Gombo Syndrome |
|
Microphthalmia, Microcephaly, Radial deviation of finger, Clinodactyly, Brachydactyly |
OMIM:233270 |
Syndactyly Type 2 |
|
Postaxial foot polydactyly, Camptodactyly of finger, 3-4 finger syndactyly, Mesoaxial polydactyly... |
ORPHA:93403 |
Polydactyly, Preaxial Ii |
|
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Preaxial foot polydactyly,... |
OMIM:174500 |
Synpolydactyly 1 |
|
Postaxial foot polydactyly, 2nd-5th toe middle phalangeal hypoplasia, 3-4 finger syndactyly, Y-sh... |
OMIM:186000 |
Polydactyly, Postaxial, Type A1 |
|
Postaxial foot polydactyly, Syndactyly, Preaxial foot polydactyly, Broad thumb, Postaxial hand po... |
OMIM:174200 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Macrocephaly, Polymicrogyria, Hydrocephalus, Syndactyly, Megalencephaly, Thick corpus callosum, P... |
OMIM:615938 |
Syndactyly, Type Iv |
|
Polydactyly, Postaxial polydactyly, 1-5 finger complete cutaneous syndactyly, Supernumerary metac... |
OMIM:186200 |
Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Splenomegaly, Anemia |
ORPHA:294 |
Polycystic Kidney Disease 5 |
|
Hepatosplenomegaly, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney,... |
OMIM:617610 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Short distal phalanx of hallux, Macrocephaly, Small thenar eminence, Aplasia/Hypoplasia of the di... |
ORPHA:3246 |
Syndactyly Type 1 |
|
Toe syndactyly, Finger syndactyly, Symphalangism affecting the phalanges of the hand |
ORPHA:93402 |
Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly, Microcephaly |
OMIM:271109 |
Syndactyly, Type Iii |
|
4-5 finger syndactyly, Short 5th finger, Syndactyly, Absent middle phalanx of 5th finger |
OMIM:186100 |
Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
Hepatorenocardiac Degenerative Fibrosis |
|
Hepatosplenomegaly, Renal interstitial fibrosis, Hepatocellular carcinoma, Jaundice, Enlarged kid... |
OMIM:619902 |
Hallux Varus And Preaxial Polysyndactyly |
|
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly |
OMIM:234280 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Reticulocytosis, Anemia of inadequate production, Cholelithiasis, Splenomegaly |
OMIM:224100 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
Congenital Radioulnar Synostosis |
|
Congenital hip dislocation, Limited pronation/supination of forearm, Polydactyly, Dislocated radi... |
ORPHA:3269 |
Brachydactyly, Type C |
|
Ulnar deviation of the 3rd finger, Enlarged epiphysis of the proximal phalanx of the 2nd finger, ... |
OMIM:113100 |
Alpha-Thalassemia |
|
Jaundice, Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Cholel... |
ORPHA:846 |
Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Abnormal hip bone morphology, Finger syndactyly, Abnormality of the upper limb, Bilateral single ... |
ORPHA:1891 |
Nevus Comedonicus Syndrome |
|
Spina bifida, Preaxial polydactyly, Finger syndactyly, Toe syndactyly, Spina bifida occulta, Micr... |
ORPHA:64754 |
Camptosynpolydactyly, Complex |
|
Camptodactyly, Syndactyly, Polydactyly, Cutaneous syndactyly |
OMIM:607539 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Holoprosencephaly, Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, 3-4 finger syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalange... |
OMIM:174700 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microcephaly, Microphthalmia |
OMIM:616335 |
Gallbladder Disease 1 |
|
Cholangitis, Jaundice, Cholestasis, Pancreatitis, Bile duct proliferation, Hepatic fibrosis, Chol... |
OMIM:600803 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Polydactyly, Postaxial, Type A5 |
|
Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis |
OMIM:263450 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Postaxial polydactyly |
OMIM:613094 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Polydactyly, Occipital encephalocele, Microphthalmia, Microcephaly, Talipes equino... |
OMIM:613885 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly, Microcephaly |
OMIM:241000 |
Acropectorovertebral Dysplasia |
|
Short distal phalanx of finger, Camptodactyly of finger, Spina bifida, Finger syndactyly, Synosto... |
ORPHA:957 |
Protoporphyria, Erythropoietic, X-Linked |
|
Iron deficiency anemia, Cholelithiasis, Elevated hepatic transaminase |
OMIM:300752 |
Mmep Syndrome |
|
Triphalangeal thumb, Microcephaly, Microphthalmia, Split foot |
ORPHA:3434 |
Nephronophthisis 16 |
|
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Cholestasis, Renal ... |
OMIM:615382 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Biliary Atresia, Extrahepatic |
|
Jaundice, Extrahepatic biliary duct atresia, Bile duct proliferation, Atretic gallbladder, Hepato... |
OMIM:210500 |
Jawad Syndrome |
|
Primary microcephaly, Hallux valgus, Postaxial polydactyly, Short middle phalanx of the 5th finge... |
OMIM:251255 |
Syndactyly Type 5 |
|
Short distal phalanx of finger, Camptodactyly of finger, 3-4 finger syndactyly, Ulnar deviation o... |
ORPHA:93406 |
Acropectoral Syndrome |
|
Finger syndactyly, Preaxial hand polydactyly |
ORPHA:85203 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect, Anophthalmia, Microphthalmia |
OMIM:600776 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Jaundice, Pigment gallstones, Spontaneous hemolytic crises, Impaired neutrophil bactericidal acti... |
OMIM:613470 |
Wahab Syndrome |
|
Camptodactyly, Short thumb, Short metacarpal, Syndactyly, Adducted thumb, Short palm, Clinodactyl... |
OMIM:615170 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Jaundice, Reticulocytosis, Normocytic anemia, Cholecystitis, Normochromic anemia, Nonspherocytic ... |
OMIM:235700 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Duplication of metatarsal bones, Syndactyly, Microcephaly, Cutaneous finger syndactyly, Aplasia/H... |
OMIM:600384 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Rocker bottom foot, Microcephaly, Cerebellar hypoplasia, Talipes equinovarus, Age... |
OMIM:616570 |
Oculocerebrocutaneous Syndrome |
|
Congenital hip dislocation, Orbital encephalocele, Anophthalmia, Dandy-Walker malformation, Micro... |
OMIM:164180 |
Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Short toe, Syndactyly |
OMIM:614341 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Hydronephrosis, Abnormal renal physiology, Tubulointerstitial... |
ORPHA:93109 |
Syndactyly Type 3 |
|
Camptodactyly of finger, Short toe, Finger syndactyly |
ORPHA:93404 |
Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Immunodeficiency, Common Variable, 6 |
|
Hydronephrosis, Glomerulonephritis, Stage 5 chronic kidney disease, Enlarged kidney, Macroscopic ... |
OMIM:613496 |
Hyperbiliverdinemia |
|
Cholestasis, Cholelithiasis, Decreased liver function |
OMIM:614156 |
Syndactyly Type 4 |
|
Camptodactyly of finger, Hand polydactyly, Short tibia, Toe syndactyly, 1-5 finger syndactyly, Fo... |
ORPHA:93405 |
Santos Syndrome |
|
Oligodactyly, Polydactyly, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Metatarsus ad... |
OMIM:613005 |
Acalvaria |
|
Spina bifida, Hydrocephalus, Holoprosencephaly, Postaxial hand polydactyly, Aplasia/Hypoplasia of... |
ORPHA:945 |
Acropectorovertebral Dysplasia |
|
Short thumb, Capitate-hamate fusion, Finger syndactyly, Synostosis of carpal bones, Toe syndactyl... |
OMIM:102510 |
Hemoglobin H Disease |
|
HbH hemoglobin, Hemolytic anemia, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly |
OMIM:613978 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Spherocytosis, Type 1 |
|
Jaundice, Reticulocytosis, Hemolytic anemia, Spherocytosis, Cholelithiasis, Splenomegaly |
OMIM:182900 |
Anencephaly 2 |
|
Anophthalmia, Anencephaly |
OMIM:619452 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Radioulnar synostosis, Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger |
ORPHA:71289 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Hepatomegaly, Splenomegaly, Anemia |
ORPHA:46532 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Primary microcephaly, Thin corpus callosum, Partial agenesis of the corpus callosum, Dysgenesis o... |
OMIM:615771 |
Frontal Encephalocele |
|
Encephalocele, Macrocephaly, Hydrocephalus, Spina bifida, Cerebral calcification, Aplasia/Hypopla... |
ORPHA:1931 |
Benign Recurrent Intrahepatic Cholestasis |
|
Hepatocellular carcinoma, Jaundice, Cholestatic liver disease, Pancreatitis, Elevated hepatic tra... |
ORPHA:65682 |
Ectrodactyly-Polydactyly Syndrome |
|
Camptodactyly of finger, Ectrodactyly, Finger syndactyly, Abnormal metacarpal morphology, Postaxi... |
ORPHA:1892 |
Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Ulnar Hemimelia |
|
Abnormal calcification of the carpal bones, Aplasia of metacarpal bones, Abnormality of the humer... |
ORPHA:93320 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Dermatoglyphic ridges abnormal, Camptodactyly, Small thenar eminence, Spina bifida, Small hypothe... |
OMIM:211960 |
Split-Hand/Foot Malformation 4 |
|
Aplasia/Hypoplasia of metatarsal bones, Ectrodactyly, Syndactyly, Aplasia/Hypoplasia of the phala... |
OMIM:605289 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Cholelithiasis, Jaundice, Hepatomegaly, Intrahepatic cholestasis |
OMIM:605479 |
Brachydactyly, Type A2 |
|
Medially deviated second toe, Hallux valgus, Aplasia/Hypoplasia of the middle phalanx of the 2nd ... |
OMIM:112600 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Brachydactyly Type A7 |
|
Medially deviated second toe, Broad distal phalanx of the thumb, Hallux valgus, Short middle phal... |
ORPHA:93397 |
Microphthalmia With Brain And Digit Anomalies |
|
Inferior cerebellar vermis hypoplasia, Postaxial foot polydactyly, Proximal placement of thumb, F... |
ORPHA:139471 |
Liebenberg Syndrome |
|
2-3 finger syndactyly, Metaphyseal widening, Joint contracture of the 5th finger, Abnormal carpal... |
OMIM:186550 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced red cell pyruvate kinase level, Jaundice, Reticulocytosis, Hepatomegaly, Decreased hemogl... |
OMIM:266200 |
Crossed Polysyndactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly |
ORPHA:2935 |
Humero-Radial Synostosis |
|
Elbow ankylosis, Meningocele, Abnormality of the wrist, Aplasia/Hypoplasia of the thumb, Microcep... |
ORPHA:3265 |
Chromosome 2Q35 Duplication Syndrome |
|
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly |
OMIM:185900 |
Microphthalmia With Limb Anomalies |
|
Foot oligodactyly, Postaxial foot polydactyly, 2-3 toe cutaneous syndactyly, Hip dislocation, Met... |
OMIM:206920 |
Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Dilated cardiomyopathy, Clinodactyly, Aplasia of the middle phalanx of the hand, Brac... |
OMIM:610140 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Jaundice, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Cirrhosis, Cholelithiasi... |
OMIM:211600 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Short thumb, Finger syndactyly, Synostosis of carpal bones, Aplasia/Hypoplasia of the hallux, Toe... |
ORPHA:157801 |
Microcephaly-Cardiomyopathy |
|
Sandal gap, Microcephaly, Dilated cardiomyopathy, Clinodactyly of the 5th finger |
OMIM:251220 |
Brachydactyly-Syndactyly Syndrome |
|
Oligodactyly, Camptodactyly, Finger syndactyly, Syndactyly, Short digit, Short phalanx of finger,... |
OMIM:610713 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the elbow, Radioulnar synostosis, Microcephaly, Clinodactyly of... |
ORPHA:3268 |
Low Phospholipid-Associated Cholelithiasis |
|
Hepatocellular carcinoma, Cholangitis, Liver abscess, Neoplasm of the liver, Intrahepatic cholest... |
ORPHA:69663 |
Adams-Oliver Syndrome 4 |
|
Umbilical hernia, Microphthalmia, Aplasia of the middle phalanx of the 4th toe, Short toe, Absent... |
OMIM:615297 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Agenesis of cerebellar vermis, Postaxial polydactyly |
OMIM:213010 |
Greig Cephalopolysyndactyly Syndrome |
|
Macrocephaly, Postaxial foot polydactyly, Hydrocephalus, Umbilical hernia, Finger syndactyly, Pre... |
ORPHA:380 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Camptodactyly of finger, Postaxial foot polydactyly, Short distal phalanx of finger, Abnormal met... |
ORPHA:1113 |
Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Acute hepatic failure, Hepatomegaly, Splenomegaly |
ORPHA:882 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal hip bone morphology, Syndactyly, Polydactyly, Upper limb phocomelia |
ORPHA:294975 |
Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Hepatomegaly, Microcytic anemia, Hepatitis, Thrombocytopenia, Cholel... |
ORPHA:848 |
Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Microcytic anemia, Cirrhosis, Decreased liver function |
ORPHA:79278 |
Fibular Hemimelia |
|
Oligodactyly, Short tibia, Toe syndactyly, Short toe, Fibular aplasia, Abnormal morphology of uln... |
ORPHA:93323 |
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the distal phalanx of the 2nd toe, 1-2 toe complete cutaneous syndactyly, A... |
ORPHA:488232 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
Aplasia Cutis Congenita |
|
Toe syndactyly, Spinal dysraphism, Finger syndactyly |
ORPHA:1114 |
Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Jaundice, Reticulocytosis, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Short distal phalanx of finger, Short thumb, Overlapping fingers, Overlapping toe, Hallux varus, ... |
OMIM:618167 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Clinodactyly, Syndactyly, Microphthalmia, Brachydactyly |
OMIM:610023 |
15Q11Q13 Microduplication Syndrome |
|
Macrocephaly, Finger syndactyly, Clinodactyly of the 5th finger |
ORPHA:238446 |
Fanconi Anemia, Complementation Group G |
|
Abnormal thumb morphology, Microcephaly, Microphthalmia |
OMIM:614082 |
Nephronophthisis 19 |
|
Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Malformation ... |
OMIM:616217 |
Syndactyly, Type V |
|
Short distal phalanx of finger, Camptodactyly of finger, Absent distal interphalangeal creases, 4... |
OMIM:186300 |
Craniotelencephalic Dysplasia |
|
Frontal encephalocele, Hydrocephalus, Septo-optic dysplasia, Microphthalmia, Lissencephaly, Micro... |
ORPHA:1528 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:269600 |
Sickle Cell Disease |
|
Jaundice, Leukocytosis, Target cells, Hemolytic anemia, Splenic infarction, Cholelithiasis, Hepat... |
OMIM:603903 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Jaundice, Lymphadenopathy, Anemia |
OMIM:312500 |
Split-Hand/Foot Malformation 6 |
|
Foot oligodactyly, Finger syndactyly, Toe syndactyly, Hand oligodactyly, Split hand, Split foot |
OMIM:225300 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Polydactyly, Meningocele, Microphthalmia, Anencephaly, Postaxial hand polydactyly,... |
OMIM:603194 |
Craniotelencephalic Dysplasia |
|
Frontal encephalocele, Absent septum pellucidum, Microphthalmia, Optic nerve hypoplasia, Lissence... |
OMIM:218670 |
Split-Hand/Foot Malformation 1 |
|
Foot oligodactyly, Ectrodactyly, Syndactyly, Broad hallux, Clinodactyly, Triphalangeal thumb, Han... |
OMIM:183600 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Hepatomegaly, Microcytic anemia, Incre... |
OMIM:603902 |
Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Erythroid hyperplasia, ... |
OMIM:237800 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Microphthalmia, Anencep... |
OMIM:611134 |
Dubin-Johnson Syndrome |
|
Biliary tract abnormality, Jaundice |
OMIM:237500 |
Joubert Syndrome 22 |
|
Postaxial foot polydactyly, Agenesis of cerebellar vermis, Temporal cortical atrophy, Microphthal... |
OMIM:615665 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Pancytopenia, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Hepatic steatosis, Splenomegaly |
OMIM:614480 |
Meckel Syndrome, Type 5 |
|
Postaxial foot polydactyly, Occipital encephalocele, Microphthalmia, Anencephaly, Postaxial hand ... |
OMIM:611561 |
Biemond Syndrome Type 2 |
|
Hydrocephalus, Microphthalmia, Preaxial polydactyly |
ORPHA:141333 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Enlarged kidney |
OMIM:615285 |
Congenital Varicella Syndrome |
|
Cerebral cortical atrophy, Microcephaly, Microphthalmia |
ORPHA:291 |
Aa Amyloidosis |
|
Proteinuria, Acute kidney injury, Abnormality of the kidney, Chronic kidney disease, Enlarged kid... |
ORPHA:85445 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Aplasia/Hypoplasia of the radius, Spina bifida, Anencephaly |
ORPHA:2476 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Microphthalmia, Syndromic 16 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
Retinitis Pigmentosa 89 |
|
Hepatosplenomegaly, Hepatic fibrosis, Retinal thinning, Micronodular cirrhosis, Hyperautofluoresc... |
OMIM:618955 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Absence of renal corticomedullary differentiation, Polycystic kidney dysplasia, Hyperechogenic ki... |
OMIM:263200 |
Anophthalmia Plus Syndrome |
|
Deviation of finger, Anophthalmia, Spina bifida |
ORPHA:1104 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Erythroleukemia, Familial, Susceptibility To |
|
Anemia, Leukemia, Hepatomegaly, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myel... |
OMIM:133180 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Jaundice, Intrahepatic cholestasis, Portal inflammation, Bile duct proliferation, Hepatomegaly, E... |
OMIM:602347 |
Sclerosing Cholangitis, Neonatal |
|
Ductal bile plugs, Jaundice, Cholestasis, Hepatic bridging fibrosis, Bile duct proliferation, Hep... |
OMIM:617394 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Spinal dysraphism, Long proximal phalanx of finger, Congenital hip dislocation, Slender distal ph... |
OMIM:603546 |
Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
Lissencephaly 8 |
|
Type II lissencephaly, Polymicrogyria, Occipital encephalocele, Microphthalmia, Hypoplasia of the... |
OMIM:617255 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Polymicrogyria, Polydactyly, Hydrocephalus, Syndactyly, Microphthalmia, Megalencephaly, Progressi... |
OMIM:602501 |
Congenital Bile Acid Synthesis Defect Type 1 |
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Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Elevated h... |
ORPHA:79301 |
Portal Hypertension, Noncirrhotic, 1 |
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Portal hypertension, Hepatomegaly, Splenomegaly, Elevated hepatic transaminase |
OMIM:617068 |
Beta-Thalassemia Intermedia |
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Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Leukocytosis, Increased HbA2 hemoglobin, ... |
ORPHA:231222 |
Bardet-Biedl Syndrome 13 |
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Polydactyly |
OMIM:615990 |
Caroli Disease |
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Cholangitis, Jaundice, Leukocytosis, Liver abscess, Intrahepatic cholestasis, Cholestasis, Elevat... |
ORPHA:53035 |
Protoporphyria, Erythropoietic, 1 |
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Cholelithiasis, Hepatic failure, Hemolytic anemia |
OMIM:177000 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
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Jaundice, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hepatic bri... |
OMIM:619658 |
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
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3-4 finger syndactyly, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypopl... |
OMIM:609432 |
Pelvis-Shoulder Dysplasia |
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Camptodactyly of finger, Prominent protruding coccyx, Bilateral microphthalmos, Hydranencephaly, ... |
ORPHA:2839 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
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Macrocephaly, Cerebral atrophy, Spindle-shaped finger, Cutaneous syndactyly, Delayed epiphyseal o... |
ORPHA:166024 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
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Jaundice, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Elevated ci... |
OMIM:620010 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
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Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal hypertension, Micronodular cirrhosis, Fi... |
OMIM:619849 |
Brachydactyly Type B |
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Short distal phalanx of finger, 2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Syno... |
ORPHA:93383 |
2Q24 Microdeletion Syndrome |
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Camptodactyly of finger, Bullet-shaped distal phalanx of the hallux, Microphthalmia, Long fingers... |
ORPHA:1617 |
Hydrolethalus |
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Hydrocephalus, Absent septum pellucidum, Microphthalmia, Anencephaly, Postaxial hand polydactyly,... |
ORPHA:2189 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
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Focal cortical dysplasia, Hydrocephalus, Cardiomyopathy, Microphthalmia, Abnormal left ventricula... |
OMIM:613155 |
Microphthalmia, Isolated, With Coloboma 4 |
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Microphthalmia |
OMIM:251505 |
Seckel Syndrome 2 |
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Microphthalmia, Microcephaly, Cerebellar hypoplasia, Heart murmur, Clinodactyly of the 5th finger |
OMIM:606744 |
Septooptic Dysplasia |
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Short finger, Optic disc hypoplasia, Polydactyly, Absent septum pellucidum, Optic nerve hypoplasi... |
OMIM:182230 |
Encephalopathy Due To Prosaposin Deficiency |
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Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Mantle Cell Lymphoma |
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Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Gcgr-Related Hyperglucagonemia |
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Neoplasm of the pancreas, Abnormal biliary tract morphology, Cholelithiasis |
ORPHA:438274 |
Split-Hand/Foot Malformation 2 |
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Finger syndactyly, Short metacarpal, Short phalanx of finger, Split hand, Split foot |
OMIM:313350 |
Brachydactyly Type B2 |
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Short distal phalanx of finger, Finger syndactyly, Synostosis of carpal bones, Short toe, Short d... |
ORPHA:140908 |
Bardet-Biedl Syndrome 22 |
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Macrocephaly, Postaxial foot polydactyly, Microcephaly, Polydactyly |
OMIM:617119 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
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Hepatomegaly, Splenomegaly, Fetal ascites |
OMIM:619462 |
Parenteral Nutrition-Associated Cholestasis |
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Jaundice, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Portal hypert... |
ORPHA:567983 |
Splenoportal Vascular Anomalies |
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Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Splenomegaly, Ascites |
OMIM:271500 |
Pancreatic Colipase Deficiency |
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Cholelithiasis, Megaloblastic anemia, Exocrine pancreatic insufficiency |
ORPHA:309108 |
Camptodactyly Syndrome, Guadalajara Type 1 |
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Short distal phalanx of finger, Camptodactyly of finger, Hallux valgus, Spina bifida, Scapular wi... |
ORPHA:1327 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
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Polycystic kidney dysplasia, Enlarged kidney, Asplenia, Cholestasis, Hepatomegaly, Polysplenia, H... |
OMIM:208540 |
Premature Ovarian Failure 12 |
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Microphthalmia |
OMIM:616947 |
Split-Foot Malformation With Mesoaxial Polydactyly |
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Mesoaxial hand polydactyly, 4-5 toe syndactyly, 1-2 toe syndactyly, Split hand, Split foot |
OMIM:616890 |
Combined Saposin Deficiency |
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Optic atrophy, Hepatomegaly, Splenomegaly |
OMIM:611721 |
Czeizel-Losonci Syndrome |
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2-3 finger syndactyly, 3-4 finger syndactyly, Hydrocephalus, Spina bifida, Myelomeningocele, Ectr... |
ORPHA:2437 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
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Type II lissencephaly, Cerebellar hypoplasia, Microphthalmia, Hydrocephalus |
OMIM:614830 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
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Cerebral atrophy, Partial agenesis of the corpus callosum, Hypoplasia of the pons, Simplified gyr... |
OMIM:616171 |
Sickle Cell Anemia |
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Reticulocytosis, Leukocytosis, Hemolytic anemia, Pigment gallstones, Cholestasis, Hypochromic ane... |
ORPHA:232 |
Polydactyly, Postaxial, Type A8 |
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Genu valgum, Postaxial polydactyly |
OMIM:618123 |
Synpolydactyly 2 |
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Polydactyly, Metatarsal synostosis, Toe syndactyly, Carpal synostosis, Metacarpal synostosis, Tar... |
OMIM:608180 |
Acropectoral Syndrome |
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Partial duplication of thumb phalanx, Triphalangeal thumb, Preaxial polydactyly |
OMIM:605967 |
Bardet-Biedl Syndrome 7 |
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Clinodactyly, 2-3 toe syndactyly, Polydactyly, Postaxial polydactyly |
OMIM:615984 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
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Recurrent tonsillitis, Hepatomegaly, Microcytic anemia, Lymphadenopathy, Splenomegaly |
OMIM:618852 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
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Portal hypertension, Hepatomegaly, Splenomegaly, Portal vein thrombosis |
OMIM:610293 |
Curry-Jones Syndrome |
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Finger syndactyly, Microphthalmia, Toe syndactyly, Broad thumb, Abnormality of thumb phalanx, Pre... |
ORPHA:1553 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
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Microphthalmia |
OMIM:251700 |
Red Cell Phospholipid Defect With Hemolysis |
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Intermittent jaundice, Splenomegaly, Reticulocytosis |
OMIM:179700 |
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
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1-4 finger syndactyly, Camptodactyly, 2-3 finger syndactyly, 3-4 finger syndactyly, 2-4 finger sy... |
OMIM:225280 |
Microphthalmia, Syndromic 12 |
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Anophthalmia, Microphthalmia |
OMIM:615524 |
Microphthalmia, Isolated 8 |
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True anophthalmia, Anophthalmia, Microphthalmia, Optic nerve hypoplasia |
OMIM:615113 |
Xk Aprosencephaly Syndrome |
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Abnormal morphology of the radius, Microcephaly, Microphthalmia |
ORPHA:3469 |
Nephronophthisis 2 |
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Renal cortical microcysts, Chronic tubulointerstitial nephritis, Absence of renal corticomedullar... |
OMIM:602088 |
Bile Acid Synthesis Defect, Congenital, 5 |
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Jaundice, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Portal fibrosis, Portal ... |
OMIM:616278 |
Hartsfield Syndrome |
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Encephalocele, Lobar holoprosencephaly, Microphthalmia, Aplasia/Hypoplasia of the corpus callosum... |
ORPHA:2117 |
Immunodeficiency 104 |
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Lymphadenopathy, Hepatomegaly, Splenomegaly, T lymphocytopenia |
OMIM:608971 |
Brachydactyly-Syndactyly, Zhao Type |
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Short fifth metatarsal, Hallux valgus, Toe syndactyly, Short middle phalanx of the 5th finger, Sh... |
ORPHA:93409 |
Ceroid storage disease |
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Hepatic failure, Abnormality of the spleen |
OMIM:214200 |
Renal Dysplasia |
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Enlarged kidney, Abnormal renal calyx morphology, Hydroureter, Abnormal nephron morphology, Multi... |
ORPHA:93108 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
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Asplenia, Enlarged kidney, Cholestasis, Hepatic fibrosis, Hepatomegaly, Cystic renal dysplasia, H... |
OMIM:615415 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
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Type II lissencephaly, Hydrocephalus, Occipital encephalocele, Microphthalmia, Macrocephaly at birth |
ORPHA:324416 |
Hypereosinophilic Syndrome, Idiopathic |
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Myeloproliferative disorder, Hepatomegaly, Splenomegaly, Eosinophilia |
OMIM:607685 |
Immunodeficiency 16 |
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Pancytopenia, Splenomegaly, Coombs-positive hemolytic anemia |
OMIM:615593 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
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Jaundice, Elevated circulating aspartate aminotransferase concentration, Elevated circulating ala... |
OMIM:619868 |
Frontonasal Dysplasia 1 |
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Pericallosal lipoma, Camptodactyly, Anterior basal encephalocele, Microphthalmia, Postaxial hand ... |
OMIM:136760 |
Temtamy Syndrome |
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Macrocephaly, Genu varum, Microphthalmia, Clinodactyly of the 5th finger, Short toe, Aplasia/Hypo... |
ORPHA:1777 |
Hereditary Elliptocytosis |
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Jaundice, Elliptocytosis, Reticulocytosis, Hemolytic anemia, Abnormal erythrocyte morphology, Cho... |
ORPHA:288 |
Autosomal Dominant Polycystic Kidney Disease |
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Recurrent urinary tract infections, Stage 5 chronic kidney disease, Chronic kidney disease, Abnor... |
ORPHA:730 |
Dehydrated Hereditary Stomatocytosis |
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Increased hemoglobin concentration, Reticulocytosis, Polycythemia, Hemolytic anemia, Increased me... |
ORPHA:3202 |
Galactose Epimerase Deficiency |
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Jaundice, Hepatomegaly, Splenomegaly |
ORPHA:79238 |
Carpenter Syndrome |
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Polydactyly, Umbilical hernia, Finger syndactyly, Syndactyly, Preaxial foot polydactyly, Toe synd... |
ORPHA:65759 |
Immunodeficiency 42 |
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Hypoplasia of the thymus, Hepatomegaly, Splenomegaly |
OMIM:616622 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
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Short distal phalanx of finger, Short thumb, Proximal placement of thumb, Spina bifida, Tricuspid... |
ORPHA:1120 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
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Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... |
ORPHA:444463 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Agenesis of corpus callosum, Microcephaly, Microphthalmia, Cerebral atrophy |
OMIM:274270 |
Sandhoff Disease |
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Cherry red spot of the macula, Hepatomegaly, Splenomegaly |
ORPHA:796 |
Xeroderma Pigmentosum, Complementation Group G |
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Microcephaly, Microphthalmia |
OMIM:278780 |
Isolated Biliary Atresia |
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Hypopituitarism, Jaundice, Cholestasis, Bile duct proliferation, Atretic gallbladder, Hepatomegal... |
ORPHA:30391 |
Cholestasis-Lymphedema Syndrome |
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Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Elevated hepatic transaminase, Cirrho... |
OMIM:214900 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
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Short distal phalanx of finger, Short thumb, Osseous finger syndactyly, Short distal phalanx of t... |
ORPHA:370010 |
Microphthalmia, Syndromic 8 |
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Microcephaly, Microphthalmia, Split foot |
OMIM:601349 |
Bardet-Biedl Syndrome 10 |
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Polydactyly |
OMIM:615987 |
Braddock-Carey Syndrome 2 |
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Clinodactyly, Microcephaly, Microphthalmia |
OMIM:619981 |
Walker-Warburg Syndrome |
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Macrocephaly, Abnormal cortical gyration, Polymicrogyria, Macrogyria, Hydrocephalus, Absent septu... |
ORPHA:899 |
Congenital Bile Acid Synthesis Defect Type 3 |
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Hepatosplenomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration, Chol... |
ORPHA:79302 |
Congenital Bile Acid Synthesis Defect Type 4 |
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Cholestatic liver disease, Pigmentary retinopathy, Elevated hepatic transaminase, Giant cell hepa... |
ORPHA:79095 |
Nanophthalmos |
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Microphthalmia |
ORPHA:35612 |
Meckel Syndrome, Type 11 |
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Occipital encephalocele, Polydactyly |
OMIM:615397 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
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Abnormal hemoglobin, Thrombocytopenia, Splenomegaly, Anemia |
ORPHA:231393 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
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Microcephaly, Microphthalmia |
ORPHA:2528 |
Microphthalmia With Limb Anomalies |
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Hip dislocation, Short tibia, Abnormality of the upper limb, Toe syndactyly, Broad thumb, Bilater... |
ORPHA:1106 |
Bile Acid Synthesis Defect, Congenital, 3 |
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Ductal bile plugs, Jaundice, Intrahepatic cholestasis, Elevated circulating aspartate aminotransf... |
OMIM:613812 |
Hemoglobin D Disease |
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Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... |
ORPHA:90039 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
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Aplasia/Hypoplasia of metatarsal bones, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the ... |
OMIM:228930 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Mast Cell Sarcoma |
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Mastocytosis, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:66661 |
Isolated Split Hand-Split Foot Malformation |
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Oligodactyly, Absent hand, Finger syndactyly, Aniridia, Split hand |
ORPHA:2440 |
Cofs Syndrome |
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Camptodactyly of finger, Cerebral calcification, Microphthalmia, Microcephaly, Aplasia/Hypoplasia... |
ORPHA:1466 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Anisocytosis, Jaundice, Anemia, Decreased mean corpuscular volume, Hepatomega... |
OMIM:616860 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
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Macrocephaly, Syndactyly, Clinodactyly of the 5th finger, Tapered finger |
OMIM:618725 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Splenomegaly |
ORPHA:417 |
Immunodeficiency 48 |
|
Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly |
OMIM:269840 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Galactosemia Iii |
|
Jaundice, Hepatomegaly, Splenomegaly |
OMIM:230350 |
Crigler-Najjar Syndrome Type 1 |
|
Biliary tract abnormality, Prolonged neonatal jaundice, Abnormality of the liver |
ORPHA:79234 |
17Q12 Microduplication Syndrome |
|
Toe syndactyly, Finger syndactyly, Microphthalmia, Cortical dysplasia |
ORPHA:261272 |
Facial Clefting, Oblique, 1 |
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Deep palmar crease, Microphthalmia |
OMIM:600251 |
Schisis Association |
|
Encephalocele, Spina bifida, Microcephaly, Anencephaly |
ORPHA:63862 |
Hypomelanosis Of Ito |
|
Macrocephaly, Hand polydactyly, Cerebral atrophy, Syndactyly, Microcephaly, Radial deviation of f... |
OMIM:300337 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Proximal Symphalangism |
|
Elbow ankylosis, Camptodactyly of finger, Abnormality of the wrist, Synostosis of carpal bones, F... |
ORPHA:3250 |
Trisomy 1Q |
|
Macrocephaly, Camptodactyly of finger, Hydrocephalus, Toe syndactyly, Cerebellar hypoplasia, Agen... |
ORPHA:261344 |
Retinoschisis 1, X-Linked, Juvenile |
|
Macular atrophy, Retinal atrophy, Retinal detachment, Peripheral cystoid retinal degeneration, Re... |
OMIM:312700 |
Adams-Oliver Syndrome 3 |
|
Short distal phalanx of finger, Absent toe, Short metatarsal, Short palm, Microcephaly, 2-3 toe s... |
OMIM:614814 |
Brachydactyly, Type B2 |
|
Short distal phalanx of finger, Absent phalangeal crease, Aplasia/Hypoplasia of the distal phalan... |
OMIM:611377 |
Progressive Familial Intrahepatic Cholestasis |
|
Cholestasis, Jaundice, Hepatomegaly, Splenomegaly |
ORPHA:172 |
Hereditary Spherocytosis |
|
Jaundice, Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Extramedullary he... |
ORPHA:822 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Spinal dysraphism, Hydrocephalus, Meningocele, Finger syndactyly, Holoprosencephal... |
ORPHA:1908 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Pelvis-Shoulder Dysplasia |
|
Hypoplastic ilia, Congenital hip dislocation, Hypoplastic acetabulae, Hypoplastic scapulae, Micro... |
OMIM:169550 |
Hemochromatosis, Type 2B |
|
Anemia, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Splenomegaly |
OMIM:613313 |
Niemann-Pick Disease, Type B |
|
Abnormal macular morphology, Bone-marrow foam cells, Anemia, Hepatomegaly, Sea-blue histiocytosis... |
OMIM:607616 |
Long Qt Syndrome 8 |
|
Prolonged QTc interval, Syncope, Aborted sudden cardiac death, Syndactyly, Sudden cardiac death, ... |
OMIM:618447 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormality of the elbow, Humeroradial synostosis, Abnormal mor... |
ORPHA:2019 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Pulmonary arterial hypertension, Microphthalmia, Microcephaly, Sandal gap, Hypoplasia of the corp... |
OMIM:300887 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal biliary tract morphology, Abnormal liver parenchyma morphology, Abnormality of the pancreas |
ORPHA:3032 |
Laurin-Sandrow Syndrome |
|
Limb duplication, Absent radius, Absent tibia, Hydrocephalus, Finger syndactyly, Abnormality of t... |
ORPHA:2378 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplasia of the pons, Hypoplasia of the corpus callosum, Anophthalmia, Occipital cortical atrophy |
ORPHA:411986 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Cerebral white matter hypoplasia, Pachygyria, Microcephaly, Clinodactyly, Hypoplasia ... |
OMIM:619091 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Macrocephaly, Hydrocephalus, Metaphyseal cupping, Hypoplasia of the calcaneus, Microphthalmia, Me... |
OMIM:300863 |
Glycogen Storage Disease Ixc |
|
Bile duct proliferation, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Splenomegaly, In... |
OMIM:613027 |
Glycogen Storage Disease Xii |
|
Jaundice, Normocytic anemia, Anemia, Elevated circulating alanine aminotransferase concentration,... |
OMIM:611881 |
Warburg Micro Syndrome 1 |
|
Cerebral atrophy, Overlapping toe, Perisylvian polymicrogyria, Microphthalmia, Microcephaly, Cere... |
OMIM:600118 |
Fountain Syndrome |
|
Macrocephaly, Short distal phalanx of finger, Spina bifida, Abnormal metacarpal morphology, Coars... |
ORPHA:3219 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... |
ORPHA:251380 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
Disorder Of Bile Acid Synthesis |
|
Biliary tract abnormality, Cholestasis, Elevated hepatic transaminase, Abnormality of the liver |
ORPHA:79168 |
Cholestasis-Lymphedema Syndrome |
|
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis,... |
ORPHA:1414 |
Triosephosphate Isomerase Deficiency |
|
Jaundice, Normocytic anemia, Hemolytic anemia, Optic disc pallor, Prolonged neonatal jaundice, Ma... |
OMIM:615512 |
Fanconi Anemia, Complementation Group J |
|
Short thumb, Microphthalmia |
OMIM:609054 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Solitary Median Maxillary Central Incisor |
|
Holoprosencephaly, Anophthalmia, Microcephaly, Microphthalmia |
OMIM:147250 |
Fanconi Anemia, Complementation Group R |
|
Radial dysplasia, Hydrocephalus, Microphthalmia, Microcephaly, Tethered cord, Absent thumb |
OMIM:617244 |
Mirizzi Syndrome |
|
Gallbladder perforation, Jaundice, Pancreatitis, Abnormality of the ductus choledochus, Cholester... |
ORPHA:521219 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatosplenomegaly, Cholestatic liver disease, Hepatomegaly, Prolonged neonatal jaundice, Cirrhos... |
OMIM:616828 |
Curry-Jones Syndrome |
|
Hemimegalencephaly, Polymicrogyria, 2-3 finger syndactyly, Triphalangeal hallux, Microphthalmia, ... |
OMIM:601707 |
Diaphanospondylodysostosis |
|
Enlarged kidney, Horseshoe kidney, Absent in utero rib ossification, Absent in utero ossification... |
OMIM:608022 |
Aminopterin Syndrome Sine Aminopterin |
|
Macrocephaly, Rudimentary postaxial polydactyly of hands, Short thumb, Umbilical hernia, Syndacty... |
OMIM:600325 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
Sialuria |
|
Hepatosplenomegaly, Cholelithiasis, Hepatomegaly, Elevated hepatic transaminase |
ORPHA:3166 |
Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
Joubert Syndrome 40 |
|
Optic nerve hypoplasia, Postaxial polydactyly |
OMIM:619582 |
Orofaciodigital Syndrome Xviii |
|
Short distal phalanx of finger, Preaxial polydactyly, Postaxial polydactyly, Short middle phalanx... |
OMIM:617927 |
Neu-Laxova Syndrome 2 |
|
Spina bifida, Finger syndactyly, Rocker bottom foot, Toe syndactyly, Microcephaly, Cerebellar hyp... |
OMIM:616038 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Cerebral atrophy, Simplified gyral pattern, Microphthalmia, Pachygyria, Microcephaly, Cerebellar ... |
OMIM:251270 |
Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split hand, Split foot |
DECIPHER:46 |
Chiari Malformation Type Ii |
|
Syringomyelia, Cervical myelopathy, Spina bifida, Hydrocephalus, Myelomeningocele, Agenesis of co... |
OMIM:207950 |
Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Retinal degeneration, Splenomegaly, Optic atrophy, Rod-cone dystrophy |
OMIM:602271 |
Meckel Syndrome, Type 3 |
|
Postaxial foot polydactyly, Polydactyly, Hydrocephalus, Occipital encephalocele, Postaxial hand p... |
OMIM:607361 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Abnormality of femur morphology, Aplasia/Hypoplasia of the fibula, Finger syndactyly, Abnormality... |
ORPHA:2141 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Jaundice, Hemophagocytosis, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, Splenomegaly... |
OMIM:603552 |
Summitt Syndrome |
|
Syndactyly |
OMIM:272350 |
Glycogen Storage Disease Vii |
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Jaundice, Reticulocytosis, Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglycerate concentra... |
OMIM:232800 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anisocytosis, Jaundice, Reticulocytosis, Anemia, Hepatomegaly, Anemia of inadequate production, E... |
OMIM:615631 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly |
OMIM:616719 |
Greig Cephalopolysyndactyly Syndrome |
|
Macrocephaly, Postaxial foot polydactyly, Camptodactyly of toe, 3-4 finger syndactyly, Hydrocepha... |
OMIM:175700 |
Craniorachischisis |
|
Sirenomelia, Spinal dysraphism, Bifid sternum, Cervical spina bifida, Myelomeningocele, Anencephaly |
ORPHA:63260 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Macrocephaly, Polymicrogyria, Mitral regurgitation, Abnormally large globe, Postaxial polydactyly... |
OMIM:603387 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Type II lissencephaly, Polymicrogyria, Hydrocephalus, Hypoplasia of the pons, Microphthalmia, Opt... |
OMIM:615181 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Macrocephaly, 3-4 finger syndactyly, Microphthalmia, 2-3 toe syndactyly, Anophthalmia |
OMIM:615877 |
Trisomy 13 |
|
Bilateral single transverse palmar creases, Ectrodactyly, Microphthalmia, Postaxial hand polydact... |
ORPHA:3378 |
Microphthalmia, Syndromic 13 |
|
Microcephaly, Microphthalmia |
OMIM:300915 |
Trimethylaminuria |
|
Neutropenia, Splenomegaly, Anemia |
OMIM:602079 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Cholestasis, Cholesterol gallstones, Hepatitis, Hepatic steatosis, Acute hepatic steatosis, Macro... |
ORPHA:209902 |
Pierpont Syndrome |
|
Short finger, Abnormal cortical gyration, Primary microcephaly, Excessive wrinkling of palmar ski... |
ORPHA:487825 |
Periventricular Nodular Heterotopia 1 |
|
Short finger, Thin corpus callosum, Cerebral hemorrhage, Syndactyly, Cerebellar hypoplasia, Clino... |
OMIM:300049 |
Cholesteryl Ester Storage Disease |
|
Jaundice, Hepatomegaly, Cirrhosis, Hepatic failure, Splenomegaly |
ORPHA:75234 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Joubert Syndrome 16 |
|
Encephalocele, Dandy-Walker malformation, Polydactyly |
OMIM:614465 |
Moebius Syndrome |
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Clinodactyly, Camptodactyly, Syndactyly, Microphthalmia, Lower limb undergrowth, Aplasia/Hypoplas... |
OMIM:157900 |
Fatco Syndrome |
|
Absent hand, Abnormality of fibula morphology, Finger syndactyly, Abnormality of tibia morphology... |
ORPHA:2492 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypopl... |
OMIM:618270 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Sea-blue histiocytosis, Thrombocytopenia, Mediastinal lymphadenopathy, Retinopathy,... |
ORPHA:158029 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Down-sloping shoulders, Camptodactyly, Thin corpus callosum, Microphthalmia, Microcephaly, Cubitu... |
OMIM:619694 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly |
ORPHA:100024 |
Glycogen Storage Disease Ia |
|
Hepatocellular carcinoma, Proteinuria, Enlarged kidney, Decreased glomerular filtration rate, Pan... |
OMIM:232200 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatocellular carcinoma, Elevated hepatic transaminase, Splenomegaly, Cirrhosis |
OMIM:613490 |
Amyloidosis, Familial Visceral |
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Cholestasis, Hepatomegaly, Splenomegaly |
OMIM:105200 |
Osteopetrosis, Autosomal Recessive 8 |
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Anemia, Hepatomegaly, Thrombocytopenia, Optic atrophy, Splenomegaly |
OMIM:615085 |
Autoimmune Hemolytic Anemia, Cold Type |
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Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia |
ORPHA:228312 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
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Type II lissencephaly, Agenesis of cerebellar vermis, Agenesis of corpus callosum, Hydrocephalus,... |
OMIM:613153 |
Cerebrooculonasal Syndrome |
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Postaxial hand polydactyly, Anophthalmia |
ORPHA:66625 |
Glycogen Storage Disease Ib |
|
Hepatocellular carcinoma, Proteinuria, Enlarged kidney, Decreased glomerular filtration rate, Pan... |
OMIM:232220 |
Summitt Syndrome |
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Macrocephaly, Camptodactyly of finger, Finger syndactyly, Short 4th metacarpal, Clinodactyly of t... |
ORPHA:3210 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Hepatomegaly, Follicular hyperplasia, Pa... |
OMIM:614470 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Renal interstitial fibrosis, Proteinuria, Hepatic cysts, Stage 5 chron... |
OMIM:614377 |
Laurin-Sandrow Syndrome |
|
Patellar aplasia, Hand polydactyly, Absent radius, Absent tibia, Syndactyly, Triphalangeal thumb,... |
OMIM:135750 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hydrocephalus, Holoprosencephaly, Microphthalmia, Agenesis of corpus callosum, Anophthalmia |
ORPHA:77298 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Metaphyseal chondrodysplasia, Hydrocephalus, Microphthalmia, Short palm, Cerebellar hypoplasia, A... |
ORPHA:163966 |
Immunodeficiency 69 |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Pancytopenia, Thrombocytosis, Splenomegaly |
OMIM:618963 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal cortical gyration, Oligodactyly, Abnormality of the humerus, Absent hand, Short thumb, P... |
ORPHA:2538 |
Adams-Oliver Syndrome 2 |
|
Macrocephaly, Polymicrogyria, Cerebral atrophy, Hydrocephalus, Microphthalmia, Short middle phala... |
OMIM:614219 |
Gordon Syndrome |
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Camptodactyly of finger, Finger syndactyly, Clinodactyly of the 5th finger |
ORPHA:376 |
Martinez-Frias Syndrome |
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Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal... |
OMIM:601346 |
Pierpont Syndrome |
|
Short finger, Deep palmar crease, Microphthalmia, Short toe, Broad palm, Short palm, Microcephaly... |
OMIM:602342 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Jaundice, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hepatic bri... |
OMIM:619662 |
Nail-Patella Syndrome |
|
Limited elbow extension, Patellar aplasia, Hypoplastic radial head, Spina bifida, Iliac horns, Di... |
OMIM:161200 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
Alpha-Heavy Chain Disease |
|
Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Ascites |
ORPHA:100025 |
Nephronophthisis 15 |
|
Cerebellar vermis hypoplasia, Polydactyly |
OMIM:614845 |
Chromosome 17P13.1 Deletion Syndrome |
|
Hallux valgus, Hip dysplasia, Proximal placement of thumb, Hydrocephalus, Spina bifida, Umbilical... |
OMIM:613776 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Patellar aplasia, Abnormality of fibula morphology, Ectrodactyly, Finger syndactyly, Short femur,... |
ORPHA:3329 |
Primary Sclerosing Cholangitis |
|
Cholestasis, Hepatomegaly, Histiocytosis, Abnormal biliary tract morphology, Cholelithiasis, Hepa... |
ORPHA:171 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Cholestasis, Biliary atresia, Ascites, Absent gallbladder, Annular pancrea... |
OMIM:615710 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lens coloboma, Small thenar eminence, Pulmonic stenosis, Joint contracture of the 5th finger, Umb... |
OMIM:618914 |
Meckel Syndrome, Type 10 |
|
Postaxial foot polydactyly, Camptodactyly, Postaxial polydactyly, Ulnar deviation of the hand, Oc... |
OMIM:614175 |
Cimdag Syndrome |
|
Cholelithiasis, Hepatomegaly, Microvesicular hepatic steatosis, Retinal dystrophy |
OMIM:619273 |
Joubert Syndrome 18 |
|
Camptodactyly, Agenesis of cerebellar vermis, Postaxial polydactyly, Trident pelvis, Occipital en... |
OMIM:614815 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hepatomegaly, Hypersplenism, Thrombocytopenia, Splenomegaly |
OMIM:610539 |
Camptobrachydactyly |
|
Camptodactyly of finger, Ulnar deviation of finger, Finger syndactyly, Aplasia/Hypoplasia of the ... |
ORPHA:1319 |
Immunodeficiency 84 |
|
B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Spherocytosis, Type 5 |
|
Jaundice, Reticulocytosis, Hemolytic anemia, Abnormal platelet count, Abnormal leukocyte count, S... |
OMIM:612690 |
Autosomal Recessive Polycystic Kidney Disease |
|
Polycystic kidney dysplasia, Enlarged kidney, Cholestasis, Recurrent urinary tract infections, He... |
ORPHA:731 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Foot oligodactyly, Short tibia, Syndactyly, Abnormality of the hand, Fibular aplasia, Hand oligod... |
OMIM:246570 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Asplenia, Chronic active hepatitis, Hypoparathyroidism, Pigmentary retinopathy, Cholelithiasis, P... |
OMIM:240300 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Polycystic kidney dysplasia, Hydronephrosis, Enlarged kidney, Elevated circulating aspartate amin... |
OMIM:608836 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatocellular carcinoma, Nephrocalcinosis, Enlarged kidney, Renal Fanconi... |
OMIM:276700 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia, Cone/cone-rod dystrophy |
OMIM:614979 |
Grange Syndrome |
|
Hypertension, Syndactyly, Short palm, Aortic regurgitation |
ORPHA:79094 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatocellular carcinoma, Hepatomegaly, Elevated hepatic transaminase, Portal hypertension, Throm... |
OMIM:619463 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Polymicrogyria, Camptodactyly of finger, Hip dislocation, Bilateral microphthalmos, Flexion contr... |
OMIM:610758 |
Joubert Syndrome 10 |
|
Macrocephaly, Cerebellar vermis hypoplasia, Postaxial polydactyly |
OMIM:300804 |
Ketamine-Induced Biliary Dilatation |
|
Abnormal biliary tract morphology |
ORPHA:293807 |
Thrombocytopenia-Absent Radius Syndrome |
|
Hip dislocation, Short thumb, Carpal synostosis, Fibular aplasia, Broad thumb, Abnormal shoulder ... |
OMIM:274000 |
Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Macrocephaly, Polydactyly, Flattened epiphysis, Tapered finger, Clinodactyl... |
OMIM:607131 |
Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Hand polydactyly, Spina bifida, Telangiectasia of the skin, Umbilical he... |
ORPHA:2092 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Type II lissencephaly, Progressive microcephaly, Abnormally large globe, Hydrocephalus, Microphth... |
OMIM:615249 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal metaphysis morphology, Proximal placement of thumb, Abnormal epiphysis morphology, Micro... |
ORPHA:93267 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
Meckel Syndrome |
|
Encephalocele, Postaxial foot polydactyly, Hydrocephalus, Anophthalmia, Lobar holoprosencephaly, ... |
ORPHA:564 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatocellular carcinoma, Intermittent jaundice, Intrahepatic cholestasis, Hepatomegaly, Cirrhosi... |
OMIM:601847 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Duplication of phalanx of hand, Hip dislocation, Broad phalanx, Spina bifida, Overlapping toe, Ab... |
ORPHA:508498 |
Sclerosteosis |
|
2-3 finger syndactyly, Diaphyseal thickening, Finger syndactyly, Curved distal phalanges of the hand |
ORPHA:3152 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content |
OMIM:261750 |
Vacterl With Hydrocephalus |
|
Hip dislocation, Hydrocephalus, Spina bifida, Hypoplasia of the radius, Aqueductal stenosis, Micr... |
ORPHA:3412 |
Monosomy 5P |
|
Finger syndactyly, Microcephaly, Small hand |
ORPHA:281 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Macrocephaly, Postaxial polydactyly, Hydrocephalus, Dandy-Walker malformation, Opt... |
OMIM:605627 |
Caudal Duplication |
|
Myelomeningocele, Spinal cord lesion, Spina bifida |
ORPHA:1756 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Craniosynostosis, Proteinuria, Enlarged kidney, Macroscopic hematuria, Membranoproliferative glom... |
ORPHA:251004 |
Adams-Oliver Syndrome |
|
Encephalocele, Short distal phalanx of finger, Absent hand, Pulmonary arterial hypertension, Hydr... |
ORPHA:974 |
Brachydactyly, Type B1 |
|
Camptodactyly, Aplasia/Hypoplasia of the distal phalanges of the hand, Type B brachydactyly, Synd... |
OMIM:113000 |
Basal Cell Nevus Syndrome 1 |
|
Macrocephaly, Down-sloping shoulders, Palmar pits, Polydactyly, Hydrocephalus, Spina bifida, Shor... |
OMIM:109400 |
Joubert Syndrome 14 |
|
Encephalocele, Agenesis of cerebellar vermis, Postaxial polydactyly, Hydrocephalus, Meningocele, ... |
OMIM:614424 |
Mosaic Trisomy 9 |
|
Biparietal narrowing, Camptodactyly of finger, Hip dislocation, Spina bifida, Deep palmar crease,... |
ORPHA:99776 |
Bardet-Biedl Syndrome 9 |
|
Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Syndactyly, Postaxial hand polyda... |
OMIM:615986 |
Aicardi-Goutieres Syndrome 6 |
|
Thrombocytopenia, Hepatomegaly, Splenomegaly, Hemolytic anemia |
OMIM:615010 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Absent tibia, Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication |
OMIM:188740 |
Acrocephalopolydactylous Dysplasia |
|
Craniosynostosis, Enlarged kidney, Hepatic fibrosis, Hepatomegaly, Polysplenia, Pancreatic fibros... |
OMIM:200995 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Anemia, Optic disc pallor, Hepatomegaly, Thrombocytopenia, Optic atrophy, Spleno... |
OMIM:611490 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Hypoplastic ischia, Microcephaly, Polydactyly |
OMIM:616910 |
Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Short toe, Syndactyly |
OMIM:612581 |
Follicular Lymphoma |
|
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly |
ORPHA:545 |
Diabetic Embryopathy |
|
Spinal dysraphism, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Aplasi... |
ORPHA:1926 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Bilateral single transverse palmar creases, Finger syndactyly, Short 4th met... |
ORPHA:264200 |
Camptobrachydactyly |
|
Hand polydactyly, Syndactyly, Short toe, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
Bartsocas-Papas Syndrome 2 |
|
Absent distal phalanges, 2-5 finger cutaneous syndactyly, Small hand, Microphthalmia |
OMIM:619339 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated hepatic transaminase, Hepatic failure,... |
OMIM:235555 |
Isolated Klippel-Feil Syndrome |
|
Abnormal shoulder morphology, Spina bifida |
ORPHA:2345 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Jaundice, Cholestasis, Hepatomegaly, Portal hypertension, Splenomegaly |
ORPHA:59303 |
Joubert Syndrome 33 |
|
Splenomegaly, Cone/cone-rod dystrophy |
OMIM:617767 |
Coproporphyria, Hereditary |
|
Jaundice, Hepatomegaly, Splenomegaly |
OMIM:121300 |
Orofaciodigital Syndrome Iv |
|
Short finger, Hand polydactyly, Cerebral atrophy, Postaxial polydactyly, Short tibia, Porencephal... |
OMIM:258860 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Giant... |
OMIM:607765 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Jaundice, Anisopoikilocytosis, Reticulocytosis, Hemolytic anemia, Increased mean corpuscular hemo... |
OMIM:616689 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microlissencephaly, Simplified gyral pattern, Microphthalmia, Optic nerve hypoplasia, Small cereb... |
OMIM:617914 |
Cerebrocostomandibular Syndrome |
|
Hydranencephaly, Spina bifida, Myelomeningocele, Meningocele, Cerebral calcification, Porencephal... |
ORPHA:1393 |
Congenital Toxoplasmosis |
|
Cerebral calcification, Microcephaly, Microphthalmia, Hydrocephalus |
ORPHA:858 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Jaundice, Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Por... |
OMIM:607626 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Camptodactyly, Mitral regurgitation, Osteolysis involving bones of the lower limbs, Syndactyly, O... |
ORPHA:88630 |
Fish-Eye Disease |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:79292 |
Trisomy 18 |
|
Deviation of finger, Camptodactyly of finger, Narrow pelvis bone, Spina bifida, Abnormal hip bone... |
ORPHA:3380 |
Meckel Syndrome, Type 6 |
|
Bile duct proliferation, Hepatic fibrosis, Absent gallbladder, Cystic liver disease, Hepatic cysts |
OMIM:612284 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Hepatomegaly, Splenomegaly |
ORPHA:2204 |
Tibial Hemimelia |
|
Oligodactyly, Hip dislocation, Hip dysplasia, Polydactyly, Short tibia, Cutaneous finger syndacty... |
ORPHA:93322 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Papilledema, Cholelithiasis, Thrombocytopenia, Normochromic anemia |
OMIM:618775 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Macrocephaly, Polymicrogyria, Hand polydactyly, Hydrocephalus, Arrhythmia, Finger syndactyly, Toe... |
ORPHA:60040 |
Ppoma |
|
Elevated circulating growth hormone concentration, Intermittent jaundice, Intrahepatic cholestasi... |
ORPHA:97278 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis, Recurrent tonsillitis |
ORPHA:171876 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Microphthalmia, Symphalangism affecting the phalanges of the hand |
ORPHA:2547 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Camptodactyly of finger, Rocker bottom foot, Microcephaly, Microphthalmia |
OMIM:610756 |
Bresek Syndrome |
|
Hydrocephalus, Microphthalmia, Optic nerve hypoplasia, Postaxial hand polydactyly, Microcephaly |
ORPHA:85284 |
Immunodeficiency 76 |
|
Lymphopenia, B lymphocytopenia, Lymphadenopathy, Splenomegaly, T lymphocytopenia |
OMIM:619164 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Camptodactyly of finger, Ulnar deviation of finger, Mitral regurgitation, Umbilical hernia, Tricu... |
ORPHA:1101 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Syndactyly, Polydactyly |
OMIM:300484 |
Hepatoportal Sclerosis |
|
Hepatocellular carcinoma, Abnormality of the hepatic vasculature, Jaundice, Leukopenia, Abnormal ... |
ORPHA:64743 |
Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
Microphthalmia, Syndromic 11 |
|
Agenesis of corpus callosum, Microphthalmia, Agenesis of pineal gland |
OMIM:614402 |
Immunodeficiency 52 |
|
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Lymphadeno... |
OMIM:617514 |