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Gene: Mbd4 MGI:1333850

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
methyl-CpG binding domain protein 4
Synonyms:
Med1

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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 Mbd4 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 Mbd4 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Tumor Predisposition Syndrome 2
Adenomatous colonic polyposis, Colon cancer OMIM:619975
Melanoma, Uveal, Susceptibility To, 1
OMIM:606660

The table below shows human diseases predicted to be associated to Mbd4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Czeizel-Losonci Syndrome
Thickened nuchal skin fold, Hitchhiker thumb, Dextrocardia, Spina bifida, Single transverse palma... ORPHA:2437
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... OMIM:183600
Split-Hand/Foot Malformation 4
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... OMIM:605289
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... ORPHA:488232
Hunter-Macdonald Syndrome
Aortic regurgitation, Epiphyseal dysplasia, Inguinal hernia, Bicuspid aortic valve, Metatarsus ad... OMIM:611962
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Cleft palate, Upper limb phocomelia, Abnormal heart morphology, Abnormality of the ne... ORPHA:294975
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... ORPHA:1892
Mend Syndrome
Thickened nuchal skin fold, Broad hallux, Overlapping toe, Cryptorchidism, Hydrocephalus, Long fi... ORPHA:401973
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J... OMIM:225280
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ... ORPHA:93323
Melnick-Needles Syndrome
Omphalocele, Short humerus, Hypoplastic scapulae, Coxa valga, Long neck, Flared metaphysis, Hip d... OMIM:309350
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Split-Foot Malformation With Mesoaxial Polydactyly
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot OMIM:616890
Mend Syndrome
Redundant neck skin, Broad hallux, Overlapping toe, Cryptorchidism, Hydrocephalus, Long fingers, ... OMIM:300960
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger syndactyly, Split ... DECIPHER:46
Split-Hand/Foot Malformation 6
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly OMIM:225300
Triphalangeal Thumbs With Brachyectrodactyly
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly OMIM:190680
Aphalangy-Syndactyly-Microcephaly Syndrome
Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... ORPHA:1113
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Split-Foot Deformity With Mandibulofacial Dysostosis
Split hand, Toe syndactyly, Cleft palate, Split foot OMIM:183700
Holt-Oram Syndrome
Finger syndactyly, Paroxysmal atrial fibrillation, Ventricular septal defect, Down-sloping should... ORPHA:392
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger OMIM:313350
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Small hypothenar eminence, Inguinal hernia, Spina bifida, Mitral valve prolapse, Dermatoglyphic r... OMIM:211960
Mosaic Trisomy 20
Ventricular septal defect, Down-sloping shoulders, Cryptorchidism, Abnormal spinal cord morpholog... ORPHA:1724
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Inguinal hernia, Down-sloping shoulders, Metatarsus adductus, Cryptorchidism, Long ne... OMIM:227330
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Joubert Syndrome 15
Coloboma, Preaxial polydactyly, Exencephaly OMIM:614464
Hartsfield Syndrome
Encephalocele, Split hand, Cleft palate, Lobar holoprosencephaly, Aplasia/Hypoplasia of the radius ORPHA:2117
Moebius Syndrome
Syndactyly, Brachydactyly, Short neck, Split hand, Dysphagia, Bifid uvula, Abnormal pelvic girdle... OMIM:157900
Finnish Upper Limb-Onset Distal Myopathy
Split hand, Intrinsic hand muscle atrophy, Cardiomyopathy, Joint contracture of the hand, Weaknes... ORPHA:399086
Mmep Syndrome
Cryptorchidism, Split foot, Ventricular septal defect, Triphalangeal thumb ORPHA:3434
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger syndactyly, 2-5 finger cutaneous syndactyly, Toe syndactyly, Small hypothenar eminence, Ab... ORPHA:3246
Ectrodactyly-Polydactyly
Split hand, Postaxial hand polydactyly, Split foot OMIM:225290
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... ORPHA:2019
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Down-sloping shoulders, Short neck, Long fingers, 2-3 toe cutaneous syndactyly, Long neck, Cleft ... OMIM:301091
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... ORPHA:3329
2Q31.1 Microdeletion Syndrome
Short neck, Abnormal tibia morphology, Coloboma, Short palm, Clinodactyly of the 5th finger, Atri... ORPHA:251014
Adams-Oliver Syndrome
Encephalocele, Finger syndactyly, Brachydactyly, Gastrointestinal hemorrhage, Abnormal pulmonary ... ORPHA:974
Tetramelic Monodactyly
Split foot, Split hand, Foot monodactyly, Hand monodactyly OMIM:187510
Cooks Syndrome
Split hand, Broad thumb, Triphalangeal thumb, Brachydactyly ORPHA:1487
Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive
Split foot, Split hand, Tapered finger OMIM:220600
Ring Chromosome 4 Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... ORPHA:1447
Acrorenal Syndrome
Abnormal morphology of ulna, Abnormal tibia morphology, Split hand, Cleft palate, Aplasia/Hypopla... ORPHA:971
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Anencephaly, Cleft palate, Aplasia/Hypoplasia of the rad... ORPHA:2476
Postaxial Tetramelic Oligodactyly
Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology ORPHA:2730
Focal Dermal Hypoplasia
Abnormal palmar dermatoglyphics, Gastroesophageal reflux, Chorioretinal coloboma, Iris coloboma, ... ORPHA:2092
Charlie M Syndrome
Finger syndactyly, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology, Brachydactyly ORPHA:1406
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Split foot, Split hand, Hand monodactyly OMIM:183800
Silver-Russell Syndrome Due To A Point Mutation
Syndactyly, Inguinal hernia, Cryptorchidism, Cleft palate, Short 5th finger, Polydactyly, Small p... ORPHA:397590
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Inguinal hernia, Abnormal heart valve morphology, Intestinal pseudo-obstruction, Sh... OMIM:309900
Split-Hand And Split-Foot With Hypodontia
Split hand, Split foot OMIM:183500
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula ORPHA:1118
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Trisomy 13
Ventricular septal defect, Cryptorchidism, Postaxial hand polydactyly, High, narrow palate, Paten... ORPHA:3378
Occipital Horn Syndrome
Short humerus, Orthostatic hypotension, Pelvic bone exostoses, Coxa valga, Hiatus hernia, Capitat... OMIM:304150
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Down-sloping shoulders, Long neck, Short foot, High palate, Clinodactyly of th... ORPHA:1974
Acalvaria
Omphalocele, Spina bifida, Hydrocephalus, Postaxial hand polydactyly, Cleft palate, Holoprosencep... ORPHA:945
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Arachnodactyly, Long neck, Large hands, High palate OMIM:617011
Anonychia-Ectrodactyly
Split hand, Aplasia of metacarpal bones OMIM:106900
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Dextrocardia, Camptodactyly of finger, Intestinal malrotation, Diastomatomyelia, Me... ORPHA:1759
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micromelia, Split hand, Cleft palate, Webbed neck, Brachydactyly ORPHA:2145
Opitz-Kaveggia Syndrome
Single transverse palmar crease, Short neck, Anteriorly placed anus, Prominent fingertip pads, Sy... OMIM:305450
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Short neck, Cryptorchid... ORPHA:2879
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, High, narrow palate,... ORPHA:957
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo... ORPHA:1860
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... ORPHA:93322
Pentalogy Of Cantrell
Encephalocele, Omphalocele, Ventricular septal defect, Abnormal pericardium morphology, Hydroceph... ORPHA:1335
Otofaciocervical Syndrome 1
Long neck, Scapular winging, High palate, Down-sloping shoulders OMIM:166780
Microgastria-Limb Reduction Defect Syndrome
Congenital muscular torticollis, Abnormal finger morphology, Gastroesophageal reflux, Atrial sept... ORPHA:2538
Autosomal Dominant Spastic Paraplegia Type 17
Hand muscle atrophy, Split hand, Hand muscle weakness ORPHA:100998
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Hypoplastic iliac wing, Hepatomegaly, Tricuspid regurgitation, Split hand, ... OMIM:253200
Charcot-Marie-Tooth Disease, Type 4B2
Ulnar claw, Hammertoe, Split hand, Talipes equinovarus OMIM:604563
Charcot-Marie-Tooth Disease And Deafness
Thenar muscle weakness, Hammertoe, Split hand, Thenar muscle atrophy OMIM:118300
Fatco Syndrome
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... ORPHA:2492
Eem Syndrome
Finger syndactyly, Ectrodactyly ORPHA:1897
Limb Body Wall Complex
Cutaneous finger syndactyly, Aplasia of the proximal phalanges of the hand, Atrial septal defect,... ORPHA:2369
Limb Defects, Distal Transverse, With Mental Retardation And Spasticity
Split hand OMIM:246555
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypo... OMIM:609945
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna ORPHA:1122
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla... ORPHA:2491
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Ulnar claw, Hammertoe, Split hand OMIM:118220
Mucolipidosis Ii Alpha/Beta
Cardiomegaly, Metaphyseal widening, Hepatomegaly, Split hand, Flat acetabular roof, Flared iliac ... OMIM:252500
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Rocker bottom foot, Single transverse palmar crease, Shor... OMIM:611890
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Short neck, Cleft palat... ORPHA:2345
Wiedemann-Rautenstrauch Syndrome
Long toe, Short humerus, Short femur, Short neck, Secundum atrial septal defect, Cryptorchidism, ... OMIM:264090
Charcot-Marie-Tooth Disease Type 4D
Hammertoe, Split hand, Distal upper limb muscle weakness, Upper limb amyotrophy ORPHA:99950
Acrocardiofacial Syndrome
Hallux valgus, Finger syndactyly, Toe syndactyly, Mitral stenosis, Ventricular septal defect, Cam... ORPHA:2008
Split-Hand/Foot Malformation 3
Split hand, High palate, Cleft palate, Camptodactyly OMIM:246560
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Split hand, Talipes equinovarus OMIM:607831
Jackson-Weiss Syndrome
Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe syndactyly, Symphalangism affecti... ORPHA:1540
Acces Syndrome
Hip dislocation, Tracheoesophageal fistula, Hip dysplasia, Split foot, Ectrodactyly, Clinodactyly... OMIM:619959
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Myopathy, Distal, 3
Joint contracture of the hand, Split hand OMIM:610099
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Limb-Mammary Syndrome
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Camptodactyly, Joint contracture... OMIM:603543
Spastic Paraplegia 17, Autosomal Dominant
Thenar muscle weakness, Split hand, Thenar muscle atrophy OMIM:270685
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta ORPHA:64754
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, High palate, Arachnodactyly, Long neck ORPHA:457359
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... OMIM:618167
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Tricuspid regurgitation, Bicuspid aortic valve, Bilateral single transverse palmar creases, Spina... ORPHA:1120
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal defect, Mic... ORPHA:1908
Ethanolaminosis
Cardiomegaly OMIM:227150
Zaki Syndrome
Toe syndactyly, Long fingers, Patent ductus arteriosus, Ectrodactyly, High palate, Broad distal p... OMIM:619648
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Ulnar claw, Hammertoe, Split hand OMIM:118200
Meckel Syndrome, Type 2
Encephalocele, Omphalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand poly... OMIM:603194
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
High, narrow palate, Split hand OMIM:618124
Coloboma Of Macula With Type B Brachydactyly
Type B brachydactyly, Bifid distal phalanx of the thumb, Coloboma, Absent distal phalanges, Broad... OMIM:120400
Alopecia-Intellectual Disability Syndrome
Split hand, Brachydactyly ORPHA:2850
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl... ORPHA:93320
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Radial club hand, Ulnar b... ORPHA:2878
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Cryptorchidism, Cleft palate, Ectrodactyly, Clinodactyly, Iris coloboma OMIM:147950
Brown-Vialetto-Van Laere Syndrome 2
Split hand, Dysphagia OMIM:614707
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Split hand OMIM:610127
Humero-Radial Synostosis
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Meningocele, Chorioretinal... ORPHA:3265
Autosomal Recessive Robinow Syndrome
Short neck, Abnormal tricuspid valve morphology, Clinodactyly of the 5th finger, Atrial septal de... ORPHA:1507
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Atrial septa... ORPHA:2911
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Elbow dislocation, Ulnar bowing, S... OMIM:171480
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Proximal muscle weakness in upper limbs, Hand muscle weakness, Split hand, Intrinsic hand muscle ... ORPHA:101097
Charcot-Marie-Tooth Disease, Dominant Intermediate G
Split hand OMIM:617882
Schisis Association
Encephalocele, Omphalocele, Spina bifida, Micromelia, Anencephaly, Tracheoesophageal fistula, Cle... ORPHA:63862
Tetramelic Monodactyly
Split hand, Oligodactyly ORPHA:2564
2Q24 Microdeletion Syndrome
Toe syndactyly, Camptodactyly of finger, Short neck, Long fingers, Bullet-shaped distal phalanx o... ORPHA:1617
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Split hand, Absent hand, Aniridia, Oligodactyly ORPHA:2440
Triploidy
Omphalocele, Hepatomegaly, Finger syndactyly, Intestinal malrotation, Short neck, Cryptorchidism,... ORPHA:3376
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Split hand, Intrinsic hand muscle atrophy OMIM:616688
Frontonasal Dysplasia 1
Postaxial hand polydactyly, Anterior basal encephalocele, Coloboma, Pectoral muscle hypoplasia/ap... OMIM:136760
Mucopolysaccharidosis Type 1
Inguinal hernia, Abnormal heart valve morphology, Malabsorption, Splenomegaly, Hydrocephalus, Spl... ORPHA:579
Hypertrophic Neuropathy Of Dejerine-Sottas
Ulnar claw, Hammertoe, Split hand OMIM:145900
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Cryptorchidism, Postaxial hand polydactyly, Patent... ORPHA:65759
Multicentric Osteolysis, Nodulosis, And Arthropathy
Hip contracture, Interphalangeal joint contracture of finger, Protrusio acetabuli, Metaphyseal wi... OMIM:259600
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Heterotaxy, Abnormal tricuspid valve morphology, Bacterial endocarditis, A... ORPHA:1330
Focal Dermal Hypoplasia
Congenital hip dislocation, Osteopathia striata, Short metatarsal, Anteriorly placed anus, Foot o... OMIM:305600
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue... ORPHA:958
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Short neck, Pericardial effusion, Cleft palate, Polydacty... OMIM:613885
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Hallux valgus, Dislocation of toes, Congenital hip dislocation, Left atr... OMIM:300280
Pelvis-Shoulder Dysplasia
Syndactyly, Camptodactyly of finger, Spina bifida, Aplasia/Hypoplasia of the fibula, Mesomelic/rh... ORPHA:2839
Renpenning Syndrome
Abnormal thumb morphology, High, narrow palate, Cleft palate, Heterotaxy, Clinodactyly of the 5th... ORPHA:3242
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly, Spinal dysraphism ORPHA:1114
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus, Hypoplasia of the radius, Rectal atresia, Perineal fistula, Ectrodactyly, Rectovag... ORPHA:3016
Cantu Syndrome
Bicuspid aortic valve, Broad hallux, Short hallux, Cardiomegaly, Pericardial effusion, Coxa valga... OMIM:239850
Congenital Neuronal Ceroid Lipofuscinosis
Split hand ORPHA:168486
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Short neck, Gastroesophageal reflux, Holoprosencephaly, Atrial septa... ORPHA:818
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Hydrocephalus, Congestive heart failure, High palate, M... OMIM:269920
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Talipes equinovarus, Split hand, Decreased testicular size OMIM:604168
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Hand muscle atrophy, Hand muscle weakness OMIM:607641
Hypoglossia-Hypodactyly Syndrome
Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Adactyly, Sp... ORPHA:989
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Dextrocardia, Proximal placement of thumb, Absent radius, Esophageal atresia, Hydr... OMIM:314390
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Tapered finger, Short 3rd toe, Short thumb, Muscular ventricular septal defect, Split hand, Intri... OMIM:618569
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Postaxial polydactyly OMIM:213010
Distal Limb Deficiencies-Micrognathia Syndrome
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosis, Abnormality of t... ORPHA:1307
Abruzzo-Erickson Syndrome
Toe syndactyly, Cryptorchidism, Short toe, Cleft palate, Ulnar deviation of finger, Coloboma, Rad... ORPHA:921
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... ORPHA:3312
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Femoral bowing, Foot oligodactyly, High palate, Aplasia/Hypoplasia of the tarsal bone... OMIM:276820
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Redundant neck skin, Single transverse palmar crease, Short neck, 2-3 toe syndactyly, Cutaneous s... OMIM:236500
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Caudal Duplication
Omphalocele, Spina bifida, Cryptorchidism, Myelomeningocele, Spinal cord lesion, Intestinal dupli... ORPHA:1756
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele, Bilateral cleft palate, Short femur, Ventricular septal defect, Anterior encephaloce... OMIM:601357
Joubert Syndrome 16
Encephalocele, Coloboma, Polydactyly OMIM:614465
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Brachydactyly, Toe syndactyly, Scapular winging, Camptodactyly of finger, Spina bi... ORPHA:1327
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Clinodactyly, Brac... OMIM:610140
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Abnormal anterior horn cell morphology OMIM:183020
Microphthalmia, Syndromic 8
Cryptorchidism, Split foot, Cleft palate OMIM:601349
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Short third metatarsal, Hand muscle atrophy, Camptodactyly of finger, Split hand, Weakness of lon... ORPHA:324442
Jawad Syndrome
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... OMIM:251255
Joubert Syndrome 18
Occipital encephalocele, Bowing of the long bones, Trident pelvis, Ventricular septal defect, Pos... OMIM:614815
15Q24 Microdeletion Syndrome
Proximal placement of thumb, Abnormal thumb morphology, Cryptorchidism, Myelomeningocele, Abnorma... ORPHA:94065
Neurooculocardiogenitourinary Syndrome
Redundant neck skin, Ventricular septal defect, Tricuspid regurgitation, Cardiomegaly, Bilateral ... OMIM:618652
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Meckel Syndrome, Type 4
Encephalocele, Bowing of the long bones, Ventricular septal defect, Hydrocephalus, Meningocele, A... OMIM:611134
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Tethered cord, Abnormal heart valve morphology, Arachnodactyly, Short ha... ORPHA:280
Ritscher-Schinzel Syndrome 1
Syndactyly, Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Cleft palate... OMIM:220210
Anophthalmia Plus Syndrome
Spina bifida, Cleft palate, Bilateral cleft lip and palate, Deviation of finger, Iris coloboma ORPHA:1104
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology, Dysphagia OMIM:611637
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Inguinal hernia, Camptodactyly of finger, Short neck, Cryptorchidism, Meningoc... ORPHA:2311
Craniorachischisis
Omphalocele, Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism... ORPHA:63260
Microphthalmia, Isolated 4
Coloboma, Absent testis, Postaxial polydactyly OMIM:613094
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Phocomelia, Split hand, Foot polydactyly, Duodenal atresia ORPHA:3004
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation, Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Spl... OMIM:252600
Developmental Delay, Language Impairment, And Ocular Abnormalities
Inguinal hernia, Tethered cord, Myelomeningocele, Pulmonic stenosis, Facial telangiectasia, Contr... OMIM:620141
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Wolf-Hirschhorn Syndrome
Single transverse palmar crease, Gastroesophageal reflux, Atrial septal defect, Iris coloboma, Te... OMIM:194190
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Cardiomeg... ORPHA:1517
Orofaciodigital Syndrome Xvii
Short neck, Short middle phalanx of the 2nd finger, High, narrow palate, Partial duplication of t... OMIM:617926
Sirenomelia
Spina bifida, Tracheoesophageal fistula, Sirenomelia, Aplasia/Hypoplasia of the radius, Anal atresia ORPHA:3169
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Meningocele, Clef... OMIM:614424
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology, Joint contracture of the hand, Talipes equinovarus OMIM:611067
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Congestive heart failure, Hydrocephalus, Cardiomegaly OMIM:300886
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Neonatal deat... OMIM:614096
Mosaic Trisomy 9
Micromelia, Short neck, Finger clinodactyly, High palate, Endocardial fibroelastosis, Atrial sept... ORPHA:99776
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly OMIM:615397
Chromosome 17P13.1 Deletion Syndrome
Hallux valgus, Arachnodactyly, Broad hallux, Proximal placement of thumb, Spina bifida, Tapered f... OMIM:613776
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Palmoplantar keratoderma, Cardiomegaly OMIM:613576
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Iliac crest serration, Micromelia, Cardiomegaly, Wide distal femoral metaphysis, Short neck, Dela... OMIM:613320
Iniencephaly
Encephalocele, Omphalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Hydrocephalus, Myelomen... ORPHA:63259
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Coloboma, Clinodactyly, Iris coloboma, Brachydactyly OMIM:610023
Bardet-Biedl Syndrome 7
Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly OMIM:615984
Trisomy 18
Holoprosencephaly, Atrial septal defect, Iris coloboma, Bilateral single transverse palmar crease... ORPHA:3380
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Right ventricular dilatation, Abnor... ORPHA:2041
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great a... OMIM:306955
Biemond Syndrome Type 2
Coloboma, Hydrocephalus, Preaxial polydactyly ORPHA:141333
Meckel Syndrome, Type 3
Occipital encephalocele, Hepatomegaly, Hydrocephalus, Postaxial hand polydactyly, Cleft palate, P... OMIM:607361
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Dysphagia ORPHA:247604
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ab... ORPHA:860
Bardet-Biedl Syndrome 19
Ventricular septal defect, Mesoaxial hand polydactyly, Partial atrioventricular canal defect, Pos... OMIM:615996
Meckel Syndrome, Type 10
Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polyd... OMIM:614175
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Atrial septal defec... OMIM:274000
Ciliary Dyskinesia, Primary, 14
Situs inversus totalis, Heterotaxy, Abnormal axonemal organization of respiratory motile cilia, A... OMIM:613807
Curry-Jones Syndrome
Anal stenosis, Intestinal pseudo-obstruction, Duplication of thumb phalanx, Intestinal malrotatio... OMIM:601707
Mulibrey Nanism
Hepatomegaly, Single transverse palmar crease, Cardiomegaly, Thickened cortex of long bones, Cong... OMIM:253250
Blepharocheilodontic Syndrome 1
Neural tube defect, Clinodactyly, Anal atresia, Cutaneous syndactyly OMIM:119580
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Short neck, Shoulder dislocation, Atrial septal defect, Pate... OMIM:245600
Verheij Syndrome
Branchial cyst, Ventricular septal defect, Short neck, Clinodactyly, Hip dislocation, Cleft palat... OMIM:615583
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric... OMIM:601005
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Exencephaly, B... ORPHA:2211
Vitamin K Antagonist Embryofetopathy
Short neck, Myelomeningocele, Hydrocephalus, Macroglossia, Epiphyseal stippling, Short distal pha... ORPHA:1914
Hypomelia With Mullerian Duct Anomalies
Postaxial hand polydactyly, Split hand OMIM:146160
Lateral Meningocele Syndrome
Inguinal hernia, Ventricular septal defect, Short neck, Cryptorchidism, High, narrow palate, Meni... ORPHA:2789
Bardet-Biedl Syndrome 4
Cryptorchidism, Brachydactyly, Polydactyly, Syndactyly OMIM:615982
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Hydrocephalus, Ventricular septal defect, Polydactyly OMIM:602501
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Inguinal hernia, Bicuspid aortic valve, Ventricular septal defect, Single transverse palmar creas... ORPHA:329224
Congenital Myopathy 8
Congestive heart failure, High palate, Cardiomegaly OMIM:618654
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Split hand, Hypoplasia of the radiu... OMIM:200980
Diaphanospondylodysostosis
Narrow pelvis bone, Myelomeningocele, Cleft palate, Short neck ORPHA:66637
Alg3-Cdg
Abnormality of the gastrointestinal tract, Metaphyseal chondrodysplasia, Abnormal limb bone morph... ORPHA:79321
Duane-Radial Ray Syndrome
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Atrial septal defect, Spina bifi... OMIM:607323
Fountain Syndrome
Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Spina bifida, Large h... ORPHA:3219
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Wildervanck Syndrome
Webbed neck, Meningocele, Low posterior hairline, Short neck ORPHA:3456
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Ventricular septal defect, Fractured radius, Decreased fibular diameter, Cardiomegal... OMIM:616897
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia, Dysphagia OMIM:207950
Adams-Oliver Syndrome 5
Syndactyly, Brachydactyly, Inguinal hernia, Splenomegaly, Right atrial enlargement, Esophageal va... OMIM:616028
Neu-Laxova Syndrome 2
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Short neck, Cleft palate, Hi... OMIM:616038
Jacobsen Syndrome
Short neck, Long hallux, Iris coloboma, Abnormality of the anus, Broad hallux phalanx, Finger syn... ORPHA:2308
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Abnormal thumb morphology, Protruding tong... ORPHA:324410
Suleiman-El-Hattab Syndrome
Inguinal hernia, Ventricular septal defect, Single transverse palmar crease, Cryptorchidism, Poly... OMIM:618950
Laurin-Sandrow Syndrome
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Tarsal synostosis, Abnormalit... ORPHA:2378
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Proximal placement of thumb, ... ORPHA:1896
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys... ORPHA:85451
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Orofaciodigital Syndrome Xviii
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va... OMIM:617927
Orofaciodigital Syndrome Vi
Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Ha... OMIM:277170
Double Outlet Right Ventricle
Tachycardia, Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Doub... ORPHA:3426
Lethal Congenital Contracture Syndrome 10
Omphalocele, Torticollis, Overriding aorta, Ventricular septal defect, Stiff neck, Cardiomegaly, ... OMIM:617022
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Cardiomegaly, Gastrointestinal dysmotility, Gastroesophageal reflux, Finge... ORPHA:363705
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Short neck, Coloboma, Short palm, Clinodactyly of the 5th finger, Atrioven... ORPHA:508498
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Cerebrocostomandibular Syndrome
Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Cleft palate, Glossoptosi... ORPHA:1393
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Dextrocardia, Mesoaxial hand polydactyly, Situs i... OMIM:615994
Pelger-Huet Anomaly
Ventricular septal defect, Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Umbilical h... OMIM:169400
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Toe syndactyly, Cryptorchidism, Split hand, Cleft palate ORPHA:1300
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Short fourth metatarsal, Brachydactyly, Inguinal hernia, Single transverse palmar c... OMIM:618143
Ritscher-Schinzel Syndrome 2
Prominent fingertip pads, Syndactyly, Ventricular septal defect, Broad hallux, Overlapping toe, C... OMIM:300963
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Inguinal hernia, Tapered finger, Short neck, Flattened epiphysis, Genu valg... OMIM:607131
Bardet-Biedl Syndrome 16
Polydactyly OMIM:615993
Lateral Meningocele Syndrome
Inguinal hernia, Tethered cord, Bicuspid aortic valve, Ventricular septal defect, Short neck, Cry... OMIM:130720
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Omphalocele, Inguinal hernia, Aganglionic megacolon, Cryptorchidism, Postaxial hand polydactyly, ... OMIM:308205
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Meningocele, Syringomyelia, Chorioretinal coloboma ORPHA:2481
Congenital Toxoplasmosis
Hepatomegaly, Hydrocephalus, Cardiomegaly ORPHA:858
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Congestive heart failure, Abnormal motor neuron morphology, Abnorm... ORPHA:52430
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, First degree at... OMIM:115197
Otopalatodigital Syndrome Type 2
Preaxial polydactyly, Glossoptosis, Short palm, Synostosis of carpal bones, Encephalocele, Short ... ORPHA:90652
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Coloboma ORPHA:324416
Hartsfield Syndrome
Syndactyly, Alobar holoprosencephaly, Cryptorchidism, Cleft palate, Lobar holoprosencephaly, Ectr... OMIM:615465
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Situs inversus totalis, Absent outer dynein arms, Patent ductus arteriosus, Azoos... OMIM:618300
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Hypoplastic right heart, Overlapping toe, Postaxial polydactyly, Paten... OMIM:618142
Orofaciodigital Syndrome Type 4
Decreased testicular size, Finger syndactyly, Monorchism, Camptodactyly of finger, Micromelia, Pr... ORPHA:2753
Ivic Syndrome
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... OMIM:147750
Lethal Acantholytic Erosive Disorder
Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Cardiomyopathy, Impaire... ORPHA:158687
Bardet-Biedl Syndrome 8
Situs inversus totalis, Postaxial polydactyly OMIM:615985
Congenital Sialidosis Type 2
Hepatomegaly, Inguinal hernia, Abnormal EKG, Protruding tongue, Hydrocephalus, Hepatosplenomegaly... ORPHA:93400
Orofaciodigital Syndrome Viii
Syndactyly, Cleft palate, High palate, Polydactyly, Short tibia OMIM:300484
Trisomy 20P
Finger syndactyly, Inguinal hernia, Camptodactyly of finger, Spina bifida, Short neck, Cryptorchi... ORPHA:261318
9Q21.13 Microdeletion Syndrome
Cryptorchidism, Gastrointestinal dysmotility, Abnormal tongue morphology, Abnormal heart morpholo... ORPHA:531151
Basal Cell Nevus Syndrome 1
Down-sloping shoulders, Spina bifida, Palmar pits, Hydrocephalus, Hamartomatous stomach polyps, I... OMIM:109400
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Short neck, Cryptorchidism, Coloboma, Macroglossia, Transposition of the great arteries, Talipes ... OMIM:616789
Cloacal Exstrophy
Omphalocele, Intestinal malrotation, Spina bifida, Myelomeningocele, Abnormal tibia morphology, A... ORPHA:93929
Phaver Syndrome
Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Short thumb, Myelomenin... ORPHA:2876
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Adams-Oliver Syndrome 6
Syndactyly, Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly... OMIM:616589
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Short fourth metatarsal, Short neck, Cryptorchidism, Patellar hypoplasia, Abnormal conus terminal... ORPHA:464288
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Micromelia, Postaxial polydactyly, Hamartoma of tongue, Aplastic clavicle, Hydrocephalus, Short n... OMIM:616546
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
3P25.3 Microdeletion Syndrome
Ventricular septal defect, Broad hallux, Proximal placement of thumb, Tapered finger, Overlapping... ORPHA:435638
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Intestinal malrotation, Micromelia, Postaxial polydactyly, Single transverse palma... OMIM:617866
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Short neck, Short metatarsal, Femoral bowing, Tibial bowing, Atrial s... OMIM:304120
D-Bifunctional Protein Deficiency
Hepatomegaly, Splenomegaly, Split hand, Hammertoe, High palate, Talipes equinovarus OMIM:261515
Neu-Laxova Syndrome 1
Micromelia, Short neck, Calcaneovalgus deformity, Neonatal death, Patent foramen ovale, Finger sy... OMIM:256520
Nail-Patella Syndrome
Biceps aplasia, Glenoid fossa hypoplasia, Spina bifida, Triceps aplasia, Patellar aplasia, Hypopl... OMIM:161200
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Inguinal hernia, Toe syndactyly, Absence of Stensen duct, Cryptorchidism, Split hand, Xerostomia,... OMIM:129900
Spondylocostal Dysostosis 4, Autosomal Recessive
Anal stenosis, Dextrocardia, Short neck, Situs inversus totalis, Myelomeningocele, Hydrocephalus,... OMIM:613686
Meckel Syndrome 14
Occipital encephalocele, Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Postaxial... OMIM:619879
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Hepatomegaly, Portal hypertension, Splenomegaly, Postaxia... OMIM:216360
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Cleft soft palate,... ORPHA:2756
Mohr Syndrome
Syndactyly, Preaxial hand polydactyly, Hydrocephalus, Postaxial hand polydactyly, Flared metaphys... OMIM:252100
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Prominent fingertip pads, Bicuspid aortic valve, Arachnodactyly, Postaxial polydactyly, Tapered f... OMIM:619721
Joubert Syndrome 7
Encephalocele, Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum OMIM:611560
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo... OMIM:616749
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... ORPHA:615
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septal defect, Hyp... OMIM:620135
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Split hand, Clubbing, Cleft ... OMIM:600460
Hypoglossia-Hypodactylia
Microglossia, Adactyly, Split hand, Aglossia OMIM:103300
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly ORPHA:85447
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Cardiomegaly ORPHA:88643
Sacral Defect With Anterior Meningocele
Myeloschisis, Tethered cord, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hy... OMIM:600145
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Finger syndactyly, Toe syndactyly, Elbow dislocation, Patent ductus arteriosus, Aplasia/Hypoplasi... ORPHA:1112
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Clinodactyly of the 5th finger, Glossoptosis, Meningocele, Chorioretinal coloboma ORPHA:2031
Holt-Oram Syndrome
Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnormal carpal morphology... OMIM:142900
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Clinodactyly of the 5th finger, High palate, Polydactyly, Upper limb asymmetry ORPHA:231140
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Telangiectasia, Azoospermia, ... OMIM:235200
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Redundant neck skin, Single transverse palmar crease... ORPHA:3472
Acromelic Frontonasal Dysplasia
Encephalocele, Cryptorchidism, Meningocele, Patellar hypoplasia, Talipes equinovarus, Preaxial fo... ORPHA:1827
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Pseudobulbar paralysis, Dysphagia OMIM:606353
Histiocytosis-Lymphadenopathy Plus Syndrome
Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Hepatomegaly, Patent duc... OMIM:602782
Enlarged Parietal Foramina
Occipital encephalocele, Myelomeningocele, Cleft palate, Short clavicles, Broad thumb ORPHA:60015
Retinitis Pigmentosa 89
Esophageal varix, Bicuspid aortic valve, Postaxial polydactyly, Hepatosplenomegaly OMIM:618955
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Anal stenosis, Toe syndactyly, Absence of Stensen duct, Cryptorchidism, Split hand, Xerostomia, C... OMIM:604292
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... OMIM:617102
Neuraminidase Deficiency
Hepatomegaly, Inguinal hernia, Cardiomegaly, Splenomegaly, Epiphyseal stippling, Cardiomyopathy OMIM:256550
Fanconi Anemia
Abnormal femur morphology, High palate, Triphalangeal thumb, Atrial septal defect, Clinodactyly o... ORPHA:84
Phakomatosis Pigmentokeratotica
Spina bifida, Raynaud phenomenon, Cryptorchidism, Coloboma, Hemiatrophy, Arrhythmia ORPHA:2874
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Toe syndactyly, Ventricular septal defect, Dextrocardia, Intestinal malrotation, Bilateral single... OMIM:619657
Charcot-Marie-Tooth Disease Type 1E
Hand muscle atrophy, Hand muscle weakness, Split hand, Hammertoe, Hyporeflexia of upper limbs, Jo... ORPHA:90658
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... ORPHA:57777
Tarp Syndrome
Meckel diverticulum, Rocker bottom foot, Postaxial polydactyly, Single transverse palmar crease, ... OMIM:311900
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Micromelia, Postaxial polydactyly, Sh... OMIM:614091
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Omphalocele, Rhizomelia, Postaxial polydactyly, Hamartoma of tongue, Cryptorchidis... OMIM:616300
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal joint contracture of fin... ORPHA:1145
Bardet-Biedl Syndrome 9
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... OMIM:615986
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Isolated Posterior Meningocele
Tethered cord, Hydrocephalus, Lipomyelomeningocele, Meningocele, Limitation of neck motion, Neura... ORPHA:268810
Joubert Syndrome 23
Coloboma, Polydactyly OMIM:616490
Adult Syndrome
Split foot, Toe syndactyly, Split hand OMIM:103285
Joubert Syndrome 22
Postaxial foot polydactyly, Coloboma, Postaxial hand polydactyly, 2-3 toe syndactyly OMIM:615665
Vater/Vacterl Association
Occipital encephalocele, Syndactyly, Tethered cord, Ventricular septal defect, Spina bifida, Abse... OMIM:192350
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Abnormal metacarpophalangeal joint morphology, Cholangiocarcinoma, Portal hypertens... ORPHA:465508
Rhombencephalosynapsis
Finger syndactyly, Aganglionic megacolon, Esophageal atresia, Hydrocephalus, Tracheoesophageal fi... ORPHA:59315
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Inguinal hernia, Arachnodactyly, Bicuspid aortic valve, Transient ischemic ... ORPHA:91387
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Abnormal mitochondrial morphology, Dysphagia, Abnormal up... ORPHA:275872
Acro-Renal-Ocular Syndrome
Coloboma, Chorioretinal coloboma, Triphalangeal thumb, Iris coloboma, Hypoplasia of the ulna, Fin... ORPHA:959
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Hamartoma of tongue, Cleft palate, Lobulated tongue, Hand ... OMIM:258860
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Endoc... OMIM:212140
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Cryptorchidism, Polydactyly, Hypoplastic ischia OMIM:616910
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormality of the gastrointestinal tract, Bicuspid aortic valve, Ventricular septal defect, Cryp... ORPHA:453499
Acrocallosal Syndrome
Coloboma, High palate, Clinodactyly of the 5th finger, Bifid uvula, Finger syndactyly, Tapered fi... OMIM:200990
Refsum Disease, Classic
Short fourth metatarsal, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia OMIM:266500
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly OMIM:617119
Constricting Bands, Congenital
Encephalocele, Syndactyly, Omphalocele, Cleft palate, Hand polydactyly, Talipes equinovarus, Gast... OMIM:217100
Pagod Syndrome
Encephalocele, Omphalocele, Spina bifida, Sudden cardiac death, Situs inversus totalis, Meningoce... ORPHA:991
Meckel Syndrome, Type 1
Occipital encephalocele, Short neck, Lobulated tongue, Iris coloboma, Syndactyly, Cryptorchidism,... OMIM:249000
Nephronophthisis 15
Polydactyly OMIM:614845
Trisomy 8Q
Camptodactyly of finger, Short neck, Cryptorchidism, Myelomeningocele, Cleft palate, Deep palmar ... ORPHA:1752
Vacterl With Hydrocephalus
Inguinal hernia, Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Hypoplasia of ... ORPHA:3412
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Dysphagia OMIM:607225
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, Hydrocephalu... OMIM:261740
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Abnormal acetabulum morphology, Redundant neck skin, Postaxial polydacty... ORPHA:397715
Fryns Microphthalmia Syndrome
Neural tube defect, Bilateral cleft lip and palate OMIM:600776
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Syndactyly, Ventricular septal defect, Micromelia, Postaxial polydactyly, Hypoplasti... OMIM:617895
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly OMIM:619064
Campomelic Dysplasia
Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia, Femoral bowing, Tib... OMIM:114290
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long toe, Hepatomegaly, Tapered toe, Cardiomegaly, Tapered finger, Long fingers, Antenatal intrac... OMIM:608836
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Arachnodactyly, Cardiomegaly, Thenar muscle atrophy, Thin metatarsal c... ORPHA:2463
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... OMIM:614473
Waardenburg Syndrome Type 1
Cleft palate, Meningocele, Aganglionic megacolon, Spina bifida ORPHA:894
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Anal atresia, Metaphyseal spurs, Postaxial polydactyly, Hamartoma of tong... OMIM:613091
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Acromelic Frontonasal Dysostosis
Encephalocele, Syndactyly, Remnants of the hyaloid vascular system, Cryptorchidism, Preaxial poly... OMIM:603671
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Dysphagia OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Dysphagia OMIM:616437
Diets-Jongmans Syndrome
Inguinal hernia, Ventricular septal defect, Cryptorchidism, Heterotaxy, Hip dysplasia, Umbilical ... OMIM:618846
Endocrine-Cerebroosteodysplasia
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... OMIM:612651
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Cardiomegaly OMIM:614702
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
22Q11.2 Deletion Syndrome
Short neck, Anorectal anomaly, Gastroesophageal reflux, Atrial septal defect, Arachnodactyly, Spi... ORPHA:567
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Proximal muscle weakness in upper limbs, Amyotrophic late... OMIM:613954
Orofaciodigital Syndrome V
Ventricular septal defect, Unilateral cryptorchidism, Sandal gap, Postaxial polydactyly, Hamartom... OMIM:174300
Hallermann-Streiff Syndrome
Spina bifida, Abnormality of the hand, Cryptorchidism, Metaphyseal widening, Optic disc coloboma,... OMIM:234100
Townes-Brocks Syndrome 1
Short metatarsal, Gastroesophageal reflux, Holoprosencephaly, Chorioretinal coloboma, Triphalange... OMIM:107480
Rubinstein-Taybi Syndrome 1
Single transverse palmar crease, Bilateral cryptorchidism, High, narrow palate, Coloboma, Hepatic... OMIM:180849
Pallister-Hall Syndrome
Anteriorly placed anus, Holoprosencephaly, Neonatal death, Distal shortening of limbs, Syndactyly... OMIM:146510
Carpenter Syndrome 2
Single transverse palmar crease, Short neck, Bilateral cryptorchidism, High, narrow palate, Preax... OMIM:614976
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Orofaciodigital Syndrome I
Syndactyly, Hamartoma of tongue, Myelomeningocele, Hydrocephalus, Cleft palate, Abnormal heart mo... OMIM:311200
Spastic Paraplegia 9A, Autosomal Dominant
Hiatus hernia, Abnormal pelvic girdle bone morphology, Gastroesophageal reflux, Abnormal upper mo... OMIM:601162
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Mitral regurgitation, Atrial sep... OMIM:603387
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Finger syndac... OMIM:308050
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Abnormal jug... ORPHA:1677
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly, Retinal coloboma, Iris coloboma, Chorioretinal coloboma ORPHA:2921
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Omphalocele, Inguinal hernia, Abnormal pelvis bone morphology, Aganglionic megacolon, Camptodacty... ORPHA:2273
Ogden Syndrome
Congenital hip dislocation, Bicuspid aortic valve, Redundant neck skin, Cardiomegaly, Secundum at... OMIM:300855
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... OMIM:217095
Amish Lethal Microcephaly
Hepatomegaly, Cleft soft palate, Spina bifida ORPHA:99742
20P13 Microdeletion Syndrome
Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly ORPHA:313781
Au-Kline Syndrome
Thickened nuchal skin fold, Overlapping toe, Postaxial polydactyly, Coxa valga, Cryptorchidism, L... OMIM:616580
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Abnormality of the hand OMIM:221770
Adult Syndrome
Finger syndactyly, Toe syndactyly, Split foot ORPHA:978
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly OMIM:600649
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Bilateral cryptorchidism, Central Y-shape... ORPHA:2754
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Necrotizing enterocolitis, Sudden cardiac death, Cardiomegaly, Reduced left ventric... OMIM:201475
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Syndactyly, Ventricular septal defect, Single transver... ORPHA:1708
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... ORPHA:85167
Alpha-N-Acetylgalactosaminidase Deficiency
Gastroesophageal reflux, Cardiomegaly ORPHA:3137
Mucopolysaccharidosis Type 3
Hepatomegaly, Inguinal hernia, Cardiomegaly, Abnormal myocardium morphology, Splenomegaly, Hydroc... ORPHA:581
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Gastrointestinal dysmotility, Dysphagia, Cardiomegaly ORPHA:391428
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Lathosterolosis
Hepatomegaly, Toe syndactyly, Postaxial hand polydactyly, Meningocele, Postaxial foot polydactyly... ORPHA:46059
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Arrhythmia, Cardiomegaly ORPHA:42
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Abnormal cardiac septum morphology, Tracheoesophageal fis... ORPHA:93941
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Limited elbow movement, ... ORPHA:268
Joubert Syndrome 39
Occipital encephalocele, Hypoplastic left heart, Joint contracture of the 5th finger, Postaxial p... OMIM:619562
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Torticollis, Tethered cord, Spina bifida, Tapered finger, Patent ductus arteriosus, Gastroesophag... OMIM:619480
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Complete atrioventricular canal defect, Genu valgum, Limb undergrowth, Atr... OMIM:619142
Neurodegeneration And Seizures Due To Copper Transport Defect
Thickened nuchal skin fold, Short femur, Tricuspid regurgitation, Cardiomegaly, Talipes equinovar... OMIM:620306
Cree Mental Retardation Syndrome
Cleft soft palate, Rocker bottom foot, Cryptorchidism, Coloboma, Cutaneous finger syndactyly, Web... OMIM:606851
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur, Hepatosplenomegaly ORPHA:99931
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Syndactyly, Congenital hip dislocation, Cubitus valgus, Hydrocephalus, Patent ductus arteriosus, ... OMIM:104350
Adnp Syndrome
Inguinal hernia, Broad hallux, Sandal gap, Single transverse palmar crease, Oral-pharyngeal dysph... ORPHA:404448
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Dysphagia, Abnormal upper mot... ORPHA:35689
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Hand muscle weakness, Shou... OMIM:606070
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Hand muscle atrophy, Amyotrophic lateral sclerosis, Retro... OMIM:205100
Lumbar Syndrome
Spina bifida, Cryptorchidism, Myelomeningocele, Ectopic anus, Bladder exstrophy, Anal atresia ORPHA:83628
Miller-Dieker Lissencephaly Syndrome
Omphalocele, Inguinal hernia, Single transverse palmar crease, Cryptorchidism, Cleft palate, Abno... OMIM:247200
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... ORPHA:137675
Beck-Fahrner Syndrome
High palate, Hip dysplasia, Ventricular septal defect, Cardiomegaly OMIM:618798
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele, Hip dislocation, Bilateral cleft lip and palate ORPHA:2003
Bardet-Biedl Syndrome 1
Syndactyly, Aganglionic megacolon, Postaxial polydactyly, High, narrow palate, Postaxial hand pol... OMIM:209900
Pseudoaminopterin Syndrome
Brachydactyly, Inguinal hernia, Overlapping toe, Single transverse palmar crease, Postaxial polyd... ORPHA:221120
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, High palate, Atrial septal defe... ORPHA:79330
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... ORPHA:555874
Joubert Syndrome 27
Polydactyly OMIM:617120
Laurence-Moon Syndrome
Polydactyly, Abnormality of the hand OMIM:245800
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Short neck, Delayed epiphyseal ossification, Preaxia... OMIM:210710
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Okamoto Syndrome
Omphalocele, Exaggerated median tongue furrow, Anal stenosis, Tethered cord, Ventricular septal d... ORPHA:2729
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Bicuspid aortic valve, Ventricular septal defect, Postaxial pol... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Bicuspid aortic valve, Ventricular septal defect, Postaxial pol... ORPHA:352665
Marfan Syndrome
Mitral valve calcification, Inguinal hernia, Arachnodactyly, Protrusio acetabuli, Limited elbow m... ORPHA:558
Esophageal Atresia
Omphalocele, Barrett esophagus, Ventricular septal defect, Intestinal malrotation, Pyloric stenos... ORPHA:1199
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Arrhythmia, Cardiomegaly OMIM:255120
Retinitis Pigmentosa 51
Polydactyly OMIM:613464
Familial Aortic Dissection
Aortic regurgitation, Patent ductus arteriosus, Abnormal left ventricular function, Cardiomegaly ORPHA:229
Simpson-Golabi-Behmel Syndrome, Type 1
Narrow greater sciatic notch, Short palm, Atrial septal defect, Hepatoblastoma, Hepatomegaly, Exa... OMIM:312870
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Hamartoma of tongue, Esophageal diverticulum, Complete atrioventricular ca... OMIM:617925
Cranioectodermal Dysplasia 2
Hepatomegaly, Syndactyly, Inguinal hernia, Rhizomelia, Short neck, Splenomegaly, Postaxial hand p... OMIM:613610
Williams Syndrome
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Rectal prolapse, Abnormality of the n... ORPHA:904
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated... OMIM:614921
Stromme Syndrome
Jejunal atresia, Intestinal malrotation, Hydrocephalus, Preaxial polydactyly, Cleft palate, Still... OMIM:243605
Tarp Syndrome
Finger syndactyly, Rocker bottom foot, Postaxial polydactyly, Single transverse palmar crease, Cr... ORPHA:2886
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval, He... ORPHA:308552
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Heart block, High, narrow palate, Hydrocephalus, Cardiomyopathy, Abno... ORPHA:228308
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Orthostatic hypotension OMIM:263570
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Bicuspid pulmonary valve, Atrial septal defect, Bifid uvula, Syndactyly, A... OMIM:610168
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aqueductal stenosis, Secundum atrial septal defect, Primum atrial septal defect, Coloboma, Inlet ... OMIM:619534
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Ventricular septal defect, Postaxial polydactyly, Preaxial polydactyly, Femoral bowin... OMIM:615503
Neu-Laxova Syndrome
Spina bifida, Micromelia, Submucous cleft hard palate, Cleft palate, Large hands, Bifid uvula ORPHA:2671
Oeis Complex
Omphalocele, Tethered cord, Congenital hip dislocation, Intestinal malrotation, Cryptorchidism, M... OMIM:258040
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Hydrocephalus, Aortic valve... OMIM:231005
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... OMIM:602433
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Prominent fingertip pads, Anomaly of lower limb diaphyses, Bicuspid aortic v... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Prominent fingertip pads, Anomaly of lower limb diaphyses, Bicuspid aortic v... ORPHA:363958
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy OMIM:617713
Charge Syndrome
Abnormal palmar dermatoglyphics, Secundum atrial septal defect, Hand monodactyly, Coloboma, Holop... OMIM:214800
Arima Syndrome
Hepatomegaly, Postaxial hand polydactyly, Esophageal varix, Postaxial foot polydactyly, Hypertens... OMIM:243910
Aicardi Syndrome
Spina bifida, Hiatus hernia, Proximal placement of thumb, Optic disc coloboma, Cleft palate, Hepa... OMIM:304050
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Heterota... ORPHA:99125
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short long bone, Polydactyly, Brachydactyly OMIM:613819
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Cardiomegaly, Congestive heart fa... ORPHA:980
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Aortic regurgitation, Toe syndactyly, Ventricular septal defect, Arachnodactyly, C... ORPHA:464306
Bohring-Opitz Syndrome
Ulnar deviation of the wrist, Cardiomegaly, Bilateral wrist flexion contracture, Cleft palate, Co... ORPHA:97297
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology OMIM:215470
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Ventricular septal defect, Broad hallux, Hamartoma of tongue, Cryptorchi... OMIM:615948
Monosomy 9Q22.3
Short neck, Palmar pits, Hydrocephalus, Cardiac fibroma, Polydactyly, Umbilical hernia ORPHA:77301
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Patent ductus arteriosus, Aortic v... ORPHA:1457
Cerebrooculonasal Syndrome
Encephalocele, Postaxial polydactyly, Hydrocephalus, Postaxial hand polydactyly, Narrow palate, C... OMIM:605627
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Coloboma, High palate, Gastroesophageal reflux, Cervical cord compression,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Coloboma, High palate, Gastroesophageal reflux, Cervical cord compression,... ORPHA:353277
Split Cord Malformation
Tethered cord, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydroc... ORPHA:573278
Roberts-Sc Phocomelia Syndrome
Short neck, Tetraphocomelia, Coloboma, High palate, Atrial septal defect, Phocomelia, Wrist flexi... OMIM:268300
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hallux valgus, Aortic regurgitation, Inguinal hernia, Ventricular septal defect, Abnormal pulmona... ORPHA:268261
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventricular septal defect, Postaxial polydactyly OMIM:219730
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Gastroesophageal reflux, Short 4th toe, Prominent fingertip pads, Clinodacty... OMIM:615873
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage, Cardiomegaly OMIM:618886
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Septooptic Dysplasia
Polydactyly, Short finger OMIM:182230
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Neonatal death OMIM:253310
Degcags Syndrome
Oral-pharyngeal dysphagia, High palate, Gastroesophageal reflux, Atrial septal defect, Patent for... OMIM:619488
Neurofibromatosis, Type I
Spina bifida, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthrosis, Genu valgum, Hypertension OMIM:162200
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... OMIM:232300
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Submucou... OMIM:300967
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
High palate, Polydactyly, Abnormal heart morphology ORPHA:314655
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head OMIM:616629
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Coloboma, Gastroesophageal reflux, Cervical cord compression, Atrial septa... ORPHA:353281
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Cardiomegaly, Hepatosplenomegaly, Macroglossia OMIM:268800
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly OMIM:105210
Schinzel-Giedion Syndrome
Inguinal hernia, Overlapping fingers, Overlapping toe, Aganglionic megacolon, Short neck, Hypopla... ORPHA:798
Pallister-Hall Syndrome
Holoprosencephaly, Atrial septal defect, Atrioventricular canal defect, Bifid uvula, Mesoaxial po... ORPHA:672
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Dysphagia, Neonatal death OMIM:608013
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Patent duc... ORPHA:3427
Proteasome-Associated Autoinflammatory Syndrome 1
Hallux valgus, Hepatomegaly, Hypoplastic scapulae, Camptodactyly of finger, Cardiomegaly, Splenom... OMIM:256040
Fucosidosis
Hepatomegaly, Coxa valga, Cardiomegaly, Splenomegaly, Macroglossia OMIM:230000
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... ORPHA:3384
Semilobar Holoprosencephaly
Hydrocephalus, Hip dislocation, Cleft palate, Abnormal heart morphology, Abnormal heart rate vari... ORPHA:220386
Alobar Holoprosencephaly
Hydrocephalus, Hip dislocation, Cleft palate, Abnormal heart morphology, Abnormal heart rate vari... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Hip dislocation, Cleft palate, Abnormal heart morphology, Abnormal heart rate vari... ORPHA:93926
Lobar Holoprosencephaly
Hydrocephalus, Hip dislocation, Cleft palate, Abnormal heart morphology, Abnormal heart rate vari... ORPHA:93924
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus, Partial an... ORPHA:95430
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Patent ductus arteriosus, ... ORPHA:96191
Japanese Encephalitis
Hyperintensity of MRI T2 signal of the spinal cord, Stiff neck, Paucity of anterior horn motor ne... ORPHA:79139
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Congestive heart failure, Cardiomegaly OMIM:619259
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Short humerus, Abnormal mitochondrial shape, Short femur, Patent ductus arteriosus,... ORPHA:17
Abetalipoproteinemia
Hepatomegaly, Cardiomegaly, Congestive heart failure, Talipes equinovarus, Steatorrhea, Fat malab... ORPHA:14
Exstrophy-Epispadias Complex
Abnormality of the gastrointestinal tract, Omphalocele, Anal stenosis, Inguinal hernia, Spina bif... ORPHA:322
Kinsship Syndrome
Single transverse palmar crease, Coxa valga, Short neck, Hip dislocation, Fibular hypoplasia, Pol... OMIM:619297
Holoprosencephaly 7
Omphalocele, Bilateral cleft palate, Median cleft lip and palate, Alobar holoprosencephaly, Hydro... OMIM:610828
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Transient ischemic attack, Cardiomegaly, Vasculitis, Shortened PR interval, Left ve... ORPHA:365
Thauvin-Robinet-Faivre Syndrome
Inguinal hernia, Ventricular septal defect, Bowing of the legs, Mitral valve prolapse, Coloboma, ... OMIM:617107
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension OMIM:208000
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Dextrocardia, Left Isomerism, Situs inversus totalis, Patent foramen o... OMIM:619702
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Bardet-Biedl Syndrome 20
Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, 2-3 toe syndactyly, ... OMIM:619471
Rabson-Mendenhall Syndrome
Enlarged ovaries, Ventricular septal defect, Furrowed tongue, Cardiomyopathy, Macroglossia, Polyd... ORPHA:769
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Inguinal hernia, Cardiomegaly, Large placenta, Cryptorchidism, Splenom... ORPHA:116
Singleton-Merten Syndrome 1
Mitral valve calcification, Hypoplastic distal radial epiphyses, Cardiomegaly, Coxa valga, Aortic... OMIM:182250
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Flexion contracture of finger, Meningocele, Palmoplantar keratoderma ORPHA:1010
Liver Disease, Severe Congenital
Hepatomegaly, Chronic gastritis, Inguinal hernia, Ventricular septal defect, Left atrial enlargem... OMIM:619991
Fanconi Anemia, Complementation Group E
Prolonged G2 phase of cell cycle OMIM:600901
Fanconi Anemia, Complementation Group A
Prolonged G2 phase of cell cycle OMIM:227650
Sickle Cell Disease
Splenomegaly, Hepatomegaly, Hypertension, Cardiomegaly OMIM:603903
Knobloch Syndrome 1
Occipital encephalocele, Pyloric stenosis, Patent ductus arteriosus, Occipital meningocele, Spina... OMIM:267750
Fanconi Anemia, Complementation Group D2
Patent ductus arteriosus, Prolonged G2 phase of cell cycle OMIM:227646
Senior-Loken Syndrome 8
Polydactyly OMIM:616307
Legius Syndrome
Paroxysmal atrial tachycardia, Desmoid tumors, Mitral valve prolapse, Diaphyseal dysplasia, Polyd... ORPHA:137605
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Patent ductus arte... OMIM:617088
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... OMIM:607932
Microphthalmia, Syndromic 1
Bicuspid aortic valve, Abnormal palmar dermatoglyphics, High, narrow palate, Rectal prolapse, Hig... OMIM:309800
Bardet-Biedl Syndrome 12
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly OMIM:615989
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Cardiomyopathy, ... OMIM:130650
Fanconi Anemia, Complementation Group C
Prolonged G2 phase of cell cycle OMIM:227645
Neurocardiofaciodigital Syndrome
Syndactyly, Patent ductus arteriosus, Double inlet left ventricle, Polydactyly, High palate, Atri... OMIM:619869
Mullegama-Klein-Martinez Syndrome
Cleft palate, Submucous cleft of soft and hard palate, Polydactyly, Hypoplastic left heart, Apica... OMIM:301022
Choanal Atresia
Polydactyly ORPHA:137914
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Retinal h... ORPHA:51608
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly OMIM:618278
Aicardi-Goutières Syndrome
Raynaud phenomenon, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:51
Faciocardiomelic Syndrome
Slender long bone, Common atrium, Polydactyly, Hypoplastic pelvis OMIM:612731
Combined Pituitary Hormone Deficiencies, Genetic Forms
Polydactyly, Holoprosencephaly, Hypotension, Abnormal digit morphology, Decreased testicular size... ORPHA:95494
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly ORPHA:79280
Lacrimoauriculodentodigital Syndrome 1
Hypoplasia of the ulna, Broad hallux, Absence of Stensen duct, Aplasia of the parotid gland, Abse... OMIM:149730
Retinitis Pigmentosa 74
Polydactyly OMIM:616562
Tumor Predisposition Syndrome 2
Adenomatous colonic polyposis, Colon cancer OMIM:619975
Melanoma, Uveal, Susceptibility To, 1
OMIM:606660

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Mbd4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mbd4.

No publications found that use IMPC mice or data for Mbd4.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Mbd4tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mbd4tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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