Gene Summary

Name:
Ras-like without CAAX 1
Synonyms:
Rit

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased mean platelet volume Rit1em1(IMPC)Mbp HOM Early adult 2.35×10-11
increased red blood cell distribution width Rit1em1(IMPC)Mbp HOM Early adult 8.09×10-05
abnormal kidney morphology Rit1em1(IMPC)Mbp HOM Early adult 0.00
enlarged kidney Rit1em1(IMPC)Mbp HOM Early adult 0.00
increased circulating alkaline phosphatase level Rit1em1(IMPC)Mbp HOM Early adult 1.40×10-09
increased circulating aspartate transaminase level Rit1em1(IMPC)Mbp HOM Early adult 3.75×10-05
anophthalmia Rit1em1(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 Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Increased circulati... ORPHA:766
Pentosuria
Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o... ORPHA:2843
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... OMIM:187800
Iron-Refractory Iron Deficiency Anemia
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... OMIM:206200
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg... OMIM:615285
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hydrops fetalis, Anemia, Intrauterine growth retardation, Hypertro... ORPHA:295
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... OMIM:314050
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Infantile Sialic Acid Storage Disease
Hepatomegaly, Anteverted nares, Premature birth, Cardiomegaly, Conjugated hyperbilirubinemia, Spl... OMIM:269920
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Hydrops ... OMIM:613673
Mulibrey Nanism
Hepatomegaly, Frontal bossing, Wide nose, Depressed nasal bridge, Short stature, Cardiomegaly, Co... OMIM:253250
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concent... OMIM:616860
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Myh9-Related Disease
Renal insufficiency, Proteinuria, Increased mean platelet volume, Giant platelets, Neutrophil inc... ORPHA:182050
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Abnormality of the kidney, Giant platelets, Macrothrombocytopenia, Ne... OMIM:155100
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... OMIM:613496
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Transaldolase Deficiency
Edema, Hydrops fetalis, Hepatosplenomegaly, Anemia, Biventricular hypertrophy, Telangiectasia, Ab... ORPHA:101028
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Refractory anemia, Frontal bossing, Depressed nasal bridge, Short st... ORPHA:79076
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poiki... OMIM:615631
Peutz-Jeghers Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... ORPHA:2869
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Congenital Heart Block
Premature birth, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Conges... ORPHA:60041
Solitary Rectal Ulcer Syndrome
Anal fissure, Rectal prolapse, Hematochezia, Anemia, Decreased body weight, Abnormality of body h... ORPHA:209964
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Nonimmune hydrops fetalis, Splenomegaly, Cardiomyopathy, Abnormality of the amnioti... OMIM:608540
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Hydrops fetalis, C... ORPHA:2414
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Polyhydramnios, Fetal ascites, Splenomegaly, Hydrops fetalis, Fetal pericardial eff... OMIM:619462
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Decreased fetal movement, Anteverted nares, Depressed nasal bridge, F... ORPHA:85212
Hydrops Fetalis, Nonimmune
Congestive heart failure, Hydrops fetalis, Nonimmune hydrops fetalis, Anemia OMIM:236750
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Edema, Microcytic anemia, Abnormality of the menstrual... ORPHA:90308
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Congestive heart f... ORPHA:163596
Hydrops Fetalis
Abnormality of the gastrointestinal tract, Small for gestational age, Nonimmune hydrops fetalis, ... ORPHA:1041
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Overriding aorta, ... OMIM:617021
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Splenomegaly, Elevated circulating sitosterol conce... OMIM:210250
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Hemoglobinuria, Unconjugated hyperbili... OMIM:300908
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio... OMIM:618052
Glycogen Storage Disease Iv
Decreased fetal movement, Failure to thrive, Portal hypertension, Edema, Polyhydramnios, Esophage... OMIM:232500
Indomethacin Embryofetopathy
Ventricular septal defect, Premature birth, Hydrops fetalis, Cardiomyopathy, Atrial septal defect... ORPHA:1909
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Pulmonary insufficiency, Tricuspid regurgitation, Hydrops fetalis, Pulmonic stenosi... OMIM:619433
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Mild postnatal growth retardation, Lymphedema, Periorbital edema, Rectal prolapse, Protein-losing... OMIM:235510
Mitochondrial Complex I Deficiency, Nuclear Type 35
Hyperalaninemia, Nonimmune hydrops fetalis, Hyperprolinemia, Cardiomyopathy, Neonatal death, Pulm... OMIM:619003
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo... OMIM:231200
Neuraminidase Deficiency
Hepatomegaly, Short stature, Bone-marrow foam cells, Cardiomegaly, Facial edema, Splenomegaly, Va... OMIM:256550
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Small for gestational age, Ventricular septal defect, Anteverted nares, Cardiomegaly, Polyhydramn... OMIM:616897
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational age, Hydrops fetalis, A... ORPHA:45452
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... OMIM:617443
Hepatorenocardiac Degenerative Fibrosis
Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib... OMIM:619902
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Intestinal atresia, Single umbilical ... ORPHA:3405
Meckel Syndrome, Type 8
Anophthalmia, Polycystic kidney dysplasia, Microphthalmia, Hyperechogenic kidneys, Enlarged kidney OMIM:613885
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Short stature, Polyhydramnios, Splenomegaly, Hydrops fetalis ORPHA:2204
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... OMIM:602088
Congenital Enterovirus Infection
Fetal ascites, Polyhydramnios, Hydrops fetalis, Leukopenia, Hypoalbuminemia, Neutropenia, Prematu... ORPHA:292
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Fetal akinesia sequence, Cryptorchidism, Dilated cardiomyopathy, Hydrops fetalis, Bradycardia, Hy... OMIM:618815
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectum, Neoplasm of the liver, I... ORPHA:424019
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Gm1-Gangliosidosis, Type I
Hepatomegaly, Frontal bossing, Severe short stature, Abnormal heart valve morphology, Splenomegal... OMIM:230500
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Hydronephrosis, Increased mean platelet volume OMIM:300048
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... ORPHA:98870
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Hypokalemia, Col... OMIM:174900
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong... OMIM:604765
Nuchal Bleb, Familial
Stillbirth, Fetal cystic hygroma, Hydrops fetalis OMIM:257350
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... OMIM:153670
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Nonimmune hydrops fetalis, Portal hypertension, Polyhydramnios, Fetal akinesia sequ... ORPHA:367
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Myocardial infarction, Intestinal perforation, Thrombocytopenia, R... ORPHA:90038
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... OMIM:613092
Achondrogenesis Type 1B
Thickened nuchal skin fold, Frontal bossing, Severe short stature, Anteverted nares, Polyhydramni... ORPHA:93298
Combined Oxidative Phosphorylation Deficiency 42
Premature birth, Elevated circulating creatine kinase concentration, Nonimmune hydrops fetalis, C... OMIM:618839
Rh Deficiency Syndrome
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytosis, Hepatosplenome... ORPHA:71275
Achondrogenesis
Thickened nuchal skin fold, Frontal bossing, Severe short stature, Anteverted nares, Polyhydramni... ORPHA:932
Combined Oxidative Phosphorylation Deficiency 40
Premature birth, Elevated circulating creatine kinase concentration, Nonimmune hydrops fetalis, N... OMIM:618835
Orotic Aciduria
Orotic acid crystalluria, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Combined Oxidative Phosphorylation Deficiency 41
Premature birth, Elevated circulating creatine kinase concentration, Nonimmune hydrops fetalis, C... OMIM:618838
Restrictive Dermopathy 2
Decreased fetal movement, Fetal distress, Rectal prolapse, Gastroesophageal reflux, Intrauterine ... OMIM:619793
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Premature birth, Hypercalcemia, Polyhydramnios, Hydrops fetalis, Anemia, Ascites, T... ORPHA:2123
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Sialidosis Type 2
Hepatomegaly, Short stature, Splenomegaly, Hydrops fetalis, Pedal edema, Ascites ORPHA:87876
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Overriding aorta, Depressed nasal bridge, Ventricular septal defect, Broad nasal ... OMIM:601927
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Anisocytosis, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic a... OMIM:604273
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Decreased fetal movement, Anteverted nares, Depressed nasal bridge, Polyhydramnios,... OMIM:608013
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:613313
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Frontal bossing, Abnormal erythrocyte morphology, Splenomegaly... ORPHA:288
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Nonimmune hydro... OMIM:619313
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Anteverted nares, Nonimmune hydrops fetalis, Polyhydramnios OMIM:613124
Burn-Mckeown Syndrome
Short stature, Prominent nasal bridge, Wide nasal bridge, Abnormal cardiac septum morphology, Sho... ORPHA:1200
Gm1 Gangliosidosis
Frontal bossing, Ventricular septal defect, Depressed nasal bridge, Short stature, Broad nasal ti... ORPHA:354
Achondrogenesis Type 1A
Thickened nuchal skin fold, Frontal bossing, Severe short stature, Anteverted nares, Polyhydramni... ORPHA:93299
Mitochondrial Trifunctional Protein Deficiency 1
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... OMIM:609015
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Periorbital edema, Pyloric stenosis, Rectal prolapse, Breech presentation, Wide... OMIM:613177
Cystic Fibrosis
Male infertility, Hepatomegaly, Nasal polyposis, Meconium ileus, Rectal prolapse, Ileus, Cor pulm... OMIM:219700
Chondrodysplasia, Blomstrand Type
Depressed nasal bridge, Premature birth, Polyhydramnios, Fetal ascites, Hydrops fetalis, Stillbirth OMIM:215045
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Nonimmune hydrops fetalis, Red... OMIM:266200
Blue Rubber Bleb Nevus
Rectal prolapse, Iron deficiency anemia, Intestinal bleeding, Abnormality of the liver, Volvulus,... OMIM:112200
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Small for gestational age, Ventricular septal defect, Craniosynostosis, Elevated ci... OMIM:301056
Non-Distal Duplication 10Q
Frontal bossing, Depressed nasal bridge, Short stature, Cryptorchidism, Brachycephaly, High palat... ORPHA:1695
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent... OMIM:602390
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... ORPHA:88618
Achondrogenesis, Type Ib
Polyhydramnios, Edema, Breech presentation, Hydrops fetalis, Stillbirth, Neonatal short-limb shor... OMIM:600972
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... ORPHA:85445
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Failure to thrive, Frontal bossing, Depressed nasal bridge, Decreased fetal movemen... OMIM:608776
17Q21.31 Microduplication Syndrome
Anteverted nares, High palate, Delayed puberty, Short nose, Failure to thrive ORPHA:217340
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Nasal polyposis, Bile duct polyp, Rectal prolapse, Biliary tract abnorm... OMIM:175200
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Long Qt Syndrome 3
Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy... OMIM:603830
Alg8-Cdg
Abnormality of the gastrointestinal tract, Hyponatremia, Small for gestational age, Premature bir... ORPHA:79325
Mitochondrial Complex I Deficiency, Nuclear Type 39
Small for gestational age, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect... OMIM:620135
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Fetal pericardial effusion,... OMIM:620014
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Polyhydramnios, Hypoplasia of the thymus, Leukocytosis, Hematochezia, Congenital p... OMIM:243150
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Short stature, Anteverted nares, Cleft palate ORPHA:2015
Developmental And Epileptic Encephalopathy 96
Small for gestational age, Hydrops fetalis OMIM:619340
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... OMIM:616959
Mosaic Trisomy 9
Ventricular septal defect, Intestinal malrotation, Dextrocardia, Abnormal heart valve morphology,... ORPHA:99776
Combined Oxidative Phosphorylation Deficiency 57
Small for gestational age, Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Nonimmu... OMIM:620167
Even-Plus Syndrome
Severe short stature, Bifid nasal tip, Depressed nasal ridge, Brachycephaly, High palate, Atrial ... OMIM:616854
Hemochromatosis, Neonatal
Nonimmune hydrops fetalis, Increased circulating ferritin concentration, Cholestasis, Hepatocellu... OMIM:231100
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Bernard-Soulier Syndrome
Partially duplicated kidney, Giant platelets, Macrothrombocytopenia, Decreased platelet glycoprot... ORPHA:274
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Achondrogenesis, Type Ii
Frontal bossing, Edema, Polyhydramnios, Disproportionate short-trunk short stature, Brachycephaly... OMIM:200610
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Hamartomatous polyposis, Multiple... ORPHA:251992
Congenital Amegakaryocytic Thrombocytopenia
Short stature, Abnormal hemoglobin, Anemia, Abnormal cardiac septum morphology, Thrombocytopenia ORPHA:3319
Johanson-Blizzard Syndrome
Short stature, Dextrocardia, Edema, Malabsorption, Underdeveloped nasal alae, Abnormality of the ... ORPHA:2315
Matthew-Wood Syndrome
Anophthalmia, Renal hypoplasia, Horseshoe kidney, Abnormal spleen morphology, Vesicoureteral refl... ORPHA:2470
Axin2-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Nephrotic syndrom... OMIM:617303
Osteogenesis Imperfecta, Type Ii
Small for gestational age, Premature birth, Nonimmune hydrops fetalis, Absent ossification of cal... OMIM:166210
Free Sialic Acid Storage Disease
Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Hydrops fetalis, Ascites ORPHA:834
Hemochromatosis, Type 1
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Increased circulating fe... OMIM:235200
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly, Fetal akinesia sequence, Hydrops fetal... OMIM:617022
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Ring Chromosome 8 Syndrome
Frontal bossing, Short nose, Anteverted nares, Polyhydramnios ORPHA:1450
Lymphatic Malformation 6
Genital edema, Short stature, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenom... OMIM:616843
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Short stature, Nonimmune hydrops fetalis, Craniosynostosis, Cleft palate, Plagiocephaly, Decrease... OMIM:618265
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... ORPHA:730
Dubowitz Syndrome
Anal stenosis, Depressed nasal bridge, Short stature, Abnormality of neutrophils, Malabsorption, ... ORPHA:235
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Hydrops fe... ORPHA:79329
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Intrauterine growth retardation, Short nose, Abnormal cardiac septum morphology, Short stature ORPHA:2370
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Increased blood urea nitrog... ORPHA:251004
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Leprechaunism
Hepatomegaly, Enlarged ovaries, Wide nose, Postnatal growth retardation, Rectal prolapse, Megarec... ORPHA:508
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Failure to thrive, Pancytopenia, Short stature, Elevated circulating C-reactive ... OMIM:616050
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Frontal bossing, Anteverted nares, Depressed nasal bridge, Short stature, Broad nasal tip, Polyhy... OMIM:617157
Alg9-Cdg
Villous atrophy, Brachycephaly, Hydrops fetalis, Right ventricular dilatation, Gastroesophageal r... ORPHA:79328
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Neonatal deat... OMIM:614096
Pearson Syndrome
Hydrops fetalis, Dehydration, Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steato... ORPHA:699
Trisomy 1Q
Frontal bossing, Wide nose, Ventricular septal defect, Depressed nasal bridge, Polyhydramnios, Cr... ORPHA:261344
Attrv122I Amyloidosis
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... ORPHA:85451
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Intestinal malrotation, Prominent nasal bridge, Cryptorchidism, Wide n... ORPHA:401935
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Frontal bossing, Wide nose, Anteverted nares, Small for gestational age, Depressed nasal bridge, ... OMIM:613320
Adenylosuccinate Lyase Deficiency
Short nose, Flat occiput, Anteverted nares, Brachycephaly ORPHA:46
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Aganglionic megacolon, Broad nasal tip, Wide nasal bridge, Cleft palate, Abnormal heart morpholog... OMIM:239300
Cirrhotic Cardiomyopathy
Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom... ORPHA:57777
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Thrombocytopenia, Giant platelets, L... OMIM:611209
Cranioectodermal Dysplasia 2
Cholangitis, Polyhydramnios, Hydrops fetalis, High palate, Atrial septal defect, Patent foramen o... OMIM:613610
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Short nose, Anteverted nares, Short stature ORPHA:1355
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Hydrops fetalis, Cleft palate, Hydrocele testis, Neutropenia, Congenital thromb... OMIM:616738
Trichohepatoenteric Syndrome 1
Hepatomegaly, Hypospadias, Increased mean platelet volume, Splenomegaly, Increased serum iron, Hy... OMIM:222470
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... OMIM:617300
Potocki-Shaffer Syndrome
Prominent nasal bridge, Broad nasal tip, Parietal foramina, Underdeveloped nasal alae, Brachyceph... ORPHA:52022
Lathosterolosis
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Horseshoe ki... OMIM:607330
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Pericard... ORPHA:77261
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Hepatomegaly, Renal insufficiency, Elevated circulating cr... OMIM:608836
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Villous atrophy, Pericarditis, Premature ovarian insufficiency, Hypergonadotropic h... OMIM:212065
Gm1 Gangliosidosis Type 1
Frontal bossing, Depressed nasal bridge, Broad nasal tip, Hydrops fetalis, Hepatosplenomegaly, Ma... ORPHA:79255
Fanconi Anemia, Complementation Group O
Short stature, Cryptorchidism, Rectal atresia, Abnormal heart morphology, Neonatal death, Anal at... OMIM:613390
Lymphatic Malformation 13
Atrial septal defect, Depressed nasal bridge, Nonimmune hydrops fetalis, Lymphedema, Fetal perica... OMIM:620244
Takenouchi-Kosaki Syndrome
Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Hydronephrosis, Thrombocy... OMIM:616737
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Brachycephaly, Atrial se... OMIM:265380
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, ... ORPHA:100025
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Short nose, Failure to thrive, Midface retrusion OMIM:618379
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
3C Syndrome
High, narrow palate, Gastroesophageal reflux, Abnormal tricuspid valve morphology, Atrial septal ... ORPHA:7
Fetal Trimethadione Syndrome
Ventricular septal defect, Depressed nasal bridge, Brachycephaly, High palate, Transposition of t... ORPHA:1913
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Villous atrophy, Hepatomegaly, Small for gestational age, Refractory sidero... OMIM:557000
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stool... OMIM:619868
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Williams Syndrome
Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Myocardial infarction,... ORPHA:904
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose, Small for gestational age, Short stature OMIM:245570
Trisomy 13
Ventricular septal defect, High, narrow palate, Cryptorchidism, Hydrops fetalis, Cleft palate, At... ORPHA:3378
Boomerang Dysplasia
Cryptorchidism, Severe short-limb dwarfism, Hydrops fetalis, Polyhydramnios ORPHA:1263
Intellectual Developmental Disorder, X-Linked 91
Short nose, High palate, Obesity OMIM:300577
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Small for gestational age, Cardiomegaly, Pericardial effusion, Oligohydramnios... OMIM:614702
Pierpont Syndrome
Wide nose, Short stature, Broad nasal tip, Cryptorchidism, Brachycephaly, Decreased body weight, ... OMIM:602342
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... OMIM:607685
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Pulmonary embolism, Jaundice, Di... ORPHA:79282
Diamond-Blackfan Anemia
Pure red cell aplasia, Reticulocytopenia, Leukopenia, High palate, Neutropenia, Adenocarcinoma of... ORPHA:124
Tyrosinemia, Type I
Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Elevated circulating alpha-fetoprotein conce... OMIM:276700
Achondrogenesis, Type Ia
Turricephaly, Hypoplastic nasal bridge, Anteverted nares, Depressed nasal bridge, Polyhydramnios,... OMIM:200600
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Abnormality of the ... ORPHA:69735
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilatation, Abn... ORPHA:563
9q subtelomeric deletion syndrome
Anteverted nares, Protruding tongue, Abnormal heart morphology, Short nose, Midface retrusion DECIPHER:52
Fibrochondrogenesis 1
Frontal bossing, Anteverted nares, Depressed nasal bridge, Rhizomelia, Hydrops fetalis, Cleft pal... OMIM:228520
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis, Cardiomegaly, Obesity, Colitis, Hypoalbuminemia ORPHA:88643
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Depressed nasal bridge, Choanal atresia, Short stature, Bilateral cryptorchidis... OMIM:619859
Hennekam Syndrome
Lymphopenia, Depressed nasal bridge, Mild postnatal growth retardation, Craniosynostosis, Malabso... ORPHA:2136
Acrocephalopolydactyly
Short nose, Oxycephaly, Depressed nasal ridge, Hepatosplenomegaly ORPHA:221054
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Short stature, Atrial septal defect, Pulmonary arterial hypertension, Sh... OMIM:300887
Trimethylaminuria
Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia OMIM:602079
Williams-Beuren Syndrome
Bicuspid aortic valve, Rectal prolapse, Gastroesophageal reflux, Atrial septal defect, Anteverted... OMIM:194050
Syndromic Diarrhea
Hepatomegaly, Increased mean platelet volume, Splenomegaly, Renal hypoplasia, Hypoplasia of the t... ORPHA:84064
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Decreased fetal movement, Edema, Thrombocytopenia, Cryptorchidism, Elevated circula... OMIM:608104
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Severe short stature, Abnormal heart valve morphology, Short stature, Postnatal gro... OMIM:253220
Congenital Toxoplasmosis
Hepatomegaly, Failure to thrive in infancy, Premature birth, Cardiomegaly, Thrombocytopenia, Jaun... ORPHA:858
Coffin-Lowry Syndrome
Wide nose, Anteverted nares, Short stature, Rectal prolapse, Narrow palate, Thick nasal septum, M... OMIM:303600
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Short stature, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia, Fa... ORPHA:172
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Cryptorchidism, Wide nasal bridge, Cleft palate, Abnormal heart morphology,... ORPHA:1865
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Aganglionic megacolon, Prominent nasal bridge, Bulbous no... OMIM:613870
Dermotrichic Syndrome
Frontal bossing, Depressed nasal bridge, Aganglionic megacolon, Proportionate short stature, Shor... ORPHA:99688
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Short nose, High palate, Depressed nasal bridge ORPHA:261120
Hemochromatosis, Type 3
Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Elevated transferrin... OMIM:604250
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse OMIM:176780
8P23.1 Microdeletion Syndrome
Short stature, Prominent nasal bridge, Cryptorchidism, Obesity, Wide nasal bridge, Weight loss, G... ORPHA:251071
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Hyperammonemia, Dehydration, Anemia, Cardiomyopathy, Neutropenia, Fai... ORPHA:79312
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... ORPHA:2041
Anencephaly 2
Anophthalmia OMIM:619452
Dehydrated Hereditary Stomatocytosis
Edema, Portal vein thrombosis, Polycythemia, Congenital hemolytic anemia, Abnormal blood potassiu... ORPHA:3202
Cebalid Syndrome
Turricephaly, Anteverted nares, Depressed nasal bridge, Platystencephaly, Brachycephaly, Depresse... OMIM:618774
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Decreased serum iron, Broad nasal tip, Overweight, Recurrent upper respiratory tract infections, ... ORPHA:391372
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Depressed nasal bridge, Short stature, Cryptorchidism, Bulbous nose, B... ORPHA:369891
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Short stature, Splenom... ORPHA:93476
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hydrops fetalis, Endocardial fibroelastosis OMIM:276822
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Short stature, Bone-... OMIM:607616
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Premature birth, Abnormal hemoglobin, Anemia of inadequate produ... ORPHA:2133
Diamond-Blackfan Anemia 8
Macrocytic anemia, Short stature, Wide nasal bridge, Growth delay, Increased mean corpuscular vol... OMIM:612563
Craniosynostosis, Herrmann-Opitz Type
Turricephaly, Short stature, Craniosynostosis, Brachycephaly, Cleft palate, Intrauterine growth r... ORPHA:2145
Glycogen Storage Disease Ib
Hepatomegaly, Proteinuria, Splenomegaly, Hyperlipidemia, Nephrolithiasis, Focal segmental glomeru... OMIM:232220
Schneckenbecken Dysplasia
Nonimmune hydrops fetalis, Polyhydramnios, Cleft palate, Stillbirth, Disproportionate short-limb ... OMIM:269250
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Edema, Splenomegaly, Jaundice, Increased circulating ferritin... OMIM:603552
Poikiloderma With Neutropenia
Frontal bossing, Depressed nasal bridge, Elevated circulating creatine kinase concentration, Shor... OMIM:604173
Baraitser-Winter Syndrome 1
Bicuspid aortic valve, Anteverted nares, Short stature, Postnatal growth retardation, Cryptorchid... OMIM:243310
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Trigonocephaly, Anteverted nares, Ventricular septal defect, Short nose OMIM:618506
Farber Disease
Intrahepatic cholestasis with episodic jaundice, Short stature, Thrombocytopenia, Recurrent upper... ORPHA:333
Perlman Syndrome
Hepatomegaly, Anteverted nares, Cryptorchidism, High, narrow palate, Abnormal pancreas morphology... ORPHA:2849
Roifman Syndrome
Hepatomegaly, Noncompaction cardiomyopathy, Ventricular septal defect, Eosinophilia, Anteverted n... OMIM:616651
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Frontal bossing, Ventricular septal defect, Small for gestational age, Cran... OMIM:614114
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Small for gestational age, Ventricular septal defect, Depressed nasal... OMIM:606003
Potocki-Shaffer Syndrome
Turricephaly, Underdeveloped nasal alae, Parietal foramina, Wide nasal bridge, Brachycephaly, Sho... OMIM:601224
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis, Dysphagia ORPHA:477774
Lymphangiectasia, Pulmonary, Congenital
Depressed nasal bridge, Mild postnatal growth retardation, Edema, Polyhydramnios, Facial edema, N... OMIM:265300
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Congestiv... ORPHA:615
Macrocephaly/Autism Syndrome
Hepatomegaly, Frontal bossing, Depressed nasal bridge, Large for gestational age, Splenomegaly, O... OMIM:605309
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Eosinophilia, Allergic rhinitis, Malabsorption, Elevat... ORPHA:2070
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Cardiomegaly, Dextrotransposition of the great arteries, Abnormality of blood circ... ORPHA:860
Clark-Baraitser Syndrome
Anteverted nares, Depressed nasal bridge, Brachycephaly, Obesity, High palate, Dolichocephaly, Sh... OMIM:617752
Hemochromatosis, Type 4
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Card... OMIM:606069
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Recurrent upper... OMIM:613101
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Frontal bossing, Brachycephaly, Mitral valve prolapse, Mitral regurgitation, High palate, Short n... OMIM:615539
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Depressed nasal bridge... ORPHA:284169
Campomelia, Cumming Type
Hepatomegaly, Lymphedema, Pancreatic cysts, Abnormality of the pancreas, Hydrops fetalis, Cleft p... ORPHA:1318
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Flat occiput, Anteverted nares, Protruding tongue, Cryptorchidism, Obesity,... ORPHA:96147
Fatty Acyl-Coa Reductase 1 Deficiency
Growth delay, Short nose, Depressed nasal bridge, Short stature ORPHA:438178
Autoimmune Lymphoproliferative Syndrome
Hydrops fetalis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negat... ORPHA:3261
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, Hepatic fibrosis, Failure to thr... OMIM:614480
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Frontal bossing, Anteverted nares, Rhizomelia, Depressed nasal ridge, Weight loss, ... ORPHA:1842
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomegaly, Leukocytosis, Hepato... OMIM:618278
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Biliary tract a... ORPHA:79301
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... ORPHA:3092
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Frontal bossing, Hypoplastic nasal bridge, Ventricular septal d... OMIM:609942
Congenital Myopathy 1B, Autosomal Recessive
Decreased fetal movement, High palate, Hydrops fetalis, Polyhydramnios OMIM:255320
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Short nose, Failure to thrive in infancy, Obesity, Broad nasal tip OMIM:613670
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
16P12.1P12.3 Triplication Syndrome
Tachycardia, Bilateral cryptorchidism, High, narrow palate, Bulbous nose, Abnormal heart morpholo... ORPHA:485405
Al Amyloidosis
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Xerostomia, Abnormality of th... ORPHA:85443
17P13.3 Microduplication Syndrome
Frontal bossing, Wide nose, High palate, Short nose, Tall stature ORPHA:217385
Greenberg Dysplasia
Hepatomegaly, Depressed nasal bridge, Rhizomelia, Polyhydramnios, Nonimmune hydrops fetalis, Echo... OMIM:215140
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Intestinal obstruction, Edema, Malabsorption, Pulmonary embolism, Growth delay, Iro... OMIM:226300
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl... OMIM:618963
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Unilateral cryptorchidism, Abnormal pulmonary valve morphology, Large for gestational age, Broad ... ORPHA:137634
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomegaly, Hepatomegaly, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomyopathy, A... ORPHA:465508
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Anteverted nares, Short stature, Cryptorchidism, Pulmonic stenosis, Hypertrophic cardiomyopathy, ... ORPHA:2701
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Impotence, Arrhythmia ORPHA:85447
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Anteverted nares, Short stature, Perimembranous ventricular septal defect, High palate, Transposi... OMIM:617877
Galactosialidosis
Conjunctival telangiectasia, Severe short stature, Nonimmune hydrops fetalis, Hepatosplenomegaly,... OMIM:256540
Gray Platelet Syndrome
Splenomegaly, Epistaxis, Thrombocytopenia, Abnormality of the menstrual cycle ORPHA:721
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Microvesicular he... OMIM:212140
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Dysmenorrhea, Elevated circulating creatine kinase concentration, Increased body weight, Hepatic ... ORPHA:264580
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Anteverted nares, Cryptorchidism, Unilambdoid synostosis, Brachycephaly, Wide nasal bridge, Plagi... OMIM:618577
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Frontal bossing, Anteverted nares, Short stature, Bulbous nose, Wide nasal bridge, Growth delay, ... OMIM:613604
Microcephaly-Capillary Malformation Syndrome
Wide nose, Small for gestational age, Ventricular septal defect, Short stature, Cleft palate, Atr... OMIM:614261
Lethal Osteosclerotic Bone Dysplasia
Anteverted nares, Depressed nasal ridge, Intrauterine growth retardation, Short nose, Median clef... ORPHA:1832
Gaucher Disease
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Abnormal... ORPHA:355
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis, Anemia OMIM:617408
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hepatomegaly, Depressed nasal bridge, Anemia of i... ORPHA:231214
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Frontal bossing, Failure to thrive in infancy, Cardiomegaly, Hyperprolinemia, Pulmo... OMIM:619064
Verheij Syndrome
Ventricular septal defect, Small for gestational age, Anteverted nares, Broad nasal tip, Short st... OMIM:615583
Capillary Malformation-Arteriovenous Malformation
Epistaxis, Nonimmune hydrops fetalis, Lymphedema, High-output congestive heart failure, Congestiv... ORPHA:137667
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Narrow nasal bridge, Hepatomegaly, Flat occiput, Anteverted nares, Wide nasal bridge, Plagiocepha... OMIM:619383
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, H... OMIM:232200
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... ORPHA:848
Mitochondrial Myopathy And Sideroblastic Anemia
Short nose, High palate, Anemia, Delayed puberty ORPHA:2598
Takayasu Arteritis
Abnormal endocardium morphology, Hypertensive crisis, Abnormal heart valve morphology, Myocardial... ORPHA:3287
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectu... ORPHA:424016
Macrocephaly-Intellectual Disability-Autism Syndrome
Intestinal polyposis, Frontal bossing, Depressed nasal bridge, Lymphoid nodular hyperplasia, Shor... ORPHA:210548
Cardiac Valvular Dysplasia 1
Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ... OMIM:212093
Teebi Hypertelorism Syndrome 1
Frontal bossing, Ventricular septal defect, Anteverted nares, Sagittal craniosynostosis, Depresse... OMIM:145420
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Hepatomegaly, Cystic renal dysplasia, Enlarged kidney OMIM:615415
Mosaic Variegated Aneuploidy Syndrome 1
Wide nose, Small for gestational age, Anteverted nares, Depressed nasal bridge, Short stature, Po... OMIM:257300
Rhiny
Short nose, Anteverted nares OMIM:180360
Platyspondylic Dysplasia, Torrance Type
Depressed nasal bridge, Polyhydramnios, Hydrops fetalis, Cleft palate, Disproportionate short-lim... ORPHA:85166
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:615234
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Prolidase Deficiency
Hepatomegaly, Depressed nasal bridge, Thrombocytopenia, Splenomegaly, Diffuse telangiectasia, Con... OMIM:170100
Yunis-Varon Syndrome
Polyhydramnios, Cardiomegaly, Abnormal occipital bone morphology, High, narrow palate, Hydrops fe... ORPHA:3472
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Postnatal growth retardation, Cryptorchidism, Brachycephaly, Gastroesophageal reflu... OMIM:615419
Cat Eye Syndrome
Anal stenosis, Ventricular septal defect, Intestinal malrotation, Short stature, Rectal fistula, ... OMIM:115470
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Mesenteric cyst, Ventricular septal defect, Intestinal malrotation, Parachute mitral valve, Promi... OMIM:618316
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Abnormal circulating porphyrin concentration, Sp... ORPHA:79277
Walker-Warburg Syndrome
Anophthalmia, Microphthalmia, Hypoplasia of penis, Abnormal circulating creatine kinase concentra... ORPHA:899
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, ... OMIM:620010
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Nonimmune hydrops fetalis, Elevated circulating alpha-fetoprotein concentratio... OMIM:617049
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Wide nose, Short stature, Elevated circulating creatine kinase concentration, Protr... OMIM:608779
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Prominent nasal bridge, Nonimmune hydrops fetalis, Lymphedema, Long nose, Pulmon... OMIM:137940
Periventricular Nodular Heterotopia 7
Ventricular septal defect, Anteverted nares, Cryptorchidism, Cleft palate, Dolichocephaly, Short ... OMIM:617201
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Bilateral fetal pyelectasis, Anteverted nares, Depressed nasal bridge, Polyhydramni... OMIM:300868
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Thrombocytopenia, Hepatosplenomegaly, Anemia, Ne... ORPHA:505248
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Lymphadenitis, Leukocytosis, Sp... OMIM:615895
Cerebrooculonasal Syndrome
Hypoplasia of penis, Anophthalmia ORPHA:66625
Baller-Gerold Syndrome
Narrow nasal bridge, Frontal bossing, Failure to thrive in infancy, Prominent nasal bridge, Short... ORPHA:1225
Microphthalmia, Syndromic 9
Renal malrotation, Anophthalmia, Bilateral microphthalmos, Renal hypoplasia, Horseshoe kidney, Mu... OMIM:601186
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short stature, Growth delay, Gastroesophageal reflux, Intrauterine growth retardation, Short nose ORPHA:1495
Kaposiform Lymphangiomatosis
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Anemia, Abnormal spleen morphology, Multiple ... ORPHA:464329
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Edema, Abnormal small intestinal villus morphology, Hypoalbuminemia, Hypocal... ORPHA:90362
Glutamine Deficiency, Congenital
Hypoglutaminemia, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Hyperammonemia, Br... OMIM:610015
Neonatal Lupus Erythematosus
Prolonged QT interval, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Heart block... ORPHA:398124
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal stenosis, Aganglionic megacolon, Broad nasal tip, Wide nasal bridge, Cleft palate, Plagiocep... OMIM:614749
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Port... ORPHA:64743
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Short stature, Conjugat... OMIM:211600
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Hepatomegaly, Decreased hemoglobin concentration, Frontal bossing, Anteverted nares, Depressed na... OMIM:619005
Maxillonasal Dysplasia
Depressed nasal bridge, Depressed nasal ridge, Cleft palate, Short columella, Abnormal nostril mo... ORPHA:1248
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Hypoplasia of penis, Anophthalmia, Hypospadias ORPHA:77298
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney OMIM:608022
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short stature, Short uvula, Hydrops fetalis, Cleft palate, High palate, Hepatic fibrosis, Dolicho... OMIM:614091
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Turricephaly, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Cryptorchidism, Brachyc... ORPHA:171839
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Cardiomyopathy, Hyper... OMIM:619046
Classical Ehlers-Danlos Syndrome
Orthostatic hypotension, Premature birth, Hiatus hernia, Rectal prolapse, Arterial rupture, Mitra... ORPHA:287
H Syndrome
Hypertriglyceridemia, Abnormality of the kidney, Microcytic anemia, Hepatosplenomegaly, Micropeni... ORPHA:168569
Microphthalmia, Syndromic 5
Microphthalmia, Micropenis, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... OMIM:237800
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... ORPHA:93598
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Ventri... OMIM:263520
Cystic Fibrosis
Nasal polyposis, Meconium ileus, Malabsorption, Rectal prolapse, Abnormality of the liver, Gastro... ORPHA:586
Peho-Like Syndrome
Short nose, Edema OMIM:617507
Lowry-Maclean Syndrome
Choanal atresia, Craniosynostosis, Bilateral cryptorchidism, Midgut malrotation, High, narrow pal... ORPHA:2409
Pseudo-Torch Syndrome 3
Premature birth, Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Increased circul... OMIM:618886
Autosomal Recessive Omodysplasia
Frontal bossing, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Rhizomelia, Short st... ORPHA:93329
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Hydronephrosis, Thrombocy... ORPHA:487796
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Liver abscess, Abnormal pericardium morphology, Congestive heart failure,... ORPHA:67
Chung-Jansen Syndrome
Anteverted nares, Cryptorchidism, Obesity, High palate, Short nose, Meconium stained amniotic fluid OMIM:617991
Intellectual Disability-Strabismus Syndrome
Depressed nasal bridge, Short stature, Narrow nasal ridge, Prominent nose, Polyhydramnios, Crypto... ORPHA:363528
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thickened nuchal skin fold, Hepatomegaly, Flat occiput, Ventricular septal defect, Polyhydramnios... OMIM:235255
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Depressed nasal bridge, Cardiomegaly, Ventricul... OMIM:601005
Lymphatic Malformation 1
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Hydrocele testis, Hypoplasia of l... OMIM:153100
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
American Trypanosomiasis
Hepatomegaly, Aganglionic megacolon, Edema, Periorbital edema, Splenomegaly, Myocarditis, Congest... ORPHA:3386
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Edema, Large for gestational age, Cardiomegaly, Polyhydramnios, Gastrointe... ORPHA:363705
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal... OMIM:616589
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... OMIM:613011
Harel-Yoon Syndrome
Frontal bossing, Hypertrophic cardiomyopathy, Short nose OMIM:617183
Smith-Magenis Syndrome
Frontal bossing, Decreased fetal movement, Hypertriglyceridemia, Failure to thrive in infancy, An... ORPHA:819
Acrodysostosis 2 With Or Without Hormone Resistance
Depressed nasal bridge, Anteverted nares, Cryptorchidism, Obesity, Mild short stature, Short nose... OMIM:614613
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Miller-Dieker Syndrome
Growth delay, Short nose, Anteverted nares, Polyhydramnios ORPHA:531
Trigonocephaly 1
Craniosynostosis, High, narrow palate, Wide nasal bridge, Trigonocephaly, Short nose, Meckel dive... OMIM:190440
Hypomandibular Faciocranial Dysostosis
Anteverted nares, Aplasia/Hypoplasia of the tongue, Trigonocephaly, Craniosynostosis, Polyhydramn... ORPHA:1790
Cockayne Syndrome Type 1
Hepatomegaly, Renal insufficiency, Anophthalmia, Proteinuria, Increased blood urea nitrogen, Anemia ORPHA:90321
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hypertriglyceridemia, Proteinuria, Chronic neutropenia, Hyperlipidemia, Stage 5 chr... ORPHA:79259
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Polyhydramnios, Splenomegaly, Depressed nasal ridge, Ascites, Anemia, Oligohydramnios ORPHA:1046
Microphthalmia With Linear Skin Defects Syndrome
Midface retrusion, Wide nose, Tricuspid regurgitation, Severe short stature, Dilated cardiomyopat... ORPHA:2556
Chromosome 19Q13.11 Deletion Syndrome, Distal
Anteverted nares, Short stature, Underdeveloped nasal alae, Postnatal growth retardation, Cryptor... OMIM:613026
Congenital Disorder Of Glycosylation, Type Iif
Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decreased platelet glycoprotein I... OMIM:603585
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Depressed nasal bridge, Prominent nasal bridge, Cardiome... ORPHA:324410
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Propionic Acidemia
Hepatomegaly, Pancytopenia, Short stature, Cerebellar hemorrhage, Hyperammonemia, Dehydration, An... OMIM:606054
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Frontal bossing, Depressed nasal bridge, Bulbous nose, Brachycephaly, Obesity, Plagiocephaly, Sho... OMIM:618430
Mandibulofacial Dysostosis, Guion-Almeida Type
Ventricular septal defect, Anteverted nares, Trigonocephaly, Choanal atresia, Short stature, Esop... OMIM:610536
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Frontal bossing, Anteverted nares, Depressed nasal bridge, Short stature, Jaundice, Macroglossia,... OMIM:613038
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal insufficiency, Asplenia, Splenomegaly, Stage 5 chronic kidney disease, Ureter... OMIM:208540
Congenital Heart Defects And Skeletal Malformations Syndrome
Frontal bossing, Ventricular septal defect, Intestinal malrotation, Narrow nose, Short stature, L... OMIM:617602
Focal Segmental Glomerulosclerosis 1
Edema, Hyperlipidemia, Hypertension, Hypoalbuminemia, Pleural effusion, Ascites, Anemia OMIM:603278
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... ORPHA:449395
Cronkhite-Canada Syndrome
Intestinal polyposis, Hepatomegaly, Cachexia, Malabsorption, Lymphedema, Splenomegaly, Furrowed t... ORPHA:2930
Developmental And Epileptic Encephalopathy 75
Anteverted nares, Wide nasal bridge, Cardiomyopathy, Prolonged neonatal jaundice, Short nose OMIM:618437
Peroxisome Biogenesis Disorder 12A (Zellweger)
Decreased fetal movement, Short stature, Prominent nose, Scaphocephaly, Cranial asymmetry, Wide n... OMIM:614886
Tetrasomy 12P
Frontal bossing, Anteverted nares, Short stature, Cachexia, Abnormal soft palate morphology, Shor... ORPHA:884
Diabetes Insipidus, Neurohypophyseal
Wide nose, Short nose OMIM:125700
Gomez-Lopez-Hernandez Syndrome
Turricephaly, Anteverted nares, Short stature, Craniosynostosis, Brachycephaly, Skull asymmetry, ... OMIM:601853
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Ventricular septal defect, Short stature, Postnatal growth retardation, Splenomegal... OMIM:620210
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Short nose, Short stature, Brachycephaly ORPHA:1514
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... OMIM:612690
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Malabsorption, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperlipidemi... OMIM:214900
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Frontal bossing, Wide nose, Anteverted nares, Angina pectoris, Abnormal lar... ORPHA:109
Microcephaly 26, Primary, Autosomal Dominant
Short stature, Prominent nasal bridge, Protruding tongue, Wide nasal bridge, Trigonocephaly, Shor... OMIM:619179
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul... OMIM:300635
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, Primary amenorrhea, Hepatospleno... OMIM:612526
Distal Duplication 18Q
Thickened nuchal skin fold, Anteverted nares, Choanal atresia, Prominent nasal bridge, Cryptorchi... ORPHA:1716
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Hyperammonemia, Dehydration, Anemia, Leukopenia, Cardiomyopathy,... ORPHA:27
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Neonatal omphalitis, Leukopenia, High palate, Hypoplasia of the th... OMIM:612541
Chromosome 6Q11-Q14 Deletion Syndrome
Short stature, Prominent nasal bridge, Broad nasal tip, Bilateral cryptorchidism, High palate, Sh... OMIM:613544
Frontofacionasal Dysplasia
Depressed nasal bridge, Choanal atresia, Short stature, Bifid nasal tip, Depressed nasal ridge, B... ORPHA:1791
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Frontal bossing, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Abnorma... ORPHA:2538
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundice, Steator... OMIM:612714
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Esophageal varix, Growth delay, Ste... ORPHA:75233
Camptodactyly Syndrome, Guadalajara Type 1
Anteverted nares, Depressed nasal bridge, Short stature, Brachycephaly, High palate, Intrauterine... ORPHA:1327
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Malabsorption, Hypersplenism, Thr... ORPHA:98850
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Anteverted nares, Depressed nasal bridge, Short stature, Malabsorption, Protruding tongue, Macrog... OMIM:242860
Phocomelia, Schinzel Type
High, narrow palate, Cryptorchidism, Disproportionate short stature, Tracheoesophageal fistula, C... ORPHA:2879
Thrombocytopenia 1
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia OMIM:313900
Acromicric Dysplasia
Bulbous nose, Severe short stature, Anteverted nares, Short nose ORPHA:969
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Hyponatremia, Cachexia, Malabsorption, M... ORPHA:3452
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Peau d'orange, Ventricular septal defect, Elevated circulating creati... OMIM:614576
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Short stature, Polyhydramnios, Wide nasal bridge, High palate, Neutropenia, Atrial septal defect,... OMIM:618005
Mevalonic Aciduria
Normocytic hypoplastic anemia, Failure to thrive in infancy, Elevated circulating creatine kinase... OMIM:610377
Mucopolysaccharidosis Type 7
Lymphedema, Splenomegaly, Hepatitis, Hydrops fetalis, Ascites ORPHA:584
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Lymphedema, Splenomegaly, Jaundic... ORPHA:1414
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe... OMIM:153400
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Weight loss, Enlarged mesenteric... OMIM:209950
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, He... OMIM:278000
Follicular Lymphoma
Abnormal peritoneum morphology, Lymphedema, Splenomegaly, Mediastinal lymphadenopathy, Lymphadeno... ORPHA:545
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... OMIM:600649
16P11.2P12.2 Microdeletion Syndrome
Frontal bossing, Tricuspid regurgitation, Anteverted nares, Short stature, Long nose, Bulbous nos... ORPHA:261211
Congenital Myopathy 22B, Severe Fetal
Hepatomegaly, Frontal bossing, Decreased fetal movement, Nonimmune hydrops fetalis, Polyhydramnio... OMIM:620369
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome... OMIM:619463
Pde4D Haploinsufficiency Syndrome
Frontal bossing, Depressed nasal bridge, Prominent nose, Postnatal growth retardation, Cryptorchi... ORPHA:439822
Adult-Onset Still Disease
Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Elevated circulating C-rea... ORPHA:829
Codas Syndrome
Anteverted nares, Ventricular septal defect, Depressed nasal bridge, Short stature, Extrahepatic ... ORPHA:1458
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Flat occiput, Ventricular septal defect, Polyhydramnios, Broad nasal tip, Postnatal... ORPHA:1655
Bainbridge-Ropers Syndrome
Polyhydramnios, Gastroesophageal reflux, High palate, Choanal stenosis, Caesarian section, Anteve... OMIM:615485
Baker-Gordon Syndrome
Prominent nasal tip, Short nose, Gastroesophageal reflux OMIM:618218
Acrodysostosis
Anteverted nares, Depressed nasal bridge, Short stature, Cryptorchidism, Irregular menstruation, ... ORPHA:950
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Depressed nasal bridge, Hypercalcemia, Craniosynostosis, Postnatal growth retardation, Cryptorchi... OMIM:614732
Immunodeficiency 54
Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Lymphadenopathy, Intraut... OMIM:609981
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Frontal bossing, Short stature, Bulbous nose, Wide nasal bridge, Cleft palate, Abnormal heart mor... OMIM:618571
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Elevated circulating C-reactive protein concentration, Decreased... OMIM:617718
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Short stature, Anosmia, Hypogonadism, Short nose, Short nasal septum OMIM:302950
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Short stature, Splenomegaly, Jaundice, Anemia, Atrial se... ORPHA:290
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... OMIM:308240
Down Syndrome
Thickened nuchal skin fold, Aganglionic megacolon, Depressed nasal bridge, Protruding tongue, Abn... ORPHA:870
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Hepatomegaly, Elevated circulating creatine kinase concentration, Polyhydramnios, High palate, Tr... ORPHA:329178
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Anemia ORPHA:100024
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Frontal bossing, Failure to thrive in infancy, Choanal atresia, Porta... OMIM:613385
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Lymph... ORPHA:507
Cardiofaciocutaneous Syndrome