RCAD (renal cysts and diabetes) |
|
Multiple renal cysts, Abnormality of the liver |
DECIPHER:47 |
Nephronophthisis 19 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Cholestasis, Bile duct proliferation... |
OMIM:616217 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:613824 |
Polycystic Kidney Disease 5 |
|
Hepatosplenomegaly, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney,... |
OMIM:617610 |
Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Polycystic Kidney Disease 7 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insufficiency, Multiple renal ... |
OMIM:620056 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Cystic renal... |
OMIM:601331 |
Infundibulopelvic Dysgenesis |
|
Microscopic hematuria, Multicystic kidney dysplasia |
OMIM:600989 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
Meckel Syndrome, Type 3 |
|
Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Multicystic kidney dysplasia, Malformati... |
OMIM:607361 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Nephronophthisis 20 |
|
Stage 5 chronic kidney disease, Renal cyst, Renal insufficiency, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Syndactyly Type 2 |
|
Postaxial foot polydactyly, Camptodactyly of finger, 3-4 finger syndactyly, Mesoaxial polydactyly... |
ORPHA:93403 |
Nephronophthisis 7 |
|
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:611498 |
Hepatorenocardiac Degenerative Fibrosis |
|
Hepatosplenomegaly, Renal interstitial fibrosis, Hepatocellular carcinoma, Jaundice, Enlarged kid... |
OMIM:619902 |
Holzgreve Syndrome |
|
Hand polydactyly, Cleft palate, Cleft upper lip, Renal agenesis, Renal hypoplasia |
OMIM:236110 |
Senior-Loken Syndrome 5 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:609254 |
Sclerosing Cholangitis, Neonatal |
|
Ductal bile plugs, Jaundice, Cholestasis, Hepatic bridging fibrosis, Bile duct proliferation, Hep... |
OMIM:617394 |
Hanac Syndrome |
|
Renal insufficiency, Multiple renal cysts, Hematuria |
ORPHA:73229 |
Nephronophthisis 12 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:613820 |
Gombo Syndrome |
|
Clinodactyly, Brachydactyly, Microphthalmia, Radial deviation of finger |
OMIM:233270 |
Meckel Syndrome, Type 5 |
|
Bile duct proliferation, Renal cyst |
OMIM:611561 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst |
OMIM:615987 |
Nephronophthisis 16 |
|
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Cholestasis, Renal ... |
OMIM:615382 |
Deafness, Autosomal Recessive 104 |
|
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:616515 |
Renal Hypodysplasia/Aplasia 3 |
|
Hydronephrosis, Horseshoe kidney, Renal dysplasia, Vesicoureteral reflux, Multicystic kidney dysp... |
OMIM:617805 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypopl... |
OMIM:618270 |
Thomas Syndrome |
|
Renal hypoplasia/aplasia, Cleft palate, Multicystic kidney dysplasia, Cleft upper lip, Hypertelorism |
ORPHA:3316 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Polydactyly, Abnormal hip bone morphology, Syndactyly, Cleft palate, Stillbirth, Upper limb phoco... |
ORPHA:294975 |
Disorganization, Mouse, Homolog Of |
|
Hand polydactyly, Hip dislocation, Cleft palate, Limb duplication, Cleft upper lip |
OMIM:223200 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Hydronephrosis, Abnormal renal physiology, Tubulointerstitial... |
ORPHA:93109 |
Nephronophthisis 2 |
|
Renal cortical microcysts, Chronic tubulointerstitial nephritis, Absence of renal corticomedullar... |
OMIM:602088 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal liver parenchyma morphology, Renal dysplasia, Abnormal biliary tract morphology, Abnorma... |
ORPHA:3032 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Polycystic kidney dysplasia, Enlarged kidney, Asplenia, Cholestasis, Hepatomegaly, Polysplenia, H... |
OMIM:208540 |
Gallbladder Disease 1 |
|
Cholangitis, Jaundice, Cholestasis, Pancreatitis, Bile duct proliferation, Hepatic fibrosis, Elev... |
OMIM:600803 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multinodular goiter, Multicystic kidney dysplasia |
ORPHA:2091 |
Biliary Atresia, Extrahepatic |
|
Jaundice, Extrahepatic biliary duct atresia, Bile duct proliferation, Atretic gallbladder, Hepato... |
OMIM:210500 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617874 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Multiple Synostoses Syndrome 3 |
|
Metatarsal synostosis, Hallux varus, Cleft palate, Broad thumb, Proptosis, Cubitus valgus, Humero... |
OMIM:612961 |
Split hand/foot malformation 1 (SHFM1) |
|
Cleft palate, Toe syndactyly, 2-3 toe syndactyly, Median cleft lip, Cutaneous finger syndactyly, ... |
DECIPHER:46 |
Meckel Syndrome, Type 7 |
|
Hepatosplenomegaly, Multiple glomerular cysts, Stage 5 chronic kidney disease, Cholestasis, Bile ... |
OMIM:267010 |
Orofacial Cleft 11 |
|
Cleft palate, Cleft lip |
OMIM:600625 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Renal interstitial fibrosis, Proteinuria, Hepatic cysts, Stage 5 chron... |
OMIM:614377 |
Familial Median Cleft Of The Upper And Lower Lips |
|
Diastema, Irregular dentition, Median cleft lip, Cleft upper lip, Fusion of gums, Cleft lower lip |
ORPHA:401942 |
Meckel Syndrome, Type 6 |
|
Renal cyst, Horseshoe kidney, Bile duct proliferation, Hepatic fibrosis, Absent gallbladder, Cyst... |
OMIM:612284 |
Senior-Loken Syndrome 7 |
|
Nephronophthisis |
OMIM:613615 |
Syndactyly, Type Iv |
|
Polydactyly, Postaxial polydactyly, 1-5 finger complete cutaneous syndactyly, Supernumerary metac... |
OMIM:186200 |
Charlie M Syndrome |
|
Tooth agenesis, Finger syndactyly, Abnormal metacarpal morphology, Brachydactyly, Narrow mouth, N... |
ORPHA:1406 |
Meckel Syndrome, Type 2 |
|
Bile duct proliferation, Renal cyst |
OMIM:603194 |
Medullary cystic kidney disease 2 |
|
Enuresis, Renal tubular atrophy, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Re... |
OMIM:603860 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Short distal phalanx of finger, Tapered finger, Cleft palate, Glossoptosis, Pierre-Robin sequence... |
OMIM:311895 |
Synpolydactyly 1 |
|
Postaxial foot polydactyly, 2nd-5th toe middle phalangeal hypoplasia, 3-4 finger syndactyly, Y-sh... |
OMIM:186000 |
Immunodeficiency, Common Variable, 6 |
|
Hydronephrosis, Glomerulonephritis, Stage 5 chronic kidney disease, Enlarged kidney, Macroscopic ... |
OMIM:613496 |
Orofacial Cleft 10 |
|
Unilateral cleft lip, Unilateral cleft palate |
OMIM:613705 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis, High palate, Proximal radial head dislocation, Proximal placement of thumb, Solit... |
OMIM:602418 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Orofacial Cleft 1 |
|
Cleft upper lip, Cleft palate |
OMIM:119530 |
Orofacial Cleft 5 |
|
Cleft upper lip, Cleft palate |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft upper lip, Cleft palate |
OMIM:608864 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft upper lip, Cleft palate |
OMIM:106250 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Non-midline cleft lip, Tooth agenesis, Cleft palate |
ORPHA:1074 |
Nephronophthisis 18 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Cholestasis,... |
OMIM:615862 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Jaundice, Intrahepatic cholestasis, Portal inflammation, Bile duct proliferation, Hepatomegaly, E... |
OMIM:602347 |
Joubert Syndrome 6 |
|
Stage 5 chronic kidney disease, Bile duct proliferation, Hepatic fibrosis, 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 |
|
Large hands, Cleft upper lip, Orofacial cleft, Preaxial hand polydactyly |
ORPHA:85287 |
Bardet-Biedl Syndrome 7 |
|
Polydactyly, Postaxial polydactyly, Deeply set eye, Narrow mouth, 2-3 toe syndactyly, Clinodactyl... |
OMIM:615984 |
Meckel Syndrome, Type 4 |
|
Bile duct proliferation, Renal cyst |
OMIM:611134 |
Juberg-Hayward Syndrome |
|
Limited elbow extension, Anteriorly placed anus, Horseshoe kidney, Abnormal toe morphology, Aplas... |
OMIM:216100 |
Keratoconus Posticus Circumscriptus |
|
Recurrent urinary tract infections, Cleft palate, Brachydactyly, Clinodactyly of the 5th finger, ... |
OMIM:244600 |
Congenital Radioulnar Synostosis |
|
Congenital hip dislocation, Limited pronation/supination of forearm, Polydactyly, Dislocated radi... |
ORPHA:3269 |
Cleft Lip With Or Without Cleft Palate |
|
Median cleft lip and palate, Median cleft lip, Non-midline cleft lip, Non-midline cleft palate, S... |
ORPHA:1991 |
Nephronophthisis 3 |
|
Enuresis, Renal tubular atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Renal corti... |
OMIM:604387 |
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 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Ductal bile plugs, Jaundice, Elevated circulating aspartate aminotransferase concentration, Intra... |
OMIM:613812 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Gly... |
OMIM:614817 |
Bardet-Biedl Syndrome 4 |
|
Abnormality of the dentition, Abnormality of the kidney, Polydactyly, Renal cyst, Syndactyly, Bra... |
OMIM:615982 |
Bardet-Biedl Syndrome 16 |
|
Stage 5 chronic kidney disease, Renal cyst, Renal insufficiency, Renal dysplasia, Renal agenesis |
OMIM:615993 |
Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
Orofaciodigital Syndrome Viii |
|
High palate, Polydactyly, Short tibia, Syndactyly, Cleft palate, Median cleft lip, Hypertelorism |
OMIM:300484 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hepatosplenomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration, Chol... |
ORPHA:79302 |
Coach Syndrome 3 |
|
Renal interstitial fibrosis, Renal tubular atrophy, Stage 5 chronic kidney disease, Renal insuffi... |
OMIM:619113 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Absence of renal corticomedullary differentiation, Polycystic kidney dysplasia, Hyperechogenic ki... |
OMIM:263200 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Edema, Intrauterine growth retardation, Rocker bottom foot, Microphthalmia, Talipes equinovarus |
OMIM:616570 |
Intellectual Disability, Wolff Type |
|
Short distal phalanx of finger, Camptodactyly of finger, Abnormal intestine morphology, Clinodact... |
ORPHA:3080 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Polycystic kidney dysplasia, Renal cortical cysts, Jaundice, Glycosuria, Hepatomegaly, Glutaric a... |
OMIM:231680 |
Orofaciodigital Syndrome Xviii |
|
Short distal phalanx of finger, Diastema, Cleft lip, Preaxial polydactyly, Postaxial polydactyly,... |
OMIM:617927 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Jaundice, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Elevated ci... |
OMIM:619662 |
Rhyns Syndrome |
|
Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis, Abnormality of the liver |
ORPHA:140976 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Abnormal distal phalanx morphology of finger, Abnormal hip bone morphology, Cleft palate, Clinoda... |
ORPHA:2725 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Hand oligodactyly, Cleft palate |
OMIM:172880 |
Orofaciodigital Syndrome Type 5 |
|
Bifid uvula, Supernumerary tooth, Bifid tongue, Abnormality of the philtrum, Postaxial foot polyd... |
ORPHA:2919 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Polydactyly, Occipital encephalocele, Microphthalmia, Pericardial effusion, Talipe... |
OMIM:613885 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Postaxial polydactyly |
OMIM:613094 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome |
|
Non-midline cleft lip, Hypertelorism |
ORPHA:2007 |
Isolated Polycystic Liver Disease |
|
Polycystic liver disease, Multiple renal cysts, Hepatomegaly, Abnormality of the pancreas |
ORPHA:2924 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity |
OMIM:601382 |
Nephronophthisis 4 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophth... |
OMIM:606966 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Ataxia, Difficulty walking, Abnormal motor evoked potentials, Abnormal auditory evoked potentials... |
ORPHA:320401 |
Isolated Biliary Atresia |
|
Hypopituitarism, Jaundice, Cholestasis, Bile duct proliferation, Atretic gallbladder, Hepatomegal... |
ORPHA:30391 |
Microphthalmia With Limb Anomalies |
|
Foot oligodactyly, Postaxial foot polydactyly, 2-3 toe cutaneous syndactyly, Hip dislocation, Met... |
OMIM:206920 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Phenobarbital Embryopathy |
|
Unilateral cleft lip, Aplasia/Hypoplasia of fingers, Hypospadias, Hypertelorism, Brachydactyly |
ORPHA:1919 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Enlarged kidney |
OMIM:615285 |
Indomethacin Embryofetopathy |
|
Abnormal renal tubule morphology, Renal insufficiency, Multicystic kidney dysplasia, Nephropathy |
ORPHA:1909 |
Ocular Motor Apraxia |
|
Nephronophthisis |
OMIM:257550 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Hepatic cysts, Decreased liver function |
OMIM:600666 |
Camptosynpolydactyly, Complex |
|
Camptodactyly, Syndactyly, Polydactyly, Cutaneous syndactyly |
OMIM:607539 |
Renal Tubular Dysgenesis |
|
Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis |
ORPHA:3033 |
Nephronophthisis 15 |
|
Elevated hepatic transaminase, Nephronophthisis |
OMIM:614845 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Decreased glomerular filtration rate... |
OMIM:618061 |
Mmep Syndrome |
|
Median cleft lip, Triphalangeal thumb, Orofacial cleft, Split foot |
ORPHA:3434 |
Glycogen Storage Disease Ixc |
|
Bile duct proliferation, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Splenomegaly, In... |
OMIM:613027 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomeruloscleros... |
OMIM:616002 |
Nephronophthisis 1 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Tubular basement membrane disintegration, ... |
OMIM:256100 |
Bardet-Biedl Syndrome 11 |
|
Abnormality of the kidney, Polydactyly |
OMIM:615988 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect, Anophthalmia, Microphthalmia |
OMIM:600776 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Polycystic liver disease, Proteinuria, Jaundice, Chronic kidney disease, Renal cyst, Renal insuff... |
OMIM:208500 |
Acrorenal Syndrome |
|
Abnormal renal morphology, Renal insufficiency, Renal hypoplasia/aplasia, Cleft palate, Abnormal ... |
ORPHA:971 |
Aa Amyloidosis |
|
Proteinuria, Acute kidney injury, Abnormality of the kidney, Chronic kidney disease, Enlarged kid... |
ORPHA:85445 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Beta 2-microglobulinuria, Reduced renal corticomedullary differentiation, Renal cort... |
OMIM:611555 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Polycystic kidney dysplasia, Renal cortical adenoma, Parathyroid carcinoma, Recurrent pancreatiti... |
OMIM:145001 |
Say Syndrome |
|
Proximal renal tubular acidosis, Ulnar deviation of the 3rd finger, Short distal phalanx of finge... |
OMIM:181180 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Jaundice, Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Portal hypertensi... |
OMIM:607626 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity, Continuous spike and waves ... |
OMIM:301008 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials, Ataxia |
ORPHA:99852 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormality of the dentition, Abnormal metacarpal morphology, Cleft palate, Glossoptosis, Abnorma... |
ORPHA:3104 |
Axial Osteomalacia |
|
Polycystic liver disease, Renal cyst |
OMIM:109130 |
Joubert Syndrome 16 |
|
Nephronophthisis, Renal cyst |
OMIM:614465 |
Orofacial Cleft 14 |
|
Median cleft lip |
OMIM:615892 |
Bardet-Biedl Syndrome 14 |
|
Renal insufficiency, Polydactyly |
OMIM:615991 |
Split-Hand/Foot Malformation 1 |
|
Foot oligodactyly, Ectrodactyly, Syndactyly, Cleft palate, Broad hallux, Clinodactyly, Triphalang... |
OMIM:183600 |
Arthrogryposis, Distal, Type 1C |
|
Pursed lips, High palate, Camptodactyly of finger, Camptodactyly of toe, Bifid uvula, Cleft lip, ... |
OMIM:619110 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie... |
ORPHA:90301 |
Van Der Woude Syndrome 1 |
|
Bifid uvula, Cleft palate, Hypodontia, Cleft upper lip, Lower lip pit |
OMIM:119300 |
Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, 3-4 finger syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalange... |
OMIM:174700 |
Sprengel Deformity |
|
Abnormality of the shoulder girdle musculature, Shoulder muscle hypoplasia, Abnormal shoulder mor... |
ORPHA:3181 |
Santos Syndrome |
|
Oligodactyly, Polydactyly, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Metatarsus ad... |
OMIM:613005 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Joubert Syndrome 4 |
|
Abnormal renal medulla morphology, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney ... |
OMIM:609583 |
Facial Clefting, Oblique, 1 |
|
Cleft upper lip, Deep palmar crease, Cleft palate |
OMIM:600251 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Cyclopia, Radial club hand, Renal insufficiency, Abnormal morphology of the radius, Cleft palate,... |
ORPHA:2165 |
Senior-Loken Syndrome |
|
Congenital hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Chronic kidney dis... |
ORPHA:3156 |
Mpdu1-Cdg |
|
Renal cortical cysts, Decreased response to growth hormone stimulation test |
ORPHA:79323 |
Renal Dysplasia |
|
Enlarged kidney, Abnormal renal calyx morphology, Hydroureter, Abnormal nephron morphology, Multi... |
ORPHA:93108 |
Carpenter Syndrome |
|
Craniosynostosis, Cloverleaf skull, Polydactyly, Oxycephaly, Turricephaly, Umbilical hernia, Fing... |
ORPHA:65759 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Slender finger, Hypotelorism, Downturned corners of mouth, Smooth philtrum, Short philtrum, Cleft... |
OMIM:613192 |
Orofaciodigital Syndrome Xvii |
|
Clinodactyly, Micropenis, Polydactyly, Central Y-shaped metacarpal, High, narrow palate, Clubbing... |
OMIM:617926 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Micropenis, Polydactyly, Brachydactyly |
OMIM:615983 |
Orofaciodigital Syndrome Iv |
|
Short finger, Clinodactyly, High palate, Hand polydactyly, Postaxial polydactyly, Short tibia, Fo... |
OMIM:258860 |
Nephronophthisis-Like Nephropathy 1 |
|
Chronic pancreatitis, Renal tubular atrophy, Tubular basement membrane disintegration, Stage 5 ch... |
OMIM:613159 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Polycystic kidney dysplasia, Renal angiomyolipoma |
OMIM:600273 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Enlarged kidney, Cholestasis, Hepatic fibrosis, Hepatomegaly, Cystic renal dysplasia, H... |
OMIM:615415 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Abnormal calvaria morphology, Microphthalmia |
ORPHA:2432 |
Fibular Hemimelia |
|
Oligodactyly, Short tibia, Toe syndactyly, Short toe, Fibular aplasia, Abnormal morphology of uln... |
ORPHA:93323 |
Adams-Oliver Syndrome 4 |
|
Umbilical hernia, Microphthalmia, Aplasia of the middle phalanx of the 4th toe, Short toe, Absent... |
OMIM:615297 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Short distal phalanx of finger, Short thumb, Overlapping fingers, Overlapping toe, Hallux varus, ... |
OMIM:618167 |
Alagille Syndrome 2 |
|
Proteinuria, Cholestatic liver disease, Renal cyst, Cholestasis, Renal insufficiency, Hematuria, ... |
OMIM:610205 |
Optic Atrophy 8 |
|
Prolonged somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potentials, Se... |
OMIM:616648 |
Autosomal Dominant Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Chronic kidney disease, Abnor... |
ORPHA:730 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft upper lip, Hematuria, Cleft palate |
OMIM:120433 |
Nephronophthisis 11 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Tubular basement membrane disintegration, ... |
OMIM:613550 |
Senior-Loken Syndrome 4 |
|
Polyuria, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:606996 |
Congenital Disorder Of Glycosylation, Type If |
|
Renal cortical cysts |
OMIM:609180 |
Mohr Syndrome |
|
Partial duplication of the phalanges of the hallux, Cleft palate, Preaxial foot polydactyly, Meta... |
OMIM:252100 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Enlarged kidney, Cleft palate, Bifid tongue, Cleft upper lip, Cone-s... |
OMIM:613091 |
Microphthalmia, Syndromic 16 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
Coach Syndrome 1 |
|
Stage 5 chronic kidney disease, Renal cyst, Unilateral renal agenesis, Hepatomegaly, Nephronophth... |
OMIM:216360 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Finger joint hypermobility, Micropenis, Unilateral renal agenesis, Cleft palate, Hypotelorism, Cl... |
OMIM:244200 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Small thenar eminence, Ectopic kidney, Cleft palate, Narrow mouth, Short 5th finger, 2-3 toe synd... |
OMIM:239800 |
Senior-Loken Syndrome 3 |
|
Enuresis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Polyuria |
OMIM:606995 |
Meckel Syndrome, Type 10 |
|
Postaxial foot polydactyly, Camptodactyly, Micropenis, Bifid uvula, Renal cyst, Postaxial polydac... |
OMIM:614175 |
Hardikar Syndrome |
|
Cholestasis, Hydroureter, Hepatomegaly, Prolonged neonatal jaundice, Decreased liver function, In... |
OMIM:301068 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Hepatosplenomegaly, Stage 5 chronic kidney disease, ... |
ORPHA:84081 |
Genitopalatocardiac Syndrome |
|
Cleft palate, Hypospadias, Cleft upper lip, Renal cyst |
OMIM:231060 |
Cleft Lip-Retinopathy Syndrome |
|
Non-midline cleft lip |
ORPHA:1995 |
Campomelia, Cumming Type |
|
Polycystic liver disease, Polycystic kidney dysplasia, Pancreatic cysts, Polysplenia |
OMIM:211890 |
Joubert Syndrome 18 |
|
Camptodactyly, Renal cyst, Horseshoe kidney, Postaxial polydactyly, Trident pelvis, Cleft palate,... |
OMIM:614815 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, High palate, Short distal phalanx of finger, Agenesis of permanent t... |
OMIM:614091 |
Oculocerebrocutaneous Syndrome |
|
Congenital hip dislocation, Anophthalmia, Microphthalmia, Orbital encephalocele |
OMIM:164180 |
Anencephaly 2 |
|
Anophthalmia, Anencephaly |
OMIM:619452 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft upper lip, Absent radius, Cleft palate |
OMIM:179400 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst |
OMIM:617056 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft upper lip, Cleft palate |
OMIM:137215 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the philtrum, Anodontia, Microdontia, Cleft palate, Hypodontia, Cutaneous finger s... |
OMIM:225060 |
Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
Polysyndactyly With Cardiac Malformation |
|
Renal cyst, Syndactyly, Stillbirth, Duplication of phalanx of hallux, Preaxial hand polydactyly, ... |
OMIM:263630 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Stage 5 chronic kidney disease, Nephronophthisis, Glomerular subepithe... |
OMIM:616307 |
Microphthalmia, Syndromic 8 |
|
Cleft palate, Cleft upper lip, Widely-spaced maxillary central incisors, Orofacial cleft, Split foot |
OMIM:601349 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Ectopic kidney, Cryptorchidism, Cystic renal dysplasia, Hepatomegaly |
OMIM:613730 |
Hemifacial Microsomia With Radial Defects |
|
Short mandibular rami, Cleft palate, Complete duplication of thumb phalanx, Non-midline cleft lip... |
OMIM:141400 |
Orofaciodigital Syndrome Ix |
|
High palate, Abnormality of the dentition, Camptodactyly, Hand polydactyly, Short tibia, Accessor... |
OMIM:258865 |
D-Bifunctional Protein Deficiency |
|
Renal cyst, Cholestasis, Bile duct proliferation, Hepatomegaly, Elevated hepatic transaminase, He... |
OMIM:261515 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Multiple renal cysts, Elevated hepatic transaminase, Decreased liver function, Renal cyst |
OMIM:614883 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Microphthalmia |
OMIM:615524 |
Burn-Mckeown Syndrome |
|
Bifid uvula, Unilateral renal agenesis, Cleft palate, Narrow mouth, Thin vermilion border, 2-3 to... |
OMIM:608572 |
Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Abnormality of the dentition, Abnormal palate morphology, Radioulnar synostosis, Carious teeth, M... |
ORPHA:3270 |
Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Anal atresia, Small thenar eminence, Stage 5 chronic kidney disease, Rectal atres... |
OMIM:613390 |
Femoral-Facial Syndrome |
|
Polycystic kidney dysplasia, Abnormality of fibula morphology, Hip dysplasia, Renal hypoplasia/ap... |
ORPHA:1988 |
Beckwith-Wiedemann Syndrome |
|
Renal cortical cysts, Cryptorchidism, Nephrocalcinosis, Enlarged kidney, Hepatomegaly, Hepatoblas... |
OMIM:130650 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Decreased glomerular filtration rate, Tubu... |
OMIM:174000 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts |
OMIM:173900 |
Trisomy 13 |
|
Calvarial skull defect, Bilateral single transverse palmar creases, Hydrops fetalis, Ectrodactyly... |
ORPHA:3378 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Toe syndactyly, Split foot, Split hand, Cleft palate |
OMIM:183700 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
2Q24 Microdeletion Syndrome |
|
Camptodactyly of finger, Bullet-shaped distal phalanx of the hallux, Cleft palate, Long fingers, ... |
ORPHA:1617 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Clinodactyly, Syndactyly, Microphthalmia, Brachydactyly |
OMIM:610023 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Bile duct proliferation, Elevated hepatic transaminase, Decreased liver function, 3-Methylglutaco... |
OMIM:618329 |
Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Abnormality of the dentition, Finger syndactyly, Cleft palate, Everted l... |
ORPHA:915 |
Joubert Syndrome 5 |
|
Renal cortical cysts, Stage 5 chronic kidney disease, Reduced renal corticomedullary differentiat... |
OMIM:610188 |
Van Der Woude Syndrome 2 |
|
Anodontia, Cleft palate, Dental malocclusion, Hypodontia, Lip pit, Cleft upper lip |
OMIM:606713 |
Frontonasal Dysplasia 1 |
|
Median cleft palate, Clinodactyly, Camptodactyly, Joint contracture of the hand, Brachydactyly, P... |
OMIM:136760 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Gait disturbance, Ataxia, Abnormal auditory evoked potentials, Progressive sensorineural hearing ... |
OMIM:125250 |
Caroli Syndrome |
|
Cholangitis, Polycystic kidney dysplasia, Jaundice, Abnormality of the kidney, Liver abscess, Int... |
ORPHA:480520 |
Jawad Syndrome |
|
Hallux valgus, Postaxial polydactyly, Short middle phalanx of the 5th finger, 4-5 toe syndactyly,... |
OMIM:251255 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Midface retrusion, Brachycephaly, Metacarpal synostosis, Brachydactyly |
ORPHA:35099 |
Orofaciodigital Syndrome Vi |
|
Incomplete cleft of the upper lip, Cleft palate, Preaxial foot polydactyly, Toe syndactyly, Fibul... |
OMIM:277170 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperechogenic kidneys, Proteinuria, Stage 5 chronic kidney disease, Reduced renal corticomedulla... |
OMIM:603278 |
Orofaciodigital Syndrome V |
|
High palate, Postaxial foot polydactyly, Bifid uvula, Postaxial polydactyly, Horseshoe kidney, An... |
OMIM:174300 |
Van Der Woude Syndrome |
|
Abnormal salivary gland morphology, Cleft palate, Hypodontia, Lip pit, Cleft upper lip, Lower lip... |
ORPHA:888 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Deeply set eye, Cleft palate, Tented upper lip vermilion, Broad thumb, Cutaneous syndactyly, Shor... |
OMIM:600987 |
Syndactyly Type 4 |
|
Camptodactyly of finger, Hand polydactyly, Short tibia, Toe syndactyly, 1-5 finger syndactyly, Fo... |
ORPHA:93405 |
Distal Deletion 10P |
|
Anal atresia, Polycystic ovaries, Abnormality of the elbow, Cleft palate, Hypoplasia of penis, Cl... |
ORPHA:1580 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal insufficiency, Hematuria, Renal cyst |
OMIM:611773 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Unilateral cleft lip, Abnormal finger morphology, Abnormality of the wrist, Large iliac wing, Abn... |
ORPHA:2511 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Brachycephaly, Microphthalmia |
ORPHA:2528 |
Blepharocheilodontic Syndrome 1 |
|
Conical tooth, Anal atresia, Cutaneous syndactyly, Hypodontia, Clinodactyly, Cleft upper lip, Hyp... |
OMIM:119580 |
Senior-Loken Syndrome 9 |
|
Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Cholestasis, Hepatic fibrosis, Neph... |
OMIM:616629 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Bowing of the legs, Bowing of the arm, Cleft palate |
OMIM:249710 |
C Syndrome |
|
Renal cortical cysts, Cryptorchidism, Hepatomegaly |
OMIM:211750 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia, Hepatomegaly |
OMIM:614859 |
Hartsfield Syndrome |
|
Cleft palate, Non-midline cleft lip, Hypertelorism, Split hand, Aplasia/Hypoplasia of the radius |
ORPHA:2117 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, EEG abnormality, Dysphagia, Facial palsy, Sensorineural hear... |
OMIM:617519 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Renal dysplasia, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal ... |
ORPHA:1475 |
Mosaic Trisomy 1 |
|
Renal cortical cysts, Micropenis, Renal cyst, Hepatic agenesis, Penile hypospadias |
ORPHA:1692 |
Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3375 |
Verloove Vanhorick-Brubakk Syndrome |
|
Abnormality of femur morphology, Finger syndactyly, Abnormal metacarpal morphology, Cleft palate,... |
ORPHA:3429 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Polyhydramnios, Microphthalmia, Symphalangism affecting the phalanges of... |
ORPHA:2547 |
Acrofrontofacionasal Dysostosis |
|
High palate, Short distal phalanx of finger, Camptodactyly of finger, Abnormal epiphysis morpholo... |
ORPHA:1784 |
Hyperbiliverdinemia |
|
Green urine, Cholestasis, Cholelithiasis, Decreased liver function |
OMIM:614156 |
Microphthalmia, Isolated 8 |
|
True anophthalmia, Anophthalmia, Microphthalmia, Optic nerve hypoplasia |
OMIM:615113 |
Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly, Cleft palate |
OMIM:612913 |
Cerebrooculonasal Syndrome |
|
Postaxial hand polydactyly, Anophthalmia, Brachycephaly |
ORPHA:66625 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Open mouth, High palate, Short distal phalanx of finger, Long thumb, Cleft palate, Everted lower ... |
OMIM:220500 |
Otopalatodigital Syndrome Type 1 |
|
Oligodontia, Short distal phalanx of finger, Anodontia, Short thumb, Proximal placement of thumb,... |
ORPHA:90650 |
Pallister-Hall-Like Syndrome |
|
Postaxial foot polydactyly, Hip dislocation, Micropenis, Cleft palate, Renal dysplasia, Toe synda... |
OMIM:241800 |
Teebi Hypertelorism Syndrome 2 |
|
High palate, Syndactyly, Microdontia, Cleft palate, Everted lower lip vermilion, Clinodactyly of ... |
OMIM:619736 |
Acrocallosal Syndrome |
|
Bifid uvula, Cleft palate, Preaxial foot polydactyly, Narrow mouth, Prominent palatine ridges, To... |
OMIM:200990 |
Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, Proteinuria, High palate, Diffuse mesangial sclerosis, Stage 5 chronic kid... |
OMIM:616730 |
Trisomy 8Q |
|
High palate, Camptodactyly of finger, Deep palmar crease, Cleft palate, Hypoplasia of penis, Ever... |
ORPHA:1752 |
Birt-Hogg-Dube Syndrome |
|
Renal neoplasm, Renal cell carcinoma, Renal cyst |
OMIM:135150 |
Trisomy 1Q |
|
Increased nuchal translucency, Camptodactyly of finger, Hydrops fetalis, Polyhydramnios, Toe synd... |
ORPHA:261344 |
Hirschsprung Disease-Deafness-Polydactyly Syndrome |
|
Aganglionic megacolon, Postaxial hand polydactyly, Foot polydactyly, Renal agenesis, Hypertelorism |
ORPHA:2155 |
Ketamine-Induced Biliary Dilatation |
|
Abnormal biliary tract morphology, Dysuria |
ORPHA:293807 |
Autosomal Recessive Polycystic Kidney Disease |
|
Polycystic kidney dysplasia, Enlarged kidney, Cholestasis, Recurrent urinary tract infections, He... |
ORPHA:731 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Median cleft lip, High palate, Bifid uvula, Hypertelorism |
OMIM:155145 |
Zechi-Ceide Syndrome |
|
Short distal phalanx of finger, Oligodontia, Short metatarsal, Cleft palate, Sandal gap, Cleft up... |
OMIM:612916 |
Autosomal Recessive Amelia |
|
Acromelia of the lower limbs, Amelia involving the upper limbs, Hypoplasia of penis, Non-midline ... |
ORPHA:1027 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Renal cortical microcysts, Polycystic kidney dysplasia, Hepatosplenomegaly, Jaundice, Cryptorchid... |
OMIM:614866 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
X-Linked Intellectual Disability, Abidi Type |
|
Non-midline cleft lip, Cleft palate |
ORPHA:85273 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Diastema, Deep philtrum, Talon cusp, Short metatarsal, Microdontia, Syndactyly, Cleft palate, Bra... |
OMIM:605282 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal cyst, Neonatal death, Renal dysplasia, Stillbirth, Cutaneous syndactyly, Talipes equinovaru... |
OMIM:236500 |
Hydrolethalus |
|
Polyhydramnios, Microphthalmia, Anencephaly, Postaxial hand polydactyly, Arrhinencephaly, Anophth... |
ORPHA:2189 |
Microphthalmia With Brain And Digit Anomalies |
|
Postaxial foot polydactyly, Proximal placement of thumb, Finger syndactyly, Microphthalmia, Anoph... |
ORPHA:139471 |
Cranioectodermal Dysplasia 2 |
|
Cholangitis, Left ventricular hypertrophy, Renal cyst, Cholestasis, Renal insufficiency, Bile duc... |
OMIM:613610 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Jaundice, Renal cyst, Cholestasis, Hepatomegaly, Prolonged neonatal jaundice, Elevated hepatic tr... |
ORPHA:79303 |
Diaphanospondylodysostosis |
|
Multiple renal cysts |
ORPHA:66637 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Camptodactyly of finger, Abnormal metaphysis morphology, Abnormal hip bone morphology, Abnormal m... |
ORPHA:2631 |
Bardet-Biedl Syndrome 6 |
|
Hypospadias, Renal cyst |
OMIM:605231 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Renal hypoplasia/aplasia, Short mandibular rami, Aplasia/Hypoplasia of the thumb, Cleft palate, E... |
ORPHA:2549 |
Joubert Syndrome 22 |
|
Postaxial foot polydactyly, Intrauterine growth retardation, Microphthalmia, Postaxial hand polyd... |
OMIM:615665 |
Fanconi Anemia, Complementation Group J |
|
Short thumb, Intrauterine growth retardation, Microphthalmia |
OMIM:609054 |
Temtamy Syndrome |
|
Genu varum, Microphthalmia, Brachydactyly, Short toe, Dolichocephaly, Clinodactyly of the 5th finger |
ORPHA:1777 |
Acropectorovertebral Dysplasia |
|
Short distal phalanx of finger, Camptodactyly of finger, Finger syndactyly, Synostosis of carpal ... |
ORPHA:957 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tooth agenesis, Multiple renal cysts, Renal hypoplasia/aplasia, Abnormal hip bone morphology, Cle... |
ORPHA:1166 |
Odontochondrodysplasia 1 |
|
Polycystic kidney dysplasia, Genu varum, Metaphyseal cupping, Small epiphyses, Metaphyseal wideni... |
OMIM:184260 |
Curry-Jones Syndrome |
|
Craniosynostosis, Finger syndactyly, Microphthalmia, Toe syndactyly, Broad thumb, Abnormality of ... |
ORPHA:1553 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Cloverleaf skull, Platybasia, Abnormal metaphysis morphology, Proximal placement of thumb, Abnorm... |
ORPHA:93267 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Aplasia/Hypoplasia of the radius, Ectopic anus, Non-midline cleft lip, Cleft palate |
ORPHA:2476 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Polycystic kidney dysplasia, Jaundice, Stage 5 chronic kidney... |
OMIM:613095 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Renal cortical microcysts, Hydronephrosis, Cryptorchidism, Albuminuria, Hepatomegaly, Prolonged n... |
OMIM:214100 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Aplasia/Hypoplasia of the distal phalanges of the hand, Cleft palate, Downturned corners of mouth... |
ORPHA:94066 |
Braddock-Carey Syndrome 1 |
|
Clinodactyly, Camptodactyly, Anteriorly placed anus, Enamel hypoplasia, Everted lower lip vermili... |
OMIM:619980 |
Omodysplasia 2 |
|
Short humerus, Micropenis, Dislocated radial head, Broad femoral neck, Cleft palate, Tented upper... |
OMIM:164745 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Craniosynostosis, Oligodactyly, Brachycephaly, Occipital encephalocele, Humeroradial synostosis, ... |
OMIM:614416 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
High palate, Deeply set eye, Widely spaced teeth, Deep philtrum, Cleft palate, Tented upper lip v... |
OMIM:612530 |
Xk Aprosencephaly Syndrome |
|
Polyhydramnios, Abnormal morphology of the radius, Microphthalmia |
ORPHA:3469 |
Genitopalatocardiac Syndrome |
|
Cleft palate, Brachydactyly, Downturned corners of mouth, Postaxial hand polydactyly, Non-midline... |
ORPHA:2075 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
20P13 Microdeletion Syndrome |
|
Polydactyly, Deeply set eye, Finger syndactyly, Tented upper lip vermilion, Brachydactyly, Smooth... |
ORPHA:313781 |
Anophthalmia Plus Syndrome |
|
Deviation of finger, Anophthalmia, Spina bifida |
ORPHA:1104 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Abnormality of the philtrum, Abnormality of the ureter, Polycystic ovaries, Renal hypoplasia/apla... |
ORPHA:1770 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Polycystic kidney dysplasia, Intestinal malrotation, Preaxial polydactyly, Radial bowing, Postaxi... |
OMIM:617866 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Aciduria, Jaundice, Bile duct proliferation, Hepatomegaly, Elevated hepati... |
OMIM:203700 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Pancreatitis, Renal insufficiency, Hypocalciuria, Multiple small medullary renal cysts, Nephrolit... |
OMIM:600740 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Hyperechogenic kidneys, Proteinuria, Renal tubular atrophy, Chronic kidney disease, Tubulointerst... |
OMIM:613092 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Renal cortical cysts, Supernumerary nipple, Renal insufficiency, Elevated hepatic transaminase, R... |
ORPHA:397715 |
Microphthalmia With Limb Anomalies |
|
Hip dislocation, Short tibia, Abnormality of the upper limb, Toe syndactyly, Broad thumb, Bilater... |
ORPHA:1106 |
Laurin-Sandrow Syndrome |
|
Limb duplication, Absent radius, Absent tibia, Finger syndactyly, Abnormality of the wrist, Aplas... |
ORPHA:2378 |
Jeune Syndrome |
|
Renal insufficiency, Nephropathy, Nephronophthisis, Abnormality of the liver |
ORPHA:474 |
Endocrine-Cerebroosteodysplasia |
|
Enlarged kidney, Hypotelorism, Single transverse palmar crease, Brachydactyly, Tibial bowing, Uln... |
OMIM:612651 |
Congenital Varicella Syndrome |
|
Intrauterine growth retardation, Microphthalmia |
ORPHA:291 |
Biemond Syndrome Type 2 |
|
Microphthalmia, Preaxial polydactyly |
ORPHA:141333 |
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Hand polydactyly, Unilateral renal agenesis, Aganglionic megacolon, Hypertelorism |
OMIM:235740 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
High palate, Micropenis, Overlapping fingers, Preaxial polydactyly, Overlapping toe, Bilateral ta... |
OMIM:618142 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
High palate, Abnormal tongue physiology, Postaxial polydactyly, Deeply set eye, Narrow mouth, Thi... |
ORPHA:544254 |
Trichohepatoenteric Syndrome 1 |
|
Renal cortical microcysts, Jaundice, Cholestasis, Galactosuria, Hepatic fibrosis, Hepatomegaly, C... |
OMIM:222470 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Craniotelencephalic Dysplasia |
|
Craniosynostosis, Frontal encephalocele, Microphthalmia, Optic nerve hypoplasia, Arrhinencephaly |
OMIM:218670 |
Bardet-Biedl Syndrome 17 |
|
Postaxial foot polydactyly, Stage 5 chronic kidney disease, Micropenis, Polydactyly, Renal cyst, ... |
OMIM:615994 |
Craniotelencephalic Dysplasia |
|
Craniosynostosis, Frontal encephalocele, Arrhinencephaly, Septo-optic dysplasia, Microphthalmia, ... |
ORPHA:1528 |
Terminal Osseous Dysplasia |
|
Camptodactyly of finger, Camptodactyly of toe, Syndactyly, Accessory oral frenulum, Cleft palate,... |
OMIM:300244 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Plagiocephaly, Camptodactyly of finger, Mitral regurgitation, Ulnar deviation of finger, Umbilica... |
ORPHA:1101 |
Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
Parietal Foramina 1 |
|
Cleft upper lip, Cleft palate |
OMIM:168500 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Short tibia, Incomplete cleft of the upper lip, Cleft palate, Bifid tongue, Hypoplastic pelvis, L... |
OMIM:616300 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hyperechogenic kidneys, Renal insufficiency, Renal corticomedullary cysts, Tubular luminal dilata... |
OMIM:219730 |
Galloway-Mowat Syndrome 7 |
|
Renal tubular atrophy, Proteinuria, High palate, Diffuse mesangial sclerosis, Stage 5 chronic kid... |
OMIM:618348 |
Acrocardiofacial Syndrome |
|
Split foot, Anal atresia, Camptodactyly of finger, Hallux valgus, Finger syndactyly, Abnormal met... |
ORPHA:2008 |
Pierpont Syndrome |
|
Short finger, Brachycephaly, Deep palmar crease, Microphthalmia, Midface retrusion, Short toe, Br... |
OMIM:602342 |
Obsolete: Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Limited elbow extension, High palate, Hypoplastic ilia, Hip dislocation, Hip dysplasia, Ulnar dev... |
ORPHA:93359 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Short lower limbs, Posterior plagiocephaly, Abnormally large globe, Polyhydramnios, Abnormal fibu... |
ORPHA:96190 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Hepatomegaly, Renal cyst |
OMIM:614862 |
Mirizzi Syndrome |
|
Gallbladder perforation, Jaundice, Pancreatitis, Abnormality of the ductus choledochus, Elevated ... |
ORPHA:521219 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Metaphyseal cupping, Hypoplasia of the calcaneus, Intrauterine growth retardation, Microphthalmia... |
OMIM:300863 |
Culler-Jones Syndrome |
|
Micropenis, Postaxial polydactyly, Cleft palate, Hypotelorism, Cleft upper lip |
OMIM:615849 |
Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Triphalangeal thumb, Preaxial polydactyly |
OMIM:605967 |
Meckel Syndrome, Type 1 |
|
Polycystic kidney dysplasia, Cryptorchidism, Hypoplasia of the bladder, Asplenia, Abnormality of ... |
OMIM:249000 |
Suleiman-El-Hattab Syndrome |
|
Hydronephrosis, High palate, Polydactyly, Brachydactyly, Downturned corners of mouth, Long philtr... |
OMIM:618950 |
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome |
|
Non-midline cleft lip, Cleft palate |
ORPHA:1484 |
Diamond-Blackfan Anemia 6 |
|
Short thumb, Bifid uvula, Cleft palate, Triphalangeal thumb, Cleft upper lip, Hypertelorism |
OMIM:612561 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Polydactyly, Syndactyly, Smooth philtrum, Nephroblastoma, Hypertelorism |
OMIM:602501 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Vesicoureteral reflux, Renal cortical cysts |
OMIM:618548 |
Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Renal cyst |
OMIM:611560 |
Split-Hand/Foot Malformation 3 |
|
High palate, Camptodactyly, Cleft palate, Narrow mouth, Split hand, Renal hypoplasia |
OMIM:246560 |
Cystic Echinococcosis |
|
Abnormality of the peritoneum, Jaundice, Cholestatic liver disease, Biliary tract obstruction, Re... |
ORPHA:400 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Foot oligodactyly, Short femur, Bilateral cleft lip, Bilateral cleft palate, Cleft upper lip |
OMIM:601357 |
Joubert Syndrome 15 |
|
Nephronophthisis, Micropenis |
OMIM:614464 |
Orofaciodigital Syndrome Type 1 |
|
Cleft palate, Short toe, Preaxial hand polydactyly, Lobulated tongue, Broad alveolar ridges, Mult... |
ORPHA:2750 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Bifid uvula, Cleft lip, Deeply set eye, Cleft palate, Everted lower lip vermilion, Narrow mouth, ... |
OMIM:618089 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Renal cyst |
OMIM:617100 |
Senior-Loken Syndrome 1 |
|
Thickening of the tubular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency,... |
OMIM:266900 |
Polydactyly, Postaxial, Type A8 |
|
Genu valgum, Postaxial polydactyly |
OMIM:618123 |
3Mc Syndrome 3 |
|
Penoscrotal hypospadias, Micropenis, Preaxial polydactyly, Horseshoe kidney, Cleft palate, Radiou... |
OMIM:248340 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Tooth agenesis, Micropenis, Ectrodactyly, Cleft palate, Clinodactyly, Cleft upper lip |
OMIM:147950 |
Muenke Syndrome |
|
Clinodactyly, Plagiocephaly, Coronal craniosynostosis, Brachycephaly, Thimble-shaped middle phala... |
OMIM:602849 |
Distal Monosomy 7Q36 |
|
Cleft palate, Hypoplasia of penis, Non-midline cleft lip, Symphalangism affecting the phalanges o... |
ORPHA:1636 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Limited elbow extension, Hip dysplasia, Capitate-hamate fusion, Short metacarpal, Cleft palate, I... |
OMIM:614078 |
Joubert Syndrome 10 |
|
Deep philtrum, Postaxial polydactyly, Thick vermilion border |
OMIM:300804 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Renal cyst, Hepatic fibrosis, Hepatomegaly, Cirrhosis, Proximal tubulopathy, Hepatic failure |
OMIM:602579 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Ectopic kidney, Unilateral renal agenesis, Cleft palate, Cleft upper lip, Renal agenesis |
OMIM:601076 |
Oculomaxillofacial Dysostosis |
|
Camptodactyly of finger, Abnormality of the dentition, Abnormality of the humerus, Cleft palate, ... |
ORPHA:1794 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Abnormal renal morphology, Short distal phalanx of finger, Anteriorly placed anus, Abnormal rectu... |
OMIM:239300 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Postaxial polydactyly, Dental crowding, Downturned corners of mouth, Long philtrum, Smooth philtr... |
OMIM:615761 |
Mckusick-Kaufman Syndrome |
|
Hydronephrosis, High palate, Anal atresia, Postaxial foot polydactyly, Urogenital sinus anomaly, ... |
ORPHA:2473 |
Trisomy 17P |
|
Macroglossia, Polycystic kidney dysplasia, Hydronephrosis, High palate, Hypoplasia of penis, Clef... |
ORPHA:261290 |
Ellis-Van Creveld Syndrome |
|
Postaxial foot polydactyly, Abnormality of the alveolar ridges, Cone-shaped epiphyses of phalange... |
OMIM:225500 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Bifid uvula, Deep philtrum, Rocker bottom foot, Tented upper lip vermilion, Hypotelorism, Bilater... |
OMIM:618622 |
Renal Cysts And Diabetes Syndrome |
|
Pancreatic hypoplasia, Abnormal renal morphology, Proteinuria, Abnormality of the kidney, Multipl... |
OMIM:137920 |
Pierpont Syndrome |
|
Short finger, Brachycephaly, Excessive wrinkling of palmar skin, Deep palmar crease, Microphthalm... |
ORPHA:487825 |
Aarskog-Scott Syndrome |
|
Broad philtrum, Syndactyly, Cleft palate, Brachydactyly, Short 5th finger, Hypodontia, Broad palm... |
OMIM:305400 |
Orofaciodigital Syndrome Type 10 |
|
Oligodactyly, Preaxial polydactyly, Metatarsal synostosis, Polysyndactyly of hallux, Radial devia... |
ORPHA:2756 |
Verheij Syndrome |
|
Hip dislocation, Renal cyst, Cleft palate, Long philtrum, Short 5th finger, Clinodactyly, Thin up... |
OMIM:615583 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Lip pit, Non-midline cleft lip, Cleft palate |
ORPHA:1072 |
Caroli Disease |
|
Cholangitis, Polycystic kidney dysplasia, Jaundice, Liver abscess, Intrahepatic cholestasis, Chol... |
ORPHA:53035 |
Branchio-Oculo-Facial Syndrome |
|
Hydronephrosis, High palate, Tooth agenesis, Upper lip pit, Deep philtrum, Microdontia, Everted l... |
ORPHA:1297 |
Jackson-Weiss Syndrome |
|
Broad metatarsal, Craniosynostosis, Coronal craniosynostosis, Calcaneonavicular fusion, Broad dis... |
OMIM:123150 |
Synpolydactyly 2 |
|
Polydactyly, Metatarsal synostosis, Toe syndactyly, Carpal synostosis, Metacarpal synostosis, Tar... |
OMIM:608180 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Gait disturbance, Unsteady gait, Decreased nerve conduction velocity, Hearing impairment, Abnorma... |
OMIM:601455 |
Fanconi Anemia, Complementation Group G |
|
Abnormal thumb morphology, Microphthalmia |
OMIM:614082 |
Trisomy 9P |
|
Deeply set eye, Dental crowding, Brachydactyly, Clinodactyly of the 5th finger, Downturned corner... |
ORPHA:236 |
Al-Gazali-Bakalinova Syndrome |
|
Polydactyly, Flattened epiphysis, Tapered finger, Triangular mouth, Clinodactyly, Epiphyseal dysp... |
OMIM:607131 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Angel-shaped phalanx, Short distal phalanx of finger, Postaxial polydactyly, Flat acetabular roof... |
OMIM:617102 |
Diprosopus |
|
Non-midline cleft lip, Cleft palate |
ORPHA:1681 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Metaphyseal chondrodysplasia, Intrauterine growth retardation, Microphthalmia, Short palm, Fronta... |
ORPHA:163966 |
Mohr-Tranebjaerg Syndrome |
|
Inability to walk, Absent brainstem auditory responses, Attention deficit hyperactivity disorder,... |
ORPHA:52368 |
17Q12 Microduplication Syndrome |
|
Polyhydramnios, Toe syndactyly, Finger syndactyly, Microphthalmia |
ORPHA:261272 |
Orofaciodigital Syndrome I |
|
Polycystic kidney dysplasia, Agenesis of permanent teeth, Polydactyly, Ankyloglossia, Cleft palat... |
OMIM:311200 |
Nager Syndrome |
|
Abnormal palate morphology, Phocomelia, Unilateral renal agenesis, Aplasia/Hypoplasia of the thum... |
ORPHA:245 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal cyst, Renal insufficiency, Hepatomegaly, Renal dysplasia, Hepatic steatosis, Decreased live... |
OMIM:614922 |
Smith-Magenis Syndrome |
|
Open mouth, Hand polydactyly, Abnormality of the ureter, Deeply set eye, Taurodontia, Renal hypop... |
ORPHA:819 |
Microgastria-Limb Reduction Defect Syndrome |
|
Oligodactyly, Plagiocephaly, Absent hand, Abnormality of the humerus, Short thumb, Phocomelia, Ar... |
ORPHA:2538 |
Pai Syndrome |
|
Bifid uvula, Cleft palate, Abnormal oral frenulum morphology, Median cleft lip, Hypertelorism |
ORPHA:1993 |
Coloboma Of Macula And Skeletal Anomalies |
|
Hallux valgus, Coxa valga, Cleft palate, Contracture of the distal interphalangeal joint of the 5... |
OMIM:216800 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia, Plagiocephaly, Flat occiput, Brachycephaly |
ORPHA:2898 |
Roberts Syndrome |
|
Polycystic kidney dysplasia, Proximal placement of thumb, Abnormality of the upper limb, Cleft pa... |
ORPHA:3103 |
Bartsocas-Papas Syndrome |
|
Finger syndactyly, Renal hypoplasia/aplasia, Cleft palate, Narrow mouth, Toe syndactyly, Median c... |
ORPHA:1234 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Microscopic hematuria, Elevated circulating aspartate aminotransferase concentration, Elevated ci... |
OMIM:619525 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Type E brachydactyly, Limited elbow extension, Hip dysplasia, Abnormal hip joint morphology, Flat... |
ORPHA:1856 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Cleft palate, Cleft upper lip, Bifid uvula, Hypertelorism |
OMIM:300958 |
Summitt Syndrome |
|
Craniosynostosis, Plagiocephaly, Camptodactyly of finger, Finger syndactyly, Short 4th metacarpal... |
ORPHA:3210 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Palmoplantar cutis laxa, Deeply set eye, Cleft palate, Hypotelorism, Abnormal digit morphology, C... |
OMIM:268850 |
Acrocephalopolydactylous Dysplasia |
|
Enlarged kidney, Hepatic fibrosis, Hepatomegaly, Polysplenia, Pancreatic fibrosis, Cystic renal d... |
OMIM:200995 |
Limb-Mammary Syndrome |
|
Camptodactyly, Hallux valgus, Bifid uvula, Syndactyly, Cleft palate, Hypodontia, Joint contractur... |
OMIM:603543 |
Mesomelic Dysplasia, Nievergelt Type |
|
Camptodactyly of finger, Abnormality of fibula morphology, Brachycephaly, Genu varum, Finger synd... |
ORPHA:2633 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Cholestasis, Hepatic fibrosis, Hepatomegaly, Nephronophthisis, Hepatic fa... |
OMIM:615630 |
Joubert Syndrome 27 |
|
Dilatation of the renal pelvis, Polydactyly, Thick lower lip vermilion |
OMIM:617120 |
Pallister-Hall Syndrome |
|
Oligodactyly, Hip dislocation, Y-shaped metacarpals, Hydroureter, Mesoaxial foot polydactyly, Cle... |
OMIM:146510 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Patellar aplasia, High palate, Wide capital femoral epiphyses, Patellar hypoplasia, Cleft palate,... |
OMIM:147891 |
Pelger-Huet Anomaly |
|
Median cleft palate, Abnormality of the dentition, Polydactyly, Short 4th metacarpal, Short 3rd m... |
OMIM:169400 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
High palate, Bilateral cleft lip and palate, Deeply set eye, Tapered finger, Clinodactyly of the ... |
OMIM:618829 |
Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia |
OMIM:618161 |
Glycogen Storage Disease Ia |
|
Hepatocellular carcinoma, Proteinuria, Enlarged kidney, Decreased glomerular filtration rate, Pan... |
OMIM:232200 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Intrauterine growth retardation, Microphthalmia, Talipes equinovarus |
OMIM:616171 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
High palate, Polydactyly, Dental crowding, Upper limb asymmetry, Clinodactyly of the 5th finger |
ORPHA:231140 |
Diaphanospondylodysostosis |
|
Enlarged kidney, Horseshoe kidney, Nephroblastomatosis, Abnormal liver lobulation, Cystic renal d... |
OMIM:608022 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Brachycephaly, Flattened epiphysis, Flat acetabular roof, Coxa valga, Abnormality of the elbow, A... |
ORPHA:163649 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Polycystic kidney dysplasia, Hydronephrosis, Enlarged kidney, Elevated circulating aspartate amin... |
OMIM:608836 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Abnormal cranial nerve morphology, Difficulty walking, Decreased motor nerve conduction velocity,... |
OMIM:601596 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia, Prominent occiput, Absent distal phalanges, 2-5 finger cutaneous syndactyly, Smal... |
OMIM:619339 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Stage 5 chronic kidney disease, Ureteropelvic junction obstruction, Unilateral renal agenesis, Ve... |
OMIM:610805 |
Renal Hypoplasia, Bilateral |
|
Microscopic hematuria, Proteinuria, Cryptorchidism, Glycosuria, Chronic kidney disease, Beta 2-mi... |
ORPHA:97362 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Plagiocephaly, Brachycephaly, Postaxial polydactyly, Tapered finger, Midface retrusion, Broad thu... |
OMIM:619721 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Calvarial skull defect, Coronal craniosynostosis, Brachycephaly, Intrauterine grow... |
ORPHA:228390 |
Otopalatodigital Syndrome, Type I |
|
Short distal phalanx of finger, Hip dislocation, Selective tooth agenesis, Abnormality of the fif... |
OMIM:311300 |
Harrod Syndrome |
|
High palate, Hypotelorism, Narrow mouth, Dental malocclusion, Abnormal pelvic girdle bone morphol... |
ORPHA:2115 |
Glycogen Storage Disease Ib |
|
Hepatocellular carcinoma, Proteinuria, Enlarged kidney, Decreased glomerular filtration rate, Pan... |
OMIM:232220 |
Leigh Syndrome With Nephrotic Syndrome |
|
Tubulointerstitial nephritis, Renal cyst, Heavy proteinuria, Nephrotic syndrome, Renal tubular ac... |
ORPHA:255249 |
Prune Belly Syndrome |
|
Recurrent urinary tract infections, Decreased testicular size, Cryptorchidism, Abnormality of the... |
ORPHA:2970 |
Achondrogenesis, Type Ii |
|
Brachycephaly, Abnormally large globe, Edema, Hydrops fetalis, Polyhydramnios, Broad long bones, ... |
OMIM:200610 |
Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Median cleft lip and palate, Horseshoe kidney, Thenar muscle atrophy, Crossed fused renal ectopia... |
ORPHA:2213 |
Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Open mouth, Hip dysplasia, Postaxial polydactyly, Unilateral renal agenesis, Tented upper lip ver... |
OMIM:616362 |
Short Rib-Polydactyly Syndrome |
|
Polycystic kidney dysplasia, Abnormality of the kidney, Abnormal long bone morphology, Polydactyl... |
ORPHA:1505 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Renal dysplasia, Abnormal renal corticomedullary differentiation, Left ventricular hypertrophy |
OMIM:616733 |
Joubert Syndrome 14 |
|
Open mouth, Renal cyst, Postaxial polydactyly, Deeply set eye, Cleft palate, Tented upper lip ver... |
OMIM:614424 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Median cleft palate, Absent tibia, Bilateral talipes equinovarus, Patellar hypoplasia, Preaxial f... |
OMIM:119800 |
Tarp Syndrome |
|
Hydronephrosis, High palate, Bilateral talipes equinovarus, Postaxial polydactyly, Horseshoe kidn... |
OMIM:311900 |
Oligomeganephronia |
|
Proteinuria, Renal tubular atrophy, Stage 5 chronic kidney disease, Decreased glomerular filtrati... |
ORPHA:2260 |
Fryns Syndrome |
|
Hydronephrosis, High palate, Anal atresia, Intestinal malrotation, Short distal phalanx of finger... |
ORPHA:2059 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Oligodactyly, Proteinuria, High palate, Aplasia/Hypoplasia of the radius, Renal insufficiency, Ab... |
ORPHA:1307 |
Cerebrooculonasal Syndrome |
|
Craniosynostosis, Encephalocele, Brachycephaly, Postaxial polydactyly, Optic nerve hypoplasia, Pr... |
OMIM:605627 |
Microphthalmia, Syndromic 11 |
|
Cleft upper lip, Cleft palate |
OMIM:614402 |
17Q12 Microdeletion Syndrome |
|
Cryptorchidism, Renal insufficiency, Renal hypoplasia/aplasia, Elevated hepatic transaminase, Pan... |
ORPHA:261265 |
Peroxisome Biogenesis Disorder 1B |
|
Renal cyst, Hepatic fibrosis, Hepatomegaly, Cirrhosis, Hyperoxaluria |
OMIM:601539 |
Cofs Syndrome |
|
Camptodactyly of finger, Intrauterine growth retardation, Microphthalmia |
ORPHA:1466 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Hypospadias, Hypoplastic ischia, Polydactyly, Hypertelorism |
OMIM:616910 |
Parenteral Nutrition-Associated Cholestasis |
|
Jaundice, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Portal hypert... |
ORPHA:567983 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Septooptic Dysplasia |
|
Short finger, Polydactyly, Optic disc hypoplasia, Optic nerve hypoplasia |
OMIM:182230 |
Late-Infantile/Juvenile Krabbe Disease |
|
Gait disturbance, EEG with persistent abnormal rhythmic activity, Ataxia, Difficulty walking, Los... |
ORPHA:206443 |
Bardet-Biedl Syndrome 9 |
|
Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Renal insufficiency, Syndactyly, ... |
OMIM:615986 |
Microphthalmia, Isolated 5 |
|
Cystoid macular edema, Microphthalmia |
OMIM:611040 |
Orofaciodigital Syndrome Type 2 |
|
Y-shaped metacarpals, Polysyndactyly of hallux, Short tibia, Cleft palate, Preaxial foot polydact... |
ORPHA:2751 |
Abcd Syndrome |
|