Gene Summary

Name:
B9 protein domain 1
Synonyms:
B9,  Eppb9

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 response to tactile stimuli B9d1tm1a(EUCOMM)Wtsi HET Early adult 3.68×10-12
abnormal startle reflex B9d1tm1a(EUCOMM)Wtsi HET Early adult 2.27×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

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
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... ORPHA:93403
Meckel Syndrome, Type 4
Hydrocephalus, Atrial septal defect, Microphthalmia, Cleft palate, Anencephaly, Ventricular septa... OMIM:611134
Gombo Syndrome
Radial deviation of finger, Brachydactyly, Clinodactyly, Microphthalmia OMIM:233270
Syndactyly, Type Iv
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... OMIM:186200
Meckel Syndrome, Type 3
Hydrocephalus, Hepatomegaly, Cleft palate, Multicystic kidney dysplasia, Polydactyly, Malformatio... OMIM:607361
Meckel Syndrome, Type 5
Cleft upper lip, Cleft palate, Anencephaly, Postaxial hand polydactyly, Renal cyst, Postaxial foo... OMIM:611561
Synpolydactyly 1
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... OMIM:186000
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, ... OMIM:113100
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Pulmonic stenosis, Cholestasis, Enl... OMIM:615382
Meckel Syndrome, Type 2
Microphthalmia, Cleft palate, Intestinal malrotation, Anencephaly, Polydactyly, Postaxial hand po... OMIM:603194
Polydactyly, Preaxial Ii
Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... OMIM:174500
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal cardiac septum morphology, Cleft palate, Abnormal hip bone morphology, Upper limb phocom... ORPHA:294975
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... ORPHA:3269
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Talipes equinovarus, Hepatomegaly, Pulmonic stenosis, Femoral bowing, Cyst... OMIM:615415
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... OMIM:619902
Triploidy
Aplasia/Hypoplasia affecting the eye, Abnormal cardiac septum morphology, Hydrocephalus, Wide mou... ORPHA:3376
Meckel Syndrome, Type 6
Aplasia of the bladder, Cleft upper lip, Hydrocephalus, Talipes equinovarus, Cleft palate, Anence... OMIM:612284
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Cleft upper lip, Hydrocephalus, 2-3 toe syndactyly, Atrial septal defect, Cryp... OMIM:264480
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Enlarged kidney, Hepatic cys... OMIM:208540
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
High palate, Cleft palate, Short uvula, Micromelia, Microdontia, Bowing of the long bones, Short ... OMIM:614091
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb OMIM:174200
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Esophageal varix, Fat malabsorp... ORPHA:731
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Accessory oral frenulum, Postaxial polydactyly, Preaxial polydact... OMIM:617927
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
High palate, Overlapping toe, Atrial septal defect, Bilateral talipes equinovarus, Postaxial poly... OMIM:618142
Czeizel-Losonci Syndrome
High palate, Hydrocephalus, Tracheoesophageal fistula, 2-3 finger syndactyly, Single transverse p... ORPHA:2437
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Anal atresia, Midshaft hypospadias, Renal hypoplasia/aplasia, Tooth agenesis, Campto... ORPHA:2863
Femoral-Facial Syndrome
Coxa vara, Renal hypoplasia/aplasia, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Cleft ... ORPHA:1988
Meckel Syndrome, Type 11
Polycystic kidney dysplasia, Occipital encephalocele, Polydactyly OMIM:615397
Distal Monosomy 13Q
Aplasia/Hypoplasia affecting the eye, Abnormal cardiac septum morphology, Anal atresia, Renal hyp... ORPHA:1590
Holoprosencephaly 5
High palate, Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Oral cl... OMIM:609637
Acrocephalopolysyndactyly Type Iv
Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th... OMIM:201020
Pallister-Hall Syndrome
Cleft palate, Ventricular septal defect, Y-shaped metacarpals, Anteriorly placed anus, Microphtha... OMIM:146510
Short Rib-Polydactyly Syndrome
Nephronophthisis, Cleft palate, Cone-shaped epiphysis, Micromelia, Hepatic cysts, Bowing of the l... ORPHA:1505
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Nephronophthisis, Micromelia, Delayed eruptio... OMIM:184260
Santos Syndrome
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly... OMIM:613005
Aa Amyloidosis
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Malabsorption, Abnormality of the kidne... ORPHA:85445
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Hydrocephalus, Urethral atresia, Atrioventricular canal defect, Tracheoesophageal f... OMIM:314390
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Cleft palate, Holoprosencephaly, Anencephaly, Micromelia, Tetralogy of Fallot, Ven... ORPHA:1908
Biemond Syndrome Type 2
Preaxial polydactyly, Hypospadias, Hydrocephalus, Microphthalmia ORPHA:141333
RCAD (renal cysts and diabetes)
Multiple renal cysts, Abnormality of the liver DECIPHER:47
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
High palate, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Tapered... OMIM:608836
Microphthalmia, Isolated 4
Postaxial polydactyly, Microphthalmia OMIM:613094
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Hepatomegaly, Anencephaly, Lobulated tongue, Ventricular septal defect, Median cle... OMIM:269860
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly, Anophthalmia, Oral cleft, Bilateral microphthalmos, Microphthalmia OMIM:611638
Meckel Syndrome, Type 7
Atrial septal defect, Aortic valve stenosis, Right ventricular hypertrophy, Hepatosplenomegaly, M... OMIM:267010
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Peroxisome Biogenesis Disorder 2A (Zellweger)
Talipes equinovarus, Joint contracture of the hand, Aminoaciduria, Hepatomegaly, Cleft palate, Hy... OMIM:214110
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Acalvaria
Hydrocephalus, Cleft palate, Holoprosencephaly, Postaxial hand polydactyly, Spina bifida ORPHA:945
Trisomy 17P
High palate, Wide mouth, Hydrocephalus, Clinodactyly of the 5th finger, Aortic valve stenosis, Hy... ORPHA:261290
Distal Monosomy 7Q36
Wide mouth, Clinodactyly of the 5th finger, Hypoplasia of penis, Cleft palate, Holoprosencephaly,... ORPHA:1636
Endocrine-Cerebroosteodysplasia
Cleft upper lip, Hydrocephalus, Ulnar deviation of the hand, Cleft palate, Postaxial polydactyly,... OMIM:612651
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft palate, Femoral bowing, Cone-shaped epiphysis, Short digit, Enlarged kidney, Hypoplasia of ... OMIM:613091
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Orofaciodigital Syndrome I
High palate, Hydrocephalus, Cleft palate, Ovarian cyst, Lobulated tongue, Hepatic cysts, Carious ... OMIM:311200
Meckel Syndrome 14
Postaxial polydactyly, Holoprosencephaly, Single ventricle, Syndactyly, Postaxial hand polydactyl... OMIM:619879
Meckel Syndrome, Type 10
Ulnar deviation of the hand, Cleft palate, Postaxial polydactyly, Micropenis, Hypospadias, Anence... OMIM:614175
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Wide mouth, Hepatomegaly, Hepatosplenomegaly, Long philtrum, ... OMIM:608776
Holoprosencephaly, Recurrent Infections, And Monocytosis
Short toe, Holoprosencephaly, Micropenis, Brachydactyly, Tapered finger, Cryptorchidism, Agenesis... OMIM:610680
Duane-Radial Ray Syndrome
Absent thumb, Hypoplasia of the radius, Ventricular septal defect, Hypoplasia of the ulna, Sandal... OMIM:607323
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Overlapping toe, Narrow mouth, Hepatomegaly, Cleft palate, Micropenis, Arachnodac... ORPHA:83617
Mosaic Trisomy 9
High palate, Cleft palate, Abnormal liver lobulation, Micromelia, Finger clinodactyly, Ventricula... ORPHA:99776
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Hepatomegaly, Epiphyseal stippling OMIM:614859
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transami... ORPHA:567983
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... OMIM:613496
Polydactyly, Preaxial Iv
1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy... OMIM:174700
Meckel Syndrome 13
Polycystic kidney dysplasia, Occipital encephalocele, Flexion contracture OMIM:617562
Marden-Walker Syndrome
High palate, Narrow mouth, Talipes equinovarus, Joint contracture of the hand, Cleft palate, Micr... OMIM:248700
Meckel Syndrome, Type 1
Abnormal cardiac septum morphology, Hydrocephalus, Wide mouth, Cleft palate, Abnormality of the u... OMIM:249000
Bardet-Biedl Syndrome 17
Mesoaxial hand polydactyly, Short fourth metatarsal, Micropenis, Polyuria, Brachydactyly, Polydac... OMIM:615994
Gillessen-Kaesbach-Nishimura Syndrome
Ulnar deviation of the hand, Periportal fibrosis, Narrow greater sciatic notch, Flexion contractu... OMIM:263210
Fanconi Anemia, Complementation Group O
Anal atresia, Miscarriage, Absent thumb, Hypoplasia of the radius, Small thenar eminence, Neonata... OMIM:613390
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Hypoplasia of penis, Holoprosencephaly, Hypospadias, Tracheoesophageal fistula, An... ORPHA:77298
Thoraco-Abdominal Enteric Duplication
Duodenal stenosis, Hepatomegaly, Intestinal malrotation, Camptodactyly of finger, Dextrocardia, M... ORPHA:1759
Chromosome 1Q41-Q42 Deletion Syndrome
High palate, Cleft upper lip, Talipes equinovarus, Supernumerary nipple, Cleft palate, Holoprosen... OMIM:612530
Stromme Syndrome
Wide mouth, Hydrocephalus, Duodenal atresia, Cleft palate, Preaxial polydactyly, Optic nerve hypo... OMIM:243605
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease OMIM:617610
Liver Disease, Severe Congenital
Hydrocele testis, Chronic gastritis, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic fai... OMIM:619991
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Cleft upper lip, Short femur, Holoprosencephaly, Anterior encephalocele, Ventricular septal defec... OMIM:601357
Meckel Syndrome, Type 8
Talipes equinovarus, Anophthalmia, Polydactyly, Postaxial hand polydactyly, Microphthalmia, Encep... OMIM:613885
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Recurrent urinary tract infections, Multiple renal cysts, Hepatic cysts, Situs inve... OMIM:613095
Mmep Syndrome
Split foot, Oral cleft, Ventricular septal defect, Triphalangeal thumb, Median cleft lip, Microph... ORPHA:3434
Meckel Syndrome
Hydrocephalus, Aplasia/Hypoplasia of the tongue, Cleft palate, Anencephaly, Furrowed tongue, Bowi... ORPHA:564
Otopalatodigital Syndrome Type 2
Abnormal cardiac septum morphology, Hydrocephalus, Cleft palate, Ureteral obstruction, Bowing of ... ORPHA:90652
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Radial bowing, 2-3 toe syndactyly, Postaxial polydactyly, Preaxial polydactyly, In... OMIM:617866
Hartsfield Syndrome
Cleft palate, Aplasia/Hypoplasia of the radius, Non-midline cleft lip, Microphthalmia, Split hand... ORPHA:2117
Catel-Manzke Syndrome
High palate, Cleft upper lip, Clinodactyly of the 5th finger, Talipes equinovarus, Hyperphalangy ... OMIM:616145
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Cleft palate, Micropenis, Intestinal malrotation, Pancreatic fibrosis, Brac... OMIM:263520
Acromelic Frontonasal Dysostosis
Cleft upper lip, U-Shaped upper lip vermilion, Talipes equinovarus, Cryptorchidism, Cleft palate,... OMIM:603671
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Hepatomegaly, High, narrow palate, Hepatic failure, Hepatic calcification, Myoglob... ORPHA:228308
Bardet-Biedl Syndrome 10
Renal insufficiency, Abnormality of the kidney, Renal cyst, Polydactyly OMIM:615987
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Postaxial polydactyly, Adducted thumb, Overlapping fingers, Brach... OMIM:618167
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Anophthalmia, Cleft palate, Microphthalmia OMIM:221950
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus, Hepatomegaly, Hepatic failure, Hepatic calcification, Myoglobinuria, Cystic renal ... ORPHA:157
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the ulna, Hypoplastic pelvis, P... OMIM:208500
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Syndactyly, Hepatic cysts, Ventricular septal defect, Renal cyst, Duplicati... OMIM:263630
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Branchiootorenal Syndrome 1
High palate, Euthyroid goiter, Cleft palate, Unilateral renal agenesis, Abnormal renal collecting... OMIM:113650
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Hydrocephalus, Hepatomegaly, Atrioventricular canal defect, Biliary atre... OMIM:306955
Chromosome 3Q13.31 Deletion Syndrome
High palate, Alobar holoprosencephaly, High, narrow palate, Micropenis, Short philtrum, Decreased... OMIM:615433
Marden-Walker Syndrome
Hydrocephalus, Cleft palate, Abnormality of the upper urinary tract, Radioulnar synostosis, Ventr... ORPHA:2461
Nanophthalmos 4
Microphthalmia OMIM:615972
Ring Chromosome 21 Syndrome
Holoprosencephaly, Small hand, Syndactyly, Narrow palm, Clinodactyly, Azoospermia, Abnormal heart... ORPHA:1445
Nephronophthisis 19
Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat... OMIM:616217
Trisomy 18
Cleft palate, Abnormality of the upper urinary tract, Anencephaly, Abnormality of the upper limb,... ORPHA:3380
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, Cutaneous syndactyly, Br... OMIM:236500
Distal Tetrasomy 15Q
Hydrocele testis, High palate, Hydrocephalus, Atrial septal defect, Flexion contracture, Arachnod... ORPHA:314588
Adams-Oliver Syndrome 4
Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Ap... OMIM:615297
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Abnormal muscle fiber morphology, Joint contracture of the hand, Camptodactyly of ... OMIM:175700
Steinfeld Syndrome
Unilateral renal dysplasia, Holoprosencephaly, Hypoplasia of the radius, Bifid uvula, Hypoplasia ... OMIM:184705
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Glossoptosis, Elevated circulating aspartate aminotransferase concentration, Ventri... OMIM:614876
49,Xxxxy Syndrome
Cleft palate, Down-sloping shoulders, Delayed eruption of teeth, Radioulnar synostosis, Carious t... ORPHA:96264
Ellis Van Creveld Syndrome
Atrioventricular canal defect, Abnormality of the dentition, Abnormality of the ureter, Micromeli... ORPHA:289
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Anal atresia, Cryptorchidism, Cleft palate, Postaxial polydactyly, Preaxial polydactyly, Bifid to... OMIM:616300
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Postaxial hand polydactyly, Renal cyst, Multinodular goiter, Bilateral triphalangeal thumbs, Prea... OMIM:138790
Thanatophoric Dysplasia Type 2
Hydrocephalus, Atrial septal defect, Holoprosencephaly, Abnormality of the kidney, Micromelia, Br... ORPHA:93274
Holoprosencephaly-Postaxial Polydactyly Syndrome
Abnormal cardiac septum morphology, Hydrocephalus, Renal hypoplasia/aplasia, Microphthalmia, Hypo... ORPHA:2166
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Syndactyly, Neonatal death, Ventricular septal defect, Mesomelia, Hypoplasia of the ulna, Renal c... OMIM:228940
Holoprosencephaly 11
Cleft palate, Holoprosencephaly, Cleft lip, Polysplenia, Agenesis of corpus callosum OMIM:614226
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Multiple joint contractures, Renal hypoplasia/aplasia, Adducted thumb, Holoprosencephaly, Camptod... ORPHA:2570
Mucopolysaccharidosis-Plus Syndrome
Nephrotic syndrome, Atrial septal defect, Nephritis, Flared iliac wing, Hepatomegaly, Splenomegal... OMIM:617303
8P Inverted Duplication/Deletion Syndrome
Wide mouth, Clinodactyly of the 5th finger, High, narrow palate, Micropenis, Everted lower lip ve... ORPHA:96092
Bardet-Biedl Syndrome 5
Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Jawad Syndrome
Postaxial polydactyly, Single interphalangeal crease of fifth finger, Absent fourth finger distal... OMIM:251255
Peroxisome Biogenesis Disorder 6A (Zellweger)
Decreased liver function, Hepatomegaly, Renal cyst, Colpocephaly, Epiphyseal stippling OMIM:614870
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Jaundice, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholest... OMIM:617394
Meacham Syndrome
Enlarged kidney, Ventricular septal defect, Horseshoe kidney, Cardiac total anomalous pulmonary v... OMIM:608978
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hepatic cysts, Mitral valve prolapse, Polycystic kidney dysplasia, Renal insufficiency, Colonic d... OMIM:173900
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Talipes equinovarus, Microphthalmia OMIM:616570
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Parathyroid adenoma, Parathyroid carcinoma, Nephroblastoma, Renal cortical adeno... OMIM:145001
Mental retardation, x-linked, syndromic, Turner type
Limited elbow extension, Macroorchidism, Tapered finger, Holoprosencephaly OMIM:300706
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Postaxial hand polydactyly, Triphalangeal thumb, Multinodular goite... ORPHA:2091
Distal Trisomy 5Q
Narrow mouth, Absent thumb, Hypoplasia of the radius, Hypospadias, Thin vermilion border, Brachyd... ORPHA:96097
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Abnormality of the dentition, Syndactyly, Brachydactyly, Polydactyly, ... OMIM:615982
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Postaxial polydactyly OMIM:213010
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Hardikar Syndrome
Hepatomegaly, Hepatic failure, Hypoplasia of the bladder, Bladder exstrophy, Cholestasis, Ventric... OMIM:301068
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Holzgreve Syndrome
Cleft upper lip, Hypoplastic left heart, Cleft palate, Renal agenesis, Renal hypoplasia, Hand pol... OMIM:236110
Arima Syndrome
Occipital meningocele, Wide mouth, Hepatomegaly, Renal tubular atrophy, Nephronophthisis, Tubuloi... OMIM:243910
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Hepatomegaly, Glycosuria, Neonatal death, Generalized aminoaciduria, Polycy... OMIM:231680
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Polycysti... ORPHA:53035
Mosaic Trisomy 1
Wide mouth, Cleft palate, 2-3 finger syndactyly, Finger clinodactyly, Ventricular septal defect, ... ORPHA:1692
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia OMIM:613703
Bresek Syndrome
Hydrocephalus, Cleft palate, Optic nerve hypoplasia, Hypoplasia of the bladder, Neonatal death, R... ORPHA:85284
Poland Syndrome
Unilateral oligodactyly, Hypoplasia of latissimus dorsi muscle, Unilateral absence of pectoralis ... OMIM:173800
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Hiatus hernia, Splenomegaly, Buphthalmos, Long philtrum, Cholestasis, Pancreatic hy... OMIM:610199
Roberts Syndrome
High palate, Cleft palate, Hypoplasia of the radius, Abnormality of the upper limb, Radioulnar sy... ORPHA:3103
Monosomy 18P
Tooth malposition, Cleft palate, Holoprosencephaly, Hypodontia, Short philtrum, Brachydactyly, Ca... ORPHA:1598
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Renal hypoplasia/aplasia, Holoprosencephaly, Hypoplasia of the radius, Abnormality of the humerus... ORPHA:3186
Microform Holoprosencephaly
Duodenal atresia, Hypoplasia of penis, Cleft palate, Holoprosencephaly, Renal agenesis, EMG: myop... ORPHA:280200
Smith-Lemli-Opitz Syndrome
Dental crowding, Hydrocephalus, Hepatomegaly, Cleft palate, Broad alveolar ridges, Micromelia, Ve... OMIM:270400
Frontonasal Dysplasia 1
Median cleft palate, Joint contracture of the hand, Brachydactyly, Tetralogy of Fallot, Camptodac... OMIM:136760
Fryns Microphthalmia Syndrome
Anophthalmia, Neural tube defect, Microphthalmia OMIM:600776
Meier-Gorlin Syndrome 7
High palate, Bowing of the legs, Anal atresia, 2-3 toe syndactyly, Atrial septal defect, Narrow m... OMIM:617063
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Smith-Lemli-Opitz Syndrome
Wide mouth, Cleft palate, Atrioventricular canal defect, Advanced eruption of teeth, Ulnar deviat... ORPHA:818
Chromosome 13Q14 Deletion Syndrome
High palate, Overlapping toe, Clinodactyly of the 5th finger, Supernumerary nipple, Holoprosencep... OMIM:613884
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Anal atresia, Narrow greater sciatic notch, Postaxial polydactyly, Preaxial polydactyly, Short ti... OMIM:617925
Lambert Syndrome
Wide mouth, Intrahepatic biliary atresia, Hypospadias, Cholestasis, Ventricular septal defect, Br... ORPHA:1296
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand, Chronic kidney disease, Hepato... OMIM:615630
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
16P13.11 Microdeletion Syndrome
Cleft upper lip, Wide mouth, Atrial septal defect, Talipes equinovarus, Cleft palate, Holoprosenc... ORPHA:261236
Pentalogy Of Cantrell
Hydrocephalus, Atrial septal defect, Congenital diaphragmatic hernia, Abnormal pericardium morpho... ORPHA:1335
Bardet-Biedl Syndrome 12
Polydactyly OMIM:615989
Holoprosencephaly-Caudal Dysgenesis Syndrome
Cleft palate, Holoprosencephaly, Radial club hand, Abnormal morphology of the radius, Renal insuf... ORPHA:2165
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru... ORPHA:730
Pallister-Hall-Like Syndrome
Hydrocephalus, Cleft palate, Micropenis, Micromelia, Anterior hypopituitarism, Renal dysplasia, P... OMIM:241800
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Ethylmalonic aciduria, Hepatomegaly, 3-Methylglutaric aciduria, Acute p... ORPHA:26791
Distal Monosomy 12Q
Biliary atresia, Pyloric stenosis, Single transverse palmar crease, Broad hallux, Clinodactyly of... ORPHA:96149
Thomas Syndrome
Cleft upper lip, Renal hypoplasia/aplasia, Hypoplastic left heart, Cleft palate, Multicystic kidn... ORPHA:3316
Dextrocardia
Hydrocephalus, Intestinal malrotation, Abnormality of the ureter, Congenital hip dislocation, Abn... ORPHA:1666
Cranioectodermal Dysplasia 2
High palate, Hepatomegaly, Cleft palate, Microdontia, Cholestasis, Rhizomelia, Bile duct prolifer... OMIM:613610
Campomelia, Cumming Type
Polycystic liver disease, Polycystic kidney dysplasia, Bowing of the long bones, Polysplenia, Pan... OMIM:211890
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Johanson-Blizzard Syndrome
Abnormal cardiac septum morphology, Exocrine pancreatic insufficiency, Anal atresia, Malabsorptio... ORPHA:2315
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Cleft palate, Unilateral renal agenesis, Ventricular septal defec... OMIM:601355
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Narrow mouth, Hypoplasia of penis, Holoprosencephaly, Situs inversus totalis, Microglossia, Agene... ORPHA:990
Genitopalatocardiac Syndrome
Abnormal cardiac septum morphology, Hydrocephalus, Congenital diaphragmatic hernia, Cleft palate,... ORPHA:2075
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Median cleft palate, Microphthalmia ORPHA:2432
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Tooth agenesis, Congenital diaphragmatic hernia, Cleft palate, Abnormal... ORPHA:1166
Mucolipidosis Ii Alpha/Beta
Wide mouth, Hepatomegaly, Bullet-shaped phalanges of the hand, Enlarged kidney, Varus deformity o... OMIM:252500
Acropectoral Syndrome
Preaxial polydactyly, Partial duplication of thumb phalanx, Triphalangeal thumb OMIM:605967
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Intestinal malrotation, Multicystic kidney dysplasia, Abnormal... ORPHA:3032
Agnathia-Otocephaly Complex
Narrow mouth, Secundum atrial septal defect, Cleft palate, Holoprosencephaly, Situs inversus tota... OMIM:202650
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Congenital diaphragmatic hernia, Preaxial hand polydactyly, Broad hallux phalanx, ... ORPHA:380
Diaphanospondylodysostosis
Talipes equinovarus, Nephrogenic rest, Cleft palate, Abnormal liver lobulation, Cystic renal dysp... OMIM:608022
Poland Syndrome
Cone-shaped epiphysis, Abnormality of the humerus, Encephalocele, Abnormality of the hand, Aplasi... ORPHA:2911
Roberts-Sc Phocomelia Syndrome
High palate, Hydrocephalus, Cleft palate, Long penis, Ventricular septal defect, Biliary tract ab... OMIM:268300
Genitopalatocardiac Syndrome
Double outlet right ventricle, Cleft upper lip, Cleft palate, Hypospadias, Ventricular septal def... OMIM:231060
Nevus Comedonicus Syndrome
Preaxial polydactyly, Spina bifida occulta, Spina bifida, Finger syndactyly, Toe syndactyly ORPHA:64754
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Hydranencephaly, Holoprosencephaly OMIM:617967
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Hiatus hernia, Tracheoesophageal fistula, Abnormality of the humerus, Horseshoe kid... ORPHA:2538
Orofaciodigital Syndrome Type 6
High palate, Renal hypoplasia/aplasia, Cleft palate, Preaxial polydactyly, Renal agenesis, Finger... ORPHA:2754
Microhydranencephaly, X-Linked
Multiple joint contractures, Holoprosencephaly OMIM:306990
Rhyns Syndrome
Nephronophthisis, Hypoplastic ilia, Multicystic kidney dysplasia, Abnormal long bone morphology, ... ORPHA:140976
Townes-Brocks Syndrome 1
Hydrocephalus, Tracheoesophageal fistula, Ventricular septal defect, Umbilical hernia, Anal atres... OMIM:107480
Lambotte Syndrome
Ventricular septal defect, Narrow mouth, Preaxial foot polydactyly, Semilobar holoprosencephaly OMIM:245552
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Brachydactyly, Clinodactyly, Microphthalmia OMIM:610023
Synpolydactyly 2
Carpal synostosis, Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, ... OMIM:608180
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Simpson-Golabi-Behmel Syndrome, Type 1
Wide mouth, Hydrocephalus, Short sternum, Hepatomegaly, Hepatoblastoma, Cleft palate, 2-3 finger ... OMIM:312870
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Hallux Varus And Preaxial Polysyndactyly
Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly OMIM:234280
Catel-Manzke Syndrome
Clinodactyly of the 5th finger, Atrial septal defect, Radial deviation of the 2nd finger, Cleft p... ORPHA:1388
Holoprosencephaly
Hydrocephalus, Ventricular septal defect, Median cleft lip and palate, Solitary median maxillary ... ORPHA:2162
Bardet-Biedl Syndrome 7
Clinodactyly, 2-3 toe syndactyly, Polydactyly, Postaxial polydactyly OMIM:615984
Caroli Syndrome
Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Hepatic failure, Cirrhosis, Abnormality of the ki... ORPHA:480520
Polydactyly, Preaxial I
Partial duplication of thumb phalanx, Preaxial hand polydactyly, Radial deviation of thumb termin... OMIM:174400
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Simpson-Golabi-Behmel Syndrome, Type 2
High palate, Wide mouth, U-Shaped upper lip vermilion, Talipes equinovarus, Cleft palate, Micrope... OMIM:300209
Femoral-Facial Syndrome
Cleft palate, Short fourth metatarsal, Radioulnar synostosis, Ventricular septal defect, Short fi... OMIM:134780
2Q24 Microdeletion Syndrome
Bullet-shaped distal phalanx of the hallux, Camptodactyly of finger, Long fingers, Microphthalmia... ORPHA:1617
Vacterl/Vater Association
Abnormal cardiac septum morphology, Cleft palate, Tracheoesophageal fistula, Anencephaly, Abnorma... ORPHA:887
22Q11.2 Deletion Syndrome
Tricuspid atresia, Cholelithiasis, Hydrocephalus, Cleft palate, Abnormality of the dentition, Sho... ORPHA:567
Alg9-Cdg
Wide mouth, Hepatomegaly, Hypoplasia of the bladder, Enlarged kidney, Ventricular septal defect, ... ORPHA:79328
Orofaciodigital Syndrome Vi
High palate, Cleft upper lip, Accessory oral frenulum, Mesoaxial hand polydactyly, Cleft palate, ... OMIM:277170
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Coxa vara, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Velopharyngeal insufficiency, Clef... OMIM:614701
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Long hallux, Tibial bowing, Talipes equinovarus, Macroglossia, Multicystic kidney dysplasia, Neph... ORPHA:500095
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Absent thumb, Hypoplasia of the radius, Biliary tract abnormality, Hyp... OMIM:156810
Vissers-Bodmer Syndrome
Tapered finger, Holoprosencephaly OMIM:619033
Joubert Syndrome 39
Hypoplastic left heart, Postaxial polydactyly, Joint contracture of the 5th finger, Polycystic ki... OMIM:619562
Indomethacin Embryofetopathy
Atrial septal defect, Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy... ORPHA:1909
Diabetic Embryopathy
Aplasia/Hypoplasia affecting the eye, Hydrocephalus, Renal hypoplasia/aplasia, Cleft palate, Micr... ORPHA:1926
Chromosome 15Q25 Deletion Syndrome
Cleft upper lip, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Cleft palat... OMIM:614294
Trisomy 4P
Radial club hand, Camptodactyly of finger, Hypospadias, Abnormality of the dentition, Carious tee... ORPHA:1738
Nephrotic Syndrome, Type 11
High palate, Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Cleft palate... OMIM:616730
Pierpont Syndrome
Short toe, Cryptorchidism, Prominent fingertip pads, Micropenis, Prominent median palatal raphe, ... OMIM:602342
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Atrial septal defect, Congenital diaphragmatic hernia, Cleft palate, Postaxial pol... OMIM:616546
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Nephroblastoma, Syndactyly, Polydactyly, Ventricular septal defect, Microphthalmia... OMIM:602501
Biliary Atresia, Extrahepatic
Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary... OMIM:210500
Coach Syndrome 1
Wide mouth, Hepatomegaly, Nephronophthisis, Intrahepatic bile duct dilatation, Unilateral renal a... OMIM:216360
Cousin Syndrome
Hydrocephalus, Cleft palate, Rhizomelia, Absent proximal finger flexion creases, Microphthalmia, ... OMIM:260660
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Decreased liver function, Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Cholestasis, Progressive Familial Intrahepatic, 3
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic... OMIM:602347
Trisomy 1Q
Anal atresia, Hydrocephalus, Narrow mouth, Congenital diaphragmatic hernia, Cleft palate, Congeni... ORPHA:261344
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Gallbladder Disease 1
Cholelithiasis, Pancreatitis, Cholestasis, Cholecystitis, Elevated hepatic transaminase, Hepatic ... OMIM:600803
Trisomy 13
Ectrodactyly, Atrial septal defect, High, narrow palate, Cleft palate, Abnormality of the dentiti... ORPHA:3378
Solitary Median Maxillary Central Incisor
Cleft upper lip, Decreased response to growth hormone stimulation test, Prominent median palatal ... OMIM:147250
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
High palate, Supernumerary nipple, Micropenis, Atrioventricular canal defect, Short philtrum, Lon... OMIM:618929
Holoprosencephaly 9
Hydrocephalus, Cleft palate, Short philtrum, Solitary median maxillary central incisor, Microphth... OMIM:610829
Pallister-Hall Syndrome
Cleft palate, Atrioventricular canal defect, Ventricular septal defect, Thyroid hypoplasia, Umbil... ORPHA:672
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Accessory oral frenulum, Prea... ORPHA:2756
Carpenter Syndrome 1
High palate, Aplasia/Hypoplasia of the middle phalanges of the toes, Ventricular septal defect, G... OMIM:201000
Orofaciodigital Syndrome Xvii
High, narrow palate, Micropenis, Partial duplication of thumb phalanx, Short middle phalanx of th... OMIM:617926
Bardet-Biedl Syndrome 16
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Renal insufficiency OMIM:615993
Jacobsen Syndrome
Annular pancreas, U-Shaped upper lip vermilion, Hydrocephalus, Clinodactyly of the 5th finger, At... OMIM:147791
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Microphthalmia OMIM:614830
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hydrocephalus, Hepatomegaly, Atrioventricular canal defect, Elevated circulating aspartate aminot... OMIM:619534
Verheij Syndrome
Abnormal cardiac septum morphology, Renal agenesis, Short 5th finger, Long philtrum, Renal cyst, ... OMIM:615583
Microphthalmia With Limb Anomalies
High palate, Hydrocephalus, Cleft palate, Macrodontia, True anophthalmia, Abnormality of the uppe... ORPHA:1106
Cardiac-Urogenital Syndrome
Enlarged kidney, Ventricular septal defect, Patent urachus, Unilateral cryptorchidism, Hepatopulm... OMIM:618280
Braddock-Carey Syndrome 1
U-Shaped upper lip vermilion, Talipes equinovarus, Cleft palate, Everted lower lip vermilion, Sma... OMIM:619980
Ivic Syndrome
Absent thumb, Limited interphalangeal movement, Hypoplasia of the radius, Short 1st metacarpal, U... OMIM:147750
Acrorenal-Mandibular Syndrome
Absent nipple, Aplasia of the bladder, High palate, Narrow palate, Congenital diaphragmatic herni... OMIM:200980
Joubert Syndrome With Ocular Defect
Hydrocephalus, Aganglionic megacolon, Cleft palate, Oral cleft, Dextrocardia, Hand polydactyly, E... ORPHA:220493
1Q41Q42 Microdeletion Syndrome
Talipes equinovarus, Congenital diaphragmatic hernia, Cleft palate, Holoprosencephaly, Thick verm... ORPHA:250999
Proximal 16P11.2 Microdeletion Syndrome
Atrial septal defect, Congenital diaphragmatic hernia, Cleft palate, Multicystic kidney dysplasia... ORPHA:261197
Tetrasomy 9P
High palate, Abnormal mitral valve morphology, Abnormal cardiac septum morphology, Hydrocephalus,... ORPHA:3310
Galloway-Mowat Syndrome 7
High palate, Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Cleft palate... OMIM:618348
Joubert Syndrome 14
Hydrocephalus, Postaxial polydactyly, Open mouth, Short philtrum, Renal cyst, Tented upper lip ve... OMIM:614424
Carpenter Syndrome
Talipes equinovarus, Brachydactyly, Polydactyly, Syndactyly, Postaxial hand polydactyly, Genu val... ORPHA:65759
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Atrial septal defect, Intestinal malrotation, Brachydactyly, Long philtru... ORPHA:401935
Phelan-Mcdermid Syndrome
High palate, Dental malocclusion, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Abnormality... OMIM:606232
Chromosome 13Q33-Q34 Deletion Syndrome
High palate, Distally placed thumb, Cutaneous syndactyly, Short philtrum, Anencephaly, Delayed er... OMIM:619148
X-Linked Intellectual Disability, Siderius Type
Cleft upper lip, Oral cleft, Large hands, Decreased testicular size, Cryptorchidism, Preaxial han... ORPHA:85287
Spondylocostal Dysostosis 4, Autosomal Recessive
Situs inversus totalis, Dextrocardia, Spina bifida occulta, Myelomeningocele OMIM:613686
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... OMIM:607941
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia affecting the eye, Wide mouth, Ectopic anus, Distal urethral duplication, Rena... ORPHA:2549
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Cat Eye Syndrome
Tricuspid atresia, Cleft palate, Biliary atresia, Ventricular septal defect, Horseshoe kidney, Um... OMIM:115470
8P23.1 Duplication Syndrome
Pulmonic stenosis, Long philtrum, Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis,... ORPHA:251076
Hydrolethalus Syndrome 2
Hydrocephalus, Cleft palate, Anencephaly, Postaxial hand polydactyly, Postaxial foot polydactyly,... OMIM:614120
Syndromic Diarrhea
Bicuspid aortic valve, Colitis, Atrial septal defect, Hepatomegaly, Hepatoblastoma, Splenomegaly,... ORPHA:84064
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Micropenis, Muscular dystrophy, Anencephaly, Renal dysplasia, Renal cyst, Hydronep... OMIM:615287
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase concentration, Sclerosin... OMIM:619662
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Hydrocephalus, Metaphyseal... OMIM:300863
3Mc Syndrome 3
Cleft upper lip, Diastasis recti, Cleft palate, Micropenis, Preaxial polydactyly, Radioulnar syno... OMIM:248340
Moebius Syndrome
High palate, Facial diplegia, Talipes equinovarus, Microphthalmia, Micropenis, Abnormality of the... OMIM:157900
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Myocardial fibrosis, Hydrocephalus, Atrial septal defect, Flexion contracture, Holoprosencephaly,... OMIM:253800
Joubert Syndrome 16
Renal cyst, Encephalocele, Polydactyly, Nephronophthisis OMIM:614465
Preaxial Hallucal Polydactyly
Preaxial foot polydactyly, Preaxial hand polydactyly OMIM:601759
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Death in childhood, Ventricular septal defect, Elevated circulating alanine aminotransferase conc... OMIM:613759
Adams-Oliver Syndrome 6
Splenomegaly, Brachydactyly, Syndactyly, Ventricular septal defect, Renal hypoplasia, Hepatic fib... OMIM:616589
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Hypoplastic left heart, Cleft palate, Anencephaly, Ventricular septal defect, Aplas... ORPHA:2476
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Renal tubular acidosis, Hepatomegaly, Renal dysplasia, Renal cyst, Rena... OMIM:614922
D-Bifunctional Protein Deficiency
High palate, Talipes equinovarus, Hepatomegaly, Splenomegaly, Long philtrum, Cholestasis, Hammert... OMIM:261515
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Cleft palate, Short philtrum, Ventricular septal defect, Single transverse palmar... ORPHA:464738
Craniotelencephalic Dysplasia
Hydrocephalus, Arrhinencephaly, Septo-optic dysplasia, Microphthalmia, Frontal encephalocele ORPHA:1528
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Cystic renal dysplasia, Micromelia, Hypopla... OMIM:200995
H Syndrome
Cleft upper lip, Hydrocephalus, Malabsorption, Gingival overgrowth, Micropenis, Abnormality of th... ORPHA:168569
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal cardiac septum morphology, Hydrocephalus, Narrow mouth, Ventricular septal defect, Posta... ORPHA:83473
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Renal tubular acidosis, Aminoaciduria, Hepatomegaly, Right ventricular hype... OMIM:613404
Floating-Harbor Syndrome
Wide mouth, Celiac disease, Short philtrum, Microdontia, Broad fingertip, Carious teeth, Humeral ... ORPHA:2044
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Dextrocardia, Absent outer dynein arms OMIM:615067
Faciothoracogenital Syndrome
Glandular hypospadias, Long philtrum, Microphthalmia, Thin upper lip vermilion, Smooth philtrum OMIM:227320
Acrocallosal Syndrome
High palate, Abnormal cardiac septum morphology, Wide mouth, Triangular mouth, Cleft palate, Shor... OMIM:200990
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Frontal encephalocele, Arrhinencephaly, Microphthalmia OMIM:218670
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Spinal Muscular Atrophy, Type I
Atrial septal defect, Proximal muscle weakness in lower limbs, Death in childhood, Spinal muscula... OMIM:253300
Microphthalmia With Limb Anomalies
Tibial bowing, Talipes equinovarus, Hand oligodactyly, Camptodactyly of 2nd-5th fingers, Anophtha... OMIM:206920
Oculofaciocardiodental Syndrome
Abnormal cardiac septum morphology, Cleft palate, Abnormality of the dentition, Delayed eruption ... ORPHA:2712
Halperin-Birk Syndrome
High palate, Talipes equinovarus, Congenital diaphragmatic hernia, Flexion contracture, Death in ... OMIM:618651
Hydrolethalus
Hydrocephalus, Cleft palate, Gingival cleft, Micromelia, Anencephaly, Arrhinencephaly, Anophthalm... ORPHA:2189
Kaposiform Lymphangiomatosis
Abnormality of femur morphology, Pancreatic cysts, Splenomegaly, Fractures of the long bones, Abn... ORPHA:464329
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Elevated circulating aspartate aminotransferase c... ORPHA:79302
Ogden Syndrome
Hydrocele testis, High palate, Abnormality of the dentition, Short philtrum, Congenital hip dislo... OMIM:300855
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Fanconi Anemia, Complementation Group I
Atrial septal defect, Decreased response to growth hormone stimulation test, Absent thumb, Hypopl... OMIM:609053
Meckel Syndrome, Type 9
Limb undergrowth, Multicystic kidney dysplasia, Occipital encephalocele, Talipes equinovarus OMIM:614209
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect OMIM:606217
Microphthalmia, Syndromic 2
Contracture of the proximal interphalangeal joint of the 3rd toe, Radiculomegaly, Delayed eruptio... OMIM:300166
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Anal atresia, Hydrocephalus, Aortic valve stenosis, Atrial septal ... OMIM:220210
Joubert Syndrome 18
Ventricular septal defect, Horseshoe kidney, Polydactyly, Camptodactyly OMIM:614815
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of penis, Aplasia/Hypoplasia of the fibula, Aplasia of the proximal phalanges of the h... ORPHA:2256
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Hydrocephalus, Absent tibia, Absent radius, Preaxial hand polydactyly,... ORPHA:2378
Orofaciodigital Syndrome Xiv
Atrial septal defect, Supernumerary tooth, Cleft palate, Postaxial polydactyly, Holoprosencephaly... OMIM:615948
Alagille Syndrome 2
Cholestatic liver disease, Renal tubular acidosis, Atrial septal defect, Pulmonic stenosis, Hemat... OMIM:610205
Peroxisome Biogenesis Disorder 5A (Zellweger)
Talipes equinovarus, Hepatomegaly, Cleft palate, Splenomegaly, Hepatosplenomegaly, Intrahepatic b... OMIM:614866
Feingold Syndrome 2
3-4 toe syndactyly, 2-3 toe syndactyly, Intestinal atresia, Short middle phalanx of the 2nd finge... OMIM:614326
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
High palate, Ketonuria, Hepatomegaly, Single transverse palmar crease, Renal hypoplasia, Micropht... OMIM:619053
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Myopathy, Holoprosencephaly ORPHA:588
Isolated Biliary Atresia
Decreased liver function, Dark yellow urine, Hepatomegaly, Periportal fibrosis, Splenomegaly, Cir... ORPHA:30391
Mosaic Variegated Aneuploidy Syndrome
Duodenal atresia, Clinodactyly of the 5th finger, Atrial septal defect, Cleft palate, Holoprosenc... ORPHA:1052
Pierpont Syndrome
Short toe, Long upper lip, Prominent fingertip pads, Everted lower lip vermilion, Thin vermilion ... ORPHA:487825
Iniencephaly
Myelomeningocele, Anal atresia, Hydrocephalus, Narrow mouth, Talipes equinovarus, Duodenal atresi... ORPHA:63259
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Cleft palate, Congenital hip dislocation, Anophthalmia, Microphthalmia, Cr... OMIM:164180
Focal Dermal Hypoplasia
Abnormal cardiac septum morphology, Abnormality of the dentition, Ventricular septal defect, Hypo... ORPHA:2092
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Atrial septal defect, Renal tubular acidosis, Aminoaciduria, Right ventricu... OMIM:208085
Feingold Syndrome Type 2
Brachydactyly, Ventricular septal defect, Short middle phalanx of finger, Jejunal atresia, Short ... ORPHA:391646
Nanophthalmos
Microphthalmia ORPHA:35612
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Adducted thumb, Holoprosencephaly, Agenesis of corpus callosum ORPHA:2182
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, 1-2 toe complete cutaneous syndactyly, Preaxial foot polydactyly, Br... OMIM:186350
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular septal defe... OMIM:613751
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease OMIM:610688
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Camptodactyly of finger, Brachydac... ORPHA:1937
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia, Congenital pseudoarthrosis of the clavicle ORPHA:66630
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Abnormality of the dentition, Multicystic kidney dysplasia, Carious teeth, Radioulnar synostosis,... ORPHA:3270
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele, Microphthalmia ORPHA:324416
Campomelia, Cumming Type
Aplasia/Hypoplasia affecting the eye, Hepatomegaly, Cleft palate, Multicystic kidney dysplasia, B... ORPHA:1318
14Q11.2 Microdeletion Syndrome
High palate, Narrow mouth, Toe clinodactyly, Everted lower lip vermilion, Long philtrum, Ventricu... ORPHA:261120
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Short philtrum, Ventricular septal defect, Downturned corners of mouth, Rhizomelia, Abnormal epip... ORPHA:93267
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Atrial septal defect, Hepatomegaly, Postaxial polydactyly, Unilateral renal agenes... OMIM:614576
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hydrocephalus, Nephrotic syndrome, Atrial septal defect, Macroglossia, Flexion contracture, Deep ... ORPHA:505248
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Interphalangeal joint contracture of finger, Long philtrum, Knee flexion contracture, Thin upper ... OMIM:606242
Congenital Varicella Syndrome
Micromelia, Microphthalmia ORPHA:291
Suleiman-El-Hattab Syndrome
High palate, Wide mouth, Atrial septal defect, Brachydactyly, Polydactyly, Long philtrum, Ventric... OMIM:618950
Charge Syndrome
Cleft palate, Tracheoesophageal fistula, Down-sloping shoulders, Ventricular septal defect, Hypop... OMIM:214800
Prune Belly Syndrome
Abnormality of the ureter, Congenital hip dislocation, Aplasia of the abdominal wall musculature,... ORPHA:2970
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Dextrocardia, Absent inner and outer dynein arms OMIM:618063
Limb Body Wall Complex
Hydrocephalus, Cleft palate, Aplasia of the proximal phalanges of the hand, Anencephaly, Ventricu... ORPHA:2369
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Cleft palate, Ureteral stenosis, Dextrocardia, Abnormal hemidiaphr... ORPHA:2257
Mckusick-Kaufman Syndrome
High palate, Cleft palate, Ventricular septal defect, Ectopic anus, Anal atresia, Tetralogy of Fa... ORPHA:2473
Vater/Vacterl Association
Hypoplasia of the radius, Tracheoesophageal fistula, Radioulnar synostosis, Ventricular septal de... OMIM:192350
Xk Aprosencephaly Syndrome
Anal atresia, Narrow mouth, Atrial septal defect, Abnormal morphology of the radius, Ventricular ... ORPHA:3469
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Hematuria, Cleft palate, Microphthalmia OMIM:120433
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Congenital Toxoplasmosis
Hydrocephalus, Hepatomegaly, Elevated hepatic transaminase, Microphthalmia, Jaundice, Cardiomegaly ORPHA:858
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... ORPHA:93108
Renal Tubular Dysgenesis
Nephropathy, Bilateral single transverse palmar creases, Multiple renal cysts, Tetralogy of Fallo... ORPHA:3033
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... OMIM:601331
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Acetabular spurs, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Pancreatic fibrosi... OMIM:615503
15q26 overgrowth syndrome
High palate, Abnormality of finger, Abnormality of toe, Arachnodactyly, Renal agenesis, Camptodac... DECIPHER:81
Hydrolethalus Syndrome 1
Cleft palate, Anencephaly, Upper limb undergrowth, Ventricular septal defect, Microphthalmia, Tal... OMIM:236680
Cat-Eye Syndrome
Anal atresia, Renal hypoplasia/aplasia, Abnormal localization of kidney, Hydronephrosis, Micropht... ORPHA:195
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Renal hypoplasia/aplasia, Cleft palate, Abnormality of the ureter, Bilateral single transverse pa... ORPHA:1770
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Orofaciodigital Syndrome V
High palate, Aganglionic megacolon, Hypodontia, Cleft palate, Postaxial polydactyly, Unilateral c... OMIM:174300
Isolated Polycystic Liver Disease
Polycystic liver disease, Hepatomegaly, Multiple renal cysts, Abnormality of the pancreas ORPHA:2924
Joubert Syndrome 7
Nephronophthisis, Postaxial polydactyly, Postaxial hand polydactyly, Genu valgum, Renal cyst, Enc... OMIM:611560
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Hyper... OMIM:618719
Holoprosencephaly 13, X-Linked
Double outlet right ventricle, Duodenal atresia, Alobar holoprosencephaly, Hypoplastic left heart... OMIM:301043
Fryns Syndrome
Wide mouth, Prominent fingertip pads, Cleft palate, Ventricular septal defect, Single transverse ... OMIM:229850
3P25.3 Microdeletion Syndrome
Cleft palate, 2-3 finger syndactyly, Short philtrum, Tapered finger, Ventricular septal defect, B... ORPHA:435638
Nephronophthisis 20
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease OMIM:617271
Fetal Minoxidil Syndrome
Ventricular septal defect, Cryptorchidism, Clinodactyly of the 5th finger, Umbilical hernia ORPHA:1918
1Q21.1 Microdeletion Syndrome
High palate, Abnormal cardiac septum morphology, Hydrocephalus, Clinodactyly of the 5th finger, T... ORPHA:250989
Pancreatic Agenesis-Holoprosencephaly Syndrome
High palate, Holoprosencephaly, Pancreatic aplasia, Absent gallbladder, Aplasia/Hypoplasia of the... ORPHA:556955
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Asplenia OMIM:618948
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Short distal phalanx of finger, Increased urine alpha-ketoglutarate concentration, High palate, C... OMIM:220500
Burn-Mckeown Syndrome
Cleft upper lip, Narrow mouth, 2-3 toe syndactyly, Atrial septal defect, Cleft palate, Unilateral... OMIM:608572
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Polycystic liver disease, Renal cyst OMIM:174050
Pelvis-Shoulder Dysplasia
Short clavicles, Clinodactyly of the 5th finger, Hypoplastic ilia, Congenital hip dislocation, Sp... OMIM:169550
Diaphanospondylodysostosis
Myelomeningocele, Narrow pelvis bone, Multiple renal cysts, Cleft palate ORPHA:66637
Pelvis-Shoulder Dysplasia
Hydrocephalus, Cleft palate, Absent proximal finger flexion creases, Talipes equinovarus, Aplasia... ORPHA:2839
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Glycogen Storage Disease Ib
Nephrolithiasis, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, Splenomegaly, ... OMIM:232220
3C Syndrome
Abnormal mitral valve morphology, Hydrocephalus, Cleft palate, Atrioventricular canal defect, Ven... ORPHA:7
Teebi-Shaltout Syndrome
Wide mouth, Cleft palate, Ventricular septal defect, Single transverse palmar crease, Horseshoe k... OMIM:272950
Kapur-Toriello Syndrome
Cleft upper lip, Atrial septal defect, Joint contracture of the hand, Microphthalmia, Micropenis,... OMIM:244300
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus, Metaphyseal cupping of metacarpals, Abnormality of the calcaneus, Rhizomelia, Hypo... ORPHA:163966
Holoprosencephaly 3
Cleft palate, Holoprosencephaly, Bifid uvula, Cleft lip, Solitary median maxillary central inciso... OMIM:142945
Tyrosinemia, Type I
Paralytic ileus, Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Acute hepatic failure, H... OMIM:276700
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial ... ORPHA:1120
Mend Syndrome
Overlapping toe, Hydrocephalus, 2-3 toe syndactyly, Overlapping fingers, Polydactyly, Long fingers OMIM:300960
Nephronophthisis 15
Polydactyly, Nephronophthisis, Hepatic failure OMIM:614845
Hadziselimovic Syndrome
High palate, Anal atresia, U-Shaped upper lip vermilion, Atrial septal defect, Tetralogy of Fallo... OMIM:612946
Holoprosencephaly 7
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Panhypopituitarism, Partial agenesis ... OMIM:610828
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated hepatic trans... OMIM:613027
Sonoda Syndrome
Ventricular septal defect, Narrow mouth, High axial triradius OMIM:270460
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
2-3 toe syndactyly, Joint contracture of the 4th finger, Pulmonic stenosis, Small thenar eminence... OMIM:618914
Charge Syndrome
Abnormal cardiac septum morphology, Cleft palate, Tracheoesophageal fistula, Delayed eruption of ... ORPHA:138
Retinitis Pigmentosa 89
Bicuspid aortic valve, Micronodular cirrhosis, Intrahepatic bile duct dilatation, Postaxial polyd... OMIM:618955
Glycogen Storage Disease Ia
Nephrolithiasis, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, Hepatocellular... OMIM:232200
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Gingival overgrowth, Clinodactyly of the 5th finger, Atrial septal... OMIM:179613
Fryns Syndrome
High palate, Abnormal cardiac septum morphology, Wide mouth, Cleft palate, Tented upper lip vermi... ORPHA:2059
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Cleft palate, Unilateral renal agenesis, Renal dysplasia, Polycystic kidney d... ORPHA:2237
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
2-3 toe syndactyly, Cleft palate, Postaxial polydactyly, Intestinal malrotation, Broad distal pha... ORPHA:404440
Joubert Syndrome 22
2-3 toe syndactyly, Postaxial hand polydactyly, Renal hypoplasia, Postaxial foot polydactyly, Mic... OMIM:615665
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Orofaciodigital Syndrome Xv
Postaxial polydactyly, Lobulated tongue, Broad hallux, Hydronephrosis, Agenesis of corpus callosum OMIM:617127
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie... ORPHA:90301
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Atrial septal defect, Everted lower lip vermilion, Pulmonic stenosis, Ventricular se... OMIM:249670
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Ventricular septal defect, Open mouth, Cryptorchi... OMIM:616816
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Anophthalmia, Hypoplastic left atrium, Ventricular septal defect... OMIM:615524
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Cleft upper lip, Cleft palate, Preaxial hand polydactyly OMIM:601420
Say Syndrome
Short distal phalanx of finger, Cleft palate, Ulnar deviation of the 3rd finger, Proximal renal t... OMIM:181180
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, High palate, Anomalous pulmonary venous return, Atrial septal defe... OMIM:619657
Axial Mesodermal Dysplasia Spectrum
Anal atresia, Hydrocephalus, Renal hypoplasia/aplasia, Gingival overgrowth, Congenital diaphragma... ORPHA:1834
Brachydactyly, Type B1
Joint contracture of the hand, Micropenis, Syndactyly, Type B brachydactyly, Aplasia/Hypoplasia o... OMIM:113000
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Mesomelic/rhizomelic limb shortening, Ven... ORPHA:1354
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Multiple joint contractures, Narrow mouth, Duodenal atresia, Ankle flexion contracture, Unilatera... ORPHA:468631
Carpenter Syndrome 2
High palate, Carious teeth, Single transverse palmar crease, Umbilical hernia, Bilateral cryptorc... OMIM:614976
Intellectual Developmental Disorder, Autosomal Recessive 73
Thick upper lip vermilion, Clinodactyly of the 5th finger, Ventricular septal defect, Deep philtr... OMIM:619717
C Syndrome
High palate, Dislocated radial head, Wide mouth, Accessory oral frenulum, Renal cortical cysts, H... OMIM:211750
Igg4-Related Kidney Disease
Abnormal ureter morphology, Pancreatitis, Urethritis, Ureteral obstruction, Hematuria, Renal inte... ORPHA:449395
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Dextrocardia, Abnormal respiratory motile cilium morphology OMIM:614679
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, High palate, Abnormality of the tongue, Cleft palate, Pulmonic st... ORPHA:3098
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad phalanx, Exocrine pancreatic insufficiency, Atrioventricular canal defect, Ventricular sept... ORPHA:508498
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Diastasis recti, Renal cortical cysts, Hepatomegaly, Hepatoblastoma, Macroglossi... OMIM:130650
Senior-Loken Syndrome 9
Nephronophthisis, Hypoplasia of the femoral head, Polydactyly, Cholestasis, Tubulointerstitial ne... OMIM:616629
Craniosynostosis With Anomalies Of The Cranial Base And Digits
Absent thumb, Absent middle phalanx of 2nd finger, Proximal placement of hallux, Proximal placeme... OMIM:218530
Curry-Jones Syndrome
Abnormality of thumb phalanx, Preaxial hand polydactyly, Broad thumb, Microphthalmia, Foot polyda... ORPHA:1553
Joubert Syndrome 37
High palate, Hepatomegaly, Microphthalmia, Micropenis, Postaxial polydactyly, Decreased testicula... OMIM:619185
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Microphthalmia OMIM:614082
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Overlapping toe, Atrial septal defect, Hypospadias, Cutaneous synd... OMIM:618316
Holoprosencephaly 14
Double outlet right ventricle, Hydrocephalus, Alobar holoprosencephaly, Aqueductal stenosis, Aort... OMIM:619895
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Duodenal stenosis, Hypoplasia of penis, Abnormality of the upper urinary tract, Hydroureter, Camp... ORPHA:2547
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatomegaly, Micronodular cirrhosis, Microvesicular hepatic steatosis, Hepatic failure, Elevated... OMIM:203700
Adams-Oliver Syndrome
Abnormal pulmonary valve morphology, Short distal phalanx of finger, Hydrocephalus, Absent hand, ... ORPHA:974
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Hip dislocation, Bilateral microphthalmos OMIM:608763
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
High palate, Hypoplasia of the radius, Hypoplasia of the ulna, Horseshoe kidney, Microphthalmia, ... OMIM:609945
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia, Goiter OMIM:617577
Codas Syndrome
Hydroureter, Congenital hip dislocation, Brachydactyly, Delayed eruption of teeth, Ventricular se... ORPHA:1458
Roifman Syndrome
Hip contracture, Short toe, Clinodactyly of the 5th finger, Hepatomegaly, Splenomegaly, Brachydac... OMIM:616651
Dihydropyrimidine Dehydrogenase Deficiency
Agenesis of corpus callosum, Uraciluria, Microphthalmia OMIM:274270
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Clinodactyly of the 5th finger, Glossoptosis, Multicystic kidney dysplasia, Congenital hepatic fi... ORPHA:2031
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Macrovesicular hepatic steatosis, Elevated hepatic transaminase, 3-Meth... OMIM:618329
Microcephaly-Cardiomyopathy Syndrome
Clinodactyly of the 5th finger, High, narrow palate, Ventricular septal defect, Dilated cardiomyo... ORPHA:2515
Mohr Syndrome
High palate, Hydrocephalus, Cleft palate, Lobulated tongue, Tongue nodules, Partial duplication o... OMIM:252100
Developmental Delay With Or Without Dysmorphic Facies And Autism
Abnormal cardiac septum morphology, Wide mouth, Clinodactyly of the 5th finger, Supernumerary nip... OMIM:618454
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Dextrocardia, Absent outer dynein arms OMIM:616037
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot, Split foot OMIM:601348
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Dextrocardia OMIM:615482
Congenital Rubella Syndrome
Atrial septal defect, Hepatomegaly, Splenomegaly, Ventricular septal defect, Microphthalmia, Abno... ORPHA:290
Cystic Echinococcosis
Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Ovarian cyst, Abnormalit... ORPHA:400
Baraitser-Winter Syndrome 1
Cleft upper lip, Wide mouth, Bicuspid aortic valve, Aortic valve stenosis, Micropenis, Long philt... OMIM:243310
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Abnormality of the kidney, Cystic renal dysplasia, Ectopic kidney, Cryptorchidism OMIM:613730
8Q12 Microduplication Syndrome
Narrow mouth, Atrial septal defect, Everted lower lip vermilion, Long philtrum, Ventricular septa... ORPHA:228399
Beckwith-Wiedemann Syndrome
Wide mouth, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatoblastoma, Cleft palate, Enlarg... ORPHA:116
Chromosome 16P13.3 Duplication Syndrome
Short toe, Atrial septal defect, Short phalanx of finger, Tapered finger, Long fingers, Ventricul... OMIM:613458
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis, Hypo... OMIM:613001
Microphthalmia, Syndromic 8
Cleft upper lip, Cleft palate, Split foot, Oral cleft, Widely-spaced maxillary central incisors, ... OMIM:601349
Autosomal Recessive Robinow Syndrome
Wide mouth, Abnormality of the dentition, Short philtrum, Ventricular septal defect, Sandal gap, ... ORPHA:1507
Mckusick-Kaufman Syndrome
Anal atresia, Vesicovaginal fistula, Mesoaxial hand polydactyly, Hydroureter, Congenital hip disl... OMIM:236700
Seckel Syndrome 2
Clinodactyly of the 5th finger, Hypospadias, Microdontia, Ectopic kidney, Microphthalmia, Microgl... OMIM:606744
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Drumstick terminal phalanges, Alveolar ridge overgrowth, Hydrocephalus, Cleft palate, Thin vermil... OMIM:612938
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Tibial Hemimelia