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Gene: Rit1 MGI:108053

Gene Summary

Name:

Ras-like without CAAX 1

Synonyms:

Rit

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal kidney morphology	Rit1^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged kidney	Rit1^em1(IMPC)Mbp	HOM	Early adult	0.00
increased circulating alkaline phosphatase level	Rit1^em1(IMPC)Mbp	HOM	Early adult	1.40×10^-09
increased red blood cell distribution width	Rit1^em1(IMPC)Mbp	HOM	Early adult	8.09×10^-05
increased mean platelet volume	Rit1^em1(IMPC)Mbp	HOM	Early adult	2.35×10^-11
increased circulating aspartate transaminase level	Rit1^em1(IMPC)Mbp	HOM	Early adult	3.75×10^-05
anophthalmia	Rit1^em1(IMPC)Mbp	HOM	Early adult	0.00

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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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Human diseases caused by Rit1 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.

Human diseases associated with Rit1 (2 diseases)
Human diseases predicted to be associated with Rit1 (1441 diseases)

The table below shows human diseases associated to Rit1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Noonan Syndrome 8		Failure to thrive, Hypertrophic cardiomyopathy, Large for gestational age, Pleural effusion, Mitr...	OMIM:615355
Noonan Syndrome		Juvenile myelomonocytic leukemia, Abnormal EKG, Hypertrophic cardiomyopathy, Postnatal growth ret...	ORPHA:648

The table below shows human diseases predicted to be associated to Rit1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu...	ORPHA:766
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ...	OMIM:187800
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico...	OMIM:617610
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen...	OMIM:615285
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri...	OMIM:619271
Fetal Parvovirus Syndrome	Hypertrophic cardiomyopathy, Ascites, Intrauterine growth retardation, Increased nuchal transluce...	ORPHA:295
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm...	OMIM:615193
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Infantile Sialic Acid Storage Disease	Failure to thrive, Congestive heart failure, Ascites, Anteverted nares, Splenomegaly, Cardiomegal...	OMIM:269920
Anemia, Congenital Dyserythropoietic, Type Iv	Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product...	OMIM:613673
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Mulibrey Nanism	Wide nasal bridge, Depressed nasal bridge, Microglossia, Congestive heart failure, Ascites, Front...	OMIM:253250
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Myh9-Related Disease	Nephropathy, Nephritis, Giant platelets, Renal insufficiency, Proteinuria, Congenital thrombocyto...	ORPHA:182050
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy...	OMIM:155100
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome...	OMIM:616860
Immunodeficiency, Common Variable, 6	Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor...	OMIM:613496
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Transaldolase Deficiency	Biventricular hypertrophy, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Incr...	ORPHA:101028
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Juvenile Polyposis Of Infancy	Hypoalbuminemia, Hematochezia, Gastrointestinal hemorrhage, Intestinal bleeding, Depressed nasal ...	ORPHA:79076
Congenital Pulmonary Lymphangiectasia	Gastroesophageal reflux, Congestive heart failure, Tricuspid regurgitation, Ascites, Pleural effu...	ORPHA:2414
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Peutz-Jeghers Syndrome	Biliary tract neoplasm, Gastrointestinal hemorrhage, Nasal polyposis, Gastrointestinal carcinoma,...	ORPHA:2869
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Bleeding Disorder, Platelet-Type, 25	Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll...	OMIM:620486
Congenital Disorder Of Glycosylation, Type Ik	Cardiomyopathy, Hypogonadism, Intrauterine growth retardation, Splenomegaly, Nonimmune hydrops fe...	OMIM:608540
Solitary Rectal Ulcer Syndrome	Hematochezia, Stercoral ulcer, Anal fissure, Decreased body weight, Abnormality of body height, A...	ORPHA:209964
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal pericardial effusion, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis, Hepatom...	OMIM:619462
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Glycogen Storage Disease Iv	Failure to thrive, Cardiomyopathy, Ascites, Hepatosplenomegaly, Abnormal circulating creatine kin...	OMIM:232500
Hydrops Fetalis, Nonimmune	Anemia, Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure	OMIM:236750
Fetal Gaucher Disease	Depressed nasal bridge, Abnormality of the spleen, Pancytopenia, Anteverted nares, Splenomegaly, ...	ORPHA:85212
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Microcytic anemia, Tal...	ORPHA:90308
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Depressed nasal bridge, Failure to thrive, Ascites, Hypocholesterolemia, Villous...	OMIM:608776
Hydrops Fetalis	Generalized edema, Increased placental thickness, Lymphedema, Abnormal heart morphology, Ascites,...	ORPHA:1041
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Oligohydramnios, Polyhydramnios, Abnormal hemoglobin, Splenomegaly, Hep...	ORPHA:163596
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Fetal pericardial effusion, Hypoalbuminemia, Second degree atrioventricular block, Increased mean...	OMIM:617021
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Alpha-Thalassemia	Generalized edema, Cholelithiasis, Extramedullary hematopoiesis, Congestive heart failure, Microc...	ORPHA:846
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo...	OMIM:618052
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Splenomegaly, Redu...	OMIM:210250
Rh-Null, Amorph Type	Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia	OMIM:617970
Indomethacin Embryofetopathy	Cardiomyopathy, Oligohydramnios, Ventricular septal defect, Atrial septal defect, Hydrops fetalis...	ORPHA:1909
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Cardiomyopathy, Familial Restrictive, 6	Restrictive cardiomyopathy, Hepatic artery hyperplasia, Tricuspid regurgitation, Ascites, Portal ...	OMIM:619433
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A...	ORPHA:86841
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ...	OMIM:224120
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo...	OMIM:231200
Mitochondrial Complex I Deficiency, Nuclear Type 35	Cardiomyopathy, Intrauterine growth retardation, Nonimmune hydrops fetalis, Neonatal death, Hyper...	OMIM:619003
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Wide nasal bridge, Hypertrophic cardiomyopathy, Ascites, Intrauterine growth retardation, Antever...	OMIM:616897
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Wide nasal bridge, Depressed nasal bridge, Periorbital edema, Coronal craniosynostosis, Hypoalbum...	OMIM:235510
Neuraminidase Deficiency	Facial edema, Cardiomyopathy, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Hydrops fetalis,...	OMIM:256550
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal EKG, Fetal distress, Reduced left ventricular ejec...	ORPHA:45452
Bleeding Disorder, Platelet-Type, 21	Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa...	OMIM:617443
Hepatorenocardiac Degenerative Fibrosis	Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Hyper...	OMIM:619902
Microphthalmia/Coloboma 10	Anophthalmia, Microphthalmia	OMIM:616428
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal tricuspid valve morphology, Polyhydramnios, Ventricular septal defect, Intestinal atresi...	ORPHA:3405
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Polyhydramnios, Splenomegaly, Hepatomegaly, Short stature, Hydrops fetalis	ORPHA:2204
Meckel Syndrome, Type 8	Hyperechogenic kidneys, Anophthalmia, Microphthalmia, Polycystic kidney dysplasia, Enlarged kidney	OMIM:613885
Microphthalmia/Coloboma 5	Anophthalmia, Bilateral microphthalmos, Microphthalmia	OMIM:611638
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Hydronephrosis, Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Gm1-Gangliosidosis, Type I	Severe short stature, Depressed nasal ridge, Dilated cardiomyopathy, Congestive heart failure, Hy...	OMIM:230500
Congenital Enterovirus Infection	Cholestasis, Neutropenia, Fetal distress, Pleural effusion, Anemia, Hydrops fetalis, Premature bi...	ORPHA:292
Congenital Dyserythropoietic Anemia Type Iii	Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron...	ORPHA:98870
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Impaired platelet aggregation, Macrocytic anemia, Anisocytosis,...	OMIM:300835
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ...	OMIM:602088
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate...	OMIM:153670
Nuchal Bleb, Familial	Hydrops fetalis, Fetal cystic hygroma, Stillbirth	OMIM:257350
Squamous Cell Carcinoma Of The Anal Canal	Intestinal bleeding, Anal stenosis, Neoplasm of the liver, Neoplasm of the rectum, Anal canal squ...	ORPHA:424019
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Ele...	OMIM:604765
Slc35A1-Cdg	Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules	ORPHA:238459
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Ascites, He...	ORPHA:367
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Acute colitis, Elevated circulating creatinine concentration, ...	ORPHA:90038
Juvenile Polyposis Syndrome	Hypoalbuminemia, Hematochezia, Failure to thrive, Intussusception, Duodenal adenocarcinoma, Hypok...	OMIM:174900
Nephronophthisis 16	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi...	OMIM:615382
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Fetal akinesia sequence, Bradycardia, Hydrop...	OMIM:618815
Achondrogenesis Type 1B	Severe short stature, Disproportionate short stature, Anteverted nares, Thickened nuchal skin fol...	ORPHA:93298
Combined Oxidative Phosphorylation Deficiency 42	Cardiomyopathy, Intrauterine growth retardation, Nonimmune hydrops fetalis, Neonatal death, Eleva...	OMIM:618839
Thrombocytopenia 2	Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia	OMIM:188000
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Macrocytic anemia, Aniso...	ORPHA:71275
Combined Oxidative Phosphorylation Deficiency 40	Hypertrophic cardiomyopathy, Intrauterine growth retardation, Nonimmune hydrops fetalis, Neonatal...	OMIM:618835
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Oroticaciduria, Anisocytosis, Hematuria, Orotic acid cr...	OMIM:258900
Achondrogenesis	Severe short stature, Anteverted nares, Thickened nuchal skin fold, Polyhydramnios, Hydrops fetal...	ORPHA:932
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn...	OMIM:613092
Visceral Myopathy 2	Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m...	OMIM:619350
Restrictive Dermopathy 2	Gastroesophageal reflux, Fetal distress, Intrauterine growth retardation, Decreased fetal movemen...	OMIM:619793
Combined Oxidative Phosphorylation Deficiency 41	Intrauterine growth retardation, Nonimmune hydrops fetalis, Cardiomegaly, Elevated circulating cr...	OMIM:618838
Diffuse Neonatal Hemangiomatosis	Ascites, Polyhydramnios, Hepatomegaly, Thrombocytopenia, Anemia, Hydrops fetalis, Hypercalcemia, ...	ORPHA:2123
Sialidosis Type 2	Ascites, Splenomegaly, Hepatomegaly, Short stature, Hydrops fetalis, Pedal edema	ORPHA:87876
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Aminoaciduria, Renal hypoplasia, 3-Methylglutaconic aciduria, Anisocytosis, Lacticaciduria, Hepat...	OMIM:604273
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Restrictive cardiomyopathy, Increased circulating ferritin con...	OMIM:619313
Long-Olsen-Distelmaier Syndrome	Premature rupture of membranes, Dilated cardiomyopathy, Secundum atrial septal defect, Failure to...	OMIM:620609
Cystic Fibrosis	Cor pulmonale, Nasal polyposis, Biliary cirrhosis, Failure to thrive, Male infertility, Exocrine ...	OMIM:219700
Gaucher Disease, Perinatal Lethal	Depressed nasal bridge, Desquamation of skin soon after birth, Ascites, Intrauterine growth retar...	OMIM:608013
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Polyhydramnios, Anteverted nares, Hydrops fetalis, Nonimmune hydrops fetalis	OMIM:613124
Hemochromatosis, Type 2B	Hepatic fibrosis, Increased circulating iron concentration, Cardiomyopathy, Congestive heart fail...	OMIM:613313
Burn-Mckeown Syndrome	Wide nasal bridge, Bilateral choanal atresia, Prominent nasal bridge, Abnormal cardiac septum mor...	ORPHA:1200
Gm1 Gangliosidosis	Depressed nasal ridge, Depressed nasal bridge, Broad nasal tip, Gastroesophageal reflux, Failure ...	ORPHA:354
Achondrogenesis Type 1A	Severe short stature, Anteverted nares, Thickened nuchal skin fold, Polyhydramnios, Hydrops fetal...	ORPHA:93299
Nephronophthisis 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico...	OMIM:604387
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Depressed nasal bridge, Broad nasal tip, Atrial flutter, Lymphedema, Oligohydramnios, Ventricular...	OMIM:601927
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Failure to thrive, Cong...	OMIM:609015
Blue Rubber Bleb Nevus	Intestinal bleeding, Volvulus, Abnormality of the liver, Iron deficiency anemia, Thrombocytopenia...	OMIM:112200
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Unconjugated hyperbilirubinemia, Reduced red cell pyruvate kinase level, Intraute...	OMIM:266200
Aa Amyloidosis	Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma...	ORPHA:85445
Chondrodysplasia, Blomstrand Type	Depressed nasal bridge, Fetal ascites, Stillbirth, Polyhydramnios, Hydrops fetalis, Premature birth	OMIM:215045
17Q21.31 Microduplication Syndrome	Failure to thrive, Anteverted nares, Delayed puberty, High palate, Short nose	ORPHA:217340
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Thrombocytopenia	OMIM:616176
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Wide nasal bridge, Gastroesophageal reflux, Ascites, Patent foramen ovale, Rect...	OMIM:613177
Achondrogenesis, Type Ib	Neonatal short-limb short stature, Breech presentation, Stillbirth, Polyhydramnios, Hydrops fetal...	OMIM:600972
Long Qt Syndrome 3	Torsade de pointes, Ventricular flutter, Nonimmune hydrops fetalis, Syncope, Ventricular tachycar...	OMIM:603830
Hemochromatosis, Type 2A	Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Congestive hear...	OMIM:602390
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ...	OMIM:616959
Renal Dysplasia	Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure...	ORPHA:93108
S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Cardiomyopathy, Abnormality of the liver,...	ORPHA:88618
Alg8-Cdg	Failure to thrive, Ascites, Intrauterine growth retardation, Oligohydramnios, Hyponatremia, Abnor...	ORPHA:79325
Non-Distal Duplication 10Q	Depressed nasal bridge, Brachycephaly, Convex nasal ridge, Short stature, High palate, Frontal bo...	ORPHA:1695
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Neonatal hyperbilirubinemia, Frontal bossing, Postnatal growth re...	ORPHA:288
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Congenital pulmonary airway malformation, Ileal atresia, Colonic atresia, Lymphopenia, Intestinal...	OMIM:243150
Peutz-Jeghers Syndrome	Intestinal bleeding, Nasal polyposis, Gastrointestinal carcinoma, Bile duct polyp, Rectal prolaps...	OMIM:175200
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Pelger-Huet Anomaly	Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit...	OMIM:169400
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Short stature, Anteverted nares, Cleft palate, Short nose	ORPHA:2015
Developmental And Epileptic Encephalopathy 96	Hydrops fetalis, Small for gestational age	OMIM:619340
Potocki-Shaffer Syndrome	Broad nasal tip, Parietal foramina, Underdeveloped nasal alae, Depressed nasal tip, Prominent nas...	ORPHA:52022
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Organic aciduria, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyper...	OMIM:301310
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Megarectum, Intrauterine growth retardation, Leukopenia, Polyhydramnios, Ventricular septal defec...	OMIM:301056
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Partially duplicated kidney, Macroscopi...	ORPHA:274
Hemochromatosis, Neonatal	Hepatic fibrosis, Increased circulating iron concentration, Hepatocellular necrosis, Cholestasis,...	OMIM:231100
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrops f...	OMIM:616738
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Intrauterine growth retardation, Oligohydramnios, Cardiomegaly, Peri...	OMIM:620135
Combined Oxidative Phosphorylation Deficiency 57	Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Neonatal death, Nonim...	OMIM:620167
Microphthalmia, Syndromic 12	Anophthalmia, Microphthalmia	OMIM:615524
Microphthalmia, Syndromic 16	Anophthalmia, Microphthalmia	OMIM:611038
Achondrogenesis, Type Ii	Disproportionate short-limb short stature, Brachycephaly, Disproportionate short-trunk short stat...	OMIM:200610
Lymphatic Malformation 12	Fetal pericardial effusion, Fetal ascites, Fetal chylothorax, Lymphedema, Neonatal death, Nonimmu...	OMIM:620014
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation	OMIM:124900
Matthew-Wood Syndrome	Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Anophthalmia, Abnormal spleen morpholo...	ORPHA:2470
Congenital Amegakaryocytic Thrombocytopenia	Abnormal hemoglobin, Anemia, Abnormal cardiac septum morphology, Thrombocytopenia, Short stature	ORPHA:3319
Autoinflammatory Disease, Systemic, With Vasculitis	Cholestasis, Hepatosplenomegaly, Periorbital edema, Hepatomegaly, Elevated circulating C-reactive...	OMIM:620376
Ganglioneuroma	Gastrointestinal hemorrhage, Abnormal rectum morphology, Hamartomatous polyposis, Colorectal poly...	ORPHA:251992
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Mosaic Trisomy 9	Abnormal heart valve morphology, Bulbous nose, Intrauterine growth retardation, Endocardial fibro...	ORPHA:99776
Osteogenesis Imperfecta, Type Ii	Disproportionate short-limb short stature, Congestive heart failure, Nonimmune hydrops fetalis, A...	OMIM:166210
Ring Chromosome 8 Syndrome	Polyhydramnios, Anteverted nares, Frontal bossing, Short nose	ORPHA:1450
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Plagiocephaly, Trigonocephaly, Nonimmune hydrops fetalis, Decreased body weight, Decreased calvar...	OMIM:618265
Mgat2-Cdg	Gastroesophageal reflux, Failure to thrive, Abnormal heart morphology, Ventricular septal defect,...	ORPHA:79329
Even-Plus Syndrome	Severe short stature, Depressed nasal ridge, Bifid nasal tip, Oligohydramnios, Patent foramen ova...	OMIM:616854
Free Sialic Acid Storage Disease	Failure to thrive in infancy, Ascites, Splenomegaly, Hepatomegaly, Hydrops fetalis	ORPHA:834
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Mucopolysaccharidosis-Plus Syndrome	Focal segmental glomerulosclerosis, Nephritis, Hypoalbuminemia, Leukopenia, Splenomegaly, Protein...	OMIM:617303
Cirrhotic Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Pulmonary edema, Arrhythmia, Eleva...	ORPHA:57777
Lethal Congenital Contracture Syndrome 10	Narrow palate, Intrauterine growth retardation, Oligohydramnios, Ventricular septal defect, Cardi...	OMIM:617022
Lymphatic Malformation 8	Generalized edema, Pleural effusion, Polyhydramnios, Nonimmune hydrops fetalis, Stillbirth, Peric...	OMIM:618773
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Short stature, Intrauterine growth retardation, Abnormal cardiac septum morphology, Short nose	ORPHA:2370
Leprechaunism	Megarectum, Failure to thrive, Hypertrophic cardiomyopathy, Postnatal growth retardation, Increas...	ORPHA:508
Hemochromatosis, Type 1	Increased circulating iron concentration, Cardiomyopathy, Congestive heart failure, Ascites, Incr...	OMIM:235200
Chromosome 3Pter-P25 Deletion Syndrome	Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Gastroesophageal reflux, Atrioventric...	OMIM:613792
Alg9-Cdg	Ventricular septal defect, Atrial septal defect, Hepatomegaly, Short nose, Gastroesophageal reflu...	ORPHA:79328
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Gastroesophageal reflux, Failure to t...	OMIM:617157
Congenital Syphilis	Premature birth, Extramedullary hematopoiesis, Intrauterine growth retardation, Hepatosplenomegal...	ORPHA:499009
Combined Oxidative Phosphorylation Deficiency 8	Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricula...	OMIM:614096
Weiss-Kruszka Syndrome	Abnormal heart morphology, Prominent nasal tip, Short nose	ORPHA:502430
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume	OMIM:620475
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
Adenylosuccinate Lyase Deficiency	Brachycephaly, Anteverted nares, Short nose, Flat occiput	ORPHA:46
Paternal Uniparental Disomy Of Chromosome 1	Proteinuria, Episodic hemolytic anemia, Increased blood urea nitrogen, Membranoproliferative glom...	ORPHA:251004
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Depressed nasal bridge, Frontal bossing, Postnatal growth retardation, Anteverted nares, Cardiome...	OMIM:613320
Pearson Syndrome	Postnatal growth retardation, Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hep...	ORPHA:699
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Diffuse alveolar hemorrhage, Failure to thriv...	OMIM:616050
Congenital Disorder Of Glycosylation, Type Iig	Giant platelets, Renal insufficiency, Hydronephrosis, Left ventricular hypertrophy, Thrombocytope...	OMIM:611209
Johanson-Blizzard Syndrome	Failure to thrive, Underdeveloped nasal alae, Edema, Exocrine pancreatic insufficiency, Short nos...	ORPHA:2315
Gm1 Gangliosidosis Type 1	Depressed nasal bridge, Broad nasal tip, Cardiomyopathy, Intrauterine growth retardation, Hepatos...	ORPHA:79255
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Short stature, Depressed nasal ridge, Anteverted nares, Short nose	ORPHA:1355
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Galactosuria, Hypermethioninemia, Increased circulating iron concentration, Sple...	OMIM:222470
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia, Dilated cardiomyopathy, Decreased circulating carnitine concentration	OMIM:611283
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Eosinophilic infiltration of the esophagus, High palate, Duodenal ulcer, Dysphagia, Gastric ulcer...	OMIM:147060
Fryns Microphthalmia Syndrome	Anophthalmia, Microphthalmia	OMIM:600776
Lymphatic Malformation 6	Facial edema, Periorbital edema, Generalized edema, Gastroesophageal reflux, Chylothorax, Intesti...	OMIM:616843
Cranioectodermal Dysplasia 2	Cholestasis, Hyperbilirubinemia, Atrial septal defect, Hepatomegaly, High palate, Bile duct proli...	OMIM:613610
Dubowitz Syndrome	Depressed nasal bridge, Anal stenosis, Postnatal growth retardation, Intrauterine growth retardat...	ORPHA:235
Takenouchi-Kosaki Syndrome	Unilateral renal agenesis, Hydronephrosis, Thrombocytopenia, Hypospadias, Increased mean platelet...	OMIM:616737
Trisomy 1Q	Depressed nasal bridge, Increased nuchal translucency, Ventricular septal defect, Polyhydramnios,...	ORPHA:261344
Gaucher Disease Type 3	Aortic valve calcification, Abnormal heart valve morphology, Pancytopenia, Pericardial effusion, ...	ORPHA:77261
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Hepatic fibrosis, Depressed nasal bridge, Failure to thrive, Cardiomyopathy, Ste...	OMIM:212065
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Microphthalmia, Isolated 8	True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:615113
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Enlarged kidney, Nephroblastoma	OMIM:618272
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ...	OMIM:263200
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Congenital shortened small intestine, Ventricular septal defect, Neonatal death, Bicuspid aortic ...	OMIM:265380
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Wide nasal bridge, Broad nasal tip, Plagiocephaly, Anteriorly placed anus, Abnormal heart morphol...	OMIM:239300
3C Syndrome	Aortic valve stenosis, Postnatal growth retardation, Abnormal mitral valve morphology, Ventricula...	ORPHA:7
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short stature, Small for gestational age, Short nose	OMIM:245570
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating long chain fatty acid concentration, Renal dysplasia, Increased total biliru...	OMIM:608836
Intellectual Developmental Disorder, X-Linked 91	Obesity, Short nose, High palate	OMIM:300577
Congenital Myopathy 1B, Autosomal Recessive	Abnormal circulating creatine kinase concentration, Decreased fetal movement, Polyhydramnios, Hig...	OMIM:255320
Williams Syndrome	Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Ov...	ORPHA:904
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Portal fibrosis, Failure to thrive, Increased total bilirubin, Splenomegaly, Inc...	OMIM:619868
Combined Oxidative Phosphorylation Deficiency 10	Failure to thrive, Hypertrophic cardiomyopathy, Ascites, Intrauterine growth retardation, Oligohy...	OMIM:614702
Acrocephalopolydactyly	Oxycephaly, Depressed nasal ridge, Hepatosplenomegaly, Short nose	ORPHA:221054
Peripartum Cardiomyopathy	Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ...	ORPHA:563
Lymphatic Malformation 13	Fetal pericardial effusion, Depressed nasal bridge, Lymphedema, Ascites, Mitral regurgitation, Pa...	OMIM:620244
Hypereosinophilic Syndrome, Idiopathic	Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo...	OMIM:607685
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Cleft soft palate, Ventricular ...	ORPHA:124
Fibrochondrogenesis 1	Depressed nasal bridge, Rhizomelia, Anteverted nares, Patent foramen ovale, Cleft palate, Stillbi...	OMIM:228520
Oculocerebrocutaneous Syndrome	Anophthalmia, Microphthalmia	OMIM:164180
Achondrogenesis, Type Ia	Depressed nasal bridge, Hypoplastic nasal bridge, Anteverted nares, Increased nuchal translucency...	OMIM:200600
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Obesity, Cardiomegaly, Colitis, Craniosynostosis	ORPHA:88643
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Broad nasal tip, Tall stature, Large for gestational age, Abnormal pulmonary valve morphology, Ov...	ORPHA:137634
Trisomy 13	Abnormality of the ureter, Anophthalmia, Aplasia/Hypoplasia of the iris, Displacement of the uret...	ORPHA:3378
Fetal Trimethadione Syndrome	Depressed nasal bridge, Tetralogy of Fallot, Intrauterine growth retardation, Ventricular septal ...	ORPHA:1913
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arterial hypertension, Atrial septal defe...	OMIM:300887
Trimethylaminuria	Splenomegaly, Neutropenia, Anemia, Tachycardia, Hypertension	OMIM:602079
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Failure to thrive, Elevated circ...	ORPHA:79282
Tyrosinemia, Type I	Hypermethioninemia, Nephrocalcinosis, Elevated urinary succinylacetone level, Hypophosphatemic ri...	OMIM:276700
Pearson Marrow-Pancreas Syndrome	Failure to thrive, Exocrine pancreatic insufficiency, Sideroblastic anemia, Pancytopenia, Hyperbi...	OMIM:557000
Mucopolysaccharidosis, Type Vii	Severe short stature, Recurrent upper respiratory tract infections, Cardiomyopathy, Abnormal hear...	OMIM:253220
Fanconi Anemia, Complementation Group O	Abnormal heart morphology, Neonatal death, Rectal atresia, Short stature, Anal atresia	OMIM:613390
Congenital Toxoplasmosis	Ascites, Failure to thrive in infancy, Intrauterine growth retardation, Cardiomegaly, Hepatomegal...	ORPHA:858
Alpha-Heavy Chain Disease	Ascites, Abnormal small intestine morphology, Splenomegaly, Hypocalcemia, Hepatomegaly, Lymphaden...	ORPHA:100025
Cornelia De Lange Syndrome 2	Gastroesophageal reflux, Hypertrophic cardiomyopathy, Postnatal growth retardation, Intrauterine ...	OMIM:300590
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Bulbous nose, Prominent nasal bridge, Ventricular septal defect, Aganglionic megacolon, Atrial se...	OMIM:613870
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Wide nasal bridge, Narrow palate, Hepatic sinusoidal dilatation, Tricuspid regurgitation, Bulbous...	OMIM:620371
Dermotrichic Syndrome	Depressed nasal bridge, Proportionate short stature, Aganglionic megacolon, Anemia, Frontal bossi...	ORPHA:99688
Coffin-Lowry Syndrome	Narrow palate, Thick nasal septum, Broad columella, Thick nasal alae, Anteverted nares, Mitral re...	OMIM:303600
14Q11.2 Microdeletion Syndrome	Depressed nasal bridge, High palate, Short nose, Ventricular septal defect	ORPHA:261120
Coronary Arterial Fistula	Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria...	ORPHA:2041
Hemochromatosis, Type 3	Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr...	OMIM:604250
Phosphoribosylaminoimidazole Carboxylase Deficiency	Choanal atresia, Depressed nasal bridge, Bilateral choanal atresia, Anteverted nares, Polyhydramn...	OMIM:619859
Anencephaly 2	Anophthalmia	OMIM:619452
Syndromic Diarrhea	Renal hypoplasia, Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Hepatomega...	ORPHA:84064
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Anemia of inadequate production, Increased circulating hemoglobin co...	ORPHA:3202
Pelvic Organ Prolapse, Susceptibility To	Rectal prolapse	OMIM:176780
German Syndrome	Wide nasal bridge, Depressed nasal bridge, Lymphedema, Tetralogy of Fallot, Brachycephaly, Abnorm...	ORPHA:2077
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Cardiomyopathy, Splenomegaly, Hyperammonemia, Hepatomegaly, Pancreatitis, Thro...	ORPHA:79312
Foxp1 Syndrome	Decreased circulating iron concentration, Recurrent upper respiratory tract infections, Broad nas...	ORPHA:391372
Diamond-Blackfan Anemia 8	Wide nasal bridge, Increased mean corpuscular volume, Macrocytic anemia, Neutropenia, Short statu...	OMIM:612563
Hurler-Scheie Syndrome	Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Hepatomegaly, Abnormality of the t...	ORPHA:93476
Boomerang Dysplasia	Polyhydramnios, Hydrops fetalis, Severe short-limb dwarfism	ORPHA:1263
Dominant Beta-Thalassemia	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega...	ORPHA:231226
Potocki-Shaffer Syndrome	Wide nasal bridge, Parietal foramina, Underdeveloped nasal alae, Turricephaly, Brachycephaly, Sho...	OMIM:601224
Ritscher-Schinzel Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Depressed nasal bridge, Tetralogy of Fallot, Intra...	OMIM:220210
Craniosynostosis, Herrmann-Opitz Type	Intrauterine growth retardation, Oligohydramnios, Turricephaly, Brachycephaly, Convex nasal ridge...	ORPHA:2145
Lymphangiectasia, Pulmonary, Congenital	Wide nasal bridge, Depressed nasal bridge, Facial edema, Chylothorax, Edema, Lymphedema, Ascites,...	OMIM:265300
Pierpont Syndrome	Broad nasal tip, Failure to thrive, Decreased body weight, Brachycephaly, Short stature, Short no...	OMIM:602342
Hennekam Syndrome	Wide nasal bridge, Depressed nasal bridge, Chylothorax, Lymphedema, Ascites, Lymphopenia, Mild po...	ORPHA:2136
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Predominantly lower limb lymphedema, Palmar telangiectasia, Ascites, Pleural effusion, Abnormalit...	ORPHA:69735
Mosaic Variegated Aneuploidy Syndrome 2	Aortic regurgitation, Depressed nasal bridge, Rhizomelia, Duodenal atresia, Frontal bossing, Bulb...	OMIM:614114
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Protein-losing enteropathy, Failure to thrive, Cholestasis, Ascites, Intrauterin...	OMIM:608104
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Transaldolase Deficiency	Hepatic fibrosis, Depressed nasal bridge, Micronodular cirrhosis, Failure to thrive, Intrauterine...	OMIM:606003
Clark-Baraitser Syndrome	Depressed nasal bridge, Obesity, Anteverted nares, Brachycephaly, Dolichocephaly, High palate, Lo...	OMIM:617752
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,...	ORPHA:615
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Intrauteri...	ORPHA:2133
Roifman Syndrome	Underdeveloped nasal alae, Postnatal growth retardation, Intrauterine growth retardation, Narrow ...	OMIM:616651
Combined Oxidative Phosphorylation Defect Type 27	Dysphagia, Nonimmune hydrops fetalis	ORPHA:477774
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Trigonocephaly, Anteverted nares, Short nose, Ventricular septal defect	OMIM:618506
Ulnar Agenesis And Endocardial Fibroelastosis	Endocardial fibroelastosis, Hydrops fetalis, Neonatal death	OMIM:276822
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen...	OMIM:607616
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi...	OMIM:603552
Dyssegmental Dysplasia, Silverman-Handmaker Type	Severe short stature, Wide nasal bridge, Increased placental thickness, Abnormal heart morphology...	ORPHA:1865
Congenitally Uncorrected Transposition Of The Great Arteries	Biventricular hypertrophy, Abnormal mitral valve morphology, Ventricular septal defect, Abnormal ...	ORPHA:860
Farber Disease	Hepatic fibrosis, Recurrent upper respiratory tract infections, Failure to thrive, Ascites, Hepat...	ORPHA:333
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Plagiocephaly, Decreased fetal movement, Brachycephaly, Bradycardia, Flat occiput	ORPHA:2898
8P23.1 Microdeletion Syndrome	Hypoplastic left heart, Wide nasal bridge, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Intr...	ORPHA:251071
Cebalid Syndrome	Depressed nasal bridge, Depressed nasal ridge, Plagiocephaly, Platystencephaly, Anteverted nares,...	OMIM:618774
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney	ORPHA:90301
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Choanal atresia, Depressed nasal bridge, Abnormal heart morphology, Bulb...	ORPHA:284169
Campomelia, Cumming Type	Lymphedema, Oligohydramnios, Abnormal intestine morphology, Hydrops fetalis, Hepatomegaly, Dolich...	ORPHA:1318
Fatty Acyl-Coa Reductase 1 Deficiency	Short stature, Depressed nasal bridge, Growth delay, Short nose	ORPHA:438178
Pentasomy X	Wide nasal bridge, Plagiocephaly, Delayed puberty, Abnormal cardiac septum morphology, Short stature	ORPHA:11
Neurogenic Arthrogryposis Multiplex Congenita	Plagiocephaly, Abnormal heart morphology, Scaphocephaly, Oligohydramnios, Decreased fetal movemen...	ORPHA:1143
Hemochromatosis, Type 4	Cardiomyopathy, Increased circulating ferritin concentration, Hepatic steatosis, Hepatomegaly, Ar...	OMIM:606069
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Recurrent upper respiratory tract infections, Hemophagocytosis, Increased circulating ferritin co...	OMIM:613101
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Failure to thrive in infancy, Obesity, Broad nasal tip, Short nose	OMIM:613670
14Q24.1Q24.3 Microdeletion Syndrome	Wide nasal bridge, Abnormal heart morphology, Intestinal malrotation, Prominent nasal bridge, Tru...	ORPHA:401935
Bone Dysplasia, Lethal Holmgren Type	Depressed nasal ridge, Rhizomelia, Failure to thrive, Hypertrophic cardiomyopathy, Anteverted nar...	ORPHA:1842
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Hyperlipidemia, Splenom...	OMIM:232220
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Pulmonary edema, Left bundle branch block, Hepatomega...	OMIM:115197
Symptomatic Form Of Hfe-Related Hemochromatosis	Arrhythmia, Elevated jugular venous pressure, Cirrhosis, Weight loss, Hepatomegaly, Hypogonadotro...	ORPHA:465508
Fixed Subaortic Stenosis	Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Paroxysmal atrial fibrill...	ORPHA:3092
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Failure to thrive, Short nose	OMIM:618379
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Failure to thrive, Hepatic steatosis, Splenomegaly, Hepatomegaly, Hypertriglyce...	OMIM:614480
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Wide nasal bridge, Depressed nasal bridge, Plagiocephaly, Abnormal heart morphology, Bulbous nose...	ORPHA:369891
17P13.3 Microduplication Syndrome	Tall stature, High palate, Frontal bossing, Short nose, Wide nose	ORPHA:217385
Peroxisome Biogenesis Disorder 12A (Zellweger)	Wide nasal bridge, Cholelithiasis, Prominent nose, Scaphocephaly, Hyperbilirubinemia, Decreased f...	OMIM:614886
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Gastroesophageal reflux, Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy...	ORPHA:70472
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Hypoplastic left heart, Plagiocephaly, Gastroesophageal reflux, Failure to thrive, Overgrowth, Bi...	OMIM:619721
Global Developmental Delay With Or Without Impaired Intellectual Development	Plagiocephaly, Bulbous nose, Ventricular septal defect, Atrial septal defect, Short stature, Fron...	OMIM:618330
Prolidase Deficiency	Depressed nasal bridge, Failure to thrive, Splenomegaly, Prolonged neonatal jaundice, Diffuse tel...	OMIM:170100
Perlman Syndrome	Wide nasal bridge, High, narrow palate, Abnormal pancreas morphology, Tall stature, Anteverted na...	ORPHA:2849
Attrv30M Amyloidosis	Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia, Weight loss, Impotence	ORPHA:85447
Thrombocytopenia 3	Decreased mean platelet volume, Thrombocytopenia	OMIM:273900
Microcephaly-Microcornea Syndrome, Seemanova Type	Hypogonadism, Brachycephaly, Short stature, High palate, Growth delay	ORPHA:2528
Peroxisomal Acyl-Coa Oxidase Deficiency	Wide nasal bridge, Depressed nasal bridge, Brachycephaly, Dysphagia, Hepatomegaly, Frontal bossin...	OMIM:264470
Williams-Beuren Syndrome	Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, At...	OMIM:194050
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Mitral regurgitation, Patent foramen ovale, Mitral valve prolapse, Brachycephaly, High palate, Fr...	OMIM:615539
Gray Platelet Syndrome	Abnormality of the menstrual cycle, Epistaxis, Splenomegaly, Thrombocytopenia	ORPHA:721
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Failure to thrive, Cardiomyopathy, Congestive hear...	OMIM:212140
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosis, Cardiomegaly, Po...	OMIM:618278
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Intestinal lymphangiectasia, Elevated haptoglobin level, Postnatal growth retard...	OMIM:620632
Gaucher Disease	Aortic valve calcification, Pancytopenia, Cirrhosis, Hepatomegaly, Elevated circulating C-reactiv...	ORPHA:355
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Dextrotransposition of the great arte...	OMIM:619995
Noonan Syndrome 3	Hypoplastic nasal bridge, Juvenile myelomonocytic leukemia, Hypertrophic cardiomyopathy, Antevert...	OMIM:609942
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Poikiloderma With Neutropenia	Depressed nasal bridge, Edema, Underdeveloped nasal alae, Frontal bossing, Leukopenia, Splenomega...	OMIM:604173
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport...	ORPHA:3261
Al Amyloidosis	Xerostomia, Postural hypotension with compensatory tachycardia, Abnormal cardiac atrium morpholog...	ORPHA:85443
Cardiac Valvular Dysplasia 1	Valvular pulmonary stenosis, Edema, Tricuspid regurgitation, Muscular ventricular septal defect, ...	OMIM:212093
Cleidocranial Dysplasia, Recessive Form	Severe short stature, Brachycephaly	OMIM:216330
Immunodeficiency 69	Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Hepatosplenome...	OMIM:618963
Lethal Osteosclerotic Bone Dysplasia	Depressed nasal ridge, Intrauterine growth retardation, Anteverted nares, Median cleft palate, Sh...	ORPHA:1832
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Wide nasal bridge, Plagiocephaly, Broad columella, Hypertrophic cardiomyopathy, Narrow nasal brid...	OMIM:619383
Gómez-López-Hernández Syndrome	Short stature, Brachycephaly, Anteverted nares, Turricephaly	ORPHA:1532
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Wide nasal bridge, Gastroesophageal reflux, Frontal bossing, Bulbous nose, Intrauterine growth re...	OMIM:613604
Eosinophilic Gastroenteritis	Allergic rhinitis, Hematochezia, Hypoalbuminemia, Protein-losing enteropathy, Ascites, Leukocytos...	ORPHA:2070
Axin2-Related Attenuated Familial Adenomatous Polyposis	Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis	ORPHA:401911
Galactosialidosis	Severe short stature, Visceromegaly, Hepatosplenomegaly, Nonimmune hydrops fetalis, Conjunctival ...	OMIM:256540
Beta-Thalassemia	Cholelithiasis, Hepatitis, Hypertrophic cardiomyopathy, Microcytic anemia, Splenomegaly, Abnormal...	ORPHA:848
Capillary Malformation-Arteriovenous Malformation	Epistaxis, Chylothorax, Congestive heart failure, Abnormal heart morphology, Lymphedema, Cerebral...	ORPHA:137667
Microcephaly-Capillary Malformation Syndrome	Small for gestational age, Failure to thrive, Patent foramen ovale, Ventricular septal defect, At...	OMIM:614261
Beta-Thalassemia Major	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega...	ORPHA:231214
Diamond-Blackfan Anemia 16	Anemia, Atrial septal defect, Pulmonic stenosis	OMIM:617408
16P12.1P12.3 Triplication Syndrome	High, narrow palate, Failure to thrive, Abnormal heart morphology, Bulbous nose, Intrauterine gro...	ORPHA:485405
Down Syndrome	Decreased fertility, Protruding tongue, Acute megakaryocytic leukemia, Ventricular septal defect,...	ORPHA:870
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Hypogonadism, Sideroblastic anemia, Azoospermia, Sp...	OMIM:615234
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Cholestasis, Hepatic steatosis, Dysmenorrhea, Increased body weight, Cirrhosis, Hepatomegaly, Eso...	ORPHA:264580
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Failure to thrive in infancy, Cardiomegaly, Hyperprolinemia, Pulmonary arterial hypertension, Hyp...	OMIM:619064
Verheij Syndrome	Wide nasal bridge, Broad nasal tip, Intrauterine growth retardation, Anteverted nares, Truncus ar...	OMIM:615583
Mitochondrial Myopathy And Sideroblastic Anemia	Anemia, High palate, Delayed puberty, Short nose	ORPHA:2598
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Generalized edema, Pulmonary embolism, Intestinal lymphangiectasia, Budd-Chiari ...	OMIM:226300
Rhiny	Anteverted nares, Short nose	OMIM:180360
Chromosome 2Q37 Deletion Syndrome	Depressed nasal bridge, Broad nasal tip, Obesity, Anteverted nares, Arrhythmia, Brachycephaly, Su...	OMIM:600430
Takayasu Arteritis	Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Ga...	ORPHA:3287
Baraitser-Winter Syndrome 1	Aortic valve stenosis, Wide nasal bridge, Failure to thrive, Postnatal growth retardation, Anteve...	OMIM:243310
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Hyperlipidemia, Hyperur...	OMIM:232200
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Platyspondylic Dysplasia, Torrance Type	Depressed nasal bridge, Disproportionate short-limb short stature, Polyhydramnios, Hydrops fetali...	ORPHA:85166
9q subtelomeric deletion syndrome	Abnormal heart morphology, Anteverted nares, Protruding tongue, Short nose	DECIPHER:52
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hypertrophic cardiomyopathy, Anteverted nares, Short nose, Short stature, Pulmonic stenosis	ORPHA:2701
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Asplenia, Enlarged kidney, Cystic renal dysplasia	OMIM:615415
Noonan Syndrome 2	Wide nasal bridge, Depressed nasal bridge, Leukemia, Cardiomyopathy, Hypertrophic cardiomyopathy,...	OMIM:605275
Lessel-Kreienkamp Syndrome	Wide nasal bridge, Plagiocephaly, Gastroesophageal reflux, Scaphocephaly, Patent foramen ovale, B...	OMIM:619149
Greenberg Dysplasia	Bone marrow hypocellularity, Rhizomelia, Depressed nasal ridge, Disproportionate short-limb short...	OMIM:215140
Cat Eye Syndrome	Hypoplastic left heart, Total anomalous pulmonary venous return, Anal stenosis, Meckel diverticul...	OMIM:115470
Macrocephaly/Autism Syndrome	Depressed nasal bridge, Frontal bossing, Lymphopenia, Obesity, Large for gestational age, Splenom...	OMIM:605309
Cystic Fibrosis	Nasal polyposis, Decreased body mass index, Gastroesophageal reflux, Failure to thrive, Meconium ...	ORPHA:586
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Wide nasal bridge, Bifid uvula, Bulbous nose, Anteverted nares, Decreased body weight, Dysplastic...	OMIM:300958
Walker-Warburg Syndrome	Abnormal circulating creatine kinase concentration, Hypoplasia of penis, Anophthalmia, Microphtha...	ORPHA:899
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Schneckenbecken Dysplasia	Disproportionate short-limb short stature, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios,...	OMIM:269250
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic valve stenosis, Aortic regurgitation, Failure to thrive, Tetralogy of Fallot, Obesity, Ant...	ORPHA:96147
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Wide nasal bridge, Anal stenosis, Broad nasal tip, Plagiocephaly, Anterior plagiocephaly, Agangli...	OMIM:614749
Congenital Disorder Of Glycosylation, Type Iie	Gastroesophageal reflux, Secundum atrial septal defect, Failure to thrive, Congestive heart failu...	OMIM:608779
Teebi Hypertelorism Syndrome 1	Wide nasal bridge, Depressed nasal bridge, Coronal craniosynostosis, Anteverted nares, Ventricula...	OMIM:145420
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Multiple renal cysts, Thrombocytope...	ORPHA:464329
Microphthalmia, Syndromic 9	Renal hypoplasia, Multilobulated spleen, Bilateral microphthalmos, Horseshoe kidney, Anophthalmia...	OMIM:601186
Progressive Familial Intrahepatic Cholestasis	Failure to thrive, Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Short stature, Jaundice	ORPHA:172
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Gastroesophageal reflux, Intrauterine growth retardation, Short stature, Growth delay, Short nose	ORPHA:1495
Cerebrooculonasal Syndrome	Hypoplasia of penis, Anophthalmia	ORPHA:66625
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Lymphopenia, Weight loss, Hypoproteinemia, Ascites, Pleural effusion, Hypoca...	ORPHA:90362
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Short stature, Slender build, Brachycephaly	OMIM:300699
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Hepatomeg...	OMIM:620010
Glutamine Deficiency, Congenital	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Hyperammonemia, Neonatal death, Hypo...	OMIM:610015
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Failure to thrive, Neonatal cholestatic liver disease, Splenomegaly,...	ORPHA:79301
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Heparan sulfate excretion in urine, Hepatosplenomegaly, Urinary glycosaminoglyca...	ORPHA:505248
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Wide nasal bridge, Depressed nasal bridge, Gastroesophageal reflux, Tetra...	OMIM:618316
Diaphanospondylodysostosis	Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia	OMIM:608022
Congenital Erythropoietic Porphyria	Red-brown urine, Purple urine, Leukopenia, Increased urinary porphobilinogen, Erythroid hyperplas...	ORPHA:79277
Neonatal Lupus Erythematosus	Atrioventricular block, Dilated cardiomyopathy, Aplastic anemia, Abnormal heart morphology, Pancy...	ORPHA:398124
Yunis-Varon Syndrome	Postnatal growth retardation, Ventricular septal defect, Severe failure to thrive, Atrial septal ...	ORPHA:3472
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Hepatic fibrosis, Dilated cardiomyopathy, Lymphadenitis, Failure to thrive, Cardiom...	OMIM:615895
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Depressed nasal bridge, Fetal distress, Birth length greater than 97th percentile, Large for gest...	OMIM:300868
Intellectual Developmental Disorder, Autosomal Dominant 26	Wide nasal bridge, Depressed nasal bridge, Intrauterine growth retardation, Anteverted nares, Pro...	OMIM:615834
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Hypospadias, Anophthalmia, Microphthalmia	ORPHA:77298
Cholestasis, Progressive Familial Intrahepatic, 1	Epistaxis, Cholelithiasis, Failure to thrive, Splenomegaly, Hepatomegaly, Cirrhosis, Intrahepatic...	OMIM:211600
Hepatoportal Sclerosis	Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periport...	ORPHA:64743
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Gastroesophageal reflux, Postnatal growth retardation, Intrauterine growth retardation, Brachycep...	OMIM:615419
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hepatic fibrosis, Short uvula, Ascites, Short stature, Dolichocephaly, High palate, Hydrops fetal...	OMIM:614091
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Wide nasal bridge, Depressed nasal ridge, Plagiocephaly, Underdeveloped nasal alae, Intestinal ma...	ORPHA:77300
Periventricular Nodular Heterotopia 7	Failure to thrive, Anteverted nares, Ventricular septal defect, Dolichocephaly, Cleft palate, Sho...	OMIM:617201
Peho-Like Syndrome	Edema, Short nose	OMIM:617507
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Depressed nasal bridge, Plagiocephaly, Underdeveloped nasal alae, Intrauterine growth retardation...	OMIM:619005
Cornelia De Lange Syndrome 5	Depressed nasal bridge, Broad nasal tip, Gastroesophageal reflux, Hypogonadism, Postnatal growth ...	OMIM:300882
Microphthalmia, Syndromic 5	Micropenis, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:610125
Timothy Syndrome	Depressed nasal bridge, Atrioventricular block, Tetralogy of Fallot, Hypocalcemia, Patent foramen...	OMIM:601005
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Congestive heart failure, Abnormal pericardium morphology, Leukocytosis, Pleural...	ORPHA:67
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Classical Ehlers-Danlos Syndrome	Premature rupture of membranes, Gastroesophageal reflux, Arterial rupture, Blepharochalasis, Mitr...	ORPHA:287
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul...	OMIM:237800
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Unilateral renal agenesis, Hydronephrosis, Thrombocytopenia, Hypospadias, Increased mean platelet...	ORPHA:487796
Recombinant Chromosome 8 Syndrome	Depressed nasal bridge, Tetralogy of Fallot, Postnatal growth retardation, Anteverted nares, Vent...	OMIM:179613
Mosaic Variegated Aneuploidy Syndrome 1	Depressed nasal bridge, Leukemia, Duodenal atresia, Postnatal growth retardation, Intrauterine gr...	OMIM:257300
Thrombocytopenia 10	Decreased mean platelet volume, Thrombocytopenia	OMIM:620484
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Hepatic fibrosis, Microglossia, Tricuspid regurgitation, Hamartoma of tongue, Intestinal malrotat...	OMIM:263520
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Failure to thrive, Cardiomyopathy, Splenomegaly, Macrocytic anemia, Hyperprolinemia, Hyperalanine...	OMIM:619046
American Trypanosomiasis	Periorbital edema, Cardiomyopathy, Congestive heart failure, Splenomegaly, Hepatomegaly, Arrhythm...	ORPHA:3386
Igg4-Related Kidney Disease	Chronic kidney disease, Acute kidney injury, Decreased retinol-binding protein level, Urinary bla...	ORPHA:449395
Congenital Heart Defects And Ectodermal Dysplasia	Depressed nasal bridge, Atrioventricular canal defect, Anteverted nares, Prominent nasal bridge, ...	OMIM:617364
H Syndrome	Microcytic anemia, Hepatosplenomegaly, Abnormality of the kidney, Hypertriglyceridemia, Micropeni...	ORPHA:168569
Pseudo-Torch Syndrome 3	Lymphadenitis, Increased circulating ferritin concentration, Leukocytosis, Cardiomegaly, Congenit...	OMIM:618886
8Q12 Microduplication Syndrome	Wide nasal bridge, Gastroesophageal reflux, Ventricular septal defect, Brachycephaly, Atrial sept...	ORPHA:228399
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Wide nasal bridge, Plagiocephaly, Anteverted nares, Unilambdoid synostosis, Brachycephaly, Short ...	OMIM:618577
Cholestasis, Progressive Familial Intrahepatic, 5	Failure to thrive, Ascites, Pleural effusion, Hyperammonemia, Nonimmune hydrops fetalis, Cirrhosi...	OMIM:617049
Hypocalcemia, Autosomal Dominant 1	Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca...	OMIM:601198
Baller-Gerold Syndrome	Brachyturricephaly, Anteriorly placed anus, Frontal bossing, Failure to thrive in infancy, Intrau...	ORPHA:1225
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Wide nasal bridge, Facial telangiectasia in butterfly midface distribution, Lymphedema, Palpebral...	OMIM:137940
Adenocarcinoma Of The Anal Canal	Intestinal bleeding, Anal stenosis, Neoplasm of the liver, Neoplasm of the rectum, Lymphadenopath...	ORPHA:424016
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Anteverted nares, Arrhythmia, Perimembranous ventricular septal defect, Transposition of the grea...	OMIM:617877
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Depressed nasal bridge, Obesity, Anteverted nares, Short columella, Turricephaly, Brachycephaly, ...	ORPHA:171839
Miller-Dieker Syndrome	Polyhydramnios, Anteverted nares, Growth delay, Short nose	ORPHA:531
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, E...	OMIM:174000
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Persistent fetal circulat...	ORPHA:363705
Harel-Yoon Syndrome	Hypertrophic cardiomyopathy, Frontal bossing, Short nose	OMIM:617183
Adams-Oliver Syndrome 6	Hepatic fibrosis, Tricuspid regurgitation, Calvarial skull defect, Portal hypertension, Splenomeg...	OMIM:616589
Macrocephaly-Intellectual Disability-Autism Syndrome	Depressed nasal bridge, Intestinal polyposis, Hepatic steatosis, Lymphoid nodular hyperplasia, Fr...	ORPHA:210548
Polycythemia Vera	Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral ischemia, Throm...	OMIM:263300
Trigonocephaly 1	Wide nasal bridge, High, narrow palate, Meckel diverticulum, Trigonocephaly, Craniosynostosis, Sh...	OMIM:190440
Cockayne Syndrome Type 1	Renal insufficiency, Anophthalmia, Proteinuria, Anemia, Increased blood urea nitrogen, Hepatomegaly	ORPHA:90321
Coffin-Siris Syndrome 6	High, narrow palate, Depressed nasal bridge, Plagiocephaly, Broad nasal tip, Gastroesophageal ref...	OMIM:617808
Intellectual Disability-Strabismus Syndrome	Depressed nasal bridge, Plagiocephaly, Gastroesophageal reflux, Failure to thrive, Intrauterine g...	ORPHA:363528
Babesiosis	Congestive heart failure, Leukopenia, Splenomegaly, Thrombocytopenia, Recurrent pharyngitis, Hepa...	ORPHA:108
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Depressed nasal ridge, Ascites, Oligohydramnios, Polyhydramnios, Splenomegaly, Anemia	ORPHA:1046
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Decreased platelet glycoprotein Ib, Proteinuria, Neutropenia, Thrombocytopenia, Ma...	OMIM:603585
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ...	ORPHA:1329
Lowry-Maclean Syndrome	High, narrow palate, Choanal atresia, Pyloric stenosis, Abnormality of the abdominal organs, Atri...	ORPHA:2409
Lymphoproliferative Syndrome 1	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas...	OMIM:613011
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Wide nasal bridge, Failure to thrive, Intrauterine growth retardation, Prominent nasal bridge, De...	OMIM:617452
Rhizomelic Limb Shortening With Dysmorphic Features	Wide nasal bridge, Rhizomelia, Plagiocephaly, Obesity, Patent foramen ovale	OMIM:618821
X-Linked Intellectual Disability, Sutherland-Haan Type	Decreased body weight, Brachycephaly, Short stature, Anal atresia, Small for gestational age	ORPHA:93950
Hypermobile Ehlers-Danlos Syndrome	Menometrorrhagia, Epistaxis, High, narrow palate, Gastroesophageal reflux, Pelvic organ prolapse,...	ORPHA:285
Developmental And Epileptic Encephalopathy 75	Wide nasal bridge, Cardiomyopathy, Anteverted nares, Prolonged neonatal jaundice, Short nose	OMIM:618437
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Stage 5 chronic kidney disease, Hyperlipidemia, Hyperuricemia, Nephrolithiasis,...	ORPHA:79259
Craniodigital-Intellectual Disability Syndrome	Short stature, Brachycephaly, Narrow nasal bridge, Short nose	ORPHA:1514
ERI1-related disease	Depressed nasal bridge, Failure to thrive, Velopharyngeal insufficiency, Tricuspid regurgitation,...	OMIM:608739
Propionic Acidemia	Failure to thrive, Cardiomyopathy, Pancytopenia, Hyperglycinemia, Hyperammonemia, Hepatomegaly, C...	OMIM:606054
Tetrasomy 12P	Anteverted nares, Cachexia, Short stature, Abnormal soft palate morphology, Anal atresia, Frontal...	ORPHA:884
Diabetes Insipidus, Neurohypophyseal	Short nose, Wide nose	OMIM:125700
Autosomal Recessive Omodysplasia	Depressed nasal bridge, Rhizomelia, Anteverted nares, Increased nuchal translucency, Short statur...	ORPHA:93329
Renal-Hepatic-Pancreatic Dysplasia 1	Polysplenia, Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency, Splenomegaly, ...	OMIM:208540
Chung-Jansen Syndrome	Meconium stained amniotic fluid, Obesity, Anteverted nares, High palate, Short nose	OMIM:617991
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Ascites, Pleural effusion, Hyperlipidemia, Anemia, Hypertension, Edema	OMIM:603278
Microgastria-Limb Reduction Defect Syndrome	Microgastria, Plagiocephaly, Gastroesophageal reflux, Failure to thrive, Frontal bossing, Intesti...	ORPHA:2538
Bannayan-Riley-Ruvalcaba Syndrome	Narrow palate, Abnormal large intestine morphology, Lymphedema, Tall stature, Anteverted nares, I...	ORPHA:109
Smith-Magenis Syndrome	Wide nasal bridge, Depressed nasal bridge, Gastroesophageal reflux, Failure to thrive in infancy,...	ORPHA:819
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydronephrosis, Urethral atresia, Enlarged kidney	OMIM:314390
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Failure to thrive, Brachycephaly, Hyperhomocystinemia, Short stature, Methylmalonic acidemia	OMIM:309541
Microcephaly 26, Primary, Autosomal Dominant	Wide nasal bridge, Failure to thrive, Trigonocephaly, Prominent nasal bridge, Protruding tongue, ...	OMIM:619179
Bardet-Biedl Syndrome 8	Hypogonadism, Brachycephaly, Obesity, Situs inversus totalis	OMIM:615985
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Vitamin B12-Unresponsive Methylmalonic Acidemia	Cardiomyopathy, Leukopenia, Hyperammonemia, Macrocytic anemia, Hepatomegaly, Pancreatitis, Thromb...	ORPHA:27
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Aplastic anemia, Hemophagocytosis, Hepatitis, Increased circ...	OMIM:300635
Hypomandibular Faciocranial Dysostosis	Bifid uvula, Aplasia/Hypoplasia of the tongue, Trigonocephaly, Anteverted nares, Brachycephaly, C...	ORPHA:1790
Pontocerebellar Hypoplasia, Type 3	High, narrow palate, Depressed nasal bridge, Decreased body weight, Brachycephaly, Short stature,...	OMIM:608027
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Abnormal B cell coun...	OMIM:617514
Al Kaissi Syndrome	Wide nasal bridge, Depressed nasal bridge, High, narrow palate, Broad nasal tip, Postnatal growth...	OMIM:617694
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Primary amenorrhea, Hepatomega...	OMIM:612526
Craniofacial Dyssynostosis With Short Stature	Brachyturricephaly, Ventricular septal defect, Brachycephaly, Short stature, Abnormal shape of th...	OMIM:218350
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Allergic rhinitis, Failure to thrive, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of ...	OMIM:612714
Chromosome 19Q13.11 Deletion Syndrome, Distal	Wide nasal bridge, Failure to thrive, Underdeveloped nasal alae, Postnatal growth retardation, In...	OMIM:613026
Prune1-Related Neurological Syndrome	Hypertrophic cardiomyopathy, Plagiocephaly, Gastroesophageal reflux, Elevated circulating creatin...	ORPHA:544469
Congenital Muscular Dystrophy, Fukuyama Type	Dilated cardiomyopathy, Plagiocephaly, Intrauterine growth retardation, Brachycephaly, Dolichocep...	ORPHA:272
Wolman Disease	Ascites, Splenomegaly, Hepatomegaly, Cachexia, Anemia, Bone-marrow foam cells, Growth delay, Esop...	ORPHA:75233
Mucopolysaccharidosis Type 7	Hepatitis, Lymphedema, Ascites, Splenomegaly, Hydrops fetalis	ORPHA:584
Congenital Heart Defects And Skeletal Malformations Syndrome	Failure to thrive, Intestinal malrotation, Narrow nose, Intrauterine growth retardation, Ventricu...	OMIM:617602
Anophthalmia Plus Syndrome	Anophthalmia	ORPHA:1104
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Depressed nasal bridge, Plagiocephaly, Tall stature, Obesity, Bulbous nose, Brachycephaly, Fronta...	OMIM:618430
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Intrauterine growth retardation, Obesity, Narrow nasal bridge, Mitral regur...	ORPHA:254346
Portal Hypertension, Noncirrhotic, 2	Epistaxis, Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly,...	OMIM:619463
Summitt Syndrome	Depressed nasal ridge, Plagiocephaly, Tall stature, Obesity, Craniosynostosis, Wide nose	ORPHA:3210
Immunodeficiency 27A	Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Th...	OMIM:209950
Mevalonic Aciduria	Fluctuating splenomegaly, Failure to thrive, Underdeveloped nasal alae, Failure to thrive in infa...	OMIM:610377
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Depressed nasal bridge, Atrial flutter, Congestive heart failure, Tricuspi...	ORPHA:324410
Acromicric Dysplasia	Severe short stature, Bulbous nose, Anteverted nares, Short nose	ORPHA:969
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Wide nasal bridge, Failure to thrive, Intrauterine growth retardation, Polyhydramnios, Atrial sep...	OMIM:618005
Lymphatic Malformation 1	Predominantly lower limb lymphedema, Hyperkeratosis over edematous areas, Hypoplasia of lymphatic...	OMIM:153100
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Depressed nasal bridge, Brachycephaly, Short stature, Craniosynostosis, High palate, Frontal boss...	ORPHA:314575
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Dilated cardiomyopathy, Hyperammonemia, Elevated circulating creatine kinase concentration, Cardi...	OMIM:600649
Thrombocytopenia 1	Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia	OMIM:313900
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Vasculitis, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopen...	OMIM:308240
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Failure to thrive, Cholestasis, Intrauterine growth retardat...	OMIM:614576
16P11.2P12.2 Microdeletion Syndrome	Gastroesophageal reflux, Tricuspid regurgitation, Bulbous nose, Intrauterine growth retardation, ...	ORPHA:261211
Congenital Myopathy 22B, Severe Fetal	Wide nasal bridge, Ascites, Pleural effusion, Polyhydramnios, Decreased fetal movement, Nonimmune...	OMIM:620369
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Lymphedema, Portal hypertension, Splenomegaly, Neonatal cholestatic ...	ORPHA:1414
Follicular Lymphoma	Lymphedema, Pleural effusion, Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum mor...	ORPHA:545
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatosplenomegaly, Hypersplenism, Increased LDL cholesterol concentra...	OMIM:278000
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Flat occiput, Failure to thrive, Intrauterine growth retardation, Prominent nasal bridge, Decreas...	ORPHA:505237
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Plagiocephaly, Failure to thrive in infancy, Bulbous nose, Intrauterine growth retardation, Promi...	OMIM:616801
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Mitral regurgitation, Neutropenia, Hepatomegaly, High palate, Ne...	OMIM:612541
Mandibulofacial Dysostosis, Guion-Almeida Type	Choanal atresia, Trigonocephaly, Anteverted nares, Ventricular septal defect, Esophageal atresia,...	OMIM:610536
Gomez-Lopez-Hernandez Syndrome	Skull asymmetry, Anteverted nares, Turricephaly, Brachycephaly, Short stature, Craniosynostosis, ...	OMIM:601853
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Wide nasal bridge, Abnormal heart morphology, Bulbous nose, Cleft palate, Short stature, Dolichoc...	OMIM:618571
Baker-Gordon Syndrome	Prominent nasal tip, Gastroesophageal reflux, Short nose	OMIM:618218
Codas Syndrome	Depressed nasal bridge, Anteverted nares, Midline defect of the nose, Ventricular septal defect, ...	ORPHA:1458
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Tetralogy of Fallot, Ventricular se...	OMIM:153400
Microphthalmia With Linear Skin Defects Syndrome	Severe short stature, Wide nasal bridge, Dilated cardiomyopathy, Failure to thrive, Hypertrophic ...	ORPHA:2556
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Depressed nasal bridge, Macroglossia, Failure to thrive, Anteverted nares, Prolonged neonatal jau...	OMIM:613038
Immunodeficiency 54	Reduced natural killer cell count, Failure to thrive, Postnatal growth retardation, Intrauterine ...	OMIM:609981
Chondrodysplasia Punctata 1, X-Linked Recessive	Anosmia, Depressed nasal bridge, Hypogonadism, Short nasal septum, Short stature, Short nose	OMIM:302950
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ectopic anus, Plagiocephaly, Cleft palate, Ventricular septal defect	ORPHA:94066
Smith-Magenis Syndrome	Wide nasal bridge, Velopharyngeal insufficiency, Abnormal heart morphology, Increased body weight...	OMIM:182290
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Wide nasal bridge, Protein-losing enteropathy, Thickened nuchal skin fold, Lymphedema, Ascites, P...	OMIM:235255
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Depressed nasal bridge, Plagiocephaly, Gastroesophageal reflux, Failure to thrive, Intrauterine g...	OMIM:619833
Distal Duplication 18Q	Choanal atresia, Anteverted nares, Prominent nasal bridge, Thickened nuchal skin fold, Dolichocep...	ORPHA:1716
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Failure to thrive, Splenomegaly, Abnormal intestine morphology, Lymphadeno...	ORPHA:397596
Frontofacionasal Dysplasia	Choanal atresia, Depressed nasal ridge, Bifid nasal tip, Depressed nasal bridge, Brachycephaly, D...	ORPHA:1791
Leishmaniasis	Hypoalbuminemia, Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Hepatome...	ORPHA:507
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Depressed nasal bridge, Coronal craniosynostosis, Underdeveloped nasal alae, Hypogonadism, Intrau...	ORPHA:228390
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Wide nasal bridge, Gastroesophageal reflux, Skull asymmetry, Velopharyngeal insufficiency, Tetral...	OMIM:614701
Generalized Pseudohypoaldosteronism Type 1	Hypovolemic shock, Cholelithiasis, Recurrent tonsillitis, Failure to thrive in infancy, Increased...	ORPHA:171876
Congenital Rubella Syndrome	Intrauterine growth retardation, Splenomegaly, Ventricular septal defect, Hepatomegaly, Anemia, A...	ORPHA:290
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy, Anemia	ORPHA:100024
Cronkhite-Canada Syndrome	Gastrointestinal carcinoma, Lymphedema, Furrowed tongue, Stomach cancer, Intestinal polyposis, Sp...	ORPHA:2930
Hydrolethalus	Anophthalmia, Microphthalmia	ORPHA:2189
Camptodactyly Syndrome, Guadalajara Type 1	Depressed nasal bridge, Intrauterine growth retardation, Anteverted nares, Brachycephaly, Short s...	ORPHA:1327
Bainbridge-Ropers Syndrome	Breech presentation, High palate, Short nose, Broad nasal tip, Gastroesophageal reflux, Trigonoce...	OMIM:615485
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Decreased circulating carnitine concentration, Gastroesophageal reflux, Hepa...	OMIM:201475
Radiation Proctitis	Hematochezia, Arteritis, Abnormal rectum morphology, Intestinal obstruction, Rectal fistula, Abno...	ORPHA:70475
Desmosterolosis	Severe short stature, Depressed nasal bridge, Bifid uvula, Failure to thrive, Abnormality of the ...	ORPHA:35107
6Q25 Microdeletion Syndrome	Wide nasal bridge, Plagiocephaly, Failure to thrive, Short stature, High palate, Cleft palate	ORPHA:251056
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Polyhydramnios, Frontal bossing, Short nose, Duodenal stenosis	ORPHA:2547
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Failure to thrive, Trigonocephaly, Polyhydramnios, Elevated circulating creatine kinase concentra...	ORPHA:329178
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Short columella, Short nose	OMIM:155050
Maxillonasal Dysplasia	Depressed nasal bridge, Depressed nasal ridge, Short columella, Abnormal nostril morphology, Clef...	ORPHA:1248
Autosomal Dominant Spastic Paraplegia Type 29	Hiatus hernia, Abnormal rectum morphology, Hyperbilirubinemia	ORPHA:101009
Degcags Syndrome	Oral-pharyngeal dysphagia, Cholestasis, Hepatosplenomegaly, Pancytopenia, Hyperbilirubinemia, Pro...	OMIM:619488
Pde4D Haploinsufficiency Syndrome	Depressed nasal bridge, Hypotension, Postnatal growth retardation, Obesity, Intrauterine growth r...	ORPHA:439822
Intellectual Developmental Disorder, X-Linked 30	Anteverted nares, Prominent nasal bridge, Short stature, High palate, Short nose	OMIM:300558
Glycogen Storage Disease Of Heart, Lethal Congenital	Biventricular hypertrophy, Pulmonary edema, Breech presentation, Increased myocardial glycogen co...	OMIM:261740
Castleman Disease	Mediastinal lymphadenopathy, Restrictive cardiomyopathy, Anasarca, Follicular hyperplasia, Intest...	ORPHA:160
Mucopolysaccharidosis, Type Iiib	Recurrent upper respiratory tract infections, Splenomegaly, Cardiomegaly, Hepatomegaly, Asymmetri...	OMIM:252920
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Leukocytosis,...	OMIM:603903
Chromosome 6Q11-Q14 Deletion Syndrome	Broad nasal tip, Prominent nasal bridge, Short stature, High palate, Short nose	OMIM:613544
Congenital Tricuspid Valve Dysplasia	Small for gestational age, Premature birth, Tricuspid regurgitation, Intrauterine growth retardat...	ORPHA:555874
Denys-Drash Syndrome	Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ...	OMIM:194080
Mucopolysaccharidosis, Type Ii	Severe short stature, Macroglossia, Intestinal pseudo-obstruction, Congestive heart failure, Abno...	OMIM:309900
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Choanal atresia, Gastroesophageal reflux, Hepatitis, Failure to thrive in infancy, Pancytopenia, ...	OMIM:613385
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Lymphocytosis, Elevated circulating C-reactive protein concentrat...	OMIM:617718
Beta-Thalassemia Intermedia	Abnormality of iron homeostasis, Cholelithiasis, Extramedullary hematopoiesis, Persistence of hem...	ORPHA:231222
Intellectual Developmental Disorder, Autosomal Dominant 48	Plagiocephaly, Echogenic intracardiac focus, Intrauterine growth retardation, Anteverted nares, P...	OMIM:617751
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Depressed nasal bridge, Abnormal B cell morphology, Intrauterine growth retardation, Short nose	OMIM:616910
Fg Syndrome Type 1	Choanal atresia, Pyloric stenosis, Plagiocephaly, Gastroesophageal reflux, Abnormal large intesti...	ORPHA:93932
Autoimmune Lymphoproliferative Syndrome	Vasculitis, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Fol...	OMIM:601859
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Proximal tubulopathy, Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentra...	OMIM:241150
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration...	ORPHA:158057
Arterial Calcification, Generalized, Of Infancy, 2	Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ...	OMIM:614473
Phocomelia, Schinzel Type	High, narrow palate, Disproportionate short stature, Intrauterine growth retardation, Calvarial s...	ORPHA:2879
Cockayne Syndrome Type 2	Hepatomegaly, Anophthalmia	ORPHA:90322
Fetal Alcohol Syndrome	Intrauterine growth retardation, Anteverted nares, Cleft palate, Atrial septal defect, Short stat...	ORPHA:1915
Trisomy 12P	Wide nasal bridge, Turricephaly, Thickened nuchal skin fold, Short stature, Anal atresia, Cleft p...	ORPHA:1699
Gaucher Disease, Type I	Aortic valve stenosis, Epistaxis, Pancytopenia, Hypersplenism, Mitral regurgitation, Splenomegaly...	OMIM:230800
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Truncal obesity, Short nose	ORPHA:2429
Idiopathic Pulmonary Hemosiderosis	Diffuse alveolar hemorrhage, Failure to thrive, Hepatosplenomegaly, Cardiomegaly, Iron deficiency...	ORPHA:99931
Cardiofaciocutaneous Syndrome	Depressed nasal bridge, Lymphedema, Hypertrophic cardiomyopathy, Abnormal heart valve morphology,...	ORPHA:1340
Whipple Disease	Hypotension, Gastrointestinal hemorrhage, Splenomegaly, Hyponatremia, Hepatomegaly, Anemia, Cache...	ORPHA:3452
Autosomal Recessive Polycystic Kidney Disease	Acute kidney injury, Oliguria, Recurrent urinary tract infections, Hepatosplenomegaly, Reduced re...	ORPHA:731
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Depressed nasal bridge, Recurrent upper respiratory tract infections, Anteverted nares, B lymphoc...	OMIM:614069
Gillessen-Kaesbach-Nishimura Syndrome	Periportal fibrosis, Underdeveloped nasal alae, Abnormal heart morphology, Oligohydramnios, Brach...	OMIM:263210
Distal Deletion 10Q	Wide nasal bridge, Failure to thrive, Postnatal growth retardation, Prominent nose, Prominent nas...	ORPHA:96148
Amyloidosis, Hereditary Systemic 2	Cholestasis, Splenomegaly, Hepatomegaly, Hypertension, Edema	OMIM:105200
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Lymphedema, Leukocytosis, Splenomegaly, Weight loss,...	ORPHA:3226
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu...	ORPHA:822
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Wide nasal bridge, Gastroesophageal reflux, Bulbous nose, Mild short stature, Short nose	OMIM:620292
Adult-Onset Still Disease	Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Increased circu...	ORPHA:829
Pseudodiastrophic Dysplasia	Severe short stature, Rhizomelia, Failure to thrive, Anteverted nares, Brachycephaly, Frontal bos...	OMIM:264180
Pparg-Related Familial Partial Lipodystrophy	Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Hyperuric...	ORPHA:79083
Fg Syndrome 5	Depressed nasal bridge, Anteverted nares, Trigonocephaly, Short nose	OMIM:300581
Robinow Syndrome, Autosomal Recessive 2	Wide nasal bridge, Broad nasal tip, Anteverted nares, Cleft soft palate, Absent uvula, Bicuspid a...	OMIM:618529
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Aortic valve stenosis, Depressed nasal bridge, Trigonocephaly, Scaphocephaly, Brachycephaly, Sagi...	ORPHA:459061
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Depressed nasal bridge, Intrauterine growth retardation, Ventricular septal defect, Brachycephaly...	OMIM:618142
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Colitis, T lymphocytopenia, Growth...	OMIM:619164
Bartter Syndrome, Type 5, Antenatal, Transient	Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I...	OMIM:300971
Noonan Syndrome With Multiple Lentigines	Wide nasal bridge, Hypertrophic cardiomyopathy, Bundle branch block, Intrauterine growth retardat...	ORPHA:500
Danon Disease	Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul...	OMIM:300257
Donnai-Barrow Syndrome	Intestinal malrotation, Depressed nasal bridge, Short nose, Ventricular septal defect	ORPHA:2143
Blomstrand Lethal Chondrodysplasia	Depressed nasal bridge, Rhizomelia, Neonatal short-limb short stature, Anteverted nares, Protrudi...	ORPHA:50945
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Plagiocephaly, Gastroesophageal reflux, Failure to thrive, Decreased fetal movement, Brachycephal...	OMIM:618603
Acquired Von Willebrand Syndrome	Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,...	ORPHA:99147
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Failure to thrive, Splenomegaly, Intermittent jaundice, Hepatomegaly, C...	OMIM:601847
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Polysplenia, Enlarged kidney, Cystic renal dysplasia	OMIM:200995
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope...	OMIM:187900
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Microphthalmia	ORPHA:139471
Microform Holoprosencephaly	Choanal atresia, Tetralogy of Fallot, Intrauterine growth retardation, Narrow nasal bridge, Antev...	ORPHA:280200
Ogden Syndrome	Flared nostrils, Torsade de pointes, Postnatal growth retardation, Hyperbilirubinemia, Ventricula...	OMIM:300855
Lig4 Syndrome	Wide nasal bridge, Failure to thrive, Pancytopenia, Prominent nose, Telangiectasia, Amenorrhea, B...	OMIM:606593
Inverted Duplicated Chromosome 15 Syndrome	Broad nasal tip, Tetralogy of Fallot, Hypogonadism, Ventricular septal defect, Brachycephaly, Hig...	ORPHA:3306
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Frontal bossing	OMIM:615085
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Gastroesophageal reflux, Congestive heart failure, Abnormal lymph no...	ORPHA:85450
Mandibulofacial Dysostosis-Microcephaly Syndrome	Trigonocephaly, Atrial septal defect, Short nose, Short stature, Cleft palate	ORPHA:79113
Tangier Disease	Decreased HDL cholesterol concentration, Splenomegaly, Elevated circulating apolipoprotein A-II c...	OMIM:205400
C Syndrome	Wide nasal bridge, Failure to thrive, Trigonocephaly, Anteverted nares, Ventricular septal defect...	OMIM:211750
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Portal hypertension, Leukocytosis...	ORPHA:824
Hurler Syndrome	Wide nasal bridge, Depressed nasal bridge, Macroglossia, Growth delay, Cardiomyopathy, Frontal bo...	ORPHA:93473
Stormorken Syndrome	Epistaxis, Howell-Jolly bodies, Prominent nose, Elevated circulating creatine kinase concentratio...	OMIM:185070
Autoimmune Lymphoproliferative Syndrome, Type Iia	Vasculitis, Gastrointestinal hemorrhage, Chronic noninfectious lymphadenopathy, Autoimmune hemoly...	OMIM:603909
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Plagiocephaly, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Submuc...	ORPHA:457279
Erythrocytosis, Familial, 1	Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased circulating hemoglob...	OMIM:133100
Craniofrontonasal Dysplasia	Wide nasal bridge, Depressed nasal ridge, Plagiocephaly, Midline defect of the nose, Brachycephal...	ORPHA:1520
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Generalized edema, Hemophagocytosis, Failure to thrive, Increased circulating fe...	OMIM:267700
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Depressed nasal bridge, Plagiocephaly, Bulbous nose, Patent foramen ovale, Brachycephaly, Transpo...	OMIM:616789
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Lambdoidal craniosynostosis, Depressed nasal bridge, Restrictive cardiomyopathy, Large for gestat...	OMIM:615398
Opsismodysplasia	Severe short stature, Depressed nasal bridge, Splenomegaly, Hepatomegaly, Frontal bossing, Short ...	ORPHA:2746
Leukocyte Adhesion Deficiency, Type Iii	Epistaxis, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leuk...	OMIM:612840
Solitary Median Maxillary Central Incisor	Anophthalmia, Microphthalmia	OMIM:147250
Cardiofaciocutaneous Syndrome 1	Depressed nasal bridge, Gastroesophageal reflux, Failure to thrive, Hypertrophic cardiomyopathy, ...	OMIM:115150
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency	Brachycephaly	ORPHA:404493
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short stature, Small for gestational age, Short nose	ORPHA:289266
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Ascites, Leukop...	ORPHA:381
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Depressed nasal bridge, Reduced natural killer cell count, Failure to thrive, Anteverted nares, P...	OMIM:242860
Gaucher Disease Type 1	Hepatosplenomegaly, Pancytopenia, Hypersplenism, Cirrhosis, Hepatomegaly, Elevated circulating CC...	ORPHA:77259
Chondrodysplasia With Joint Dislocations, Gpapp Type	Wide nasal bridge, Coronal craniosynostosis, Short nose, Short stature, Cleft palate	OMIM:614078
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Depressed nasal bridge, Postnatal growth retardation, Intrauterine growth retardation, Craniosyno...	OMIM:614732
Oculoskeletodental Syndrome	Wide nasal bridge, Protein-losing enteropathy, Broad columella, Hypercalcemia, Splenomegaly, Hypo...	OMIM:618440
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Wide nasal bridge, Anal stenosis, Broad nasal tip, Decreased fetal movement, Aganglionic megacolo...	OMIM:614207
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Portal fibrosis, Increased total iron binding capacity, Hyperbilirubinemia, Por...	OMIM:616278
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Broad nasal tip, Plagiocephaly, Gastroesophageal reflux, Intestinal malrotation, Prominent nasal ...	ORPHA:457193
Cataract-Intellectual Disability-Hypogonadism Syndrome	Depressed nasal bridge, Furrowed tongue, Hypogonadotropic hypogonadism, Brachycephaly, Short stat...	ORPHA:1387
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hepatic steatosis, Ventricular septal defect, Cirrhosis, Primary amenorrhea, Hepatomegaly, High p...	OMIM:619418
Edinburgh Malformation Syndrome	Choanal atresia, Failure to thrive, Anteverted nares, Frontal bossing, Short nose	ORPHA:1895
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Cystathioninemia, Failure to thrive, Elevated circulating propionylcarnitine concentration, Pancy...	OMIM:277380
2Q32Q33 Microdeletion Syndrome	Anteverted nares, Prominent nasal bridge, Brachycephaly, Convex nasal ridge, Short stature, High ...	ORPHA:251019
Cooper-Jabs Syndrome	Anteriorly placed anus, Anteverted nares, Ventricular septal defect, Brachycephaly, Short stature...	ORPHA:1488
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Wide nasal bridge, Depressed nasal bridge, Bifid uvula, Abnormal heart morphology, Intestinal mal...	ORPHA:404440
Systemic-Onset Juvenile Idiopathic Arthritis	Pleural effusion, Splenomegaly, Joint swelling, Lymphadenopathy, Elevated circulating C-reactive ...	ORPHA:85414
Kleefstra Syndrome	Gastroesophageal reflux, Tetralogy of Fallot, Obesity, Anteverted nares, Ventricular septal defec...	ORPHA:261494
Pediatric-Onset Graves Disease	Sinus tachycardia, Failure to thrive, Congestive heart failure, Intrauterine growth retardation, ...	ORPHA:525731
Carey-Fineman-Ziter Syndrome 1	Depressed nasal bridge, Broad nasal tip, Plagiocephaly, Failure to thrive, Gastroesophageal reflu...	OMIM:254940
Familial Idiopathic Dilatation Of The Right Atrium	Atrioventricular block, Abnormality of the hepatic vasculature, Complete heart block with narrow ...	ORPHA:1677
Kagami-Ogata Syndrome	Depressed nasal bridge, Anteverted nares, Polyhydramnios, Splenomegaly, Ventricular septal defect...	OMIM:608149
Microphthalmia With Limb Anomalies	Anophthalmia, Microphthalmia	OMIM:206920
Sepsis In Premature Infants	Hypotension, Functional abnormality of the gastrointestinal tract, Leukocytosis, Splenomegaly, De...	ORPHA:90051
Frontonasal Dysplasia 2	Wide nasal bridge, Depressed nasal ridge, Bifid nasal tip, Depressed nasal bridge, Broad columell...	OMIM:613451
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Ascites, Gastrointestinal infarctions, Portal hypertension, Splenome...	ORPHA:131
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ...	OMIM:619802
Miller-Dieker Lissencephaly Syndrome	Wide nasal bridge, Failure to thrive, Abnormal heart morphology, Intrauterine growth retardation,...	OMIM:247200
Sweeney-Cox Syndrome	Wide nasal bridge, Choanal atresia, Broad nasal tip, Gastroesophageal reflux, Velopharyngeal insu...	OMIM:617746
Tetrasomy 18P	Syncope, Achalasia, Short nose	ORPHA:3307
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Anal fissure, Lymphopenia, Hepatospleno...	OMIM:618935
Wilson Disease	Hepatitis, Failure to thrive, Abnormality of the menstrual cycle, Acute hepatitis, Hepatic steato...	ORPHA:905
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Hurler Syndrome	Aortic regurgitation, Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Cardiomyopathy,...	OMIM:607014
Alagille Syndrome	Failure to thrive, Frontal bossing, Cholestasis, Intrauterine growth retardation, Reduced number ...	ORPHA:52
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Plagiocephaly, Gastroesophageal reflux, Failure to thrive, Hypertrophic cardiomyopathy, Hyperammo...	OMIM:615471
Combined Oxidative Phosphorylation Deficiency 33	Cardiomyopathy, Intrauterine growth retardation, Oligohydramnios, Elevated circulating creatine k...	OMIM:617713
Stickler Syndrome Type 1	Cleft palate, Mitral valve prolapse, Short nose	ORPHA:90653
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short stature, Cachexia, Short nose	ORPHA:1389
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Nabais Sa-De Vries Syndrome, Type 1	Depressed nasal bridge, Bulbous nose, Prominent nasal bridge, Brachycephaly, Prolonged neonatal j...	OMIM:618828
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Protein-losing enteropathy, Broad nasal tip, Ascites, Postnatal growth retardation, Hepatosplenom...	ORPHA:1655
Glycogen Storage Disease Ii	Sinus tachycardia, Pleural effusion, Splenomegaly, Shortened PR interval, Cardiomegaly, Subarachn...	OMIM:232300
Aminopterin Syndrome Sine Aminopterin	Intrauterine growth retardation, Decreased body weight, Brachycephaly, Short stature, High palate...	OMIM:600325
Cinca Syndrome	Frontal bossing, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Elevated circulating ...	ORPHA:1451
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Plagiocephaly, Abnormal heart morphology, Anteverted nares, Prominent nasal bridge, Patent forame...	ORPHA:500159
Kleefstra Syndrome Due To A Point Mutation	Plagiocephaly, Gastroesophageal reflux, Failure to thrive, Abnormal heart morphology, Large for g...	ORPHA:261652
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Underdeveloped nasal alae, Intrauterine growth retardation, Prominent nasal bridge, Thickened nuc...	ORPHA:2083
Fraser Syndrome 3	Ascites, Oligohydramnios, Nonimmune hydrops fetalis, Sonographic non-visualized fetal bladder, Co...	OMIM:617667
Fabry Disease	Congestive heart failure, Lymphedema, Transient ischemic attack, Angina pectoris, Arrhythmia, Lef...	OMIM:301500
Lig4 Syndrome	Wide nasal bridge, Acute leukemia, Pancytopenia, Leukocytosis, Brachycephaly, Telangiectasia of t...	ORPHA:99812
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Plagiocephaly, Increased nuchal translucency, Polyhydramnios, Brachycephaly, Short stature, High ...	OMIM:618862
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Generalized edema, Hemophagocytosis, Failure to thrive, Increased circulating fe...	OMIM:603553
Hyperparathyroidism, Transient Neonatal	Splenic cyst, Unilateral renal agenesis, Enlarged kidney	OMIM:618188
Mucolipidosis Ii Alpha/Beta	Increased serum beta-hexosaminidase, Splenomegaly, Cardiomegaly, Mucopolysacchariduria, Hepatomeg...	OMIM:252500
Jacobsen Syndrome	Aortic valve stenosis, Ventricular septal defect, Duodenal atresia, Short nose, Hypoplastic left ...	ORPHA:2308
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Intrauterine growth retardation, Anteverted nares, Decreased body weight, Proportionate short sta...	ORPHA:391408
Acrodysostosis 2 With Or Without Hormone Resistance	Depressed nasal bridge, Intrauterine growth retardation, Obesity, Anteverted nares, Mild short st...	OMIM:614613
Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	ORPHA:2717
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Depressed nasal bridge, Anteverted nares, Anterior plagiocephaly, Brachycephaly, Cleft palate, Hi...	ORPHA:163649
Harderoporphyria	Increased fecal harderoporphyrin, Neonatal hyperbilirubinemia, Increased circulating ferritin con...	OMIM:618892
Cholestasis-Lymphedema Syndrome	Lymphedema, Neonatal cholestatic liver disease, Splenomegaly, Hyperlipidemia, Cirrhosis, Hepatome...	OMIM:214900
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Loeys-Dietz Syndrome 5	Bifid uvula, Failure to thrive in infancy, Tall stature, Overhanging nasal tip, Prominent nasal b...	OMIM:615582
Tetrasomy 5P	Wide nasal bridge, Failure to thrive, Congestive heart failure, Postnatal growth retardation, Ant...	ORPHA:3309
Felty Syndrome	Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Recurrent pharyngitis,...	ORPHA:47612
Agammaglobulinemia 8B, Autosomal Recessive	Depressed nasal bridge, B Acute Lymphoblastic Leukemia, Failure to thrive, Pancytopenia, Splenome...	OMIM:619824
Au-Kline Syndrome	Breech presentation, High palate, Short nose, Plagiocephaly, Gastroesophageal reflux, Wide nasal ...	OMIM:616580
Lujan-Fryns Syndrome	Prominent nasal bridge, Brachycephaly, Atrial septal defect, High palate, Disproportionate tall s...	ORPHA:776
Faciocardiorenal Syndrome	Wide nasal bridge, Plagiocephaly, Failure to thrive, Underdeveloped nasal alae, Endocardial fibro...	ORPHA:1973
Congenital Disorder Of Glycosylation, Type Iu	High palate, Short nose, Elevated circulating creatine kinase concentration	OMIM:615042
Severe X-Linked Intellectual Disability, Gustavson Type	Recurrent upper respiratory tract infections, Ventricular septal defect, Severe postnatal growth ...	ORPHA:3078
Carpenter Syndrome 1	Lambdoidal craniosynostosis, Depressed nasal bridge, Coronal craniosynostosis, Polysplenia, Tetra...	OMIM:201000
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Thickened calvaria, Craniosynostosis, Brachycephaly	ORPHA:178377
Fibular Hemimelia	Renal dysplasia, Anophthalmia, Thrombocytopenia	ORPHA:93323
Sporadic Fetal Brain Disruption Sequence	Plagiocephaly, Aplasia/Hypoplasia of the thymus, Prominent occiput	ORPHA:1665
Combined Oxidative Phosphorylation Deficiency 25	Wide nasal bridge, Depressed nasal bridge, Failure to thrive, Anteverted nares, Intraventricular ...	OMIM:616430
Mycophenolate Mofetil Embryopathy	Bifid nose, Tracheoesophageal fistula, Hydrops fetalis, Ventricular septal defect	ORPHA:268249
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Depressed nasal ridge, Rhizomelia, Intrauterine growth retardation, Short stature, Frontal bossin...	OMIM:300863
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Depressed nasal ridge, Aplasia/Hypoplasia involving the nose, Short nose	ORPHA:1529
Immunodeficiency 32B	Hypoalbuminemia, Failure to thrive, Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinop...	OMIM:226990
Odontochondrodysplasia	Short stature, Depressed nasal bridge, Frontal bossing, Short nose	ORPHA:166272
Smith-Kingsmore Syndrome	Depressed nasal bridge, Rhizomelia, Large for gestational age, Thrombocytopenia, Frontal bossing,...	OMIM:616638
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Hypertrophic cardiomyopathy, Delayed puberty, Short nose	ORPHA:496790
Alkuraya-Kucinskas Syndrome	Depressed nasal bridge, Plagiocephaly, Edema, Anteverted nares, Pleural effusion, Pericardial eff...	OMIM:617822
Pierpont Syndrome	Brachycephaly, Small for gestational age, Wide nasal ridge	ORPHA:487825
Acrodysostosis	Wide nasal bridge, Depressed nasal ridge, Depressed nasal bridge, Irregular menstruation, Hypogon...	ORPHA:950
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Short stature, Brachycephaly, Gastroesophageal reflux	OMIM:615031
Khan-Khan-Katsanis Syndrome	Failure to thrive, Tricuspid regurgitation, Lymphopenia, Intrauterine growth retardation, Patent ...	OMIM:618460
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Wide nasal bridge, Frontal bossing, Intrauterine growth retardation, Prominent nose, Abnormal mit...	ORPHA:1292
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Fetal distress, Ascites, Failure to thrive in infancy, Transient ischemi...	ORPHA:51608
Monosomy 18P	Wide nasal bridge, Lymphedema, Brachycephaly, Short stature, Hypertension, Cleft palate	ORPHA:1598
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Meckel diverticulum, Thick nasal alae, Dysphagia, Frontal bossing, Short nose	ORPHA:163961
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Postnatal growth retardation, Brachycephaly	OMIM:309545
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Anteverted nares, Atrial septal defect, Short nose	OMIM:619356
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Depressed nasal bridge, Brachycephaly, Failure to thrive, Elevated circulating creatine kinase co...	OMIM:620240
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Depressed nasal bridge, Bulbous nose, Anteverted nares, High palate, Frontal bossing, Short nose,...	OMIM:614105
Mcleod Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Acanthocytosis, Splenomegaly, Reduced haptoglobin level, ...	OMIM:300842
Chromosome 13Q33-Q34 Deletion Syndrome	Wide nasal bridge, Choanal atresia, Anteriorly placed anus, Trigonocephaly, Left ventricular hype...	OMIM:619148
Vitamin K Antagonist Embryofetopathy	Depressed nasal bridge, Choanal atresia, Intrauterine growth retardation, Anteverted nares, Macro...	ORPHA:1914
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Micropenis, Polycystic kidney dysplasia, Enlarged kidney, Renal dysplasia	OMIM:613091
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Wide nasal bridge, Plagiocephaly, Enlarged naris, Intrauterine growth retardation, Anteverted nar...	ORPHA:371364
Wiskott-Aldrich Syndrome	Nephropathy, Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lympho...	OMIM:301000
Cartilage-Hair Hypoplasia	Wide nasal bridge, Depressed nasal ridge, Rhizomelia, Depressed nasal bridge, Disproportionate sh...	ORPHA:175
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Failure to thrive, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Decreased ...	OMIM:618495
Beckwith-Wiedemann Syndrome	Nephropathy, Visceromegaly, Polycythemia, Vesicoureteral reflux, Splenomegaly, Nephroblastoma, Ne...	ORPHA:116
Osteopathia Striata-Cranial Sclerosis Syndrome	Aortic valve stenosis, Severe short stature, Wide nasal bridge, High, narrow palate, Bifid uvula,...	ORPHA:2780
Geleophysic Dysplasia 2	Aortic valve stenosis, Mitral regurgitation, Mitral stenosis, Mitral valve prolapse, Hepatomegaly...	OMIM:614185
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Depressed nasal bridge, Hamartoma of tongue, Atrial septal defect, Polyhydramnios, Hydrops fetali...	OMIM:616546
Congenital Disorder Of Glycosylation, Type It	Aborted sudden cardiac death, Intrahepatic cholestasis, Dilated cardiomyopathy, Growth delay, Hep...	OMIM:614921
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Wide nasal bridge, Plagiocephaly, Short columella, Turricephaly, Aganglionic megacolon, Intravent...	OMIM:613603
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Wide nasal bridge, Broad nasal tip, Cleft palate, Growth delay, Short nose	OMIM:615716
Contractural Arachnodactyly, Congenital	Scaphocephaly, Mitral regurgitation, Increased upper to lower segment ratio, Ventricular septal d...	OMIM:121050
Lymphoid Interstitial Pneumonia	Hepatomegaly, Enlarged kidney	ORPHA:79128
Chopra-Amiel-Gordon Syndrome	Flared nostrils, Thick nasal alae, Postnatal growth retardation, Brachycephaly, Short stature, Cl...	OMIM:619504
Chops Syndrome	High, narrow palate, Gastroesophageal reflux, Obesity, Anteverted nares, Splenomegaly, Patent for...	OMIM:616368
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, High palate, Plagiocephal...	ORPHA:453499
Mucopolysaccharidosis, Type Iiic	Recurrent upper respiratory tract infections, Splenomegaly, Dolichocephaly, Hepatomegaly, Asymmet...	OMIM:252930
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Pulmonary arterial hyp...	OMIM:616028
Non-Syndromic Bicoronal Craniosynostosis	Brachycephaly	ORPHA:35099
Mucolipidosis Type Ii	Abnormal atrioventricular valve physiology, Aortic regurgitation, Depressed nasal bridge, Cardiom...	ORPHA:576
Methylmalonic Aciduria, Cblb Type	Dilated cardiomyopathy, Failure to thrive, Elevated circulating propionylcarnitine concentration,...	OMIM:251110
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Polyhydramnios, Obesity, Plagiocephaly	ORPHA:521390
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Broad nasal tip, Failure to thrive, Subretinal pigment epithelium hemorrhage, Postnatal growth re...	ORPHA:357074
Systemic Mastocytosis With Associated Hematologic Neoplasm	Chronic lymphatic leukemia, Acute myeloid leukemia, Weight loss, Neutrophilia, Hepatomegaly, Tach...	ORPHA:98849
Robinow Syndrome, Autosomal Dominant 3	Wide nasal bridge, Depressed nasal bridge, Anteriorly placed anus, Frontal bossing, Tricuspid reg...	OMIM:616894
Marshall-Smith Syndrome	Tall stature, Ventricular septal defect, Decreased body weight, Premature ventricular contraction...	OMIM:602535
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca...	OMIM:601214
Trisomy 18	Choanal atresia, Narrow palate, Intrauterine growth retardation, Oligohydramnios, Prominent occip...	ORPHA:3380
Distal Duplication 5Q	Prominent nasal bridge, Ventricular septal defect, Aplasia/Hypoplasia of the gallbladder, Dextroc...	ORPHA:96097
Fetal Valproate Spectrum Disorder	Depressed nasal ridge, Short nose	ORPHA:1906
Polycythemia Vera	Epistaxis, Gastrointestinal hemorrhage, Acute leukemia, Pulmonary embolism, Polycythemia, Budd-Ch...	ORPHA:729
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Wide nasal bridge, Plagiocephaly, Gastroesophageal reflux, Bulbous nose, Intrauterine growth reta...	OMIM:617360
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Hypoalbuminemia, Decreased circulating iron concentration, Dilated cardiomyopathy, Decreased circ...	ORPHA:89842
Xq28 (MECP2) duplication	Depressed nasal bridge, Gastroesophageal reflux, Failure to thrive, Brachycephaly, Dysphagia	DECIPHER:45
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Recurrent upper respiratory tract infections, Congestive heart failu...	ORPHA:508542
Chromosome 14Q11-Q22 Deletion Syndrome	Wide nasal bridge, Depressed nasal bridge, Plagiocephaly, Gastroesophageal reflux, Failure to thr...	OMIM:613457
Fetal Akinesia Deformation Sequence 1	High, narrow palate, Small placenta, Depressed nasal tip, Intrauterine growth retardation, Increa...	OMIM:208150
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Aortic valve stenosis, Depressed nasal bridge, Chylothorax, Juvenile myelomonocytic leukemia, Fai...	OMIM:613563
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Hematochezia, Intraalveolar phospholipid accumulation, Hepatitis, Intrauterine growth retardation...	OMIM:620565
Weiss-Kruszka Syndrome	Dextrotransposition of the great arteries, Anteverted nares, Ventricular septal defect, Bicuspid ...	OMIM:618619
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Hematochezia, Edema, Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Ade...	ORPHA:329971
Juvenile Polyposis Syndrome	Colon cancer, Stomach cancer, Juvenile gastrointestinal polyposis, Small intestinal polyposis, Ju...	ORPHA:2929
Cutis Laxa, Autosomal Recessive, Type Iiia	Hypoornithinemia, Failure to thrive, Intrauterine growth retardation, Hypoprolinemia, Hyperammone...	OMIM:219150
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Macroglossia, Failure to thrive, Hypertrophic cardiomyopathy, Shortened PR interval, Cardiomegaly...	ORPHA:308552
Kaufman Oculocerebrofacial Syndrome	Depressed nasal bridge, Failure to thrive, Intestinal malrotation, Hypocholesterolemia, Anteverte...	OMIM:244450
Laurence-Moon Syndrome	Short stature, Brachycephaly, Obesity, Congenital hepatic fibrosis	ORPHA:2377
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Irregular menstruation, Hepatic fibrosis, Postnatal growth retardation, Splenomegaly, Elevated ci...	ORPHA:79240
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Nephroblas...	OMIM:130650
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Failure to thrive, Narrow nasal bridge, Edema of the dorsum of hands, Edema of the dorsum of feet...	ORPHA:544503
Ciliary Dyskinesia, Primary, 53	Polysplenia, Abdominal situs inversus, Ductus venosus agenesis, Situs inversus totalis, Patent fo...	OMIM:620642
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Depressed nasal bridge, Anteverted nares, Short nose, Lobulated tongue	OMIM:613443
Al-Raqad Syndrome	Atrial septal defect, Short nose	OMIM:616459
Arterial Tortuosity Syndrome	Dilated cardiomyopathy, Gastroesophageal reflux, Congestive heart failure, Hypertrophic cardiomyo...	ORPHA:3342
Endocrine-Cerebroosteodysplasia	Hypospadias, Enlarged kidney, Microphallus, Hyperechogenic kidneys	OMIM:612651
Mucopolysaccharidosis Type 1	Depressed nasal bridge, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart val...	ORPHA:579
Hypocalcemic Vitamin D-Dependent Rickets	Hypochromic anemia, Failure to thrive, Cardiomyopathy, Postnatal growth retardation, Leukocytosis...	ORPHA:289157
Familial Partial Lipodystrophy, Dunnigan Type	Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Dysmenorr...	ORPHA:2348
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Hypospadias, Anophthalmia, Microphthalmia	OMIM:615877
Prader-Willi Syndrome Due To Translocation	Bifid uvula, Broad nasal tip, Abnormal heart morphology, Intrauterine growth retardation, Obesity...	ORPHA:177907
Liver Disease, Severe Congenital	Portal inflammation, Dilatation of the ventricular cavity, Hyperbilirubinemia, Hepatic steatosis,...	OMIM:619991
Q Fever	Vasculitis, Hepatitis, Abnormal heart valve morphology, Hepatosplenomegaly, Abnormality of the li...	ORPHA:781
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Wide nasal bridge, Depressed nasal bridge, Bulbous nose, Ventricular septal defect, Atrial septal...	OMIM:617061
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix	OMIM:617068
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Wide nasal bridge, Gastroesophageal reflux, Obesity, Overgrowth, Narrow palate, Frontal bossing, ...	OMIM:620250
Bresek Syndrome	Plagiocephaly, Intrauterine growth retardation, Neonatal death, Aganglionic megacolon, Convex nas...	ORPHA:85284
Intellectual Developmental Disorder, Autosomal Dominant 23	Wide nasal bridge, Depressed nasal bridge, Bulbous nose, Anteverted nares, Brachycephaly	OMIM:615761
Congenital Disorder Of Glycosylation, Type Iiy	Brachycephaly	OMIM:620200
Lathosterolosis	Intrahepatic cholestasis, Failure to thrive, Bulbous nose, Intrauterine growth retardation, Antev...	ORPHA:46059
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Wide nasal bridge, Brachycephaly, Obesity	ORPHA:352530
Trisomy 10P	Depressed nasal bridge, Gastroesophageal reflux, Abnormality of the nose, Frontal bossing, Abnorm...	ORPHA:171929
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Depressed nasal ridge, Plagiocephaly, Anteverted nares, Prominent occiput, Brachycephaly, Dolicho...	OMIM:618672
Arthrogryposis, Distal, Type 2A	Wide nasal bridge, Failure to thrive, Underdeveloped nasal alae, Postnatal growth retardation, Ol...	OMIM:193700
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Underdeveloped nasal alae, Anteverted nares, Congenital hepatic fibrosis, Short stature, Glossopt...	ORPHA:2031
Aarskog-Scott Syndrome	Wide nasal bridge, Failure to thrive, Testicular atrophy, Anteverted nares, Increased upper to lo...	OMIM:305400
Pallister-Hall-Like Syndrome	Depressed nasal bridge, Microglossia, Short nose, Short stature, Cleft palate	OMIM:241800
8P11.2 Deletion Syndrome	Anosmia, Depressed nasal bridge, Growth delay, Hypogonadism, Azoospermia, Splenomegaly, Mitral va...	ORPHA:251066
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Congenital pulmonary airway malformation, Hepatitis, Jejunoileal ulceration, ...	ORPHA:436252
Aicardi-Goutieres Syndrome 7	Pancytopenia, Hepatic steatosis, Weight loss, Hepatomegaly, Atrophic gastritis, Vasculitis, Hyper...	OMIM:615846
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating iron concentration, Increased circulating ferritin concentration, Hypogonad...	ORPHA:300298
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Depressed nasal bridge, Underdeveloped nasal alae, Intrauterine growth retardation, Anteverted na...	OMIM:615866
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Wide nasal bridge, Brachycephaly, Short nose, High palate	OMIM:218000
Fetal Cytomegalovirus Syndrome	Hepatitis, Intrauterine growth retardation, Splenomegaly, Hepatomegaly, Anemia, Thrombocytopenia,...	ORPHA:294
Noonan Syndrome 13	Wide nasal bridge, Plagiocephaly, Gastroesophageal reflux, Lymphedema, Anteverted nares, Mitral r...	OMIM:619087
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Reduced hapto...	OMIM:611881
Chromosome 5P13 Duplication Syndrome	Wide nasal bridge, Bulbous nose, Turricephaly, Brachycephaly, Craniosynostosis, High palate, Low ...	OMIM:613174
Idiopathic Hypereosinophilic Syndrome	Angioedema, Hepatosplenomegaly, Chronic hepatitis, Myocardial eosinophilic infiltration, Neutroph...	ORPHA:3260
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Failure to thrive, Congestive heart failure, Oligohydramnios, ...	OMIM:615512
3P25.3 Microdeletion Syndrome	High, narrow palate, Depressed nasal bridge, Prominent nose, Anteverted nares, Ventricular septal...	ORPHA:435638
Williams-Beuren Region Duplication Syndrome	Broad nasal tip, Failure to thrive, Brachycephaly, Short stature, High palate, Small for gestatio...	OMIM:609757
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Predominantly lower limb lymphedema, Palpebral edema, Palmar telangiectasia, Nonimmune hydrops fe...	OMIM:607823
Desmosterolosis	Rhizomelia, Total anomalous pulmonary venous return, Hypoplastic nasal bridge, Failure to thrive,...	OMIM:602398
Joubert Syndrome 21	Renal cyst, Splenomegaly, Anophthalmia, Hyperechogenic kidneys	OMIM:615636
Hereditary Mixed Polyposis Syndrome	Hematochezia, Colon cancer, Adenomatous colonic polyposis, Duodenal adenocarcinoma, Hyperplastic ...	ORPHA:157794
Legionnaires Disease	Bone marrow hypocellularity, Hypotension, Hepatitis, Lymphopenia, Splenomegaly, Hyponatremia, Arr...	ORPHA:549
20Q11.2 Microduplication Syndrome	Wide nasal bridge, Depressed nasal bridge, Trigonocephaly, Anteverted nares, Brachycephaly, Sever...	ORPHA:363659
Paternal Uniparental Disomy Of Chromosome 5	Rhizomelic arm shortening, Posterior plagiocephaly, Secundum atrial septal defect, Polyhydramnios	ORPHA:96190
Vacterl With Hydrocephalus	Renal hypoplasia/aplasia, Renal agenesis, Anophthalmia, Microphthalmia	ORPHA:3412
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Mediastinal lymphadenopathy, Xerostomia, Gastroesophageal reflux, Le...	ORPHA:809
Aica-Ribosiduria Due To Atic Deficiency	Secundum atrial septal defect, Anteverted nares, Prominent nasal bridge, Hyponatremia, Brachyceph...	OMIM:608688
Meckel Syndrome	Accessory spleen, Multicystic kidney dysplasia, Anophthalmia, Aplasia/Hypoplasia of the iris, Ure...	ORPHA:564
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Choanal atresia, Plagiocephaly, Muscular ventricular septal defect, Submucous cleft hard palate, ...	OMIM:619227
Poems Syndrome	Visceromegaly, Polycythemia, Ascites, Hypogonadism, Pleural effusion, Splenomegaly, Hepatomegaly,...	ORPHA:2905
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Cervical lymphadenopathy, Hepatosplenomegaly, Facial telangiectasia, Antev...	OMIM:602782
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Depressed nasal ridge, Rhizomelia, Intrauterine growth retardation, Short stature, Frontal bossin...	ORPHA:163966
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Congestive heart failure, Fetal distress, Hypophosphatemic rickets, Cardi...	OMIM:208000
Common Variable Immunodeficiency	Vasculitis, Failure to thrive in infancy, Lymphopenia, Abnormality of the liver, Splenomegaly, Br...	ORPHA:1572
Mucopolysaccharidosis Type 6	Recurrent upper respiratory tract infections, Failure to thrive, Abnormal heart valve morphology,...	ORPHA:583
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Bifid ureter, Transient neutropenia, Nephroblastoma, Renal malrotat...	ORPHA:500095
Heterotaxy, Visceral, 1, X-Linked	Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ve...	OMIM:306955
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Depressed nasal bridge, Anal stenosis, Gastroesophageal reflux, Large for gestational age, Anteve...	OMIM:614080
Fetal Hydantoin Syndrome	Depressed nasal ridge, Intrauterine growth retardation, Thickened nuchal skin fold, Short stature...	ORPHA:1912
Grant Syndrome	Short stature, Depressed nasal bridge, Brachycephaly, Frontal bossing	ORPHA:2097
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Depressed nasal bridge, Disproportionate short stature, Decreased proportion of CD8-positive T ce...	ORPHA:508533
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Short stature, Brachycephaly	ORPHA:320385
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Microphthalmia, Micropenis, Hypospadias, Optic nerve hypoplasia	OMIM:206900
Holoprosencephaly	Abnormality of the urinary system, Abnormality of the spleen, Anophthalmia, Proteinuria, Hyponatr...	ORPHA:2162
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL cholesterol concentration, Hep...	ORPHA:247598
Peho Syndrome	Edema of the dorsum of feet, Edema of the dorsum of hands, Edema, Short nose	OMIM:260565
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Brachycephaly, Anteverted nares	OMIM:618859
Jacobsen Syndrome	Depressed nasal bridge, Pyloric stenosis, Annular pancreas, Failure to thrive, Trigonocephaly, In...	OMIM:147791
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Cholecystit...	OMIM:235700
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Depressed nasal bridge, Plagiocephaly, Gastroesophageal reflux, Bulbous nose, Anteverted nares, P...	OMIM:610759
Chromosome 3Q29 Duplication Syndrome	Wide nasal bridge, Bulbous nose, Obesity, Short nose	OMIM:611936
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Depressed nasal bridge, Gastroesophageal reflux, HbH hemoglobin, Postnatal growth retardation, An...	OMIM:301040
Stevenson-Carey Syndrome	Gastroesophageal reflux, Underdeveloped nasal alae, Anteverted nares, Brachycephaly, Prominent na...	OMIM:611961
Drug-Induced Autoimmune Hemolytic Anemia	Increased total bilirubin, Congestive heart failure, Splenomegaly, Autoimmune hemolytic anemia, T...	ORPHA:90037
Okamoto Syndrome	Aortic valve stenosis, Wide nasal bridge, Depressed nasal bridge, Gastroesophageal reflux, Exagge...	ORPHA:2729
Congenital Disorder Of Glycosylation, Type Iq	Depressed nasal bridge, Failure to thrive, Microcytic anemia, Brachycephaly, Dysphagia	OMIM:612379
Pontocerebellar Hypoplasia, Type 2E	Failure to thrive, Facial telangiectasia, Short stature, Short nose, Wide nose	OMIM:615851
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Pulmonary embolism, Hyperbilirubinemia, Spleno...	OMIM:185000
Yunis-Varon Syndrome	Ventricular septal defect, Severe failure to thrive, High palate, Flat occiput, Tetralogy of Fall...	OMIM:216340
Fontaine Progeroid Syndrome	Protruding tongue, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Short nose, High,...	OMIM:612289
Marshall Syndrome	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Thickened calvaria, Brachycephaly, C...	ORPHA:560
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Wide nasal bridge, Broad nasal tip, Plagiocephaly, Postnatal growth retardation, Prominent nasal ...	OMIM:300749
Kury-Isidor Syndrome	Frontal bossing, Anteverted nares, Ventricular septal defect, Brachycephaly, High palate, Growth ...	OMIM:619762
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Abnormal B cell morphology, Depressed nasal bridge, Broad nasal tip, Depressed nasal tip, Aplasia...	OMIM:618223
Facial Paresis, Hereditary Congenital, 3	Depressed nasal bridge, Anteverted nares, High palate, Dysphagia, Short nose	OMIM:614744
Manitoba Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	OMIM:248450
Hyperphosphatasia-Intellectual Disability Syndrome	Wide nasal bridge, Bifid uvula, Plagiocephaly, Anteriorly placed anus, Bulbous nose, Prominent na...	ORPHA:247262
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures	Plagiocephaly, Frontal bossing, Fetal distress	OMIM:619264
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Depressed nasal bridge, Volvulus, Breech presentation, Dysphagia, Short nose, Premature birth	OMIM:617802
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Cardiac diverticulum, Pancreatic adenocarcinoma, Neoplasm of the col...	ORPHA:440437
Houge-Janssens Syndrome 3	Plagiocephaly, Broad nasal tip, Muscular ventricular septal defect, Atrial septal defect, High pa...	OMIM:618354
Omenn Syndrome	Failure to thrive, Desquamation of skin soon after birth, Abnormal lymphocyte morphology, Leukocy...	ORPHA:39041
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose	ORPHA:833
Chromosome 6Pter-P24 Deletion Syndrome	Depressed nasal bridge, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Tel...	OMIM:612582
Teebi Hypertelorism Syndrome 2	Depressed nasal bridge, Broad nasal tip, Short nose, High palate, Cleft palate	OMIM:619736
Helsmoortel-Van Der Aa Syndrome	Posterior plagiocephaly, Ankyloglossia, Mitral regurgitation, Mitral valve prolapse, Atrial septa...	OMIM:615873
Raine Syndrome	Choanal atresia, Depressed nasal bridge, Plagiocephaly, Brachyturricephaly, Protruding tongue, Ne...	OMIM:259775
Waldenström Macroglobulinemia	Normocytic anemia, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Periorbital edema, Leukemi...	ORPHA:33226
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Depressed nasal bridge, Cardiomyopathy, Anteriorly placed anus, Anteverted nares, Abnormal cardia...	OMIM:217980
Autosomal Dominant Omodysplasia	Depressed nasal bridge, Rhizomelia, Frontal bossing, Short nose	ORPHA:93328
Absent Eyebrows And Eyelashes With Impaired Intellectual Development	Convex nasal ridge, Short nose	OMIM:200130
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Neoplasm of the colon, Abnormality of the liver, Intestinal obstruct...	ORPHA:44890
Antley-Bixler Syndrome	Choanal atresia, Anteverted nares, Turricephaly, Brachycephaly, Cleft palate, Craniosynostosis, F...	ORPHA:83
Muenke Syndrome	Coronal craniosynostosis, Plagiocephaly, Brachycephaly, Short stature, High palate, Cloverleaf skull	OMIM:602849
3Q29 Microdeletion Syndrome	Gastroesophageal reflux, Failure to thrive, Prominent nasal bridge, Pulmonary arterial hypertensi...	ORPHA:65286
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Obesity, Anteverted nares, Short nose	OMIM:619854
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Recurrent upper respiratory tract infections, Inflammation of the large intes...	ORPHA:436159
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Reduced left ventricular ejection fraction, Elevated circulating creatine kinase co...	ORPHA:268
Spondyloepiphyseal Dysplasia, Nishimura Type	Hyperphosphatemia, Disproportionate short-limb short stature, Hypocalcemia, Short nose	OMIM:618618
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Bifid uvula, Plagiocephaly, Tall stature, Obesity, Short stature, Cleft palate	OMIM:618089
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Hypereosinophilia, Splenomegaly, Corneal neovascularization, Autoimmune hemoly...	OMIM:617388
Martsolf Syndrome 1	Depressed nasal bridge, Broad nasal tip, Cardiomyopathy, Congestive heart failure, Hypogonadotrop...	OMIM:212720
Primary Triglyceride Deposit Cardiomyovasculopathy	Cardiomyopathy, Coronary artery stenosis, Abnormal cardiomyocyte morphology, Palpitations, Hyperl...	ORPHA:565612
Deeah Syndrome	Narrow palate, Exocrine pancreatic insufficiency, Intrauterine growth retardation, Decreased hear...	OMIM:619004
Rhizomelic Dysplasia, Patterson-Lowry Type	Depressed nasal ridge, Rhizomelia, Short nose, Wide nose	ORPHA:2831
Toriello-Carey Syndrome	Cardiomyopathy, Anteriorly placed anus, Tetralogy of Fallot, Postnatal growth retardation, Intrau...	ORPHA:3338
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Hematochezia, Intrahepatic cholestasis, Hepatitis, Failure to thrive, ...	OMIM:613812
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Giant cell hepatitis, Failure to thrive, Hypocholesterolemia, Splenomeg...	OMIM:607765
Fish-Eye Disease	Splenomegaly, Angina pectoris, Lymphadenopathy, Decreased HDL cholesterol concentration, Hepatome...	ORPHA:79292
19P13.13 Microdeletion Syndrome	Depressed nasal bridge, Macroglossia, Functional abnormality of the gastrointestinal tract, Antev...	ORPHA:357001
Ring Chromosome 7 Syndrome	Wide nasal bridge, Bifid uvula, Plagiocephaly, Narrow naris, Hypogonadism, Anteverted nares, Prom...	ORPHA:1449
2P15P16.1 Microdeletion Syndrome	Aortic regurgitation, Wide nasal bridge, Failure to thrive, Hypogonadism, Tall stature, Intrauter...	ORPHA:261349
Osteopetrosis, Autosomal Recessive 5	Stillbirth, Extramedullary hematopoiesis, Cranial hyperostosis, Ascites, Hepatosplenomegaly, Panc...	OMIM:259720
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Severe short stature, Brachycephaly, Narrow nasal bridge, Flat occiput	ORPHA:2511
Zttk Syndrome	Aortic regurgitation, Wide nasal bridge, Depressed nasal bridge, Bifid uvula, Failure to thrive, ...	OMIM:617140
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Failure to thrive, Fetal polyuria, Hypokalemia, Hyponatremia, Polyhydramnios, H...	OMIM:602522
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Inflammation of the large intestine, Failure to thrive, Pancytopenia, Villous...	OMIM:614700
Intellectual Developmental Disorder, Autosomal Dominant 74	Brachycephaly, Intrauterine growth retardation, Prominent nose	OMIM:620688
Intellectual Developmental Disorder, Autosomal Dominant 1	Depressed nasal ridge, Gastroesophageal reflux, Postnatal growth retardation, Bulbous nose, Promi...	OMIM:156200
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Hyperbilirubinemia, Cleft so...	OMIM:301068
Brachytelephalangic Chondrodysplasia Punctata	Depressed nasal ridge, Broad nasal tip, Gastroesophageal reflux, Nasal congestion, Thick nasal al...	ORPHA:79345
Crouzon Syndrome	Choanal atresia, Multiple suture craniosynostosis, Turricephaly, Brachycephaly, Convex nasal ridg...	ORPHA:207
Pfeiffer Syndrome	Depressed nasal bridge, Choanal atresia, Coronal craniosynostosis, Brachyturricephaly, Choanal st...	OMIM:101600
Desbuquois Dysplasia 1	Severe short stature, Depressed nasal bridge, Disproportionate short-limb short stature, Intraute...	OMIM:251450
Hepatoerythropoietic Porphyria	Erythroid hyperplasia, Abnormal circulating porphyrin concentration, Splenomegaly, Nonimmune hydr...	ORPHA:95159
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Wide nasal bridge, Postnatal growth retardation, Large for gestational age, Anteverted nares, Pol...	OMIM:213980
Kleefstra Syndrome 2	Bifid uvula, Plagiocephaly, Growth delay	OMIM:617768
Cartilage-Hair Hypoplasia	Neonatal short-limb short stature, Absent pubertal growth spurt, Anal stenosis, Lymphopenia, Macr...	OMIM:250250
Spinocerebellar Ataxia-Dysmorphism Syndrome	Short stature, Dolichocephaly, Anteverted nares, Short nose	ORPHA:1185
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Anal stenosis, Gastroesophageal reflux, Rectovestibular fistula, Anteverted nares, Increased nuch...	ORPHA:280633
Down Syndrome	Protruding tongue, Acute megakaryocytic leukemia, Ventricular septal defect, Atrial septal defect...	OMIM:190685
Alg12-Cdg	Hypoalbuminemia, Posterior plagiocephaly, Gastroesophageal reflux, Failure to thrive, Premature b...	ORPHA:79324
Weill-Marchesani Syndrome 1	Aortic valve stenosis, Depressed nasal bridge, Mitral regurgitation, Proportionate short stature,...	OMIM:277600
Immunodeficiency 40	Focal active colitis, Rectal fistula, Thrombocytopenia, Hepatomegaly, Macrovesicular hepatic stea...	OMIM:616433
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Wide nasal bridge, Depressed nasal bridge, Gastroesophageal reflux, Anteverted nares, Prominent n...	OMIM:300260
Biliary, Renal, Neurologic, And Skeletal Syndrome	Unbalanced atrioventricular canal defect, Cholestasis, Hyperbilirubinemia, Congenital hepatic fib...	OMIM:619534
Menkes Disease	Decreased circulating ceruloplasmin concentration, Intrauterine growth retardation, Brachycephaly...	OMIM:309400
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Micronodular cirrh...	OMIM:251880
Trichothiodystrophy 4, Nonphotosensitive	Anteverted nares, Decreased fertility, Ventricular septal defect, Growth delay, Short nose	OMIM:234050
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Aortic valve calcification, Bacterial endocarditis, Cholelithiasis, Hepatic fibrosis, Abnormality...	ORPHA:2072
Tafro Syndrome	Anasarca, Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Pleural effusion, Hepatomegaly...	ORPHA:457077
Opsismodysplasia	Depressed nasal bridge, Rhizomelia, Disproportionate short-limb short stature, Edema, Anteverted ...	OMIM:258480
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Renal hypoplasia, Anophthalmia	ORPHA:264200
16P13.11 Microdeletion Syndrome	Depressed nasal bridge, Gastroesophageal reflux, Anteverted nares, Ventricular septal defect, Atr...	ORPHA:261236
Developmental Delay With Or Without Dysmorphic Facies And Autism	Wide nasal bridge, Depressed nasal bridge, Bulbous nose, Narrow nose, Anteverted nares, Prominent...	OMIM:618454
Absence Of The Pulmonary Artery	Atrial flutter, Congestive heart failure, Abnormal EKG, Reduced left ventricular ejection fractio...	ORPHA:980
Musculocontractural Ehlers-Danlos Syndrome	Malrotation of small bowel, Abnormal heart morphology, Abnormal heart valve morphology, Abnormal ...	ORPHA:2953
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Spider hemangioma, Inflammation of the large intestine, Viral hepati...	ORPHA:2137
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Anophthalmia, Microphthalmia	ORPHA:2250
Leukodystrophy, Hypomyelinating, 10	Bulbous nose, Anteverted nares, Failure to thrive, Short nose	OMIM:616420
Hemimegalencephaly	Cranial asymmetry	ORPHA:99802
Ohdo Syndrome	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Short stature, Short nose	OMIM:249620
49,Xxxxy Syndrome	Depressed nasal ridge, Depressed nasal bridge, Gastroesophageal reflux, Pulmonary embolism, Hypog...	ORPHA:96264
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Splenomegaly, Hepatomegaly, Vasculitis in the skin,...	OMIM:620296
Intellectual Developmental Disorder, X-Linked 1	Brachycephaly	OMIM:309530
Foxg1 Syndrome Due To 14Q12 Microdeletion	Depressed nasal bridge, Macroglossia, Gastroesophageal reflux, Bulbous nose, Palpebral edema, Gro...	ORPHA:261144
Osteopetrosis With Renal Tubular Acidosis	Bone marrow hypocellularity, Plagiocephaly, Failure to thrive, Pancytopenia, Leukopenia, Oligohyd...	ORPHA:2785
Immunodeficiency 22	Recurrent upper respiratory tract infections, Failure to thrive, Ascites, Decreased proportion of...	OMIM:615758
Hamamy Syndrome	Wide nasal bridge, Hypochromic anemia, Microcytic anemia, Anteverted nares, Prolonged QRS complex...	OMIM:611174
Shwachman-Diamond Syndrome	Aplastic anemia, Pancytopenia, Increased serum bile acid concentration, Impaired neutrophil chemo...	ORPHA:811
Cerebellar Ataxia-Hypogonadism Syndrome	Hypogonadism, Decreased fertility, Hypogonadotropic hypogonadism, Brachycephaly, Short stature	ORPHA:1173
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Obesity, Plagiocephaly	OMIM:618725
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Short stature, Depressed nasal bridge, Short nose	ORPHA:2835
Crouzon Syndrome With Acanthosis Nigricans	Choanal atresia, Brachycephaly, Craniosynostosis	OMIM:612247
Robinow Syndrome	Flared nostrils, Depressed nasal bridge, Broad nasal tip, Abnormal heart morphology, Ankyloglossi...	ORPHA:97360
Ritscher-Schinzel Syndrome 4	Wide nasal bridge, Narrow palate, Plagiocephaly, Decreased fetal movement, Mild fetal ventriculom...	OMIM:619435
Noonan Syndrome 8	Failure to thrive, Hypertrophic cardiomyopathy, Large for gestational age, Pleural effusion, Mitr...	OMIM:615355
Meier-Gorlin Syndrome 6	Severe short stature, Depressed nasal ridge, Depressed nasal bridge, Gastroesophageal reflux, Fai...	OMIM:616835
Dihydropyrimidinase Deficiency	Plagiocephaly, Failure to thrive, Elevated circulating thymine concentration, Elevated circulatin...	OMIM:222748
Trichohepatoneurodevelopmental Syndrome	Cholelithiasis, Plagiocephaly, Gastroesophageal reflux, Steatorrhea, Exocrine pancreatic insuffic...	OMIM:618268
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Neutrophilia, Hepatomegaly, Tachycardia, Jaundice, Diffuse alveolar hemorrhage, Bun...	ORPHA:99827
Meacham Syndrome	Horseshoe kidney, Enlarged kidney, Accessory spleen	OMIM:608978
48,Xxxy Syndrome	Depressed nasal ridge, Gastroesophageal reflux, Pulmonary embolism, Hypogonadism, Tall stature, O...	ORPHA:96263
Melanocytic Nevus Syndrome, Congenital	Narrow nasal ridge, Anteverted nares, Broad nasal tip, Short nose	OMIM:137550
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Choanal atresia, Underdeveloped nasal alae, Overhanging nasal tip, Hyperbilirubinemia, Absent gal...	ORPHA:163979
Pterygium Colli, Isolated	Short nose	OMIM:177990
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Facial edema, Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splen...	OMIM:618398
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Flat occiput, Postnatal growth retardation, Prominent nasal bridge, Ventricular septal defect, Cl...	ORPHA:251028
Non-Distal Duplication 13Q	Trigonocephaly, High palate, Short nose	ORPHA:1702
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Recurrent upper respiratory tract infections, Failure to thrive, Cerebral vasculiti...	OMIM:613179
Mandibuloacral Dysplasia Progeroid Syndrome	Depressed nasal bridge, Underdeveloped nasal alae, Tricuspid regurgitation, Postnatal growth reta...	OMIM:619127
Multiple Pterygium Syndrome, Escobar Variant	Decreased fetal movement, Short stature, High palate, Hydrops fetalis, Cleft palate	OMIM:265000
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Premature rupture of membranes, Depressed nasal bridge, Skull asymmetry, Short stature, Craniosyn...	OMIM:616723
Trisomy 8P	Depressed nasal bridge, Recurrent upper respiratory tract infections, Bifid uvula, Annular pancre...	ORPHA:264450
Cutis Laxa, Autosomal Recessive, Type Iia	Failure to thrive, Intrauterine growth retardation, Anteverted nares, High palate, Frontal bossin...	OMIM:219200
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit...	OMIM:620066
Mucopolysaccharidosis, Type Vi	Depressed nasal bridge, Recurrent upper respiratory tract infections, Macroglossia, Sinus tachyca...	OMIM:253200
Marshall-Smith Syndrome	Choanal atresia, Failure to thrive, Anteverted nares, Protruding tongue, Craniosynostosis, Short ...	ORPHA:561
Wieacker-Wolff Syndrome, Female-Restricted	Anteverted nares, Polyhydramnios, Fetal akinesia sequence, Brachycephaly, Short stature, Dysphagi...	OMIM:301041
Carey-Fineman-Ziter Syndrome	Hypertensive crisis, Aplasia/Hypoplasia of the tongue, Anteverted nares, Cleft palate, Short stat...	ORPHA:1358
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Depressed nasal bridge, Abnormal heart morphology, Anteverted nares, High palate, Short nose	ORPHA:314655
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic valve stenosis, Aortic regurgitation, Broad nasal tip, Gastroesophageal reflux, Underdevel...	ORPHA:268261
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal umbilical cord blood vessel morphology, Decreased fertility, Oligozoospermia, Primary am...	ORPHA:95699
Congenital Disorder Of Glycosylation, Type Iit	Hypotriglyceridemia, Prominent nasal bridge, Decreased serum creatinine, Brachycephaly, Iron defi...	OMIM:618885
Craniosynostosis 6	Plagiocephaly, Parietal foramina, Right unilambdoid synostosis, Bicoronal synostosis, Turricephal...	OMIM:616602
Gaisböck Syndrome	Increased red blood cell count, Peptic ulcer, Increased mean corpuscular hemoglobin concentration...	ORPHA:90041
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Recurrent upper respiratory tract infections, Lymphopenia, Lymphocytic infilt...	OMIM:616100
Cerebrofaciothoracic Dysplasia	Polyhydramnios, Brachycephaly, Short stature, Cleft palate, Short nose, Wide nose	ORPHA:1394
Intellectual Developmental Disorder, X-Linked 98	Depressed nasal bridge, Gastroesophageal reflux, Failure to thrive, Underdeveloped nasal alae, Po...	OMIM:300912
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Depressed nasal bridge, Plagiocephaly, Gastroesophageal reflux, Underdeveloped nasal alae, Anteve...	OMIM:619720
Desanto-Shinawi Syndrome	Depressed nasal bridge, Bulbous nose, Brachycephaly	OMIM:616708
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Vasculitis, Bone marrow hypocellularity, Dilated cardiomyopathy, Lymphopenia, Pancytopenia, Hepat...	OMIM:615688
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Depressed nasal bridge, Mitral regurgitation, Patent foramen ovale, Disproportionate short-trunk ...	ORPHA:457395
Hallermann-Streiff Syndrome	High, narrow palate, Narrow palate, Underdeveloped nasal alae, Frontal bossing, Narrow nose, Thin...	OMIM:234100
X-Linked Intellectual Disability, Cantagrel Type	Gastroesophageal reflux, Short nose	ORPHA:85277
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Weight loss, Abnormal myocardium morphology, Pancreatitis, Thrombocy...	ORPHA:36426
Van Esch-O'Driscoll Syndrome	Depressed nasal bridge, Bifid uvula, Intrauterine growth retardation, Ventricular septal defect, ...	OMIM:301030
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Stomatocytosis, Growth delay, Fetal distress, Polyhydramnios, Splenomegaly, Hepatomegaly, Conjuga...	OMIM:608885
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Choanal atresia, Turricephaly, Brachycephaly, Convex nasal ridge, Frontal bossing	ORPHA:93262
Aymé-Gripp Syndrome	Depressed nasal bridge, Plagiocephaly, Postnatal growth retardation, Brachycephaly, Cleft palate,...	ORPHA:1272
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Wide nasal bridge, Depressed nasal bridge, Narrow nasal bridge, Ventricular septal defect, Brachy...	OMIM:620073
Hemihyperplasia-Multiple Lipomatosis Syndrome	Enlarged kidney, Nephroblastoma	ORPHA:276280
Acrofrontofacionasal Dysostosis 2	Brachycephaly, Thickened nuchal skin fold, Short stature, High palate, Wide nose	OMIM:239710
Chromosome 3Q13.31 Deletion Syndrome	Dolichocephaly, Brachycephaly, Plagiocephaly, High palate	OMIM:615433
White-Sutton Syndrome	Depressed nasal bridge, Bifid uvula, Broad nasal tip, Gastroesophageal reflux, Failure to thrive,...	OMIM:616364
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Abnormal atrioventricular conduction, Congestive heart failure, Hypertrophic cardiomyopathy, Decr...	ORPHA:280365
Lysosomal Acid Lipase Deficiency	Hypersplenism, Hepatosplenomegaly, Cachexia, Weight loss, Jaundice, Hyperkalemia, Esophageal vari...	ORPHA:275761
Acrodysostosis 1 With Or Without Hormone Resistance	Irregular menstruation, Depressed nasal bridge, Broad nasal tip, Disproportionate short-limb shor...	OMIM:101800
Macrophage Activation Syndrome	Hypoalbuminemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Splen...	ORPHA:158061
Brucellosis	Arteritis, Hypersplenism, Weight loss, Hepatomegaly, Elevated circulating C-reactive protein conc...	ORPHA:1304
Congenital Disorder Of Glycosylation, Type Iia	Failure to thrive, Postnatal growth retardation, Prominent nasal bridge, Protruding tongue, Ventr...	OMIM:212066
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:618961
Malan Overgrowth Syndrome	Depressed nasal bridge, Plagiocephaly, Tall stature, Scaphocephaly, High palate, Frontal bossing	ORPHA:420179
Omenn Syndrome	Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Ly...	OMIM:603554
Chromosome 2P16.1-P15 Deletion Syndrome	Wide nasal bridge, Depressed nasal bridge, Recurrent upper respiratory tract infections, High, na...	OMIM:612513
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Gastroesophageal reflux, Broad columella, Failure to thrive, Short nose	OMIM:617865
Apert Syndrome	Lambdoidal craniosynostosis, Choanal atresia, Depressed nasal bridge, Coronal craniosynostosis, B...	OMIM:101200
Trichothiodystrophy 1, Photosensitive	Hypogonadism, Intestinal obstruction, Telangiectasia, Short stature, Small for gestational age, S...	OMIM:601675
Fibrochondrogenesis 2	Anteverted nares, Frontal bossing, Short nose	OMIM:614524
Blepharophimosis-Impaired Intellectual Development Syndrome	Wide nasal bridge, Plagiocephaly, Gastroesophageal reflux, Underdeveloped nasal alae, Anteverted ...	OMIM:619293
Beck-Fahrner Syndrome	Cardiomegaly, Brachycephaly, High palate, Ventricular septal defect	OMIM:618798
Short Fifth Metacarpals-Insulin Resistance Syndrome	Short stature, Spherocytosis, Splenomegaly, Nasal congestion	ORPHA:66518
22Q11.2 Deletion Syndrome	Ventricular septal defect, Atrial septal defect, Anal atresia, Choanal atresia, Gastrointestinal ...	ORPHA:567
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Aorta Coarctation	Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor...	ORPHA:1457
Chromosome 15Q11.2 Deletion Syndrome	Plagiocephaly, Abnormal heart morphology, Bulbous nose, Narrow nose, Short stature, Cleft palate	OMIM:615656
Orofaciodigital Syndrome Type 4	Severe short stature, Choanal atresia, Depressed nasal ridge, High, narrow palate, Bifid uvula, F...	ORPHA:2753
Geleophysic Dysplasia 1	Aortic valve stenosis, Wide nasal bridge, Congestive heart failure, Anteverted nares, Mitral sten...	OMIM:231050
Fucosidosis	Failure to thrive, Abnormality of the gallbladder, Cardiomegaly, Brachycephaly, Hepatomegaly	ORPHA:349
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Wide nasal bridge, Choanal atresia, Depressed nasal bridge, Bifid uvula, Bulbous nose, Prominent ...	OMIM:300968
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Slender build, Ventricular septal defect, Atrial septal defect, High, narrow palate, Plagiocephal...	ORPHA:466791
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Vasculitis, Leukocytosis, Splenomegaly, Intestinal obstruction, Orchitis, Peritonitis, Abnormal m...	ORPHA:32960
Coffin-Siris Syndrome	Wide nasal base, Depressed nasal bridge, Recurrent upper respiratory tract infections, Broad nasa...	ORPHA:1465
Kikuchi-Fujimoto Disease	Vasculitis, Abnormal lymph node morphology, Cervical lymphadenopathy, Palpebral edema, Leukopenia...	ORPHA:50918
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Wide nasal bridge, Gastroesophageal reflux, Enlarged naris, Short columella, Slender nose, Brachy...	ORPHA:562528
Femoral-Facial Syndrome	Short stature, Cleft palate, Short nose	ORPHA:1988
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Narrow palate, Plagiocephaly, Decreased fetal movement	OMIM:617481
Acrocallosal Syndrome	Wide nasal bridge, Bifid uvula, Failure to thrive, Frontal bossing, Postnatal growth retardation,...	OMIM:200990
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Failure to thrive, Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Jaun...	OMIM:235555
Donnai-Barrow Syndrome	Depressed nasal bridge, Broad nasal tip, Intestinal malrotation, Ventricular septal defect, Short...	OMIM:222448
Bartter Syndrome, Type 3	Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Increased urinary potassium, Impaired renal tu...	OMIM:607364
Niemann-Pick Disease Type C	Fetal ascites, Ascites, Hepatosplenomegaly, Abnormality of the liver, Splenomegaly, Hydrops fetal...	ORPHA:646
7Q31 Microdeletion Syndrome	Plagiocephaly, Gastroesophageal reflux, Postnatal growth retardation, Intrauterine growth retarda...	ORPHA:251061
Lysinuric Protein Intolerance	Intraalveolar phospholipid accumulation, Hemophagocytosis, Failure to thrive, Increased circulati...	OMIM:222700
Oculocerebral Hypopigmentation Syndrome, Cross Type	Depressed nasal bridge, Anteverted nares, Anemia, Short stature, Dolichocephaly, Growth delay, Sh...	ORPHA:2719
Simpson-Golabi-Behmel Syndrome	Wide nasal bridge, High, narrow palate, Polysplenia, Cardiomyopathy, Bundle branch block, Tall st...	ORPHA:373
Oculodentodigital Dysplasia	Abnormality of the nose, Underdeveloped nasal alae, Broad columella, Cranial hyperostosis, Narrow...	ORPHA:2710
Bcard Syndrome	Arterial rupture, Intrauterine growth retardation, Postnatal growth retardation, Anteverted nares...	OMIM:612394
Atelosteogenesis, Type I	Depressed nasal bridge, Rhizomelia, Disproportionate short-limb short stature, Neonatal death, Cl...	OMIM:108720
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Villous atrophy, Portal hypertension, Hepatic steatosis, Spleno...	ORPHA:567983
Chédiak-Higashi Syndrome	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Hypoproteinemia, Pleur...	ORPHA:167
Cornelia De Lange Syndrome	Ventricular septal defect, Atrial septal defect, Primary amenorrhea, High palate, Short nose, Cho...	ORPHA:199
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Choanal atresia, Depressed nasal bridge, Hepatitis, Pancreatic hypoplasia, Chol...	OMIM:610199
Robinow Syndrome, Autosomal Dominant 2	Depressed nasal bridge, Anteverted nares, Cleft soft palate, Thickened calvaria, Cleft palate, Sh...	OMIM:616331
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microglossia, Failure to thrive, Underdeveloped nasal alae, Bulbous nose, Intrauterine growth ret...	ORPHA:364577
Intellectual Developmental Disorder, Autosomal Dominant 53	Posterior plagiocephaly, Intestinal malrotation, Ventricular septal defect, Overgrowth, Brachycep...	OMIM:617798
Larsen-Like Syndrome	Absent nasal bridge, Brachycephaly, Short stature, Frontal bossing, Cleft palate	OMIM:608545
Toluene Embryopathy	Short stature, Biparietal narrowing, Short nose	ORPHA:1920
Den Hoed-De Boer-Voisin Syndrome	Gastroesophageal reflux, Abnormality of prenatal development or birth, Intrauterine growth retard...	OMIM:619229
Microlissencephaly-Micromelia Syndrome	Failure to thrive, Polyhydramnios, Palpebral edema, Fetal pyelectasis, Short nose	ORPHA:50810
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Cardiomyopathy, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Schistocytosis, Hypochromi...	OMIM:616084
Immunodeficiency 31C	Protein-losing enteropathy, Lymphopenia, Villous atrophy, Autoimmune hemolytic anemia, Splenomega...	OMIM:614162
5Q14.3 Microdeletion Syndrome	Anteverted nares, Short nose	ORPHA:228384
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Ankyloglossia, Hyperbilirubinemia, Hepatic steatosis, Ventricular septal defect, Decreased body w...	OMIM:619475
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Failure to thrive, Conges...	ORPHA:137675
Peho Syndrome	Anteverted nares, Peripheral edema, Palpebral edema, Biparietal narrowing, Short nose, Pedal edema	ORPHA:2836
Osteoglophonic Dysplasia	Severe short stature, Choanal atresia, Rhizomelia, Depressed nasal bridge, Failure to thrive, Nas...	OMIM:166250
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension...	OMIM:620367
Otopalatodigital Syndrome, Type I	Wide nasal bridge, Prominent occiput, Cleft palate, Short stature, Frontal bossing, Short nose	OMIM:311300
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Plagiocephaly, Gastroesophageal reflux, Congestive heart failure, Abnormal heart morphology, Obes...	ORPHA:444077
Developmental And Epileptic Encephalopathy 1	Plagiocephaly, Growth delay, Dysphagia	OMIM:308350
Pfeiffer Syndrome Type 1	Depressed nasal bridge, Bicoronal synostosis, Brachycephaly, High palate, Short nose	ORPHA:93258
Simpson-Golabi-Behmel Syndrome, Type 1	Exaggerated median tongue furrow, Birth length greater than 97th percentile, Tall stature, Ventri...	OMIM:312870
Pallister-Hall Syndrome	Choanal atresia, Depressed nasal bridge, Microglossia, Anteriorly placed anus, Intrauterine growt...	OMIM:146510
Pfeiffer Syndrome Type 3	Depressed nasal bridge, Choanal atresia, Brachyturricephaly, Intestinal malrotation, High palate,...	ORPHA:93260
Pfeiffer Syndrome Type 2	Depressed nasal bridge, Choanal atresia, Intestinal malrotation, High palate, Short nose, Anal at...	ORPHA:93259
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Polycythemia, Micronodular cirrhosis, Increased to...	ORPHA:309854
Gray Platelet Syndrome	Epistaxis, Abnormal number of alpha granules, Splenomegaly, Thrombocytopenia, Menorrhagia	OMIM:139090
Ctcf-Related Neurodevelopmental Disorder	Broad nasal tip, Gastroesophageal reflux, Failure to thrive, Fetal distress, Pulmonary hemorrhage...	ORPHA:363611
Adenylosuccinase Deficiency	Brachycephaly, Anteverted nares, Growth delay, Short nose	OMIM:103050
Oculodentodigital Dysplasia	Underdeveloped nasal alae, Narrow nose, Narrow nasal bridge, Anteverted nares, Arrhythmia, Atrial...	OMIM:164200
Peters Plus Syndrome	Hypoplastic left heart, Depressed nasal bridge, Rhizomelia, Disproportionate short-limb short sta...	ORPHA:709
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Aniridia, Anophthalmia	ORPHA:1101
Proteasome-Associated Autoinflammatory Syndrome 1	Irregular menstruation, Recurrent upper respiratory tract infections, Failure to thrive, Congesti...	OMIM:256040
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Momo Syndrome	Wide nasal base, Tall stature, Obesity, Large for gestational age, Overgrowth, Brachycephaly, Sho...	ORPHA:2563
Neutral Lipid Storage Disease With Myopathy	Cardiomyopathy, Chronic pancreatitis, Hepatic steatosis, Splenomegaly, Elevated circulating creat...	OMIM:610717
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Increased circula...	OMIM:194380
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormal intestine morphology, Cachexia, Neutropenia, Abnormal blood ion concentration, Autoimmun...	ORPHA:37042
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Cholestasis, Hepatosplenomegaly, Cleft soft palate, Hepatic steatosis, Ventricular septal defect,...	OMIM:619503
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Depressed nasal bridge, Rhizomelia, Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bi...	OMIM:245600
Warburg Micro Syndrome 3	Narrow palate, Postnatal growth retardation, Brachycephaly, Short nose	OMIM:614222
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Wide nasal bridge, Depressed nasal bridge, High, narrow palate, Restrictive cardiomyopathy, Gastr...	ORPHA:369837
Proboscis Lateralis	Unilateral renal agenesis, Duplication of renal pelvis, Ureteral agenesis, Anophthalmia, Micropht...	ORPHA:141099
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Thin calvarium, Frontal bossing, Short nose	ORPHA:1129
Familial Thrombocytosis	Chronic myelogenous leukemia, Transient ischemic attack, Cerebral ischemia, Splenomegaly, Pulmona...	ORPHA:71493
Acrofrontofacionasal Dysostosis	Broad nasal tip, Brachycephaly, Dimple on nasal tip, Short stature, High palate, Cleft palate	ORPHA:1784
Opitz-Kaveggia Syndrome	Choanal atresia, Anal stenosis, Plagiocephaly, Narrow palate, Anteriorly placed anus, Abnormal he...	OMIM:305450
Multiple Pterygium-Malignant Hyperthermia Syndrome	Severe short stature, Plagiocephaly, Amniotic constriction ring, Abnormal circulating creatine ki...	ORPHA:2215
Micro Syndrome	Wide nasal bridge, Intrauterine growth retardation, Anteverted nares, Delayed puberty, Short stat...	ORPHA:2510
Intellectual Developmental Disorder, Autosomal Dominant 58	Wide nasal bridge, Broad nasal tip, Plagiocephaly, Protruding tongue, Submucous cleft hard palate...	OMIM:618106
Primary Sclerosing Cholangitis	Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrhosis, Weight loss, Hepat...	ORPHA:171
Intellectual Developmental Disorder, Autosomal Dominant 66	Brachycephaly, Plagiocephaly, Secundum atrial septal defect, Transposition of the great arteries	OMIM:619910
Stuve-Wiedemann Syndrome 1	Wide nasal base, Smooth tongue, Intrauterine growth retardation, Anteverted nares, Oligohydramnio...	OMIM:601559
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Atrioventricular block, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, ...	ORPHA:371428
Pontocerebellar Hypoplasia, Type 10	Wide nasal bridge, Gastroesophageal reflux, Underdeveloped nasal alae, Bulbous nose, High palate,...	OMIM:615803
Frontonasal Dysplasia 3	Wide nasal bridge, Brachycephaly, Cleft palate, Underdeveloped nasal alae	OMIM:613456
Intellectual Developmental Disorder, Autosomal Dominant 64	Depressed nasal bridge, Plagiocephaly, Bulbous nose, Anteverted nares, High palate, Growth delay	OMIM:619188
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Depressed nasal bridge, Underdeveloped nasal alae, Telangiectasia of the skin, Breech presentatio...	OMIM:616007
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Wide nasal bridge, Microcolon, Underdeveloped nasal alae, Hypogonadism, Prominent nasal bridge, I...	ORPHA:163746
Spherocytosis, Type 2	Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:616649
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Lambdoidal craniosynostosis, Depressed nasal bridge, Choanal atresia, Coronal craniosynostosis, B...	OMIM:207410
Rothmund-Thomson Syndrome, Type 2	Depressed nasal bridge, Annular pancreas, Anteriorly placed anus, Hypogonadism, Telangiectasia, S...	OMIM:268400
Familial Mediterranean Fever	Leukocytosis, Splenomegaly, Pleural effusion, Orchitis, Crohn's disease, Peritonitis, Elevated ci...	OMIM:249100
Ayme-Gripp Syndrome	Wide nasal bridge, Depressed nasal bridge, Craniofacial asymmetry, Brachycephaly, Short stature, ...	OMIM:601088
Spondylodysplastic Ehlers-Danlos Syndrome	Aortic valve stenosis, Depressed nasal bridge, Lymphedema, Abnormal heart valve morphology, Hypog...	ORPHA:536471
1P36 Deletion Syndrome	Abnormality of the spleen, Hepatic steatosis, Telangiectasia, Abnormal intestine morphology, Dysp...	ORPHA:1606
Marshall Syndrome	Depressed nasal bridge, Bifid uvula, Anteverted nares, Thickened calvaria, Short stature, Cleft p...	OMIM:154780
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Neoplasm...	ORPHA:100026
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Delayed u...	OMIM:608203
Wiedemann-Steiner Syndrome	Wide nasal bridge, Rhizomelia, Gastroesophageal reflux, Failure to thrive, Postnatal growth retar...	ORPHA:319182
Otopalatodigital Syndrome Type 2	Depressed nasal bridge, Failure to thrive, Abnormal heart valve morphology, Thickened calvaria, A...	ORPHA:90652
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Anteverted nares, Plagiocephaly	OMIM:618731
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Plagiocephaly, Gastroesophageal reflux, Failure to thrive, Hypogonadism, Decreased fetal movement...	ORPHA:500055
Autoimmune Hemolytic Anemia, Warm Type	Congestive heart failure, Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, ...	ORPHA:90033
Autism, Susceptibility To, X-Linked 2	Plagiocephaly	OMIM:300495
Weill-Marchesani Syndrome 2	Aortic valve stenosis, Depressed nasal bridge, Narrow palate, Congestive heart failure, Mitral re...	OMIM:608328
Autosomal Recessive Robinow Syndrome	Wide nasal bridge, Depressed nasal bridge, Disproportionate short-limb short stature, Tetralogy o...	ORPHA:1507
Fraser Syndrome 2	Underdeveloped nasal alae, Intestinal malrotation, Oligohydramnios, Hypoplasia of the thymus, Rec...	OMIM:617666
Double Outlet Left Ventricle	Failure to thrive, Abnormal right ventricular function, Cardiomegaly, Ventricular septal defect, ...	ORPHA:3427
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Plagiocephaly	ORPHA:459074
Dend Syndrome	Elevated hemoglobin A1c, Anteverted nares, Dehydration, Short nose	ORPHA:79134
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Failure to thrive, Complete atrioventricular canal defect, High palate, Hypercalcemia, Short nose	ORPHA:476126
Fraser Syndrome 1	Renal hypoplasia, Bilateral microphthalmos, Anophthalmia, Renal hypoplasia/aplasia, Micropenis, H...	OMIM:219000
Waardenburg Syndrome Type 1	Wide nasal bridge, Underdeveloped nasal alae, Aganglionic megacolon, Short nose, Cleft palate	ORPHA:894
Craniosynostosis 2	Unicoronal synostosis, Trigonocephaly, Bicoronal synostosis, Cleft soft palate, Turricephaly, Bra...	OMIM:604757
Interatrial Communication	Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai...	ORPHA:1478
Paternal Uniparental Disomy Of Chromosome 6	Postnatal growth retardation, Intrauterine growth retardation, Prominent nose, Oligohydramnios, P...	ORPHA:96191
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Leukemia, Anophthalmia, Microphthalmia	ORPHA:2526
Trisomy 20P	Plagiocephaly, Anteverted nares, Brachycephaly, Ectopic anus, Dolichocephaly, Frontal bossing, Sh...	ORPHA:261318
White-Sutton Syndrome	Depressed nasal bridge, Broad nasal tip, Gastroesophageal reflux, Abnormal heart morphology, Obes...	ORPHA:468678
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epistaxis, Joint hemorrhage, Short nose, Cerebral hemorrhage	OMIM:277450
Distal Deletion 12Q	High, narrow palate, Congenital hypertrophy of left ventricle, Annular pancreas, Microglossia, Fr...	ORPHA:96149
Bifid Nose With Or Without Anorectal And Renal Anomalies	Anteriorly placed anus, Bulbous nose, Brachycephaly, Bifid nose, Rectovaginal fistula, Ebstein an...	OMIM:608980
Premature Aging Syndrome, Penttinen Type	Failure to thrive, Narrow nose, Thin calvarium, Prominent nasal bridge, Aplasia of the nasal bone...	OMIM:601812
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection...	OMIM:602450
Gaucher Disease, Type Iiic	Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val...	OMIM:231005
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Depressed nasal bridge, Disproportionate short-limb short stature, Congenital hepatic fibrosis, E...	ORPHA:93271
Kleefstra Syndrome 1	Gastroesophageal reflux, Obesity, Anteverted nares, Conotruncal defect, Protruding tongue, Brachy...	OMIM:610253
Cerebrooculonasal Syndrome	Anophthalmia, Optic nerve hypoplasia	OMIM:605627
Cadds	Cholestasis, Intrauterine growth retardation, Increased circulating very long-chain fatty acid co...	ORPHA:369942
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Aortic regurgitation, Tricuspid regurgitation, Intestinal malrotation, Short columella, Mitral re...	OMIM:601776
Mucopolysaccharidosis Type 2, Severe Form	Wide nasal bridge, Macroglossia, Recurrent upper respiratory tract infections, Growth delay, Card...	ORPHA:217085
Momo Syndrome	Wide nasal bridge, Obesity, Overgrowth, Brachycephaly, High palate, Frontal bossing	OMIM:157980
Familial Mediterranean Fever	Vasculitis, Oral leukoplakia, Ascites, Gastrointestinal infarctions, Leukocytosis, Splenomegaly, ...	ORPHA:342
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Depressed nasal bridge, Plagiocephaly, Postnatal growth retardation, Anteverted nares, Oligohydra...	ORPHA:536467
Multiple Myeloma	Tall stature, Elevated circulating creatinine concentration, Functional abnormality of the gastro...	ORPHA:29073
Lathosterolosis	Hepatic fibrosis, Intrahepatic cholestasis, Elevated circulating lathosterol concentration, Antev...	OMIM:607330
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Depressed nasal bridge, Tetralogy of Fallot, Hamartoma of tongue, Absent gallbladder, Complete at...	OMIM:617925
Spherocytosis, Type 4	Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Ruvalcaba Syndrome	Intrauterine growth retardation, Delayed puberty, Convex nasal ridge, Short nose	ORPHA:3121
Rhombencephalosynapsis	Anteverted nares, Aganglionic megacolon, Tracheoesophageal fistula, Esophageal atresia, Anal atre...	ORPHA:59315
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper...	OMIM:617394
Thrombocytopenia-Absent Radius Syndrome	Meckel diverticulum, Edema of the dorsum of feet, Tetralogy of Fallot, Atrioventricular canal def...	OMIM:274000
Spherocytosis, Type 1	Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:182900
De Barsy Syndrome	Premature rupture of membranes, Failure to thrive, Postnatal growth retardation, Intrauterine gro...	ORPHA:2962
Intellectual Developmental Disorder, X-Linked 21	Short nose	OMIM:300143
Mucopolysaccharidosis Type 2, Attenuated Form	Wide nasal bridge, Macroglossia, Recurrent upper respiratory tract infections, Growth delay, Card...	ORPHA:217093
Proteasome-Associated Autoinflammatory Syndrome 3	Periorbital edema, Failure to thrive, Lymphopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, T...	OMIM:617591
Cdags Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Parietal foramina, Rectourethral fistula, ...	OMIM:603116
Congenital Tracheomalacia	Recurrent upper respiratory tract infections, Gastroesophageal reflux, Failure to thrive, Abnorma...	ORPHA:95430
Distal Deletion 9P	Wide nasal bridge, High, narrow palate, Trigonocephaly, Short nose, Cleft palate	ORPHA:1642
Primary Biliary Cholangitis	Hypoalbuminemia, Hepatic fibrosis, Biliary cirrhosis, Hepatitis, Abnormal circulating lipid conce...	ORPHA:186
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Postnatal growth retardat...	OMIM:616263
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Depressed nasal bridge, Premature birth, Anteverted nares, Protruding tongue, Brachycephaly, Flat...	OMIM:618797
Charge Syndrome	Renal hypoplasia, Renal agenesis, Horseshoe kidney, Lymphopenia, Unilateral microphthalmos, Anoph...	OMIM:214800
Charge Syndrome	Horseshoe kidney, Vesicoureteral reflux, Anophthalmia, Hydronephrosis, Microphthalmia, Micropenis	ORPHA:138
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple...	OMIM:301078
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Depressed nasal bridge, Long nose, High palate, Right bundle branch block, Short nose	OMIM:618590
Chromosome 17P13.1 Deletion Syndrome	High, narrow palate, Depressed nasal bridge, Plagiocephaly, Bulbous nose, Anteverted nares, Promi...	OMIM:613776
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatic bridging fibrosis, Hepatic fibrosis, Failure to thri...	OMIM:300972
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Depressed nasal bridge, Short nose, Polyhydramnios, Frontal bossing, Cleft palate	ORPHA:1812
Microphthalmia, Syndromic 1	High, narrow palate, Bicuspid aortic valve, Aganglionic megacolon, Anal atresia, High palate, Gro...	OMIM:309800
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Anosmia, Hypogonadotropic hypogonadism, Abnormal nostril morphology, Short nose	ORPHA:1295
Warburg Micro Syndrome 4	Anteverted nares, Prominent nasal bridge, Severe postnatal growth retardation, Brachycephaly, Sho...	OMIM:615663
Johanson-Blizzard Syndrome	Ventricular septal defect, Atrial septal defect, Hepatomegaly, Anal atresia, Rectovaginal fistula...	OMIM:243800
2Q23.1 Microdeletion Syndrome	Short stature, Brachycephaly, Growth delay	ORPHA:228402
Turnpenny-Fry Syndrome	Aortic regurgitation, Plagiocephaly, Gastroesophageal reflux, Failure to thrive, Intrauterine gro...	OMIM:618371
Absent Radius-Anogenital Anomalies Syndrome	Oligohydramnios, Perineal fistula, Rectal atresia, Anal atresia, Rectovaginal fistula	ORPHA:3016
Baller-Gerold Syndrome	Lambdoidal craniosynostosis, Perineal fistula, High palate, Anal atresia, Rectovaginal fistula, C...	OMIM:218600
Toriello-Lacassie-Droste Syndrome	Failure to thrive, Anteverted nares, Aganglionic megacolon, Polyhydramnios, Growth delay, Short nose	ORPHA:3339
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Intestinal malrotation, Intrauterine growth retardation, Cleft soft palate, Leukocytosis, Hepatic...	OMIM:619321
Warburg Micro Syndrome 2	Postnatal growth retardation, Brachycephaly, Prominent nasal bridge, Short nose	OMIM:614225
Cornelia De Lange Syndrome 1	High, narrow palate, Choanal atresia, Depressed nasal bridge, Gastroesophageal reflux, Intrauteri...	OMIM:122470
Robinow-Sorauf Syndrome	Plagiocephaly, Narrow nose, Long nose, Craniosynostosis, Pansynostosis	OMIM:180750
Holoprosencephaly 7	Wide nasal bridge, Hypoplastic nasal septum, Depressed nasal tip, Midline defect of the nose, Med...	OMIM:610828
Cryohydrocytosis	Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia	OMIM:185020
Oculodentodigital Dysplasia, Autosomal Recessive	Failure to thrive, Underdeveloped nasal alae, Narrow nose, Brachycephaly, Short stature, Long nos...	OMIM:257850
Distal Deletion 3P	Atrioventricular canal defect, Intrauterine growth retardation, Anteverted nares, Brachycephaly, ...	ORPHA:1620
Specc1L-Related Hypertelorism Syndrome	Wide nasal bridge, Tetralogy of Fallot, Prominent nasal bridge, Ventricular septal defect, Arrhyt...	ORPHA:1519
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1	Plagiocephaly	OMIM:607313
Intellectual Developmental Disorder, Autosomal Recessive 38	Narrow palate, Plagiocephaly	OMIM:615516
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Failure to thrive, Exocrine pancreatic insufficiency, Mild postnatal growth retardation, Decrease...	ORPHA:456312
Gapo Syndrome	High, narrow palate, Depressed nasal bridge, Plagiocephaly, Frontal bossing, Anteverted nares, He...	OMIM:230740
Renal And Mullerian Duct Hypoplasia	Severe postnatal growth retardation, Frontal bossing, Short nose	OMIM:266810
Vulto-Van Silfhout-De Vries Syndrome	Brachycephaly, Frontal bossing, High palate	OMIM:615828
Chilton-Okur-Chung Neurodevelopmental Syndrome	Posterior plagiocephaly, Ankyloglossia, Mild fetal ventriculomegaly, Chordee, Broad nasal tip, Pl...	OMIM:619841
Immunodeficiency 82 With Systemic Inflammation	Anoperineal fistula, Follicular hyperplasia, Weight loss, Elevated circulating C-reactive protein...	OMIM:619381
Behçet Disease	Aortic regurgitation, Vasculitis, Gastrointestinal hemorrhage, Pulmonary embolism, Cerebral ische...	ORPHA:117
Phosphoribosylpyrophosphate Synthetase Superactivity	Depressed nasal bridge, Hyperuricemia, Convex nasal ridge, Short stature, High palate, Small for ...	OMIM:300661
Cardiac-Urogenital Syndrome	Accessory spleen, Penoscrotal hypospadias, Micropenis, Patent urachus, Enlarged kidney	OMIM:618280
Acrofacial Dysostosis, Catania Type	Short stature, Intrauterine growth retardation, Short nose, Premature birth	ORPHA:1786
Hyperlipoproteinemia, Type Id	Failure to thrive, Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceri...	OMIM:615947
Cenani-Lenz Syndrome	High, narrow palate, Frontal bossing, Convex nasal ridge, Short nose	ORPHA:3258
Mietens Syndrome	Severe short stature, Wide nasal bridge, Short nose, Wide nose	ORPHA:2557
Isolated Biliary Atresia	Periportal fibrosis, Small for gestational age, Failure to thrive, Cholestasis, Atretic gallbladd...	ORPHA:30391
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Wide nasal bridge, Intrauterine growth retardation, Anteverted nares, Cleft soft palate, Submucou...	ORPHA:2282
Band Heterotopia	Plagiocephaly	OMIM:600348
Focal Dermal Hypoplasia	Horseshoe kidney, Bifid ureter, Aniridia, Anophthalmia, Hydronephrosis, Microphthalmia, Ureteral ...	OMIM:305600
Schinzel-Giedion Midface Retraction Syndrome	Depressed nasal bridge, Macroglossia, Failure to thrive, Postnatal growth retardation, Anteverted...	OMIM:269150
Cortical Dysplasia, Complex, With Other Brain Malformations 13	Plagiocephaly	OMIM:614563
Difference Of Sex Development-Intellectual Disability Syndrome	Hypogonadism, Short nose	ORPHA:2983
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Lambdoidal craniosynostosis, Brachycephaly, Bicoronal synostosis, Flat occiput	OMIM:618736
Osteogenesis Imperfecta, Type Xx	Narrow palate, Plagiocephaly, Disproportionate short-limb short stature, Bulbous nose, Intrauteri...	OMIM:618644
Brain Malformations With Or Without Urinary Tract Defects	Anteverted nares, Failure to thrive, Short nose	OMIM:613735
Saethre-Chotzen Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Plagiocephaly, Skull asymmetry, Parietal f...	OMIM:101400
Molybdenum Cofactor Deficiency, Type B	Hypouricemia, Growth delay, Neonatal death, Frontal bossing, Short nose	OMIM:252160
Anauxetic Dysplasia 3	Severe short stature, Depressed nasal bridge, Plagiocephaly, Gastroesophageal reflux	OMIM:618853
Jaberi-Elahi Syndrome	Depressed nasal bridge, Failure to thrive, Short nose	OMIM:617988
Malan Syndrome	Overgrowth, Short nose	OMIM:614753
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Plagiocephaly, Micronodular cirrhosis, Ascites, Splenomegaly, Hepatomegaly, Brachycephaly, Thromb...	OMIM:301072
Plaa-Associated Neurodevelopmental Disorder	Failure to thrive, Edema of the dorsum of hands, Edema of the dorsum of feet, High palate, Impair...	ORPHA:521426
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Depressed nasal bridge, Rhizomelia, Disproportionate short-limb short stature, Bulbous nose, Ante...	OMIM:271510
Paroxysmal Nocturnal Hemoglobinuria	Pancytopenia, Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Jaundice, Dysphagia, Re...	ORPHA:447
Penile Agenesis	Depressed nasal bridge, Anorectal anomaly, Oligohydramnios, Ventricular septal defect, Tracheoeso...	ORPHA:49
X-Linked Intellectual Disability Due To Gria3 Mutations	Short stature, Slender build, Brachycephaly, Narrow palate	ORPHA:364028
Neurodegeneration With Brain Iron Accumulation 2A	Frontal bossing, Short nose	OMIM:256600
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Wide nasal bridge, Depressed nasal bridge, Bifid uvula, Gastroesophageal reflux, Fetal distress, ...	ORPHA:500150
Autosomal Recessive Malignant Osteopetrosis	Abnormal pulmonary valve morphology, Splenomegaly, Hypocalcemia, Chronic rhinitis, Hepatomegaly, ...	ORPHA:667
Robinow Syndrome, Autosomal Recessive 1	Wide nasal bridge, Depressed nasal bridge, Microglossia, Frontal bossing, Abnormal heart morpholo...	OMIM:268310
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Short nose	OMIM:618087
Stickler Syndrome	Depressed nasal ridge, Depressed nasal bridge, Gastroesophageal reflux, Bifid uvula, Slender buil...	ORPHA:828
Monosomy 9Q22.3	Tall stature, Large for gestational age, Trigonocephaly, Cardiac fibroma, Short nose	ORPHA:77301
7Q11.23 Microduplication Syndrome	Aortic valve stenosis, Broad nasal tip, Obesity, Abnormal columella morphology, Ventricular septa...	ORPHA:96121
Hoxha-Aliu Syndrome	Wide nasal bridge, Brachycephaly, Perimembranous ventricular septal defect, Atrial septal defect,...	OMIM:620662
Crouzon Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Brachycephaly, Sagittal craniosynostosis, ...	OMIM:123500
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Plagiocephaly, Obesity, Brachycephaly, Polyhydramnios, Frontal bossing	OMIM:617296
Dysostosis, Stanescu Type	Narrow nasal bridge, Brachycephaly, Abnormal nasal morphology, Convex nasal ridge, Short stature,...	ORPHA:1798
Marbach-Schaaf Neurodevelopmental Syndrome	Depressed nasal bridge, Broad nasal tip, Plagiocephaly, Obesity, Submucous cleft hard palate	OMIM:619680
Holoprosencephaly 9	Micropenis, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:610829
Bartsocas-Papas Syndrome	Cleft palate, Underdeveloped nasal alae, Short nose	ORPHA:1234
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia, Narrow nasal ridge, High palate, Growth delay, Short nose	OMIM:608612
Proteus Syndrome	Long penis, Thymus hyperplasia, Splenomegaly, Enlarged polycystic ovaries, Renal cyst, Buphthalmo...	ORPHA:744
Autosomal Recessive Faciodigitogenital Syndrome	Anteverted nares, Prominent nasal bridge, Brachycephaly, Short stature, High palate, Frontal boss...	ORPHA:1974
Fraser Syndrome	Abnormality of the urinary system, Anophthalmia, Renal hypoplasia/aplasia, Urethral atresia, Micr...	ORPHA:2052
Chromosome 16P13.3 Duplication Syndrome	Wide nasal bridge, Depressed nasal bridge, Bifid uvula, Tetralogy of Fallot, Bulbous nose, Anteve...	OMIM:613458
Truncus Arteriosus	Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Intrauterine growth retarda...	ORPHA:3384
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	High, narrow palate, Bifid uvula, Tall stature, Anteverted nares, Prominent nasal bridge, Bulbous...	OMIM:309583
Alpha-Mannosidosis, Infantile Form	Aortic regurgitation, Depressed nasal bridge, Macroglossia, Cranial hyperostosis, Hepatosplenomeg...	ORPHA:309282
Omodysplasia 1	Wide nasal bridge, Depressed nasal bridge, Rhizomelia, Disproportionate short-limb short stature,...	OMIM:258315
Viss Syndrome	Cleft soft palate, Mitral valve prolapse, Ventricular septal defect, Atrial septal defect, Celiac...	OMIM:619472
Saethre-Chotzen Syndrome	Depressed nasal bridge, Plagiocephaly, Prominent nasal bridge, Brachycephaly, Convex nasal ridge,...	ORPHA:794
Richieri-Costa/Guion-Almeida Syndrome	Short stature, Brachycephaly, Cleft palate	OMIM:268850
Nicolaides-Baraitser Syndrome	Wide nasal base, High, narrow palate, Failure to thrive, Bulbous nose, Intrauterine growth retard...	OMIM:601358
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Hematochezia, Gastrointestinal carcinoma, Mitral regurgitation, Mitral valve prolapse,...	OMIM:175050
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Gastroesophageal reflux, Brachyturricephaly, Prominent nasal tip, Atrial septal defect, Short nose	ORPHA:522077
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Failure to thrive, Edema, High palate, Dysphagia, Short nose	OMIM:617527
Lynch Syndrome	Gastrointestinal hemorrhage, Cardiac diverticulum, Colon cancer, Pancreatic adenocarcinoma, Intes...	ORPHA:144
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Depressed nasal bridge, Plagiocephaly, Secundum atrial septal defect, Postnatal growth retardatio...	OMIM:613355
Hallermann-Streiff Syndrome	High, narrow palate, Choanal atresia, Underdeveloped nasal alae, Abdominal situs inversus, Conges...	ORPHA:2108
Microphthalmia With Limb Anomalies	Horseshoe kidney, True anophthalmia, Microphthalmia	ORPHA:1106
Frank-Ter Haar Syndrome	Depressed nasal bridge, Broad nasal tip, Secundum atrial septal defect, Anteverted nares, Mitral ...	OMIM:249420
9P13 Microdeletion Syndrome	Wide nasal bridge, Anteverted nares, Brachycephaly, Short stature, High palate	ORPHA:324313
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Granulomatous Disease, Chronic, X-Linked	Lymphadenitis, Ascites, Impaired oxidative burst, Pleural effusion, Splenomegaly, Granulomatosis,...	OMIM:306400
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Plagiocephaly, Hypertrophic cardiomyopathy, Hepatosplenomeg...	ORPHA:51
Metaphyseal Chondrodysplasia, Jansen Type	Severe short stature, Choanal atresia, Brachycephaly, Choanal stenosis, Hypophosphatemia, Hyperca...	OMIM:156400
9Q33.3Q34.11 Microdeletion Syndrome	Epistaxis, Plagiocephaly, Bulbous nose, Esophagitis, Telangiectasia, Brachycephaly, Dysphagia, Wi...	ORPHA:495818
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Postnatal growth retardation, Hepatosplenomegaly, Large placenta, Ventricular septal defect, Hepa...	ORPHA:96334
Oculocerebrofacial Syndrome, Kaufman Type	High, narrow palate, Failure to thrive, Brachycephaly, Growth delay, Flat occiput	ORPHA:2707
Schinzel-Giedion Syndrome	Broad nasal tip, Annular pancreas, Anteriorly placed anus, Abnormal heart morphology, Failure to ...	ORPHA:798
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Plagiocephaly, Failure to thrive, Frontal bossing, Bulbous nose, Narrow nasal ridge, Brachycephal...	OMIM:619512
Lipodystrophy, Congenital Generalized, Type 2	Hypertrophic cardiomyopathy, Tall stature, Decreased fertility, Splenomegaly, Hepatic steatosis, ...	OMIM:269700
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Brachycephaly	OMIM:619972
Houge-Janssens Syndrome 2	Anteverted nares, Plagiocephaly	OMIM:616362
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Wide nasal bridge, Bifid uvula, Posterior plagiocephaly, Broad nasal tip, Scaphocephaly, Hypocalc...	OMIM:620330
Microphthalmia, Syndromic 2	Hypospadias, Anophthalmia, Microphthalmia	OMIM:300166
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia, Delayed puberty, Calcinosis, Convex nasal ridge, Short stature, Short nose	ORPHA:90154
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Atrial septal defect, High palate, Aortic regurgitation, Bulbous nose, Tru...	OMIM:612474
Schimmelpenning-Feuerstein-Mims Syndrome	Hypophosphatemic rickets, Overgrowth, Cranial asymmetry, Short stature, Growth delay	OMIM:163200
Temtamy Preaxial Brachydactyly Syndrome	Short stature, Growth delay, Short nose	ORPHA:363417
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Weight loss, Hypophosphatemia, Hepatomegaly, Dysph...	OMIM:219800
Developmental And Epileptic Encephalopathy 65	Plagiocephaly	OMIM:618008
Acrofacial Dysostosis, Cincinnati Type	Choanal atresia, Depressed nasal bridge, Failure to thrive, Bilateral choanal atresia, Biventricu...	OMIM:616462
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Plagiocephaly, Frontal bossing, Elevated circulating creatine kinase concentration, Low hanging c...	OMIM:617193
C Syndrome	Depressed nasal bridge, Failure to thrive in infancy, Trigonocephaly, Anteverted nares, Polyhydra...	ORPHA:1308
Witteveen-Kolk Syndrome	Wide nasal bridge, Flared nostrils, Depressed nasal bridge, Gastroesophageal reflux, High, narrow...	OMIM:613406
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Depressed nasal bridge, Brachycephaly, Short nose, Growth delay, Cleft palate	OMIM:601353
Holoprosencephaly-Craniosynostosis Syndrome	Short stature, Craniosynostosis, Brachycephaly, Plagiocephaly	ORPHA:2163
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Wide nasal bridge, Depressed nasal bridge, Plagiocephaly, Tetralogy of Fallot, Large for gestatio...	OMIM:280000
Faciodigitogenital Syndrome, Autosomal Recessive	Narrow palate, Anteverted nares, Prominent nasal bridge, Proportionate short stature, Brachycepha...	OMIM:227330
Muenke Syndrome	High, narrow palate, Coronal craniosynostosis, Brachycephaly, Plagiocephaly	ORPHA:53271
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Depressed nasal bridge, Broad nasal tip, Bulbous nose, Trigonocephaly, Brachycephaly, Short statu...	OMIM:309590
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Craniosynostosis, Brachycephaly	OMIM:614416
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab...	OMIM:233710
Carpenter Syndrome 2	Wide nasal bridge, Depressed nasal bridge, High, narrow palate, Narrow palate, Narrow naris, Tric...	OMIM:614976
Craniosynostosis And Dental Anomalies	Lambdoidal craniosynostosis, Depressed nasal bridge, Coronal craniosynostosis, Narrow palate, Fla...	OMIM:614188
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Depressed nasal bridge, Plagiocephaly, Bulbous nose, Anteverted nares, Turricephaly, Long nose, H...	OMIM:620224
Reynolds Syndrome	Gastrointestinal hemorrhage, Biliary cirrhosis, Palmar telangiectasia, Cholestasis, Lymphopenia, ...	OMIM:613471
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab...	OMIM:233690
Multicentric Osteolysis, Nodulosis, And Arthropathy	Bulbous nose, Narrow nasal bridge, Mitral valve prolapse, Brachycephaly, Short stature, Frontal b...	OMIM:259600
Acromelic Frontonasal Dysplasia	Bifid nasal tip, Broad nasal tip, Thick nasal alae, Median cleft palate, Brachycephaly, Bifid nose	ORPHA:1827
Arboleda-Tham Syndrome	Bifid nasal tip, Broad nasal tip, Secundum atrial septal defect, Plagiocephaly, Gastroesophageal ...	OMIM:616268
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Short stature, Brachycephaly	OMIM:109120
Mesomelic Dysplasia, Nievergelt Type	Brachycephaly, Mesomelic short stature, Dolichocephaly	ORPHA:2633
Lipodystrophy, Familial Partial, Type 7	Failure to thrive, Pleural effusion, Narrow nasal ridge, Recurrent pancreatitis, Pulmonary arteri...	OMIM:606721
Nablus Mask-Like Facial Syndrome	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Craniosynostosis, High palate, Front...	OMIM:608156
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Short stature, Postnatal growth retardation, Brachycephaly, Hyposegmentation of neutrophil nuclei	OMIM:614800
Gorlin-Chaudhry-Moss Syndrome	Short stature, Coronal craniosynostosis, Brachycephaly, Aplasia/Hypoplasia of the nasal bone	ORPHA:2095
Msh3-Related Attenuated Familial Adenomatous Polyposis	Stomach cancer, Juvenile gastrointestinal polyposis, Multiple gastric polyps, Neoplasm of the rec...	ORPHA:480536
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Narrow palate, Anal atresia, Plagiocephaly, Premature birth	ORPHA:2063
Chime Syndrome	Depressed nasal ridge, Acute leukemia, Tetralogy of Fallot, Tall stature, Ventricular septal defe...	ORPHA:3474
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Choanal atresia, Gastroesophageal reflux, Narrow nose, Intrauterine growth retardation, Anteverte...	OMIM:301044
Fibrochondrogenesis	Depressed nasal bridge, Plagiocephaly, Anteverted nares, Short stature, Cleft palate	ORPHA:2021
Cornelia De Lange Syndrome 6	Gastroesophageal reflux, Atrioventricular canal defect, Intrauterine growth retardation, Antevert...	OMIM:620568
White-Kernohan Syndrome	Depressed nasal bridge, Gastroesophageal reflux, Underdeveloped nasal alae, Anteriorly placed anu...	OMIM:619426
Telangiectasia, Hereditary Hemorrhagic, Type 2	Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Cirrhosis, Polycythemia, Facial tel...	OMIM:600376
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Wide nasal base, Choanal atresia, Wide nasal bridge, Flared nostrils, Depressed nasal bridge, Car...	ORPHA:480880
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Short stature, Plagiocephaly, Cleft palate, Thickened nuchal skin fold	ORPHA:2916
Galloway-Mowat Syndrome 4	Short stature, Plagiocephaly	OMIM:617730
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Pancytopenia, Pleural effusion, Splenomegaly, Hepatomegaly, ...	OMIM:181000
Hunter-Macdonald Syndrome	Aortic regurgitation, Mitral regurgitation, Mitral valve prolapse, Bicuspid aortic valve, Brachyc...	OMIM:611962
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Abnormal circulating lipid concentration, Decreased HDL cholesterol concentration...	ORPHA:77293
Monosomy 9P	Depressed nasal bridge, Choanal atresia, Trigonocephaly, Anteverted nares, Calvarial skull defect...	ORPHA:261112
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Plagiocephaly, Elevated circulating creatine kinase concentration, Dysphagia, Polyhydramnios, Gro...	ORPHA:496641
Hereditary Hemorrhagic Telangiectasia	Nasal mucosa telangiectasia, Telangiectasia, Cirrhosis, Retinal telangiectasia, Esophageal varix,...	ORPHA:774
Li-Fraumeni Syndrome	Choriocarcinoma, Stomach cancer, Neoplasm of the gastrointestinal tract, Neoplasm of the rectum, ...	ORPHA:524
Microphthalmia, Syndromic 6	Renal hypoplasia, Anophthalmia, Microphthalmia	OMIM:607932
Bartsocas-Papas Syndrome 1	Anal stenosis, Underdeveloped nasal alae, Intrauterine growth retardation, Decreased fetal moveme...	OMIM:263650
Robinow Syndrome, Autosomal Dominant 1	Wide nasal bridge, Depressed nasal bridge, Rhizomelia, Narrow palate, Frontal bossing, Anteverted...	OMIM:180700
Cleidocranial Dysplasia	High, narrow palate, Depressed nasal bridge, Brachycephaly, Short stature, Glossoptosis, Frontal ...	ORPHA:1452
Progressive Non-Infectious Anterior Vertebral Fusion	Wide nasal bridge, Depressed nasal bridge, Abdominal situs inversus, Tall stature, Brachycephaly	ORPHA:2062
Molybdenum Cofactor Deficiency, Type A	Hypouricemia, Growth delay, Short nose, Frontal bossing	OMIM:252150
Faundes-Banka Syndrome	Fetal ascites, Plagiocephaly, Gastroesophageal reflux, Failure to thrive, Underdeveloped nasal al...	OMIM:619376
Pallister-Hall Syndrome	Choanal atresia, Depressed nasal ridge, Bifid uvula, Microglossia, Atrioventricular canal defect,...	ORPHA:672
Branchiooculofacial Syndrome	Renal agenesis, Anophthalmia, Renal cyst, Microphthalmia, Hypospadias	OMIM:113620
Craniofrontonasal Syndrome	Wide nasal bridge, Bifid nasal tip, Coronal craniosynostosis, Hypoplastic nasal tip, Brachycephal...	OMIM:304110
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Choanal atresia, Depressed nasal bridge, Anteriorly placed anus, Frontal bossing, Oligohydramnios...	OMIM:201750
Autosomal Dominant Robinow Syndrome	Severe short stature, Wide nasal bridge, Depressed nasal bridge, High, narrow palate, Anteverted ...	ORPHA:3107
Renpenning Syndrome 1	Wide nasal bridge, Tetralogy of Fallot, Bulbous nose, Situs inversus totalis, Ventricular septal ...	OMIM:309500
Doors Syndrome	Wide nasal base, Wide nasal bridge, Narrow palate, Broad nasal tip, Abnormal placental membrane m...	ORPHA:79500
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Wide nasal bridge, Anteverted nares, Brachycephaly, Chordee, Short stature, Frontal bossing	OMIM:616728
Treacher-Collins Syndrome	Wide nasal bridge, Choanal atresia, Failure to thrive, Glossoptosis, Hypoplasia of the thymus, Br...	ORPHA:861
Telangiectasia, Hereditary Hemorrhagic, Type 1	Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Gastroin...	OMIM:187300
Arthrogryposis, Distal, Type 4	Depressed nasal bridge, Cranial asymmetry	OMIM:609128
Angelman Syndrome	Obesity, Protruding tongue, Brachycephaly, Macroglossia, Flat occiput	OMIM:105830
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Wide nasal bridge, Broad nasal tip, Bulbous nose, Intrauterine growth retardation, Anteverted nar...	OMIM:619522
Leukocyte Adhesion Deficiency, Type I	Delayed umbilical cord separation, Leukocytosis, Neonatal omphalitis, Rectal abscess, Elevated ci...	OMIM:116920
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Wide nasal bridge, Bifid uvula, Broad nasal tip, Plagiocephaly, Gastroesophageal reflux, Atrioven...	OMIM:619480
Spondylocarpotarsal Synostosis Syndrome	Broad nasal tip, Anteverted nares, Disproportionate short-trunk short stature, Cleft palate, Plat...	OMIM:272460
Abnormal Hair, Joint Laxity, And Developmental Delay	Tricuspid regurgitation, Plagiocephaly, Mitral regurgitation, Sinus bradycardia	OMIM:261990
Wiedemann-Rautenstrauch Syndrome	Failure to thrive, Frontal bossing, Congenital malformation of the left heart, Slender build, Int...	ORPHA:3455
Carney Complex	Abnormal sperm motility, Tongue nodules, Congestive heart failure, Tall stature, Paranasal sinus ...	ORPHA:1359
Osteogenesis Imperfecta	Aortic regurgitation, Rhizomelia, Intrauterine growth retardation, Prominent occiput, Mitral valv...	ORPHA:666
Atelosteogenesis Type Ii	Wide nasal base, Rhizomelia, Plagiocephaly, Rhizomelic arm shortening, Bilateral cleft palate, Po...	ORPHA:56304
X-Linked Intellectual Disability, Snyder Type	Bulbous nose, Anteverted nares, Prominent nasal bridge, Brachycephaly, Short stature, Cerebral ed...	ORPHA:3063
Frontofacionasal Dysplasia	Bifid uvula, Hypoplasia of the frontal bone, Underdeveloped nasal alae, Midline defect of the nos...	OMIM:229400
Plague	Hypotension, Inflammation of the large intestine, Lymphadenitis, Enlarged mesenteric lymph node, ...	ORPHA:707
Acromesomelic Dysplasia 1	Disproportionate short-limb short stature, Short nose, Frontal bossing	OMIM:602875
Agammaglobulinemia 1, Autosomal Recessive	Failure to thrive, Recurrent sinusitis, B lymphocytopenia, Neutropenia, Rectal abscess	OMIM:601495
Gorlin Syndrome	Wide nasal bridge, Abnormality of the sense of smell, Cardiac fibroma, Hypogonadotropic hypogonad...	ORPHA:377
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Wide nasal bridge, Total anomalous pulmonary venous return, Parietal foramina, Atrial septal defe...	OMIM:609945
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Wide nasal bridge, High, narrow palate, Broad nasal tip, Gastroesophageal reflux, Failure to thri...	OMIM:619950
X-Linked Intellectual Disability, Wilson Type	Brachycephaly, Growth delay	ORPHA:85290
Congenital Disorder Of Deglycosylation 1	Hepatic fibrosis, Oral-pharyngeal dysphagia, Anteverted nares, Decreased body weight, Brachycepha...	OMIM:615273
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Brachycephaly, Prominent nose, High palate	OMIM:619244
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De...	ORPHA:99125
Trisomy 9P	Brachycephaly, Abnormal nasal morphology	ORPHA:236
Adnp Syndrome	Depressed nasal bridge, Recurrent upper respiratory tract infections, Plagiocephaly, Gastroesopha...	ORPHA:404448
Femoral-Facial Syndrome	Gastroesophageal reflux, Underdeveloped nasal alae, Truncus arteriosus, Ventricular septal defect...	OMIM:134780
Humeroradial Synostosis	Wide nasal bridge, Brachycephaly	OMIM:236400
Pallister-Killian Syndrome	Aortic valve stenosis, Ventricular septal defect, Atrial septal defect, Anal atresia, Short nose,...	OMIM:601803
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	High palate, Plagiocephaly, Gastroesophageal reflux	OMIM:616579
Aica-Ribosiduria	Brachycephaly	ORPHA:250977
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Plagiocephaly, Gastroesophageal reflux, Failure to thrive, Narrow nasal ridge, Short stature, Hig...	OMIM:620083
Sponastrime Dysplasia	Depressed nasal bridge, Rhizomelia, Disproportionate short-limb short stature, Intrauterine growt...	ORPHA:93357
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Brachycephaly	OMIM:616083
Coffin-Siris Syndrome 1	Choanal atresia, Depressed nasal bridge, Broad nasal tip, Plagiocephaly, Tetralogy of Fallot, Pos...	OMIM:135900
Chromosome 1P36 Deletion Syndrome, Distal	Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, High palate, Dysphagia, D...	OMIM:607872
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Wide nasal bridge, Plagiocephaly, Secundum atrial septal defect, Failure to thrive, Anteverted na...	OMIM:620455
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Postnatal growth retardation, High palate, Plagiocephaly, Flat occiput	ORPHA:300570
Wiedemann-Rautenstrauch Syndrome	Depressed nasal bridge, Secundum atrial septal defect, Failure to thrive, Narrow nose, Intrauteri...	OMIM:264090
Roberts Syndrome	Underdeveloped nasal alae, Postnatal growth retardation, Brachycephaly, Thrombocytopenia, Severe ...	ORPHA:3103
Neurofaciodigitorenal Syndrome	Plagiocephaly, Intrauterine growth retardation, Prominent nasal bridge, Brachycephaly, Short stature	ORPHA:2673
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Renal agenesis, Vesicoureteral reflux, Anophthalmia, Ureteropelvic ...	OMIM:164210
X-Linked Intellectual Disability, Armfield Type	Depressed nasal bridge, Brachycephaly, Abnormal cardiac septum morphology, Short stature, Cleft p...	ORPHA:85276
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Depressed nasal bridge, Atrioventricular canal defect, Polyhydramnios, Splenomegaly, Aplasia of t...	OMIM:617088
Aspartylglucosaminuria	Depressed nasal bridge, Macroglossia, Anteverted nares, Mitral regurgitation, Thickened calvaria,...	OMIM:208400
Genitourinary And/Or Brain Malformation Syndrome	Ileal atresia, Streak ovary, Aplasia of the nasal bone, Jejunal atresia, Chordee, Acrania, Short ...	OMIM:618820
Intellectual Developmental Disorder, Autosomal Dominant 29	Narrow palate, Ankyloglossia, Obesity, Brachycephaly, High palate, Frontal bossing, Wide nose	OMIM:616078
Trichorhinophalangeal Syndrome, Type Ii	Wide nasal bridge, Recurrent upper respiratory tract infections, Plagiocephaly, Gastroesophageal ...	OMIM:150230
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Coronal craniosynostosis, Plagiocephaly, Parietal foramina, Brachycephaly, Ectopic anus, Anal atr...	ORPHA:85199
Temtamy Preaxial Brachydactyly Syndrome	Plagiocephaly, Cleft palate	OMIM:605282
Skin Creases, Congenital Symmetric Circumferential, 1	Depressed nasal bridge, Brachycephaly, Cleft palate, High palate	OMIM:156610
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Broad nasal tip, Plagiocephaly, Wide nose, Asymmetry of the nares, Craniosynostosis, High palate,...	ORPHA:1521
Osteogenesis Imperfecta, Type Xi	Short stature, Brachycephaly	OMIM:610968
Acromelic Frontonasal Dysostosis	Wide nasal bridge, Bifid nasal tip, Broad nasal tip, Parietal foramina, Midline defect of the nos...	OMIM:603671
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Short nose, Narrow naris	OMIM:122880
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Polyhydramnios, Anteverted nares, Broad nasal tip, Plagiocephaly	OMIM:618548
Acrofrontofacionasal Dysostosis 1	Short stature, Brachycephaly, Cleft palate, Wide nasal bridge	OMIM:201180
Joubert Syndrome 1	Hepatic fibrosis, Plagiocephaly, Anteverted nares, Protruding tongue, Macroglossia	OMIM:213300
Noonan Syndrome	Juvenile myelomonocytic leukemia, Abnormal EKG, Hypertrophic cardiomyopathy, Postnatal growth ret...	ORPHA:648
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Depressed nasal bridge, Underdeveloped nasal alae, Rhinitis, Frontal bossing, Short nose	OMIM:305100
Polymerase Proofreading-Related Adenomatous Polyposis	Adenocarcinoma of the colon, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic po...	ORPHA:447877
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Wide nasal bridge, Stillbirth, Underdeveloped nasal alae, Narrow naris, Postnat...	OMIM:268300
Malakoplakia	Abnormality of the menstrual cycle, Neoplasm of the colon, Follicular hyperplasia, Orchitis, Neop...	ORPHA:556
Developmental And Epileptic Encephalopathy 84	Plagiocephaly	OMIM:618792
Kbg Syndrome	Underdeveloped nasal alae, Anteverted nares, Prominent nasal bridge, Brachycephaly, Short stature	OMIM:148050
Peroxisome Biogenesis Disorder 4B	Hepatomegaly, Short nose	OMIM:614863
Elsahy-Waters Syndrome	Wide nasal bridge, Bifid nasal tip, Bifid uvula, Anal stenosis, Anteriorly placed anus, Bulbous n...	OMIM:211380
Achard Syndrome	Brachycephaly, Broad skull	OMIM:100700
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Depressed nasal ridge, Depressed nasal bridge, Disproportionate short-limb short stature, Enlarge...	OMIM:271665
Cree Impaired Intellectual Development Syndrome	Brachycephaly, Cleft soft palate	OMIM:606851
Duane Retraction Syndrome	Wide nasal bridge, Plagiocephaly, Anteverted nares, Anorectal anomaly, Cleft palate	ORPHA:233
Branchioskeletogenital Syndrome	Depressed nasal bridge, Bifid uvula, Broad nasal tip, Anteriorly placed anus, Blepharochalasis, S...	ORPHA:1299
Linear Nevus Sebaceus Syndrome	Plagiocephaly, Frontal bossing, Prominent occiput, Biparietal narrowing, Growth delay	ORPHA:2612
Aspartylglucosaminuria	Wide nasal bridge, Splenomegaly, Thickened calvaria, Hepatomegaly, Macroglossia, Short nose	ORPHA:93
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Wide nasal bridge, Depressed nasal ridge, Brachycephaly, Flat occiput	ORPHA:2211
Menke-Hennekam Syndrome 1	Depressed nasal ridge, Recurrent upper respiratory tract infections, Depressed nasal bridge, Gast...	OMIM:618332
Arthrogryposis And Ectodermal Dysplasia	Short stature, Brachycephaly, Cleft palate	OMIM:601701
Aicardi Syndrome	Plagiocephaly, Gastroesophageal reflux, Intestinal polyposis, Hiatus hernia, Hepatoblastoma, Dela...	ORPHA:50
1P21.3 Microdeletion Syndrome	Obesity, Broad nasal tip, Short nose	ORPHA:293948
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Pancreatic adenocarcinoma, Duodenal adenocarcinoma, Neoplasm of the rectum, Adenomatous colonic p...	ORPHA:454840
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Wide nasal bridge, Brachycephaly	ORPHA:521445
Cleidocranial Dysplasia 2	Plagiocephaly, Failure to thrive	OMIM:620099
Congenital Myopathy 13	Short stature, Brachycephaly, Cleft palate, High palate	OMIM:255995
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Short stature, Anemia, Plagiocephaly, Hypogonadism	ORPHA:3042
Mismatch Repair Cancer Syndrome 3	Neoplasm of the rectum, Colon cancer	OMIM:619097
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Depressed nasal bridge, Bulbous nose, Brachycephaly, Short stature, Wide nose	OMIM:610442
6Q Terminal Deletion Syndrome	High, narrow palate, Plagiocephaly, Failure to thrive, Obesity, Dolichocephaly	ORPHA:75857
Primrose Syndrome	Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Anteverted nares, Brachycephaly, Dela...	OMIM:259050
Congenital Fibrosis Of Extraocular Muscles	Hypogonadotropic hypogonadism, Plagiocephaly	ORPHA:45358
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Brachycephaly, Frontal bossing	ORPHA:1236
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Brachycephaly	ORPHA:2988
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Anteverted nares, Plagiocephaly	ORPHA:457284
Sacral Defect With Anterior Meningocele	Hydromyelia, Rectal abscess	OMIM:600145

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 Rit1

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 Rit1.

No publications found that use IMPC mice or data for Rit1.

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MGI Allele	Allele Type	Produced
Rit1^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Rit1^{tm88431(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Rit1 MGI:108053

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Rit1 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 21.1 Data