMIM:619657
Esophageal Atresia
Cleft palate, Abnormal external genitalia, Tracheoesophageal fistula, Pyloric stenosis, Ventricul... ORPHA:1199
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Lipoma, Atrial septal defect, Alopecia, Limbal dermoid, Mul... OMIM:613001
Thymic Aplasia With Fetal Death
Abnormality of the endocrine system, Renal agenesis, Ureteral agenesis, Pulmonary hypoplasia, Tru... OMIM:274210
Fraser Syndrome
High palate, Ambiguous genitalia, Pulmonary hypoplasia, Umbilical hernia, Omphalocele, Encephaloc... ORPHA:2052
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus OMIM:612227
Jeune Syndrome
Nephronophthisis, Cone-shaped epiphysis, Nephropathy, Brachydactyly, Micromelia, Postaxial hand p... ORPHA:474
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Peripheral pulmonary artery stenosis, Bicuspid aortic valve, Labial hypoplasia, Bicornuate uterus... OMIM:300707
Retinitis Pigmentosa 42
Pallor OMIM:612943
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism, Adrenogenital syndrome OMIM:103900
Pallister-Hall Syndrome
Cleft palate, Decreased circulating cortisol level, Y-shaped metacarpals, Anteriorly placed anus,... OMIM:146510
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Meckel Syndrome, Type 1
Ambiguous genitalia, female, External genital hypoplasia, Cleft palate, Abnormality of the ureter... OMIM:249000
Carey-Fineman-Ziter Syndrome
High palate, Aplasia/Hypoplasia of the tongue, Cleft palate, Glossoptosis, Thin vermilion border,... ORPHA:1358
Inverted Duplicated Chromosome 15 Syndrome
High palate, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Talipes equinovarus, Precocious ... ORPHA:3306
Fraser Syndrome 1
Cleft palate, Pulmonary hypoplasia, Abnormality of the thymus, Clitoral hypertrophy, Encephalocel... OMIM:219000
Congenital Disorder Of Glycosylation, Type Iig
High palate, Cleft palate, Osteopenia, Short neck, Rhizomelia, Intrauterine growth retardation, T... OMIM:611209
Sweeney-Cox Syndrome
High palate, Low-set ears, Wide anterior fontanel, Short clavicles, Anal atresia, Gastroesophagea... OMIM:617746
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Marden-Walker Syndrome
High palate, Cleft palate, Short neck, Radioulnar synostosis, Pyloric stenosis, Pulmonary hypopla... OMIM:248700
Meier-Gorlin Syndrome 8
Microtia, Micrognathia, Renal hypoplasia, Low-set ears, Bilateral cryptorchidism, Intrauterine gr... OMIM:617564
Feingold Syndrome
Annular pancreas, Duodenal atresia, Short palpebral fissure, Abnormality of the spleen, Oral clef... ORPHA:1305
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Schizophrenia 1
Partially duplicated kidney, Short proximal phalanx of the 4th toe, Protruding ear, Renal agenesi... OMIM:181510
Caudal Regression Syndrome
Joint stiffness, Anal atresia, Abnormal iliac wing morphology, Talipes equinovarus, Renal agenesi... ORPHA:3027
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Diamond-Blackfan Anemia 10
Conductive hearing impairment, Steroid-responsive anemia, Congenital diaphragmatic hernia, Cleft ... OMIM:613309
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Duodenal atresia, Hypertrichosis, Muscular ventricular septal defect, Unilateral renal agenesis, ... OMIM:619227
Czeizel-Losonci Syndrome
High palate, Tracheoesophageal fistula, 2-3 finger syndactyly, Pulmonary hypoplasia, 1-2 finger s... ORPHA:2437
Cutis Laxa, Autosomal Dominant 3
Protruding ear, Talipes equinovarus, Cutis laxa, Adducted thumb, Unilateral renal agenesis, Osteo... OMIM:616603
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Hypoparathyroidism, Adrenal insufficiency, Chronic active hepatitis, Decreased ci... OMIM:240300
Short-Rib Thoracic Dysplasia 12
Abnormal pinna morphology, Hepatomegaly, Short neck, Anencephaly, Lobulated tongue, Ambiguous gen... OMIM:269860
Retinitis Pigmentosa 81
Pallor OMIM:617871
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Cleft soft palate, Downslanted palpebral fissures, Esophageal atresia, Smoo... OMIM:614526
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Feingold Syndrome Type 1
Tricuspid atresia, Anal atresia, Duodenal atresia, Nephritis, Short palpebral fissure, Tricuspid ... ORPHA:391641
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Abnormal renal tubule morphology, Abnormality ... ORPHA:93101
Chromosome 22Q11.2 Deletion Syndrome, Distal
Cleft palate, Smooth philtrum, Thin upper lip vermilion, Highly arched eyebrow, Truncus arteriosus OMIM:611867
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Cleft palate, Unilateral renal agenesis, Ventricular septal defect, Hydranencephaly, Truncus arte... OMIM:601355
Meacham Syndrome
Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal defect, Ambiguous ... ORPHA:3097
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:256450
Prune Belly Syndrome
Abnormality of the ureter, Aplasia of the abdominal wall musculature, Ventricular septal defect, ... ORPHA:2970
Matthew-Wood Syndrome
Annular pancreas, Intrauterine growth retardation, Low-set ears, Congenital diaphragmatic hernia,... ORPHA:2470
Orofaciodigital Syndrome Xvii
Low-set ears, High, narrow palate, Micropenis, Retrognathia, Partial duplication of thumb phalanx... OMIM:617926
Trisomy 18
Cleft palate, Abnormality of the upper urinary tract, Anencephaly, Ventricular septal defect, Omp... ORPHA:3380
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Wide mouth, High, narrow palate, Sparse hair, Upslanted palpebral fissure, Absent lacrimal punctu... OMIM:273390
Fetal Minoxidil Syndrome
Ventricular septal defect, Generalized hirsutism, Cryptorchidism, Umbilical hernia ORPHA:1918
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Cervical lymphadenopathy, B lymphocytopenia OMIM:618987
Burn-Mckeown Syndrome
Conductive hearing impairment, Protruding ear, 2-3 toe syndactyly, Inguinal hernia, Cleft palate,... OMIM:608572
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Sex reversal, Congenital diaphragmatic hernia, Cleft palate, Renal agenesis, Hypospadias, Bilater... OMIM:611812
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
High palate, Supernumerary nipple, Inguinal hernia, Micropenis, Highly arched eyebrow, Arteria lu... OMIM:618653
Distal Monosomy 12Q
Biliary atresia, Pyloric stenosis, Downslanted palpebral fissures, Congenital hypertrophy of left... ORPHA:96149
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Hypertelorism, Microtia, Facial Clefting Syndrome
Conductive hearing impairment, 2-3 toe syndactyly, Cleft palate, Microtia, Small thenar eminence,... OMIM:239800
Split-Hand/Foot Malformation 3
High palate, Abnormal pinna morphology, Microretrognathia, Cleft palate, Camptodactyly, Renal hyp... OMIM:246560
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Hypospadias, Tracheoesophageal fistula, Ventricular septal defect, Patent du... ORPHA:77298
Maternal Phenylketonuria
High palate, Double outlet right ventricle, Hypoplastic left heart, Long philtrum, Coarctation of... ORPHA:2209
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Cleft palate, Upslanted palpebral fissure, Ventricular septal defect, Deep ... OMIM:610536
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal antihelix morphology, Abnormal pinna morphology, Elbow ankylosis, Abnormal external geni... ORPHA:95699
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
High palate, Cone-shaped epiphyses of the phalanges of the hand, Hepatomegaly, Nephronophthisis, ... OMIM:266920
Coffin-Siris Syndrome 11
High palate, Wide mouth, Bifid uvula, Low posterior hairline, Downturned corners of mouth, Esopha... OMIM:618779
Fanconi Anemia, Complementation Group C
Absent thumb, Hypergonadotropic hypogonadism, Horseshoe kidney, Complete duplication of thumb pha... OMIM:227645
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Nephronophthisis, Micromelia, Delayed eruptio... OMIM:184260
Lethal Congenital Contracture Syndrome 10
High palate, Narrow palate, Hypoplasia of the thymus, Hydrops fetalis, Long philtrum, Oligohydram... OMIM:617022
Focal Dermal Hypoplasia
Hypoplastic pelvis, Abnormal epiphysis morphology, Horseshoe kidney, Umbilical hernia, Omphalocel... ORPHA:2092
Mosaic Trisomy 1
Abnormal pinna morphology, Cleft palate, 2-3 finger syndactyly, Finger clinodactyly, Hepatic agen... ORPHA:1692
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Hepatic cysts, Enlarged kidn... OMIM:208540
Schinzel-Giedion Syndrome
High palate, Abnormal helix morphology, Hepatoblastoma, Infantile sensorineural hearing impairmen... ORPHA:798
Fanconi Anemia, Complementation Group A
Neutropenia, Absent thumb, Renal agenesis, Anemia, Anemic pallor, Hypergonadotropic hypogonadism,... OMIM:227650
12Q14 Microdeletion Syndrome
Clinodactyly of the 5th finger, Intestinal malrotation, Micrognathia, Abnormality of the spleen, ... ORPHA:94063
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Cleft palate, Abnormal hip bone morphology, Overfolded helix, Retrognathia, Camptodactyly of fing... ORPHA:2631
Distal Trisomy 6P
Micrognathia, Abnormality of the urinary system, Short neck, Dry skin, Abnormal lung lobation, Re... ORPHA:1745
Fanconi Anemia, Complementation Group E
Neutropenia, Absent thumb, Renal agenesis, Anemia, Anemic pallor, Hypergonadotropic hypogonadism,... OMIM:600901
Pseudoaminopterin Syndrome
High palate, Slender finger, Clinodactyly of the 4th finger, Sagittal craniosynostosis, Horseshoe... ORPHA:221120
Trisomy 1Q
Cleft palate, Ambiguous genitalia, Omphalocele, Abnormality of the outer ear, Small scrotum, Anal... ORPHA:261344
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Acrocephalopolydactyly
Microtia, Hepatosplenomegaly, Short neck, Brachydactyly, Abnormal renal morphology, Limb undergro... ORPHA:221054
Braddock Syndrome
Unilateral renal agenesis, Overfolded helix, Preaxial hand polydactyly, Short neck, Micrognathia,... ORPHA:52047
Congenital Tracheomalacia
Tracheoesophageal fistula, Ventricular septal defect, Pulmonary hypoplasia, Pneumonia, Cardiomega... ORPHA:95430
Opitz Gbbb Syndrome
High palate, Posterior pharyngeal cleft, Cleft palate, Ventricular septal defect, Solitary median... OMIM:300000
Mayer-Rokitansky-K├╝ster-Hauser Syndrome Type 2
Bicornuate uterus, Renal agenesis, Short neck, Aplasia/hypoplasia of the uterus, Renal dysplasia,... ORPHA:2578
Even-Plus Syndrome
High palate, Epiphyseal dysplasia, Anal atresia, Microtia, Recurrent urinary tract infections, Sh... OMIM:616854
Kagami-Ogata Syndrome
Diastasis recti, Laryngomalacia, Hepatomegaly, Atrial septal defect, Flexion contracture, Splenom... OMIM:608149
Coach Syndrome 1
Hepatomegaly, Nephronophthisis, Intrahepatic bile duct dilatation, Unilateral renal agenesis, Spl... OMIM:216360
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Absence of lymph node germ... OMIM:619924
Craniofrontonasal Dysplasia
Sensorineural hearing impairment, High palate, Clinodactyly of the 5th finger, Congenital diaphra... ORPHA:1520
Cat Eye Syndrome
Tricuspid atresia, Cleft palate, Biliary atresia, Ventricular septal defect, Downslanted palpebra... OMIM:115470
Femoral-Facial Syndrome
Low-set ears, Coxa vara, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the tibia, Talipes equin... ORPHA:1988
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Congenital hip dislocation, Hypoplastic pelvis, Pulmonary hypoplasia, Thyroid hypoplasia, Umbilic... OMIM:308050
Myoectodermal Gonadal Dysgenesis Syndrome
Overfolded helix, Clitoral hypoplasia, Pyloric stenosis, Bifid distal phalanx of the thumb, Ompha... OMIM:618419
Transient Neonatal Diabetes Mellitus
Hypoinsulinemia, Macroglossia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Abnor... ORPHA:99886
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Autism Spectrum Disorder Due To Auts2 Deficiency
Narrow mouth, Atrial septal defect, Joint contracture of the hand, Inguinal hernia, Short palpebr... ORPHA:352490
Intellectual Disability-Strabismus Syndrome
High palate, Recurrent gastroenteritis, Short neck, Rocker bottom foot, Intrauterine growth retar... ORPHA:363528
Tonne-Kalscheuer Syndrome
Narrow mouth, Velopharyngeal insufficiency, Congenital diaphragmatic hernia, Micropenis, Hypospad... OMIM:300978
Tessadori-Van Haaften Neurodevelopmental Syndrome 4
Low-set ears, 2-3 toe syndactyly, Supernumerary nipple, Joint hypermobility, Micropenis, Unilater... OMIM:619951
Heme Oxygenase 1 Deficiency
Hepatomegaly, Nephritis, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Elevated cir... OMIM:614034
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Laryngomalacia, Hiatus hernia, Gastroesophageal reflux, Persistence of primary teeth, Atrial sept... OMIM:619769
Mosaic Trisomy 14
High palate, Ectopic anus, Hypoplasia of penis, Cleft palate, Microtia, Hypospadias, Camptodactyl... ORPHA:1703
Immunodeficiency 97 With Autoinflammation
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... OMIM:619802
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... ORPHA:169154
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Hiatus hernia, Osteopenia, Cholestasis, Pancreatic hypoplasia, Sagittal craniosynos... OMIM:610199
Short Rib-Polydactyly Syndrome
Nephronophthisis, Cleft palate, Cone-shaped epiphysis, Micromelia, Hepatic cysts, Bowing of the l... ORPHA:1505
Bresek Syndrome
Intrauterine growth retardation, Low-set ears, Protruding ear, Cleft palate, Hypoplasia of the bl... ORPHA:85284
Short Stature, Microcephaly, And Endocrine Dysfunction
Sensorineural hearing impairment, Lymphopenia, Inguinal hernia, Micropenis, Unilateral renal agen... OMIM:616541
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cleft palate, Osteopenia, Short neck, Pulmonary hypoplasia, Intrauterine growth retardation, Flex... OMIM:616897
Klippel-Feil Syndrome 1, Autosomal Dominant
Sensorineural hearing impairment, Conductive hearing impairment, Webbed neck, Cervical C2/C3 vert... OMIM:118100
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Renal Tubular Dysgenesis
Nephropathy, Renotubular dysgenesis, Multiple renal cysts, Tetralogy of Fallot, Polyhydramnios, P... ORPHA:3033
Craniosynostosis, Herrmann-Opitz Type
Abnormal antihelix morphology, Webbed neck, Cleft palate, Microtia, Craniosynostosis, Abnormality... ORPHA:2145
Diaphanospondylodysostosis
Nephrogenic rest, Cleft palate, Abnormal liver lobulation, Short neck, Enlarged kidney, Hammertoe... OMIM:608022
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Unilateral renal agenesis, Rhizomelia, Renal hypoplasia, Anteriorly place... OMIM:617661
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Aminoaciduria, Flexion contracture, Retrognathia, Anisocytosis, Micrognathia, Campt... OMIM:604273
Vacterl With Hydrocephalus
Anal atresia, Renal hypoplasia/aplasia, Inguinal hernia, Renal agenesis, Tracheoesophageal fistul... ORPHA:3412
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Wide mouth, Ventricular septal defect, Downslanted palpebral fissures, Long eyelashes, Umbilical ... ORPHA:329224
Senior-Loken Syndrome
Chronic kidney disease, Nephronophthisis, Cone-shaped epiphysis, Abnormality of bone mineral dens... ORPHA:3156
Pallister-Hall-Like Syndrome
Cleft palate, Micropenis, Anterior hypopituitarism, Renal dysplasia, Pulmonary hypoplasia, Median... OMIM:241800
Fanconi Anemia, Complementation Group Q
Primum atrial septal defect, Biliary atresia, Anteriorly placed anus, Bone marrow hypocellularity... OMIM:615272
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
High palate, Wide mouth, Reduced subcutaneous adipose tissue, Muscular ventricular septal defect,... OMIM:619503
Charge Syndrome
Labial hypoplasia, External genital hypoplasia, Cleft palate, Tracheoesophageal fistula, Ventricu... OMIM:214800
Pentalogy Of Cantrell
Atrial septal defect, Congenital diaphragmatic hernia, Cleft palate, Abnormal pericardium morphol... ORPHA:1335
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Osteopenia, Avascular necrosis of the capital fem... OMIM:611555
Acrocallosal Syndrome
Sensorineural hearing impairment, Wide anterior fontanel, Congenital diaphragmatic hernia, Inguin... ORPHA:36
22Q11.2 Deletion Syndrome
Cholelithiasis, Tricuspid atresia, Cleft palate, Abnormality of the dentition, Short philtrum, Ca... ORPHA:567
Acrorenal Syndrome, Autosomal Recessive
Split hand, Split foot, Renal hypoplasia, Decreased numbers of nephrons, Renal insufficiency, Cli... OMIM:201310
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Atrial septal defect, Hypospadias, Tetralogy of Fallot, Pulmonary ... OMIM:618316
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Conductive hearing impairment, Decreased response to growth horm... OMIM:609053
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Renal hypoplasia/aplasia, Cleft palate, Abnormality of the ureter, Abnormal hair pattern, Gonadal... ORPHA:1770
Meckel Syndrome
Aplasia/Hypoplasia of the tongue, Cleft palate, Anencephaly, Ambiguous genitalia, Furrowed tongue... ORPHA:564
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Abnormal pinna morphology, Micrognathia, Syndactyly, Neonatal death, Hypoplasia of the ulna, Meso... OMIM:228940
Retinitis Pigmentosa 60
Pallor OMIM:613983
Van Esch-O'Driscoll Syndrome
Wide mouth, Pulmonary valve atresia, Atrial septal defect, Short palpebral fissure, Upslanted pal... OMIM:301030
15Q24 Microdeletion Syndrome
Myelomeningocele, Anal atresia, Abnormality of toe, Decreased response to growth hormone stimulat... ORPHA:94065
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Abnormality of the kidney, Cystic renal dysplasia, Ectopic kidney, Cryptorchidism OMIM:613730
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
High palate, Cleft palate, Short uvula, Micromelia, Pulmonary hypoplasia, Bowing of the long bone... OMIM:614091
Fryns Syndrome
High palate, Wide mouth, Abnormal cardiac septum morphology, Cleft palate, Pulmonary hypoplasia, ... ORPHA:2059
Autosomal Recessive Multiple Pterygium Syndrome
High palate, Abnormality of the tongue, Cleft palate, Aplasia/Hypoplasia of the abdominal wall mu... ORPHA:2990
Frontometaphyseal Dysplasia 2
High palate, Cleft palate, Short philtrum, Pyloric stenosis, Downslanted palpebral fissures, Subg... OMIM:617137
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Conductive hearing impairment, Hypoplasia of the uterus, Bicornuate uterus, Cleft palate, Unilate... OMIM:601076
Distal Limb Deficiencies-Micrognathia Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, High palate, Microretrognathia, ... ORPHA:1307
Cardiocranial Syndrome, Pfeiffer Type
High, narrow palate, Sparse hair, Micropenis, Abnormal hair whorl, Hypospadias, Bifid uvula, Down... ORPHA:2872
Williams Syndrome
Cholelithiasis, Wide mouth, Abnormal cardiac septum morphology, Stroke, Abnormal carotid artery m... ORPHA:904
Renal Cysts And Diabetes Syndrome
Exocrine pancreatic insufficiency, Glycosuria, Gout, Biliary tract abnormality, Pancreatic hypopl... OMIM:137920
Takenouchi-Kosaki Syndrome
Sensorineural hearing impairment, Low-set ears, Overlapping toe, Webbed neck, Dental malocclusion... OMIM:616737
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Sensorineural hearing impairment, Low-set ears, Dental malocclusion, Hypoplasia of penis, Bifid s... ORPHA:85321
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Cleft palate, Tracheoesophageal fistula, Abnormality of the hypothalamus-pit... ORPHA:3157
Dextrocardia
Webbed neck, Intestinal malrotation, Abnormality of the ureter, Aplasia/Hypoplasia of the ear, Ab... ORPHA:1666
Cenani-Lenz Syndrome
Protruding ear, Renal hypoplasia/aplasia, Finger syndactyly, High, narrow palate, Hypoplasia of t... ORPHA:3258
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Duodenal atresia, Flexion contracture of finger, Gastroesophageal reflux, Aortic valve stenosis, ... ORPHA:464311
Severe Generalized Junctional Epidermolysis Bullosa
Alopecia, Ureteral obstruction, Urinary retention, Pneumonia, Erosion of oral mucosa, Gastrointes... ORPHA:79404
Coach Syndrome 3
Renal interstitial inflammation, Renal tubular atrophy, Nephronophthisis, Renal interstitial fibr... OMIM:619113
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia, Cleft palate, Hand polydactyly OMIM:236110
Fetal Encasement Syndrome
Congenital diaphragmatic hernia, Upper limb undergrowth, Horseshoe kidney, Thin skin, Omphalocele... OMIM:613630
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Sensorineural hearing impairment, Abnormality of the endocrine system, Cryptorchidism, Short four... ORPHA:464288
Fanconi Anemia, Complementation Group L
Anal atresia, Webbed neck, Absent thumb, Micropenis, Unilateral renal agenesis, Microtia, Anemia,... OMIM:614083
Multicentric Carpotarsal Osteolysis Syndrome
Ulnar deviation of the hand, Bilateral renal atrophy, Congenital diaphragmatic hernia, Metatarsal... OMIM:166300
Nager Syndrome
Joint stiffness, Cleft palate, Microtia, Unilateral renal agenesis, Hypoplasia of the radius, Mic... ORPHA:245
Degcags Syndrome
High palate, Hepatomegaly, Abnormal renal medulla morphology, Hiatus hernia, Craniosynostosis, Os... OMIM:619488
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Pulmonary hypoplasia, Arthrogryposis multiplex congenita, K... OMIM:616531
Dyrk1A-Related Intellectual Disability Syndrome
Multiple joint contractures, Duodenal atresia, Gastroesophageal reflux, Aortic valve stenosis, Mi... ORPHA:464306
Van Maldergem Syndrome 2
High palate, Short fourth metatarsal, Osteopenia, Hypoplasia of the maxilla, Talipes equinovarus,... OMIM:615546
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Sensorineural hearing impairment, Cryptorchidism, Micrognathia, Down-sloping shoulders, Hypothyro... OMIM:616817
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis, Hearing impairment, Aganglionic megacolon, Hand polydactyly OMIM:235740
Combined Immunodeficiency-Enteropathy Spectrum
Intestinal atresia, Sparse hair, Absent eyebrow, Intestinal malrotation, Hypoplasia of the thymus... ORPHA:436252
Bartsocas-Papas Syndrome 1
Absent thumb, Cleft palate, Short neck, Ambiguous genitalia, Hypoplasia of the maxilla, Omphaloce... OMIM:263650
Intellectual Developmental Disorder, Autosomal Dominant 26
Wide mouth, Narrow mouth, Thick eyebrow, Short palpebral fissure, Inguinal hernia, Upslanted palp... OMIM:615834
Developmental Delay With Or Without Dysmorphic Facies And Autism
Laryngotracheomalacia, Low-set ears, Clinodactyly of the 5th finger, Supernumerary nipple, Congen... OMIM:618454
Hardikar Syndrome
Hepatomegaly, Hepatic failure, Hypoplasia of the bladder, Cholestasis, Bladder exstrophy, Ventric... OMIM:301068
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
2-3 toe syndactyly, Joint contracture of the 4th finger, Inguinal hernia, Retrognathia, Small the... OMIM:618914
Oeis Complex
Labial hypoplasia, Ambiguous genitalia, female, Bifid uterus, Bladder exstrophy, Anteriorly place... OMIM:258040
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Eosinophilic microabscess formation in the esophagus, Gastroesophageal reflux, Eosinophilic infil... ORPHA:411696
Gastroschisis
Abnormality of mesentery morphology, Intestinal atresia, Gastroschisis ORPHA:2368
Kindler Epidermolysis Bullosa
Cheilitis, Carious teeth, Neoplasm of the urethra, Colitis, Flexion contracture, Inflammation of ... ORPHA:2908
Autosomal Recessive Spondylocostal Dysostosis
Anomalous pulmonary venous return, Congenital diaphragmatic hernia, Inguinal hernia, Cleft palate... ORPHA:2311
Fanconi Anemia, Complementation Group P
Cryptorchidism, Short palpebral fissure, Horseshoe kidney, Pancytopenia, Pelvic kidney, Anemia, B... OMIM:613951
Williams-Beuren Region Duplication Syndrome
High palate, Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Ov... OMIM:609757
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
2Q37 Microdeletion Syndrome
Conductive hearing impairment, Clinodactyly of the 5th finger, Supernumerary nipple, Congenital d... ORPHA:1001
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Inguinal hernia, Cleft palate, Unilateral renal agenesis, Multicystic kidney dysplasia, Dry skin,... OMIM:308205
Tetraamelia Syndrome 1
Anal atresia, Urethral atresia, Congenital diaphragmatic hernia, Absent external genitalia, Cleft... OMIM:273395
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Flexion contracture of thumb, Narrow mouth, Thick eyebrow, Short nail, Bifid scrotum, Flexion con... ORPHA:324540
Hennekam Syndrome
Lymphangioma, Craniosynostosis, Delayed eruption of teeth, Pyloric stenosis, Horseshoe kidney, Ma... ORPHA:2136
Genitopalatocardiac Syndrome
Low-set ears, Gonadal dysgenesis, male, Congenital diaphragmatic hernia, Cleft palate, Hypospadia... ORPHA:2075
Opitz Gbbb Syndrome
High palate, Cleft palate, Tracheoesophageal fistula, Ventricular septal defect, Downslanted palp... ORPHA:2745
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis, Triphalangeal thumb OMIM:256690
Intellectual Developmental Disorder, X-Linked 99
Gastroesophageal reflux, Tracheomalacia, Hypospadias, Broad hallux, Broad thumb, Ectopic kidney, ... OMIM:300919
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Talipes equinovarus, Unilateral renal agenesis, Bilateral renal agenesis, Vertebral fusion, Urete... OMIM:618845
Duane-Radial Ray Syndrome
Absent thumb, Hypoplasia of the radius, Hypoplasia of the ulna, Horseshoe kidney, Sandal gap, Ana... OMIM:607323
Hypertelorism-Microtia-Facial Clefting Syndrome
Conductive hearing impairment, Microtia, Crossed fused renal ectopia, Atresia of the external aud... ORPHA:2213
Neutropenia, Severe Congenital, 4, Autosomal Recessive
High palate, Hepatomegaly, Cleft palate, Urachus fistula, Cor triatriatum, Splenomegaly, Recurren... OMIM:612541
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Biliary atresia, Glycosuria, Pancreatic hypoplasia, Ventricular sept... OMIM:600001
Donnai-Barrow Syndrome
Sensorineural hearing impairment, Wide anterior fontanel, Congenital diaphragmatic hernia, Bicorn... ORPHA:2143
Acrocardiofacial Syndrome
Cleft upper lip, Anal atresia, Mitral stenosis, Atrial septal defect, Hypoplasia of penis, Cleft ... ORPHA:2008
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Acetabular spurs, Hepatomegaly, Supernumerary nipple, Inguinal hernia, Chronic tubulointerstitial... OMIM:614376
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Intrahepatic biliary atresia, Jaundice, Cholestatic liver disease, Renal tu... OMIM:208085
Microphthalmia, Syndromic 12
Bicornuate uterus, Congenital diaphragmatic hernia, Hypoplastic left atrium, Ventricular septal d... OMIM:615524
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida, Exocrine pancreatic insufficiency, Bicuspid aortic valve, Hypertrichosis, Short pal... ORPHA:508498
Distal Tetrasomy 15Q
Hydrocele testis, High palate, Abnormal helix morphology, Abnormal external genitalia, Craniosyno... ORPHA:314588
Beckwith-Wiedemann Syndrome
Posterior helix pit, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatoblastoma, Cleft palat... ORPHA:116
Van Maldergem Syndrome 1
High palate, Short fourth metatarsal, Osteopenia, Hypoplasia of the maxilla, Anteriorly placed an... OMIM:601390
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cleft palate, Lobulated tongue, Hypoplastic pelvis, Rhizomelia, Ambiguous genitalia, Pulmonary hy... OMIM:616300
Phosphoribosylaminoimidazole Carboxylase Deficiency
Tracheoesophageal fistula, Coronal hypospadias, Polyhydramnios, Bilateral cryptorchidism, Esophag... OMIM:619859
Hadziselimovic Syndrome
High palate, Anal atresia, Pulmonary artery atresia, Renal hypoplasia, Low-set ears, Posteriorly ... OMIM:612946
Laryngotracheoesophageal Cleft Type 4
Laryngomalacia, Abnormal cardiac septum morphology, Intestinal atresia, Tracheoesophageal fistula... ORPHA:93941
Syndromic Diarrhea
Hepatomegaly, Hepatoblastoma, Gastritis, Ventricular septal defect, Abnormal heart morphology, Pe... ORPHA:84064
Vater/Vacterl Association
Anal atresia, Renal agenesis, Tracheoesophageal fistula, Hypospadias, Occipital encephalocele, Te... OMIM:192350
Thanatophoric Dysplasia
Joint stiffness, Abnormality of the kidney, Hip dysplasia, Redundant skin, Brachydactyly, Microme... ORPHA:2655
Meacham Syndrome
Blind vagina, Congenital alveolar dysplasia, Enlarged kidney, Ventricular septal defect, Pulmonar... OMIM:608978
Imagawa-Matsumoto Syndrome
Hypertrichosis, Camptodactyly, Downslanted palpebral fissures, Anteriorly placed anus, Umbilical ... OMIM:618786
Pallister-Hall Syndrome
Central adrenal insufficiency, Cleft palate, Ambiguous genitalia, Thyroid hypoplasia, Umbilical h... ORPHA:672
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Cone-shaped epiphyses of the phalanges of the hand, Hepatomegaly, Nephron... OMIM:615630
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Jaundice, Cleft palate, Aminoaciduria, Joint contracture of the hand, Upslanted pal... OMIM:214110
Congenital Hypothyroidism
Nephrolithiasis, Sinusitis, Abnormality of the thyroid gland, Prolonged neonatal jaundice, Macrog... ORPHA:442
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Cryptorchidism, Cleft palate, Finger joint hypermobility, Unilateral renal agenesis, Micropenis, ... OMIM:244200
Roifman-Chitayat Syndrome
Osteopenia, Cone-shaped epiphysis, Short neck, Arthritis, Ectopic kidney, Umbilical hernia, Pneum... OMIM:613328
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... ORPHA:3384
Digeorge Syndrome
Hydrocele testis, Cholelithiasis, High palate, Cleft palate, Ovarian cyst, Short philtrum, Ventri... OMIM:188400
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Hydrocele testis, High palate, Cleft palate, Overfolded helix, Pulmonary hypoplasia, Short distal... OMIM:614080
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Unilateral renal agenesis, Testicular seminoma, Renal insufficiency,... ORPHA:281090
Cartilage-Hair Hypoplasia
Malabsorption, Lymphopenia, Sparse hair, Sparse eyebrow, Congenital hypoplastic anemia, Fair hair... OMIM:250250
Rhombencephalosynapsis
Anal atresia, Narrow mouth, Tracheoesophageal fistula, Abnormal renal morphology, Abnormality of ... ORPHA:59315
Anencephaly 2
Median cleft palate, Median cleft lip, Cleft of alveolar ridge of maxilla OMIM:619452
Atelosteogenesis Type Ii
Cleft palate, Bilateral cleft palate, Long philtrum, Camptodactyly, Telecanthus, Polyhydramnios, ... ORPHA:56304
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Acrorenal-Mandibular Syndrome
Absent nipple, Aplasia of the bladder, High palate, Hypoplasia of the radius, Uterus didelphys, A... OMIM:200980
Apert Syndrome
Ectopic anus, Dental malocclusion, Narrow palate, Cleft palate, Shallow orbits, Bifid uvula, Dela... OMIM:101200
Diabetic Embryopathy
Renal hypoplasia/aplasia, Abnormality of the neck, Cleft palate, Micropenis, Microtia, Micrognath... ORPHA:1926
Oculoauriculovertebral Spectrum With Radial Defects
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the middle ear os... ORPHA:2549
Mirage Syndrome
Adrenal insufficiency, Lymphopenia, Gastroesophageal reflux, Aspiration pneumonia, Hypergonadotro... OMIM:617053
Uvula, Bifid
Bifid uvula OMIM:192100
Peroxisome Biogenesis Disorder 1A (Zellweger)
High palate, Hepatomegaly, Abnormal helix morphology, Pulmonary hypoplasia, Clitoral hypertrophy,... OMIM:214100
Tessadori-Van Haaften Neurodevelopmental Syndrome 1
Clinodactyly of the 5th finger, Absence of renal corticomedullary differentiation, Hepatic failur... OMIM:619758
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Upslanted palpebral fissure, Pancreatic fibrosis, Cystic renal d... OMIM:200995
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Cleft palate, Micromelia, Hammertoe, Ambiguous genitalia, Pyloric stenosis, Pulmona... OMIM:270400
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Clinodactyly of the 3rd finger, Cone-shaped epiphysis, Clinodactyly of the 4th finger, Osteopenia... ORPHA:221139
Acrodysostosis 1 With Or Without Hormone Resistance
Cone-shaped epiphyses of the phalanges of the hand, Elevated circulating parathyroid hormone leve... OMIM:101800
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Follicular hyperplasia, Autoimmune thrombocytopenia, Decreased proportion of class-s... OMIM:619846
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
High palate, Cleft palate, Tapered finger, Pulmonary hypoplasia, Mandibular prognathia, Hand clen... OMIM:618975
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
High palate, Hip contracture, Protruding ear, Internally rotated shoulders, Talipes equinovarus, ... OMIM:617468
Acro-Renal-Mandibular Syndrome
High palate, Aplasia/Hypoplasia of the tongue, Hypoplasia of the radius, Uterus didelphys, Trache... ORPHA:958
Scimitar Syndrome
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... ORPHA:185
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Ectopic anus, Anal atresia, Cleft upper lip, Hypoplasia of penis, Bifid epiglottis, Uterus didelp... ORPHA:93271
Sialidosis Type 2
Hepatomegaly, Flexion contracture, Splenomegaly, Inguinal hernia, Hydrops fetalis, Nephropathy, P... ORPHA:87876
Williams-Beuren Syndrome
Stroke, Myxomatous mitral valve degeneration, Microdontia, Ventricular septal defect, Rectal prol... OMIM:194050
Multiple Pterygium Syndrome, Escobar Variant
High palate, Multiple joint contractures, Cleft palate, Weakness of facial musculature, Down-slop... OMIM:265000
Duane Retraction Syndrome
Cleft palate, Hypoplasia of the radius, Short neck, Anorectal anomaly, Skeletal muscle atrophy, T... ORPHA:233
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Left ventricular hypertrophy, Renal dysplasia, Abnormal renal corticomedulla... OMIM:616733
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... OMIM:615513
Aminopterin Syndrome Sine Aminopterin
High palate, Joint contracture of the hand, Cleft palate, Inguinal hernia, Oligodontia, Frontal u... OMIM:600325
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios, Adrenal hypoplasia, Pulmonary hypoplasia OMIM:613124
Meckel Syndrome 12
Ureteral hypoplasia, Renal agenesis, Micrognathia, Bifid uvula, Renal hypoplasia, Arthrogryposis ... OMIM:616258
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Accessory oral frenulum, Inguinal hernia, Epicanthus, Umbilical hernia, Ptosis ORPHA:1373
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Overlapping toe, Anal atresia, Dental malocclusion, Velopharyngeal insufficiency, Micropenis, Uni... ORPHA:363444
Chromosome 8Q22.1 Duplication Syndrome
Gastroesophageal reflux, Short palpebral fissure, Upslanted palpebral fissure, Narrow palpebral f... OMIM:151200
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
Cleft Soft Palate
Cleft soft palate OMIM:119570
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Microtia, Abnormality of the upper urinary tract, Hydroureter, Camptodactyly... ORPHA:2547
Seckel Syndrome 2
Clinodactyly of the 5th finger, Hypospadias, Micrognathia, Ectopic kidney, Microglossia OMIM:606744
Lambert Syndrome
Intrauterine growth retardation, Inguinal hernia, Intrahepatic biliary atresia, Hypospadias, Chol... ORPHA:1296
Radial-Renal Syndrome
Absent thumb, Unilateral renal agenesis, External ear malformation, Ectopic kidney, Absent radius OMIM:179280
Chromosome 15Q25 Deletion Syndrome
Webbed neck, Cryptorchidism, Congenital diaphragmatic hernia, Inguinal hernia, Cleft palate, Shor... OMIM:614294
Agnathia-Otocephaly Complex
Narrow mouth, Secundum atrial septal defect, Cleft palate, Hypoplasia of the epiglottis, Laryngea... OMIM:202650
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Maturity-onset diabetes of the young, Abnormality of exocrine pancreas physiology OMIM:609812
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Clinodactyly of the 5th finger, Congenital diaphragmatic hernia, Abnormality ... OMIM:601163
Gracile Bone Dysplasia
Micropenis, Flared metaphysis, Brachydactyly, Slender long bone, Hypoplastic spleen, Ankyloglossi... OMIM:602361
Arthrogryposis, Distal, Type 1C
High palate, Hip contracture, Narrow mouth, Pursed lips, Cleft palate, Thin vermilion border, Cam... OMIM:619110
Chromosome 1Q41-Q42 Deletion Syndrome
High palate, Cleft upper lip, Supernumerary nipple, Cleft palate, Sparse eyebrow, Congenital diap... OMIM:612530
Severe Congenital Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, Micropenis, Abnormality of the diaphragm, ... ORPHA:171430
Beta-Mercaptolactate Cysteine Disulfiduria
High palate, Hypoplasia of the ear cartilage, Arachnodactyly, Abnormality of the ureter, Micromel... ORPHA:1035
Alg9-Cdg
Hepatomegaly, Short neck, Hypoplasia of the bladder, Enlarged kidney, Hepatic cysts, Lipodystroph... ORPHA:79328
Rin2 Syndrome
High palate, Sparse scalp hair, Gingival overgrowth, Hirsutism, Hypergonadotropic hypogonadism, U... ORPHA:217335
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Hepatoblastoma, Abnormal helix morphology, Cleft palate, Aplasia/Hypoplasia of the ... ORPHA:373
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Abnormality of the lymph nodes, Eosinophilia, Hepatosplenomegaly, Autoimmune throm... ORPHA:911
Netherton Syndrome
Sparse scalp hair, Malabsorption, Aminoaciduria, Sparse eyebrow, Sparse eyelashes, Dehydration, T... ORPHA:634
Donnai-Barrow Syndrome
Sensorineural hearing impairment, Wide anterior fontanel, Short sternum, Non-acidotic proximal tu... OMIM:222448
Zaki Syndrome
High palate, Ectrodactyly, Congenital diaphragmatic hernia, Renal agenesis, Micrognathia, Cupped ... OMIM:619648
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Tracheoesophageal fistula, Esophageal atresia OMIM:189960
Optic Atrophy 9
Pallor OMIM:616289
Lowry-Maclean Syndrome
Low-set ears, Congenital diaphragmatic hernia, Abnormality of the abdominal organs, Inguinal hern... ORPHA:2409
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... ORPHA:2141
Teebi Hypertelorism Syndrome 1
Hydrocele testis, Atrial septal defect, Bicornuate uterus, Upslanted palpebral fissure, Long phil... OMIM:145420
Aarskog-Scott Syndrome
Cleft upper lip, Cleft palate, Everted lower lip vermilion, Inguinal hernia, Abnormality of the d... ORPHA:915
Rhyns Syndrome
Conductive hearing impairment, Chronic kidney disease, Radial bowing, Decreased response to growt... OMIM:602152
Li-Campeau Syndrome
Hypertrichosis, Atrial septal defect, Thick eyebrow, Micropenis, Long philtrum, Hypothyroidism, V... OMIM:619189
Acces Syndrome
Ectrodactyly, Protruding ear, Clinodactyly of the 5th finger, Supernumerary nipple, Split foot, R... OMIM:619959
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Renal hypoplasia/aplasia, Hypoplasia of penis, Splenomegaly, Anemia, Hypospadias, Abnormality of ... ORPHA:1046
Verloove Vanhorick-Brubakk Syndrome
Abnormality of femur morphology, Cryptorchidism, Finger syndactyly, Microtia, Cleft palate, Micro... ORPHA:3429
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Unilateral renal agenesis, Posteriorly rotated ears, Intrauterine growth retardation, Preaxial ha... OMIM:608406
Primary Ciliary Dyskinesia
Conductive hearing impairment, Anomalous pulmonary venous return, Intestinal malrotation, Chronic... ORPHA:244
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Sensorineural hearing impairment, Protruding ear, Ankle flexion contracture, Gastroesophageal ref... ORPHA:435938
Acrofacial Dysostosis 1, Nager Type
Absent thumb, Cleft palate, Hypoplasia of the radius, Radioulnar synostosis, Broad hallux, Trismu... OMIM:154400
Nephronophthisis 15
Polydactyly, Nephronophthisis, Hepatic failure OMIM:614845
Renal Dysplasia-Limb Defects Syndrome
High palate, Abnormal pinna morphology, Short sternum, Hypoplasia of the radius, Short neck, Pulm... OMIM:266910
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
High palate, Wide mouth, Low anterior hairline, Macroglossia, Upslanted palpebral fissure, Arthro... ORPHA:369891
Genitopatellar Syndrome
Hip contracture, Talipes equinovarus, Cryptorchidism, Gastroesophageal reflux, Hypoplastic ilia, ... ORPHA:85201
Meckel Syndrome, Type 6
Aplasia of the bladder, Cleft upper lip, Cleft palate, Anencephaly, Hepatic cysts, Absent gallbla... OMIM:612284
Intellectual Developmental Disorder, Autosomal Dominant 36
Deviation of the 5th finger, Postaxial polydactyly, Unilateral renal agenesis, Hip dysplasia, Bro... OMIM:616362
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Chromosome 6Q11-Q14 Deletion Syndrome
High palate, Inguinal hernia, Upslanted palpebral fissure, Long philtrum, Epicanthus, Umbilical h... OMIM:613544
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Exocrine pancreatic insufficiency, Craniosynostosis, Severe B lymphocytopenia, Tapered finger, In... OMIM:620005
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia OMIM:307500
Heterotaxy, Visceral, 1, X-Linked
Myelomeningocele, Posteriorly placed anus, Anal atresia, Duodenal atresia, Hepatomegaly, Bilatera... OMIM:306955
14Q11.2 Microdeletion Syndrome
High palate, Narrow mouth, Everted lower lip vermilion, Long philtrum, Ventricular septal defect,... ORPHA:261120
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Abnormal pinna morphology, Femoral bowing, Short neck, Micromelia, Prolonged neonatal jaundice, I... OMIM:210710
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... OMIM:613092
Conductive Deafness-Malformed External Ear Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:3216
Stankiewicz-Isidor Syndrome
Micropenis, Hypospadias, Ureteral duplication, Ventricular septal defect, Patent ductus arteriosu... OMIM:617516
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Tarp Syndrome
Abnormal antihelix morphology, Short sternum, Cleft palate, Tongue nodules, Pulmonary hypoplasia,... ORPHA:2886
Catel-Manzke Syndrome
High palate, Cleft upper lip, Cleft palate, Inguinal hernia, Glossoptosis, Coarctation of aorta, ... OMIM:616145
Verheij Syndrome
Renal agenesis, Short neck, Short 5th finger, Renal cyst, Renal hypoplasia, Clinodactyly, Hip dis... OMIM:615583
Trisomy 20P
Abnormality of the dentition, Abnormality of the ureter, Short philtrum, Coarse hair, Microdontia... ORPHA:261318
Velocardiofacial Syndrome
Unilateral primary pulmonary dysgenesis, Hypoparathyroidism, Velopharyngeal insufficiency, Cleft ... OMIM:192430
Turner Syndrome Due To Structural X Chromosome Anomalies
High palate, Hyperinsulinemia, Short sternum, Osteopenia, Short neck, Irregular proximal tibial e... ORPHA:99413
Mosaic Monosomy X
High palate, Hyperinsulinemia, Short sternum, Osteopenia, Short neck, Irregular proximal tibial e... ORPHA:99228
Monosomy X
High palate, Hyperinsulinemia, Short sternum, Osteopenia, Short neck, Irregular proximal tibial e... ORPHA:99226
Turner Syndrome
High palate, Hyperinsulinemia, Short sternum, Osteopenia, Short neck, Irregular proximal tibial e... ORPHA:881
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of femur morphology, Anal atresia, Narrow palate, Congenital diaphragmatic hernia, Cr... ORPHA:2063
Adams-Oliver Syndrome 4
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbilical hernia OMIM:615297
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Multiple joint contractures, Duodenal atresia, Narrow mouth, Ankle flexion contracture, Upslanted... ORPHA:468631
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Pericardial And Diaphragmatic Defect
Mitral stenosis, Pulmonary sequestration, Bicuspid aortic valve, Atrial septal defect, Congenital... ORPHA:2847
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Anal atresia, Talipes equinovarus, Hypertrophy of the urinary bladder, Autoimmune thrombocytopeni... OMIM:601389
Buratti-Harel Syndrome
High palate, Laryngomalacia, Velopharyngeal insufficiency, Gastroesophageal reflux, Atrial septal... OMIM:619314
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
High palate, Low-set ears, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Gastroesophageal r... ORPHA:502434
Holoprosencephaly-Postaxial Polydactyly Syndrome
Anal atresia, Narrow mouth, Renal hypoplasia/aplasia, Abnormal cardiac septum morphology, Hypopla... ORPHA:2166
Cutis Laxa, Autosomal Recessive, Type Ic
Laryngomalacia, Bladder diverticulum, Gastroesophageal reflux, Inguinal hernia, Long philtrum, Py... OMIM:613177
X-Linked Intellectual Disability, Snyder Type
High palate, Testicular atrophy, Cleft palate, Abnormality of the Leydig cells, Mandibular progna... ORPHA:3063
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia, Microtia, Tracheomalacia, Tracheoesophageal fistula, Micrognathi... ORPHA:268249
Poland Syndrome
Cone-shaped epiphysis, Short neck, Abnormality of the humerus, Abnormality of the outer ear, Ence... ORPHA:2911
Cloacal Exstrophy
Bladder exstrophy, Abnormality of fibula morphology, Horseshoe kidney, Omphalocele, Anal atresia,... ORPHA:93929
Mucopolysaccharidosis, Type Iiia
Hirsutism, Hepatomegaly, Inguinal hernia, Splenomegaly, Recurrent upper respiratory tract infecti... OMIM:252900
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
High palate, Conductive hearing impairment, Clinodactyly of the 5th finger, Microtia, Micrognathi... OMIM:248910
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Pelvic kidney, Wide mouth, Hirsutism, Gastroesophageal reflux, Thick eyebrow, Long palpebral fiss... ORPHA:466950
Coffin-Siris Syndrome 1
High palate, Abnormal pinna morphology, Short sternum, Prominent fingertip pads, Cleft palate, De... OMIM:135900
Hypoglossia With Situs Inversus
High palate, Micrognathia, Microglossia, Low-set ears, Polysplenia, Asplenia OMIM:612776
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Absent cupid's bow, High, narrow palate, Hypodontia, Supernumerary tooth... ORPHA:2919
8Q24.3 Microdeletion Syndrome
Exocrine pancreatic insufficiency, Abnormal cricoid cartilage morphology, Atrioventricular canal ... ORPHA:508488
Alg3-Cdg
High palate, Decreased liver function, Abnormality of the endocrine system, Macroglossia, Coarcta... ORPHA:79321
Dyssegmental Dysplasia, Silverman-Handmaker Type
Talipes equinovarus, Micrognathia, Neonatal death, Pulmonary hypoplasia, Bowing of the long bones... OMIM:224410
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Cleft palate, Horseshoe kidney, Clinodactyly of the 5th finger, M... ORPHA:3320
Retinitis Pigmentosa 27
Pallor, Macular edema OMIM:613750
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia, Cleft palate, Upslanted palpebral fissure, Hypergonadotropic hyp... ORPHA:250999
Renal Agenesis, Bilateral
Cleft palate, Renal agenesis, Tracheoesophageal fistula, Sirenomelia, Abnormal morphology of fema... ORPHA:1848
Cerebrofacioarticular Syndrome
Conductive hearing impairment, Talipes equinovarus, Microtia, Tracheomalacia, Hypospadias, Osteop... ORPHA:314679
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
High palate, Abnormal cardiac septum morphology, Inguinal hernia, Short philtrum, Epicanthus, Umb... OMIM:618354
Seckel Syndrome 8
Micrognathia, Ectopic kidney OMIM:615807
Nephronophthisis 7
Renal tubular atrophy, Stage 5 chronic kidney disease, Nephronophthisis OMIM:611498
Pelvis-Shoulder Dysplasia
Abnormal pinna morphology, Cleft palate, Ambiguous genitalia, Absent proximal finger flexion crea... ORPHA:2839
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Hydrocele testis, High palate, Carious teeth, Ventricular septal defect, Downslanted palpebral fi... OMIM:619522
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, Nonimmune hydrops... OMIM:619313
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Abnormal pinna morphology, Posterior pituitary hypoplasia, Postaxial hand polydactyly, Renal hypo... ORPHA:75389
Senior-Loken Syndrome 4
Anemia, Polyuria, Nephronophthisis, Stage 5 chronic kidney disease OMIM:606996
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency, Hypogonadism OMIM:618681
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:606762
Xp22.13P22.2 Duplication Syndrome
High palate, 2-3 toe syndactyly, Congenital diaphragmatic hernia, Small hand, Recurrent upper res... ORPHA:284180
Pelvic Lipomatosis With Crossed Renal Ectopia
Pelvic lipomatosis, Ectopic kidney OMIM:169545
Penile Agenesis
Tracheoesophageal fistula, Ventricular septal defect, Ambiguous genitalia, Pulmonary hypoplasia, ... ORPHA:49
Gabriele-De Vries Syndrome
High palate, Sparse eyebrow, Abnormality of the dentition, Downslanted palpebral fissures, Thick ... ORPHA:506358
Apert Syndrome
Ectopic anus, Narrow palate, Ovarian neoplasm, Cleft palate, Bifid uvula, Delayed eruption of tee... ORPHA:87
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Cleft palate, Micropenis, Intestinal malrotation, Pancreatic fibrosis, Hydr... OMIM:263520
Cousin Syndrome
Ambiguous genitalia, female, Cleft palate, Microtia, first degree, Rhizomelia, Absent proximal fi... OMIM:260660
Van Der Woude Syndrome 1
Cleft upper lip, Hypodontia, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Bicuspid aortic valve, Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Recurren... ORPHA:500159
Chromosome 13Q33-Q34 Deletion Syndrome
High palate, Distally placed thumb, Cutaneous syndactyly, Anencephaly, Delayed eruption of teeth,... OMIM:619148
Mahvash Disease
Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia, Increased g... OMIM:619290
Lissencephaly Syndrome, Norman-Roberts Type
Dysphagia, Patent foramen ovale, Atrial septal defect, Hypoplastic spleen ORPHA:89844
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Hydrocele testis, Cleft palate, Short philtrum, Pulmonary artery sling, Delayed eruption of teeth... ORPHA:261537
Distal 22Q11.2 Microduplication Syndrome
Abnormal antihelix morphology, Low-set ears, Protruding ear, Webbed neck, Abnormal helix morpholo... ORPHA:261337
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Distal 22Q11.2 Microdeletion Syndrome
Narrow mouth, Atrial septal defect, High, narrow palate, Cleft palate, Inguinal hernia, Branchial... ORPHA:261330
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Abnormal oral cavity morphology, Short philtrum, Downslanted palpebral fissures, Epicanthus, Pate... ORPHA:1516
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Tracheoesophageal fistula, Neoplasm of the lung, Dysphagia, Laryngo... ORPHA:142
Hyperekplexia 4
High palate, Inguinal hernia, Flexion contracture, Camptodactyly, Distal arthrogryposis, Umbilica... OMIM:618011
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Attached earlobe, Short neck, Prominent crus of helix, Hypoplasia of the capital femoral epiphysi... OMIM:619194
Scarf Syndrome
Diastasis recti, Sparse hair, Inguinal hernia, Micropenis, Bifid scrotum, Long philtrum, Hepatoce... ORPHA:3134
Joubert Syndrome 16
Renal cyst, Polydactyly, Nephronophthisis, Encephalocele OMIM:614465
Greenberg Dysplasia
Hepatomegaly, Anterior rib punctate calcifications, Nonimmune hydrops fetalis, Micromelia, Rhizom... OMIM:215140
Mowat-Wilson Syndrome
Hydrocele testis, Abnormal cardiac septum morphology, Cleft palate, Pulmonary artery sling, Delay... ORPHA:2152
Meckel Syndrome 14
Microretrognathia, Postaxial polydactyly, Retrognathia, Micrognathia, Decreased calvarial ossific... OMIM:619879
Chromosome 18Q Deletion Syndrome
Cleft palate, Short philtrum, Ventricular septal defect, Downslanted palpebral fissures, Umbilica... OMIM:601808
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Microglossia, Abnormal epiglottis morphology, Cleft palate ORPHA:141152
Congenital Laryngomalacia
Laryngomalacia, Cleft palate, Non-midline cleft lip ORPHA:2373
Oculogastrointestinal Neurodevelopmental Syndrome
Anal atresia, Bicuspid aortic valve, Hirsutism, Vaginal fistula, Laryngeal cleft, Horseshoe kidne... OMIM:619318
Meier-Gorlin Syndrome 7
High palate, Anal atresia, Narrow mouth, Atrial septal defect, Cleft palate, Micropenis, Hypospad... OMIM:617063
Nephronophthisis 20
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease OMIM:617271
Cardiac-Urogenital Syndrome
Enlarged kidney, Ventricular septal defect, Ambiguous genitalia, Pulmonary hypoplasia, Patent ura... OMIM:618280
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... OMIM:612474
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Overlapping toe, Webbed neck, Abnormality of the endocrine system, Dental malocclusion, Flexion c... ORPHA:487796
Specc1L-Related Hypertelorism Syndrome
Atrial septal defect, Thick eyebrow, Everted lower lip vermilion, Thin vermilion border, Long phi... ORPHA:1519
Senior-Loken Syndrome 9
Nephronophthisis, Hypoplasia of the femoral head, Polydactyly, Cholestasis, Tubulointerstitial ne... OMIM:616629
Smith-Lemli-Opitz Syndrome
Wide mouth, Cleft palate, Atrioventricular canal defect, Advanced eruption of teeth, Pyloric sten... ORPHA:818
Chromosome 17Q12 Deletion Syndrome
High palate, Ovarian cyst, Hypoplasia of the bladder, Upper limb undergrowth, Aplasia of the vagi... OMIM:614527
Fanconi Anemia, Complementation Group W
Duodenal atresia, Decreased response to growth hormone stimulation test, Absent thumb, Hypoplasia... OMIM:617784
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Low-set ears, Metaphyseal dysplasia, Decreased response to growth hormone stimulation test, Micro... OMIM:618336
Cerebrocostomandibular Syndrome
High palate, Congenital hip dislocation, Horseshoe kidney, Anteriorly placed anus, Clinodactyly o... OMIM:117650
Ptosis-Vocal Cord Paralysis Syndrome
Laryngomalacia, Ptosis ORPHA:2997
7Q11.23 Microduplication Syndrome
High palate, Craniosynostosis, Overfolded helix, Short neck, Large earlobe, Tracheomalacia, Unila... ORPHA:96121
Acitretin/Etretinate Embryopathy
High palate, Median cleft palate, Atrioventricular canal defect, Hypoplasia of the thymus, Epican... ORPHA:40366
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Joubert Syndrome 7
Nephronophthisis, Postaxial polydactyly, Postaxial hand polydactyly, Renal cyst, Genu valgum, Enc... OMIM:611560
Pseudotrisomy 13 Syndrome
Low-set ears, Anal atresia, 2-3 toe syndactyly, Cryptorchidism, Bicornuate uterus, Micropenis, Re... OMIM:264480
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Anal atresia, Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal def... ORPHA:210122
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Tapered finger, Umbilical hernia, Shawl scrotum, Mandibular prognathia, Talipes equinovarus, Micr... OMIM:301040
Carpenter Syndrome 1
High palate, External genital hypoplasia, Ventricular septal defect, Umbilical hernia, Omphalocel... OMIM:201000
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hydrocele testis, Cleft palate, Short philtrum, Pulmonary artery sling, Delayed eruption of teeth... ORPHA:261552
Feingold Syndrome 2
Ventricular septal defect, Intestinal atresia OMIM:614326
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
High palate, Facial hirsutism, Ventricular septal defect, Downslanted palpebral fissures, Long ey... ORPHA:444077
Senior-Boichis Syndrome
Reduced number of intrahepatic bile ducts, Malformation of the hepatic ductal plate, Cholestasis,... ORPHA:84081
Cach Syndrome
Pancreatitis, Flexion contracture, Hepatosplenomegaly, Gonadal dysgenesis, Renal hypoplasia, Arth... ORPHA:135
Pearson Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Hepatic failure, Corneal stromal ed... ORPHA:699
Histiocytosis-Lymphadenopathy Plus Syndrome
Flexion contracture of finger, Hepatomegaly, Cervical lymphadenopathy, Hypergonadotropic hypogona... OMIM:602782
Joubert Syndrome 4
Renal insufficiency, Abnormal renal medulla morphology, Nephronophthisis, Stage 5 chronic kidney ... OMIM:609583
Treacher-Collins Syndrome
High palate, Wide mouth, Cleft palate, Tracheoesophageal fistula, Abnormality of the dentition, B... ORPHA:861
Macs Syndrome
High palate, Gingival overgrowth, Sparse hair, Sparse eyebrow, Alopecia, Hypergonadotropic hypogo... OMIM:613075
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis OMIM:618270
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Abnormal pinna morphology, Cleft palate, Uterus didelphys, Decreased calvarial ossification, Shor... OMIM:617925
Cooper-Jabs Syndrome
Conductive hearing impairment, Abnormality of the middle ear, Congenital diaphragmatic hernia, Ab... ORPHA:1488
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Talipes equinovarus, Bifid humerus, Cleft palate, Micrognathia... OMIM:256050
Peripheral Cone Dystrophy
Pallor OMIM:609021
Congenital Pulmonary Valvar Stenosis
Laryngeal stenosis, Atrial septal defect ORPHA:3189
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia, Craniosynostosis, Preaxial hand polydactyly, Broad hallux phalan... ORPHA:380
Nabais Sa-De Vries Syndrome, Type 2
High palate, Protruding ear, Clinodactyly of the 5th finger, Gastroesophageal reflux, Microtia, M... OMIM:618829
Hydrolethalus Syndrome 1
Abnormal pinna morphology, Cleft palate, Bifid uterus, Anencephaly, Upper limb undergrowth, Ompha... OMIM:236680
Proximal 16P11.2 Microduplication Syndrome
Arachnodactyly, Microtia, Congenital diaphragmatic hernia, Micropenis ORPHA:370079
Adams-Oliver Syndrome 5
Right atrial enlargement, Inguinal hernia, Right ventricular hypertrophy, Splenomegaly, Pulmonic ... OMIM:616028
Tarp Syndrome
High palate, Short sternum, Talipes equinovarus, Cleft palate, Microtia, Hypoplasia of the radius... OMIM:311900
Otopalatodigital Syndrome Type 2
Abnormal pinna morphology, Cleft palate, Ureteral obstruction, Pulmonary hypoplasia, Omphalocele,... ORPHA:90652
Joubert Syndrome 15
Ambiguous genitalia, Polydactyly, Nephronophthisis, Micropenis OMIM:614464
Fanconi Anemia
High palate, Abnormal cardiac septum morphology, Arteriovenous malformation, Absent testis, Cleft... ORPHA:84
Multiple Pterygium Syndrome, X-Linked
Cleft upper lip, Multiple pterygia, Hypoplastic heart, Cleft palate, Flexion contracture, Polyhyd... OMIM:312150
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Osteopenia, Aplastic anemia, Delaye... ORPHA:811
Choanal Atresia And Lymphedema
High palate, Lymphedema, Pericardial effusion OMIM:613611
Down Syndrome
Anal atresia, Narrow mouth, Type II diabetes mellitus, Narrow palate, Renal hypoplasia/aplasia, M... ORPHA:870
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Polyhydramnios, Patent ductus arteriosus, Pulmonary hypoplasia, Patent foram... OMIM:616867
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910