RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Multiple renal cysts |
DECIPHER:47 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Syncope, Bradycardia, Abnormal QRS complex, Hearing impairment |
OMIM:614896 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Bile duct p... |
OMIM:607361 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... |
OMIM:619902 |
Nephronophthisis 7 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy |
OMIM:611498 |
Holzgreve Syndrome |
|
Renal agenesis, Cleft upper lip, Renal hypoplasia, Cleft palate, Hand polydactyly |
OMIM:236110 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Senior-Loken Syndrome 5 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:609254 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Nephronophthisis 12 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
Gombo Syndrome |
|
Microphthalmia, Clinodactyly, Radial deviation of finger, Brachydactyly |
OMIM:233270 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Hyperactivity, Bradycardia, Attention deficit hyperactivity disorder |
OMIM:617182 |
Meckel Syndrome, Type 5 |
|
Bile duct proliferation, Renal cyst |
OMIM:611561 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst |
OMIM:615987 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic... |
OMIM:615382 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hypertelorism, Cleft upper lip, Cleft palate |
ORPHA:3316 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Renal agenesis, Cleft palate, Upper limb phocomelia, Stillbirth, Polydactyly, Abnorma... |
ORPHA:294975 |
Disorganization, Mouse, Homolog Of |
|
Cleft upper lip, Hip dislocation, Cleft palate, Hand polydactyly, Limb duplication |
OMIM:223200 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... |
OMIM:602088 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ... |
ORPHA:3032 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypert... |
OMIM:208540 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... |
OMIM:600803 |
Multiple Synostoses Syndrome 3 |
|
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala... |
OMIM:612961 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia, Multinodular goiter |
ORPHA:2091 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617874 |
Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ... |
DECIPHER:46 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, B... |
OMIM:267010 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... |
OMIM:614377 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Familial Median Cleft Of The Upper And Lower Lips |
|
Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Cleft lower lip, Fusion of gums |
ORPHA:401942 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Renal cyst, Horseshoe kidney, Cystic liver disease, Aplasia of the bladder, B... |
OMIM:612284 |
Senior-Loken Syndrome 7 |
|
Nephronophthisis |
OMIM:613615 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Cleft upper lip, Hypoplasia of the radius, Hand oligod... |
OMIM:602418 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
EEG abnormality, Hyperactivity, Low-set ears |
ORPHA:436151 |
Charlie M Syndrome |
|
Finger syndactyly, Hypertelorism, Narrow mouth, Non-midline cleft lip, Split hand, Tooth agenesis... |
ORPHA:1406 |
Meckel Syndrome, Type 2 |
|
Bile duct proliferation, Renal cyst |
OMIM:603194 |
Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca... |
OMIM:311895 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Continuous spike and waves during slow sleep, Hyperactivity, Impulsivity, Attention deficit hyper... |
OMIM:301008 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
Nephronophthisis 18 |
|
Stage 5 chronic kidney disease, Cholestasis, Thickened glomerular basement membrane, Tubulointers... |
OMIM:615862 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Cleft palate |
ORPHA:1074 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... |
OMIM:602347 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Joubert Syndrome 6 |
|
Bile duct proliferation, Hepatic fibrosis, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:610688 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Polycystic liver disease, Renal cyst |
OMIM:174050 |
X-Linked Intellectual Disability, Siderius Type |
|
Preaxial hand polydactyly, Large hands, Orofacial cleft, Cleft upper lip |
ORPHA:85287 |
Meckel Syndrome, Type 4 |
|
Bile duct proliferation, Renal cyst |
OMIM:611134 |
Bardet-Biedl Syndrome 7 |
|
Postaxial polydactyly, Hypertelorism, 2-3 toe syndactyly, Deeply set eye, Polydactyly, Narrow mou... |
OMIM:615984 |
Juberg-Hayward Syndrome |
|
Aplasia/Hypoplasia of the thumb, Cleft upper lip, Abnormal toe morphology, Hypertelorism, Abnorma... |
OMIM:216100 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Recurrent urinary tract infections, Cleft upper lip, Hype... |
OMIM:244600 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Aminoacylase 1 Deficiency |
|
Hyperactivity, Bradycardia, Sensorineural hearing impairment |
OMIM:609924 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Hepatomegaly, Decreased liver function, Renal cyst |
OMIM:614870 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Interstitial Nephritis, Karyomegalic |
|
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, H... |
OMIM:614817 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Abnormality of the kidney, Abnormality of the dentition, Renal cyst, Polydactyly, Bra... |
OMIM:615982 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia |
OMIM:615993 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Median cleft lip, Hypertelorism, Cleft palate, Polydactyly, High palate, Short tibia |
OMIM:300484 |
Coach Syndrome 3 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Portal fibrosis, Renal interstitial inflamma... |
OMIM:619113 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Edema, Talipes equinovarus, Microphthalmia, Intrauterine growth retardation |
OMIM:616570 |
Intellectual Disability, Wolff Type |
|
Hypospadias, Camptodactyly of finger, Hypertelorism, Non-midline cleft lip, Thick lower lip vermi... |
ORPHA:3080 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
Syngnathia |
|
Cleft palate |
OMIM:119550 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Hand oligodactyly, Cleft palate |
OMIM:172880 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Accessory oral frenulum, Dias... |
OMIM:617927 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi... |
OMIM:231680 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Rhyns Syndrome |
|
Hypopituitarism, Abnormality of the liver, Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... |
ORPHA:100973 |
Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Bifid uvula, Cleft soft palate, Accessory oral frenulum, Hypertelorism, Supe... |
ORPHA:2919 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Impulsivity, Hypsarrhythmia, Attention deficit hyperactivity disorder |
OMIM:617113 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation, Hypsarrhythmia |
OMIM:619970 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Abnormal autonomic nervous system physiology, T... |
ORPHA:101016 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Polycystic liver disease, Multiple renal cysts, Abnormality of the pancreas |
ORPHA:2924 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Polydactyly, Talipes ... |
OMIM:613885 |
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome |
|
Non-midline cleft lip, Hypertelorism |
ORPHA:2007 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Postaxial polydactyly |
OMIM:613094 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
Microphthalmia With Limb Anomalies |
|
Frontal bossing, Toe syndactyly, Sandal gap, Single transverse palmar crease, Anophthalmia, Capit... |
OMIM:206920 |
Phenobarbital Embryopathy |
|
Hypospadias, Hypertelorism, Aplasia/Hypoplasia of fingers, Unilateral cleft lip, Brachydactyly |
ORPHA:1919 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly... |
ORPHA:30391 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Indomethacin Embryofetopathy |
|
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology |
ORPHA:1909 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Enlarged kidney |
OMIM:615285 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Ocular Motor Apraxia |
|
Nephronophthisis |
OMIM:257550 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Myopathy, Myofibrillar, 1 |
|
Facial palsy, Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restricti... |
OMIM:601419 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Decreased liver function, Hepatic cysts |
OMIM:600666 |
Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Nephropathy, Proximal tubulopathy, Multiple renal cysts |
ORPHA:3033 |
Nephronophthisis 15 |
|
Elevated hepatic transaminase, Nephronophthisis |
OMIM:614845 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Abnormal repetitive mannerisms |
OMIM:239500 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
Mmep Syndrome |
|
Split foot, Orofacial cleft, Median cleft lip, Triphalangeal thumb |
ORPHA:3434 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Nephronophthisis 1 |
|
Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hyposthenuria... |
OMIM:256100 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... |
OMIM:613027 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly, Abnormality of the kidney |
OMIM:615988 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Polycystic liver disease, Pancreatic fibrosis, Proteinuria, Pancreatic cysts... |
OMIM:208500 |
Acrorenal Syndrome |
|
Renal insufficiency, Abnormal morphology of ulna, Renal hypoplasia/aplasia, Abnormal tibia morpho... |
ORPHA:971 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect |
OMIM:600776 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro... |
ORPHA:85445 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... |
OMIM:611555 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Pancreatic adenocarcinoma, Nephrolithiasis, Papillary renal cell carcinoma, ... |
OMIM:145001 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
Say Syndrome |
|
Ulnar deviation of the 3rd finger, Tapered finger, Proximal renal tubular acidosis, Cleft palate,... |
OMIM:181180 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... |
OMIM:183600 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss... |
ORPHA:3104 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
Axial Osteomalacia |
|
Polycystic liver disease, Renal cyst |
OMIM:109130 |
Orofacial Cleft 14 |
|
Median cleft lip |
OMIM:615892 |
Bardet-Biedl Syndrome 14 |
|
Renal insufficiency, Polydactyly |
OMIM:615991 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Arthrogryposis, Distal, Type 1C |
|
Hip contracture, Pursed lips, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ... |
OMIM:619110 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... |
OMIM:614022 |
Sprengel Deformity |
|
Abnormal shoulder morphology, Shoulder muscle hypoplasia, Cleft palate, Abnormality of the should... |
ORPHA:3181 |
Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration, ... |
ORPHA:90301 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials, Ataxia, Anorexia |
ORPHA:99852 |
Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Joubert Syndrome 4 |
|
Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop... |
OMIM:609583 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... |
OMIM:616648 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormal morphology of the radius, Renal insufficiency, Median cleft lip, Hypertelorism, Radial c... |
ORPHA:2165 |
Facial Clefting, Oblique, 1 |
|
Deep palmar crease, Cleft palate, Cleft upper lip |
OMIM:600251 |
Fibular Hemimelia |
|
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th... |
ORPHA:93323 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Hypertrophic cardiomyopathy, Hearing impairment |
OMIM:620270 |
Senior-Loken Syndrome |
|
Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophth... |
ORPHA:3156 |
Mpdu1-Cdg |
|
Decreased response to growth hormone stimulation test, Renal cortical cysts |
ORPHA:79323 |
Orofaciodigital Syndrome Xvii |
|
Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow palate, Partial duplicatio... |
OMIM:617926 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Cleft upper lip, Hypertelorism, Hypotelorism, Downturned corners of mouth, Short philtrum, Slende... |
OMIM:613192 |
Carpenter Syndrome |
|
Syndactyly, Turricephaly, Cloverleaf skull, Finger syndactyly, Toe syndactyly, Craniosynostosis, ... |
ORPHA:65759 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Micropenis, Polydactyly, Brachydactyly |
OMIM:615983 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic... |
OMIM:613159 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Hyperteloris... |
OMIM:258860 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Difficulty walking... |
ORPHA:320401 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... |
OMIM:617222 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Abnormal calvaria morphology |
ORPHA:2432 |
Joubert Syndrome 18 |
|
Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Cleft palate, Renal cyst, Horses... |
OMIM:614815 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... |
OMIM:615415 |
Adams-Oliver Syndrome 4 |
|
Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Um... |
OMIM:615297 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short lingual frenulum, Micromelia, Renal cyst, Fused teeth, High palate, Microdontia, Syndactyly... |
OMIM:614091 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Cholestasis, Renal cyst, Hematuria, Renal tub... |
OMIM:610205 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Bowing of the legs, Mesomelic arm shortening, Cleft palate, Mesomelic le... |
OMIM:249710 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Cleft palate, Cleft upper lip |
OMIM:120433 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Decreased glom... |
ORPHA:730 |
Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
Nephronophthisis 11 |
|
Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Mohr Syndrome |
|
Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Syndactyly, Accessory ... |
OMIM:252100 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Thickening of the tubular basement membrane, Malformation of the h... |
ORPHA:84081 |
Congenital Disorder Of Glycosylation, Type If |
|
Renal cortical cysts |
OMIM:609180 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia, Dysphagia |
OMIM:616276 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hypoplasia of the ulna, H... |
OMIM:613091 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Sple... |
OMIM:216360 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Unilateral renal agenesis, Cleft upper lip, Cleft palate, Hypotelorism, Finger joint hypermobilit... |
OMIM:244200 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Hypertelorism, Ectopic kidney, 2-3 toe syndactyly, Cleft palate, Small thenar em... |
OMIM:239800 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Bradycardia, Dysphagia |
OMIM:620265 |
Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
Stxbp1-Related Encephalopathy |
|
Hyperactivity, Ataxia, EEG with abnormally slow frequencies, Inability to walk, Multifocal epilep... |
ORPHA:599373 |
Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... |
ORPHA:168796 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... |
OMIM:301068 |
Genitopalatocardiac Syndrome |
|
Renal cyst, Hypospadias, Cleft palate, Cleft upper lip |
OMIM:231060 |
Cleft Lip-Retinopathy Syndrome |
|
Non-midline cleft lip |
ORPHA:1995 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic liver disease, Polycystic kidney dysplasia, Polysplenia |
OMIM:211890 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Microphthalmia, Orbital encephalocele, Congenital hip dislocation |
OMIM:164180 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst |
OMIM:617056 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius, Cleft palate, Cleft upper lip |
OMIM:179400 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the philtrum, Cleft upper lip, Palmoplantar hyperkeratosis, Cleft palate, Cutaneou... |
OMIM:225060 |
Polysyndactyly With Cardiac Malformation |
|
Syndactyly, Hypertelorism, Preaxial hand polydactyly, Duplication of phalanx of hallux, Renal cys... |
OMIM:263630 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
EEG abnormality, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia |
OMIM:618815 |
Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary central incisors, Split foot |
OMIM:601349 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Pancreatic cysts, St... |
OMIM:616307 |
Hemifacial Microsomia With Radial Defects |
|
Short mandibular rami, Non-midline cleft lip, Orofacial cleft, Cleft palate, Triphalangeal thumb,... |
OMIM:141400 |
Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Hypertel... |
OMIM:258865 |
Congenital Varicella Syndrome |
|
Microphthalmia, Micromelia, Intrauterine growth retardation |
ORPHA:291 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cholestasis, Renal cyst, Bile duct pro... |
OMIM:261515 |
Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Ectopic kidney, Cystic renal dysplasia, Cryptorchidism |
OMIM:613730 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Elevated hepatic transaminase, Multiple renal cysts, Decreased liver function, Renal cyst |
OMIM:614883 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... |
OMIM:614916 |
Meckel Syndrome, Type 10 |
|
Ulnar deviation of the hand, Hypospadias, Postaxial polydactyly, Postaxial hand polydactyly, Clef... |
OMIM:614175 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Hearing impairment, Aggressive behavior |
OMIM:248510 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
Burn-Mckeown Syndrome |
|
Unilateral renal agenesis, Cleft upper lip, Hypertelorism, 2-3 toe syndactyly, Cleft palate, Rena... |
OMIM:608572 |
Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... |
OMIM:613980 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Macrotia, Optic atrophy |
OMIM:300928 |
Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Hypsarrhythmia, Sick sinus syndrome, Bradycardia, Prolonged PR interva... |
ORPHA:542306 |
Fanconi Anemia, Complementation Group O |
|
Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia of the radius, Rectal atresia,... |
OMIM:613390 |
Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Short femur, Renal hypoplasia/aplasia, Long penis, Abnormal fibula morp... |
ORPHA:1988 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Aggressive behavior, EEG abnormality, Falls, EEG with focal sharp slow waves |
ORPHA:2382 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the dentition, Carious teeth, Radioulnar synostosis,... |
ORPHA:3270 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Polycystic kidney dysplasia, Hepatic cysts |
OMIM:173900 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Vesicoureteral reflux, Renal ... |
OMIM:130650 |
Cln3 Disease |
|
Ataxia, Aggressive behavior, Optic atrophy, T-wave inversion, Bradycardia, Shuffling gait, Dyspha... |
ORPHA:228346 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Split hand, Toe syndactyly, Cleft palate, Split foot |
OMIM:183700 |
Trisomy 13 |
|
Anophthalmia, Postaxial hand polydactyly, Hydrops fetalis, Aplasia/Hypoplasia of the iris, Abnorm... |
ORPHA:3378 |
Anencephaly 2 |
|
Anophthalmia, Anencephaly |
OMIM:619452 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Orofaciodigital Syndrome Vi |
|
Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper lip, Hamartoma... |
OMIM:277170 |
Hartnup Disorder |
|
Episodic ataxia, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Jawad Syndrome |
|
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... |
OMIM:251255 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Non-midline cleft lip, Abnormal femur morphology, Cleft pal... |
ORPHA:3429 |
Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
Atrial Fibrillation, Familial, 15 |
|
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death |
OMIM:615770 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Single transverse palmar crease, Camptodactyly of f... |
ORPHA:915 |
Joubert Syndrome 5 |
|
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr... |
OMIM:610188 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Syndactyly, Clinodactyly, Brachydactyly |
OMIM:610023 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, 3-Methylglutaconic aciduria, Bile duct proliferation, Macrovesicul... |
OMIM:618329 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... |
ORPHA:60041 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3375 |
Frontonasal Dysplasia 1 |
|
Median cleft lip, Hypertelorism, Postaxial hand polydactyly, Pectoral muscle hypoplasia/aplasia, ... |
OMIM:136760 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Acrofrontofacionasal Dysostosis |
|
Hypospadias, Camptodactyly of finger, Micromelia, Hypertelorism, Non-midline cleft lip, Cleft pal... |
ORPHA:1784 |
2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Hypertelorism, Long fingers, Bullet-shaped distal phalan... |
ORPHA:1617 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
Pallister-Hall-Like Syndrome |
|
Toe syndactyly, Median cleft lip, Micromelia, Postaxial hand polydactyly, Hip dislocation, Cleft ... |
OMIM:241800 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Syncope, Ventricular tachycardia, Sudden cardiac death |
ORPHA:3286 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Short 2nd finger, Sandal gap, Broad hallux, Tented upper lip vermilion,... |
OMIM:600987 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... |
OMIM:603278 |
Distal Deletion 10P |
|
Hypoplasia of penis, Hypertelorism, Non-midline cleft lip, Abnormality of the elbow, Cleft palate... |
ORPHA:1580 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Metacarpal synostosis, Brachydactyly, Brachycephaly, Midface retrusion |
ORPHA:35099 |
Atrial Fibrillation, Familial, 4 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,... |
OMIM:611493 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Sandal gap, Aganglionic megacolon, Postaxial polydact... |
OMIM:174300 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia, Hearing impairment |
OMIM:616277 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal insufficiency, Renal cyst |
OMIM:611773 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Brachydactyly, Abnormal thumb morphology, Abnormal metacarpal morphology, Abnormal finger morphol... |
ORPHA:2511 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors |
OMIM:301107 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia, Brachycephaly |
ORPHA:2528 |
Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... |
OMIM:612124 |
Blepharocheilodontic Syndrome 1 |
|
Cleft upper lip, Conical tooth, Hypertelorism, Cutaneous syndactyly, Hypodontia, Clinodactyly, An... |
OMIM:119580 |
Cleft Palate-Lateral Synechia Syndrome |
|
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth |
ORPHA:2016 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... |
OMIM:617519 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Th... |
ORPHA:2631 |
Senior-Loken Syndrome 9 |
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Stage 5 chronic kidney disease, Cholestasis, Tubulointerstitial nephritis, Hepatic fibrosis, Neph... |
OMIM:616629 |
Hartsfield Syndrome |
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Hypertelorism, Non-midline cleft lip, Split hand, Cleft palate, Aplasia/Hypoplasia of the radius |
ORPHA:2117 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
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Hepatomegaly, Polycystic kidney dysplasia |
OMIM:614859 |
Renal Coloboma Syndrome |
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Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
C Syndrome |
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Hepatomegaly, Renal cortical cysts, Cryptorchidism |
OMIM:211750 |
Mosaic Trisomy 1 |
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Hepatic agenesis, Renal cortical cysts, Renal cyst, Micropenis, Penile hypospadias |
ORPHA:1692 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
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Hyperactivity, Broad-based gait, Aggressive behavior, Optic atrophy, Abnormal repetitive mannerisms |
OMIM:619470 |
Otopalatodigital Syndrome Type 1 |
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Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Abnormality of t... |
ORPHA:90650 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
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Frontal bossing, Camptodactyly of finger, Polyhydramnios, Symphalangism affecting the phalanges o... |
ORPHA:2547 |
Odontochondrodysplasia 1 |
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Delayed eruption of teeth, Short metacarpal, Brachydactyly, Micromelia, Metaphyseal widening, Fla... |
OMIM:184260 |
Orofaciodigital Syndrome Xi |
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Cleft palate, Postaxial polydactyly |
OMIM:612913 |
Teebi Hypertelorism Syndrome 2 |
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Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Hypospadias, Hypertelorism, Clef... |
OMIM:619736 |
Hydrolethalus |
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Anophthalmia, Polyhydramnios, Micromelia, Postaxial hand polydactyly, Anencephaly, Microphthalmia |
ORPHA:2189 |
Microphthalmia, Isolated 8 |
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Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
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Increased urine alpha-ketoglutarate concentration, Thin upper lip vermilion, Renal agenesis, Hype... |
OMIM:220500 |
Birt-Hogg-Dube Syndrome 1 |
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Renal neoplasm, Renal cell carcinoma, Renal cyst |
OMIM:135150 |
Trisomy 8Q |
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Hypoplasia of penis, Camptodactyly of finger, Hypertelorism, Non-midline cleft lip, Orofacial cle... |
ORPHA:1752 |
Nephrotic Syndrome, Type 11 |
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Diffuse mesangial sclerosis, Arachnodactyly, Proteinuria, Minimal change glomerulonephritis, Clef... |
OMIM:616730 |
Hirschsprung Disease-Deafness-Polydactyly Syndrome |
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Renal agenesis, Aganglionic megacolon, Hypertelorism, Postaxial hand polydactyly, Foot polydactyly |
ORPHA:2155 |
Cerebrooculonasal Syndrome |
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Postaxial hand polydactyly, Anophthalmia, Brachycephaly |
ORPHA:66625 |
Acrocallosal Syndrome |
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Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Micrope... |
OMIM:200990 |
Trisomy 1Q |
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Frontal bossing, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Anophthalmia, Polyhydra... |
ORPHA:261344 |
Hyperbiliverdinemia |
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Cholelithiasis, Decreased liver function, Cholestasis, Green urine |
OMIM:614156 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
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Median cleft lip, High palate, Bifid uvula, Hypertelorism |
OMIM:155145 |
Autosomal Recessive Polycystic Kidney Disease |
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Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
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Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... |
OMIM:125250 |
Palatopharyngeal Incompetence |
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Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
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Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Ketamine-Induced Biliary Dilatation |
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Abnormal biliary tract morphology, Dysuria |
ORPHA:293807 |
Nanophthalmos |
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Microphthalmia |
ORPHA:35612 |
Jervell And Lange-Nielsen Syndrome 2 |
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Prolonged QT interval, Sudden cardiac death, Congenital sensorineural hearing impairment, Prematu... |
OMIM:612347 |
Craniotelencephalic Dysplasia |
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Frontal bossing, Septo-optic dysplasia, Craniosynostosis, Frontal encephalocele, Microphthalmia |
ORPHA:1528 |
Zechi-Ceide Syndrome |
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Sandal gap, Cleft upper lip, Short metatarsal, Cleft palate, Oligodontia, Short distal phalanx of... |
OMIM:612916 |
Autosomal Recessive Amelia |
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Hypoplasia of penis, Non-midline cleft lip, Orofacial cleft, Amelia involving the upper limbs, Ac... |
ORPHA:1027 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
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Frontal bossing, Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of me... |
OMIM:300863 |
Heart-Hand Syndrome Type 2 |
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Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the dent... |
ORPHA:1350 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
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Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
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Frontal bossing, Bowing of the long bones, Cloverleaf skull, Rhizomelia, Proximal placement of th... |
ORPHA:93267 |
Atrial Standstill 2 |
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Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... |
OMIM:615745 |
X-Linked Intellectual Disability, Abidi Type |
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Non-midline cleft lip, Cleft palate |
ORPHA:85273 |
Terminal Osseous Dysplasia |
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Syndactyly, Camptodactyly of finger, Accessory oral frenulum, Hypertelorism, Abnormal hand bone o... |
OMIM:300244 |
Temtamy Preaxial Brachydactyly Syndrome |
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Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Hypertelorism, Diastema, Deep ... |
OMIM:605282 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
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Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Elevated circulating aspartate aminot... |
OMIM:614866 |
Bardet-Biedl Syndrome 13 |
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Polydactyly |
OMIM:615990 |
Omodysplasia 2 |
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Short humerus, Tented upper lip vermilion, Hypospadias, Bilateral cleft lip, Hypertelorism, Fibul... |
OMIM:164745 |
Microphthalmia With Brain And Digit Anomalies |
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Finger syndactyly, Anophthalmia, Proximal placement of thumb, Postaxial foot polydactyly, Microph... |
ORPHA:139471 |
Cranioectodermal Dysplasia 2 |
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Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cholangitis, Splenomegaly, Bili... |
OMIM:613610 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Dark urine, Jaundice, Cholesta... |
ORPHA:79303 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
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Cardiomyopathy, Progressive hearing impairment, Gait disturbance, Bradycardia, Dysphagia, Arrhythmia |
OMIM:609286 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
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Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Micromelia, Postaxial p... |
OMIM:617866 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type |
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Long toe, Arachnodactyly, Cleft lip, Cleft palate, Large hands |
OMIM:300263 |
Diaphanospondylodysostosis |
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Multiple renal cysts |
ORPHA:66637 |
Oculoauriculovertebral Spectrum With Radial Defects |
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Aplasia/Hypoplasia of the thumb, Distal urethral duplication, Renal hypoplasia/aplasia, Preaxial ... |
ORPHA:2549 |
Bardet-Biedl Syndrome 6 |
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Hypospadias, Renal cyst |
OMIM:605231 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
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Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
Joubert Syndrome 22 |
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Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Microphthalmia, Intra... |
OMIM:615665 |
Wild Type Attr Amyloidosis |
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Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Abnormal ... |
ORPHA:330001 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
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Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest |
OMIM:618235 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
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Hyperactivity, Inability to walk, Self-injurious behavior, EEG abnormality, Low-set ears, Bruxism... |
OMIM:618718 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
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Renal hypoplasia/aplasia, Cleft palate, Tooth agenesis, Multiple renal cysts, Abnormal hip bone m... |
ORPHA:1166 |
Paternal Uniparental Disomy Of Chromosome 5 |
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Polyhydramnios, Abnormally large globe, Posterior plagiocephaly, Rhizomelic arm shortening, Abnor... |
ORPHA:96190 |
Ventricular Tachycardia, Familial |
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Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Cleft Palate, Isolated |
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Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate |
OMIM:119540 |
Temtamy Syndrome |
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Brachydactyly, Short toe, Dolichocephaly, Clinodactyly of the 5th finger, Microphthalmia, Genu varum |
ORPHA:1777 |
Landau-Kleffner Syndrome |
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Interictal EEG abnormality, Hyperactivity, EEG with frontal focal spikes, Impulsivity, Aggressive... |
ORPHA:98818 |
Fanconi Anemia, Complementation Group J |
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Microphthalmia, Short thumb, Intrauterine growth retardation |
OMIM:609054 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, High, narrow palate, Cleft palate,... |
ORPHA:957 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
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Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia of the distal phalange... |
ORPHA:94066 |
Tako-Tsubo Cardiomyopathy |
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Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... |
ORPHA:66529 |
Curry-Jones Syndrome |
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Finger syndactyly, Toe syndactyly, Craniosynostosis, Abnormality of thumb phalanx, Preaxial hand ... |
ORPHA:1553 |
Endocrine-Cerebroosteodysplasia |
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Single transverse palmar crease, Micromelia, Preaxial polydactyly, Tibial bowing, Hypotelorism, D... |
OMIM:612651 |
Braddock-Carey Syndrome 1 |
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U-Shaped upper lip vermilion, Multicystic kidney dysplasia, Pierre-Robin sequence, Small hand, Cl... |
OMIM:619980 |
Nanophthalmos 4 |
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Microphthalmia |
OMIM:615972 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
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Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Jaundice, Stage 5 chronic ... |
OMIM:613095 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
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Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Cryptorchidism, Aminoaciduria, Albumi... |
OMIM:214100 |
Intellectual Developmental Disorder, X-Linked 104 |
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Hyperactivity, Abnormal pinna morphology, Ataxia, Aggressive behavior, Optic atrophy |
OMIM:300983 |
Chromosome 1Q41-Q42 Deletion Syndrome |
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Thin upper lip vermilion, Tented upper lip vermilion, Sandal gap, Cleft upper lip, Hypertelorism,... |
OMIM:612530 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
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Microphthalmia |
ORPHA:1574 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
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Occipital encephalocele, Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Brachycephaly... |
OMIM:614416 |
Microphthalmia, Isolated 2 |
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Microphthalmia |
OMIM:610093 |
20P13 Microdeletion Syndrome |
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Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Hypertelorism, Deeply se... |
ORPHA:313781 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia, Abnormal morphology of the radius, Polyhydramnios |
ORPHA:3469 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Gait ataxia, Low-set ears, Macrotia... |
OMIM:609425 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Tetanus |
|
Tachycardia, Hypertension, Abnormal autonomic nervous system physiology, Bradycardia, Dysphagia, ... |
ORPHA:3299 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Elevated hepatic transaminase, Renal insufficiency, Hypospadias, Supernumerary nipple, Renal cort... |
ORPHA:397715 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Hypertelorism, Postaxial hand polydactyly, Non-midline... |
ORPHA:2075 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Abnormality of the philtrum, Bilateral single transverse palmar creases, Renal hypoplasia/aplasia... |
ORPHA:1770 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... |
OMIM:600740 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior |
OMIM:605899 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
Anophthalmia Plus Syndrome |
|
Deviation of finger, Anophthalmia, Spina bifida |
ORPHA:1104 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia, Craniosynostosis |
OMIM:218670 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
Microphthalmia With Limb Anomalies |
|
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, High palate, Clinodactyly of ... |
ORPHA:1106 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Cleft soft palate,... |
ORPHA:2756 |
Biemond Syndrome Type 2 |
|
Microphthalmia, Preaxial polydactyly |
ORPHA:141333 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Hypertelor... |
ORPHA:2378 |
Jeune Syndrome |
|
Nephropathy, Abnormality of the liver, Renal insufficiency, Nephronophthisis |
ORPHA:474 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Single transverse palmar crease, 2-3 toe syndactyly, Renal cyst, Cutaneous syndactyly, Renal hypo... |
OMIM:236500 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Rh... |
OMIM:616300 |
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Hand polydactyly, Aganglionic megacolon, Unilateral renal agenesis, Hypertelorism |
OMIM:235740 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Crossed fused renal ectopia, Overlapping toe, Postaxial polydactyly, Hypertelorism, Unilateral re... |
OMIM:618142 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Hyperlysinemia, Type I |
|
Hyperactivity |
OMIM:238700 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Aciduria, Microvesicular hepa... |
OMIM:203700 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Hypospadias, Postaxial polydactyly, Abnormal tongue physiology, Wide mouth, Deeply set eye, Thin ... |
ORPHA:544254 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Hypospadias, Splenomegaly, Abnormality of the pancreas, Jaundice, Cholestasis, Gala... |
OMIM:222470 |
Culler-Jones Syndrome |
|
Postaxial polydactyly, Cleft upper lip, Cleft palate, Hypotelorism, Micropenis |
OMIM:615849 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Atrioventricular block, Prominent antihelix, Bradycardia, Truncal ataxia, Macrotia |
OMIM:614407 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Capitate-hamate fusion, Short toe, Limited elbow extension, Cleft palate, Genu ... |
OMIM:614078 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Polyuria, Postaxial h... |
OMIM:615994 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Se... |
OMIM:619827 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Parietal Foramina 1 |
|
Cleft palate, Cleft upper lip |
OMIM:168500 |
Galloway-Mowat Syndrome 7 |
|
Hallux valgus, Diffuse mesangial sclerosis, Arachnodactyly, Single transverse palmar crease, Prot... |
OMIM:618348 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Cleft palate, Aplasia/Hypoplasia of the radius, Ectopic anus, Non-midline cleft lip |
ORPHA:2476 |
Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypospadias, Camptodactyly... |
ORPHA:2008 |
Ventriculomegaly With Cystic Kidney Disease |
|
Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid... |
OMIM:219730 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... |
ORPHA:2633 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Anophthalmia, Tricuspid regurgitation, Camptodactyly of finger, Ulnar deviation of finger, Plagio... |
ORPHA:1101 |
Pierpont Syndrome |
|
Short toe, Brachycephaly, Broad palm, Short foot, Deep palmar crease, Short finger, Short palm, P... |
OMIM:602342 |
Suleiman-El-Hattab Syndrome |
|
Thin upper lip vermilion, Single transverse palmar crease, Hypertelorism, Thick lower lip vermili... |
OMIM:618950 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Hepatomegaly, Renal cyst |
OMIM:614862 |
Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Dark urine, Pancreatitis, Jaundice, Cholesterol gallstones, Cholel... |
ORPHA:521219 |
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome |
|
Non-midline cleft lip, Cleft palate |
ORPHA:1484 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Renal cyst |
OMIM:617100 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Focal EEG discharges with secondary generalization, Anorexia, Ag... |
ORPHA:3077 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Hypoplasia of the bladder, Renal agenesis, Malformation of the hepatic ductal p... |
OMIM:249000 |
Diamond-Blackfan Anemia 6 |
|
Cleft upper lip, Hypertelorism, Short thumb, Cleft palate, Triphalangeal thumb, Bifid uvula |
OMIM:612561 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
EEG with polyspike wave complexes, Hyperactivity |
OMIM:617169 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Cleft upper lip, Cleft palate |
OMIM:601076 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Frontal bossing, Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcane... |
ORPHA:163966 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Sandal gap, Tapered finger, Hypertelorism, Cleft lip, Narrow mouth, Small hand, Cleft palate, Sho... |
OMIM:618089 |
Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Congestive heart failure, Bradycardia |
OMIM:619048 |
Joubert Syndrome 15 |
|
Micropenis, Nephronophthisis |
OMIM:614464 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Short femur, Bilateral cleft lip, Cleft upper lip, Foot oligodactyly |
OMIM:601357 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Short metatars... |
OMIM:617102 |
Split-Hand/Foot Malformation 3 |
|
Split hand, Renal hypoplasia, Cleft palate, High palate, Narrow mouth, Camptodactyly |
OMIM:246560 |
Orofaciodigital Syndrome Type 1 |
|
Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, Multicystic kid... |
ORPHA:2750 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Hypertelorism, Polydactyly, Nephroblastoma, Smooth philtrum |
OMIM:602501 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Vesicoureteral reflux, Renal cortical cysts |
OMIM:618548 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms |
OMIM:615541 |
Jackson-Weiss Syndrome |
|
Broad hallux, Calcaneonavicular fusion, Craniosynostosis, Hallux varus, Broad first metatarsal, 2... |
OMIM:123150 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Inability to walk, Sensorineural hearing impairment, Preling... |
ORPHA:52368 |
3Mc Syndrome 3 |
|
Cleft upper lip, Hypertelorism, Preaxial polydactyly, Cleft palate, Micropenis, Horseshoe kidney,... |
OMIM:248340 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... |
ORPHA:400 |
Muenke Syndrome |
|
Broad hallux, Capitate-hamate fusion, Clinodactyly, Brachycephaly, Cone-shaped epiphyses of the p... |
OMIM:602849 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Aganglionic megacolon, Tarsa... |
ORPHA:2473 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Cleft upper lip, Cleft palate, Micropenis, Tooth agenesis, Ectrodactyly, Clinodactyly |
OMIM:147950 |
Joubert Syndrome 10 |
|
Deep philtrum, Thick vermilion border, Postaxial polydactyly |
OMIM:300804 |
Orofaciodigital Syndrome Type 2 |
|
Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tibia, Finger syn... |
ORPHA:2751 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Thin upper lip vermilion, Sandal gap, Dental crowding, Postaxial polydactyly, Hypospadias, Downtu... |
OMIM:615761 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Cirrhosis, Hepatic failure |
OMIM:602579 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Tapered finger, Clef... |
OMIM:239300 |
Distal Monosomy 7Q36 |
|
Hypoplasia of penis, Non-midline cleft lip, Cleft palate, Symphalangism affecting the phalanges o... |
ORPHA:1636 |
Oculomaxillofacial Dysostosis |
|
Brachydactyly, Median cleft lip, Camptodactyly of finger, Abnormality of the dentition, Abnormali... |
ORPHA:1794 |
Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Overlapping toe, Hypertelorism, Cleft palate, High palate, Open mouth |
OMIM:620021 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Thin upper lip vermilion, Tented upper lip vermilion, Rocker bottom foot, Single transverse palma... |
OMIM:618622 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Tapered finger, Hypertelorism, Urethral stenosis, Orofacial ... |
ORPHA:261290 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Hypospadias, Abnormality of the alveolar ridges, Cleft up... |
OMIM:225500 |
Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
Pierpont Syndrome |
|
Short toe, Brachycephaly, Deep palmar crease, Short finger, Prominent fingertip pads, Microphthal... |
ORPHA:487825 |
Pallister-Hall Syndrome |
|
Ectopic kidney, Renal cyst, Anteriorly placed anus, Neonatal death, Micropenis, Distal shortening... |
OMIM:146510 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar crease, Cleft upper... |
OMIM:305400 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral re... |
OMIM:137920 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Non-midline cleft lip, Lip pit |
ORPHA:1072 |
Verheij Syndrome |
|
Thin upper lip vermilion, Renal agenesis, Hip dislocation, Renal hypoplasia, Cleft palate, Renal ... |
OMIM:615583 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Preaxial hand polydactyly, Deep philtrum, Non-midli... |
ORPHA:1297 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, High palate, Clinodactyly of the 5t... |
ORPHA:3103 |
Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
Smith-Magenis Syndrome |
|
Toe syndactyly, Tented upper lip vermilion, Delayed eruption of primary teeth, Cleft upper lip, H... |
ORPHA:819 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... |
OMIM:618920 |
Trisomy 9P |
|
Dental crowding, Bilateral single transverse palmar creases, Hypertelorism, Non-midline cleft lip... |
ORPHA:236 |
Fanconi Anemia, Complementation Group G |
|
Abnormal thumb morphology, Microphthalmia |
OMIM:614082 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
Cln5 Disease |
|
Hyperactivity, Ataxia, EEG with spike-wave complexes, Aggressive behavior, Inability to walk, Uns... |
ORPHA:228360 |
Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Tapered finger, Hypertelorism, Triangular mouth, Flattened epiphysis, Genu ... |
OMIM:607131 |
Coloboma Of Macula And Skeletal Anomalies |
|
Hallux valgus, Coxa valga, Cleft palate, Contracture of the distal interphalangeal joint of the 5... |
OMIM:216800 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... |
OMIM:212138 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... |
OMIM:614954 |
Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Unilateral renal agenesis, Non-midline cleft lip, Hypoplasia of ... |
ORPHA:245 |
Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Syndactyly, Hamartoma of tongue, Cleft upper lip, Hypertelorism, S... |
OMIM:311200 |
Pai Syndrome |
|
Median cleft lip, Hypertelorism, Cleft palate, Abnormal oral frenulum morphology, Bifid uvula |
ORPHA:1993 |
Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... |
OMIM:609620 |
17Q12 Microduplication Syndrome |
|
Microphthalmia, Finger syndactyly, Toe syndactyly, Polyhydramnios |
ORPHA:261272 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Decrease... |
OMIM:614922 |
Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Median cleft lip, Absent thumb, Aplasia/Hypoplasia of the dist... |
ORPHA:1234 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hypertelorism, Bifid uvula, Cleft palate, Cleft upper lip |
OMIM:300958 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Limited elbow extension, Short metatarsal, Flattened epiphy... |
ORPHA:1856 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c... |
OMIM:619525 |
Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint... |
OMIM:603543 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Tapered finger, Hypertelorism, Bilateral cleft lip and palate, Deep... |
OMIM:618829 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Plagiocephaly, Syndactyly, Clinodactyly of the 5th finger, Tapered finger |
OMIM:618725 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Cleft upper lip, Cleft palate, Hypotelorism, Deeply set eye, Palmoplantar cutis laxa, Abnormal di... |
OMIM:268850 |
Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:618161 |
Summitt Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Genu valgum, Plagiocephaly, Short p... |
ORPHA:3210 |
Microgastria-Limb Reduction Defect Syndrome |
|
Frontal bossing, Abnormal morphology of the radius, Anophthalmia, Aplastic clavicle, Abnormality ... |
ORPHA:2538 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Splenomegaly, Chronic kidney disease, Cholestasis, Hepatic fibrosis, Nephronophthis... |
OMIM:615630 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Pelger-Huet Anomaly |
|
Abnormality of the dentition, Hypertelorism, Upper limb undergrowth, Gingival overgrowth, Polydac... |
OMIM:169400 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Cystic renal dysplasia, Enlarge... |
OMIM:200995 |
Joubert Syndrome 27 |
|
Dilatation of the renal pelvis, Thick lower lip vermilion, Polydactyly |
OMIM:617120 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Flat capital femoral ... |
OMIM:147891 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
EEG with burst suppression, Abnormal autonomic nervous system physiology, Optic atrophy, Bradycardia |
OMIM:614498 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomer... |
OMIM:232200 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Mesoaxial hand polydactyly, Postaxial polydactyly, Renal hypoplasia, Postaxi... |
OMIM:615996 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia, Talipes equinovarus, Intrauterine growth retardation |
OMIM:616171 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Athetosis |
ORPHA:382 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Dental crowding, Upper limb asymmetry, High palate, Polydactyly, Clinodactyly of the 5th finger |
ORPHA:231140 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Frontal bossing, Coxa valga, Slender finger, Abnormality of the elbow, Brachycephaly, Flat acetab... |
ORPHA:163649 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, EEG ... |
ORPHA:206443 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ... |
OMIM:608022 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Ureteral duplication, Renal insufficiency, Renal dys... |
OMIM:608836 |
Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Hypospadias, Coronal hypospadias, Short toe, Cleft palate, Ulnar deviation of fin... |
ORPHA:921 |
Bartsocas-Papas Syndrome 2 |
|
2-5 finger cutaneous syndactyly, Small hand, Prominent occiput, Absent distal phalanges, Micropht... |
OMIM:619339 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Hypertelorism, Malrotation of colon, Abnormal ossification involving the... |
ORPHA:1190 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Frontal bossing, Arachnodactyly, Postaxial polydactyly, Tapered finger, Brachycephaly, Genu valgu... |
OMIM:619721 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Femoral bowing, Broad distal ... |
OMIM:311300 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Broad-based gait, Ataxia, EEG abnormality, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Schisis Association |
|
Renal agenesis, Micromelia, Tracheoesophageal fistula, Cleft palate, Unilateral cleft lip, Anal a... |
ORPHA:63862 |
Hogue-Janssen Syndrome 2 |
|
Tented upper lip vermilion, Broad hallux, Postaxial polydactyly, Hypertelorism, Unilateral renal ... |
OMIM:616362 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Frontal bossing, Brachycephaly, Intrauterine growth retardation, Microphthalmia, C... |
ORPHA:228390 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Sinus bradycardia, Second degree atrioventricular block, Syncope, Palpitations, Difficulty walkin... |
OMIM:616812 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Splenomegaly, Neph... |
OMIM:232220 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i... |
OMIM:601455 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Arachnodactyly, Hypospadias, Dental malocclusion, Hypotelorism, Abn... |
ORPHA:2115 |
Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Hypertelorism, Thenar muscle atrophy, Horseshoe kidney, Crossed fused renal ectopia, Median cleft... |
ORPHA:2213 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Car... |
ORPHA:1215 |
Peroxisome Biogenesis Disorder 1B |
|
Hepatomegaly, Hyperoxaluria, Renal cyst, Hepatic fibrosis, Cirrhosis |
OMIM:601539 |
Renal Hypoplasia, Bilateral |
|
Proteinuria, Cryptorchidism, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguria, Beta... |
ORPHA:97362 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon... |
ORPHA:2059 |
Diprosopus |
|
Non-midline cleft lip, Cleft palate |
ORPHA:1681 |
Rhizomelic Syndrome, Urbach Type |
|
Brachydactyly, Rhizomelia, Abnormality of the humerus, Preaxial hand polydactyly, Abnormality of ... |
ORPHA:3098 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Renal dysplasia, Left ventricular hypertrophy, Abnormal renal corticomedullary differentiation |
OMIM:616733 |
Achondrogenesis, Type Ii |
|
Frontal bossing, Broad long bones, Edema, Short tubular bones of the hand, Abnormally large globe... |
OMIM:200610 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Glomerulomegaly, Bilateral renal hyp... |
ORPHA:2260 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Hypertelorism, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Sti... |
OMIM:119800 |
Tarp Syndrome |
|
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypertelorism, Hypopl... |
OMIM:311900 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinuria, Abnormal morphology of ulna, T... |
ORPHA:1307 |
Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Cranial nerve compression, Jaw claudication, Abnormal glossopharyngeal... |
ORPHA:221098 |
Microphthalmia, Syndromic 11 |
|
Cleft palate, Cleft upper lip |
OMIM:614402 |
Joubert Syndrome 14 |
|
Tented upper lip vermilion, Postaxial polydactyly, Hypertelorism, Cleft palate, Renal cyst, Deepl... |
OMIM:614424 |
Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Micromelia, Proximal placement of thumb, Ectopic kidney, High, n... |
OMIM:122470 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, EEG abnormality,... |
ORPHA:500180 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Decreased nerve conduction velocity, Hypsarrhythmia, EEG abnormality, Tip-toe ... |
ORPHA:565624 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... |
ORPHA:93322 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Frontal bossing, Anophthalmia, Optic nerve hypoplasia, Craniosynostosis, Proboscis... |
OMIM:605627 |
Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infection... |
ORPHA:2970 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foo... |
OMIM:615986 |
Cofs Syndrome |
|
Microphthalmia, Camptodactyly of finger, Intrauterine growth retardation |
ORPHA:1466 |
Septooptic Dysplasia |
|
Optic disc hypoplasia, Polydactyly, Optic nerve hypoplasia, Short finger |
OMIM:182230 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Hypospadias, Polydactyly, Hypoplastic ischia, Hypertelorism |
OMIM:616910 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... |
ORPHA:567983 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Self-injurious behavior |
OMIM:271980 |
Bohring-Opitz Syndrome |
|
Syndactyly, Bilateral cleft palate, Overlapping toe, Ulnar deviation of the wrist, Intestinal mal... |
OMIM:605039 |
17Q12 Microdeletion Syndrome |
|
Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Renal hypoplasi... |
ORPHA:261265 |
Microphthalmia, Isolated 5 |
|
Microphthalmia, Cystoid macular edema |
OMIM:611040 |
Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly, Non-midline cleft lip, Cleft palate, Tooth agenesis, Long philtrum |
ORPHA:1252 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Optic atrophy, Bradycardia |
OMIM:614702 |
D-Glyceric Aciduria |
|
Optic nerve hypoplasia, Sensorineural hearing impairment, Tongue thrusting, Hypsarrhythmia, Brady... |
OMIM:220120 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Abnormality of the urinary system, Postaxial polydactyly |
OMIM:213010 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Cat-Eye Syndrome |
|
Microphthalmia, Hip dysplasia, Intrauterine growth retardation |
ORPHA:195 |
Nail-Patella Syndrome |
|
Biceps aplasia, Renal insufficiency, Glenoid fossa hypoplasia, Proteinuria, Glomerulonephritis, C... |
OMIM:161200 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar... |
OMIM:601005 |
Ring Chromosome 10 Syndrome |
|
Frontal bossing, Sandal gap, Tapered finger, Microphthalmia, Intrauterine growth retardation |
ORPHA:1438 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Metaphyseal... |
ORPHA:440354 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Smooth philtrum, Thin upper lip vermilion, Deeply set eye, Cleft palate |
OMIM:611867 |
Moebius Syndrome |
|
Syndactyly, Brachydactyly, Microphthalmia, Split hand, Abnormal pelvic girdle bone morphology, Ta... |
OMIM:157900 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Stage 5 chronic kidney disease, Short long bone, Polydactyly, Hepatic cysts, Brachydactyly |
OMIM:613819 |
Oculodentodigital Dysplasia |
|
Hypotelorism, Deeply set eye, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental ... |
ORPHA:2710 |
Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Cleft lip, Cleft palate, Short philtrum, Everted lower lip vermilion |
OMIM:616898 |
Acalvaria |
|
Postaxial hand polydactyly, Cleft palate, Hypertelorism |
ORPHA:945 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Broad proximal phalanges of the hand, Cleft upper lip, High, narrow palate, Cleft palate, Short foot |
OMIM:607597 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Turricephaly, Craniosynostosis, Micromelia, Split hand, Brachycephaly, Oligohy... |
ORPHA:2145 |
Opitz Gbbb Syndrome |
|
Thin upper lip vermilion, Hypospadias, Cleft upper lip, Rectourethral fistula, Hypertelorism, Ves... |
OMIM:300000 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Anophthalmia, Brachycephaly, Short foot, ... |
ORPHA:264200 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Sh... |
ORPHA:1507 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Aggressive behavior, Prominent crus of helix, Attention deficit hyperactivity diso... |
OMIM:301013 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... |
OMIM:609040 |
Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Cleft upper lip, Hypertelorism, Duplication of phalanx of hallux, Orofa... |
OMIM:243310 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Encephalocele, Portal hypertension... |
ORPHA:974 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Splenome... |
OMIM:276700 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Thin upper lip vermilion, Overlapping toe, Postaxial polydactyly, Tapered finger, Hypertelorism, ... |
OMIM:613792 |
Opitz-Kaveggia Syndrome |
|
Dental crowding, Single transverse palmar crease, Anteriorly placed anus, Prominent fingertip pad... |
OMIM:305450 |
Triploidy |
|
Finger syndactyly, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Hypertelorism, Non-m... |
ORPHA:3376 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Oligodontia, Micropenis, Cleft soft palate, Hypertelorism, Gingival overgrowth, ... |
OMIM:616331 |
Seckel Syndrome 2 |
|
Clinodactyly of the 5th finger, Microphthalmia, Heart murmur |
OMIM:606744 |
Trochlea Of The Humerus, Aplasia Of |
|
Short humerus, Cleft palate |
OMIM:191000 |
Holoprosencephaly 11 |
|
Cleft lip, Proptosis, Cleft palate, Hypotelorism |
OMIM:614226 |
Aminopterin Syndrome Sine Aminopterin |
|
Frontal bossing, Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short th... |
OMIM:600325 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Renal agenesis, Hamartoma of tongue, Hypertelorism, Renal hypo... |
ORPHA:2754 |
Recombinant 8 Syndrome |
|
Camptodactyly of finger, Abnormality of the kidney, Cleft upper lip, Abnormality of the dentition... |
ORPHA:96167 |
Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Single transverse palmar crease, Bilateral c... |
OMIM:616788 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior |
OMIM:612716 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Nephroblastoma, Stage 5 chronic kidney disease, Nephrotic syndrome, ... |
OMIM:194080 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,... |
ORPHA:93111 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation |
OMIM:615516 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia |
OMIM:614654 |
Campomelia, Cumming Type |
|
Bowing of the long bones, Multicystic kidney dysplasia, Micromelia, Pancreatic cysts, Cleft palat... |
ORPHA:1318 |
Dystonia-Deafness Syndrome 1 |
|
Cleft palate, Hypoplastic scapulae, Femoral retroversion, Cleft upper lip |
OMIM:607371 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Congenital hepatic fibrosis, Multicystic kidney dysplasia, Renal cyst |
ORPHA:2031 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Intestinal pseudo-obstruction, A... |
ORPHA:73246 |
Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Non-midline cleft lip, Hypopl... |
ORPHA:246 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatomegaly,... |
OMIM:619534 |
Zaki Syndrome |
|
Toe syndactyly, Renal agenesis, Long fingers, Wide mouth, Median pseudocleft lip, Ectrodactyly, H... |
OMIM:619648 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Recurrent urinary tract infections, Portal hypertension, Cholestas... |
OMIM:613658 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Incomplete cleft of the upper lip, Deep philtrum, Intestinal malrotation, Orofacial cleft |
ORPHA:77300 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... |
ORPHA:107 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,... |
OMIM:208085 |
Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephrotic syndrome, Hypoplasia... |
ORPHA:110 |
Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Postaxial polydactyly, Diastema, Genu valgum, Short philt... |
OMIM:619142 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Bardet-Biedl Syndrome 8 |
|
Brachycephaly, Postaxial polydactyly |
OMIM:615985 |
Tetraamelia Syndrome 2 |
|
Bilateral cleft lip, Hypertelorism, Cleft palate, Glossoptosis, Micropenis, Ankyloglossia |
OMIM:618021 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, High palate, Arthral... |
ORPHA:93307 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Occipital encephalocele, Postaxial... |
OMIM:619879 |
Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Abnormality of the spleen, Abnormality of the ureter, Renal cyst, Abnor... |
ORPHA:1834 |
Rhombencephalosynapsis |
|
Finger syndactyly, Aganglionic megacolon, Hypertelorism, Esophageal atresia, Abnormal renal morph... |
ORPHA:59315 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Pulmon... |
OMIM:620141 |
Pelvis-Shoulder Dysplasia |
|
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short... |
OMIM:169550 |
Alagille Syndrome 1 |
|
Elevated hepatic transaminase, Duplicated collecting system, Hepatocellular carcinoma, Multiple s... |
OMIM:118450 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Abnormality of the kidney, Conica... |
OMIM:263750 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, EEG w... |
OMIM:261740 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Ulnar deviation of the hand, Hypertelorism, Metaphyseal widening, Short long bone, Proptosis, Nar... |
OMIM:263210 |
Kapur-Toriello Syndrome |
|
Single transverse palmar crease, Camptodactyly of finger, Cleft upper lip, Intestinal malrotation... |
OMIM:244300 |
Pseudotrisomy 13 Syndrome |
|
Renal agenesis, Cleft upper lip, Postaxial hand polydactyly, 2-3 toe syndactyly, Renal hypoplasia... |
OMIM:264480 |
Vacterl/Vater Association |
|
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis... |
ORPHA:887 |
3P25.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered fin... |
ORPHA:435638 |
Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Micromelia, Absent thumb, Absent radius, Humeroradial synostosis, Forearm under... |
OMIM:251230 |
Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Enlarged polycystic ovaries, Abnormality of th... |
ORPHA:2869 |
Osteoporosis-Pseudoglioma Syndrome |
|
Frontal bossing, Crumpled long bones, Metaphyseal widening, Microphthalmia, Abnormal femoral neck... |
ORPHA:2788 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia, Midface retrusion |
ORPHA:1135 |
2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Multicystic kidney dysplasia,... |
ORPHA:1001 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cleft palate, Cleft upper lip |
OMIM:214300 |
Bresek Syndrome |
|
Optic nerve hypoplasia, Postaxial hand polydactyly, Plagiocephaly, Microphthalmia, Intrauterine g... |
ORPHA:85284 |
3Mc Syndrome 2 |
|
Hypospadias, Limited elbow movement, Cleft upper lip, Hypertelorism, Hip dislocation, Cleft palat... |
OMIM:265050 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Toe syndactyly, Bilateral single transverse palmar creases, Abnormal dental mo... |
ORPHA:3253 |
Pfeiffer Syndrome Type 1 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short h... |
ORPHA:93258 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short femur, Fractured radius, Hypospadias, Decreased fibular diameter, Hypertelorism, Flared met... |
OMIM:616897 |
Trisomy 20P |
|
Downturned corners of mouth, Short philtrum, Microdontia, Finger syndactyly, Hypospadias, Abnorma... |
ORPHA:261318 |
Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
Monosomy 18P |
|
Lymphedema, Brachycephaly, Hypertension, Microphthalmia, Brachydactyly |
ORPHA:1598 |
Idiopathic Congenital Hypothyroidism |
|
Bradycardia |
ORPHA:95717 |
Short Stature And Facioauriculothoracic Malformations |
|
High palate, Cleft palate, Cleft upper lip |
OMIM:609654 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Broad toe, Tented upper lip vermilion, Dental crowding, Rocker bottom foot, Cleft upper lip, Hype... |
OMIM:612582 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
EEG with burst suppression, Hyperactivity, Pulmonic stenosis, Hypsarrhythmia |
OMIM:619239 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, Focal segmental glomerulosclerosis, ... |
OMIM:617303 |
Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... |
ORPHA:93260 |
Joubert Syndrome 40 |
|
Optic nerve hypoplasia, Postaxial polydactyly |
OMIM:619582 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
Aminopterin/Methotrexate Embryofetopathy |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Hypertelorism, Non-midline cleft ... |
ORPHA:1908 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2 |
|
Bilateral cleft lip |
OMIM:616994 |
Catel-Manzke Syndrome |
|
Single transverse palmar crease, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid... |
OMIM:616145 |
Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio... |
ORPHA:2712 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Sandal gap, Lens coloboma, 2-3 toe syndactyly, Small thenar eminence, Umbilical hernia, Joint con... |
OMIM:618914 |
Otopalatodigital Syndrome Type 2 |
|
Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Anodontia, Synostosis of carpal bone... |
ORPHA:90652 |
Hydrolethalus Syndrome 2 |
|
Postaxial foot polydactyly, Preaxial foot polydactyly, Postaxial hand polydactyly, Cleft palate |
OMIM:614120 |
Temtamy Syndrome |
|
Aortic regurgitation, Frontal bossing, Hip dislocation, Short 2nd toe, Talipes equinovarus, Micro... |
OMIM:218340 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Abnormal urinary color, Jaundice, Biliary tract abnormality, Abnormality of the liver |
ORPHA:234 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Abnormality of the kidney, Tibial torsion, Aplasia/hypoplasia of the humerus, ... |
ORPHA:3320 |
Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu... |
OMIM:243910 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary tract abnormality, Acholic sto... |
ORPHA:1414 |
Multiple Pterygium Syndrome, X-Linked |
|
Cleft palate, Hypertelorism, Short finger, Cleft upper lip |
OMIM:312150 |
Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Lobulated tongue, Short palm, Neonatal death, Hamartoma of tongue, Hypertelor... |
OMIM:269860 |
Congenital Toxoplasmosis |
|
Microphthalmia, Ascites, Intrauterine growth retardation |
ORPHA:858 |
Sandestig-Stefanova Syndrome |
|
Rocker bottom foot, Intrauterine growth retardation, Camptodactyly, Trigonocephaly, Microphthalmi... |
OMIM:618804 |
Rhyns Syndrome |
|
Renal insufficiency, Decreased response to growth hormone stimulation test, Chronic kidney diseas... |
OMIM:602152 |
Rapp-Hodgkin Syndrome |
|
Syndactyly, Hypospadias, Conical tooth, Cleft upper lip, Carious teeth, 2-3 toe cutaneous syndact... |
OMIM:129400 |
Solitary Median Maxillary Central Incisor |
|
Cleft upper lip, Hypotelorism, Prominent median palatal raphe, Torus palatinus, Solitary median m... |
OMIM:147250 |
Duane-Radial Ray Syndrome |
|
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Upper lim... |
OMIM:607323 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Intestinal malrotation, Postaxial polydactyly, Deep philtrum, 2-3 toe s... |
ORPHA:404440 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Cleft upp... |
OMIM:211350 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia, Intrauterine growth retardation |
ORPHA:2470 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... |
ORPHA:199306 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Polyhydramnios, Spina bifida, Hypoplasia of the radius, Hip dislocation, Microphtha... |
ORPHA:3412 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Frontal bossing, Syndactyly, Short 5th finger, Polydactyly, Ectrodactyly, Small placenta, Clinoda... |
ORPHA:397590 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Hypertelorism, Absence of renal corticomedullary differentiation, Renal hypoplasia, Short foot, W... |
OMIM:619758 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Microphthalmia, 3-4 finger syndactyly |
OMIM:615877 |
Atelosteogenesis Type Ii |
|
Micromelia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand or of fingers... |
ORPHA:56304 |
Acitretin/Etretinate Embryopathy |
|
Cupped ear, Microtia, Third degree atrioventricular block, Bradycardia, Bilateral sensorineural h... |
ORPHA:40366 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Polycystic kidney dysplasia, Hepatosplenomegaly |
OMIM:608776 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria |
ORPHA:251004 |
16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Camptodactyly of finger, Cleft upper lip, Clef... |
ORPHA:261236 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Broad-based gait, Hyperactivity, Hearing impairment, Aggressive behavior |
ORPHA:457260 |
Joubert Syndrome 37 |
|
Postaxial polydactyly, Hypertelorism, Deeply set eye, High palate, Micropenis, Hydronephrosis |
OMIM:619185 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Abnormality of the dentition, Deep philtr... |
OMIM:615398 |
Branchiootorenal Syndrome 1 |
|
Renal dysplasia, Renal malrotation, Congenital hip dislocation, Intestinal malrotation, Unilatera... |
OMIM:113650 |
Holoprosencephaly 4 |
|
Hypotelorism, Median cleft lip, Median cleft lip and palate |
OMIM:142946 |
Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, Micromelia, High, narrow palate, Abnormality of the gingiva, Oro... |
ORPHA:2753 |
Abcd Syndrome |
|
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... |
OMIM:600501 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile... |
ORPHA:562639 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hypospadias, Selective tooth agenesis, Conical tooth, Cleft upper lip, 2-3 toe syndactyly, Cleft ... |
OMIM:106260 |
Curry-Jones Syndrome |
|
Occipital meningocele, Duplication of thumb phalanx, Unicoronal synostosis, Preaxial hand polydac... |
OMIM:601707 |
Renal Agenesis, Bilateral |
|
Renal agenesis, Hypertelorism, Non-midline cleft lip, Tracheoesophageal fistula, Cleft palate, Si... |
ORPHA:1848 |
Glutamine Deficiency, Congenital |
|
Bradycardia, Low-set ears |
OMIM:610015 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Sandal gap, Pulmonary arterial hypertension |
OMIM:300887 |
Spondylocarpotarsal Synostosis Syndrome |
|
Carpal synostosis, Epiphyseal dysplasia, Scapular winging, Short metacarpal, Bowed humerus, Tarsa... |
OMIM:272460 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Short metatarsal, Renal cyst, Widely spaced teeth, High palate, Nephronopht... |
OMIM:266920 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Nephrocalcinosis, Short long bone, Postaxial polydactyly, Brachydactyly |
OMIM:615633 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Renal insufficiency, Renal cyst, Nephrocalcinosis, 3-Methylglutaco... |
ORPHA:445038 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Preaxial hand polydactyly, Postaxi... |
OMIM:263520 |
Fryns Syndrome |
|
Ureteral duplication, Tented upper lip vermilion, Single transverse palmar crease, Proximal place... |
OMIM:229850 |
Martsolf Syndrome 1 |
|
Short metacarpal, Cardiac arrest, Metatarsus adductus, Slender ulna, Short toe, Osteopathia stria... |
OMIM:212720 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi... |
OMIM:308050 |
Cousin Syndrome |
|
Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio... |
OMIM:260660 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Camptodactyly of finger, Intrauterine growth retardation |
ORPHA:48431 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Propto... |
OMIM:617895 |
Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Fibular ... |
OMIM:165590 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Cleft lip, Clinodactyly, Cleft palate, Micropenis |
OMIM:614838 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Osteopathia striata, High palate, Clinodactyly of the 5th finger, Bifid uvula, M... |
OMIM:300373 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Micromelia, Renal hypoplasia/aplasia, High, narrow ... |
ORPHA:3015 |
Koolen-De Vries Syndrome |
|
Recurrent urinary tract infections, Cleft upper lip, Pyloric stenosis, Hypotrophy of the small ha... |
OMIM:610443 |
Focal Facial Dermal Dysplasia Type Iv |
|
Cleft palate, Cleft upper lip |
ORPHA:398189 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Occipital encephalocele |
ORPHA:324416 |
Illum Syndrome |
|
Bradycardia |
OMIM:208155 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Hypospadias, Hypertelorism, Cleft upper lip, Split hand, Clubbing, Cleft palate, Micropenis |
OMIM:600460 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Hypertrophic cardiomyopathy, Single transverse palmar crease, Oligohydramnios |
OMIM:619053 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Renal cyst |
ORPHA:480536 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Renal hypoplasia/aplas... |
ORPHA:3186 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior |
OMIM:620023 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia, Cubitus valgus, Down-sloping shoulders, Camptodactyly |
OMIM:619694 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Frontonasal Dysplasia 3 |
|
Microphthalmia, Brachycephaly |
OMIM:613456 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Multiple renal cy... |
ORPHA:464329 |
Mody |
|
Abnormality of the kidney, Hepatocellular adenoma, Renal cyst, Glycosuria, Nephropathy, Pancreati... |
ORPHA:552 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Thin upper lip vermilion, Single transverse palmar crease, Intestinal malrotation, Hy... |
OMIM:614701 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand... |
OMIM:609945 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Frontal bossing, Short femur, Limited interphalangeal movement, Limited e... |
OMIM:147750 |
Lissencephaly 8 |
|
Microphthalmia, Occipital encephalocele, Talipes equinovarus |
OMIM:617255 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Renal ... |
OMIM:610199 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia, Clinodactyly |
OMIM:619981 |
Optic Atrophy 11 |
|
Hyperactivity, Decreased sensory nerve conduction velocity, Ataxia, Optic nerve hypoplasia, Gait ... |
OMIM:617302 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
Pentalogy Of Cantrell |
|
Hypospadias, Renal agenesis, Abnormal tibia morphology, Split hand, Non-midline cleft lip, Cleft ... |
ORPHA:1335 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Rocker bottom foot, Camptodactyly of finger, Adducted thumb, Flared metaphysis, Hip dislocation, ... |
OMIM:610758 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Thin upper lip vermilion, Hypertelorism, Cleft lip, 2-3 toe cutaneous syndactyly, Vesicoureteral ... |
OMIM:618454 |
Bardet-Biedl Syndrome 12 |
|
Hydroureter, Postaxial hand polydactyly, Postaxial foot polydactyly, Hydronephrosis, Polydactyly,... |
OMIM:615989 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Abnormal left ventricular function, Microphthalmia, Cardiomyopathy |
OMIM:613155 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Chromosome 18Q Deletion Syndrome |
|
Thin upper lip vermilion, Toe syndactyly, Overlapping toe, Rocker bottom foot, Proximal placement... |
OMIM:601808 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Acromelic Frontonasal Dysplasia |
|
Median cleft lip, Hypertelorism, Patellar hypoplasia, Wide mouth, Talipes equinovarus, Preaxial f... |
ORPHA:1827 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Carpal synostosis, Abnormality of ... |
ORPHA:2010 |
Acrofrontofacionasal Dysostosis 1 |
|
Short metacarpal, Cleft upper lip, Hypertelorism, Cleft palate, Wide mouth, Oligodontia, Acetabul... |
OMIM:201180 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Foot oligodactyly, Triphalangeal thumb, Broad hallux, Cleft uppe... |
OMIM:154400 |
Desbuquois Dysplasia 2 |
|
Dental crowding, Single transverse palmar crease, Metaphyseal widening, Short phalanx of finger, ... |
OMIM:615777 |
Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
Familial Thyroid Dyshormonogenesis |
|
Sensorineural hearing impairment, Bradycardia |
ORPHA:95716 |
Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... |
ORPHA:93259 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Hepatic calcification, Renal tubul... |
ORPHA:157 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:77298 |
Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Mal... |
ORPHA:1225 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Posteriorly rotated ears, Aganglionic megacolon, Cupped ear, Hypertension, Agitation... |
OMIM:613870 |
Constricting Bands, Congenital |
|
Syndactyly, Cleft upper lip, Cleft palate, Hand polydactyly, Talipes equinovarus, Bladder exstrophy |
OMIM:217100 |
Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Portal hypertension, Pancreatic cysts, Abnormal mesentery morphology,... |
ORPHA:284 |
Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Cleft upper lip, Hypertelorism, Preaxial polydactyly, Preaxial foot polydactyly, Pate... |
OMIM:603671 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Nonimmune hydrops fetalis, Craniosynostosis, Plagiocephaly, Slender long bone, Decreased calvaria... |
OMIM:618265 |
Chromosome 15Q25 Deletion Syndrome |
|
Tented upper lip vermilion, Cleft upper lip, Hypertelorism, Long fingers, Cleft palate, Thin verm... |
OMIM:614294 |
Cockayne Syndrome Type 2 |
|
Intrauterine growth retardation, Anophthalmia |
ORPHA:90322 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... |
ORPHA:85167 |
Developmental And Epileptic Encephalopathy 1 |
|
Plagiocephaly, Microphthalmia |
OMIM:308350 |
Kleefstra Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Tented upper lip vermilion, Exaggerated cupid's b... |
ORPHA:261494 |
Igg4-Related Kidney Disease |
|
Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nephritis, Cholecy... |
ORPHA:449395 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Multicystic kidney dysplasia, Hypertelorism, Hypoplas... |
ORPHA:85201 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Attention deficit hyperactivity diso... |
OMIM:610042 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Scapular winging, Down-sloping shoulders, Tapered finger, Carious teeth, Dental malocclusion, Ren... |
OMIM:615560 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Self-injurious behavior, Sk... |
OMIM:600430 |
Walker-Warburg Syndrome |
|
Metatarsus valgus, Microphthalmia, Anophthalmia |
ORPHA:899 |
Stevenson-Carey Syndrome |
|
Brachycephaly, Hip dysplasia, Camptodactyly, Microphthalmia, Joint contracture of the hand |
OMIM:611961 |
3Mc Syndrome 1 |
|
Dental crowding, Single interphalangeal crease of fifth finger, Cleft upper lip, Hypertelorism, C... |
OMIM:257920 |
Oculodentodigital Dysplasia |
|
Neurogenic bladder, Selective tooth agenesis, Microdontia, Cleft upper lip, Carious teeth, 4-5 fi... |
OMIM:164200 |
Frontometaphyseal Dysplasia 1 |
|
Selective tooth agenesis, Limited elbow movement, Increased density of long bone diaphyses, High ... |
OMIM:305620 |
Emanuel Syndrome |
|
Delayed eruption of teeth, Congenital hip dislocation, Dental crowding, Unilateral renal agenesis... |
ORPHA:96170 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Rocker bottom foot, Coxa valga, Elbow flexion contracture, Dehydration, Second metatarsal posteri... |
OMIM:214150 |
Cerebrocostomandibular Syndrome |
|
Short humerus, Anal stenosis, Congenital hip dislocation, Calcaneal epiphyseal stippling, Cleft s... |
OMIM:117650 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Lip pit, Non-midline cleft lip, Spli... |
ORPHA:1300 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Ataxia, Aggressive behavior, EEG with generalized polyspikes, EEG with generalized... |
ORPHA:163681 |
Gracile Bone Dysplasia |
|
Flared metaphysis, Slender long bone, Aniridia, Microphthalmia, Ascites, Brachydactyly |
OMIM:602361 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Aplasia of the epiglottis, High palate, Clinodactyly of the 5th fing... |
OMIM:268305 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Brachycephaly, Clinodactyly of the 5th finger,... |
OMIM:201000 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Splenomegaly, Hepatomegaly, Reduced renal corticomedullary differentiation |
OMIM:618541 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Edema, Pulmonary edema |
OMIM:178400 |
Meckel Syndrome |
|
Encephalocele, Bowing of the long bones, Anophthalmia, Preaxial hand polydactyly, Postaxial hand ... |
ORPHA:564 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Rocker bottom foot, Micromelia, Camptodactyly of finger, Elbow dislocation, ... |
ORPHA:99776 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Camptodactyly of finger, Rocker bottom foot, Intrauterine growth retardation |
OMIM:610756 |
Joubert Syndrome 17 |
|
Abnormal renal morphology, Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
Warburg Micro Syndrome 1 |
|
Microphthalmia, Overlapping toe |
OMIM:600118 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He... |
ORPHA:65682 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Frontal bossing, Rhizomelia, Postaxial polydactyly, Edema, Polyhydramnios, Epiphyseal stippling, ... |
OMIM:302960 |
Naxos Disease |
|
Palmoplantar keratoderma, Cleft upper lip |
ORPHA:34217 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Single transverse palmar crease, Hypertelorism, Metatarsus adductus, Cleft palate, Aminoaciduria,... |
OMIM:214110 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Ureteral stenosis, Single transverse palmar crease, Rock... |
OMIM:272950 |
Joubert Syndrome 3 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:608629 |
Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, High, narrow palate, Supernumerary tooth, Small hand, Oligodontia, Unilateral ... |
ORPHA:1787 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Pheochrom... |
OMIM:193300 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... |
ORPHA:69663 |
Congenital Myopathy 17 |
|
Ureteropelvic junction obstruction, Tented upper lip vermilion, Overlapping toe, Tapered finger, ... |
OMIM:618975 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Renal dysplasia, Postaxial polydactyly, Tapered finger, Abnormality of the dentition, Small hand,... |
OMIM:300968 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Tricuspid regurgitation, Impulsivity, Aggressive behavior, Sinus bradycardia, Mitral regurgitation |
OMIM:261990 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P... |
ORPHA:1454 |
Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Anophthalmia, Single transverse palmar crea... |
OMIM:607932 |
Stromme Syndrome |
|
Jejunal atresia, Intestinal malrotation, Hypertelorism, Bilateral renal hypoplasia, Preaxial poly... |
OMIM:243605 |
Myhre Syndrome |
|
Abnormal penis morphology, Brachydactyly, Hypospadias, Narrow mouth, Epispadias, Submucous cleft ... |
ORPHA:2588 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Ataxia, EEG with spike-wave complexes, Aggressive behavior, Inability to walk, EEG... |
ORPHA:168491 |
Chromosome 17Q12 Deletion Syndrome |
|
Long toe, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infect... |
OMIM:614527 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Microphthalmia, Dolichocephaly |
OMIM:167730 |
Craniosynostosis 2 |
|
Frontal bossing, Turricephaly, Craniosynostosis, Unicoronal synostosis, Brachycephaly, Triphalang... |
OMIM:604757 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Dilated cardiomyopathy, Reduced systolic function |
OMIM:618805 |
Transketolase Deficiency |
|
Hepatomegaly, Increased level of ribose in urine, Renal cyst |
ORPHA:488618 |
Craniofrontonasal Syndrome |
|
Toe syndactyly, Broad hallux, Down-sloping shoulders, Hypospadias, Cleft upper lip, Abnormality o... |
OMIM:304110 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... |
ORPHA:85166 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Hepatic ... |
ORPHA:228308 |
Galloway-Mowat Syndrome 3 |
|
Frontal bossing, Arachnodactyly, Edema, Hip dislocation, Hypertension, Camptodactyly, Microphthal... |
OMIM:617729 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
15q26 overgrowth syndrome |
|
Long toe, Arachnodactyly, Camptodactyly of finger, Abnormality of the kidney, Tapered finger, Abn... |
DECIPHER:81 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Metaphyseal dysplasia, Short metacarpal, Metaphyseal chondrodysplasia, Renal cyst, Horseshoe kidn... |
OMIM:250410 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Atrial fibrillation, Bradycardia, Dysphagia |
OMIM:613327 |
9Q21.13 Microdeletion Syndrome |
|
Abnormal tongue morphology, Downturned corners of mouth, Hip dysplasia, Polydactyly, Hydronephrosis |
ORPHA:531151 |
Xylt1-Cdg |
|
Coxa valga, Flared metaphysis, Cleft palate, Short long bone, Proptosis, Thick vermilion border, ... |
ORPHA:370930 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity, Uplifted earlobe, Impulsivity |
OMIM:300143 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Bifid uvula, Submucous cleft hard palate, Camptodactyly of finger, Cleft palate |
ORPHA:2521 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Talipes eq... |
ORPHA:199302 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma, Enlarged kidney |
ORPHA:276280 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta |
ORPHA:64754 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom... |
OMIM:613873 |
Adams-Oliver Syndrome 2 |
|
Single transverse palmar crease, Absent distal phalanges, Short middle phalanx of finger, Microph... |
OMIM:614219 |
Distal Triplication 15Q |
|
Arachnodactyly, Abnormality of the kidney, Hypertelorism, Dilatation of the renal pelvis, Horsesh... |
ORPHA:314588 |
Familial Exudative Vitreoretinopathy |
|
Macular telangiectasia, Lymphedema, Macular edema, Vitreous hemorrhage, Retinal neovascularizatio... |
ORPHA:891 |
Hartsfield Syndrome |
|
Syndactyly, Median cleft lip, Hypospadias, Cleft upper lip, Hypertelorism, Cleft palate, Hypotelo... |
OMIM:615465 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Renal agenesis, Split hand, Hypopla... |
OMIM:200980 |
Kinsship Syndrome |
|
Thin upper lip vermilion, Single transverse palmar crease, Coxa valga, Hypertelorism, Thick lower... |
OMIM:619297 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Hypertelorism, Abnormal renal morphology, Cleft palate, ... |
ORPHA:83 |
Charcot-Marie-Tooth Disease Type 1F |
|
Restless legs, Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve condu... |
ORPHA:101085 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Unilateral renal agenesis, Cleft palate, Short distal phalanx of finger |
OMIM:601355 |
Arthrogryposis, Distal, Type 4 |
|
2-5 finger cutaneous syndactyly, Single transverse palmar crease, Cranial asymmetry, Camptodactyl... |
OMIM:609128 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Heart murmur, Pulmonic stenosis, Attention deficit hyperactivity disorder, Recurre... |
OMIM:617600 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Aminoaciduria, Abnormality of the dentition, Cleft upper lip |
OMIM:273400 |
Laurence-Moon Syndrome |
|
Micropenis, Polydactyly, Abnormality of the hand |
OMIM:245800 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, High, narrow palate, Clino... |
ORPHA:373 |
Myoclonic-Astatic Epilepsy |
|
EEG with polyspike wave complexes, Hyperactivity, EEG with focal spike waves, Ataxia, EEG with ir... |
ORPHA:1942 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Hip dislocation, Bilateral cleft lip and palate |
ORPHA:2003 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Selective tooth agenesis, Xerostomia, Oligodontia, Ureterocele, Vesicour... |
OMIM:129900 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Recurrent urinary tract infections, Hypospadias, Thick lower lip vermilion, Submucous cleft hard ... |
OMIM:619103 |
Immunodeficiency 96 |
|
Multicystic kidney dysplasia |
OMIM:619774 |
Robinow Syndrome |
|
Dental crowding, Orofacial cleft, Webbed penis, Micropenis, Syndactyly, Multicystic kidney dyspla... |
ORPHA:97360 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Frontal bossing, Mitral regurgitation, Postaxial polydactyly, Abnormally large globe |
OMIM:603387 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Overlapping toe, Single transverse palmar crease, Tapered finger, Short thumb, Ane... |
OMIM:619148 |
Proximal Spinal Muscular Atrophy |
|
Inability to walk, Facial diplegia, Bradycardia, Difficulty walking, Dysphagia |
ORPHA:70 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Abnormal metaphysis morphology, Intrauterine grow... |
ORPHA:290 |
Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Anophthalmia, Osteopathia striata, Short metatarsal, Foot oligodactyl... |
OMIM:305600 |
Holoprosencephaly |
|
Encephalocele, Frontal bossing, Anophthalmia, Flat occiput, Spinal dysraphism, Branchial anomaly,... |
ORPHA:2162 |
Tarp Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hy... |
ORPHA:2886 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal dysplasia, Renal malrotation, Bowing of the legs, Hypertelorism, Renal cyst, Macroglossia, ... |
OMIM:617107 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Congenital Disorder Of Glycosylation, Type Im |
|
Dilated cardiomyopathy, Bradycardia, Hypsarrhythmia |
OMIM:610768 |
Neuroleptic Malignant Syndrome |
|
Tachycardia, Pulmonary embolism, Hypertension, Agitation, Bradycardia, Hypotension, Dysphagia, Ab... |
ORPHA:94093 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Papilledema, Hypertrophic cardiomyopathy, Bradycardia |
OMIM:618775 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Arrhythmia, Bilateral single transverse palmar creases, Synostosis of carpal bones |
ORPHA:3191 |
Congenital Myopathy 22A, Classic |
|
Waddling gait, Tricuspid regurgitation, Bradycardia |
OMIM:620351 |
Baraitser-Winter Syndrome 2 |
|
Trigonocephaly, Microphthalmia |
OMIM:614583 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Bradycardia |
ORPHA:226313 |
Faciocardiorenal Syndrome |
|
Hypertelorism, Cleft palate, Horseshoe kidney, Hypodontia, Narrow mouth, Smooth philtrum |
ORPHA:1973 |
Hyperparathyroidism, Transient Neonatal |
|
Hyperparathyroidism, Unilateral renal agenesis, Ovarian cyst, Splenic cyst, Enlarged kidney |
OMIM:618188 |
Trisomy 18 |
|
Camptodactyly of finger, Abnormality of the upper urinary tract, Hypertelorism, Esophageal atresi... |
ORPHA:3380 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Abnormality of the hand, Bilateral microphthalmos, Brachycephaly, Plagiocephaly, Camp... |
ORPHA:369891 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Ataxia, Abnormal auditory evoked potentials, Abnormality of somatosensor... |
ORPHA:99027 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Hypertelorism, Abnormal thumb morphology, Metata... |
ORPHA:500095 |
Marshall Syndrome |
|
Radial bowing, Coxa valga, Hypoplastic ilia, Hypertelorism, Ulnar bowing, Irregular femoral epiph... |
OMIM:154780 |
2Q31.1 Microdeletion Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,... |
ORPHA:251014 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly, Hypertelorism |
OMIM:217095 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Selective tooth agenesis, Xerostomia, Anteriorly placed anus, Ureterocel... |
OMIM:604292 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Enlarged kidney |
ORPHA:79128 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Flat occiput, Optic nerve hypoplasia, Brachycephaly, Lambdoidal craniosynostosis, Spina bifida oc... |
OMIM:618736 |
Craniosynostosis 6 |
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Turricephaly, Craniosynostosis, Parietal foramina, Brachycephaly, Plagiocephaly, Right unilambdoi... |
OMIM:616602 |
Hyperparathyroidism-Jaw Tumor Syndrome |
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Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Primary hyp... |
ORPHA:99880 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
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Overlapping toe, Increased nuchal translucency, Hip dysplasia, Prominent fingertip pads, Overlapp... |
OMIM:618494 |
Andersen Cardiodysrhythmic Periodic Paralysis |
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Dental crowding, Short metatarsal, Oligodontia, High palate, Short palm, Clinodactyly of the 5th ... |
OMIM:170390 |
Larsen Syndrome |
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Short metacarpal, Spatulate thumbs, Cleft upper lip, Elbow dislocation, Hypertelorism, Dislocated... |
OMIM:150250 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
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Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Aplasia of the 1st metaca... |
ORPHA:1352 |
Maternal Uniparental Disomy Of Chromosome 6 |
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Slender long bone, Cleft palate, Cleft upper lip |
ORPHA:96181 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate |
ORPHA:2736 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
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Optic disc pallor, Sensorineural hearing impairment, Ataxia, Abnormal auditory evoked potentials |
OMIM:619260 |
Lymphedema-Distichiasis Syndrome |
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Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Cleft upper lip, Cleft palate, T... |
ORPHA:33001 |
3Q29 Microduplication Syndrome |
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Toe syndactyly, Sandal gap, Craniosynostosis, Aniridia, Biparietal narrowing, Camptodactyly of to... |
ORPHA:251038 |
Marden-Walker Syndrome |
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Epispadias, Bifid uvula, Abnormal penis morphology, Multicystic kidney dysplasia, Arachnodactyly,... |
ORPHA:2461 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
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Pulmonary arterial hypertension, Bradycardia |
OMIM:619272 |
Hypoglossia-Hypodactyly Syndrome |
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Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Adactyly, Sp... |
ORPHA:989 |
Congenital Fibrinogen Deficiency |
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Microphthalmia, Clubbing of fingers, Tachycardia, Internal hemorrhage |
ORPHA:335 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
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Cryptorchidism, Multicystic kidney dysplasia, Hydroureter, Megacystis |
ORPHA:2241 |
Pseudoaminopterin Syndrome |
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Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia... |
ORPHA:221120 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
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Tachycardia, Syncope, Premature ventricular contraction |
OMIM:192445 |
Distal Duplication 17Q |
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Hallux valgus, Thin upper lip vermilion, Rhizomelia, Overlapping toe, Arachnodactyly, Hypertelori... |
ORPHA:3379 |
Femoral-Facial Syndrome |
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Short fourth metatarsal, Limited elbow movement, Micropenis, Humeroradial synostosis, Smooth phil... |
OMIM:134780 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
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Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
1Q21.1 Microdeletion Syndrome |
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Frontal bossing, Broad hallux phalanx, Toe syndactyly, Short foot, Hand polydactyly, Talipes equi... |
ORPHA:250989 |
Parathyroid Carcinoma |
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Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Primary hyp... |
ORPHA:143 |
Oculodentodigital Dysplasia, Autosomal Recessive |
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Frontal bossing, Broad long bones, Fifth finger distal phalanx clinodactyly, 4-5 finger syndactyl... |
OMIM:257850 |
Focal Dermal Hypoplasia |
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Abnormal palmar dermatoglyphics, Finger syndactyly, Multicystic kidney dysplasia, Abnormal dental... |
ORPHA:2092 |
Crane-Heise Syndrome |
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Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, ... |
ORPHA:1512 |
Unilateral Ocular Duplication |
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Median cleft lip, Cleft palate, Hypertelorism |
ORPHA:3374 |
Congenital Sialidosis Type 2 |
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Hypoplasia of the fovea, Abnormal EKG, Edema, Telangiectasia, Polydactyly, Umbilical hernia, Ascites |
ORPHA:93400 |
Developmental And Epileptic Encephalopathy 103 |
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EEG with polyspike wave complexes, Hyperactivity, Ataxia, EEG with burst suppression, Hypsarrhyth... |
OMIM:619913 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
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Microphthalmia, Frontal bossing, Broad hallux, Single transverse palmar crease |
OMIM:614105 |
Pelvis-Shoulder Dysplasia |
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Syndactyly, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Mesomelic/rhizomel... |
ORPHA:2839 |
Joubert Syndrome 2 |
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Renal insufficiency, Hypertelorism, Postaxial hand polydactyly, Renal cyst, Postaxial foot polyda... |
OMIM:608091 |
Cranioectodermal Dysplasia 3 |
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Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Stage 5 ch... |
OMIM:614099 |
Hajdu-Cheney Syndrome |
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Hypospadias, Intestinal malrotation, Hypertelorism, Dental malocclusion, Osteolytic defects of th... |
OMIM:102500 |
Smith-Lemli-Opitz Syndrome |
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Hypoplasia of penis, Proximal placement of thumb, Advanced eruption of teeth, Finger syndactyly, ... |
ORPHA:818 |
Acro-Renal-Ocular Syndrome |
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Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... |
ORPHA:959 |
Anemia, Congenital Dyserythropoietic, Type Ii |
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Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
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Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Submucous cleft ... |
ORPHA:1071 |
Mosaic Variegated Aneuploidy Syndrome 1 |
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Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Hypertelorism, Cleft palate, Renal cys... |
OMIM:257300 |
Multiple Benign Circumferential Skin Creases On Limbs |
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Edema, Congestive heart failure, Upper limb asymmetry, Umbilical hernia, Microphthalmia |
ORPHA:2505 |
Graves Disease, Susceptibility To, 1 |
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Congestive heart failure, Hyperactivity, Polyphagia |
OMIM:275000 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
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Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, EEG with abnormally slow frequ... |
ORPHA:98794 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
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Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis |
OMIM:605479 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
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Cryptorchidism, Renal cyst, Horseshoe kidney |
ORPHA:166035 |
Distal Deletion 12Q |
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Single transverse palmar crease, Ectopic kidney, High, narrow palate, Aplasia/Hypoplasia of the m... |
ORPHA:96149 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
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Microphthalmia, Flat occiput, Lymphedema |
OMIM:152950 |
Basal Cell Nevus Syndrome 1 |
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Odontogenic keratocysts of the jaw, Down-sloping shoulders, Cleft upper lip, Palmar pits, Hyperte... |
OMIM:109400 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hepatomegaly, Proteinuria, Hepatocellular adenoma, Stage 5 chronic kidney disease, Polycystic ova... |
ORPHA:79259 |
Bartsocas-Papas Syndrome 1 |
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Ectopic kidney, Hypoplastic iliac wing, Micropenis, Short phalanx of finger, Syndactyly, Short me... |
OMIM:263650 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Parathyroid ... |
ORPHA:2237 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
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Aplasia/Hypoplasia of the optic nerve, Cranial asymmetry, Optic nerve hypoplasia, Pulmonic stenosis |
ORPHA:137634 |
Fetal Alcohol Syndrome |
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Thin upper lip vermilion, Non-midline cleft lip, Cleft palate, Microdontia, Smooth philtrum |
ORPHA:1915 |
Neu-Laxova Syndrome 1 |
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Finger syndactyly, Toe syndactyly, Renal agenesis, Rocker bottom foot, Micromelia, Swollen lip, C... |
OMIM:256520 |
Floating-Harbor Syndrome |
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Renal cyst, Nephrocalcinosis, Deeply set eye, Humeral pseudarthrosis, Oligodontia, Short philtrum... |
ORPHA:2044 |
Heart And Brain Malformation Syndrome |
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Camptodactyly of finger, Polyhydramnios, Prominent occiput, Hand clenching, Microphthalmia |
OMIM:616920 |
Frontometaphyseal Dysplasia |
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Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ... |
ORPHA:1826 |
Holzgreve Syndrome |
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Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Renal hypoplasia/aplasia, Cleft pa... |
ORPHA:2167 |
Joubert Syndrome 39 |
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Polycystic kidney dysplasia |
OMIM:619562 |
Frontonasal Dysplasia 2 |
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Encephalocele, Craniosynostosis, Parietal foramina, Brachycephaly, Anterior plagiocephaly, Microp... |
OMIM:613451 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
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Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Cardiomyopathy, Dilated, 1Y |
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Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Hydroxykynureninuria |
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Congenital sensorineural hearing impairment, Tachycardia, Abnormal repetitive mannerisms, Hypoten... |
ORPHA:79155 |
Muenke Syndrome |
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Tarsal synostosis, Brachycephaly, Plagiocephaly, Cone-shaped epiphysis, Short foot, Short palm, C... |
ORPHA:53271 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
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Microphthalmia |
OMIM:251270 |
Distal Deletion 15Q |
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Thin upper lip vermilion, Multicystic kidney dysplasia, Hypospadias, Single transverse palmar cre... |
ORPHA:1596 |
Martinez-Frias Syndrome |
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Hypoplasia of the gallbladder, Hypospadias, Extrahepatic biliary duct atresia, Annular pancreas, ... |
OMIM:601346 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Glutaric aciduria, Lacticaciduri... |
ORPHA:26791 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
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Microphthalmia |
ORPHA:1473 |
Pseudo-Torch Syndrome 2 |
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Bradycardia, Cerebral hemorrhage |
OMIM:617397 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
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Abnormal medullary pyramid morphology |
ORPHA:79243 |
Phelan-Mcdermid Syndrome |
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Abnormality of the kidney, Hypertelorism, Dental malocclusion, 2-3 toe syndactyly, Vesicoureteral... |
OMIM:606232 |
Microphthalmia, Syndromic 2 |
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Anophthalmia, Broad hallux, Sandal gap, 2-3 toe cutaneous syndactyly, Phthisis bulbi, 2-3 toe syn... |
OMIM:300166 |
Distal Renal Tubular Acidosis |
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Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
Retinitis Pigmentosa 51 |
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Polydactyly, Abnormality of the kidney |
OMIM:613464 |
Proximal 16P11.2 Microdeletion Syndrome |
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Multicystic kidney dysplasia, Hypertelorism, Pyloric stenosis, Cleft palate, Hand polydactyly |
ORPHA:261197 |
Holoprosencephaly 9 |
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Anophthalmia, Optic nerve hypoplasia, Postaxial hand polydactyly, Microphthalmia, Midface retrusion |
OMIM:610829 |
Microphthalmia, Syndromic 9 |
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Intrauterine growth retardation, Anophthalmia, Bilateral microphthalmos, Pulmonic stenosis |
OMIM:601186 |
Contractural Arachnodactyly, Congenital |
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Frontal bossing, Hip contracture, Bowing of the long bones, Arachnodactyly, Metatarsus adductus, ... |
OMIM:121050 |
Refsum Disease |
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Short metacarpal, Heart block, Cardiomyopathy, Hammertoe, Abnormal epiphysis morphology, Micropht... |
ORPHA:773 |
Robinow-Sorauf Syndrome |
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Hallux valgus, Broad hallux, Craniosynostosis, Plagiocephaly, Pansynostosis, Duplication of the d... |
OMIM:180750 |
Chromosome 17Q12 Duplication Syndrome |
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Microphthalmia, Broad thumb, Brachydactyly |
OMIM:614526 |
Wolf-Hirschhorn Syndrome |
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Hypoplastic pubic ramus, Arachnodactyly, Abnormality of the philtrum, Short hallux, Cleft upper l... |
ORPHA:280 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
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Tachycardia, Sensorineural hearing impairment |
OMIM:221400 |
Holoprosencephaly 3 |
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Cleft lip, Cleft palate, Hypotelorism, Hydronephrosis, Proptosis, Solitary median maxillary centr... |
OMIM:142945 |
H Syndrome |
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Abnormality of the kidney, Hepatosplenomegaly, Micropenis, Decreased testicular size, Enlarged ki... |
ORPHA:168569 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Natal tooth, Postaxial polydactyly, Hamartoma of tongue, Esophageal diverticulum, Cleft lip, Hype... |
OMIM:617925 |
Zellweger Syndrome |
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Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Jaundice, Hepatic failur... |
ORPHA:912 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
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Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... |
OMIM:617641 |
Necrotizing Enterocolitis |
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Shock, Bradycardia, Hypotension |
ORPHA:391673 |
Smith-Lemli-Opitz Syndrome |
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Dental crowding, Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Renal cys... |
OMIM:270400 |
Microphthalmia, Syndromic 3 |
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Frontal bossing, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Microphthalmia |
OMIM:206900 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
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Syndactyly, Hypospadias, Hypertelorism, Cleft lip, Vesicoureteral reflux, Renal cyst, Furrowed to... |
OMIM:616975 |
Liver Disease, Severe Congenital |
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Cardiomegaly, Biliary hyperplasia, Aminoaciduria, Elevated hepatic iron concentration, Pancreatic... |
OMIM:619991 |
Atelosteogenesis, Type I |
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Short metatarsal, Tibial bowing, Neonatal death, Short metacarpal, Radial bowing, Club-shaped pro... |
OMIM:108720 |
2P15P16.1 Microdeletion Syndrome |
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Multicystic kidney dysplasia, Sandal gap, Camptodactyly of finger, Tapered finger, Metatarsus add... |
ORPHA:261349 |
Frontofacionasal Dysplasia |
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Encephalocele, Microphthalmia, Brachycephaly, Midface retrusion |
ORPHA:1791 |
Neurooculocardiogenitourinary Syndrome |
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Microphthalmia, Tricuspid regurgitation, Abnormality of the palmar creases |
OMIM:618652 |
Yunis-Varon Syndrome |
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Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Polyhydramnios, Abn... |
ORPHA:3472 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
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Frontal bossing, Small hand, Short foot, Severe intrauterine growth retardation, Short palm, Micr... |
OMIM:241410 |
Peripartum Cardiomyopathy |
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Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... |
ORPHA:563 |
Warburg Micro Syndrome 2 |
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Overlapping toe, Brachycephaly, Microphthalmia, Clinodactyly of the 4th toe, Clinodactyly of the ... |
OMIM:614225 |
Robinow Syndrome, Autosomal Dominant 3 |
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Anteriorly placed anus, Downturned corners of mouth, Vesicoureteral reflux, Micropenis, Short pha... |
OMIM:616894 |
Osteopetrosis, Autosomal Recessive 8 |
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Frontal bossing, Unilateral microphthalmos |
OMIM:615085 |
Arthrogryposis And Ectodermal Dysplasia |
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Abnormal dental enamel morphology, Cleft upper lip, Orofacial cleft, Cleft palate, Oligodontia, C... |
OMIM:601701 |
Microphthalmia, Isolated, With Corectopia |
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Microphthalmia |
OMIM:156900 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Bradycardia |
OMIM:608800 |
Premature Aging Syndrome, Penttinen Type |
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Frontal bossing, Brachydactyly, Palmoplantar hyperkeratosis, Tibial bowing, Short foot, Slender l... |
OMIM:601812 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
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Frontal bossing, Single transverse palmar crease, 2-3 toe syndactyly, Joint contracture of the 5t... |
OMIM:620098 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
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Accessory oral frenulum, Postaxial polydactyly, Aplastic clavicle, Micromelia, Hamartoma of tongu... |
OMIM:616546 |
Mullegama-Klein-Martinez Syndrome |
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Thin upper lip vermilion, Cleft lip, Cleft palate, Submucous cleft of soft and hard palate, Propt... |
OMIM:301022 |
Van Den Ende-Gupta Syndrome |
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Glenoid fossa hypoplasia, Dental crowding, High, narrow palate, 2-3 toe cutaneous syndactyly, Fem... |
OMIM:600920 |
Cone-Rod Dystrophy 16 |
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Postaxial polydactyly |
OMIM:614500 |
Waardenburg Syndrome Type 1 |
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Tented upper lip vermilion, Aganglionic megacolon, Cleft palate, Cleft upper lip |
ORPHA:894 |
Popliteal Pterygium Syndrome |
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Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Cutaneous finger syndactyly, Ta... |
OMIM:119500 |
Moebius Syndrome |
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Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A... |
ORPHA:570 |
Achard Syndrome |
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Broad skull, Arachnodactyly, Brachycephaly |
OMIM:100700 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
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Clinodactyly of the 5th finger, Frontal bossing, Microphthalmia |
OMIM:617306 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
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Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Nance-Horan Syndrome |
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Microphthalmia, Short metacarpal |
ORPHA:627 |
Leukodystrophy, Hypomyelinating, 13 |
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Prolonged brainstem auditory evoked potentials, Optic atrophy, Ataxia |
OMIM:616881 |
Trisomy 10P |
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Thumb contracture, Abnormality of the kidney, Abnormality of the hand, Hypertelorism, Short toe, ... |
ORPHA:171929 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
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Syndactyly, Postaxial polydactyly, Polyhydramnios, Preaxial polydactyly, Femoral bowing, Short lo... |
OMIM:615503 |
Vertebral Hypersegmentation And Orofacial Anomalies |
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Scapular winging, Submucous cleft hard palate, Unilateral cleft lip, Unilateral cleft palate |
OMIM:619122 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Hepatomegaly, Biliary hyperplasia, Cryptorchidism, Cholelithiasis, Micropenis, Pancreatic hypopla... |
ORPHA:83617 |
Glycogen Storage Disease Vii |
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Hematuria, Cholelithiasis, Jaundice, Exercise-induced myoglobinuria |
OMIM:232800 |
Ritscher-Schinzel Syndrome 3 |
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Hypoplasia of the ulna, Ulnar bowing, Shortening of all distal phalanges of the fingers, Epiphyse... |
OMIM:619135 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Tented upper lip vermilion, Exaggerated cupid's bow, High, narrow palate, Upper limb undergrowth,... |
ORPHA:369837 |
Cerebrofaciothoracic Dysplasia |
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Hypertelorism, Cleft upper lip, Cleft palate, Wide mouth, Broad philtrum |
ORPHA:1394 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
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Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Hemoglobinuria, Cholelithiasis |
OMIM:194380 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
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Anophthalmia, Edema, Lymphedema, Chylothorax, Microphthalmia, Pleural effusion |
ORPHA:2526 |
Mucopolysaccharidosis, Type Iiib |
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Hyperactivity, Asymmetric septal hypertrophy, Hearing impairment, Aggressive behavior |
OMIM:252920 |
Miller-Dieker Lissencephaly Syndrome |
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Delayed eruption of teeth, Thin upper lip vermilion, Single transverse palmar crease, Cleft palat... |
OMIM:247200 |
Mckusick-Kaufman Syndrome |
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Syndactyly, Congenital hip dislocation, Aganglionic megacolon, Mesoaxial hand polydactyly, Hydrou... |
OMIM:236700 |
Coronary Arterial Fistula |
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Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
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Microphthalmia, Optic nerve hypoplasia |
OMIM:615181 |
Congenital Disorder Of Glycosylation, Type Iq |
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Microphthalmia, Brachycephaly |
OMIM:612379 |
Cockayne Syndrome Type 1 |
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Hypertension, Anophthalmia |
ORPHA:90321 |
Protoporphyria, Erythropoietic, X-Linked |
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Elevated hepatic transaminase, Cholelithiasis |
OMIM:300752 |
Autosomal Dominant Keratitis |
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Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
Lymphatic Malformation 7 |
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Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
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Sinus bradycardia |
OMIM:126320 |
Bardet-Biedl Syndrome 1 |
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Syndactyly, Dental crowding, Aganglionic megacolon, Postaxial polydactyly, Abnormality of the kid... |
OMIM:209900 |
Penile Agenesis |
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Urethral atresia, male, Hydroureter, Cryptorchidism, Fetal pyelectasis, Bilateral renal hypoplasi... |
ORPHA:49 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
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Frontal bossing, Camptodactyly of finger, Tapered finger, Brachycephaly, Microphthalmia, Broad th... |
ORPHA:1236 |
Fanconi Anemia, Complementation Group I |
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Optic nerve hypoplasia, Absent thumb, Short thumb, Hypoplasia of the radius, Microphthalmia, Shor... |
OMIM:609053 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
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Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Hypertension, Abnormal tem... |
ORPHA:449291 |
Cardiofacioneurodevelopmental Syndrome |
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Hypertelorism, Cleft lip, Cleft palate, Hypotelorism, Camptodactyly, Clinodactyly of the 5th fing... |
OMIM:619123 |
Sickle Cell Disease |
|
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hema... |
OMIM:603903 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
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Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Submucous ... |
OMIM:608670 |
Au-Kline Syndrome |
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Overlapping toe, Postaxial polydactyly, Coxa valga, Chronic kidney disease, Dental malocclusion, ... |
OMIM:616580 |
Helsmoortel-Van Der Aa Syndrome |
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High, narrow palate, Enuresis nocturna, Oligodontia, Widely spaced teeth, Short 4th toe, Advanced... |
OMIM:615873 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
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Hyperextensibility of the finger joints, Overlapping toe, Unilateral renal agenesis, Cleft upper ... |
OMIM:213980 |
Lujo Hemorrhagic Fever |
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Shock, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotension, Dysphagia |
ORPHA:319213 |
Khan-Khan-Katsanis Syndrome |
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Ureteral duplication, Tented upper lip vermilion, Postaxial polydactyly, Triangular mouth, Renal ... |
OMIM:618460 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
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Tachycardia, Retinal hemorrhage, Hypertension, Bradycardia, Low-set ears |
OMIM:614653 |
X-Linked Adrenoleukodystrophy |
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Hyperactivity, Aggressive behavior, Progressive hearing impairment, Disinhibition, Gait disturban... |
ORPHA:43 |
Fanconi Anemia, Complementation Group S |
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Microphthalmia, Clinodactyly, Proximal placement of thumb |
OMIM:617883 |
Congenital Disorder Of Glycosylation, Type Ia |
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Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Renal cyst, Nephrotic syndrome, Proxima... |
OMIM:212065 |
Adult Krabbe Disease |
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Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, EEG abnormality, Gait d... |
ORPHA:206448 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
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Microphthalmia, Abnormal palmar dermatoglyphics, Heart murmur, Intrauterine growth retardation |
ORPHA:2728 |
Vici Syndrome |
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Everted upper lip vermilion, Median cleft lip, Cleft upper lip, Hypertelorism, Cleft palate, Hypo... |
OMIM:242840 |
Rere-Related Neurodevelopmental Syndrome |
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Microphthalmia, Frontal bossing, Hip dysplasia, Intrauterine growth retardation |
ORPHA:494344 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Renal cyst, Narrow greater sciatic notch, Short palm, Exaggerated median tongue furrow, Hypospadi... |
OMIM:312870 |
Joubert Syndrome 23 |
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Polydactyly |
OMIM:616490 |
Retinitis Pigmentosa 89 |
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Esophageal varix, Postaxial polydactyly |
OMIM:618955 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl... |
OMIM:210710 |
Hallermann-Streiff Syndrome |
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Frontal bossing, Abnormality of the hand, Spina bifida, Metaphyseal widening, Scaphocephaly, Brac... |
OMIM:234100 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Nephrotic syndrome, Heavy pr... |
ORPHA:505248 |
Schinzel-Giedion Syndrome |
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Abnormality of the gingiva, Renal cyst, Tibial bowing, Anteriorly placed anus, Short philtrum, Hi... |
ORPHA:798 |
Melnick-Needles Syndrome |
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Tibial bowing, Ureteral stenosis, Hypertelorism, Cone-shaped epiphyses of the phalanges of the ha... |
OMIM:309350 |
Larsen Syndrome |
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Finger syndactyly, Hypertelorism, Accessory carpal bones, Cleft palate, Abnormal epiphysis morpho... |
ORPHA:503 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Ureteral duplication, Cardiomegaly, Cryptorchidism, Splenomegaly, Abnormal pancreas... |
ORPHA:116 |
Joubert Syndrome 1 |
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Protruding tongue, Postaxial hand polydactyly, Renal cyst, Postaxial foot polydactyly, Macrogloss... |
OMIM:213300 |
Galloway-Mowat Syndrome 1 |
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Flat occiput, Slender finger, Hypoplasia of the iris, Talipes equinovarus, Camptodactyly, Hand cl... |
OMIM:251300 |
Alg9-Cdg |
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Hepatomegaly, Hypoplasia of the bladder, Ureteral hypoplasia, Periportal fibrosis, Hypoplasia of ... |
ORPHA:79328 |
Beta-Thalassemia Intermedia |
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Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenom... |
ORPHA:231222 |
Dyrk1A-Related Intellectual Disability Syndrome |
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Hallux valgus, Toe syndactyly, Arachnodactyly, Hypospadias, Unilateral renal agenesis, Pyloric st... |
ORPHA:464306 |
C Syndrome |
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Multicystic kidney dysplasia, Toe syndactyly, Micromelia, Accessory oral frenulum, Renal hypoplas... |
ORPHA:1308 |
Crimean-Congo Hemorrhagic Fever |
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Bundle branch block, Anorexia, Abnormal left ventricular function, Internal hemorrhage, Hemoperit... |
ORPHA:99827 |
Isolated Thyroid-Stimulating Hormone Deficiency |
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Bradycardia, Attention deficit hyperactivity disorder |
ORPHA:90674 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
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Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Postaxial hand polydactyly, Sup... |
OMIM:617088 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
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Brachydactyly, Sandal gap, Broad hallux, Microphthalmia, Clinodactyly, 3-4 toe syndactyly |
OMIM:618727 |
Nasopalpebral Lipoma-Coloboma Syndrome |
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Clinodactyly of the 5th finger, Microphthalmia, Bilateral microphthalmos, Dolichocephaly |
ORPHA:2399 |
Anterior Segment Dysgenesis 5 |
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Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Peters-Plus Syndrome |
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Ureteral duplication, Short lingual frenulum, Single transverse palmar crease, Limited elbow move... |
OMIM:261540 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
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Microphthalmia |
OMIM:601794 |
Attenuated Familial Adenomatous Polyposis |
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Multiple renal cysts |
ORPHA:220460 |
Treacher-Collins Syndrome |
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Hypoplasia of penis, Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper l... |
ORPHA:861 |
Alpha-Thalassemia |
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Hypersplenism, Splenomegaly, Jaundice, Cholelithiasis |
ORPHA:846 |
Roberts-Sc Phocomelia Syndrome |
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Tetraphocomelia, High palate, Shallow orbits, Phocomelia, Wrist flexion contracture, Syndactyly, ... |
OMIM:268300 |
Cohen Syndrome |
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Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Narrow palm, Slender toe, Genu val... |
ORPHA:193 |
Wolf-Hirschhorn Syndrome |
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Single transverse palmar crease, Orofacial cleft, Downturned corners of mouth, Short philtrum, Ps... |
OMIM:194190 |
Gallbladder Disease 4 |
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Cholelithiasis |
OMIM:611465 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
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Microphthalmia |
ORPHA:363741 |
Fraser Syndrome 1 |
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Encephalocele, Aplasia/Hypoplasia of the thumb, Anophthalmia, Myelomeningocele, Aplasia/Hypoplasi... |
OMIM:219000 |
Marden-Walker Syndrome |
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Arachnodactyly, Radioulnar synostosis, Talipes equinovarus, Camptodactyly, Microphthalmia, Joint ... |
OMIM:248700 |
Fanconi Anemia, Complementation Group F |
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Polyhydramnios, Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Micro... |
OMIM:603467 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
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Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... |
OMIM:211600 |
Jacobsen Syndrome |
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Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Multicystic kidney dysplasia, Intestinal... |
ORPHA:2308 |
Holoprosencephaly-Craniosynostosis Syndrome |
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Brachydactyly, Craniosynostosis, Coxa valga, Brachycephaly, Plagiocephaly, Clinodactyly of the 5t... |
ORPHA:2163 |
Myhre Syndrome |
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Overlapping toe, Pericardial effusion, Short toe, 2-3 toe syndactyly, Cone-shaped epiphysis, Hype... |
OMIM:139210 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Hypoplasia of penis, Micromelia, Cleft upper lip, Urethrovaginal fistula, Preaxial hand polydacty... |
ORPHA:93271 |
Fanconi Anemia, Complementation Group R |
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Microphthalmia, Radial dysplasia, Absent thumb |
OMIM:617244 |
Chime Syndrome |
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Abnormal dental morphology, Abnormality of the kidney, Aplastic clavicle, Abnormality of the dent... |
ORPHA:3474 |
Diamond-Blackfan Anemia 1 |
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Absent thumb, Hypoplastic ilia, Short thumb, Partial duplication of thumb phalanx, Hypoplasia of ... |
OMIM:105650 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
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Renal dysplasia, Decreased response to growth hormone stimulation test, Renal cyst |
OMIM:617260 |
Oculocerebrorenal Syndrome Of Lowe |
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Dental crowding, Deep philtrum, Gingivitis, Oligosacchariduria, Nephrocalcinosis, Deeply set eye,... |
ORPHA:534 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
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High palate, Deep philtrum, Tented upper lip vermilion, Polydactyly |
ORPHA:314655 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
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Pigment gallstones, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis |
OMIM:613470 |
Lymphedema-Distichiasis Syndrome |
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Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Chylothorax, Micropht... |
OMIM:153400 |
Tuberous Sclerosis 1 |
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Renal angiomyolipoma, Adenoma sebaceum, Renal cell carcinoma, Renal cyst |
OMIM:191100 |
Thoracoabdominal Syndrome |
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Hypospadias, Renal agenesis, Cleft palate, Cleft upper lip |
OMIM:313850 |
Holoprosencephaly 7 |
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Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Hypertelorism, Cleft palate, Hypot... |
OMIM:610828 |
Oculogastrointestinal Neurodevelopmental Syndrome |
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Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
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Microphthalmia, Frontal bossing, Overlapping toe, Dolichocephaly |
OMIM:618571 |
Tuberous Sclerosis 2 |
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Absence of renal corticomedullary differentiation, Renal cyst, Renal cell carcinoma, Adenoma seba... |
OMIM:613254 |
Heterotaxy, Visceral, 1, X-Linked |
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Hepatomegaly, Renal agenesis, Cardiomegaly, Asplenia, Biliary atresia, Horseshoe kidney, Abdomina... |
OMIM:306955 |
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome |
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Enlarged interphalangeal joints, Proximal placement of thumb, Abnormality of the epiphysis of the... |
ORPHA:2988 |
Congenital Disorder Of Glycosylation, Type Iil |
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Postaxial polydactyly, Unilateral renal agenesis, Esophageal varix, Hip dysplasia, Inflammation o... |
OMIM:614576 |
Frontorhiny |
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Encephalocele, Camptodactyly of finger, Finger clinodactyly, Basal encephalocele, Cranium bifidum... |
ORPHA:391474 |
Neuromuscular Oculoauditory Syndrome |
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Reduced renal corticomedullary differentiation, Multiple renal cysts |
OMIM:618733 |
Epidermal Nevus Syndrome |
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Polycystic kidney dysplasia |
ORPHA:35125 |
Lacrimoauriculodentodigital Syndrome 1 |
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Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co... |
OMIM:149730 |
Sepsis In Premature Infants |
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Tachycardia, Bradycardia, Hypotension |
ORPHA:90051 |
Deafness, X-Linked 7 |
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Unilateral microphthalmos |
OMIM:301018 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
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Tachycardia, Pulsatile tinnitus, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Urethral stricture, Duplicated collecting system, Erosion of oral mucosa, Multicystic kidney dysp... |
ORPHA:79404 |
Peters Plus Syndrome |
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Ureteral duplication, Micromelia, Widely spaced teeth, Clinodactyly of the 5th finger, Renal dupl... |
ORPHA:709 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
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Finger syndactyly, Overlapping toe, Single transverse palmar crease, Deviation of the 2nd finger,... |
ORPHA:464738 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
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Frontal bossing, Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Brach... |
OMIM:207410 |
Trichothiodystrophy 3, Photosensitive |
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Trigonocephaly, Microphthalmia, Intrauterine growth retardation |
OMIM:616395 |
Microphthalmia With Linear Skin Defects Syndrome |
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Tricuspid regurgitation, Anophthalmia, Dilated cardiomyopathy, Mitral regurgitation, Arrhythmia, ... |
ORPHA:2556 |
Meacham Syndrome |
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Accessory spleen, Enlarged kidney, Horseshoe kidney |
OMIM:608978 |
Warburg Micro Syndrome 3 |
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Clinodactyly of the 5th finger, Microphthalmia, Brachycephaly |
OMIM:614222 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
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Ureteral duplication, Intestinal malrotation, Hypertelorism, Cleft palate, Rectovaginal fistula, ... |
OMIM:270420 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
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Microphthalmia |
OMIM:123570 |
Vitreoretinochoroidopathy |
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Microphthalmia, Vitreous hemorrhage, Retinal neovascularization |
OMIM:193220 |
Histidinemia |
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Hyperactivity |
ORPHA:2157 |
Microphthalmia-Brain Atrophy Syndrome |
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Bilateral microphthalmos |
ORPHA:77299 |
Mend Syndrome |
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Broad hallux, Overlapping toe, Long fingers, 2-3 toe syndactyly, Hand polydactyly, Microphthalmia... |
ORPHA:401973 |
Tetrasomy 9P |
|
Dental crowding, Downturned corners of mouth, Deeply set eye, High palate, Short philtrum, Clinod... |
ORPHA:3310 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
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Microphthalmia |
OMIM:613153 |
Nijmegen Breakage Syndrome |
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Anal stenosis, Recurrent urinary tract infections, Sandal gap, Cleft upper lip, Deep philtrum, 2-... |
OMIM:251260 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... |
ORPHA:206436 |
Tetraamelia-Multiple Malformations Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia |
ORPHA:3301 |
Fraser Syndrome |
|
Finger syndactyly, Anal stenosis, Toe syndactyly, Dental crowding, Hypoplasia of penis, Multicyst... |
ORPHA:2052 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... |
OMIM:602522 |
Nance-Horan Syndrome |
|
Microphthalmia, Short phalanx of finger, Broad finger |
OMIM:302350 |
Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Pituitary adenoma, Chronic kidney disease, Parath... |
ORPHA:805 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Renal cyst |
OMIM:617478 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2250 |
Townes-Brocks Syndrome 1 |
|
Short metatarsal, Triphalangeal thumb, Vesicoureteral reflux, 2-4 finger syndactyly, Multicystic ... |
OMIM:107480 |
Stickler Syndrome |
|
Arachnodactyly, Protrusio acetabuli, Abnormal dental enamel morphology, Cleft upper lip, Open bit... |
ORPHA:828 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Sheehan Syndrome |
|
Palpitations, Orthostatic hypotension, Bradycardia, Sensorineural hearing impairment |
ORPHA:91355 |
Hajdu-Cheney Syndrome |
|
Bowing of the long bones, Coarse metaphyseal trabecularization, Brachydactyly, Intestinal malrota... |
ORPHA:955 |
Linear Nevus Sebaceus Syndrome |
|
Frontal bossing, Prominent occiput, Plagiocephaly, Biparietal narrowing, Microphthalmia |
ORPHA:2612 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Unilateral renal agenesis, Tapered finger, Short toe, Renal cyst, Short foot, Deeply... |
ORPHA:464311 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Frontal bossing, Neonatal epiphyseal stippling, Hip dislocation, Upper limb asymmetry, Epiphyseal... |
ORPHA:35173 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Aganglionic megacolon, Ataxia, Athetosis, Self-mutilation |
ORPHA:52503 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Hypoplasia of penis, Micromelia, Aplasia of the ulna, Hi... |
ORPHA:2879 |
Cleidocranial Dysplasia 2 |
|
Down-sloping shoulders, Aplastic clavicle, Coxa valga, Genu valgum, Plagiocephaly, Delayed ossifi... |
OMIM:620099 |
Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Clinodactyly of the 5th finger, Trigonocephal... |
ORPHA:1587 |
Charge Syndrome |
|
Anophthalmia, Polyhydramnios, Abnormal tibia morphology, Bifid femur, Clinodactyly of the 5th fin... |
ORPHA:138 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Single transverse palmar crease, High, narrow palate, Deeply set eye, High palat... |
OMIM:180849 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Aggressive behavior, Decreased ne... |
ORPHA:909 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Edema of the dorsum of hands, Brachycephaly, Femoral bowing, Abnorma... |
OMIM:274000 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Microphthalmia, Occipital encephalocele, Optic nerve hypoplasia, Cardiomyopathy |
ORPHA:370959 |
Hemimegalencephaly |
|
Cranial asymmetry |
ORPHA:99802 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Intrauterine growth retardation, Postaxial polydactyly, Oligohydramnios |
OMIM:615824 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
Mend Syndrome |
|
Broad hallux, Overlapping toe, Long fingers, 2-3 toe syndactyly, Polydactyly, Macular hypoplasia,... |
OMIM:300960 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia, Long fingers, Brachycephaly |
OMIM:156610 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Tented upper lip vermilion, Rocker bottom foot, Single transverse palmar crease, Postaxial polyda... |
OMIM:617527 |
Warburg Micro Syndrome 4 |
|
Microphthalmia, Brachycephaly |
OMIM:615663 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Enlarged kidney |
OMIM:252500 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys |
OMIM:620047 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology |
ORPHA:438274 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Encephalitis Lethargica |
|
Bradycardia |
ORPHA:83600 |
Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:85194 |
Pearson Syndrome |
|
Hypoparathyroidism, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Pancreatic ... |
ORPHA:699 |
Charge Syndrome |
|
Hypoplasia of the ulna, Anophthalmia, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Po... |
OMIM:214800 |
Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Decreased liver function, Cirrhosis |
ORPHA:79278 |
Adnp Syndrome |
|
Thin upper lip vermilion, Recurrent urinary tract infections, Broad hallux, Single transverse pal... |
ORPHA:404448 |
Atelis Syndrome 2 |
|
Frontal bossing, Single transverse palmar crease, Supravalvar pulmonary stenosis, Vitreous hemorr... |
OMIM:620185 |
Weill-Marchesani Syndrome 1 |
|
Broad skull, Microspherophakia, Broad palm, Brachycephaly, Mitral regurgitation, Pulmonic stenosi... |
OMIM:277600 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Self-biting |
OMIM:618314 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Syndromic Diarrhea |
|
Hepatomegaly, Splenomegaly, Renal hypoplasia, Abnormality of the liver, Hypoplasia of the thymus,... |
ORPHA:84064 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Ataxia, Short-segment aganglionic meg... |
OMIM:609136 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged kidney |
ORPHA:508 |
Marburg Hemorrhagic Fever |
|
Shock, Tachycardia, Pericarditis, Anorexia, Aggressive behavior, Hypovolemia, Capillary leak, Sub... |
ORPHA:99826 |
Carpenter Syndrome 2 |
|
Single transverse palmar crease, High, narrow palate, Preaxial polydactyly, Coxa vara, Cutaneous ... |
OMIM:614976 |
Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Orofacial cleft, Abnormality of ... |
ORPHA:1556 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Mic... |
OMIM:300952 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia, Retinal neovascularization |
OMIM:305390 |
Momo Syndrome |
|
Frontal bossing, Bilateral microphthalmos, Brachycephaly, Femoral bowing, Large hands, Short ster... |
ORPHA:2563 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Broad skull, Congestive heart failure, Microspherophakia, Short metatarsal, Bra... |
OMIM:608328 |
Ogden Syndrome |
|
Global glomerulosclerosis, Cardiomegaly, Cryptorchidism, Jaundice, Microvesicular hepatic steatos... |
OMIM:300855 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation |
OMIM:617914 |
Chand Syndrome |
|
Short fifth metatarsal, Hydroureter, Hypertelorism, Cleft palate, Agenesis of permanent teeth, Ab... |
ORPHA:1401 |
Degcags Syndrome |
|
Bilateral renal hypoplasia, Hypotelorism, High palate, Syndactyly, Hypospadias, Hiatus hernia, Hy... |
OMIM:619488 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia |
OMIM:615636 |
Okamoto Syndrome |
|
Ureteropelvic junction obstruction, Exaggerated median tongue furrow, Anal stenosis, Tented upper... |
ORPHA:2729 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Hypsarrhythmia, Sinus bradycardia |
OMIM:618397 |
Incontinentia Pigmenti |
|
Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Abnormal hand morphology,... |
ORPHA:464 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Cholelithiasis, Renal tubular dysfunction, Hepatic failure |
OMIM:614886 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Jaundice, Cholelithiasis, Cholecystitis |
OMIM:235700 |
Hydrolethalus Syndrome 1 |
|
Median cleft lip, Hypospadias, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication... |
OMIM:236680 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Triphalangeal thumb, Vesicoureteral ... |
ORPHA:857 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Abnormality of the ureter, ... |
OMIM:175200 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Brachydactyly, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the... |
ORPHA:364577 |
Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Cleft palate, Glossoptosis, Clinodactyly of the 5th finger, Short h... |
ORPHA:1393 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Short thumb, Preaxial... |
OMIM:113620 |
Microphthalmia, Lenz Type |
|
Finger syndactyly, Camptodactyly of finger, Abnormal shoulder morphology, Clinodactyly of the 5th... |
ORPHA:568 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Cholangiocarcinoma, Renal ins... |
ORPHA:171 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Broad hallux, Overlapping toe, Abnormality of the hand, Optic nerve hypopla... |
ORPHA:508498 |
Fanconi Anemia |
|
Abnormal femur morphology, Triphalangeal thumb, Clinodactyly of the 5th finger, Finger syndactyly... |
ORPHA:84 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Chronic active hepatitis, Asplenia, Nephrocalcinosis, Cholelithiasis |
OMIM:240300 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Postaxi... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Postaxi... |
ORPHA:352665 |
Rabson-Mendenhall Syndrome |
|
Dental crowding, Abnormality of the dentition, Long penis, Gingival overgrowth, Furrowed tongue, ... |
ORPHA:769 |
Pallister-Hall Syndrome |
|
Ectopic kidney, Micropenis, Bifid uvula, Mesoaxial polydactyly, Radial bowing, Hypospadias, Acces... |
ORPHA:672 |
Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Edema, Retinal hemorrhage, Hypoplasia of the iris... |
OMIM:609049 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Bradycardia |
ORPHA:90673 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Micromelia, Proximal placement of thumb, Downturned corners of mouth, Widely... |
ORPHA:199 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Unilateral cryptorchidism, Cryptorchidism, Hepatopulmonary fusion, Enlarged kid... |
OMIM:618280 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Short humerus, Short metacarpal, Narrow mouth, Humeroradial synostosis... |
ORPHA:3404 |
Bohring-Opitz Syndrome |
|
Low-set, posteriorly rotated ears, Inability to walk, Optic atrophy, Bradycardia |
ORPHA:97297 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Pulmonary arterial hypertension, Microphthalmia, Single transverse palmar crease, 2-3 toe syndactyly |
OMIM:616449 |
3-Methylglutaconic Aciduria, Type Viii |
|
Sensorineural hearing impairment, Bradycardia, Dysphagia |
OMIM:617248 |
Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Submucous cleft hard palate, Cleft palate, Solitary median maxillary central in... |
OMIM:301043 |
Mycophenolate Mofetil Embryopathy |
|
Microphthalmia, Foot polydactyly, Hydrops fetalis, Short palm |
ORPHA:268249 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Abnormally large globe |
OMIM:615249 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Toe syndactyly, Hypertension, Pulmonary arterial hypertension, Talipes equinovarus... |
OMIM:100300 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Frontal bossing, Polyhydramnios, Increased nuchal translucency, Abnormality... |
ORPHA:1052 |
Hyperthyroidism, Nonautoimmune |
|
Hyperactivity, Tachycardia |
OMIM:609152 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Palmar pits, Narrow mouth, Orofaci... |
ORPHA:77301 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Frontal bossing, Optic nerve hypoplasia, Microphthalmia, Adducted thumb |
OMIM:614643 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... |
ORPHA:1329 |
Proboscis Lateralis |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Proboscis |
ORPHA:141099 |
3Q29 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Microphthalmia, Pulmonary arterial hypertension, Tapered finger |
ORPHA:65286 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... |
ORPHA:892 |
Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Frontal bossing, Craniosynostosis, Tapered finger, Portal hypertension, Scaphocephaly, Small hand... |
OMIM:620005 |
Microphthalmia, Syndromic 1 |
|
Dental crowding, Abnormal palmar dermatoglyphics, High, narrow palate, Rectal prolapse, Orofacial... |
OMIM:309800 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Postaxial polydactyly, Hypertelorism, Unilateral renal agenesis, Hip dysplasia, Cli... |
ORPHA:457284 |
8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Microphthalmia, Absen... |
ORPHA:284160 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hepatic failure |
OMIM:177000 |
Beta-Thalassemia |
|
Splenomegaly, Hepatomegaly, Cholelithiasis, Hepatitis |
ORPHA:848 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Short metatarsal, Tibial bowing, Femoral bowing, Short metacarpal, Ra... |
OMIM:304120 |
Tetraamelia Syndrome 1 |
|
Renal agenesis, Cleft upper lip, Cleft palate, Urethral atresia, Hypoplastic pelvis, Anal atresia |
OMIM:273395 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Jacobsen Syndrome |
|
Flat occiput, Macular hypoplasia, Clinodactyly of the 5th finger, Trigonocephaly, Microphthalmia,... |
OMIM:147791 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis |
OMIM:266200 |
Hallermann-Streiff Syndrome |
|
Frontal bossing, Congestive heart failure, Small hand, Brachycephaly, Short foot, Clinodactyly of... |
ORPHA:2108 |
Ohdo Syndrome, X-Linked |
|
Ulnar deviation of the hand, Overlapping toe, Short thumb, Hip dysplasia, Microphthalmia, Long th... |
OMIM:300895 |
Aicardi Syndrome |
|
Intestinal polyposis, Cleft upper lip, Hiatus hernia, Malabsorption, Small hand, Cleft palate, Hi... |
ORPHA:50 |
Oculo-Palato-Cerebral Syndrome |
|
Short foot, Microphthalmia, Small hand, Intrauterine growth retardation |
ORPHA:2714 |
Vater/Vacterl Association |
|
Renal dysplasia, Syndactyly, Hypospadias, Renal agenesis, Ectopic kidney, Absent radius, Short th... |
OMIM:192350 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Camptodactyly, Microphthalmia, Absent palmar crease |
OMIM:614230 |
Cockayne Syndrome A |
|
Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Decreased nerve conductio... |
OMIM:216400 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Impulsivity, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia |
OMIM:610217 |
Rothmund-Thomson Syndrome, Type 2 |
|
Frontal bossing, Congenital hip dislocation, Short thumb, Small hand, Telangiectasia, Short foot,... |
OMIM:268400 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Congenital hip dislocation, Abnormal periodontium morphology, High palate, Tapered finger, Cyst o... |
ORPHA:480880 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Recurrent urinary tract infections, Hypospadias, Cleft soft palate, Unilateral ren... |
ORPHA:268261 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, High palate, Vesicoureteral reflux, Syndactyly, Broad hallux, Hypospadias, Abnor... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, High palate, Vesicoureteral reflux, Syndactyly, Broad hallux, Hypospadias, Abnor... |
ORPHA:353277 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Finger clinodactyly, Pectoral muscle hypoplasia/aplasia, Cranium bifidum... |
ORPHA:306542 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Abnormality of the kidney, Pyloric ste... |
ORPHA:1606 |
Spherocytosis, Type 1 |
|
Splenomegaly, Jaundice, Cholelithiasis |
OMIM:182900 |
Chromosome 13Q14 Deletion Syndrome |
|
Frontal bossing, Overlapping toe, Single transverse palmar crease, Hip dislocation, Umbilical her... |
OMIM:613884 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Hypospadias, Camptodactyly of finger, Cleft upper lip, Metatarsus adductus, Hypertelorism, Ectopi... |
OMIM:607872 |
Hereditary Hemorrhagic Telangiectasia |
|
Portal hypertension, Nephrolithiasis, Hematuria, Cholecystitis, Cirrhosis, Cholelithiasis, Hepati... |
ORPHA:774 |
Glycogen Storage Disease Xii |
|
Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransferase concentration... |
OMIM:611881 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Macroglossia, Cleft palate, Cleft upper lip |
OMIM:613150 |
Orofaciodigital Syndrome Xiv |
|
Natal tooth, Broad hallux, Hamartoma of tongue, Cleft lip, Postaxial hand polydactyly, Supernumer... |
OMIM:615948 |
Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
Cockayne Syndrome B |
|
Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Decreased nerve conductio... |
OMIM:133540 |
Monosomy 9P |
|
Proximal placement of thumb, Abnormality of the tarsal bones, Postaxial hand polydactyly, Brachyc... |
ORPHA:261112 |
Craniosynostosis And Dental Anomalies |
|
Hallux valgus, Frontal bossing, Turricephaly, Flat occiput, Broad hallux, Sagittal craniosynostos... |
OMIM:614188 |
Choanal Atresia |
|
Polydactyly, Craniosynostosis |
ORPHA:137914 |
Fanconi Anemia, Complementation Group E |
|
Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx |
OMIM:600901 |
22Q11.2 Deletion Syndrome |
|
Arachnodactyly, Abnormal dental enamel morphology, Aganglionic megacolon, Intestinal malrotation,... |
ORPHA:567 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Exocrine pancreatic insufficiency |
ORPHA:309108 |
Frontofacionasal Dysplasia |
|
Brachycephaly, Cranium bifidum occultum, Microphthalmia, Midface retrusion, Hypoplasia of the fro... |
OMIM:229400 |
Fanconi Anemia, Complementation Group C |
|
Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx, ... |
OMIM:227645 |
Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Phocomelia, Mi... |
OMIM:184705 |
Oculopalatocerebral Syndrome |
|
Microphthalmia |
OMIM:257910 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Dental crowding, Urinary incontinence, Cleft hard palate, Calcaneovalgus deformity, Deeply set ey... |
ORPHA:261537 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Abnormal ductus choledochus morphology, Hypoplasia of the thymus, Hepatitis, Peritoneal abscess |
ORPHA:436252 |
Persistent Hyperplastic Primary Vitreous |
|
Phthisis bulbi, Buphthalmos, Macular hypoplasia, Microphthalmia, Hemorrhage of the eye |
ORPHA:91495 |
Pagod Syndrome |
|
Abnormality of the spleen, Multicystic kidney dysplasia, Abnormal testis morphology, Renal hypopl... |
ORPHA:991 |
Retinitis Pigmentosa 74 |
|
Abnormal renal morphology, Polydactyly |
OMIM:616562 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Tented upper lip vermilion, Single transverse palmar crease, Renal cy... |
OMIM:601803 |
Fanconi Anemia, Complementation Group A |
|
Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx |
OMIM:227650 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Short femur, Hypospadias, Orofacial cleft, Methylmalonic aciduria, 3-Methylglutaco... |
ORPHA:17 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Aortic regurgitation, Frontal bossing, Turricephaly, Mesoaxial foot polydactyly, Overlapping toe,... |
OMIM:612474 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Hyphema |
OMIM:221900 |
8P Inverted Duplication/Deletion Syndrome |
|
Cryptorchidism, Abnormality of the urinary system, Aplasia/Hypoplasia of the gallbladder, Micrope... |
ORPHA:96092 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma |
ORPHA:538 |
Holoprosencephaly 14 |
|
Cleft lip, Cyclopia, Median cleft lip, Cleft palate |
OMIM:619895 |
Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia |
OMIM:120200 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Polyhydramnios, Postaxial hand polydactyly, Umbilical hernia, Microphthalmia |
ORPHA:2166 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Anal atresia, Renal dysplasia, Cleft palate, Cleft upper lip |
OMIM:236670 |
Mowat-Wilson Syndrome |
|
Dental crowding, Urinary incontinence, Cleft hard palate, Calcaneovalgus deformity, Deeply set ey... |
ORPHA:2152 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Brachycephaly, Patellar hypoplasia, Spina bifida occulta, Hypoplasia of t... |
OMIM:218600 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Optic nerve hypoplasia, Sensorineural hearing impairment, Bradycardia |
ORPHA:226307 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Broad hallux, Single transverse palmar crease, Polyhydramnios, Pulmonary arterial... |
OMIM:620186 |
Proteus Syndrome |
|
Hallux valgus, Finger syndactyly, Macrodactyly, Abnormal dental enamel morphology, Metatarsus val... |
ORPHA:744 |
Bardet-Biedl Syndrome 20 |
|
Proteinuria, Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Preaxial foot... |
OMIM:619471 |
Faciocardiomelic Syndrome |
|
Dental malocclusion, Wide mouth, Slender long bone, Polydactyly, Hypoplastic pelvis, Long philtrum |
OMIM:612731 |
Fanconi Anemia, Complementation Group D2 |
|
Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Partial duplication of thumb... |
OMIM:227646 |
Fontaine Progeroid Syndrome |
|
Syndactyly, Turricephaly, Tricuspid regurgitation, Craniosynostosis, Brachycephaly, Oligohydramni... |
OMIM:612289 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary insufficiency, Abnormal pinna morphology, Bradycardia, Low-set ears |
OMIM:614437 |
Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia, Corneal neovascularization, Telangiectasia |
OMIM:278730 |
Yellow Fever |
|
Shock, Supraventricular arrhythmia, Hematemesis, Capillary leak, Reduced left ventricular ejectio... |
ORPHA:99829 |
Micro Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:2510 |
Distal Duplication 5Q |
|
Cryptorchidism, Hypospadias, Aplasia/Hypoplasia of the gallbladder |
ORPHA:96097 |
Neurocardiofaciodigital Syndrome |
|
Syndactyly, Thin vermilion border, High palate, Polydactyly, Vesicoureteral reflux |
OMIM:619869 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia |
OMIM:616538 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Microphthalmia, Dilated cardiomyopathy, Pulmonic stenosis |
OMIM:253800 |
Kapur-Toriello Syndrome |
|
Microphthalmia |
ORPHA:2328 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Cholestatic liver disease, Cholelithiasis |
ORPHA:79095 |
Williams Syndrome |
|
Hypoplasia of penis, Rectal prolapse, Abnormal tubulointerstitial morphology, Nephrocalcinosis, C... |
ORPHA:904 |
Fraser Syndrome 2 |
|
Microphthalmia, Oligohydramnios, Cutaneous syndactyly |
OMIM:617666 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy |
ORPHA:79330 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Biliary atresia, Cholestasis, Acholic stools, Annular pancreas, Pancreatic hy... |
OMIM:615710 |
Sialuria |
|
Elevated hepatic transaminase, Hepatomegaly, Cholelithiasis, Hepatosplenomegaly |
ORPHA:3166 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Sinus bradycardia, Difficulty walking, Dysphagia |
OMIM:619482 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
Alobar Holoprosencephaly |
|
Median cleft lip, Hip dislocation, Cleft palate, Hypotelorism, High palate, Solitary median maxil... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Median cleft lip, Hip dislocation, Cleft palate, Hypotelorism, High palate, Solitary median maxil... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Median cleft lip, Hip dislocation, Cleft palate, Hypotelorism, High palate, Solitary median maxil... |
ORPHA:93924 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia |
OMIM:234050 |
Semilobar Holoprosencephaly |
|
Median cleft lip, Hip dislocation, Cleft palate, Hypotelorism, High palate, Solitary median maxil... |
ORPHA:220386 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Dental crowding, Urinary incontinence, Cleft hard palate, Calcaneovalgus deformity, Deeply set ey... |
ORPHA:261552 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Cryptorchidism, Micropenis, Cholelithiasis, Decreased testicular size |
OMIM:300534 |
Witteveen-Kolk Syndrome |
|
Frontal bossing, Branchial fistula, Toe syndactyly, Overlapping toe, Arachnodactyly, Proximal pla... |
OMIM:613406 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
Metachromatic Leukodystrophy |
|
Abnormal gallbladder morphology, Urinary incontinence, Hemobilia, Neoplasm of the gallbladder |
ORPHA:512 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Cryptorchidism, Hypospadias, Renal cyst |
ORPHA:495875 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydronephrosis, Micropenis, Multicystic kidney dysplasia, Decreased testicular size |
OMIM:615287 |
Fanconi Anemia, Complementation Group L |
|
Absent thumb, Absent radius, Bilateral talipes equinovarus, Microphthalmia, Intrauterine growth r... |
OMIM:614083 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Deep philtrum, Non-midline cleft lip, Cleft palate, Pollakisuria, Anal atresia |
ORPHA:647 |
Loeys-Dietz Syndrome 2 |
|
Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Eosinophilic infiltration... |
OMIM:610168 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Unilateral microphthalmos, Adducted thumb |
OMIM:618874 |
Aicardi Syndrome |
|
Hiatus hernia, Cleft palate, Proximal placement of thumb, Cleft upper lip |
OMIM:304050 |
Dubowitz Syndrome |
|
Syndactyly, Single transverse palmar crease, Hypoplasia of the iris, Clinodactyly of the 5th fing... |
OMIM:223370 |
Cat Eye Syndrome |
|
Absent radius, Microphthalmia, Umbilical hernia, Pulmonic stenosis |
OMIM:115470 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Broad hallux, Arachnodactyly, Cubitus valgus, Short finger, Microphthalmia |
OMIM:601552 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Abnormal toe morphology, Abnormal finger morphology, Cranial asymmetry |
OMIM:163200 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Anal stenosis, Congenital hip dislocation, Multicysti... |
OMIM:606170 |
Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia, Telangiectasia |
OMIM:601675 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:613001 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Bradycardia |
OMIM:218700 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Finger c... |
ORPHA:508488 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... |
ORPHA:97278 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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2-5 finger syndactyly, Camptodactyly of finger, Craniosynostosis, Abnormal occipital bone morphol... |
ORPHA:468631 |
Kenny-Caffey Syndrome, Type 2 |
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Microphthalmia, Thickened cortex of long bones, Abnormality of the medullary cavity of the long b... |
OMIM:127000 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Single transverse palmar crease, Junctional ectopic tachycardia, Histiocytoid cardiomyopathy, Mic... |
OMIM:309801 |
Neuroocular Syndrome |
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Hypoplasia of the fovea, Hyperextensibility of the finger joints, Scapular winging, Tapered finge... |
OMIM:619539 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
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Tapered finger, Long fingers, 2-3 toe syndactyly, Short palm, Clinodactyly of the 5th finger, Mic... |
OMIM:616734 |
Porphyria, Congenital Erythropoietic |
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Hepatomegaly, Splenomegaly, Jaundice, Red urine, Cholelithiasis, Pink urine |
OMIM:263700 |
Trisomy 8P |
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Cryptorchidism, Fetal pyelectasis, Micropenis, Nephrocalcinosis, Aplasia/Hypoplasia of the gallbl... |
ORPHA:264450 |
Oculoauricular Syndrome |
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Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta |
OMIM:612109 |
Trichothiodystrophy |
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Craniosynostosis, Bilateral microphthalmos, Clubbing, Cardiomyopathy, Umbilical hernia, Intrauter... |
ORPHA:33364 |
Cimdag Syndrome |
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Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly |
OMIM:619273 |
Xeroderma Pigmentosum, Complementation Group B |
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Microphthalmia |
OMIM:610651 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Multicystic kidney dysplasia, Aganglionic megacolon, Hypospadias, Unilateral renal agenesis, Rena... |
OMIM:308205 |
Grfoma |
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Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... |
ORPHA:97261 |
Legius Syndrome |
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Nephrolithiasis, Diaphyseal dysplasia, Polydactyly, Male urethral meatus stenosis, Clinodactyly o... |
ORPHA:137605 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Stenosis of the medullary cavity of the long bones, Bilateral microphthalmos, Cortical thickening... |
ORPHA:93325 |
Incontinentia Pigmenti |
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Hypoplasia of the fovea, Microphthalmia, Retinal hemorrhage |
OMIM:308300 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
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Microphthalmia |
OMIM:110100 |
Phace Association |
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Microphthalmia, Optic nerve hypoplasia |
OMIM:606519 |
Triosephosphate Isomerase Deficiency |
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Splenomegaly, Jaundice, Cholecystitis, Prolonged neonatal jaundice, Cholelithiasis |
OMIM:615512 |
Craniofacial Microsomia 1 |
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Occipital encephalocele, Anophthalmia, Partial duplication of thumb phalanx, Genu valgum, Branchi... |
OMIM:164210 |
Renpenning Syndrome 1 |
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Brachycephaly, Camptodactyly, Clinodactyly of the 5th finger, Synostosis of the proximal phalanx ... |
OMIM:309500 |
Hereditary Spherocytosis |
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Splenomegaly, Hepatomegaly, Jaundice, Cholelithiasis |
ORPHA:822 |
Hereditary Elliptocytosis |
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Splenomegaly, Jaundice, Cholelithiasis, Prolonged neonatal jaundice |
ORPHA:288 |
Bosma Arhinia Microphthalmia Syndrome |
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Microphthalmia, Midface retrusion |
OMIM:603457 |
Osteoporosis-Pseudoglioma Syndrome |
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Microphthalmia, Metaphyseal widening, Phthisis bulbi, Tibial bowing |
OMIM:259770 |
Holoprosencephaly 1 |
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Microphthalmia, Midface retrusion, Proboscis |
OMIM:236100 |
Cockayne Syndrome Type 3 |
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Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Increased blood pressure, Microphthalmia |
ORPHA:90324 |
Dehydrated Hereditary Stomatocytosis |
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Portal vein thrombosis, Cholelithiasis, Splenomegaly, Intermittent jaundice |
ORPHA:3202 |
Generalized Pseudohypoaldosteronism Type 1 |
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Cholelithiasis |
ORPHA:171876 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Ureteral duplication, Biliary atresia, Pancreatic aplasia, Aplasia/Hypoplasia of the gallbladder,... |
ORPHA:2255 |
Isolated Arrhinia |
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Microphthalmia |
ORPHA:1134 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
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Cyst of the ductus choledochus |
OMIM:619480 |
Trichohepatoneurodevelopmental Syndrome |
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Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Decreased liver function, Hypoplastic nipples... |
OMIM:618268 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Buphthalmos, Microphthalmia, Hypoplasia of the retina, Midface retrusion |
OMIM:253280 |
Cockayne Syndrome |
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Retinal hemorrhage, Hypertension, Abnormal epiphysis morphology, Microphthalmia, Thickened calvaria |
ORPHA:191 |
Lowe Oculocerebrorenal Syndrome |
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Camptodactyly of finger, Wrist swelling, Hip dislocation, Genu valgum, Finger swelling, Microphth... |
OMIM:309000 |
Digeorge Syndrome |
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Renal dysplasia, Renal insufficiency, Parathyroid agenesis, Unilateral renal agenesis, Splenomega... |
OMIM:188400 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Septo-optic dysplasia, Optic nerve hypoplasia, Polydactyly, Hypotension, Abnormal digit morphology |
ORPHA:95494 |
Phace Syndrome |
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Microphthalmia, Lens coloboma, Optic nerve hypoplasia |
ORPHA:42775 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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Hepatomegaly, Cholelithiasis, Cholecystitis, Hepatosplenomegaly |
OMIM:301066 |
Wiedemann-Rautenstrauch Syndrome |
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Long toe, Frontal bossing, Short humerus, Short femur, Optic disc hypoplasia, Camptodactyly of fi... |
ORPHA:3455 |
Holoprosencephaly 2 |
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Microphthalmia, Midface retrusion, Proboscis |
OMIM:157170 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Cerebral hemorrhage, Retinal hemorrhage, Hypoplasia of the iris, Ischemic stroke, Microphthalmia,... |
OMIM:175780 |
Cerebrotendinous Xanthomatosis |
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Cholelithiasis |
OMIM:213700 |
Pmm2-Cdg |
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Thin upper lip vermilion, Proteinuria, Hypertelorism, Long fingers, Wide mouth, Nephrotic syndrom... |
ORPHA:79318 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
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Hepatomegaly, Hypersplenism, Splenomegaly, Neoplasm of the liver, Decreased liver function, Cirrh... |
ORPHA:77293 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Splenomegaly, Abnormality of the spleen, Hepatosplenomegaly, Hepatic fibrosis, Cholelithiasis |
ORPHA:2072 |
Neurofibroma |
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Enlargement of parotid gland, Abnormal biliary tract morphology |
ORPHA:252183 |
Norrie Disease |
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Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:649 |
Steinert Myotonic Dystrophy |
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Elevated hepatic transaminase, Decreased response to growth hormone stimulation test, Ovarian car... |
ORPHA:273 |
Mowat-Wilson Syndrome |
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Microphthalmia, Pulmonic stenosis |
OMIM:235730 |
Treacher Collins Syndrome 1 |
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Bilateral microphthalmos |
OMIM:154500 |