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Gene: B9d1 MGI:1351471

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Gene Summary

Name:
B9 protein domain 1
Synonyms:
B9,  Eppb9

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal startle reflex B9d1tm1a(EUCOMM)Wtsi HET Early adult 2.27×10-05
abnormal response to tactile stimuli B9d1tm1a(EUCOMM)Wtsi HET Early adult 3.68×10-12
preweaning lethality, complete penetrance B9d1tm1a(EUCOMM)Wtsi HOM   Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by B9d1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to B9d1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Meckel Syndrome
Postaxial foot polydactyly, Aplasia/Hypoplasia of the tongue, Preaxial hand polydactyly, Furrowed... ORPHA:564
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Joubert Syndrome 27
Thick lower lip vermilion, Polydactyly OMIM:617120
Joubert Syndrome
Situs inversus totalis, Encephalocele, Aganglionic megacolon, Hand polydactyly, Orofacial cleft, ... ORPHA:475

The table below shows human diseases predicted to be associated to B9d1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Cholestasis, Hypertrophic cardiomyo... OMIM:615382
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... OMIM:174500
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni... OMIM:619902
Gombo Syndrome
Brachydactyly, Radial deviation of finger, Clinodactyly, Microphthalmia OMIM:233270
Syndactyly, Type Iv
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... OMIM:186200
RCAD (renal cysts and diabetes)
Abnormality of the liver, Multiple renal cysts DECIPHER:47
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
Acalvaria
Hydrocephalus, Spina bifida, Postaxial hand polydactyly, Holoprosencephaly, Cleft palate ORPHA:945
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Cleft upper lip, Foot oligodactyly, Anterior encephalocele, Ventricular septal def... OMIM:601357
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn... OMIM:616217
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal heart morphology, Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Abno... ORPHA:294975
Brachydactyly, Type C
Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha... OMIM:113100
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Cholestasis, Neonatal death, Cirrhosis, Atrial septal defect, Hepatomegaly... OMIM:208540
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Cholestasis, H... OMIM:615415
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... ORPHA:3269
Triphalangeal Thumb With Polysyndactyly
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... OMIM:190605
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia, Situs inversus totalis OMIM:614844
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Cleft lip, Sandal gap, Diastema, Preaxial polydactyly, Genu valgu... OMIM:617927
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Finger syndactyly, Micromelia, Tetralogy of Fallot, Situs inversus totalis, En... ORPHA:1908
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... ORPHA:731
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... OMIM:263200
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Death in infancy, Neonatal death, Ventricular septal defect, Microphthalmia, Hepa... OMIM:613730
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Renal insufficiency, Hepatic ... OMIM:613095
Hydrolethalus Syndrome 2
Postaxial foot polydactyly, Preaxial foot polydactyly, Agenesis of corpus callosum, Hydrocephalus... OMIM:614120
Meckel Syndrome, Type 8
Hyperechogenic kidneys, Anophthalmia, Microphthalmia, Pericardial effusion, Polycystic kidney dys... OMIM:613885
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly OMIM:607539
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... OMIM:613496
Polydactyly, Preaxial I
Radial deviation of thumb terminal phalanx, Partial duplication of thumb phalanx, Preaxial hand p... OMIM:174400
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Aplasia/Hypoplasia of the radius, Ventricular septal defect, Ectopic anus... ORPHA:2476
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... OMIM:618167
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly, Limited elbow extension, Tapered finger OMIM:300706
Aa Amyloidosis
Chronic kidney disease, Nephropathy, Acute kidney injury, Renal amyloidosis, Cholestasis, Abnorma... ORPHA:85445
Greig Cephalopolysyndactyly Syndrome
Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Broad thumb, Umbilical hernia, Pre... ORPHA:380
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Hartsfield Syndrome
Aplasia/Hypoplasia of the radius, Non-midline cleft of the upper lip, Encephalocele, Split hand, ... ORPHA:2117
Distal Deletion 13Q
Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Abnormal metacarpal morp... ORPHA:1590
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Renal cyst, Decreased liver function, Neonatal death OMIM:614870
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Port... OMIM:617394
Holoprosencephaly 11
Cleft lip, Holoprosencephaly, Cleft palate, Agenesis of corpus callosum OMIM:614226
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Meckel Syndrome, Type 5
Renal cyst, Bile duct proliferation, Microphthalmia OMIM:611561
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Parathyroid carcinoma, Pancreatic adenocarcinoma, Papillary renal cell carci... OMIM:145001
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Hepatic fibrosis, Multicystic kidney dysplasia, Hepatom... OMIM:607361
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Preaxial polydactyly, Overlapping toe, Overlapping fingers, Agenesis of corpus callosum, Ventricu... OMIM:618142
Microhydranencephaly, X-Linked
Holoprosencephaly, Multiple joint contractures OMIM:306990
Meckel Syndrome, Type 7
Aortic valve stenosis, Multicystic kidney dysplasia, Biliary cirrhosis, Cholestasis, Hepatospleno... OMIM:267010
Microphthalmia, Isolated 4
Postaxial polydactyly, Microphthalmia OMIM:613094
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Easily subluxated first metacarpophalangeal joints, Clinodactyly ... OMIM:311895
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Enlarged kidney OMIM:615285
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida, Spina bifida occulta ORPHA:64754
Lambotte Syndrome
Preaxial foot polydactyly, Semilobar holoprosencephaly, Narrow mouth, Ventricular septal defect OMIM:245552
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Abnormal biliary tract morphology, Abnormal liver parenchyma morpho... ORPHA:3032
Pseudotrisomy 13 Syndrome
Postaxial foot polydactyly, Cleft upper lip, Median cleft palate, Encephalocele, Complete atriove... OMIM:264480
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Acropectoral Syndrome
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly OMIM:605967
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia OMIM:614859
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, Preaxial hand polydactyly, Preaxial foot polydactyly, 1-2 toe comple... OMIM:186350
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati... OMIM:618061
Nephronophthisis 3
Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu... OMIM:604387
Triploidy
Finger syndactyly, Intestinal malrotation, Narrow mouth, Hydrocephalus, Abnormal cardiac septum m... ORPHA:3376
Ring Chromosome 21 Syndrome
Small hand, Clinodactyly, Abnormal heart morphology, Azoospermia, Narrow palm, Holoprosencephaly,... ORPHA:1445
Meckel Syndrome, Type 4
Ventricular septal defect, Renal cyst, Atrial septal defect, Microphthalmia, Bile duct proliferation OMIM:611134
Microphthalmia/Coloboma 5
Holoprosencephaly, Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts, Mitral valve prolapse OMIM:173900
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts, Decreased liver function OMIM:600666
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Distal Monosomy 7Q36
Wide mouth, Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Holoprose... ORPHA:1636
Pierre Robin Syndrome
Cor pulmonale, Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:261800
Preaxial Hallucal Polydactyly
Preaxial foot polydactyly, Preaxial hand polydactyly OMIM:601759
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Holoprosencephaly, Hydrocephalus OMIM:617967
Agnathia-Otocephaly Complex
Microglossia, Secundum atrial septal defect, Aglossia, Situs inversus totalis, Narrow mouth, Agen... OMIM:202650
Biliary Atresia, Extrahepatic
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci... OMIM:210500
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia, Polycystic liver disease, Polysplenia OMIM:211890
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... OMIM:600803
Vissers-Bodmer Syndrome
Holoprosencephaly, Tapered finger OMIM:619033
Multiple Synostoses Syndrome 3
Broad thumb, Cutaneous syndactyly of toes, Broad hallux, Humeroradial synostosis, Cubitus valgus,... OMIM:612961
Meckel Syndrome, Type 2
Renal cyst, Bile duct proliferation, Microphthalmia OMIM:603194
Chromosome 1Q41-Q42 Deletion Syndrome
Sandal gap, Cleft upper lip, Widely spaced teeth, Tented upper lip vermilion, Congenital diaphrag... OMIM:612530
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Hepatic periporta... OMIM:231680
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Situs inversus totalis,... OMIM:602088
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Agenesis of corpus callosum, Hydrocephalus, Adducted thumb, Aqueductal stenosis, Holoprosencephaly ORPHA:2182
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Porta... ORPHA:53035
Joubert Syndrome 15
Exencephaly, Preaxial polydactyly OMIM:614464
Acropectoral Syndrome
Finger syndactyly, Preaxial hand polydactyly ORPHA:85203
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Feingold Syndrome 2
Short thumb, 3-4 toe syndactyly, Short middle phalanx of the 2nd finger, Ventricular septal defec... OMIM:614326
Thanatophoric Dysplasia Type 2
Micromelia, Encephalocele, Hydrocephalus, Atrial septal defect, Brachydactyly, Holoprosencephaly,... ORPHA:93274
Biemond Syndrome Type 2
Hydrocephalus, Preaxial polydactyly ORPHA:141333
Feingold Syndrome Type 2
Toe syndactyly, Short thumb, Ventricular septal defect, Jejunal atresia, Brachydactyly, Short mid... ORPHA:391646
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Narrow mouth, ... ORPHA:90652
Joubert Syndrome 18
Occipital encephalocele, Trident pelvis, Agenesis of corpus callosum, Ventricular septal defect, ... OMIM:614815
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Agenesis of corpus callos... OMIM:175700
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Catel-Manzke Syndrome
Abnormal epiphysis morphology, Oral synechia, Camptodactyly of finger, Radial deviation of the 2n... ORPHA:1388
Renal Dysplasia, Cystic, Susceptibility To
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... OMIM:601331
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon, Polysyndactyly of hallux, Preaxial foot polydactyly, Ventricular septal de... OMIM:235750
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency OMIM:615987
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Aplasia of the middle p... OMIM:615297
16P13.11 Microdeletion Syndrome
Cleft upper lip, Camptodactyly of finger, Metatarsus valgus, Exaggerated cupid's bow, Agenesis of... ORPHA:261236
Acropectorovertebral Dysplasia
High, narrow palate, Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Fin... ORPHA:957
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Hand polydactyly, Atrial septal defect, Torticollis, Everted lower lip... OMIM:249670
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Natal tooth, Distal shortening of limbs, Ventricular ... OMIM:146510
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Camptodactyly of finger, Multiple joint contractures, Adducted thumb, Holoprosen... ORPHA:2570
Endocrine-Cerebroosteodysplasia
Natal tooth, Thick upper lip vermilion, Fibular bowing, Agenesis of corpus callosum, Talipes equi... OMIM:612651
Jawad Syndrome
Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Single interphalangeal crease of fifth ... OMIM:251255
Liver Disease, Severe Congenital
Portal inflammation, Dilatation of the ventricular cavity, Hepatic steatosis, Ventricular septal ... OMIM:619991
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal inflamm... OMIM:602347
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Chromosome 3Q13.31 Deletion Syndrome
Alobar holoprosencephaly, Agenesis of corpus callosum, High palate, Short philtrum, Proximal plac... OMIM:615433
Bardet-Biedl Syndrome 5
Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Holoprosencephaly-Caudal Dysgenesis Syndrome
Radial club hand, Median cleft upper lip, Abnormal morphology of the radius, Holoprosencephaly, C... ORPHA:2165
Mmep Syndrome
Ventricular septal defect, Median cleft upper lip, Orofacial cleft, Triphalangeal thumb, Split foot ORPHA:3434
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Natal tooth, Ventricular septal defect, Neonatal death, Short foot, Holopro... OMIM:269860
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Velopharyngeal insufficiency, Long philtrum, Tetralogy of Fallot, Intestinal malrotation, Single ... OMIM:614701
Sonoda Syndrome
Narrow mouth, High axial triradius, Ventricular septal defect OMIM:270460
Ivic Syndrome
Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Carpal bone hypoplasia, ... OMIM:147750
Arthrogryposis, Distal, Type 1C
Bifid uvula, Cleft lip, Shoulder flexion contracture, Pursed lips, Camptodactyly of finger, Elbow... OMIM:619110
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly, Occipital encephalocele OMIM:213010
Meckel Syndrome, Type 6
Hepatic fibrosis, Aplasia of the bladder, Horseshoe kidney, Absent gallbladder, Hepatic cysts, Re... OMIM:612284
Nephronophthisis 20
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... OMIM:617271
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Agenesis of corpus callosum, Talipes equinovarus, Anal atresia, Cone-shaped epiphysis, Hamartoma ... OMIM:613091
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Abnormal heart morphology, Cryptorchidism, Death in childhood, Hypoplasia of the t... OMIM:214110
Caroli Syndrome
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... ORPHA:480520
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Short Stature-Wormian Bones-Dextrocardia Syndrome
Midshaft hypospadias, Cryptorchidism, Renal hypoplasia/aplasia, Dextrocardia, Anterior hypopituit... ORPHA:2863
Monosomy 18P
Tooth malposition, Carious teeth, Downturned corners of mouth, Hypodontia, Brachydactyly, Short p... ORPHA:1598
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Neonatal death, Hydronephrosis, Urethral atresia, Transposition of... OMIM:314390
Eng-Strom Syndrome
Ventricular septal defect, Brachydactyly, Abnormal cardiac septum morphology, Camptodactyly of fi... ORPHA:1937
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus, Myopathy ORPHA:588
Meacham Syndrome
Accessory spleen, Hypoplastic left heart, Horseshoe kidney, Tetralogy of Fallot, Scimitar anomaly... OMIM:608978
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... OMIM:613812
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Hydranencephaly, Truncus arteriosus, Ventricular septal defect, C... OMIM:601355
Fanconi Anemia, Complementation Group O
Abnormal heart morphology, Stage 5 chronic kidney disease, Cryptorchidism, Death in infancy, Neon... OMIM:613390
Kondoh Syndrome
Interphalangeal joint contracture of finger, Long philtrum, Preaxial hand polydactyly, Knee flexi... OMIM:606242
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Renal dysplasia,... OMIM:608836
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Pancreatic hypoplasia, Cryptorchidism, Hydronephrosis, Biliary hyperplasia, Perim... ORPHA:83617
X-Linked Intellectual Disability, Siderius Type
Cleft upper lip, Orofacial cleft, Large hands, Preaxial hand polydactyly ORPHA:85287
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal heart morphology, Periportal fibrosis, Polycystic kidney dysplasia OMIM:263210
Diprosopus
Cleft palate, Anencephaly, Non-midline cleft of the upper lip, Abnormal cardiac septum morphology ORPHA:1681
Nemaline Myopathy 9
Nemaline bodies, Ventricular septal defect, High palate, Arthrogryposis multiplex congenita, Clef... OMIM:615731
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Carnitine Palmitoyltransferase Ii Deficiency
Hepatic failure, Red-brown urine, Cardiomyopathy, Stage 5 chronic kidney disease, Hepatic calcifi... ORPHA:157
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619662
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic failure, Red-brown urine, Cardiomyopathy, Dicarboxylic aciduria, Renal insufficiency, Hep... ORPHA:228308
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia, Submucous cleft hard palate, Talipes equinovarus, Thick vermilio... ORPHA:250999
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Polycystic liver disease OMIM:174050
Indomethacin Embryofetopathy
Nephropathy, Multicystic kidney dysplasia, Cardiomyopathy, Renal insufficiency, Ventricular septa... ORPHA:1909
Iniencephaly
Rhizomelia, Spinal dysraphism, Arthrogryposis multiplex congenita, Rocker bottom foot, Myelomenin... ORPHA:63259
Holzgreve Syndrome
Hypoplastic left heart, Hand polydactyly, Cleft palate, Cleft upper lip OMIM:236110
Joubert Syndrome 6
Hepatic fibrosis, Stage 5 chronic kidney disease, Bile duct proliferation, Nephronophthisis OMIM:610688
Isolated Polycystic Liver Disease
Hepatomegaly, Multiple renal cysts, Polycystic liver disease, Abnormality of the pancreas ORPHA:2924
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Ventricular septal defect, Renal cyst, Atrial septal defect, Stillbirth OMIM:263630
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Micromelia, Preaxial polydactyly, Hamartoma of tongue, Occipital meningocele, ... OMIM:616546
14Q11.2 Microdeletion Syndrome
Toe clinodactyly, Toe syndactyly, Long philtrum, Narrow mouth, Exaggerated cupid's bow, Ventricul... ORPHA:261120
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Splenomegaly, Atrial septal defect, Hepatomegaly, Polycystic kidney dysplasia OMIM:608776
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... ORPHA:79302
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Narrow mouth, Ventricular septal defect, Hydrocephalus, Abnormal cardiac septum morphology, Posta... ORPHA:83473
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Micromelia, Preaxial polydactyly, Intestinal malrotation, Ulnar bowing, Single tra... OMIM:617866
Biemond Syndrome Ii
Hydrocephalus, Preaxial hand polydactyly OMIM:210350
Alagille Syndrome 2
Cholestatic liver disease, Renal hypoplasia, Cholestasis, Tetralogy of Fallot, Renal insufficienc... OMIM:610205
Split-Hand/Foot Malformation 1
Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,... OMIM:183600
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Microphthalmia ORPHA:2432
Robin Sequence-Oligodactyly Syndrome
Finger aplasia, Abnormality of the dentition, Abnormal morphology of ulna, Abnormal metacarpal mo... ORPHA:3104
Bardet-Biedl Syndrome 16
Renal agenesis, Stage 5 chronic kidney disease, Renal insufficiency, Renal cyst, Renal dysplasia OMIM:615993
Trisomy 18
Narrow palate, Deviation of finger, Non-midline cleft of the upper lip, Camptodactyly of finger, ... ORPHA:3380
Duane-Radial Ray Syndrome
Ventricular septal defect, Aplasia of metacarpal bones, Atrial septal defect, Small thenar eminen... OMIM:607323
Cranioacrofacial Syndrome
Abnormal hand morphology, Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect OMIM:122850
Halperin-Birk Syndrome
Semilobar holoprosencephaly, Umbilical hernia, Thick vermilion border, Congenital diaphragmatic h... OMIM:618651
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Cleft lip, Natal tooth, Short tibia, Preaxial polydactyly, Hamartoma of tongue, Hypop... OMIM:616300
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Brachydactyly, Syndactyly, Clinodactyly, Microphthalmia OMIM:610023
Microcephaly-Cardiomyopathy Syndrome
High, narrow palate, Dilated cardiomyopathy, Sandal gap, Ventricular septal defect, Clinodactyly ... ORPHA:2515
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Elevated circulating hepatic transaminase concentra... ORPHA:26791
Femoral-Facial Syndrome
Long penis, Cryptorchidism, Renal hypoplasia/aplasia, Abnormal localization of kidney, Polycystic... ORPHA:1988
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, High palate, Accessory oral frenulum, Syndactyly, Preaxial hand polyd... OMIM:252100
Fetal Minoxidil Syndrome
Clinodactyly of the 5th finger, Ventricular septal defect, Umbilical hernia ORPHA:1918
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Agenesis of corpus callosum, Ventricular septal defect, Tracheoesophageal fistula, Esophageal atr... ORPHA:77298
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Mesomelic leg shortening, Bowing of the arm, Mesomelic arm shortening, C... OMIM:249710
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Decreased liver function, Cardiomyopathy, Renal insufficiency, Hepatic steatosi... OMIM:614922
49,Xxxxy Syndrome
Carious teeth, Abnormal epiphysis morphology, Elbow dislocation, Delayed eruption of teeth, Open ... ORPHA:96264
Aase-Smith Syndrome I
Slender finger, Open mouth, Ventricular septal defect, Talipes equinovarus, Hydrocephalus, Flexio... OMIM:147800
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Postaxial polydactyly, Clinodactyly, Polydactyly OMIM:615984
Orofaciodigital Syndrome Type 6
Midline notch of upper alveolar ridge, Lobulated tongue, Finger clinodactyly, Preaxial polydactyl... ORPHA:2754
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys... OMIM:610199
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ... ORPHA:90301
Rhyns Syndrome
Hypopituitarism, Abnormality of the liver, Nephronophthisis, Multicystic kidney dysplasia ORPHA:140976
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Encephalocele, Agenesis of c... OMIM:253800
Isolated Biliary Atresia
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun... ORPHA:30391
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Microform Holoprosencephaly
Duodenal atresia, Tetralogy of Fallot, Tented upper lip vermilion, Agenesis of corpus callosum, S... ORPHA:280200
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Intrahepatic bile duct dilatation, Stage 5 chronic kidney dis... OMIM:614377
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Meckel Syndrome 14
Postaxial foot polydactyly, Occipital encephalocele, Bowing of the long bones, Postaxial polydact... OMIM:619879
2Q24 Microdeletion Syndrome
Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Camptodactyly of fing... ORPHA:1617
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Microglossia, Situs inversus totalis, Narrow mouth, Agenesis of corpus callosum, Holoprosencephaly ORPHA:990
Holoprosencephaly 14
Alobar holoprosencephaly, Cleft lip, Ventricular septal defect, Median cleft upper lip, Double ou... OMIM:619895
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Rhizomelia, Abnormal epiphysis morphology, Preaxial hand polydact... ORPHA:3098
Cerebrooculofacioskeletal Syndrome 3
Talipes equinovarus, Rocker bottom foot, Microphthalmia OMIM:616570
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Enlarged kidney, Nephroblastoma OMIM:618272
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Alobar holoprosencephaly, Semilobar holoprosencephaly, Median cleft palat... OMIM:301043
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Steinfeld Syndrome
Bifid uvula, Abnormal heart morphology, Median cleft palate, Median cleft upper lip, Aplasia/Hypo... OMIM:184705
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Atrioventricular canal de... ORPHA:1120
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... OMIM:613027
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... OMIM:306955
Thomas Syndrome
Hypoplastic left heart, Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Fryns Microphthalmia Syndrome
Anophthalmia, Neural tube defect, Microphthalmia OMIM:600776
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Encephalocele, Cleft palate ORPHA:217
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Downturned corners of mouth, Ventricular septal defect, Short philtrum, Ectopic anus, Aplasia/Hyp... ORPHA:94066
Holoprosencephaly-Postaxial Polydactyly Syndrome
Umbilical hernia, Intestinal malrotation, Narrow mouth, Encephalocele, Orofacial cleft, Hydroceph... ORPHA:2166
Orofaciodigital Syndrome Vi
Toe syndactyly, Clinodactyly, Fibular aplasia, Agenesis of corpus callosum, High palate, Accessor... OMIM:277170
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis, Renal hypoplasia, Renal cyst, Polycystic kidney dysplasia, Hypospadias OMIM:614091
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Hepatic fibrosis, Nephritis, Renal insufficiency, Death in infancy, Prote... OMIM:208500
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Unilateral cleft lip, Median cleft palate,... OMIM:610828
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Microphthalmia OMIM:614830
Carpenter Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Umbilical hernia, Preaxial foot polydactyly, Genu... ORPHA:65759
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Hypertrophic cardiomyopathy, Splenomegaly, Death i... OMIM:617303
Chromosome 13Q14 Deletion Syndrome
Umbilical hernia, Overlapping toe, Patent foramen ovale, Agenesis of corpus callosum, Ventricular... OMIM:613884
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Cryptorchidism, Anophthalmia, Neonatal death, Ventricular septal defect,... OMIM:615524
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... OMIM:607626
Odontochondrodysplasia 1
Nephronophthisis, Polycystic kidney dysplasia, Death in infancy OMIM:184260
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepatosplenomegaly, C... OMIM:614866
Distal Triplication 15Q
Dilatation of the renal pelvis, Horseshoe kidney, Abnormal heart morphology, Nephroblastoma, Hydr... ORPHA:314588
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Holoprosencephaly, Semilobar, With Craniosynostosis
Short distal phalanx of finger, Semilobar holoprosencephaly, Coxa valga OMIM:601370
Bardet-Biedl Syndrome 17
Stage 5 chronic kidney disease, Situs inversus totalis, Renal cyst, Polyuria, Dextrocardia, Micro... OMIM:615994
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Situs inversus totalis, Dextrocardia OMIM:618948
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Tetralogy of Fallot, Multiple renal cysts ORPHA:3033
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Bardet-Biedl Syndrome 4
Renal cyst, Cryptorchidism, Abnormality of the kidney OMIM:615982
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Brachydactyly-Preaxial Hallux Varus Syndrome
Broad thumb, Preaxial hand polydactyly, Radial club hand, Abnormal palate morphology, Brachydacty... ORPHA:1278
Ulnar Hemimelia
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... ORPHA:93320
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Acetabular spurs, Femoral bowing, Ventricular septal defect, Postaxial poly... OMIM:615503
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Cutaneous finger syndactyly, 2-3 toe syndactyly, Median cleft upper lip, Split ha... DECIPHER:46
Stromme Syndrome
Preaxial polydactyly, Intestinal malrotation, Myopathy, Agenesis of corpus callosum, Jejunal atre... OMIM:243605
Diaphanospondylodysostosis
Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis, Enlarged kidney, Cystic renal dysplasia,... OMIM:608022
Intellectual Developmental Disorder, Autosomal Recessive 79
Slender finger, Ventricular septal defect, Thin upper lip vermilion, Smooth philtrum, Short hallu... OMIM:620393
Chromosome 15Q14 Deletion Syndrome
Cleft lip, Tented upper lip vermilion, Ventricular septal defect, Atrial septal defect, Everted l... OMIM:616898
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... ORPHA:2378
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, Microphthalmia ORPHA:1528
Mosaic Trisomy 9
Horseshoe kidney, Abnormal heart valve morphology, Endocardial fibroelastosis, Cryptorchidism, Ve... ORPHA:99776
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Overlapping toe, Avascular necrosis of the capital femoral epiphysis, Ventricular septal defect, ... OMIM:614262
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Distal shortening of limbs, ... OMIM:300863
Trisomy 17P
Aortic valve stenosis, Hypoplastic left heart, Hydronephrosis, Hypoplasia of penis, Urethral valv... ORPHA:261290
Johanson-Blizzard Syndrome
Exocrine pancreatic insufficiency, Death in infancy, Hydronephrosis, Dextrocardia, Abnormal cardi... ORPHA:2315
Meckel Syndrome, Type 10
Bifid uvula, Postaxial foot polydactyly, Occipital encephalocele, Postaxial polydactyly, Ulnar de... OMIM:614175
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Frontonasal Dysplasia 1
Cranium bifidum occultum, Joint contracture of the hand, Anterior basal encephalocele, Clinodacty... OMIM:136760
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Ventricular septal defect, C... OMIM:301068
Trisomy 4P
Abnormality of the dentition, Carious teeth, Preaxial hand polydactyly, Radial club hand, Camptod... ORPHA:1738
Pentalogy Of Cantrell
Aplasia/Hypoplasia of the radius, Tetralogy of Fallot, Abnormal pericardium morphology, Abnormal ... ORPHA:1335
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pul... OMIM:607941
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Dextrocardia OMIM:606217
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr... OMIM:618280
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Ketonuria, Hypertrophic cardiomyopathy, Microphthalmia, Hepatomegaly OMIM:619053
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
Pelger-Huet Anomaly
Abnormality of the dentition, Short 3rd metacarpal, Umbilical hernia, Upper limb undergrowth, Sho... OMIM:169400
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Polysplenia, Atrioventricular canal defect, Dextrotransp... OMIM:613751
Orofaciodigital Syndrome Xiv
Cleft lip, Occipital encephalocele, Broad hallux, Natal tooth, Preaxial polydactyly, Hamartoma of... OMIM:615948
Intellectual Developmental Disorder, Autosomal Recessive 73
Widely spaced teeth, Thick upper lip vermilion, Single transverse palmar crease, Ventricular sept... OMIM:619717
Carpenter Syndrome 1
Joint contracture of the hand, Toe syndactyly, Shallow acetabular fossae, Genu valgum, Ventricula... OMIM:201000
Dextrocardia
Abnormality of abdominal situs, Pancreatic hypoplasia, Abnormal heart morphology, Abnormality of ... ORPHA:1666
Tyrosinemia, Type I
Hepatic failure, Elevated circulating hepatic transaminase concentration, Nephrocalcinosis, Eleva... OMIM:276700
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Nanophthalmos
Microphthalmia ORPHA:35612
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Ventricular septal defect, Smooth philtrum, Hydrocephalus, Syndactyly OMIM:602501
Bresek Syndrome
Renal hypoplasia, Hypoplasia of the bladder, Decreased testicular size, Vesicoureteral reflux, Cr... ORPHA:85284
Cat-Eye Syndrome
Hydronephrosis, Abnormal localization of kidney, Microphthalmia, Renal hypoplasia/aplasia ORPHA:195
Arima Syndrome
Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Hepatic steatosis, Renal sodi... OMIM:243910
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, Median cleft upper lip, High palate, Cleft palate, Syndactyly OMIM:300484
Jackson-Weiss Syndrome
Toe syndactyly, Preaxial foot polydactyly, Abnormal palate morphology, Symphalangism affecting th... ORPHA:1540
Acrocallosal Syndrome
Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Everted upper lip vermilion, Narro... OMIM:200990
Holoprosencephaly-Craniosynostosis Syndrome
Short distal phalanx of finger, Brachydactyly, Clinodactyly of the 5th finger, Holoprosencephaly,... ORPHA:2163
Heart Defects-Limb Shortening Syndrome
Mesomelic/rhizomelic limb shortening, Abnormal tricuspid valve morphology, Abnormal mitral valve ... ORPHA:1354
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr... OMIM:232200
Branchiootorenal Syndrome 1
Unilateral renal agenesis, Renal malrotation, Abnormal renal collecting system morphology, Euthyr... OMIM:113650
Schisis Association
Micromelia, Unilateral cleft lip, Congenital diaphragmatic hernia, Encephalocele, Tracheoesophage... ORPHA:63862
Syndromic Diarrhea
Hepatic fibrosis, Renal hypoplasia, Abnormal heart morphology, Tetralogy of Fallot, Abnormality o... ORPHA:84064
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 5th finger, Broad thumb, Secundum atrial septal defect, Sandal gap, Broad hallux, Cleft upp... OMIM:600987
Orofaciodigital Syndrome Xvii
High, narrow palate, Clinodactyly, Tetralogy of Fallot, Short middle phalanx of the 2nd finger, P... OMIM:617926
Genitopalatocardiac Syndrome
Ventricular septal defect, Renal cyst, Transposition of the great arteries, Double outlet right v... OMIM:231060
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Postaxial foot polydactyly, Mesoaxial hand polydactyly, Partial atriovent... OMIM:615996
Marden-Walker Syndrome
Renal hypoplasia, Cryptorchidism, Dextrocardia, Microphthalmia, Micropenis, Hypospadias OMIM:248700
Spinal Muscular Atrophy, Type I
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Ventricular septal defect, Prox... OMIM:253300
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... OMIM:206920
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Peroxisome Biogenesis Disorder 8A (Zellweger)
Epiphyseal stippling, Glossoptosis, Ventricular septal defect OMIM:614876
Solitary Median Maxillary Central Incisor
Cleft upper lip, Prominent median palatal raphe, Solitary median maxillary central incisor, Torus... OMIM:147250
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Hamartoma of tongue, Lobulated tongue, P... OMIM:258860
Smith-Lemli-Opitz Syndrome
Postaxial foot polydactyly, Finger syndactyly, Congenital diaphragmatic hernia, Ventricular septa... ORPHA:818
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Microphthalmia ORPHA:324416
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Char Syndrome
Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Persistence of primary te... ORPHA:46627
8P23.1 Duplication Syndrome
Toe syndactyly, Long philtrum, Tetralogy of Fallot, Ventricular septal defect, Thick vermilion bo... ORPHA:251076
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Frontal encephalocele, Microphthalmia OMIM:218670
Pancreatic Agenesis-Holoprosencephaly Syndrome
Semilobar holoprosencephaly, Agenesis of corpus callosum, Solitary median maxillary central incis... ORPHA:556955
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Tetralogy of Fallot, Foot polydactyly, Median cleft upper lip, Aplasia/Hypoplasia of the thumb, O... ORPHA:3186
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Right Atrial Isomerism
Common atrium, Total anomalous pulmonary venous return, Polysplenia, Tetralogy of Fallot, Abdomin... OMIM:208530
Nanophthalmos 4
Microphthalmia OMIM:615972
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr... OMIM:232220
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney, Cystic renal d... OMIM:200995
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Stage 5 chronic kidney d... OMIM:194080
Pelvis-Shoulder Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Hypoplastic acetabulae, Clino... OMIM:169550
Mirizzi Syndrome
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Dark urine, Pancreatitis... ORPHA:521219
Holoprosencephaly
Spinal dysraphism, Tooth agenesis, Tetralogy of Fallot, Branchial anomaly, Encephalocele, Congeni... ORPHA:2162
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Cardioacrofacial Dysplasia 1
Conical tooth, Diastema, Atrioventricular canal defect, Genu valgum, Complete atrioventricular ca... OMIM:619142
Congenital Varicella Syndrome
Micromelia, Microphthalmia ORPHA:291
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Lateral ventricle dilatation, Open mouth, Myopath... OMIM:616816
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Cutaneous finger syndactyly, Type B brachydactyly, Ve... OMIM:113000
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Elevated circulati... ORPHA:400
Anencephaly 2
Median cleft upper lip, Cleft maxillary alveolar ridge, Anencephaly, Median cleft palate OMIM:619452
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Lateral ventricle dilatation, Elbow disloca... OMIM:210710
Braddock-Carey Syndrome 1
Small hand, Clinodactyly, Anteriorly placed anus, Agenesis of corpus callosum, Aortic valve prola... OMIM:619980
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Congenital muscular torticollis, Ventricular septal defect, Ectopic... ORPHA:2345
14Q24.1Q24.3 Microdeletion Syndrome
Short thumb, Long philtrum, Abnormal heart morphology, Intestinal malrotation, Limited elbow exte... ORPHA:401935
Orofaciodigital Syndrome Type 2
Natal tooth, Finger syndactyly, Short tibia, Velopharyngeal insufficiency, Broad first metatarsal... ORPHA:2751
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Cryptorchidism, Dextrocardia, Ventricular septal defect OMIM:618067
8P Inverted Duplication/Deletion Syndrome
Abnormality of the urinary system, Abnormal heart morphology, Tetralogy of Fallot, Cryptorchidism... ORPHA:96092
Ciliary Dyskinesia, Primary, 17
Dynein arm defect of respiratory motile cilia, Situs inversus totalis, Dextrocardia OMIM:614679
Distal Duplication 5Q
Cryptorchidism, Ventricular septal defect, Aplasia/Hypoplasia of the gallbladder, Dextrocardia, H... ORPHA:96097
Holoprosencephaly 4
Median cleft upper lip, Semilobar holoprosencephaly, Median cleft palate OMIM:142946
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Joubert Syndrome 22
2-3 toe syndactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Microphthalmia OMIM:615665
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Hydrocephalus, Cleft palate OMIM:258320
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Small hand, Clinodactyly, Congenital diaphragmatic hernia, Ventricular septal defect, Atrial sept... OMIM:301044
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Elevated circulating hepatic transaminase concentration, Multiple renal cysts, Decrea... OMIM:614883
Ciliary Dyskinesia, Primary, 7
Abnormal axonemal organization of respiratory motile cilia, Situs inversus totalis, Dextrocardia OMIM:611884
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Thick lower lip vermilion, Ventricular septal defect, Atrial septal defect, Short philtrum, Widel... OMIM:608227
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcaneus, Hypoplastic iliac w... ORPHA:163966
Combined Oxidative Phosphorylation Deficiency 37
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypertrophic c... OMIM:618329
Townes-Brocks Syndrome 1
Broad thumb, Pseudoepiphyses of second metacarpal, Ventricular septal defect, Atrial septal defec... OMIM:107480
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, C... ORPHA:79303
Oculoauriculofrontonasal Syndrome
Cleft lip, Narrow mouth, Encephalocele, Ventricular septal defect, Broad philtrum, Cleft palate ORPHA:398156
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Orofaciodigital Syndrome V
Bifid uvula, Postaxial foot polydactyly, Sandal gap, Tetralogy of Fallot, Ankyloglossia, Hamartom... OMIM:174300
Axial Osteomalacia
Renal cyst, Polycystic liver disease OMIM:109130
Filippi Syndrome
2-4 toe syndactyly, Finger clinodactyly, Serrated incisors, Abnormal dental morphology, Single tr... OMIM:272440
Curry-Jones Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial hand polydactyly, Abnormality of thumb p... ORPHA:1553
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Delayed eruption of permanent teeth, Exaggerated cupid's bow, Ventricular septal defect, Thick ve... OMIM:618506
Coach Syndrome 1
Hepatic fibrosis, Unilateral renal agenesis, Elevated circulating hepatic transaminase concentrat... OMIM:216360
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Cleft lip, Natal tooth, Short tibia, Preaxial polydactyly, Tetralogy of Fallot, Hamartoma of tong... OMIM:617925
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Polysplenia, Dextrocardia OMIM:615482
3P25.3 Microdeletion Syndrome
Broad thumb, Overlapping toe, Ventricular septal defect, 2-3 finger syndactyly, Atrial septal def... ORPHA:435638
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Congenital Disorder Of Glycosylation, Type Ib
Hepatic fibrosis, Hepatic failure, Proximal tubulopathy, Death in childhood, Renal cyst, Cirrhosi... OMIM:602579
Igg4-Related Kidney Disease
Chronic kidney disease, Abnormal mesentery morphology, Urethritis, Hematuria, Abnormality of the ... ORPHA:449395
Dihydropyrimidine Dehydrogenase Deficiency
Uraciluria, Elevated urinary dihydrothymine level, Microphthalmia OMIM:274270
Pallister-Hall-Like Syndrome
Postaxial foot polydactyly, Toe syndactyly, Occipital encephalocele, Micromelia, Microglossia, Me... OMIM:241800
Holoprosencephaly 9
Alobar holoprosencephaly, Dental malocclusion, Downturned corners of mouth, Cleft upper lip, Thic... OMIM:610829
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia, Goiter OMIM:617577
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Umbilical hernia, Hypertrophic cardiomyopathy, Protruding tongue, Ventricular septal... OMIM:612938
Facial Clefting, Oblique, 1
Deep palmar crease, Microphthalmia OMIM:600251
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Renal cortical cysts, Vesicoureteral re... OMIM:130650
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Dextrocardia, Absent inner and outer dynein arms OMIM:618063
Hyperbiliverdinemia
Cholestasis, Cholelithiasis, Green urine, Decreased liver function OMIM:614156
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Joubert Syndrome 17
Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly OMIM:614615
Interstitial Nephritis, Karyomegalic
Elevated circulating hepatic transaminase concentration, Nephronophthisis, Renal tubular cyst, Gl... OMIM:614817
Oculoauriculovertebral Spectrum With Radial Defects
Non-midline cleft of the upper lip, Preaxial hand polydactyly, Atrioventricular canal defect, Apl... ORPHA:2549
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Parathyroid hypoplasia, Abnormal heart morphology, Renal insufficiency... ORPHA:2237
Matthew-Wood Syndrome
Renal hypoplasia, Annular pancreas, Horseshoe kidney, Vesicoureteral reflux, Cryptorchidism, Anop... ORPHA:2470
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Microphthalmia OMIM:614082
Suleiman-El-Hattab Syndrome
Clinodactyly, Downturned corners of mouth, Long philtrum, Thick lower lip vermilion, Patent foram... OMIM:618950
Czeizel-Losonci Syndrome
Abnormality of the urinary system, Ureteral agenesis, Hydronephrosis, Hypoplastic nipples, Dextro... ORPHA:2437
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Vesicoureteral reflux, Cryptorchidism, Ventricular septal defect, Renal hypo... ORPHA:1166
3Mc Syndrome 3
Tessier cleft, Clinodactyly, Cleft upper lip, Preaxial polydactyly, Diastasis recti, Radioulnar s... OMIM:248340
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Multiple renal cysts, Pericardial e... ORPHA:464329
Hartsfield Syndrome
Alobar holoprosencephaly, Semilobar holoprosencephaly, Ectrodactyly, Cleft upper lip, Agenesis of... OMIM:615465
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Bifid uvula, Short thumb, Cleft upper lip, Tetralogy of Fallot, Mitral v... OMIM:612561
Smith-Lemli-Opitz Syndrome
Postaxial foot polydactyly, Overlapping toe, Ventricular septal defect, Atrial septal defect, Hol... OMIM:270400
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Microphthalmia OMIM:120433
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Xk Aprosencephaly Syndrome
Narrow mouth, Ventricular septal defect, Atrial septal defect, Abnormal morphology of the radius,... ORPHA:3469
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Orbital encephalocele, Anophthalmia, Microphthalmia OMIM:164180
Septooptic Dysplasia
Polydactyly, Short finger, Optic disc hypoplasia, Optic nerve hypoplasia OMIM:182230
Orofaciodigital Syndrome Xi
Postaxial polydactyly, Cleft palate OMIM:612913
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Death in childhood, Decreased pineal volume, Microphthalmia, ... OMIM:301108
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Abnormal epiphysis morphology, Downturned corners of mouth, Abnormal metaphysis morph... ORPHA:93267
Heterotaxy, Visceral, 5, Autosomal
Renal hypoplasia, Total anomalous pulmonary venous return, Ureteral stenosis, Abdominal situs inv... OMIM:270100
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Cardiomegaly, Microphthalmia, Hepatomega... ORPHA:858
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... ORPHA:3329
Temtamy Syndrome
Short toe, Brachydactyly, Microphthalmia, Clinodactyly of the 5th finger, Genu varum ORPHA:1777
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Dental crowding, Diastasis recti, Polydactyly, Clinodactyly of the 5th finger, High palate, Upper... ORPHA:231140
Heterotaxy, Visceral, 2, Autosomal
Abdominal situs inversus, Left atrial isomerism, Atrioventricular canal defect, Polysplenia, Situ... OMIM:605376
Carpenter Syndrome 2
Broad thumb, Carious teeth, Cutaneous finger syndactyly, Talipes equinovarus, Atrial septal defec... OMIM:614976
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Abnormal heart morphology, Abnormal aortic valve morphology, Atrial... ORPHA:261197
Holoprosencephaly 2
Bifid uvula, Alobar holoprosencephaly, Semilobar holoprosencephaly, Median cleft palate, Submucou... OMIM:157170
Curry-Jones Syndrome
Anal stenosis, Broad thumb, Lip pit, Intestinal pseudo-obstruction, Preaxial hand polydactyly, 3-... OMIM:601707
D-Bifunctional Protein Deficiency
Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatic steatosis, Splenome... OMIM:261515
Orofaciodigital Syndrome Type 5
Postaxial foot polydactyly, Postaxial polysyndactyly of foot, Cleft soft palate, Agenesis of corp... ORPHA:2919
Oculofaciocardiodental Syndrome
Tooth malposition, Genu valgum, Mitral valve prolapse, Radioulnar synostosis, Submucous cleft har... ORPHA:2712
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Ureteral agenesis, Neonatal death, Renal cyst, Stillbirth, Renal dysplasia OMIM:236500
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Arachnodactyly, Hand polydactyly, Transposition o... ORPHA:261243
Joubert Syndrome 16
Encephalocele, Polydactyly OMIM:614465
Holt-Oram Syndrome
Hypoplastic left heart, Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent ... ORPHA:392
Periventricular Nodular Heterotopia 7
1-4 toe syndactyly, Contracture of the proximal interphalangeal joint of the 2nd finger, Dental c... OMIM:617201
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Synostosis of carpal bones, Elbow dislocation, Short thumb, Sanda... ORPHA:90650
Vater/Vacterl Association
Occipital encephalocele, Short thumb, Preaxial polydactyly, Tetralogy of Fallot, Ventricular sept... OMIM:192350
Meckel Syndrome
Postaxial foot polydactyly, Aplasia/Hypoplasia of the tongue, Preaxial hand polydactyly, Furrowed... ORPHA:564
Desbuquois Syndrome
Small hand, Elbow dislocation, Camptodactyly of finger, Ventricular septal defect, Radioulnar syn... ORPHA:1425
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Do... OMIM:220210
Moebius Syndrome
Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,... OMIM:157900
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Abdominal situs inversus, Dextrocardia OMIM:619607
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Angel-shaped phalanx, Short distal phalanx of finger, Carious teeth, Sandal gap, Widely spaced te... OMIM:617102
Jacobsen Syndrome
Ventricular septal defect, Atrial septal defect, Hydrocephalus, Brachydactyly, Clinodactyly of th... OMIM:147791
Heterotaxy, Visceral, 7, Autosomal
Total anomalous pulmonary venous return, Polysplenia, Mitral atresia, Atrioventricular canal defe... OMIM:616749
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Bardet-Biedl Syndrome 9
Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Brachydactyly, Postaxial hand pol... OMIM:615986
Ring Chromosome 7 Syndrome
Short 5th finger, Slender finger, Small hand, Bifid uvula, 3-4 toe syndactyly, Genu valgum, Situs... ORPHA:1449
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Supernumerary nipple, Atrioventricular canal defect, Cryptorchidism, Dextrocardia, Micropenis OMIM:618929
Fanconi Anemia, Complementation Group J
Short thumb, Microphthalmia OMIM:609054
Pierpont Syndrome
Short toe, Prominent fingertip pads, Short finger, Deep palmar crease, Broad palm, Microphthalmia... OMIM:602342
Ketamine-Induced Biliary Dilatation
Dysuria, Abnormal biliary tract morphology ORPHA:293807
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Preaxial foot polydactyly, Median cleft palate, Mirror image foot polydactyl... OMIM:119800
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Marden-Walker Syndrome
Abnormal penis morphology, Multicystic kidney dysplasia, Abnormality of the urinary system, Hydro... ORPHA:2461
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Hepatic steatosis, Pancreatitis, Elevated circulating alanine aminotransf... OMIM:618805
Ciliary Dyskinesia, Primary, 30
Absent outer dynein arms, Situs inversus totalis, Dextrocardia, Ventricular septal defect OMIM:616037
Holoprosencephaly 3
Bifid uvula, Cleft lip, Solitary median maxillary central incisor, Holoprosencephaly, Cleft palate OMIM:142945
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly, Renal cyst, Death in infancy OMIM:614862
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Cleft lip, Clinodactyly, Partial duplication of thumb phalanx, Ventricula... OMIM:616730
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hydroureter, Abnormality of the upper urinary tract, Microphthalmia, Hypoplasia of penis, Abnorma... ORPHA:2547
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Median cleft pal... ORPHA:1827
Trisomy 1Q
Toe syndactyly, Camptodactyly of finger, Preaxial hand polydactyly, Narrow mouth, Congenital diap... ORPHA:261344
Meckel Syndrome, Type 1
Malformation of the hepatic ductal plate, Accessory spleen, Hypoplasia of the bladder, Renal agen... OMIM:249000
Weyers Ulnar Ray/Oligodactyly Syndrome
Finger aplasia, Absent thumb, Cleft upper lip, Proximal radial head dislocation, Solitary median ... OMIM:602418
Roifman Syndrome
Short toe, Downturned corners of mouth, Long philtrum, Irregular femoral epiphysis, Hip contractu... OMIM:616651
Joubert Syndrome 39
Hypoplastic left heart, Polycystic kidney dysplasia OMIM:619562
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Pierpont Syndrome
Short toe, Prominent fingertip pads, Short finger, Excessive wrinkling of palmar skin, Deep palma... ORPHA:487825
Pallister-Hall Syndrome
Toe syndactyly, Broad thumb, Radial bowing, Natal tooth, Polydactyly affecting the 4th finger, Ov... ORPHA:672
Campomelia, Cumming Type
Multicystic kidney dysplasia, Death in infancy, Aplasia/Hypoplasia affecting the eye, Multiple re... ORPHA:1318
8Q12 Microduplication Syndrome
Long philtrum, Narrow mouth, Ventricular septal defect, Atrial septal defect, Everted lower lip v... ORPHA:228399
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Dilatation of the renal pelvis, Cholestasis, Dark urine... OMIM:619534
Houge-Janssens Syndrome 2
Broad hallux, Deviation of the 5th finger, Open mouth, Tented upper lip vermilion, Agenesis of co... OMIM:616362
Alg9-Cdg
Periportal fibrosis, Hypoplasia of the bladder, Right ventricular dilatation, Abnormal heart morp... ORPHA:79328
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Elbow dislocation, Synostosis of carpal bones, Short ... ORPHA:1106
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Cholestasis, ... ORPHA:562639
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Ureteral stenosis, Dextrocardia ORPHA:2257
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infections, Tetralogy of Fallo... ORPHA:2970
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Chromosome 6Pter-P24 Deletion Syndrome
Rocker bottom foot, Dental crowding, Cleft upper lip, Umbilical hernia, Tetralogy of Fallot, Abno... OMIM:612582
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bifid uvula, Broad distal phalanx of finger, Postaxial foot polydactyly, Downturned corners of mo... ORPHA:404440
Cranioectodermal Dysplasia 2
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Poly... OMIM:613610
Hydrolethalus
Bifid uvula, Gingival cleft, Micromelia, Unilateral cleft lip, Submucous cleft hard palate, Agene... ORPHA:2189
Multiple Epiphyseal Dysplasia Type 4
Radial bowing, Abnormal hand morphology, Dislocation of the femoral head, Genu valgum, Talipes eq... ORPHA:93307
Distal Deletion 12Q
Congenital hypertrophy of left ventricle, Annular pancreas, Pituitary adenoma, Vesicoureteral ref... ORPHA:96149
Joubert Syndrome 40
Postaxial polydactyly, Optic nerve hypoplasia OMIM:619582
Oculogastrointestinal Neurodevelopmental Syndrome
Horseshoe kidney, Bicuspid aortic valve, Unilateral microphthalmos, Bilateral microphthalmos OMIM:619318