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 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

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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
Brachydactyly, Type C
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... OMIM:113100
Syndactyly Type 2
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... ORPHA:93403
Meckel Syndrome, Type 4
Atrial septal defect, Postaxial hand polydactyly, Ventricular septal defect, Hypoplasia of the co... OMIM:611134
Gombo Syndrome
Clinodactyly, Brachydactyly, Microphthalmia, Radial deviation of finger OMIM:233270
Syndactyly, Type Iv
6 metacarpals, Polydactyly, 2-3 toe syndactyly, 1-5 finger syndactyly, Supernumerary metacarpal b... OMIM:186200
Synpolydactyly 1
6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph... OMIM:186000
Meckel Syndrome, Type 2
Postaxial hand polydactyly, Polydactyly, Bowing of the long bones, Anencephaly, Meningocele, Rena... OMIM:603194
Nephronophthisis 16
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Cholestasis, Hepatic fibrosis, Pulmoni... OMIM:615382
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Preaxial hand polydactyly, Duplication... OMIM:174500
Meckel Syndrome, Type 3
Postaxial hand polydactyly, Polydactyly, Malformation of the hepatic ductal plate, Postaxial foot... OMIM:607361
Congenital Absence Of Upper Arm And Forearm With Hand Present
Stillbirth, Upper limb phocomelia, Abnormal heart morphology, Polydactyly, Syndactyly, Abnormal h... ORPHA:294975
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Triploidy
Cryptorchidism, Macroglossia, Aplasia/Hypoplasia of the corpus callosum, Narrow mouth, Finger syn... ORPHA:3376
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Stillbirth, Enlarged kidney, Cystic renal dysplasia, ... OMIM:615415
Meckel Syndrome, Type 6
Postaxial hand polydactyly, Hand polydactyly, Anencephaly, Hepatic fibrosis, Cystic liver disease... OMIM:612284
Femoral-Facial Syndrome
Hip dysplasia, Cryptorchidism, Long philtrum, Short femur, Aplasia/Hypoplasia of the corpus callo... ORPHA:1988
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Postaxial polydactyly, Short distal phalanx of finger, Flat acetabular roof, High pa... OMIM:614091
Short Stature-Wormian Bones-Dextrocardia Syndrome
Cryptorchidism, Delayed eruption of teeth, Camptodactyly of finger, Midshaft hypospadias, Abnorma... ORPHA:2863
Pseudotrisomy 13 Syndrome
Cryptorchidism, Dextrocardia, Micropenis, Hydrocephalus, Postaxial hand polydactyly, Complete atr... OMIM:264480
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Thin upper lip vermilion, Hypoplastic ischia, Syndac... OMIM:617866
Orofaciodigital Syndrome I
Enamel hypoplasia, Carious teeth, Tongue nodules, Polydactyly, Lobulated tongue, Alveolar ridge o... OMIM:311200
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Recurrent urinary tract infections, Jaundice, Hypersplenism, Renal insuffici... ORPHA:731
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Dextrocardia, Spina bifida occulta, High palate, Ectrodactyly, Hydrocephal... ORPHA:2437
Meckel Syndrome, Type 5
Postaxial hand polydactyly, Bowing of the long bones, Abnormality of the urinary system, Anenceph... OMIM:611561
Orofaciodigital Syndrome Xviii
Genu valgum, Short philtrum, Short middle phalanx of finger, Diastema, Preaxial polydactyly, Post... OMIM:617927
Polydactyly, Postaxial, Type A1
Postaxial hand polydactyly, Broad thumb, Preaxial polydactyly, Syndactyly, Triphalangeal thumb OMIM:174200
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Narrow palate, Tapered toe, Macrovesicular hepatic steatosis, Long toe, Cardiomegaly, Renal insuf... OMIM:608836
Pallister-Hall Syndrome
Cryptorchidism, Y-shaped metacarpals, Hydroureter, Natal tooth, Mesoaxial foot polydactyly, Decre... OMIM:146510
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Nephronophthisis, Abnormality of long bone morphology, Polydactyly, In... ORPHA:1505
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Biliary Malformation With Renal Tubular Insufficiency
Talipes equinovarus, Renal tubular dysfunction, Generalized aminoaciduria, Aminoaciduria, Biliary... OMIM:210550
Bardet-Biedl Syndrome 17
Situs inversus totalis, Mesoaxial polydactyly, Polydactyly, Dextrocardia, Renal cyst, Stage 5 chr... OMIM:615994
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... ORPHA:3269
Holoprosencephaly 5
Semilobar holoprosencephaly, Holoprosencephaly, High palate, Deep philtrum, Alobar holoprosenceph... OMIM:609637
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping fingers, Atrial septal defect, Ventricular septal defect, High palate, Preaxial polyd... OMIM:618142
Distal Monosomy 13Q
Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Renal hypoplasia/aplasia, Anencepha... ORPHA:1590
Acrocephalopolysyndactyly Type Iv
Hand polydactyly, Camptodactyly, Radial deviation of finger, Clinodactyly, Syndactyly, Ulnar devi... OMIM:201020
Endocrine-Cerebroosteodysplasia
Cryptorchidism, Polydactyly, Natal tooth, Postaxial polydactyly, Sandal gap, Ulnar deviation of t... OMIM:612651
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Abnormal heart morphology, Enlarged kidney, Nephropathy, ... ORPHA:85445
Odontochondrodysplasia 1
Nephronophthisis, Short phalanx of finger, Flared iliac wing, Death in infancy, Flat acetabular r... OMIM:184260
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Congenital Disorder Of Glycosylation, Type Il
Long philtrum, Pericardial effusion, Wide mouth, Hepatomegaly, Hip dislocation, Polycystic kidney... OMIM:608776
Distal Monosomy 7Q36
Cryptorchidism, Holoprosencephaly, Wide mouth, Non-midline cleft lip, Bilateral single transverse... ORPHA:1636
Santos Syndrome
Oligodactyly, Genu valgum, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Metatarsus a... OMIM:613005
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hand polydactyly, Hydrocephalus, Enlarged kidney, Short humerus, Anal atresia, ... OMIM:314390
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Polydactyly, Brachydactyly OMIM:617405
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Aplasia/Hypoplasia of the corpus callosum, Ventricular septal defect, Fin... ORPHA:1908
Trisomy 17P
Narrow mouth, Oral cleft, Skeletal muscle atrophy, High palate, Hydrocephalus, Macroglossia, Flex... ORPHA:261290
Biemond Syndrome Type 2
Microphthalmia, Hypospadias, Preaxial polydactyly, Hydrocephalus ORPHA:141333
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Atrial septal defect, Enlarged kidney, Hepatic cysts, Pancreatic cysts, Polysplenia, B... OMIM:208540
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cryptorchidism, Narrow mouth, Overlapping toe, Contracture of the distal interphalangeal joint of... ORPHA:83617
Meckel Syndrome, Type 7
Atrial septal defect, Situs inversus totalis, Pancreatic cysts, Biliary cirrhosis, Cholestasis, M... OMIM:267010
RCAD (renal cysts and diabetes)
Multiple renal cysts, Abnormality of the liver DECIPHER:47
Mosaic Trisomy 9
Cryptorchidism, Elbow dislocation, Intestinal malrotation, Dextrocardia, High palate, Rocker bott... ORPHA:99776
Chromosome 1Q41-Q42 Deletion Syndrome
Cryptorchidism, Talipes equinovarus, Holoprosencephaly, Congenital diaphragmatic hernia, Micropht... OMIM:612530
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly, Bilateral microphthalmos, Oral cleft, Microphthalmia, Anophthalmia OMIM:611638
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Tubulointerstitial fibrosis, Enlarged kidney, Hepatic cysts, Pancreatic cyst... OMIM:263200
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Cubitus valgus, Abnormal heart morphology, Camptodactyly, Aminoaciduria, Intrahep... OMIM:214110
Microphthalmia, Isolated 4
Postaxial polydactyly, Microphthalmia OMIM:613094
Holoprosencephaly, Recurrent Infections, And Monocytosis
Cryptorchidism, Holoprosencephaly, Short finger, Micropenis, Short toe, Microcephaly, Brachydacty... OMIM:610680
Acalvaria
Spina bifida, Postaxial hand polydactyly, Holoprosencephaly, Cleft palate, Hydrocephalus ORPHA:945
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hamartoma of tongue, Intestinal malrotation, Postaxial polydactyly, Short digit, Femoral bowing, ... OMIM:613091
Meckel Syndrome, Type 1
Cryptorchidism, Hypoplasia of the bladder, Natal tooth, Intestinal malrotation, Anencephaly, Lobu... OMIM:249000
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Epiphyseal stippling, Polycystic kidney dysplasia OMIM:614859
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Cardiomegaly, Cerebral calcification, Renal insufficiency, High, narrow palate, ... ORPHA:228308
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Hepatic cysts, Recurrent urinary tract infections, Dextrocardia, Polycyst... OMIM:613095
Marden-Walker Syndrome
Cryptorchidism, Narrow mouth, Camptodactyly, Dextrocardia, High palate, High, narrow palate, Micr... OMIM:248700
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Cerebral c... ORPHA:2570
Nephronophthisis 14
Nephronophthisis, Situs inversus totalis, Polycystic kidney dysplasia OMIM:614844
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Pachygyria, Agenesis of corpus callosum, Cystic renal dysplasia, Renal tubular e... ORPHA:157
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal heart morphology, Periportal fibrosis, Flexion contracture, Smooth philtrum, Ulnar devia... OMIM:263210
Mmep Syndrome
Cryptorchidism, Ventricular septal defect, Oral cleft, Split foot, Microphthalmia, Microcephaly, ... ORPHA:3434
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hepatomegaly, ... OMIM:613496
Duane-Radial Ray Syndrome
Crossed fused renal ectopia, Optic disc hypoplasia, Sandal gap, Absent radius, Vesicoureteral ref... OMIM:607323
Short-Rib Thoracic Dysplasia 12
Natal tooth, Intestinal malrotation, Hamartoma of tongue, Anencephaly, Bowing of the legs, Lobula... OMIM:269860
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Villous atrophy, Cholelithiasis, Bil... ORPHA:567983
Branchiootorenal Syndrome 1
Renal malrotation, Congenital hip dislocation, Abnormal renal collecting system morphology, Branc... OMIM:113650
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Postaxial polysyndactyly of foot, Intestinal malrotation, Hamartoma of tongue, Pancreatic fibrosi... OMIM:263520
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Hyperechogenic kidneys OMIM:617610
Marden-Walker Syndrome
Arthrogryposis multiplex congenita, Narrow mouth, Hydroureter, Muscular dystrophy, Dextrocardia, ... ORPHA:2461
Polydactyly, Preaxial Iv
Preaxial polydactyly, 3-4 finger syndactyly, Dysplastic distal thumb phalanges with a central hol... OMIM:174700
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Hydrocephalus, Ventricular septal defect, Holoprosencephaly, Anophthalmia, Esopha... ORPHA:77298
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Abnormal tricuspid valve morphology, Intestinal malrotation, Hepatomegal... ORPHA:1759
Catel-Manzke Syndrome
Cryptorchidism, Talipes equinovarus, Ventricular septal defect, Camptodactyly, Ulnar deviation of... OMIM:616145
Ring Chromosome 21 Syndrome
Azoospermia, Abnormal heart morphology, Holoprosencephaly, Narrow palm, Clinodactyly, Syndactyly,... ORPHA:1445
Stromme Syndrome
Accessory spleen, Agenesis of corpus callosum, Stillbirth, Preaxial polydactyly, Intestinal malro... OMIM:243605
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Absent septum pellucidum, Ventricular septal defect, Holoprosencephaly, Foot oligoda... OMIM:601357
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Nephronophthisis, Macroglossia, Short phalanx of finger, High palate, Cone-shaped epiphysis, Wide... OMIM:266920
Trisomy 18
Cryptorchidism, Narrow palate, Narrow mouth, Anencephaly, Bilateral single transverse palmar crea... ORPHA:3380
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Anophthalmia, Microphthalmia, Cleft palate OMIM:221950
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Short phalanx of finger, Metaphyseal irregularity, Death in infancy, Pancreatic fibrosis, Jaundic... OMIM:208500
Meckel Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the tongue, Pancreatic fibrosis, Anencephaly, Anophthalmia,... ORPHA:564
Otopalatodigital Syndrome Type 2
Oligodontia, Tarsal synostosis, Narrow mouth, Flared iliac wing, Elbow dislocation, Abnormality o... ORPHA:90652
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Bardet-Biedl Syndrome 10
Polydactyly, Renal insufficiency, Renal cyst, Abnormality of the kidney OMIM:615987
Mucopolysaccharidosis-Plus Syndrome
Flared iliac wing, Macrovesicular hepatic steatosis, Acetabular dysplasia, Cerebral calcification... OMIM:617303
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short hallux, Overlapping fingers, Postaxial polydactyly, Adducted thumb, Short distal phalanx of... OMIM:618167
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Preaxial hand polydactyly, Stillbirth, Ventricular septal defect, Hepatic c... OMIM:263630
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Distal Trisomy 5Q
Cryptorchidism, Thin vermilion border, Carious teeth, Long philtrum, Narrow mouth, Hypoplasia of ... ORPHA:96097
Holoprosencephaly-Caudal Dysgenesis Syndrome
Radial club hand, Renal insufficiency, Holoprosencephaly, Abnormality of the radius, Abnormality ... ORPHA:2165
Meckel Syndrome, Type 11
Polydactyly, Polycystic kidney dysplasia OMIM:615397
Peroxisome Biogenesis Disorder 6A (Zellweger)
Epiphyseal stippling, Pachygyria, Hepatomegaly, Decreased liver function, Renal cyst, Colpocephaly OMIM:614870
Steinfeld Syndrome
Median cleft lip and palate, Hypoplasia of the radius, Abnormal heart morphology, Holoprosencepha... OMIM:184705
Ellis Van Creveld Syndrome
Cryptorchidism, Thin vermilion border, Hydroureter, Short distal phalanx of finger, Dextrocardia,... ORPHA:289
Hartsfield Syndrome
Aplasia/Hypoplasia of the corpus callosum, Split hand, Non-midline cleft lip, Aplasia/Hypoplasia ... ORPHA:2117
Bardet-Biedl Syndrome 6
Polydactyly, Hypospadias, Syndactyly, Renal cyst OMIM:605231
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cryptorchidism, Postaxial hand polydactyly, Aplasia/Hypoplasia of the corpus callosum, Narrow mou... ORPHA:2166
Hydrolethalus Syndrome 2
Hydrocephalus, Preaxial polydactyly, Postaxial polydactyly, Anencephaly, Cleft palate, Agenesis o... OMIM:614120
Nanophthalmos 4
Microphthalmia OMIM:615972
49,Xxxxy Syndrome
Open bite, Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Elbow dislocation, D... ORPHA:96264
8P Inverted Duplication/Deletion Syndrome
Cryptorchidism, Long philtrum, Small hypothenar eminence, Abnormal heart morphology, Aplasia/Hypo... ORPHA:96092
Peroxisome Biogenesis Disorder 8A (Zellweger)
Epiphyseal stippling, Ventricular septal defect, Death in infancy, Hepatomegaly, Jaundice, Glosso... OMIM:614876
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Arthrogryposis multiplex congenita, Stillbirth, Renal hypoplasia, 2-3 toe syndactyly, Brachydacty... OMIM:236500
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Abnormal muscle fiber morphology, Postaxial hand polydactyly, Broad thumb, 1-3 to... OMIM:175700
Chromosome 3Q13.31 Deletion Syndrome
Cryptorchidism, Short philtrum, Decreased testicular size, Alobar holoprosencephaly, High palate,... OMIM:615433
Multiple Acyl-Coa Dehydrogenase Deficiency
Pachygyria, Renal cortical cysts, Glutaric aciduria, Hepatic steatosis, Proximal tubulopathy, Gen... OMIM:231680
Nephronophthisis 19
Nephronophthisis, Cholestasis, Hepatic fibrosis, Hepatomegaly, Stage 5 chronic kidney disease, Sp... OMIM:616217
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypoplasia of the radius, Holoprosencephaly, Renal hypoplasia/aplasia, Hypoplasia of the ulna, Ab... ORPHA:3186
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral valve prolapse, Hepatic cysts, Polycystic kidney dysplasia, Colonic diverticula, Renal ins... OMIM:173900
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Papillary renal cell carcinoma, Recurrent pancreatitis, Renal cortical ade... OMIM:145001
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Holoprosencephaly 11
Holoprosencephaly, Polysplenia, Cleft lip, Cleft palate, Microcephaly, Agenesis of corpus callosum OMIM:614226
Distal Tetrasomy 15Q
Hydrocele testis, Abnormality of the kidney, Atrial septal defect, Horseshoe kidney, Abnormal hea... ORPHA:314588
Bardet-Biedl Syndrome 7
Polydactyly OMIM:615984
Bresek Syndrome
Cryptorchidism, Postaxial hand polydactyly, Hypoplasia of the bladder, Renal hypoplasia, Decrease... ORPHA:85284
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Postaxial hand polydactyly, Multinodular goiter, Preaxial foot polydactyly, Bilateral triphalange... OMIM:138790
Monosomy 18P
Carious teeth, Short philtrum, Tooth malposition, Downturned corners of mouth, Holoprosencephaly,... ORPHA:1598
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Truncus arteriosus, Ventricular septal defect, Renal hypoplasia, Mesomelia, Hypoplasia of the uln... OMIM:228940
Agnathia-Otocephaly Complex
Situs inversus totalis, Narrow mouth, Aglossia, Holoprosencephaly, Microglossia, Cleft palate, Ag... OMIM:202650
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Brachydactyly OMIM:615983
Cerebrooculofacioskeletal Syndrome 3
Talipes equinovarus, Microphthalmia, Rocker bottom foot OMIM:616570
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly, Tapered finger, Macroorchidism, Limited elbow extension OMIM:300706
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cavum septum pellucidum, Ventricular septal defect, Polydactyly, Megalencephaly, Smooth philtrum,... OMIM:602501
Holoprosencephaly With Fetal Akinesia/Hypokinesia Sequence
Holoprosencephaly, Multiple joint contractures, Microcephaly OMIM:306990
Mosaic Trisomy 1
Hepatic agenesis, Oral cleft, Long toe, Congenital diaphragmatic hernia, Complete duplication of ... ORPHA:1692
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Postaxial hand polydactyly, Multinodular goiter, Preaxial foot polydactyly, Multicystic kidney dy... ORPHA:2091
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cryptorchidism, Multiple renal cysts, Ventricular septal defect, Renal hypoplasia/aplasia, Tooth ... ORPHA:1166
Lambert Syndrome
Branchial anomaly, Ventricular septal defect, Wide mouth, Cholestasis, Jaundice, Intrahepatic bil... ORPHA:1296
Poland Syndrome
Absence of pectoralis minor muscle, Hypoplasia of serratus anterior muscle, Hypoplasia of latissi... OMIM:173800
Meier-Gorlin Syndrome 7
Cryptorchidism, Atrial septal defect, Narrow mouth, Ventricular septal defect, Anal stenosis, Com... OMIM:617063
Holzgreve Syndrome
Hand polydactyly, Renal hypoplasia, Hypoplastic left heart, Cleft upper lip, Cleft palate, Renal ... OMIM:236110
Arima Syndrome
Nephronophthisis, Postaxial hand polydactyly, Tubulointerstitial fibrosis, Hepatic steatosis, Wid... OMIM:243910
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Smith-Lemli-Opitz Syndrome
Cryptorchidism, Hip subluxation, Epiphyseal stippling, Dental crowding, Intestinal malrotation, H... OMIM:270400
Smith-Lemli-Opitz Syndrome
Cryptorchidism, Abnormal dental enamel morphology, Split hand, Abnormality of the metacarpal bone... ORPHA:818
Bardet-Biedl Syndrome 4
Cryptorchidism, Polydactyly, Abnormality of the dentition, Syndactyly, Renal cyst, Brachydactyly,... OMIM:615982
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Microform Holoprosencephaly
Panhypopituitarism, Short philtrum, EMG: myopathic abnormalities, Renal agenesis, Holoprosencepha... ORPHA:280200
Distal Monosomy 12Q
Congenital hypertrophy of left ventricle, Vesicoureteral reflux, Patent foramen ovale, High, narr... ORPHA:96149
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Long philtrum, Hiatus hernia, Buphthalmos, Pancreatic cysts, Umbilical hernia, Cholestasis, Hepat... OMIM:610199
Genitopalatocardiac Syndrome
Cryptorchidism, Abnormality of mesentery morphology, Postaxial hand polydactyly, Downturned corne... ORPHA:2075
Roberts Syndrome
Cryptorchidism, Bilateral single transverse palmar creases, Sandal gap, Wrist flexion contracture... ORPHA:3103
Nevus Comedonicus Syndrome
Spina bifida, Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida occulta, Micr... ORPHA:64754
Simpson-Golabi-Behmel Syndrome, Type 1
Cryptorchidism, Broad thumb, Two carpal ossification centers present at birth, Flared iliac wing,... OMIM:312870
Cranioectodermal Dysplasia 2
Polydactyly, Patent foramen ovale, High palate, Broad philtrum, Bile duct proliferation, Renal in... OMIM:613610
Heterotaxy, Visceral, 4, Autosomal
Ectopia of the spleen, Dextrocardia, Atrioventricular canal defect, Ventricular septal defect OMIM:613751
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Oligodontia, Exocrine pancreatic insufficiency, Death in infancy, Abno... ORPHA:2315
16P13.11 Microdeletion Syndrome
Cryptorchidism, Camptodactyly of finger, Atrial septal defect, Talipes equinovarus, Ventricular s... ORPHA:261236
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Genu valgum, Nephronophthisis, Postaxial hand polydactyly, Ventricular septal defect, Cholestasis... OMIM:615630
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Renal insufficiency, Hematuria, Albuminuria, Pyelonephriti... ORPHA:730
Acromelic Frontonasal Dysostosis
Cryptorchidism, Polydactyly, Hypoplasia of the corpus callosum, Preaxial polydactyly, Hypopituita... OMIM:603671
Diabetic Embryopathy
Cryptorchidism, Aplasia/Hypoplasia of the corpus callosum, Ventricular septal defect, Aplasia/Hyp... ORPHA:1926
Chromosome 15Q25 Deletion Syndrome
Cryptorchidism, Tented upper lip vermilion, Dextrocardia, Congenital diaphragmatic hernia, Cleft ... OMIM:614294
Lambotte Syndrome
Semilobar holoprosencephaly, Narrow mouth, Ventricular septal defect, Preaxial foot polydactyly, ... OMIM:245552
Thanatophoric Dysplasia Type 2
Abnormality of the kidney, Atrial septal defect, Holoprosencephaly, Abnormality of the metaphysis... ORPHA:93274
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Elevated circulating alanine aminotransferase concentration,... ORPHA:53035
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos OMIM:613703
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia, Neural tube defect OMIM:600776
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Complete atrioventricular canal defect, Natal tooth, Hamartoma of tongue, Pos... OMIM:617925
Nephronophthisis 2
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Absence of renal corticomedullary diff... OMIM:602088
Diaphanospondylodysostosis
Nephroblastomatosis, Enlarged kidney, Cystic renal dysplasia, Nephrogenic rest, Abnormal liver lo... OMIM:608022
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Dextrocardia
Meckel diverticulum, Abnormal renal morphology, Situs inversus totalis, Congenital hip dislocatio... ORPHA:1666
Bardet-Biedl Syndrome 22
Polydactyly OMIM:617119
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly, Microcephaly, Cerebral cortical atrophy ORPHA:2523
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Narrow mouth, Holoprosencephaly, Microglossia, Hypoplasia of penis, Agene... ORPHA:990
Multiple Acyl-Coa Dehydrogenase Deficiency
Lacticaciduria, Scapular winging, Increased intramyocellular lipid droplets, Elevated hepatic tra... ORPHA:26791
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect, Unilateral renal agenesis, Short distal phalanx of... OMIM:601355
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Carious teeth, Midline notch of upper alveolar ridge, Complete duplication of ... OMIM:129540
Verheij Syndrome
Long philtrum, Renal agenesis, Renal hypoplasia, Cerebral atrophy, Thin upper lip vermilion, Clin... OMIM:615583
Campomelia, Cumming Type
Pancreatic cysts, Polysplenia, Polycystic liver disease, Bowing of the long bones, Polycystic kid... OMIM:211890
Bardet-Biedl Syndrome 12
Polydactyly OMIM:615989
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Poland Syndrome
Cryptorchidism, Absent hand, Split hand, Duplicated collecting system, Unilateral brachydactyly, ... ORPHA:2911
Meckel Syndrome 13
Flexion contracture, Polycystic kidney dysplasia OMIM:617562
Orofaciodigital Syndrome Type 6
Central Y-shaped metacarpal, Tongue nodules, Hamartoma of tongue, Lobulated tongue, High palate, ... ORPHA:2754
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Postaxial hand polydactyly, Hydrocephalus, Abnormal heart morphology, Dea... OMIM:241800
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Holoprosencephaly
Cryptorchidism, Branchial anomaly, Proteinuria, Spinal dysraphism, Solitary median maxillary cent... ORPHA:2162
Solitary Median Maxillary Central Incisor
Holoprosencephaly, Torus palatinus, Solitary median maxillary central incisor, Microphthalmia, Cl... OMIM:147250
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Median cleft palate, Microphthalmia ORPHA:2432
Holoprosencephaly 9
Cryptorchidism, Anterior pituitary hypoplasia, Solitary median maxillary central incisor, Anophth... OMIM:610829
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cryptorchidism, Squared iliac bones, Hypoplastic pelvis, Renal hypoplasia, Rhizomelia, Natal toot... OMIM:616300
Rhyns Syndrome
Nephronophthisis, Abnormality of long bone morphology, Hypoplastic ilia, Hypopituitarism, Multicy... ORPHA:140976
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Postaxial hand polydactyly, Narrow mouth, Ventricular septal defect, Megalencephaly, Abnormal loc... ORPHA:83473
Genitopalatocardiac Syndrome
Ventricular septal defect, Double outlet right ventricle, Renal cyst, Cleft upper lip, Cleft pala... OMIM:231060
Catel-Manzke Syndrome
Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, Abnormality of epiphysi... ORPHA:1388
D-Bifunctional Protein Deficiency
Long philtrum, Talipes equinovarus, Decreased muscle mass, Elevated hepatic transaminase, Corpus ... OMIM:261515
Fanconi Anemia, Complementation Group O
Cryptorchidism, Hypoplasia of the radius, Abnormal heart morphology, Anal atresia, Hydronephrosis... OMIM:613390
Greig Cephalopolysyndactyly Syndrome
Postaxial hand polydactyly, Broad thumb, Preaxial hand polydactyly, Hydrocephalus, Toe syndactyly... ORPHA:380
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... OMIM:608180
Tetrasomy 9P
Cryptorchidism, Abnormal dental enamel morphology, Pericarditis, Downturned corners of mouth, Den... ORPHA:3310
Femoral-Facial Syndrome
Cryptorchidism, Short fifth metatarsal, Abnormal renal collecting system morphology, Micropenis, ... OMIM:134780
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, IgA deposition in the glomerulus, Ventricular septal defect, Focal s... OMIM:616730
Pentalogy Of Cantrell
Atrial septal defect, Abnormality of tibia morphology, Renal agenesis, Ventricular septal defect,... ORPHA:1335
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Clinodactyly, Syndactyly, Brachydactyly, Microphthalmia OMIM:610023
Trisomy 4P
Cryptorchidism, Carious teeth, Radial club hand, Preaxial hand polydactyly, Camptodactyly of fing... ORPHA:1738
Pierpont Syndrome
Cryptorchidism, Thin vermilion border, Deep palmar crease, Short toe, Broad palm, Everted lower l... OMIM:602342
Roberts-Sc Phocomelia Syndrome
Cryptorchidism, Biliary tract abnormality, Abnormality of the metacarpal bones, Wrist flexion con... OMIM:268300
Meckel Syndrome, Type 8
Postaxial hand polydactyly, Polydactyly, Microphthalmia, Anophthalmia, Talipes equinovarus OMIM:613885
Orofaciodigital Syndrome Vi
Hypothalamic hamartoma, Preaxial hand polydactyly, Toe syndactyly, Renal agenesis, Central Y-shap... OMIM:277170
Combined Oxidative Phosphorylation Deficiency 11
Pachygyria, Renal hypoplasia, Hepatic steatosis, Hypoplasia of the corpus callosum, Death in infa... OMIM:614922
Jacobsen Syndrome
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Holoprosencephaly, Flexion contr... OMIM:147791
Galloway-Mowat Syndrome 7
Partial duplication of thumb phalanx, IgA deposition in the glomerulus, High palate, Diffuse mesa... OMIM:618348
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Preaxial hand polydactyly, Syndactyly, Broad hallux OMIM:234280
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Atrial septal defect, Horseshoe kidney, Single ventricle, Ventricular se... OMIM:306955
Thomas Syndrome
Multicystic kidney dysplasia, Hypoplastic left heart, Cleft upper lip, Cleft palate, Renal hypopl... ORPHA:3316
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Hydranencephaly, Hydrocephalus OMIM:617967
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
Ventricular septal defect, Portal inflammation, Elevated circulating alanine aminotransferase con... OMIM:613759
Microgastria-Limb Reduction Defect Syndrome
Absent hand, Crossed fused renal ectopia, Elbow dislocation, Congenital muscular torticollis, Int... ORPHA:2538
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
22Q11.2 Deletion Syndrome
Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Narrow mouth, Intestinal malrot... ORPHA:567
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Abnormal femoral torsion, Macroglossia, Talipes equinovarus, Abnormal thumb morphology, Renal mal... ORPHA:500095
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Microgastria-Limb Reduction Defects Association
Cryptorchidism, Secundum atrial septal defect, Intestinal malrotation, Biliary tract abnormality,... OMIM:156810
Caroli Syndrome
Cirrhosis, Abnormality of the kidney, Elevated hepatic transaminase, Intrahepatic cholestasis, Es... ORPHA:480520
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Acropectoral Syndrome
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb OMIM:605967
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Decreased liver function, Polycystic kidney dysplasia OMIM:600666
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Pallister-Hall Syndrome
Cryptorchidism, Broad thumb, Bilateral renal agenesis, Natal tooth, 3-4 finger cutaneous syndacty... ORPHA:672
Basel-Vanagaite-Smirin-Yosef Syndrome
Exaggerated cupid's bow, Dilated third ventricle, High, narrow palate, Cavum septum pellucidum, H... ORPHA:464738
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Hip dysplasia, Atrial septal defect, Arthrogryposis multiplex congenita, Elevated hepatic transam... OMIM:208085
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Multicystic kidney dysplasia, Renal dysplasia, Abnormality of the pancrea... ORPHA:3032
Carpenter Syndrome 1
Cryptorchidism, Flared iliac wing, Hydroureter, Camptodactyly, Metatarsus adductus, Spina bifida ... OMIM:201000
Phelan-Mcdermid Syndrome
Long philtrum, Abnormality of the kidney, Abnormal periventricular white matter morphology, Ventr... OMIM:606232
Vissers-Bodmer Syndrome
Holoprosencephaly, Tapered finger OMIM:619033
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Cryptorchidism, Long philtrum, Short philtrum, Interhypothalamic Adhesion, Smooth philtrum, Thin ... OMIM:618929
Polydactyly, Preaxial I
Partial duplication of thumb phalanx, Preaxial hand polydactyly, Radial deviation of thumb termin... OMIM:174400
Trisomy 13
Cryptorchidism, Long philtrum, Atrial septal defect, Postaxial hand polydactyly, Multiple renal c... ORPHA:3378
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Preaxial polydactyly, Postaxial polydactyly, Anencephaly, Polymicrogyria, C... OMIM:616546
Trisomy 1Q
Cryptorchidism, Camptodactyly of finger, Preaxial hand polydactyly, Toe syndactyly, Narrow mouth,... ORPHA:261344
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Ventricular septal defect, Anencephaly, Non-midline cleft lip, Aplasia/Hypoplasia o... ORPHA:2476
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cryptorchidism, 2-5 finger syndactyly, Abnormal periventricular white matter morphology, Narrow m... ORPHA:468631
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Long philtrum, Radial deviation of the hand, Hypoplasia of proximal rad... ORPHA:2756
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hip dysplasia, Arthrogryposis multiplex congenita, Elevated hepatic transaminase, Giant cell hepa... OMIM:613404
Cousin Syndrome
Camptodactyly, Hypoplastic ischia, Wrist flexion contracture, Alveolar ridge overgrowth, Hydrocep... OMIM:260660
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Hydrocephalus OMIM:614830
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Toe syndactyly, Bullet-shaped distal phalanx of the hallux, Microphthalm... ORPHA:1617
Acrorenal-Mandibular Syndrome
Hypoplasia of the radius, Rudimentary fibula, Narrow palate, Absent nipple, Hand polydactyly, Toe... OMIM:200980
14Q24.1Q24.3 Microdeletion Syndrome
Cryptorchidism, Long philtrum, Atrial septal defect, Truncus arteriosus, Dislocated radial head, ... ORPHA:401935
Bardet-Biedl Syndrome 16
Renal agenesis, Renal dysplasia, Renal cyst, Renal insufficiency, Abnormality of the kidney OMIM:615993
Simpson-Golabi-Behmel Syndrome, Type 2
Talipes equinovarus, Congenital hip dislocation, Broad palm, Micropenis, Deep philtrum, Short fin... OMIM:300209
Biliary Atresia, Extrahepatic
Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary duct atresia,... OMIM:210500
Proximal 16P11.2 Microdeletion Syndrome
Atrial septal defect, Hand polydactyly, Abnormal heart morphology, Abnormal aortic valve morpholo... ORPHA:261197
Meckel Syndrome, Type 10
Postaxial polydactyly, Anencephaly, Renal cyst, Cleft palate, Hypospadias, Micropenis OMIM:614175
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Atrial septal defect, Myocardial fibrosis, Type II lissencephaly, Pachygyria, Lissencephaly, Agen... OMIM:253800
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Hip dysplasia, Cryptorchidism, Long philtrum, Overlapping fingers, Open mouth, Abnormal heart mor... OMIM:618494
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Atrial septal defect, Ventricular septal defect, Nephropathy, M... ORPHA:1909
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Pelvis-Shoulder Dysplasia
Congenital hip dislocation, Hypoplastic ilia, Hypoplastic scapulae, Microphthalmia, Spina bifida ... OMIM:169550
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splen... OMIM:602347
Feingold Syndrome 2
3-4 toe syndactyly, Ventricular septal defect, Short middle phalanx of the 2nd finger, 2-3 toe sy... OMIM:614326
8P23.1 Duplication Syndrome
Long philtrum, Toe syndactyly, Ventricular septal defect, Thick vermilion border, Pulmonic stenos... ORPHA:251076
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Double... OMIM:220210
Congenital Disorder Of Glycosylation, Type Iil
Enamel hypoplasia, Death in infancy, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Cirrhos... OMIM:614576
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Atrial septal defect, Agenesis of corpus callosum, Horseshoe kidney, Ab... OMIM:609053
Orofaciodigital Syndrome Xvii
Clubbing of fingers, Central Y-shaped metacarpal, Polydactyly, Renal hypoplasia, Short middle pha... OMIM:617926
Mosaic Variegated Aneuploidy Syndrome
Atrial septal defect, Aplasia/Hypoplasia of the corpus callosum, Colon cancer, Holoprosencephaly,... ORPHA:1052
Filippi Syndrome
Cryptorchidism, Thin vermilion border, Short philtrum, Abnormality of dental morphology, Ventricu... OMIM:272440
Cerebrooculofacioskeletal Syndrome 1
Long philtrum, Thin vermilion border, Rocker bottom foot, Arthrogryposis multiplex congenita, Cam... OMIM:214150
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cryptorchidism, Cubitus valgus, Epiphyseal stippling, Abnormal heart morphology, Camptodactyly, I... OMIM:614866
Feingold Syndrome Type 2
Toe syndactyly, Ventricular septal defect, Short middle phalanx of finger, Jejunal atresia, Short... ORPHA:391646
Ivic Syndrome
Limited wrist movement, Carpal bone hypoplasia, Intestinal malrotation, Rectovaginal fistula, Sho... OMIM:147750
Vacterl/Vater Association
Cryptorchidism, Preaxial hand polydactyly, Renal agenesis, Finger syndactyly, Anencephaly, Non-mi... ORPHA:887
Oculoauriculovertebral Spectrum With Radial Defects
Triphalangeal thumb, EMG: myopathic abnormalities, Preaxial hand polydactyly, Wide mouth, Non-mid... ORPHA:2549
Charge Syndrome
Cryptorchidism, Double outlet right ventricle, Absent radius, Short thumb, Anophthalmia, Micropen... OMIM:214800
Frontonasal Dysplasia 1
Pectoral muscle hypoplasia/aplasia, Postaxial hand polydactyly, Widely-spaced maxillary central i... OMIM:136760
X-Linked Intellectual Disability, Siderius Type
Cryptorchidism, Preaxial hand polydactyly, Large hands, Oral cleft, Cleft upper lip, Decreased te... ORPHA:85287
Microphthalmia With Limb Anomalies
Cryptorchidism, Thin vermilion border, Tarsal synostosis, Broad thumb, Elbow dislocation, Death i... ORPHA:1106
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Hypoplastic iliac wing, Micr... OMIM:300863
1Q41Q42 Microdeletion Syndrome
Cryptorchidism, Holoprosencephaly, Thick vermilion border, Congenital diaphragmatic hernia, Cleft... ORPHA:250999
Pierpont Syndrome
Cryptorchidism, Thin vermilion border, Deep palmar crease, Everted lower lip vermilion, Long uppe... ORPHA:487825
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Preaxial hand polydactyly, Hypoplasia of the corpus callosum, Cleft upper lip, Cleft palate, Micr... OMIM:601420
Tyrosinemia, Type I
Paralytic ileus, Cirrhosis, Elevated hepatic transaminase, Enlarged kidney, Renal Fanconi syndrom... OMIM:276700
Orofaciodigital Syndrome Xiv
Cryptorchidism, Natal tooth, Hamartoma of tongue, Postaxial polydactyly, Aplasia of the epiglotti... OMIM:615948
Syndromic Diarrhea
Cirrhosis, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Renal hypo... ORPHA:84064
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cardiomegaly, Cerebral calcification, Micr... ORPHA:858
H Syndrome
Abnormality of the kidney, Azoospermia, Enlarged kidney, Camptodactyly, Gingival overgrowth, Clef... ORPHA:168569
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Deep palmar crease, Macroglossia, Atrial septal defect, Abnormal heart morphology, Enlarged kidne... ORPHA:505248
Moebius Syndrome
Arthrogryposis multiplex congenita, Short phalanx of finger, Split hand, Camptodactyly, Congenita... OMIM:157900
Microphthalmia, Syndromic 2
Cryptorchidism, Oligodontia, Sandal gap, Hammertoe, Dextrocardia, Double outlet right ventricle, ... OMIM:300166
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Hadziselimovic Syndrome
Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect, Renal hypoplasia, Hypop... OMIM:612946
Iniencephaly
Rocker bottom foot, Spina bifida, Arthrogryposis multiplex congenita, Renal agenesis, Narrow mout... ORPHA:63259
Joubert Syndrome 22
Postaxial hand polydactyly, Temporal cortical atrophy, Renal hypoplasia, Hypoplasia of the corpus... OMIM:615665
Faciothoracogenital Syndrome
Long philtrum, Glandular hypospadias, Smooth philtrum, Thin upper lip vermilion, Microphthalmia OMIM:227320
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Absent septum pellucidum, Holoprosencephaly, Aqueductal stenosis, Adducted thumb, ... ORPHA:2182
Right Atrial Isomerism
Abdominal situs ambiguus, Right atrial isomerism, Single ventricle, Situs inversus totalis, Ventr... OMIM:208530
Spondylocostal Dysostosis 4, Autosomal Recessive
Dextrocardia, Myelomeningocele, Situs inversus totalis, Spina bifida occulta OMIM:613686
Kaposiform Lymphangiomatosis
Abnormal humerus morphology, Abnormality of femur morphology, Multiple renal cysts, Abnormality o... ORPHA:464329
Acrocephalopolydactylous Dysplasia
Postaxial hand polydactyly, Enlarged kidney, Cystic renal dysplasia, Polysplenia, Hypoplastic col... OMIM:200995
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia of the proximal phalanges of the hand, Cryptorchidism, Abnormality of mesentery morpholog... ORPHA:2256
Microphthalmia With Limb Anomalies
Postaxial hand polydactyly, Toe syndactyly, Fused fourth and fifth metacarpals, Foot oligodactyly... OMIM:206920
Isolated Biliary Atresia
Cirrhosis, Dark yellow urine, Elevated hepatic transaminase, Atretic gallbladder, Fat malabsorpti... ORPHA:30391
Carpenter Syndrome
Genu valgum, Postaxial hand polydactyly, Broad thumb, Toe syndactyly, Finger syndactyly, Polydact... ORPHA:65759
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect, Renal hypoplasia, Foot oligodactyly, Esophageal va... OMIM:616589
3Mc Syndrome 3
Cryptorchidism, Diastasis recti, Horseshoe kidney, Radioulnar synostosis, Preaxial polydactyly, P... OMIM:248340
Recombinant Chromosome 8 Syndrome
Cryptorchidism, Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Cam... OMIM:179613
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Long philtrum, Preaxial hand polydactyly, Thin upper lip vermilion, Interphalangeal joint contrac... OMIM:606242
Floating-Harbor Syndrome
Cryptorchidism, Carious teeth, Oligodontia, Short clavicles, Short thumb, Broad fingertip, Hip dy... ORPHA:2044
Chromosome 13Q33-Q34 Deletion Syndrome
Cryptorchidism, Open mouth, Camptodactyly, Anencephaly, Short thumb, High palate, Small thenar em... OMIM:619148
3P25.3 Microdeletion Syndrome
Broad thumb, Cerebral white matter atrophy, Downturned corners of mouth, Pyloric stenosis, Postax... ORPHA:435638
Joubert Syndrome With Ocular Defect
Hand polydactyly, Hydrocephalus, Aganglionic megacolon, Oral cleft, Dextrocardia, Polymicrogyria,... ORPHA:220493
Kapur-Toriello Syndrome
Overlapping fingers, Cryptorchidism, Camptodactyly of finger, Atrial septal defect, Pachygyria, V... OMIM:244300
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Dextrocardia OMIM:606217
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Semilobar holoprosencephaly, Talipes equinovarus, Colpocephaly, Flexion contracture, Thick vermil... OMIM:618651
Joubert Syndrome 6
Hepatic fibrosis, Nephronophthisis, Bile duct proliferation, Stage 5 chronic kidney disease OMIM:610688
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Agenesis of corpus callosum, Ventricular septal defect, Alobar holop... OMIM:301043
Joubert Syndrome 18
Polydactyly, Camptodactyly, Horseshoe kidney, Ventricular septal defect OMIM:614815
Holoprosencephaly 3
Holoprosencephaly, Solitary median maxillary central incisor, Hydronephrosis, Cleft lip, Cleft pa... OMIM:142945
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Renal Tubular Dysgenesis
Multiple renal cysts, Proximal tubulopathy, Renotubular dysgenesis, Bilateral single transverse p... ORPHA:3033
Ciliary Dyskinesia, Primary, 20
Dextrocardia, Absent outer dynein arms, Situs inversus totalis OMIM:615067
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Hepatomegaly, Microphthalmia, High palate, Ketonuria, Single transverse palmar ... OMIM:619053
Laurin-Sandrow Syndrome
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe syndactyly, Fin... ORPHA:2378
Eng-Strom Syndrome
Camptodactyly of finger, Abnormal cardiac septum morphology, Brachydactyly, Ventricular septal de... ORPHA:1937
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Small thenar eminence, Renal hypoplasia, Hypoplasia of the corpus callosum, 2-3 toe syndactyly, J... OMIM:618914
Alagille Syndrome 2
Atrial septal defect, Hematuria, Renal hypoplasia, Cholestasis, Renal tubular acidosis, Pulmonic ... OMIM:610205
14Q11.2 Microdeletion Syndrome
Long philtrum, Toe syndactyly, Narrow mouth, Ventricular septal defect, High palate, Everted lowe... ORPHA:261120
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Atrial septal defect, Narrow mouth, Ventricular septal defect,... ORPHA:3469
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Short philtrum, Downturned corners of mouth, Ventricular septal defect, Abnormality of epiphysis ... ORPHA:93267
Oculofaciocardiodental Syndrome
Oligodontia, Intestinal malrotation, Flexion contracture of the 2nd toe, Solitary median maxillar... ORPHA:2712
Congenital Varicella Syndrome
Microphthalmia, Micromelia ORPHA:291
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
Burn-Mckeown Syndrome
Thin vermilion border, Atrial septal defect, Short philtrum, Narrow mouth, Hypomimic face, Ventri... OMIM:608572
Focal Dermal Hypoplasia
Open bite, Abnormal dental enamel morphology, Split hand, Short clavicles, Congenital diaphragmat... ORPHA:2092
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of corpus callosum, Type II lissencephaly, Muscular dystrophy, Anencephaly, Renal dyspla... OMIM:615287
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Small cerebral cortex, Optic nerve hypoplasia, Microphthalmia, Hyperechogenic k... OMIM:617914
Suleiman-El-Hattab Syndrome
Cryptorchidism, Long philtrum, Atrial septal defect, Drooling, Downturned corners of mouth, Ventr... OMIM:618950
Acrocallosal Syndrome
Cryptorchidism, Thin vermilion border, Hypoplasia of teeth, Open mouth, Rectovaginal fistula, Tri... OMIM:200990
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Pachygyria, Type II lissencephaly, Abnormal cerebral white matter morphology, Muscular dystrophy,... OMIM:613153
Congenital Pseudoarthrosis Of The Clavicle
Dextrocardia, Situs inversus totalis, Congenital pseudoarthrosis of the clavicle ORPHA:66630
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Broad thumb, Abnormality of the philtrum, Ventricular septal defect, Large hands, Non-midline cle... ORPHA:1770
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Myopathy, Hydrocephalus ORPHA:588
Mckusick-Kaufman Syndrome
Cryptorchidism, Tarsal synostosis, Abnormality of the metacarpal bones, High palate, Renal hypopl... ORPHA:2473
C Syndrome
Cryptorchidism, Dislocated radial head, Postaxial hand polydactyly, Toe syndactyly, Renal cortica... OMIM:211750
Primary Pulmonary Hypoplasia
Abnormal hemidiaphragm morphology, Secundum atrial septal defect, Dextrocardia, Patellar hypoplas... ORPHA:2257
Teebi-Shaltout Syndrome
Oligodontia, Narrow mouth, Camptodactyly, Ulnar deviation of the hand, Metatarsus adductus, High,... OMIM:272950
Cat-Eye Syndrome
Hip dysplasia, Abnormal localization of kidney, Anal atresia, Hydronephrosis, Microphthalmia, Ren... ORPHA:195
Cofs Syndrome
Camptodactyly of finger, Arthrogryposis multiplex congenita, Everted lower lip vermilion, Death i... ORPHA:1466
Campomelia, Cumming Type
Multiple renal cysts, Pancreatic cysts, Bowing of the long bones, Death in infancy, Multicystic k... ORPHA:1318
Nanophthalmos
Microphthalmia ORPHA:35612
3C Syndrome
Intestinal malrotation, Death in infancy, Oral cleft, High, narrow palate, Hydrocephalus, Abnorma... ORPHA:7
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Atrial septal defect, Porencephalic cyst, Agenesis of corpus callosum, Ventricula... OMIM:613001
Ciliary Dyskinesia, Primary, 38
Dextrocardia, Absent inner and outer dynein arms, Situs inversus totalis OMIM:618063
Limb Body Wall Complex
Short umbilical cord, Anencephaly, Spina bifida occulta, Congenital diaphragmatic hernia, Aplasia... ORPHA:2369
Fetal Minoxidil Syndrome
Cryptorchidism, Clinodactyly of the 5th finger, Umbilical hernia, Ventricular septal defect ORPHA:1918
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Hematuria, Microphthalmia, Cleft upper lip, Cleft palate OMIM:120433
Say Syndrome
Cystic renal dysplasia, Short distal phalanx of finger, Ulnar deviation of the 3rd finger, Proxim... OMIM:181180
15q26 overgrowth syndrome
Long philtrum, Abnormality of toe, Camptodactyly of finger, Horseshoe kidney, Abnormality of fing... DECIPHER:81
Microcephaly-Cardiomyopathy Syndrome
Ventricular septal defect, Sandal gap, Dilated cardiomyopathy, Microcephaly, High, narrow palate,... ORPHA:2515
Cerebrocostomandibular Syndrome
Spina bifida, Porencephalic cyst, Ventricular septal defect, Death in infancy, Multicystic kidney... ORPHA:1393
Charge Syndrome
Cryptorchidism, Abnormality of tibia morphology, Narrow mouth, Vesicoureteral reflux, Anophthalmi... ORPHA:138
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Abnormality of the urinary system, Abnormality of the ureter, Abnormal localizatio... ORPHA:1834
Pelvis-Shoulder Dysplasia
Hypoplastic ischia, Acetabular dysplasia, Fifth finger distal phalanx clinodactyly, Hydrocephalus... ORPHA:2839
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Dextrocardia, Asplenia, Situs inversus totalis OMIM:618948
Dihydropyrimidine Dehydrogenase Deficiency
Cerebral atrophy, Uraciluria, Microphthalmia, Microcephaly, Agenesis of corpus callosum OMIM:274270
Hydrolethalus Syndrome 1
Anencephaly, Median cleft lip, Postaxial hand polydactyly, Preaxial hand polydactyly, Upper limb ... OMIM:236680
Megabladder, Congenital
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Hyperechogenic kidneys, Vent... OMIM:618719
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Carious teeth, Radioulnar synostosis, Abnormal palate morphology, Abnormality of the dentition, M... ORPHA:3270
Spinal Muscular Atrophy, Type I
Atrial septal defect, Spinal muscular atrophy, Proximal amyotrophy, Ventricular septal defect, Pr... OMIM:253300
Emanuel Syndrome
Cryptorchidism, Congenital hip dislocation, Dental crowding, Congenital diaphragmatic hernia, Hig... OMIM:609029
Sonoda Syndrome
High axial triradius, Narrow mouth, Ventricular septal defect OMIM:270460
Vater/Vacterl Association
Absent radius, Vesicoureteral reflux, Short thumb, Triphalangeal thumb, Hypoplasia of the radius,... OMIM:192350
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, Preaxial hand polydactyly, Broad toe, Preaxial foot polydactyly, 1-2... OMIM:186350
Hydrolethalus
Cryptorchidism, Postaxial hand polydactyly, Agenesis of corpus callosum, Absent septum pellucidum... ORPHA:2189
Igg4-Related Kidney Disease
Abnormality of mesentery morphology, Hematuria, Pericarditis, Acute kidney injury, Urinary bladde... ORPHA:449395
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, ... ORPHA:90301
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Open mouth, Downturned corners of mouth, Short distal phalanx of finger, Long thumb, High palate,... OMIM:220500
Prune Belly Syndrome
Cryptorchidism, Congenital hip dislocation, Hydroureter, Intestinal malrotation, Recurrent urinar... ORPHA:2970
Holoprosencephaly 2
Median cleft lip and palate, Single ventricle, Holoprosencephaly, Anterior pituitary agenesis, So... OMIM:157170
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Preaxial polydactyly, Postaxial polydactyly, Pancreatic fibrosis, Shor... OMIM:615503
Roifman Syndrome
Long philtrum, Short toe, Noncompaction cardiomyopathy, Downturned corners of mouth, Ventricular ... OMIM:616651
Pancreatic Agenesis-Holoprosencephaly Syndrome
Semilobar holoprosencephaly, Holoprosencephaly, Pancreatic aplasia, Solitary median maxillary cen... ORPHA:556955
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Pelvic kidney, Long philtrum, Preaxial hand polydactyly, Truncus arteriosus, Hypopla... ORPHA:508498
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Broad thumb, Ventricular septal defect, 2-3 toe syndactyly, Tented upper li... OMIM:600987
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormal heart morphology, Unilateral renal agenesis, Renal dysplasia, Vesicoureteral reflux, Hyd... ORPHA:2237
Brachydactyly, Type B1
Broad thumb, Ventricular septal defect, Short middle phalanx of finger, Aplasia/Hypoplasia of the... OMIM:113000
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Metaphyseal chondrodysplasia, Rhizomelia, Metaphyseal cupping of metacarpals, Hypoplastic iliac w... ORPHA:163966
Developmental Delay With Or Without Dysmorphic Facies And Autism
Cryptorchidism, Cerebral cortical atrophy, Vesicoureteral reflux, Congenital diaphragmatic hernia... OMIM:618454
Craniotelencephalic Dysplasia
Microphthalmia, Arrhinencephaly, Septo-optic dysplasia, Hydrocephalus ORPHA:1528
Fryns Syndrome
Cryptorchidism, Intestinal malrotation, Short distal phalanx of finger, Cerebral cortical atrophy... ORPHA:2059
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Nephronophthisis 15
Polydactyly, Nephronophthisis, Hepatic failure OMIM:614845
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Long philtrum, Preaxial hand polydactyly, Pachygyria, Exencephaly, Broad thumb, Finger syndactyly... ORPHA:2211
Mohr Syndrome
Metaphyseal irregularity, Tongue nodules, Short palm, Lobulated tongue, High palate, Hydrocephalu... OMIM:252100
Inverted Duplicated Chromosome 15 Syndrome
Cryptorchidism, Short philtrum, Talipes equinovarus, Drooling, Ventricular septal defect, 2-3 toe... ORPHA:3306
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle OMIM:618254
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Ventricular septal defect, Hypoplasia of the corpus callosum, Cerebral atro... OMIM:614261
Tuberous Sclerosis Complex
Parathyroid hyperplasia, Cardiac rhabdomyoma, Pheochromocytoma, Hepatic cysts, Renal angiomyolipo... ORPHA:805
Rhizomelic Syndrome, Urbach Type
Abnormality of the tongue, Preaxial hand polydactyly, Abnormality of epiphysis morphology, Rhizom... ORPHA:3098
Baraitser-Winter Syndrome 1
Cryptorchidism, Long philtrum, Pachygyria, Duplication of phalanx of hallux, Wide mouth, Oral cle... OMIM:243310
Joubert Syndrome 14
Short philtrum, Open mouth, Postaxial polydactyly, Tented upper lip vermilion, Renal cyst, Microp... OMIM:614424
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Hand polydactyly, Ventricular septal defect, Everted lower lip vermilion, P... OMIM:249670
Glycogen Storage Disease Ia
Decreased muscle mass, Elevated hepatic transaminase, Enlarged kidney, Focal segmental glomerulos... OMIM:232200
Mend Syndrome
Overlapping fingers, Cryptorchidism, Overlapping toe, Polydactyly, 2-3 toe syndactyly, Aortic val... OMIM:300960
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Micronodular cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatome... OMIM:203700
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Mesomelic/rhizomelic limb shortening, Abnormal mitral valve morphology, Abn... ORPHA:1354
Congenital Rubella Syndrome
Atrial septal defect, Ventricular septal defect, Aplasia/Hypoplasia of the iris, Hepatomegaly, Ja... ORPHA:290
Apert Syndrome
Cryptorchidism, Narrow palate, Megalencephaly, Hydrocephalus, Postaxial hand polydactyly, Preaxia... OMIM:101200
X-Linked Dominant Chondrodysplasia Punctata
Hip dysplasia, Abnormality of epiphysis morphology, Rhizomelia, Hemiatrophy, Foot polydactyly, Mi... ORPHA:35173
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Cystic renal dysplasia, Hepatomegaly, Ectopic kidney, Secondary microcephaly, Abn... OMIM:613730
Microphthalmia, Syndromic 8
Cryptorchidism, Oral cleft, Split foot, Microphthalmia, Cleft upper lip, Cleft palate, Microcepha... OMIM:601349
Orofaciodigital Syndrome V
Postaxial hand polydactyly, Horseshoe kidney, Aganglionic megacolon, Postaxial foot polydactyly, ... OMIM:174300
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Walker-Warburg Syndrome
Cryptorchidism, Pachygyria, Agenesis of corpus callosum, Hypoplasia of penis, Absent septum pellu... ORPHA:899
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Congenital muscular dystrophy, Oral cleft, Microphthalmia, Hydrocephalus ORPHA:324416
Orofaciodigital Syndrome Xv
Postaxial polydactyly, Hydronephrosis, Lobulated tongue, Broad hallux, Agenesis of corpus callosum OMIM:617127
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Long philtrum, Ankyloglossia, Agenesis of corpus callosum, Broad thumb, Hand poly... ORPHA:250989
Adams-Oliver Syndrome 4
Short toe, Atrial septal defect, Umbilical hernia, Ventricular septal defect OMIM:615297
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Enlarged kidney, Oral ulcer, Focal segmental glomerulosclerosis, H... OMIM:232220
Microphthalmia, Syndromic 12
Cryptorchidism, Ventricular septal defect, Hypoplastic left atrium, Congenital diaphragmatic hern... OMIM:615524
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Acrocardiofacial Syndrome
Cryptorchidism, Split hand, Death in infancy, Abnormality of the metacarpal bones, Cerebral corti... ORPHA:2008
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Death in infancy, Phocomelia, Abnor... OMIM:274000
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormality of thalamus morphology, Cryptorchidism, Long philtrum, Broad distal phalanx of finger... ORPHA:404440
Ring Chromosome 7 Syndrome
Hydrocele testis, Thin vermilion border, Short philtrum, Situs inversus totalis, Narrow mouth, 3-... ORPHA:1449
Fryns Syndrome
Cryptorchidism, Camptodactyly, Intestinal malrotation, Short distal phalanx of finger, Ectopic pa... OMIM:229850
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Hydroureter, Symphalangism affecting the phalanges of the hand, Abnormal... ORPHA:2547
Codas Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Congenital hip dislocation, Abnorma... ORPHA:1458
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Split foot, Hypoplastic right heart, Ventricular septal defect OMIM:601348
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Horseshoe kidney, Hydrocephalus, Ventricular septal defect, Hypoplasia of the cor... OMIM:218350
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Situs inversus totalis, Goiter OMIM:617577
Cardiac-Urogenital Syndrome
Cryptorchidism, Scimitar anomaly, Accessory spleen, Atrial septal defect, Ventricular septal defe... OMIM:618280
Senior-Loken Syndrome 9
Nephronophthisis, Polydactyly, Cholestasis, Hepatic fibrosis, Tubulointerstitial nephritis, Stage... OMIM:616629
Coach Syndrome 1
Nephronophthisis, Cirrhosis, Postaxial hand polydactyly, Elevated hepatic transaminase, Unilatera... OMIM:216360
Retinitis Pigmentosa 89
Micronodular cirrhosis, Postaxial polydactyly, Esophageal varix, Hepatic fibrosis, Intrahepatic b... OMIM:618955
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Microphthalmia OMIM:614082
Isolated Klippel-Feil Syndrome
Spina bifida, Ventricular septal defect, Congenital muscular torticollis, Ectopic anus, Anal atre... ORPHA:2345
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Cryptorchidism, Carious teeth, Oligodontia, Hydroureter, Split hand, Duplicated collecting system... OMIM:129900
Carpenter Syndrome 2
Cryptorchidism, Talipes equinovarus, Atrial septal defect, Situs inversus totalis, Narrow palate,... OMIM:614976
Beckwith-Wiedemann Syndrome
Cryptorchidism, Macroglossia, Diastasis recti, Renal cortical cysts, Enlarged kidney, Cardiomyopa... OMIM:130650
Heterotaxy, Visceral, 5, Autosomal
Atrial septal defect, Ventricular septal defect, Abdominal situs inversus, Dextrocardia, Transpos... OMIM:270100
Ciliary Dyskinesia, Primary, 17
Dextrocardia, Abnormal respiratory motile cilium morphology, Situs inversus totalis OMIM:614679
Warburg Micro Syndrome 1
Cryptorchidism, Thin vermilion border, Narrow mouth, Overlapping toe, Hypoplasia of the corpus ca... OMIM:600118
Holoprosencephaly-Craniosynostosis Syndrome
Holoprosencephaly, Short distal phalanx of finger, Microcephaly, Clinodactyly of the 5th finger, ... ORPHA:2163
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Craniosynostosis With Anomalies Of The Cranial Base And Digits
Proximal placement of hallux, Preaxial foot polydactyly, Absent middle phalanx of 5th finger, Abs... OMIM:218530
Seckel Syndrome 2
Microglossia, Ectopic kidney, Microphthalmia, Hypospadias, Microcephaly, Microdontia, Clinodactyl... OMIM:606744
Bardet-Biedl Syndrome 8
Polydactyly, Hypospadias, Renal dysplasia, Situs inversus totalis OMIM:615985
8Q12 Microduplication Syndrome
Long philtrum, Atrial septal defect, Narrow mouth, Ventricular septal defect, Everted lower lip v... ORPHA:228399
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Duplicated collecting system, Partial duplication of thumb phalanx, Absent radius... OMIM:227646
Diaphanospondylodysostosis
Myelomeningocele, Narrow pelvis bone, Multiple renal cysts, Cleft palate ORPHA:66637
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Cryptorchidism, Oligodontia, Narrow palate, Narrow mouth, Pericardial effusion, Camptodactyly, Bi... OMIM:235510
Ciliary Dyskinesia, Primary, 7
Dextrocardia, Situs inversus totalis OMIM:611884
Ciliary Dyskinesia, Primary, 30
Dextrocardia, Absent outer dynein arms, Situs inversus totalis OMIM:616037
Beckwith-Wiedemann Syndrome
Cryptorchidism, Pseudohypoparathyroidism, Hypercalciuria, Vesicoureteral reflux, Large intestinal... ORPHA:116
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Glycogen Storage Disease Ixc
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:613027
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Microcephaly, High palate, Narrow mouth ORPHA:2528
Adams-Oliver Syndrome
Absent hand, Cirrhosis, Porencephalic cyst, Finger syndactyly, Split hand, Esophageal varix, Abno... ORPHA:974
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Meningocele, Congenital hepatic fibrosis, Glossoptosis, Renal cyst,... ORPHA:2031
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Carious teeth, Camptodactyly, Recurrent urinary tract infections, Thin lower lip vermilion, Micro... ORPHA:363444
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Short phalanx of finger, Ventricular septal defect, Camptodactyly, Short to... OMIM:613458
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida, Anomalous pulmonary venous return, Atrial septal defect, Preaxial hand polydactyly,... ORPHA:1120
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Hip dislocation, Bilateral microphthalmos OMIM:608763
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Cryptorchidism, Thin vermilion border, Short metatarsal, Short phalanx of finger, Broad thumb, Fl... OMIM:609945
Craniotelencephalic Dysplasia
Arrhinencephaly, Optic nerve hypoplasia, Microphthalmia OMIM:218670
17Q12 Microduplication Syndrome
Atrial septal defect, Toe syndactyly, Finger syndactyly, Cortical dysplasia, Microphthalmia, Clef... ORPHA:261272
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Overlapping fingers, Cryptorchidism, Atrial septal defect, Cutaneous syndactyly, Overlapping toe,... OMIM:618316
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Polysplenia, Abdominal situs inversus, Intestinal malrotation, Dextrocard... OMIM:605376
Emanuel Syndrome
Cryptorchidism, Congenital hip dislocation, Dental crowding, Submucous cleft lip, Congenital diap... ORPHA:96170
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia, Cortical tubers OMIM:600273
Coffin-Siris Syndrome 10
Ventricular septal defect, Wide mouth, Persistence of primary teeth, Clinodactyly, Microcephaly OMIM:618506
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Cat Eye Syndrome