Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Increased mean cor... |
OMIM:616689 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Short nose, Depressed nasa... |
OMIM:613885 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Burn-Mckeown Syndrome |
|
Mandibular prognathia, Prominent nasal bridge, Choanal atresia, Unilateral renal agenesis, Underd... |
OMIM:608572 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Intestinal malrotation, Broad nasal tip, Micrognathia, Wide nasal bridge, Cleft pal... |
OMIM:615524 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Cleft palate, Unilateral renal agenesis, Underdeveloped nasal alae |
OMIM:601355 |
Beaulieu-Boycott-Innes Syndrome |
|
Recurrent urinary tract infections, Unilateral renal agenesis, Micrognathia, Long nose, Carious t... |
OMIM:613680 |
Williams-Beuren Region Duplication Syndrome |
|
Unilateral renal agenesis, Broad nasal tip, Diastema, Micrognathia, Patent ductus arteriosus, Hyd... |
OMIM:609757 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Death in infancy, Unilateral renal agenesis, Patent ductus arteriosus, Ureteral atresia, Bilatera... |
OMIM:618845 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Smooth philtrum, Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unil... |
ORPHA:363444 |
Anencephaly 2 |
|
Anophthalmia, Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Bifid nose, Median c... |
OMIM:619452 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Crossed fused renal ectopia, Depressed nasal bridge, Unilateral renal agenesis, Micrognathia, Pat... |
OMIM:618142 |
Chopra-Amiel-Gordon Syndrome |
|
Thin upper lip vermilion, Unilateral renal agenesis, Cleft lip, Flared nostrils, Pierre-Robin seq... |
OMIM:619504 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Depressed nasal bridge, Unilateral renal agenesis, Patent ductus arteriosus, Chronic kidney disea... |
OMIM:617661 |
Ring Chromosome 8 Syndrome |
|
Anteverted nares, Abnormality of the ureter, Short nose, Hydronephrosis, Abnormal palate morphology |
ORPHA:1450 |
Autosomal Recessive Primary Microcephaly |
|
Vesicoureteral reflux, Thin upper lip vermilion, Agenesis of corpus callosum, Unilateral renal ag... |
ORPHA:2512 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Renal agenesis, Unilateral renal agenesis, Cleft upper lip, Ectopic kidney, Micrognathia, Cleft p... |
OMIM:601076 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Thin upper lip vermilion, Overhanging nasal tip, Unilateral renal agenesis, High, narrow palate, ... |
OMIM:618494 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Depressed nasal bridge, Anteverted nares, Unilateral renal agenesis,... |
ORPHA:1064 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Hepatosplenomegaly, Pancytopenia, Thrombocytosis, Microcytic anemia |
OMIM:604416 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Holoprosencephaly, Microphthalmia |
OMIM:611638 |
Trisomy 1Q |
|
Microretrognathia, Multicystic kidney dysplasia, Anophthalmia, Depressed nasal bridge, Wide nose,... |
ORPHA:261344 |
Hydrolethalus |
|
Anophthalmia, Micrognathia, Hydrocephalus, Submucous cleft hard palate, Anencephaly, Cleft palate... |
ORPHA:2189 |
Emanuel Syndrome |
|
Broad jaw, Recurrent urinary tract infections, Dental crowding, Intestinal malrotation, Unilatera... |
OMIM:609029 |
Nager Syndrome |
|
Unilateral renal agenesis, Micrognathia, Abnormal nasal morphology, Hypoplasia of the maxilla, No... |
ORPHA:245 |
Oculocerebrocutaneous Syndrome |
|
Cleft ala nasi, Anophthalmia, Orbital encephalocele, Cleft palate, Microphthalmia, Agenesis of co... |
OMIM:164180 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Unilateral renal agenesis, Cleft upper lip, Anosmia, Cleft palate, Hyposmia, Micropenis |
OMIM:244200 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Wide nose, Renal agenesis, Choanal atresia, Unilateral renal agenesis, Esophageal atresia, Submuc... |
OMIM:619227 |
Eosinophilia, Familial |
|
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia |
OMIM:131400 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Aganglionic megacolon, Unilateral renal agenesis |
OMIM:235740 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy... |
OMIM:617780 |
Trisomy 13 |
|
Anophthalmia, Median cleft lip, Abnormality of the dentition, High, narrow palate, Patent ductus ... |
ORPHA:3378 |
Emanuel Syndrome |
|
Delayed eruption of teeth, Broad jaw, Dental crowding, Unilateral renal agenesis, Micrognathia, P... |
ORPHA:96170 |
Hogue-Janssen Syndrome 2 |
|
Tented upper lip vermilion, Anteverted nares, Unilateral renal agenesis, Hydrocephalus, Open mout... |
OMIM:616362 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia, Histiocytosis |
OMIM:209950 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... |
OMIM:619130 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Neural tube defect, Anophthalmia, Bilateral cleft lip and palate |
OMIM:600776 |
Cerebrooculonasal Syndrome |
|
Hypoplasia of penis, Anophthalmia, High palate, Widely spaced teeth, Solitary median maxillary ce... |
ORPHA:66625 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Anophthalmia Plus Syndrome |
|
Anophthalmia, Choanal atresia, Spina bifida, Abnormal nasal morphology, Non-midline cleft lip, Cl... |
ORPHA:1104 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Death in infancy, Unilateral renal agenesis, Patent ductus arteriosus, Hydrocephalus, Esophageal ... |
OMIM:614576 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula, Renal malrotation, Intestinal malrotation, Unilateral renal ag... |
OMIM:113650 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Increased overbite, Micropenis, Unilateral renal agenesis, Abnormally large globe |
OMIM:618504 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Everted upper lip vermilion, Depressed nasal bridge, Prominent nasal bridge, Unilateral renal age... |
OMIM:619951 |
Humero-Radio-Ulnar Synostosis |
|
Abnormality of the ureter, Abnormality of the upper urinary tract |
ORPHA:3266 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenom... |
ORPHA:824 |
Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Anteverted nares, Unilateral renal agenesis, Multiple sma... |
OMIM:216360 |
Inverted Duplicated Chromosome 15 Syndrome |
|
High palate, Short philtrum, Unilateral renal agenesis, Broad nasal tip |
ORPHA:3306 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia, Anteverted nares, Prominent nasal bridge, Abnormal spaced incisors, Broad nasal tip... |
ORPHA:411986 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Anophthalmia, Hypospadias, Esophageal atresia, Patent ductus arteriosus, Hyd... |
ORPHA:77298 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Fraser Syndrome 2 |
|
Wide nose, Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Underdeveloped nasa... |
OMIM:617666 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Micrognathia, Depressed nasal ridge, ... |
ORPHA:1046 |
Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Choanal atresia, Cleft upper li... |
OMIM:147250 |
Joubert Syndrome 15 |
|
Micropenis, Exencephaly, Nephronophthisis |
OMIM:614464 |
Holoprosencephaly 9 |
|
Anophthalmia, Depressed nasal bridge, Optic nerve hypoplasia, Hypoplasia of the premaxilla, Cleft... |
OMIM:610829 |
Proboscis Lateralis |
|
Aplasia/Hypoplasia of the maxilla, Anophthalmia, Optic nerve hypoplasia, Unilateral renal agenesi... |
ORPHA:141099 |
Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Unilateral renal agenesis, Abnormal stomach morphology |
ORPHA:281090 |
Oligomeganephronia |
|
Branchial cyst, Renal insufficiency, Proteinuria, Unilateral renal agenesis, Micrognathia, Glomer... |
ORPHA:2260 |
Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Micrognathia, Esophageal atresia, Hydrocephalus, Wide nasal bridge, Re... |
OMIM:614083 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Takenouchi-Kosaki Syndrome |
|
Thin upper lip vermilion, Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Bulbo... |
OMIM:616737 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Renal agenesis, Short lingual frenulum, Unilateral renal agenesis, Bulbous nose, Anteriorly place... |
OMIM:608980 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ... |
ORPHA:2919 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Asplenia, Coombs-positive hemolytic anemia, Thrombocytosis |
OMIM:614034 |
Holzgreve Syndrome |
|
Renal agenesis, Renal hypoplasia, Cleft palate, Cleft upper lip |
OMIM:236110 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Anophthalmia, Failure of eruption of permanent teeth, Submucous cleft hard p... |
ORPHA:2250 |
Kallmann Syndrome With Spastic Paraplegia |
|
High palate, Micropenis, Anosmia, Unilateral renal agenesis |
OMIM:308750 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Thin upper lip vermilion, Renal insufficiency, Renal agenesis, Anteverted nares, Unilateral renal... |
OMIM:617641 |
Shashi-Pena Syndrome |
|
Thin upper lip vermilion, Unilateral renal agenesis, Broad nasal tip, Patent ductus arteriosus, R... |
OMIM:617190 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Micrognathia, Patent du... |
ORPHA:2547 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Cleft soft palate, Prominent nose, Abnormal preputium morphology, Bulbous nose, Glandular hypospa... |
ORPHA:293725 |
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Aniridia, Unilateral renal agenesis |
OMIM:206750 |
Bleeding Disorder, Platelet-Type, 16 |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
Frontonasal Dysplasia 1 |
|
Median cleft lip, Broad nasal tip, Bifid nasal tip, Hypoplasia of the maxilla, Hypoplastic fronta... |
OMIM:136760 |
Immunodeficiency 92 |
|
Hepatomegaly, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytope... |
OMIM:619652 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Thin upper lip vermilion, Hydroureter, Unilateral renal agenesis, Broad nasal tip, Deep philtrum,... |
OMIM:619194 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Abnormality of the ureter, Hypospadias |
ORPHA:2487 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Delayed eruption of teeth, Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Unila... |
OMIM:101800 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla, Renal hypoplasia, Cleft palate, High palate, Narrow... |
OMIM:246560 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hypospadias, Renal agenesis, Anteverted nares, Depressed nasal bridge, Micrognathia, Patent ductu... |
ORPHA:171839 |
Braddock Syndrome |
|
Unilateral renal agenesis, Micrognathia |
ORPHA:52047 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Anteverted nares, Narrow nasal ridge, Bulbous nose, Renal hypoplasia, Renal cy... |
OMIM:236500 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cleft palate, Abnormality of the kidney, Unilateral renal agenesis |
OMIM:118100 |
Cerebrooculonasal Syndrome |
|
Encephalocele, U-Shaped upper lip vermilion, Anophthalmia, Anteverted nares, Optic nerve hypoplas... |
OMIM:605627 |
Distal 22Q11.2 Microduplication Syndrome |
|
Smooth philtrum, Branchial fistula, Wide nose, Mandibular prognathia, Unilateral renal agenesis, ... |
ORPHA:261337 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Chromosome 17Q12 Deletion Syndrome |
|
Mandibular prognathia, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary... |
OMIM:614527 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Bladder Exstrophy And Epispadias Complex |
|
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Anteriorly placed anus, Bla... |
OMIM:600057 |
Holoprosencephaly |
|
Hypoplasia of penis, Anophthalmia, Deep philtrum, Depressed nasal ridge, Absent nares, Holoprosen... |
ORPHA:2162 |
Radial-Renal Syndrome |
|
Unilateral renal agenesis, Ectopic kidney |
OMIM:179280 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Unilateral renal agenesis, Anosmia, High palate, Hyposmia, Micropenis |
OMIM:308700 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Anteverted nares, Depressed nasal bridge, Unilateral renal agenesis,... |
OMIM:618188 |
Walker-Warburg Syndrome |
|
Hypoplasia of penis, Anophthalmia, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Micr... |
ORPHA:899 |
Meckel Syndrome |
|
Encephalocele, Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, Aplasia/Hypoplas... |
ORPHA:564 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Anophthalmia, Micrognathia, Patent ductus arteriosus, Bilateral microphthalmos... |
OMIM:601186 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Microretrognathia, Hypospadias, Optic nerve hypoplasia, Unilateral renal agenesis, Prominent nasa... |
ORPHA:468631 |
Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... |
ORPHA:411709 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, Depressed nasal bridge, Cleft upper lip, Deep philtrum, Flared nostrils, Cleft pala... |
OMIM:206920 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... |
OMIM:620135 |
Matthew-Wood Syndrome |
|
Anophthalmia, Renal hypoplasia, Horseshoe kidney, Duodenal stenosis, Vesicoureteral reflux, Micro... |
ORPHA:2470 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Cleft soft palate, Dental cro... |
OMIM:616331 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Prominent nasal bridge, Unilateral renal agenesis, Ectopic kidney, Long nose, Broad nasal tip, To... |
OMIM:616541 |
Fraser Syndrome 1 |
|
Anophthalmia, Cleft ala nasi, Dental crowding, Choanal stenosis, Micropenis, Abnormality of the a... |
OMIM:219000 |
Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis, Anal atresia |
OMIM:274265 |
Fraser Syndrome |
|
Hypoplasia of penis, Anophthalmia, Cleft ala nasi, Dental crowding, Orofacial cleft, Urethral atr... |
ORPHA:2052 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Renal agenesis, Spina bifida, Renal hypoplasia/aplasia, Micrognathia, Esophageal at... |
ORPHA:3412 |
Acrofacial Dysostosis 1, Nager Type |
|
Aganglionic megacolon, Prominent nasal bridge, Unilateral renal agenesis, Cleft upper lip, Microg... |
OMIM:154400 |
Bresek Syndrome |
|
Hypoplasia of the bladder, Aganglionic megacolon, Optic nerve hypoplasia, Convex nasal ridge, Hyd... |
ORPHA:85284 |
Diamond-Blackfan Anemia 11 |
|
Bilateral cleft palate, Unilateral renal agenesis |
OMIM:614900 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Anteverted nares, Abnormality of the ureter, High palate, Umbilical hernia, Convex nasal ridge |
ORPHA:1035 |
7Q11.23 Microduplication Syndrome |
|
Thin upper lip vermilion, Hypospadias, Short lingual frenulum, Unilateral renal agenesis, Broad n... |
ORPHA:96121 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
Zttk Syndrome |
|
Depressed nasal bridge, Polyuria, Unilateral renal agenesis, Abnormality of the dentition, Hypopl... |
OMIM:617140 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Wide nose, Anteverted nares, Unilateral renal agenesis, Cleft upper lip, Micrognathia, Hypoplasia... |
OMIM:213980 |
Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Micrognathia, Partial agenesis of the corpus callosum, Renal cyst, Holoprosencep... |
OMIM:270400 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Vesicoureteral reflux, Unilateral renal agenesis, Hiatus hernia |
OMIM:606408 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Depressed nasal bridge, Open bite, Hypoplasia of the maxilla, Depressed na... |
ORPHA:1248 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Recurrent urinary tract infections, Depressed nasal bridge, Hypospadias, D... |
OMIM:619103 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Verheij Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Renal agenesis, Optic nerve hypoplasia, Anteverted nare... |
OMIM:615583 |
Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Abnormality of the philtrum, Abnormal oral mucosa morphology, Prominent na... |
ORPHA:2673 |
Amish Lethal Microcephaly |
|
Death in infancy, Cleft soft palate, Spina bifida, Micrognathia, Organic aciduria, Agenesis of co... |
ORPHA:99742 |
Orofaciodigital Syndrome Xix |
|
Cleft soft palate, Accessory oral frenulum, Underdeveloped nasal alae, Bifid nasal tip, Carious t... |
OMIM:620107 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Unilateral renal agenesis, Cleft palate, Methylmalonic aciduria, Stomatitis, Glossitis |
ORPHA:79284 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Hypospadias, Unilateral renal agenesis, Pat... |
ORPHA:487796 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Microgastria-Limb Reduction Defect Syndrome |
|
Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Intestinal malrotation, Renal hypopla... |
ORPHA:2538 |
Neurooculorenal Syndrome |
|
Hypoplasia of the bladder, Intestinal malrotation, Unilateral renal agenesis, Micrognathia, Aqued... |
OMIM:620305 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Iron deficiency anemia, Thrombocytosis, Anemia, Hepatomegaly |
OMIM:226300 |
Mandibulofacial Dysostosis With Alopecia |
|
Hydroureter, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the ... |
OMIM:616367 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Microphthalmia, Syndromic 5 |
|
Anophthalmia, Optic nerve hypoplasia, Cleft palate, Microphthalmia, Micropenis |
OMIM:610125 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent urinary tract infections, Anteverted nares, Optic nerve hypoplasia, Unilateral renal ag... |
ORPHA:221139 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Ventricu... |
OMIM:243150 |
Microphthalmia With Limb Anomalies |
|
Death in infancy, Depressed nasal bridge, Macrodontia, Hypoplasia of the premaxilla, Cleft upper ... |
ORPHA:1106 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Prune Belly Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infection... |
ORPHA:2970 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Abnormality of the philtrum, Renal hypoplasia/aplasia, Non-midline cleft lip, Abnormality of the ... |
ORPHA:1770 |
Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death, Anal atresia, Unilateral renal agenesis, Persistent cloaca |
OMIM:615709 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Prominence of the premaxilla, Anteverted nares, Patent ductus arteriosus, Depressed nasal ridge, ... |
ORPHA:2412 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Smooth philtrum, Unilateral renal agenesis, Underdeveloped nasal alae, Pyloric stenosis, Thin ver... |
OMIM:618419 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Coffin-Siris Syndrome 11 |
|
Depressed nasal bridge, Cleft soft palate, Esophageal atresia, Bulbous nose, Downturned corners o... |
OMIM:618779 |
Diabetic Embryopathy |
|
Ureteral duplication, Renal hypoplasia/aplasia, Micrognathia, Hydrocephalus, Cleft palate, Spinal... |
ORPHA:1926 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Depressed nasal bridge, Unilateral renal agenesis, Cleft upper lip, Micrognathia, Stillbirth, Umb... |
OMIM:308050 |
Aredyld Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Abnormal dental enamel morphology, Abnormal nas... |
ORPHA:1133 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Dela... |
ORPHA:819 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal dental morphology, Hypospadias, Micrognathia, Malar prominence, Abnormality of the urete... |
ORPHA:2522 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Thrombocytopenia, Anemia, Cardiomegaly |
ORPHA:858 |
Scalp-Ear-Nipple Syndrome |
|
Mandibular prognathia, Renal insufficiency, Anteverted nares, Depressed nasal bridge, Unilateral ... |
OMIM:181270 |
Leopard Syndrome 1 |
|
Mandibular prognathia, Hypospadias, Unilateral renal agenesis, Depressed nasal ridge, Cleft palat... |
OMIM:151100 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Single naris, Renal cyst, Hyperechogenic ki... |
OMIM:615636 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Renal insufficiency, Proteinuria, Prominent nasal bridge, Hypoplasia of the ma... |
ORPHA:1307 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anteverted nares, Optic nerve hypoplasia, Unilateral renal agenesis, Hydrocephalus, Open mouth, A... |
ORPHA:457284 |
Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Micrognathia, Hydrocephalus, Abnormality of the ureter, Tracheoesophage... |
ORPHA:1834 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia, Underdeveloped nasal alae, Micrognathia, Renal hypoplasia, Dow... |
ORPHA:264200 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hypospadias, Choanal atresia, Unilateral renal agenesis, Depressed nasal bridge, High, narrow pal... |
ORPHA:95699 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Anophthalmia, Delayed eruption of primary teeth, Widely spaced primary tee... |
ORPHA:90322 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Leukopenia, Lymphopenia, Thrombocytosis, Anemia |
OMIM:615934 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Anophthalmia, Cleft ala nasi, Anteriorly placed anus, Oligodontia, Spina bi... |
OMIM:305600 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly |
ORPHA:71493 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Renal insufficiency, Anophthalmia, Proteinuria, Delayed eruption of primar... |
ORPHA:90321 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Anal stenosis, Hypospadias, Hypoplasia of the maxilla, Hydrocephalus, Wide... |
OMIM:601499 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Microretrognathia, Anteverted nares, Abnormality of the... |
ORPHA:508488 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Prominent nasal bridge, Intestinal malrotation, Abnormality of the den... |
ORPHA:2712 |
Charge Syndrome |
|
Delayed eruption of teeth, Anophthalmia, Depressed nasal bridge, Choanal atresia, Cleft upper lip... |
ORPHA:138 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Ventricular septal defect, Pure red cell aplasia, Erythroid hypoplasia, R... |
ORPHA:124 |
Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Spina bifida, Anteverted nares, Abnormality of the dentit... |
ORPHA:261318 |
Schilbach-Rott Syndrome |
|
Hypospadias, Prominent nose, Long nose, Micrognathia, Submucous cleft hard palate, Narrow mouth, ... |
OMIM:164220 |
Caudal Duplication |
|
Abnormal penis morphology, Ureteral duplication, Spina bifida, Renal hypoplasia/aplasia, Myelomen... |
ORPHA:1756 |
Meckel Syndrome 12 |
|
Anteverted nares, Ureteral hypoplasia, Micrognathia, Renal hypoplasia, Wide nasal bridge, Bilater... |
OMIM:616258 |
Cockayne Syndrome Type 3 |
|
Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Carious teeth, R... |
ORPHA:90324 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hypospadias, Narrow nasal tip, Unilateral renal agenesis, Prominent nasal bridge, Pyloric stenosi... |
ORPHA:464306 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th... |
OMIM:137920 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Hypospadias, Anteverted nares, Depressed nasal bridge, Meningocele, Abnormality of the ureter, Cl... |
ORPHA:2311 |
Lowry-Maclean Syndrome |
|
Hypospadias, Choanal atresia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the ... |
ORPHA:2409 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Prominent nasal bridge, Unilateral renal agenesis, Patent ductus arteriosus, Renal c... |
ORPHA:464311 |
Orofacial Cleft 13 |
|
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia |
OMIM:613857 |
Axenfeld-Rieger Syndrome |
|
Anal stenosis, Depressed nasal bridge, Hypospadias, Hypoplasia of the maxilla, Wide nasal bridge,... |
ORPHA:782 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru... |
OMIM:137550 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Cleft palate, Polycystic kidney ... |
ORPHA:2237 |
Penoscrotal Transposition |
|
Hypospadias, Renal agenesis, Micrognathia, Abnormality of the urethra, Penoscrotal transposition,... |
ORPHA:2842 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Abnormality of the philtrum, Prominent nasal bridge, Micrognathia, Abnormali... |
ORPHA:3409 |
Pallister-Hall Syndrome |
|
Ectopic kidney, Depressed nasal ridge, Holoprosencephaly, Micropenis, Bifid uvula, Microretrognat... |
ORPHA:672 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal penis morphology, Encephalocele, Hypospadias, Epispadias, Depressed nasal ridge, Exencep... |
ORPHA:2211 |
Poems Syndrome |
|
Pericardial effusion, Thrombocytosis, Polycythemia, Visceromegaly |
ORPHA:2905 |
Syndromic Diarrhea |
|
Hepatomegaly, Bicuspid aortic valve, Ventricular septal defect, Increased mean platelet volume, S... |
ORPHA:84064 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Thin upper lip vermilion, Renal agenesis, Ante... |
OMIM:220500 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Ectopic kidn... |
OMIM:164210 |
Cutis Laxa, Autosomal Dominant 3 |
|
Unilateral renal agenesis |
OMIM:616603 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Anteverted nares, Cleft soft palate, Broad nasal tip, Abnormality of the dentition, Micrognathia,... |
OMIM:618529 |
Silver-Russell Syndrome 1 |
|
Urethral valve, Hypospadias, Micrognathia, Abnormality of the ureter, Downturned corners of mouth... |
OMIM:180860 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Abnormality of the kidney, Horseshoe kidney, Unilateral renal agenesis, Ectopic kidney |
ORPHA:3109 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Recurrent urinary tract infections, Hypospadias, Prominent nasal bridge, Unilateral renal agenesi... |
ORPHA:268261 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Neonatal death, Patent ductus arteriosus, Unilateral renal agenesis |
OMIM:620024 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the nose, Nasal polyposis, Intestinal obstruction, Abnormality of the nose, Esophagea... |
ORPHA:2869 |
Beta-Ketothiolase Deficiency |
|
Thrombocytosis, Leukocytosis, Hepatomegaly |
ORPHA:134 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Leukocytosis, Dilated cardiomyopathy, Leukopenia, Thrombocytosis, Anemia |
ORPHA:20 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia, High palate, Agenesis of corpus callosum |
ORPHA:139471 |
Holoprosencephaly 3 |
|
Depressed nasal bridge, Proboscis, Abnormality of the nose, Cleft lip, Single naris, Cleft palate... |
OMIM:142945 |
Baller-Gerold Syndrome |
|
Narrow nasal bridge, Prominent nasal bridge, Malabsorption, Micrognathia, Abnormality of the uret... |
ORPHA:1225 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Abnormality of th... |
ORPHA:3253 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Cleft upper lip, Anencephaly, Cleft palate, Renal cyst, Microphthalmia |
OMIM:611561 |
Desmosterolosis |
|
Renal agenesis, Depressed nasal bridge, Intestinal malrotation, Renal hypoplasia/aplasia, Abnorma... |
ORPHA:35107 |
Autoerythrocyte Sensitization Syndrome |
|
Abnormal erythrocyte morphology, Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocy... |
ORPHA:324636 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Depressed nasal bridge, Optic nerve hypoplasia, Bilateral renal dysplasia, Unilateral renal agene... |
ORPHA:500150 |
Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Anophthalmia, Hypospadias, Prominent nasal bridge, Broad nasal tip, Bi... |
OMIM:300166 |
Marden-Walker Syndrome |
|
Micrognathia, Epispadias, Agenesis of corpus callosum, Bifid uvula, Abnormal penis morphology, Mu... |
ORPHA:2461 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Schisis Association |
|
Encephalocele, Renal agenesis, Spina bifida, Anencephaly, Tracheoesophageal fistula, Cleft palate... |
ORPHA:63862 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Pericarditis, Pericardial effusion, Cardiomyopathy, Thrombocytosis |
OMIM:212065 |
Microform Holoprosencephaly |
|
Narrow nasal bridge, Hypoplasia of penis, Tented upper lip vermilion, Renal agenesis, Choanal atr... |
ORPHA:280200 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Dental crowding, Mic... |
OMIM:300990 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Hypospadias, Anteverted nares, Cleft soft palate, Micrognathia, Patent ductus arteriosus, Wide na... |
ORPHA:2282 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Submucous cleft hard palate, Renal hypoplasia, Spinal dysraphism, Vesicoureteral reflux, Bifid uvula |
OMIM:617660 |
Cerebrocostomandibular Syndrome |
|
Anal stenosis, Cleft soft palate, Ectopic kidney, Carious teeth, Cleft lip, Patent ductus arterio... |
OMIM:117650 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Hypospadias, Optic nerve hypoplasia, Esophageal atresia, Paten... |
OMIM:206900 |
Czeizel-Losonci Syndrome |
|
Spina bifida, Micrognathia, Myelomeningocele, Hydrocephalus, Tracheoesophageal fistula, Ureteral ... |
ORPHA:2437 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Leukocytosis, Dilated cardiomyopathy, Hepatosplenomegal... |
OMIM:615688 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Wide nose, Anophthalmia, Hypospadias, Abnormal dental enamel morpholog... |
ORPHA:2556 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Mandibular prognathia, Micrognathia, Submucous cleft hard palate, Cleft palate, Retrognathia, Bif... |
ORPHA:2521 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure... |
ORPHA:3027 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Cockayne Syndrome |
|
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... |
ORPHA:191 |
Celiac Disease, Susceptibility To, 1 |
|
Iron deficiency anemia, Macrocytic anemia, Thrombocytosis |
OMIM:212750 |
Pallister-Hall Syndrome |
|
Ectopic kidney, Renal cyst, Anteriorly placed anus, Holoprosencephaly, Neonatal death, Micropenis... |
OMIM:146510 |
Treacher-Collins Syndrome |
|
Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Encephal... |
ORPHA:861 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hypospadias, Selective tooth agenesis, Conical tooth, Cleft upper lip, Hypoplasia of the maxilla,... |
OMIM:106260 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Ventricular septal defect, Increased mean platelet volume, Splenomegaly, Pulmonic s... |
OMIM:222470 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Optic nerve hypoplasia, Broad nasal tip, Micrognathia, Hypoplasia of the m... |
OMIM:620157 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Raine Syndrome |
|
Mandibular prognathia, Micrognathia, Choanal stenosis, High palate, Neonatal death, Microdontia, ... |
OMIM:259775 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Hypoplasia of the maxilla, Depress... |
ORPHA:1529 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... |
OMIM:105650 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Micrognathia, Esophageal atresia, Microphthalmia, Smooth philtrum |
OMIM:614526 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Anophthalmia, Hypoplasia of the maxilla, High, narrow palate, Long philtru... |
ORPHA:1101 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Hypoplasia of the premax... |
ORPHA:2166 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Cardiomegaly |
OMIM:618838 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hypoplastic nasal septum, Holo... |
OMIM:610828 |
Cleft Velum |
|
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Hypospadias, Prominent nasal bridge, Abnormal dental enamel morphology, Und... |
ORPHA:96169 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Smooth philtrum, Optic nerve hypoplasia, Cleft soft palate, Intestinal malrotation, Hydrocephalus... |
OMIM:619321 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Renal insufficiency, Proteinuria, Micrognathia, Hypoplasia of the maxilla, Stage 5 chronic kidney... |
OMIM:166300 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Distal 16P11.2 Microdeletion Syndrome |
|
Proteinuria, Abnormality of the kidney, Renal agenesis, Prominent nasal bridge, Aganglionic megac... |
ORPHA:261222 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Cleft upper lip, Abnormality of the dentition, Hypop... |
ORPHA:915 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, Prominent nose, High, narrow palate, Deep philtrum, Downturned corners of ... |
OMIM:619950 |
Interstitial Lung And Liver Disease |
|
Thrombocytosis, Anemia, Hepatomegaly |
OMIM:615486 |
Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
Spastic Paraplegia 16, X-Linked |
|
Urinary urgency, Hypoplasia of the maxilla, Urinary bladder sphincter dysfunction, Urinary incont... |
OMIM:300266 |
Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Dilated cardiomyopathy,... |
ORPHA:3260 |
Rapp-Hodgkin Syndrome |
|
Depressed nasal bridge, Hypospadias, Underdeveloped nasal alae, Conical tooth, Cleft upper lip, V... |
OMIM:129400 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Anteriorly placed anus, Downturned corners of m... |
ORPHA:1299 |
Manitoba Oculotrichoanal Syndrome |
|
Anal stenosis, Anophthalmia, Broad nasal tip, Bifid nasal tip, Anteriorly placed anus, Microphtha... |
OMIM:248450 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula |
ORPHA:2736 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Anteverted nares, Intestinal malrotation, Velopharyngeal insufficiency,... |
OMIM:614701 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiomegaly |
OMIM:269920 |
Holoprosencephaly 2 |
|
Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Alobar holoprosencephaly, Submuc... |
OMIM:157170 |
Cenani-Lenz Syndactyly Syndrome |
|
Premature loss of permanent teeth, Renal agenesis, Ectopic kidney, Micrognathia, Renal hypoplasia... |
OMIM:212780 |
Mullerian Aplasia And Hyperandrogenism |
|
Unilateral renal agenesis |
OMIM:158330 |
Charge Syndrome |
|
Anophthalmia, Micrognathia, Holoprosencephaly, Micropenis, Cleft upper lip, Esophageal atresia, P... |
OMIM:214800 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Hypoplasia of the maxilla, Thin vermilion border, Short philtrum, Premature loss of teeth, Convex... |
OMIM:156510 |
Oculotrichoanal Syndrome |
|
Anal stenosis, Anophthalmia, Bifid nasal tip, Anteriorly placed anus, Microphthalmia |
ORPHA:2717 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Renal agenesis, Hypospadias, Depressed nasal bridge, Broad nasal tip, Malrotation o... |
OMIM:113620 |
1Q41Q42 Microdeletion Syndrome |
|
Depressed nasal bridge, Underdeveloped nasal alae, Broad nasal tip, Submucous cleft hard palate, ... |
ORPHA:250999 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Prominent ... |
OMIM:608670 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ureteral duplication, Renal agenesis, Ectopic kidney, Hydrocephalus, Horseshoe kidney, Lateral ve... |
OMIM:602200 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Hydrocephalus, Wide nasal bridge |
OMIM:618302 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Renal dysplasia, Ureteral duplication, Anal stenosis, Anteverted nares, Ureteral hypoplasia, Depr... |
OMIM:614080 |
Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Congenital thrombocytopenia, Anemia, Cardiomegaly |
OMIM:618886 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Cogan Syndrome |
|
Thrombocytosis, Leukocytosis, Anemia |
ORPHA:1467 |
Bladder Exstrophy |
|
Hypoplasia of penis, Recurrent urinary tract infections, Intestinal malrotation, Epispadias, Abno... |
ORPHA:93930 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Thin upper lip vermilion, Anteverted nares, High, narrow palate, Patent ductus arteriosus, Submuc... |
OMIM:612863 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Malar flattening, Convex nasal ridge, ... |
ORPHA:93262 |
Digeorge Syndrome |
|
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Micrognathia, High, narrow palat... |
OMIM:188400 |
3Mc Syndrome 2 |
|
Prominence of the premaxilla, Hypospadias, Prominent nasal bridge, Cleft upper lip, Wide nasal br... |
OMIM:265050 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Micrognathia, Lobulated tongue, Agenesis of corpus callosum, Cleft upper... |
OMIM:249000 |
Cree Mental Retardation Syndrome |
|
Hypospadias, Cleft soft palate, Micrognathia |
OMIM:606851 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Prominent nose, Patent ductus arteriosus, Hydrocephalus, Wide nasal... |
OMIM:614886 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia, Hypospadias, Long philtrum |
OMIM:615877 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Alagille Syndrome |
|
Renal hypoplasia/aplasia, Long nose, Micrognathia, Abnormality of the ureter, Nephrotic syndrome,... |
ORPHA:52 |
Fraser Syndrome 3 |
|
Hypoplasia of the bladder, Hypoplasia of penis, Wide nose, Micrognathia, Hydrocephalus, Ureteral ... |
OMIM:617667 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Hypoplasia of the maxilla, Cleft palate, Vesicoureteral reflux, Short nose |
OMIM:614261 |
Cat Eye Syndrome |
|
Anal stenosis, Renal agenesis, Intestinal malrotation, Rectal fistula, Micrognathia, Patent ductu... |
OMIM:115470 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Broad nasal tip, Deep philtrum, Non-midline cleft l... |
ORPHA:1297 |
Brucellosis |
|
Hepatomegaly, Pericarditis, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomegaly, Myocardi... |
ORPHA:1304 |
Mohr Syndrome |
|
Median cleft lip, Depressed nasal bridge, Accessory oral frenulum, Broad nasal tip, Bifid nasal t... |
OMIM:252100 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Micrognathia, High, narrow palate, Submucous cleft hard palate, Wide n... |
ORPHA:2780 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Familial Visceral Myopathy |
|
Hydroureter, Anteverted nares, Prominent nasal bridge, Aganglionic megacolon, Micrognathia, Megac... |
ORPHA:2604 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal age... |
OMIM:308205 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Cleft hard palate, Micrognathia, Broad nasal tip |
ORPHA:166016 |
Cloacal Exstrophy |
|
Hypoplasia of penis, Hydroureter, Intestinal malrotation, Spina bifida, Ectopic kidney, Renal hyp... |
ORPHA:93929 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer cell count, Decreas... |
OMIM:301074 |
20P12.3 Microdeletion Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Narrow mouth, Malar flatten... |
ORPHA:261295 |
Frontorhiny |
|
Encephalocele, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Cleft palate, Midline nasa... |
ORPHA:391474 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Depressed nasal bridge, Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermili... |
OMIM:617412 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Micrognathia, Alobar holoprosenc... |
OMIM:301043 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Dental crowding, Prominent nose, Micrognathia, Deep philtrum, Downturned c... |
OMIM:619503 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Microphtha... |
OMIM:617914 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of... |
OMIM:129900 |
Carpenter Syndrome 1 |
|
Hydroureter, Depressed nasal bridge, Persistence of primary teeth, Micrognathia, Hypoplasia of th... |
OMIM:201000 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Depressed nasal bridge, Hypospadias, Abnormal de... |
ORPHA:439822 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Aglossia, Choanal... |
OMIM:241310 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Hypospadias, Depressed nasal bridge, Micrognathia, Myelomeningocele, Pierre-Robin ... |
ORPHA:90652 |
Neuraminidase Deficiency |
|
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom... |
OMIM:256550 |
Hereditary Orotic Aciduria |
|
Orotic acid crystalluria, Patent ductus arteriosus, Abnormality of the ureter, Wide nasal bridge,... |
ORPHA:30 |
Fibular Hemimelia |
|
Anophthalmia, Renal dysplasia, Spina bifida |
ORPHA:93323 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Abnormality of the dentition, Broad nasal tip |
ORPHA:2776 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Urethral valve, Hydroureter, Urethral obstruction, Enuresis, ... |
OMIM:236730 |
Prune Belly Syndrome |
|
Hydroureter, Patent ductus arteriosus, Xerostomia, Congenital posterior urethral valve, Hydroneph... |
OMIM:100100 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Thin upper lip vermilion, Hypoplasia of the maxilla, Bulbous nose, Smooth philtrum, Widely-spaced... |
OMIM:618737 |
Cerebrofacioarticular Syndrome |
|
Irregular dentition, Anal stenosis, Hypospadias, Micrognathia, Bilateral choanal atresia/stenosis... |
ORPHA:314679 |
8Q22.1 Microdeletion Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Submucous cleft hard palate, Depressed n... |
ORPHA:178303 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Depressed nasal bridge, Convex nasal ridge, Renal h... |
ORPHA:3015 |
Lujan-Fryns Syndrome |
|
Dental crowding, Prominent nasal bridge, Abnormality of the dentition, Micrognathia, Hypoplasia o... |
ORPHA:776 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Andersen-Tawil Syndrome |
|
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence of primary te... |
ORPHA:37553 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Short nose, Cleft palate, Long philtrum |
ORPHA:90653 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Inc... |
OMIM:603903 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Submucous cleft hard palate, E... |
OMIM:619680 |
Vacterl/Vater Association |
|
Occipital encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal ag... |
ORPHA:887 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Hypoplasia of the maxilla, High palate, Prominent nasal bridge |
OMIM:300676 |
Cardiofaciocutaneous Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Open bite, Micrognathia, ... |
OMIM:115150 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Submucous cleft hard palate, Abnormal mandible morphology, Abnormality of th... |
ORPHA:3201 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Renal agenesis, Cleft upper lip, Hydrocephalus, Renal hypoplasia, Holoprosencephal... |
OMIM:264480 |
Neuroleptic Malignant Syndrome |
|
Thrombocytosis, Leukocytosis, Thrombocytopenia |
ORPHA:94093 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of... |
OMIM:604292 |
Buratti-Harel Syndrome |
|
Hypospadias, Velopharyngeal insufficiency, Submucous cleft hard palate, High palate, Bifid uvula |
OMIM:619314 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
Exstrophy-Epispadias Complex |
|
Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicoureteral reflux, Bladd... |
ORPHA:322 |
Crouzon Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Narrow palate, Convex nasal ridge |
ORPHA:207 |
Vesicoureteral Reflux 3 |
|
Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Hydroureter, Grade III vesico... |
OMIM:613674 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... |
OMIM:300280 |
Myhre Syndrome |
|
Abnormal penis morphology, Mandibular prognathia, Craniofacial hyperostosis, Hypospadias, Hypopla... |
ORPHA:2588 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Depressed nasal bridge, Choanal atresia, Dental crowding, Hypoplasia of th... |
OMIM:101600 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Depressed nasal bridge, Anteverted nares, Optic nerve hypoplasia, Micrognathia, Submucous cleft h... |
OMIM:222765 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormality of the gingiva, D... |
ORPHA:2753 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Anteriorly placed anus, High palate, Bifid uvul... |
OMIM:211380 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Distal Xq28 Microduplication Syndrome |
|
Short lingual frenulum, Epistaxis, Dental crowding, Broad nasal tip, Hypoplasia of the maxilla, P... |
ORPHA:293939 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
Hardikar Syndrome |
|
Hypoplasia of the bladder, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, ... |
OMIM:301068 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Narrow nasal bridge, Thin upper lip vermilion, Dental crowding, Prominent nasal bridge, Micrognat... |
OMIM:309520 |
Loeys-Dietz Syndrome 5 |
|
Overhanging nasal tip, Tented upper lip vermilion, Prominent nasal bridge, Cleft soft palate, Hia... |
OMIM:615582 |
Thoracoabdominal Syndrome |
|
Renal agenesis, Hypospadias, Cleft upper lip, Patent ductus arteriosus, Hydrocephalus, Anencephal... |
OMIM:313850 |
Van Maldergem Syndrome 1 |
|
Irregular dentition, Tented upper lip vermilion, Hypospadias, Micrognathia, Hypoplasia of the max... |
OMIM:601390 |
Fanconi Anemia, Complementation Group B |
|
Death in infancy, Optic disc hypoplasia, Renal agenesis, Esophageal atresia, Patent ductus arteri... |
OMIM:300514 |
Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Hypospadias, Anteverted nares, Aganglionic megacolon, Epispadias, Abno... |
ORPHA:3339 |
Marshall Syndrome |
|
Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Micrognathia, Hypoplasia ... |
ORPHA:560 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Dental crowding, Underdeveloped nasal alae, Long nose, Micrognathia, H... |
OMIM:257850 |
Pentalogy Of Cantrell |
|
Encephalocele, Renal agenesis, Hypospadias, Non-midline cleft lip, Hydrocephalus, Anencephaly, Cl... |
ORPHA:1335 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Hypoplasia of the maxilla, High palate, Prominent nasal bridge |
ORPHA:85279 |
Duane-Radial Ray Syndrome |
|
Renal malrotation, Abnormal nasopharynx morphology, Anal stenosis, Renal agenesis, Optic disc hyp... |
OMIM:607323 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Thin upper lip vermilion, Prominent nasal bridge, Micrognathia, Diastema, ... |
OMIM:300534 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Thrombocytosis, Leukocytosis, Hypochromic anemia |
OMIM:618213 |
Mulibrey Nanism |
|
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly |
OMIM:253250 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Hypospadias, Prominent nasal bridge, Broad nasal tip, Carious teeth, M... |
OMIM:223370 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Micrognathia, Renal hypoplasia, Cleft palate, High palate, Microphthalmia, Microglo... |
OMIM:607932 |
Orofaciodigital Syndrome Type 10 |
|
Depressed nasal bridge, Cleft soft palate, Accessory oral frenulum, Micrognathia, Long philtrum, ... |
ORPHA:2756 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
Tetraamelia Syndrome 1 |
|
Renal agenesis, Choanal atresia, Cleft upper lip, Micrognathia, Hydrocephalus, Single naris, Clef... |
OMIM:273395 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy |
OMIM:212140 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Mandibular prognathia, Hypospadias, Choanal atresia, Abnormal dental e... |
ORPHA:2658 |
Keipert Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge, Prominent nasal brid... |
ORPHA:2662 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Abnormally large globe, Abnormality of the dentition, Abnormality of ca... |
ORPHA:363417 |
Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Wide nose, Death in early adulthood, Depres... |
ORPHA:192 |
Mucopolysaccharidosis, Type Ix |
|
Submucous cleft hard palate, Depressed nasal bridge, Bifid uvula |
OMIM:601492 |
Peutz-Jeghers Syndrome |
|
Nasal polyposis, Rectal prolapse, Abnormality of the ureter, Multiple gastric polyps, Oral melano... |
OMIM:175200 |
Restrictive Dermopathy 1 |
|
Ureteral duplication, Natal tooth, Hypospadias, Depressed nasal bridge, Narrow nasal ridge, Choan... |
OMIM:275210 |
Stickler Syndrome, Type I |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Submucous cleft hard palate, Pierre-Robin... |
OMIM:108300 |
Van Maldergem Syndrome 2 |
|
Irregular dentition, Tented upper lip vermilion, Hypospadias, Depressed nasal bridge, Micrognathi... |
OMIM:615546 |
Martsolf Syndrome 1 |
|
Depressed nasal bridge, Broad nasal tip, Micrognathia, Hypoplasia of the maxilla, Tooth malpositi... |
OMIM:212720 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Hydroureter, Hypospadias, Abnormality of the kidney, Abnormal oral muc... |
ORPHA:289 |
Meier-Gorlin Syndrome 5 |
|
Micrognathia, Hypoplasia of the maxilla, Submucous cleft hard palate, Thick vermilion border, Lon... |
OMIM:613805 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Hypoplasia of the maxilla, Wide nasal bridge, High palate, Short nose, Agenesis of corpus callosum |
OMIM:218000 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Protruding tongue, Broad nasal tip, Submucous cleft hard palate, Wide nasal brid... |
OMIM:618106 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Hydroureter, Hypospadias, Aganglionic megacolon, Renal hypoplasia/aplasia, Dental c... |
OMIM:309800 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Ureteral duplication, Choanal atresia, Intestinal malrotation, Cleft palate, Rectovaginal fistula... |
OMIM:270420 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... |
OMIM:614753 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Short philtrum |
ORPHA:93945 |
Schwartz-Jampel Syndrome |
|
Pursed lips, Death in infancy, Prominent nasal bridge, Micrognathia, Trismus, Supernumerary tooth... |
ORPHA:800 |
Dextrocardia |
|
Intestinal malrotation, Hydrocephalus, Abnormal renal morphology, Abnormality of the ureter, Meck... |
ORPHA:1666 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Nablus Mask-Like Facial Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Abnormality ... |
OMIM:608156 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Anal stenosis, Depressed nasal bridge, Hypospadias, Malabsorption, Abn... |
ORPHA:235 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ... |
OMIM:601216 |
Apert Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Depressed nasal bridge, Choanal atresia, Hypopl... |
ORPHA:87 |
Lumbar Syndrome |
|
Hypospadias, Renal agenesis, Spina bifida, Myelomeningocele, Ectopic anus, Vesicoureteral reflux,... |
ORPHA:83628 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Pierre-Robin sequence, Choanal stenosis, Cleft soft palate |
OMIM:620183 |
W Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Submucous cleft hard palate, Agenesis of maxillary centr... |
ORPHA:2804 |
Fryns Syndrome |
|
Ureteral duplication, Tented upper lip vermilion, Renal cyst, Agenesis of corpus callosum, Micror... |
OMIM:229850 |
Cardiofaciocutaneous Syndrome |
|
Depressed nasal bridge, Anteverted nares, Hydrocephalus, Submucous cleft hard palate, High palate... |
ORPHA:1340 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Submucous cleft hard palate, Trismus |
OMIM:609166 |
7Q31 Microdeletion Syndrome |
|
Wide nasal ridge, Prominent nose, Hypoplasia of the maxilla, Patent ductus arteriosus after birth... |
ORPHA:251061 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Wide nose, Hydroureter, Depressed nasal bridge, Thin upper lip vermili... |
OMIM:300707 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Wide nose, Anophthalmia, Anteverted nares, Wide nasal bridge, Thick vermilion border, Long philtr... |
ORPHA:2526 |
Schinzel-Giedion Syndrome |
|
Micrognathia, Abnormality of the gingiva, Renal cyst, Anteriorly placed anus, Choanal stenosis, H... |
ORPHA:798 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Anal atresia |
ORPHA:93950 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma... |
ORPHA:2751 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Splenomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:235200 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... |
OMIM:220150 |
Neu-Laxova Syndrome |
|
Abnormality of the philtrum, Spina bifida, Micrognathia, Trismus, Submucous cleft hard palate, De... |
ORPHA:2671 |
Cohen Syndrome |
|
Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philt... |
OMIM:216550 |
Autosomal Dominant Cutis Laxa |
|
Bladder diverticulum, Small bowel diverticula, Unilateral renal agenesis, Pyelonephritis |
ORPHA:90348 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Malar flattening,... |
ORPHA:79113 |
Acrodysostosis |
|
Delayed eruption of teeth, Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Open ... |
ORPHA:950 |
Dysostosis, Stanescu Type |
|
Narrow nasal bridge, Abnormal dental enamel morphology, Abnormality of the dentition, Abnormal na... |
ORPHA:1798 |
15q26 overgrowth syndrome |
|
Mandibular prognathia, Renal agenesis, Abnormality of the kidney, Prominent nose, Micrognathia, B... |
DECIPHER:81 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Wide nose, Prominent nasal bridge, Carious teeth, Hypoplasia of the ma... |
ORPHA:50814 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Convex nasal ridge, Abnormal palate morphology |
ORPHA:1540 |
Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Non-mi... |
ORPHA:1071 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypospadias, Depressed nasal bridge, Urolithiasis, Hyperuricosuria, Wide mou... |
OMIM:300661 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Hydroureter, Fetal megacystis, Intestinal malrotation |
OMIM:249210 |
Goldberg-Shprintzen Syndrome |
|
Aganglionic megacolon, Prominent nasal bridge, Hypoplasia of the maxilla, Bulbous nose, Wide nasa... |
OMIM:609460 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly |
ORPHA:99931 |
Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Abnormal dental morphology, Anteverted nares, Abnormality of the dentition, Hypoplasia... |
ORPHA:238468 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Anteverted nares, Micrognathia, Submucous cleft hard palate, Unilateral cleft lip, Unilateral cle... |
OMIM:619122 |
Ear-Patella-Short Stature Syndrome |
|
Hypoplasia of penis, Hypospadias, Micrognathia, Hypoplasia of the maxilla, Epispadias, High, narr... |
ORPHA:2554 |
Birk-Barel Syndrome |
|
Microretrognathia, Tented upper lip vermilion, High palate, Short philtrum, Submucous cleft soft ... |
OMIM:612292 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Anteverted nares, Hypoplasia of the maxilla, Bulbous nose, Thin vermilion border, High palate, Lo... |
ORPHA:481152 |
Treacher Collins Syndrome 1 |
|
Choanal atresia, Cleft soft palate, Micrognathia, Bilateral microphthalmos, Cleft palate, Wide mo... |
OMIM:154500 |
White-Kernohan Syndrome |
|
Thin upper lip vermilion, Hydroureter, Depressed nasal bridge, Anteverted nares, Tented upper lip... |
OMIM:619426 |
Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Renal dysplasia, Oral mucosal blisters, Urinary bladder inflammation, Congeni... |
ORPHA:79403 |
Marshall-Smith Syndrome |
|
Irregular dentition, Anteriorly placed anus, Glossoptosis, Choanal stenosis, High palate, Short p... |
OMIM:602535 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Bladder diverticulum, Umbilical hernia, Patent ductus arteriosus, Cleft soft palate |
OMIM:614557 |
Atelosteogenesis, Type Iii |
|
Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Malar flattening |
OMIM:108721 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Anal atresia, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia... |
ORPHA:2973 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Rieger anomaly, Hypoplasia of the maxilla, Hydrocephalus, Malar flattening, Agenesis of corpus ca... |
OMIM:109120 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... |
OMIM:618278 |
Iniencephaly |
|
Encephalocele, Renal agenesis, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Orofac... |
ORPHA:63259 |
Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Diastema, Hypoplasia of the maxilla, Short philtrum, Over... |
OMIM:619142 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Microphthalmia, Depressed nasal bridge, Wide nasal bridge |
OMIM:167730 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Crowded maxillary incisors, Hypoplasia of the maxilla, Mandibular prognathia |
ORPHA:397973 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Thin upper lip vermilion, Dental crowding, Persistence of primary teeth, Micrognathia, Hypoplasia... |
OMIM:170390 |
Arthrogryposis, Distal, Type 3 |
|
Micrognathia, Submucous cleft hard palate, Cleft palate, High palate, Bifid uvula |
OMIM:114300 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Underdeveloped nasal alae, Hypoplasia of the maxilla, Wide nasal bridge, Cleft palate, Aplasia/Hy... |
ORPHA:306542 |
Velocardiofacial Syndrome |
|
Underdeveloped nasal alae, Bulbous nose, Submucous cleft hard palate, Velopharyngeal insufficienc... |
OMIM:192430 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Narrow nasal bridge, Dental crowding, Prominent nose, High, narrow palate, Patent ductus arterios... |
OMIM:300967 |
Campomelic Dysplasia |
|
Irregular dentition, Depressed nasal bridge, Hypospadias, Spina bifida, Micrognathia, Carious tee... |
OMIM:114290 |
Recon Progeroid Syndrome |
|
Prominence of the premaxilla, Dental crowding, Anteverted nares, Prominent nasal bridge, Narrow n... |
OMIM:620370 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Microcolon, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis |
OMIM:619362 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Crouzon Syndrome |
|
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Hydrocephalus, High palate, De... |
OMIM:123500 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Anteverted nares, Dental crowding, Broad nasal tip, Hypoplasia of the maxi... |
OMIM:617402 |
Craniosynostosis 2 |
|
Supernumerary tooth, Cleft soft palate |
OMIM:604757 |
Aarskog-Scott Syndrome |
|
Anteverted nares, Cleft upper lip, Hypoplasia of the maxilla, Wide nasal bridge, Cleft palate, Cu... |
OMIM:305400 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Prominent nose, L... |
ORPHA:2636 |
Pycnodysostosis |
|
Obtuse angle of mandible, Delayed eruption of primary teeth, Persistence of primary teeth, Promin... |
ORPHA:763 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Thin upper lip vermilion, Rieger anomaly, Anal stenosis, Hypospadias, Hypoplasia of the maxilla, ... |
OMIM:180500 |
Cohen Syndrome |
|
Macrodontia, Aplasia/Hypoplasia of the tongue, Prominent nasal bridge, Abnormality of the dentiti... |
ORPHA:193 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Dental crowding, Urinary incontinence, Cleft hard palate, Widely spaced te... |
ORPHA:2152 |
Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Submucous cleft hard palate |
ORPHA:209908 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Atrioven... |
OMIM:306955 |
Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... |
ORPHA:324410 |
Vater/Vacterl Association |
|
Renal dysplasia, Occipital encephalocele, Abnormal nasopharynx morphology, Hypospadias, Renal age... |
OMIM:192350 |
Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Kagami-Ogata Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Patent ductus ... |
OMIM:608149 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly |
ORPHA:42 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Cleft soft palate, Micrognathia |
ORPHA:93316 |
Gorlin-Chaudhry-Moss Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Patent ductus arteriosus, Oligodontia, U... |
ORPHA:2095 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Dental crowding, Urinary incontinence, Cleft hard palate, Short philtrum, ... |
ORPHA:261537 |
Coffin-Siris Syndrome 12 |
|
Anteverted nares, Hypospadias, Prominent nasal bridge, Depressed nasal bridge, Underdeveloped nas... |
OMIM:619325 |
Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Intestinal malrotation, Epispadias, My... |
OMIM:258040 |
Acrofacial Dysostosis, Cincinnati Type |
|
Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Cleft palate,... |
OMIM:616462 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Optic disc hypoplasia, Optic nerve hypoplasia, Broad nasal tip, Hypoplasia of the maxilla, Patent... |
ORPHA:79345 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Megacystis, ... |
ORPHA:2241 |
Acrorenal-Mandibular Syndrome |
|
Renal agenesis, Micrognathia, Abnormality of the ureter, Narrow palate, Aplasia of the bladder, H... |
OMIM:200980 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Depressed nasal bridge, Rectal fistula, Fetal pyelectasis, B... |
ORPHA:49 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Pyloric stenosis, Submucous cleft hard palate, Lateral ventricle dilata... |
ORPHA:457279 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Dental crowding, Urinary incontinence, Cleft hard palate, Short philtrum, ... |
ORPHA:261552 |
Van Den Ende-Gupta Syndrome |
|
Depressed nasal bridge, Dental crowding, Underdeveloped nasal alae, Micrognathia, High, narrow pa... |
OMIM:600920 |
Osteoglophonic Dysplasia |
|
Delayed eruption of teeth, Mandibular prognathia, Anteverted nares, Hypospadias, Depressed nasal ... |
OMIM:166250 |
Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Wide nose, Anteverted nares, Underdeveloped nas... |
OMIM:209885 |
Renal Agenesis, Bilateral |
|
Renal agenesis, Non-midline cleft lip, Depressed nasal ridge, Tracheoesophageal fistula, Cleft pa... |
ORPHA:1848 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence |
OMIM:192445 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Anteverted nares, Hypoplasia of the maxilla, Thick vermilion border, Long phil... |
ORPHA:228396 |
Neu-Laxova Syndrome 1 |
|
Wide nose, Renal agenesis, Spina bifida, Swollen lip, Cleft upper lip, Micrognathia, Patent ductu... |
OMIM:256520 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Restrictive Dermopathy |
|
Ureteral duplication, Aplasia/Hypoplasia involving the nose, Natal tooth, Hypospadias, Choanal at... |
ORPHA:1662 |
Chand Syndrome |
|
Hydroureter, Depressed nasal bridge, Cleft palate, Agenesis of permanent teeth, Abnormal oral fre... |
ORPHA:1401 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Thin upper lip vermilion, Renal insufficiency, Renal agenesis, Ectopic kidney, Bulbous nose, Wide... |
ORPHA:140952 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Prominent nose, Micrognathia, High, narrow palate, Hypoplasia of the maxilla, Hi... |
OMIM:180849 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertroph... |
ORPHA:79330 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Submucous cleft hard palate, Bifid uvula |
OMIM:619239 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:201475 |
Viss Syndrome |
|
Chronic gastritis, Micrognathia, High, narrow palate, High palate, Broad uvula, Bifid uvula, Micr... |
OMIM:619472 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi... |
ORPHA:105 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Aplasia of the nasal bone, Prominent nasal bridge, Micrognathia, Hypop... |
OMIM:601812 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Floating-Harbor Syndrome |
|
Long nose, Hypoplasia of the maxilla, Renal cyst, Nephrocalcinosis, Oligodontia, Short philtrum, ... |
ORPHA:2044 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:608013 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Leukocytosis, Abnormality of neutrophil physiology, Impaired neutrophil c... |
ORPHA:2968 |
Wiedemann-Rautenstrauch Syndrome |
|
Optic disc hypoplasia, Wide penis, Downturned corners of mouth, Short philtrum, Vesicoureteral re... |
ORPHA:3455 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Wide nose, Hypoplasia of the maxilla, Bilateral microphthalmos, Recurrent upper respiratory tract... |
ORPHA:2399 |
Doors Syndrome |
|
Thrombocytosis, Double outlet right ventricle |
ORPHA:79500 |
Ureterocele |
|
Duplicated collecting system, Ureterocele |
OMIM:191650 |
Bartsocas-Papas Syndrome 1 |
|
Anal atresia, Anal stenosis, Underdeveloped nasal alae, Ectopic kidney, Cleft upper lip, Hypoplas... |
OMIM:263650 |
Mowat-Wilson Syndrome |
|
Prominent nasal tip, Delayed eruption of teeth, Hypospadias, Abnormality of the kidney, Aganglion... |
OMIM:235730 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Neurogenic bladder, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus trac... |
OMIM:600145 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Unilateral renal agenesis, D-2-hydroxyglutaric aciduria, Thin vermilion border, Long philtrum, Re... |
ORPHA:99646 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Mandibular prognathia, Glomerulopathy, Renal insufficiency, Multicystic kidney dysplasia, Hypospa... |
ORPHA:93111 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
Double Outlet Right Ventricle |
|
Depressed nasal bridge, Intestinal malrotation, Submucous cleft hard palate, Cleft palate, Narrow... |
ORPHA:3426 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Anteverted nares, Spina bifida, Hiatus hernia, Cleft upper lip, Par... |
OMIM:304050 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Submucous cleft hard palate, Chordee, Hypospadias, Narrow nose |
OMIM:618891 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Urinary incontinence, Long nose, Downturned corners of mouth, High palate, Pe... |
OMIM:619522 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Ablepharon Macrostomia Syndrome |
|
Hypoplasia of penis, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Hypopla... |
ORPHA:920 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Hypospadias, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, ... |
OMIM:613803 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Hypospadias, Depressed nasal bridge, Ectopic kidney, Cleft upper lip, Patent ductus arteriosus, S... |
OMIM:607872 |
Native American Myopathy |
|
Micrognathia, Cleft palate, Downturned corners of mouth, High palate, Submucous cleft soft palate... |
ORPHA:168572 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Short mandibular condyles, Hypoplasia of the maxilla |
OMIM:264270 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Anteverted nares, Micrognathia, Hypoplasia of the maxilla, Hydrocephalus, Dental malocclusion, Na... |
OMIM:182212 |
Limb-Mammary Syndrome |
|
Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Malar flatte... |
ORPHA:69085 |
Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Hypoplasia of the maxilla |
OMIM:608154 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Intestinal malrotation, Megacystis, Hydronephrosis, Microcolon |
OMIM:619431 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Splenomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:465508 |
Weill-Marchesani Syndrome 1 |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Patent ductus arteriosus, Microspherophakia, N... |
OMIM:277600 |
Tolchin-Le Caignec Syndrome |
|
Prominent nose, Micrognathia, Submucous cleft hard palate, Wide nasal bridge, High palate, Narrow... |
OMIM:618971 |
Sandhoff Disease |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly |
OMIM:268800 |
Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly |
OMIM:617022 |
Saethre-Chotzen Syndrome |
|
Depressed nasal bridge, Prominent nasal bridge, Open bite, Hypoplasia of the maxilla, Cleft palat... |
ORPHA:794 |
Cowden Syndrome 5 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... |
OMIM:615108 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Prominent nose, Long nose, Micrognathia, Bulbous nose, Patent ductus arteriosus, Submucous cleft ... |
ORPHA:3047 |
Congenital Tracheal Stenosis |
|
Abnormality of the kidney, Abnormal stomach morphology, Patent ductus arteriosus, Abnormality of ... |
ORPHA:141127 |
Dyskeratosis Congenita |
|
Esophageal stenosis, Malabsorption, Abnormality of the dentition, Carious teeth, Hypoplasia of th... |
ORPHA:1775 |
Angelman Syndrome |
|
Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, Macroglossia, Wi... |
OMIM:105830 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:601809 |
Igg4-Related Kidney Disease |
|
Renal insufficiency, Proteinuria, Urinary bladder inflammation, Renal interstitial immunoglobulin... |
ORPHA:449395 |
Peters-Plus Syndrome |
|
Ureteral duplication, Short lingual frenulum, Micrognathia, Hypoplasia of the maxilla, Anteriorly... |
OMIM:261540 |
Cowden Syndrome 6 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... |
OMIM:615109 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Anteverted nares, Micrognathia, Hypoplasia of the maxilla, High, nar... |
ORPHA:2462 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v... |
OMIM:602782 |
Meier-Gorlin Syndrome 1 |
|
Death in infancy, Micrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Thick vermi... |
OMIM:224690 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
Craniofacial-Deafness-Hand Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose |
OMIM:122880 |
Weill-Marchesani Syndrome 2 |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Patent ductus arteriosus, Microspherophakia, N... |
OMIM:608328 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa morphology, Underdevelo... |
OMIM:305100 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Dilated cardiomyopathy, Enlarged kidney, Cardiomegaly |
OMIM:608836 |
Aicardi Syndrome |
|
Intestinal polyposis, Prominence of the premaxilla, Malabsorption, Hiatus hernia, Cleft upper lip... |
ORPHA:50 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Hypoplasia of the maxilla |
ORPHA:3044 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:308552 |
Cowden Syndrome 1 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... |
OMIM:158350 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:614921 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
Myhre Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Prominent nasal bridge, Hypoplasia of the maxill... |
OMIM:139210 |
Stickler Syndrome |
|
Anteverted nares, Depressed nasal bridge, Abnormal dental enamel morphology, Cleft upper lip, Ope... |
ORPHA:828 |
Diphallia |
|
Ureteral duplication, Renal malrotation, Rectoperineal fistula, Hypospadias, Distal urethral dupl... |
ORPHA:227 |
Fucosidosis |
|
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiomegaly |
OMIM:230000 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
Distal Deletion 19P |
|
Hypoplasia of the maxilla, Umbilical hernia, Short philtrum, Cleft palate |
ORPHA:96129 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:228308 |
Abetalipoproteinemia |
|
Hepatomegaly, Reticulocytosis, Cardiomegaly, Acanthocytosis, Anemia |
ORPHA:14 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly |
OMIM:620306 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Splenomegaly, Cardiomegaly |
OMIM:232300 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Narrow nasal bridge, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Bulbous ... |
OMIM:259600 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Wide nose, Tented upper lip vermilion, Depressed nasal bridge, Anteverted ... |
ORPHA:96334 |
Greenberg Dysplasia |
|
Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Large placenta, Depressed nasal ... |
OMIM:215140 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Short uvula, Lens coloboma, Submucous cleft hard palate, Downturned corn... |
OMIM:619539 |
Meier-Gorlin Syndrome 4 |
|
Hypoplasia of the maxilla, Thick lower lip vermilion, Micrognathia, Narrow mouth |
OMIM:613804 |
Ogden Syndrome |
|
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... |
OMIM:300855 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal aortic valve morphology, Abnormal mitral valve... |
ORPHA:581 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Enlarged kidney |
OMIM:252500 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Hypoplasia of the maxilla, Periodontitis, Malar flattening |
OMIM:231070 |
Saethre-Chotzen Syndrome |
|
Long nose, Hypoplasia of the maxilla, Cleft of chin, Narrow palate, Cleft palate, Buphthalmos, Ma... |
OMIM:101400 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, Depressed nasal bridge, Micrognathia, Bulbous nose, High palate, Co... |
OMIM:614437 |
Craniosynostosis And Dental Anomalies |
|
Delayed eruption of teeth, Mandibular prognathia, Wide nose, Depressed nasal bridge, Dental crowd... |
OMIM:614188 |
Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Cardiomegaly, Chronic lymphatic leukemia, Hepatosplenomegal... |
ORPHA:51 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega... |
ORPHA:75565 |
Liver Disease, Severe Congenital |
|
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Thrombocytopenia,... |
OMIM:619991 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Aprosencephaly, Bifid uvula, Micrognathia |
OMIM:601374 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:365 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:137675 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Cardiomegaly |
ORPHA:97297 |
Cleidocranial Dysplasia 2 |
|
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth |
OMIM:620099 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Cardiomegaly, Microcytic anemia, Splenomegaly, Thrombocytopenia |
OMIM:256040 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney |
OMIM:130650 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Polycythemia, Visceromegal... |
ORPHA:116 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetralogy of Fallot |
ORPHA:3472 |
Williams Syndrome |
|
Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Ventricular septal defe... |
ORPHA:904 |
Primrose Syndrome |
|
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Hypoplasia of the maxilla, Thick lower... |
OMIM:259050 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |
Generalized Arterial Calcification Of Infancy |
|
Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly |
ORPHA:51608 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla |
OMIM:300106 |