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

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.

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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Brachydactyly, Type C
Short middle phalanx of finger, Talipes equinovarus, Short 1st metacarpal, Brachydactyly, Pseudoe... OMIM:113100
Split-Hand/Foot Malformation 1
Cleft palate, Hand oligodactyly, Triphalangeal thumb, Clinodactyly, Split hand, Syndactyly, Broad... OMIM:183600
Czeizel-Losonci Syndrome
Dextrocardia, High palate, Radial deviation of the thumb, Myelomeningocele, 3-4 finger syndactyly... ORPHA:2437
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of the phalanges of the toes, Triphalangeal thumb, Aplasia/Hypoplasia of metat... OMIM:605289
Hunter-Macdonald Syndrome
Metatarsus adductus, 2-3 toe syndactyly, Bicuspid aortic valve, Mitral valve prolapse, Hypertensi... OMIM:611962
Syndactyly Type 2
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... ORPHA:93403
Congenital Absence Of Upper Arm And Forearm With Hand Present
Cleft palate, Polydactyly, Abnormal heart morphology, Abnormality of the neck, Stillbirth, Syndac... ORPHA:294975
Ectrodactyly-Polydactyly Syndrome
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Abnormality of the metacarp... ORPHA:1892
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Cutaneous finger syndactyly, Myelomeningocele, Split hand, Hydrocephalus, Spina bifida occulta, S... OMIM:183802
Mend Syndrome
2-3 toe syndactyly, Cleft palate, High palate, Long fingers, Abnormal heart morphology, Long neck... ORPHA:401973
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Synpolydactyly 1
4-5 toe syndactyly, 3-4 finger syndactyly, 2nd-5th toe middle phalangeal hypoplasia, Finger synda... OMIM:186000
Melnick-Needles Syndrome
Omphalocele, Tibial bowing, Short clavicles, Mitral valve prolapse, Talipes equinovarus, Hypoplas... OMIM:309350
Split-Hand/Foot Malformation 6
Toe syndactyly, Hand oligodactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot OMIM:225300
Triphalangeal Thumbs With Brachyectrodactyly
Triphalangeal thumb, Split hand, Short 3rd toe, Short 2nd finger, Brachydactyly, Split foot OMIM:190680
Aphalangy-Syndactyly-Microcephaly Syndrome
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Short distal phalanx of finger... ORPHA:1113
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Duplication of phalanx of hallux, Syndactyly, Postaxial foot polyd... OMIM:174500
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, 2-3 toe syndactyly, Cutaneous finger syndactyly, Cleft palate, Split hand, Split ... DECIPHER:46
Split-Foot Deformity With Mandibulofacial Dysostosis
Cleft palate, Toe syndactyly, Split foot, Split hand OMIM:183700
Camptodactyly Syndrome, Guadalajara, Type I
Toe syndactyly, Hallux valgus, Tubular metacarpal bones, High palate, Camptodactyly of 2nd-5th fi... OMIM:211910
Split-Hand/Foot Malformation 2
Split hand, Finger syndactyly, Short metacarpal, Short phalanx of finger, Split foot OMIM:313350
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse, Talipes equinovarus, Joint contracture of the hand, Spina bifida, Camptoda... OMIM:211960
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic right heart, Split foot OMIM:601348
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Hypoplastic iliac wing, Metaphyseal widening, Macroglossia, Hypoplastic acetabulae,... OMIM:253200
Holt-Oram Syndrome
Ventricular septal defect, Triphalangeal thumb, Phocomelia, Atrioventricular canal defect, Atriov... ORPHA:392
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Cleft palate, Anencephaly, Ectopic anus, Aplasia/Hypoplasia of the rad... ORPHA:2476
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E... ORPHA:1986
Faciodigitogenital Syndrome, Autosomal Recessive
Metatarsus adductus, Broad palm, High palate, Long neck, Down-sloping shoulders, Short foot, Synd... OMIM:227330
Mosaic Trisomy 20
Limited pronation/supination of forearm, Ventricular septal defect, Cleft palate, Dysplastic tric... ORPHA:1724
Ring Chromosome 4 Syndrome
Abnormality of the upper limb, Abnormality of the ulna, Split hand, Aplasia/Hypoplasia of the radius ORPHA:1447
Symphalangism With Multiple Anomalies Of Hands And Feet
Toe syndactyly, Reduced proximal interphalangeal joint space, Symphalangism of the 5th finger, Ab... ORPHA:3246
Ectrodactyly-Polydactyly
Split hand, Postaxial hand polydactyly, Split foot OMIM:225290
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Abnormality of femur morphology, Abnormality of the elbow, Aplasia/Hypop... ORPHA:2019
Acrorenal Syndrome
Abnormality of the ulna, Cleft palate, Aplasia/Hypoplasia of the radius, Split hand, Abnormality ... ORPHA:971
Tetramelic Monodactyly
Foot monodactyly, Hand monodactyly, Split foot, Split hand OMIM:187510
Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive
Split hand, Split foot, Tapered finger OMIM:220600
Cooks Syndrome
Broad thumb, Triphalangeal thumb, Brachydactyly, Split hand ORPHA:1487
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Syndactyly, Camptodactyly, Joint contracture of the hand, Split hand OMIM:225280
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Talipes equinovarus, Split hand, Oligodactyly, Ectrodactyly, Brachydactyly OMIM:612576
Focal Dermal Hypoplasia
Omphalocele, Duodenal atresia, Patent ductus arteriosus, Finger syndactyly, Iris coloboma, Campto... ORPHA:2092
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele, Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndac... ORPHA:3329
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Cervical cord compression, Intestinal pseudo-obstruction, Macroglossia, Inguinal he... OMIM:309900
Charlie M Syndrome
Triphalangeal thumb, Finger syndactyly, Abnormality of the metacarpal bones, Split hand, Brachyda... ORPHA:1406
Occipital Horn Syndrome
Short clavicles, High palate, Capitate-hamate fusion, Orthostatic hypotension, Genu valgum, Long ... OMIM:304150
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Hand monodactyly, Split foot, Split hand OMIM:183800
Postaxial Tetramelic Oligodactyly
Oligodactyly, Ectrodactyly, Abnormality of the metacarpal bones, Abnormality of finger ORPHA:2730
Ectrodactyly And Ectodermal Dysplasia Without Cleft Lip/Palate
Split foot, Split hand OMIM:129810
Fibular Aplasia-Ectrodactyly Syndrome
Abnormality of the ulna, Aplasia/Hypoplasia of the fibula, Split hand ORPHA:1118
Split-Hand And Split-Foot With Hypodontia
Split hand, Split foot OMIM:183500
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
High palate, Large hands, Arachnodactyly, Long neck, Hydrocephalus OMIM:617011
Moebius Syndrome
Dysphagia, High palate, Talipes equinovarus, Hand clenching, Lower limb undergrowth, Bifid uvula,... OMIM:157900
Mmep Syndrome
Ventricular septal defect, Triphalangeal thumb, Split foot ORPHA:3434
Acalvaria
Omphalocele, Cleft palate, Holoprosencephaly, Spina bifida, Hydrocephalus, Postaxial hand polydac... ORPHA:945
Charcot-Marie-Tooth Disease, Axonal, Type 2E
High palate, Hammertoe, Split hand, Hypotrophy of the small hand muscles, Ulnar claw OMIM:607684
2Q31.1 Microdeletion Syndrome
Broad hallux phalanx, Abnormality of the ulna, Cleft palate, Finger syndactyly, Iris coloboma, Ca... ORPHA:251014
Silver-Russell Syndrome Due To A Point Mutation
Cleft palate, Polydactyly, Short 5th finger, Small placenta, Syndactyly, Clinodactyly of the 5th ... ORPHA:397590
Otofaciocervical Syndrome 1
Scapular winging, Down-sloping shoulders, Long neck OMIM:166780
Autosomal Recessive Faciodigitogenital Syndrome
High palate, Finger syndactyly, Long neck, Down-sloping shoulders, Short foot, Clinodactyly of th... ORPHA:1974
Hirsutism, Skeletal Dysplasia, And Mental Retardation
Coxa valga, Down-sloping shoulders, Long neck OMIM:142625
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Arrhinencephaly, Truncus arteriosus, Phocomelia, Aplastic clavicle, Abnormality of ... ORPHA:2538
Anonychia-Ectrodactyly
Aplasia of metacarpal bones, Split hand OMIM:106900
Phocomelia, Schinzel Type
Fibular aplasia, Meningocele, High, narrow palate, Radial bowing, Hand oligodactyly, Cleft palate... ORPHA:2879
Mucolipidosis Ii Alpha/Beta
Talipes equinovarus, Splenomegaly, Short long bone, Flat acetabular roof, Umbilical hernia, Carpa... OMIM:252500
Ectrodactyly-Cleft Palate Syndrome
Cleft palate, Split hand OMIM:129830
Acropectorovertebral Dysplasia
Tarsal synostosis, High, narrow palate, Cleft palate, Triphalangeal thumb, Synostosis of carpal b... ORPHA:957
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
Split hand, Hammertoe OMIM:605726
Trisomy 13
High, narrow palate, Ventricular septal defect, Cleft palate, Cystic hygroma, Patent ductus arter... ORPHA:3378
Craniosynostosis, Herrmann-Opitz Type
Cleft palate, Webbed neck, Split hand, Finger syndactyly, Micromelia, Brachydactyly ORPHA:2145
Adams-Oliver Syndrome
Portal hypertension, Esophageal varix, Abnormality of the upper limb, Pulmonary arterial hyperten... ORPHA:974
Finnish Upper Limb-Onset Distal Myopathy
Joint contracture of the hand, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand musc... ORPHA:399086
Syndactyly, Type Iv
1-5 finger syndactyly, 2-3 toe syndactyly, Triphalangeal thumb, Polydactyly, Postaxial polydactyl... OMIM:186200
Tibial Hemimelia
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Cleft palate, Radial cl... ORPHA:93322
Opitz-Kaveggia Syndrome
Pyloric stenosis, Cleft palate, Joint contracture of the hand, Syndactyly, Hydrocephalus, Broad h... OMIM:305450
Hartsfield Syndrome
Aplasia/Hypoplasia of the radius, Cleft palate, Lobar holoprosencephaly, Split hand ORPHA:2117
Autosomal Dominant Spastic Paraplegia Type 17
Hand muscle weakness, Hand muscle atrophy, Split hand ORPHA:100998
Acrocephalopolysyndactyly Type Iv
Ulnar deviation of the hand or of fingers of the hand, Joint contracture of the hand, Radial devi... OMIM:201020
Charcot-Marie-Tooth Disease And Deafness
Split hand, Hammertoe OMIM:118300
Limb Defects, Distal Transverse, With Mental Retardation And Spasticity
Split hand OMIM:246555
Fatco Syndrome
Tarsal synostosis, Finger syndactyly, Absent hand, Split hand, Abnormality of fibula morphology, ... ORPHA:2492
Thanatophoric Dysplasia Type 1
Short greater sciatic notch, Abnormal sacroiliac joint morphology, Bowing of the long bones, Abno... ORPHA:1860
Eem Syndrome
Ectrodactyly, Finger syndactyly ORPHA:1897
Charcot-Marie-Tooth Disease, Type 4B2
Ulnar claw, Split hand, Talipes equinovarus, Hammertoe OMIM:604563
Ulnar Hypoplasia-Split Foot Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Split hand, Split foot ORPHA:1122
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Ulnar claw, Split hand OMIM:606595
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Distal upper limb amyotrophy, Split hand, Hammertoe OMIM:614455
Acropectorovertebral Dysplasia
Toe syndactyly, Capitate-hamate fusion, Bifid distal phalanx of the thumb, Spina bifida occulta a... OMIM:102510
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Cleft palate, Ectopic anus, Webbed neck, Anal atresia, Spina bifida, L... ORPHA:2345
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Abnormality of the elbow, Split hand, Abnormality of the wrist, Postaxial hand polydactyly, Short... ORPHA:2491
Ulnar Hemimelia
Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu... ORPHA:93320
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Ulnar claw, Split hand, Hammertoe OMIM:118220
Charcot-Marie-Tooth Disease Type 4D
Distal upper limb muscle weakness, Split hand, Upper limb amyotrophy, Hammertoe ORPHA:99950
Jackson-Weiss Syndrome
Broad metatarsal, Toe syndactyly, Broad hallux phalanx, 2-3 toe syndactyly, Short metatarsal, Sym... ORPHA:1540
Nevus Comedonicus Syndrome
Toe syndactyly, Preaxial polydactyly, Finger syndactyly, Spina bifida, Spina bifida occulta ORPHA:64754
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Talipes equinovarus, Split hand OMIM:607831
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, High palate, Arachnodactyly, Long neck ORPHA:457359
Hypertrophic Neuropathy Of Dejerine-Sottas
Ulnar claw, Split hand, Hammertoe OMIM:145900
Myopathy, Distal, 3
Joint contracture of the hand, Split hand OMIM:610099
Anonychia-Onychodystrophy With Brachydactyly Type B And Ectrodactyly
Short metatarsal, Aplasia/Hypoplasia of the distal phalanges of the hand, Type B brachydactyly, S... OMIM:106990
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Split-Hand/Foot Malformation 3
High palate, Cleft palate, Camptodactyly, Split hand OMIM:246560
Congenital Arthrogryposis With Anterior Horn Cell Disease
High palate, Rocker bottom foot, Talipes equinovarus, Hand clenching, Neonatal death, Hip dysplas... OMIM:611890
Limb Body Wall Complex
Cutaneous finger syndactyly, Abnormal intestine morphology, Ectopia cordis, Cleft palate, Lens su... ORPHA:2369
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Ethanolaminosis
Cardiomegaly OMIM:227150
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Absent tibia, Talipes equinovarus, Torticollis, Short metatarsal, Proximal placement of thumb, Hy... OMIM:609945
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Split hand OMIM:607706
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Hypoplasia of the ulna, Syndactyly, Split foot, Short finger OMIM:314360
Limb-Mammary Syndrome
Hallux valgus, Cleft palate, Joint contracture of the hand, Bifid uvula, Split hand, Syndactyly, ... OMIM:603543
Acrocardiofacial Syndrome
Hallux valgus, Toe syndactyly, Ventricular septal defect, Truncus arteriosus, Cleft palate, Mitra... ORPHA:2008
Charcot-Marie-Tooth Disease, Dominant Intermediate G
Split hand OMIM:617882
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Triphalangeal thumb, Abnormal aortic valve morphology, Atrioventricular ca... ORPHA:1120
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Split hand OMIM:610127
Alopecia-Intellectual Disability Syndrome
Brachydactyly, Split hand ORPHA:2850
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Split hand OMIM:616688
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Polydactyly, Brachydactyly OMIM:617405
Brown-Vialetto-Van Laere Syndrome 2
Dysphagia, Split hand OMIM:614707
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Ulnar claw, Split hand, Hammertoe OMIM:118200
Congenital Radioulnar Synostosis
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... ORPHA:3269
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Hand muscle weakness, Talipes equinovarus, Split hand, Intrinsic hand muscle atrophy, Proximal mu... ORPHA:101097
Coloboma Of Macula With Type B Brachydactyly
Bifid distal phalanx of the thumb, Coloboma, Absent distal phalanges, Broad distal phalanx of the... OMIM:120400
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Radial club hand, Aplasia/Hypoplasia of the thumb, Ulnar bowing, Asymmetric radial dysplasia, Abn... ORPHA:2878
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Phocomelia, Aplasia/Hypoplasia of the thumb, Short 2nd metacarpal, Mesomelic arm shor... OMIM:171480
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Cleft palate, Clinodactyly, Ectrodactyly, Iris coloboma OMIM:147950
Aplasia Cutis Congenita
Toe syndactyly, Spinal dysraphism, Finger syndactyly ORPHA:1114
Dermatoosteolysis, Kirghizian Type
Joint contracture of the hand, Split hand OMIM:221810
Tetramelic Monodactyly
Oligodactyly, Split hand ORPHA:2564
Pentalogy Of Cantrell
Omphalocele, Ventricular septal defect, Cleft palate, Anencephaly, Aplasia/Hypoplasia of the radi... ORPHA:1335
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Toe syndactyly, Broad thumb, Finger syndactyly, Hydrocephalus, Postaxial fo... ORPHA:380
Mucopolysaccharidosis Type 1
Hypertrophic cardiomyopathy, Abnormality of epiphysis morphology, Abnormal aortic valve morpholog... ORPHA:579
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Transient ischemic attack, Anomalous pu... ORPHA:1330
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Isomerism, Proximal placement of thumb, Absent radius, Anal atresi... OMIM:314390
Isolated Split Hand-Split Foot Malformation
Aniridia, Split hand, Absent hand, Finger syndactyly, Oligodactyly ORPHA:2440
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Irregular epiphyses, Small epiphyses, Delayed phalangeal epiphyseal ossification, Flat capital fe... OMIM:603546
Cantu Syndrome
Bicuspid aortic valve, Pericardial effusion, Metaphyseal widening, Broad first metatarsal, Cardio... OMIM:239850
Poland Syndrome
Dextrocardia, Abnormality of the ulna, Cone-shaped epiphysis, Aplasia/Hypoplasia of the thumb, Ap... ORPHA:2911
Congenital Neuronal Ceroid Lipofuscinosis
Split hand ORPHA:168486
Autosomal Recessive Robinow Syndrome
Broad hallux phalanx, Finger syndactyly, Camptodactyly of finger, Umbilical hernia, Toe syndactyl... ORPHA:1507
Focal Dermal Hypoplasia
Omphalocele, Cleft palate, Short metatarsal, Midclavicular hypoplasia, Iris coloboma, Foot polyda... OMIM:305600
Pelvis-Shoulder Dysplasia
Hydranencephaly, Cleft palate, Talipes equinovarus, Absent proximal finger flexion creases, Promi... ORPHA:2839
Wahab Syndrome
Adducted thumb, Short foot, Syndactyly, Short thumb, Short metacarpal, Short palm, Camptodactyly,... OMIM:615170
Infantile Sialic Acid Storage Disease
Hepatomegaly, High palate, Metaphyseal irregularity, Cardiomegaly, Splenomegaly, Hydrocephalus, C... OMIM:269920
Absent Radius-Anogenital Anomalies Syndrome
Perineal fistula, Rectovaginal fistula, Hypoplasia of the radius, Anal atresia, Rectal atresia, H... ORPHA:3016
Schisis Association
Omphalocele, Cleft palate, Anencephaly, Anal atresia, Spina bifida, Tracheoesophageal fistula, Mi... ORPHA:63862
Carpenter Syndrome
Toe syndactyly, Polydactyly, Talipes equinovarus, Patent ductus arteriosus, Finger syndactyly, Ge... ORPHA:65759
Charcot-Marie-Tooth Disease, Type 4A
Ulnar claw, Split hand, Hammertoe OMIM:214400
Renpenning Syndrome
High, narrow palate, Cleft palate, Heterotaxy, Iris coloboma, Anal atresia, Abnormal thumb morpho... ORPHA:3242
Multicentric Osteolysis, Nodulosis, And Arthropathy
Broad metatarsal, Interphalangeal joint contracture of finger, Widened metacarpal shaft, Metatars... OMIM:259600
Acro-Renal-Mandibular Syndrome
High palate, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue, Hypoplasia of the radius, Fi... ORPHA:958
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/Hypoplasia of the phalanges of the toes, Occipital meningocele, Phocomelia, Aplastic pubi... OMIM:276820
Neuronopathy, Distal Hereditary Motor, Type Viib
Abnormal lower motor neuron morphology, Hand muscle weakness, Hand muscle atrophy OMIM:607641
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Camptodactyly Syndrome, Guadalajara Type 1
Toe syndactyly, Hallux valgus, High palate, Cubitus valgus, Spina bifida, Short distal phalanx of... ORPHA:1327
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Hand monodactyly, Absent tibia, Patellar aplasia, Split hand, Split foot, Aplasia/Hypoplasia of t... OMIM:119100
Smith-Lemli-Opitz Syndrome
Pyloric stenosis, 2-3 toe syndactyly, Cleft palate, Aplasia/Hypoplasia of the radius, Gastroschis... ORPHA:818
Bardet-Biedl Syndrome 12
Polydactyly OMIM:615989
Bardet-Biedl Syndrome 6
Syndactyly, Polydactyly OMIM:605231
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Syndactyly, Clinodactyly, Brac... OMIM:610140
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Short 3rd metacarpal, Short 5th metacarpal, Tapered finger, Short 4th toe, Split hand, Intrinsic ... OMIM:618569
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Abnormal anterior horn cell morphology OMIM:183020
Santos Syndrome
Metatarsus adductus, Polydactyly, Talipes equinovarus, Postaxial polydactyly, Genu valgum, Preaxi... OMIM:613005
Mend Syndrome
2-3 toe syndactyly, High palate, Polydactyly, Long fingers, Overlapping fingers, Hydrocephalus, A... OMIM:300960
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Ventricular septal defect, Cleft palate, Anencephaly, Aplasia/Hypoplasia of the thum... ORPHA:1908
Blepharocheilodontic Syndrome 1
Cutaneous syndactyly, Clinodactyly, Neural tube defect, Anal atresia OMIM:119580
Thalidomide Embryopathy
Aplasia/hypoplasia of the humerus, Triphalangeal thumb, Radial club hand, Aplasia/Hypoplasia of t... ORPHA:3312
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Abnormality of the ulna, Cleft palate, High palate, Aplasia/Hypoplasia of the ... ORPHA:1307
Aminopterin Syndrome Sine Aminopterin
Cleft palate, High palate, Umbilical hernia, Joint contracture of the hand, Arachnodactyly, Ingui... OMIM:600325
Timothy Syndrome
Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Bradycardia, Patent ductus arteri... OMIM:601005
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Talipes equinovarus, Split hand OMIM:604168
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Cleft palate, Double outlet right ventricle, Pulmonic stenosis, Anal a... OMIM:220210
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of fingers, Cleft palate, High palate, Gastroschisis, Adactyly, Aplasia/Hypopl... ORPHA:989
Triploidy
Meningocele, Omphalocele, Hepatomegaly, Cleft palate, Holoprosencephaly, Macroglossia, Intestinal... ORPHA:3376
Abruzzo-Erickson Syndrome
Toe syndactyly, Cleft palate, Chorioretinal coloboma, Ulnar deviation of finger, Iris coloboma, A... ORPHA:921
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Weakness of the intrinsic hand muscles, Short third metatarsal, Split hand, Intrinsic hand muscle... ORPHA:324442
Caudal Duplication
Omphalocele, Myelomeningocele, Spinal cord lesion, Spina bifida, Intestinal duplication ORPHA:1756
Anophthalmia Plus Syndrome
Bilateral cleft lip and palate, Cleft palate, Iris coloboma, Deviation of finger, Spina bifida ORPHA:1104
Primary Lateral Sclerosis, Adult, 1
Dysphagia, Abnormal upper motor neuron morphology OMIM:611637
Polydactyly, Preaxial Iv
3-4 finger syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, Dy... OMIM:174700
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Broad thumb OMIM:174200
Sirenomelia
Sirenomelia, Aplasia/Hypoplasia of the radius, Anal atresia, Spina bifida, Tracheoesophageal fistula ORPHA:3169
Hypertrichotic Osteochondrodysplasia, Cantu Type
Hypertrophic cardiomyopathy, Broad hallux phalanx, Low posterior hairline, Cardiomegaly, Abnormal... ORPHA:1517
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Craniorachischisis
Omphalocele, Sirenomelia, Myelomeningocele, Anencephaly, Bifid sternum, Anal atresia, Cervical sp... ORPHA:63260
Alg3-Cdg
High palate, Neural tube defect, Macroglossia, Abnormality of limb bone morphology, Cardiomyopath... ORPHA:79321
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Aortic regurgitation, Spl... OMIM:252600
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Hallux valgus, Adducted thumb, Postaxial polydactyly, Short thumb, Overlapping fingers, Short dis... OMIM:618167
Wolf-Hirschhorn Syndrome
Abdominal situs inversus, Cleft palate, Talipes equinovarus, Low posterior hairline, Arachnodacty... ORPHA:280
Biemond Syndrome Type 2
Coloboma, Hydrocephalus, Preaxial polydactyly ORPHA:141333
Fixed Subaortic Stenosis
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Ventricular septal defect, Mitral regur... ORPHA:3092
Acrorenal Syndrome, Autosomal Recessive
Radial deviation of finger, Split foot, Clinodactyly, Split hand OMIM:201310
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Palmoplantar keratoderma, Syndactyly OMIM:613576
Orofaciodigital Syndrome Xvii
High, narrow palate, Polydactyly, Tetralogy of Fallot, Partial duplication of thumb phalanx, Cent... OMIM:617926
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Clinodactyly, Polydactyly, Postaxial polydactyly OMIM:615984
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Redundant neck skin, Cardiomegaly, Patent ductus arteriosus, Tricuspid... OMIM:618652
Microphthalmia, Syndromic 8
Cleft palate, Split foot OMIM:601349
Coronary Arterial Fistula
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Abnormal EKG, Abnormal left ventricular... ORPHA:2041
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Foot polydactyly, Split hand, Duodenal atresia, Phocomelia ORPHA:3004
Mosaic Trisomy 9
Cleft palate, Talipes equinovarus, Patent ductus arteriosus, Camptodactyly of finger, Finger clin... ORPHA:99776
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Abnormal lower motor neuron morphology, Joint contracture of the hand, Talipes equinovarus OMIM:611067
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Toe syndactyly, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Metacarpal synostosis, Symp... ORPHA:157801
Juvenile Primary Lateral Sclerosis
Dysphagia, Abnormal upper motor neuron morphology ORPHA:247604
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Metaphyseal cupping, Pulmonary arterial hypertension, Cardiomegaly, Iliac crest ser... OMIM:613320
15Q24 Microdeletion Syndrome
Myelomeningocele, Abnormal heart morphology, Small hand, Abnormality of toe, Proximal placement o... ORPHA:94065
Iniencephaly
Omphalocele, Anencephaly, Rocker bottom foot, Talipes equinovarus, Holoprosencephaly, Myelomening... ORPHA:63259
Isolated Right Ventricular Hypoplasia
Right ventricular failure, Systolic heart murmur, Right bundle branch block, Cardiomegaly, Clubbi... ORPHA:439
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Hydrocephalus, Congestive heart failure OMIM:300886
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Ventricular septal defect, Abnormal QRS complex, Abnormality of blood circulation, ... ORPHA:860
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Syndactyly, Hydrocephalus, Polydactyly OMIM:602501
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Iris coloboma, Syndactyly, Coloboma, Clinodactyly, Brachydactyly OMIM:610023
Trisomy 18
Omphalocele, Ventricular septal defect, Cleft palate, Anencephaly, Abnormality of the upper limb,... ORPHA:3380
Meckel Syndrome, Type 2
Meningocele, Cleft palate, Anencephaly, Polydactyly, Bowing of the long bones, Postaxial hand pol... OMIM:603194
Mulibrey Nanism
Hepatomegaly, Pericardial constriction, Thickened cortex of long bones, Microglossia, Cardiomegal... OMIM:253250
Wolf-Hirschhorn Syndrome
Cleft palate, Talipes equinovarus, Iris coloboma, Hydrocephalus, Low posterior hairline, Radiouln... OMIM:194190
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
High palate, Cardiomegaly, Congestive heart failure OMIM:618654
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hallux valgus, Bicuspid aortic valve, Cleft palate, Talipes equinovarus, Spatulate thumbs, Broad ... OMIM:245600
Lethal Congenital Contracture Syndrome 10
Omphalocele, Ventricular septal defect, Stiff neck, High palate, Adducted thumb, Talipes equinova... OMIM:617022
Orofaciodigital Syndrome Vi
Toe syndactyly, Cleft palate, High palate, Postaxial polydactyly, Tongue nodules, Radial deviatio... OMIM:277170
Microphthalmia, Isolated 4
Coloboma, Postaxial polydactyly OMIM:613094
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Talipes equinovarus, Phocomelia, Bilateral radial aplasia, Finger syndactyly, Hepatos... OMIM:274000
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft lip and palate, Omphalocele, Ventricular septal defect, Foot oligodactyly, Holopr... OMIM:601357
Adams-Oliver Syndrome 5
Esophageal varix, Right ventricular hypertrophy, Pulmonary arterial hypertension, Inguinal hernia... OMIM:616028
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Fountain Syndrome
Metaphyseal dysplasia, Large hands, Coarse metaphyseal trabecularization, Brachydactyly, Spina bi... ORPHA:3219
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Patent ductus arteriosus, Protruding tongue, Broad neck, Syndactyly, A... OMIM:300963
Hypomelia With Mullerian Duct Anomalies
Postaxial hand polydactyly, Split hand OMIM:146160
Amyotrophic Lateral Sclerosis 4, Juvenile
Pallor of dorsal columns of the spinal cord, Amyotrophic lateral sclerosis, Abnormal lower motor ... OMIM:602433
Double Outlet Right Ventricle
Ventricular septal defect, Cleft palate, Truncus arteriosus, Double outlet right ventricle, Heter... ORPHA:3426
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Foot monodactyly, Bifid femur, Hand monodactyly, Absent tibia, Aplasia of the ulna, Split hand OMIM:228250
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ... OMIM:113310
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Broad hallux phalanx, Broad thumb, Finger syndactyly, Exencephaly, Preaxial hand polydactyly ORPHA:2211
Acrorenal-Mandibular Syndrome
Toe syndactyly, High palate, Hypoplastic scapulae, Hypoplasia of the radius, Split hand, Foot pol... OMIM:200980
Ciliary Dyskinesia, Primary, 14
Situs inversus totalis, Heterotaxy, Absent inner dynein arms, Abnormal axonemal organization of r... OMIM:613807
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Syndactyly, Camptodactyly, Oligodactyly, Short digit, Short phalanx of finger,... OMIM:610713
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Low posterior hairline, Short neck, Chorioretinal coloboma, Cervical spina bifida OMIM:600122
Orofaciodigital Syndrome Xviii
Short middle phalanx of finger, Postaxial polydactyly, Preaxial polydactyly, Genu valgum, Sandal ... OMIM:617927
Jacobsen Syndrome
Pyloric stenosis, Broad hallux phalanx, Duodenal atresia, Finger syndactyly, Iris coloboma, Toe c... ORPHA:2308
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... OMIM:228930
Craniofaciofrontodigital Syndrome
Pyloric stenosis, Bicuspid aortic valve, Ventricular septal defect, Palmoplantar cutis laxa, Peri... ORPHA:363705
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Cleft palate, Adducted thumb, Decreased f... OMIM:616897
Chiari Malformation Type Ii
Dysphagia, Myelomeningocele, Syringomyelia, Cervical myelopathy, Spina bifida, Hydrocephalus OMIM:207950
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Eec Syndrome
Toe syndactyly, Cleft palate, Aplasia/Hypoplasia of the thumb, Xerostomia, Proximal placement of ... ORPHA:1896
Bardet-Biedl Syndrome 17
Dextrocardia, Polydactyly, Situs inversus totalis, Mesoaxial polydactyly, Postaxial foot polydact... OMIM:615994
Duane-Radial Ray Syndrome
Triphalangeal thumb, Retinal coloboma, Hypoplasia of the radius, Iris coloboma, Syndactyly, Short... OMIM:607323
Bardet-Biedl Syndrome 8
Situs inversus totalis, Polydactyly OMIM:615985
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, 2-3 toe syndactyly, Truncus arteriosus, Retinal coloboma, Iris coloboma, B... ORPHA:508498
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Cleft palate, Syndactyly, Abnormal pelvis bone morphology, Short long ... ORPHA:1505
Brachydactyly, Type B1
Cutaneous finger syndactyly, Ventricular septal defect, Short middle phalanx of finger, Joint con... OMIM:113000
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Reduced ejection fraction, Angina pectoris, Res... ORPHA:85451
Amyotrophic Lateral Sclerosis 2, Juvenile
Dysphagia, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Hand muscle atr... OMIM:205100
Laurin-Sandrow Syndrome
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Aplasia/Hypoplasia of the t... ORPHA:2378
Meckel Syndrome, Type 8
Cleft palate, Polydactyly, Talipes equinovarus, Postaxial hand polydactyly, Short neck OMIM:613885
Otopalatodigital Syndrome Type 2
Fibular aplasia, Tarsal synostosis, Omphalocele, Cleft palate, Myelomeningocele, Bowing of the lo... ORPHA:90652
Hydrolethalus Syndrome 2
Cleft palate, Anencephaly, Postaxial polydactyly, Preaxial polydactyly, Hydrocephalus OMIM:614120
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly, Hydrocephalus ORPHA:858
Pelger-Huet Anomaly
Upper limb undergrowth, Short 3rd metacarpal, Short 5th metacarpal, Polydactyly, Ventricular sept... OMIM:169400
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal motor neuron morphology, Amyotrophic lateral sclerosis, Abnormality of long bone morphol... ORPHA:52430
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mitral valve prolapse, Mitral regurgitation, Cardiomegaly, Tricuspid regurgitation, Abnormal thum... ORPHA:324410
Ivic Syndrome
Upper limb undergrowth, Triphalangeal thumb, Hypoplasia of the radius, Patent ductus arteriosus, ... OMIM:147750
Bardet-Biedl Syndrome 4
Syndactyly, Polydactyly, Brachydactyly OMIM:615982
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Macroglossia, Cardiomegaly, Inguinal hernia, Cystic hygroma, Short distal phalanx o... OMIM:618143
Cerebrocostomandibular Syndrome
Meningocele, Ventricular septal defect, Hydranencephaly, Cleft palate, Myelomeningocele, Webbed n... ORPHA:1393
Greenberg Dysplasia
Omphalocele, Abnormal intestine morphology, Epiphyseal stippling, Neonatal death, Hepatosplenomeg... OMIM:215140
Congenital Sialidosis Type 2
Hepatomegaly, Telangiectasia, Polydactyly, Abnormal heart morphology, Inguinal hernia, Hepatosple... ORPHA:93400
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Cleft palate, 3-4 finger syndactyly, Cardiomegaly, Cardiomyopathy, 4-5 finger ... ORPHA:158687
Orofaciodigital Syndrome Viii
Cleft palate, High palate, Polydactyly, Syndactyly, Short tibia OMIM:300484
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Basal Cell Nevus Syndrome
Cardiac rhabdomyoma, Irregular ossification of hand bones, Cleft palate, Polydactyly, Palmar pits... OMIM:109400
Acrocallosal Syndrome
Cleft palate, Finger syndactyly, Coloboma, Umbilical hernia, Toe syndactyly, High palate, Anal at... OMIM:200990
Short-Rib Thoracic Dysplasia 18 With Polydactyly
2-3 toe syndactyly, Radial bowing, Postaxial polydactyly, Ulnar bowing, Cystic hygroma, Intestina... OMIM:617866
Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Abnormal upper motor neuro... OMIM:614373
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Syncope, Pericardial effusion, Ventricular hypertrophy... OMIM:115197
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Macrodactyly, Splenomegaly, Sandal gap, Tethered cord, Spinal dysraphism OMIM:612918
Orofaciodigital Syndrome Xi
Cleft palate, Gastroesophageal reflux, Postaxial polydactyly OMIM:612913
Complete Atrioventricular Septal Defect
Right ventricular failure, Left-to-right shunt, Third heart sound, Abnormal EKG, Abnormal P wave,... ORPHA:1329
Trisomy 20P
Ectopic anus, Low posterior hairline, Inguinal hernia, Finger syndactyly, Spina bifida, Camptodac... ORPHA:261318
Cloacal Exstrophy
Omphalocele, Myelomeningocele, Talipes equinovarus, Absent foot, Intestinal malrotation, Anal atr... ORPHA:93929
Mohr Syndrome
Cleft palate, High palate, Tongue nodules, Bilateral postaxial polydactyly, Metaphyseal irregular... OMIM:252100
Grange Syndrome
Hypertension, Ventricular septal defect, Aortic regurgitation, Patent ductus arteriosus, Syndacty... ORPHA:79094
Orofaciodigital Syndrome Type 10
Fibular aplasia, Tarsal synostosis, Mesomelic leg shortening, Polysyndactyly of hallux, Metatarsa... ORPHA:2756
Suleiman-El-Hattab Syndrome
Ventricular septal defect, High palate, Polydactyly, Webbed neck, Atrial septal defect, Patent fo... OMIM:618950
Acropectoral Syndrome
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly OMIM:605967
Neu-Laxova Syndrome 1
Cleft palate, Joint contracture of the hand, Small placenta, Finger syndactyly, Patent ductus art... OMIM:256520
3P25.3 Microdeletion Syndrome
Pyloric stenosis, High, narrow palate, Ventricular septal defect, Cleft palate, Postaxial polydac... ORPHA:435638
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Abnormal motor neuron morphology, Azoospermia OMIM:613724
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Toe syndactyly, Aplasia/Hypoplasia of the phalanges of the toes, Aplasia/Hypoplasia of the phalan... ORPHA:1112
Adams-Oliver Syndrome 6
Ventricular septal defect, Truncus arteriosus, Esophageal varix, Tricuspid regurgitation, Syndact... OMIM:616589
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, High palate, Postaxial polydactyly, Patent ductus arteriosus, Preaxial... OMIM:618142
Autosomal Dominant Popliteal Pterygium Syndrome
Cleft palate, Toe syndactyly, Split hand, Finger syndactyly ORPHA:1300
Nail-Patella Syndrome
Cleft palate, Patellar aplasia, Hypoplastic radial head, Talipes equinovarus, Iliac horns, Tricep... OMIM:161200
Curry-Jones Syndrome
Cutaneous finger syndactyly, Coloboma, Broad thumb, Intestinal malrotation, Anal stenosis, Syndac... OMIM:601707
Amish Lethal Microcephaly
Cleft soft palate, Hepatomegaly, Spina bifida ORPHA:99742
Holt-Oram Syndrome
Triphalangeal thumb, Phocomelia, Hypoplasia of the radius, Patent ductus arteriosus, Syndactyly, ... OMIM:142900
Hartsfield Syndrome
Cleft palate, Syndactyly, Ectrodactyly, Lobar holoprosencephaly OMIM:615465
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Postaxial polydactyly, Short metatarsal, Limb undergrowth, Sandal gap, Short metacarpal, Short di... OMIM:617102
Familial Atrial Myxoma
Bacterial endocarditis, Cardiac myxoma, Cardiomegaly, Tricuspid regurgitation, Congestive heart f... ORPHA:615
Endocrine-Cerebroosteodysplasia
Cleft palate, Polydactyly, Ulnar deviation of the hand, Ulnar deviation of the hand or of fingers... OMIM:612651
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Cardiomyopathy OMIM:617713
Joubert Syndrome 18
Ventricular septal defect, Polydactyly, Camptodactyly OMIM:614815
Orofaciodigital Syndrome I
Hypertension, Cleft palate, High palate, Polydactyly, Myelomeningocele, Abnormal heart morphology... OMIM:311200
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Histiocytosis-Lymphadenopathy Plus Syndrome
Facial telangiectasia, Hallux valgus, Patent ductus arteriosus, Splenomegaly, Hepatosplenomegaly,... OMIM:602782
Hemochromatosis, Type 1
Hepatomegaly, Telangiectasia, Hepatocellular carcinoma, Azoospermia, Cardiomegaly, Cardiomyopathy... OMIM:235200
Fryns Microphthalmia Syndrome
Bilateral cleft lip and palate, Neural tube defect OMIM:600776
Orofaciodigital Syndrome Type 4
High, narrow palate, Perineal fistula, Genu varum, Cleft palate, Rectovaginal fistula, Bifid uvul... ORPHA:2753
Meckel Syndrome, Type 3
Hepatomegaly, Cleft palate, Polydactyly, Hydrocephalus, Postaxial foot polydactyly, Postaxial han... OMIM:607361
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Clinodactyly of the 5th finger, High palate, Polydactyly, Upper limb asymmetry ORPHA:231140
Yunis-Varon Syndrome
Pyloric stenosis, Arrhinencephaly, Short middle phalanx of finger, Redundant neck skin, Syndactyl... ORPHA:3472
D-Bifunctional Protein Deficiency
Hepatomegaly, High palate, Talipes equinovarus, Hammertoe, Split hand, Splenomegaly OMIM:261515
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Cleft palate, High palate, Polydactyly, Hypoplastic scapulae, Postaxial polydactyly, Bowing of th... OMIM:614091
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Cardiomegaly ORPHA:88643
9Q21.13 Microdeletion Syndrome
Polydactyly, Gastrointestinal dysmotility, Abnormal heart morphology, Syringomyelia, Hip dysplasi... ORPHA:531151
Neuraminidase Deficiency
Hepatomegaly, Epiphyseal stippling, Cardiomegaly, Cardiomyopathy, Splenomegaly, Inguinal hernia OMIM:256550
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Abnormality of the ulna, Cleft palate, Triphalangeal thumb, Duoden... ORPHA:84
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Toe syndactyly, Absence of Stensen duct, Cleft palate, Rectovaginal fistula, Xerostomia, Split ha... OMIM:129900
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Hypoplasia of right ventricle, Abnormal aortic valve morphology, Mitral atresia, Si... OMIM:616749
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy, Congestive heart failure, Short fourth metatarsal, Arrhythmia OMIM:266500
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hepatomegaly, High palate, Antenatal intracerebral hemorrhage, Tapered fi... OMIM:608836
Joubert Syndrome 23
Coloboma, Polydactyly OMIM:616490
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomegaly, Cardiomyopathy ORPHA:85447
Bardet-Biedl Syndrome 9
Polydactyly, Postaxial polydactyly, Syndactyly, Postaxial foot polydactyly, Postaxial hand polyda... OMIM:615986
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, High, narrow palate, Hypertension, Aortic regurgitation, Cardiomegaly, Ara... ORPHA:91387
Synpolydactyly 2
Tarsal synostosis, Toe syndactyly, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... OMIM:608180
Primary Lateral Sclerosis, Juvenile
Dysphagia, Abnormal upper motor neuron morphology OMIM:606353
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology, Dysphagia, Abnormal lower motor neuron morphology, Abnormal up... ORPHA:275872
Hamamy Syndrome
Dysphagia, High palate, Mitral regurgitation, Tapered finger, Long fingers, Webbed neck, Down-slo... OMIM:611174
Bardet-Biedl Syndrome 19
Polydactyly OMIM:615996
Retinitis Pigmentosa 89
Bicuspid aortic valve, Hepatosplenomegaly, Esophageal varix, Postaxial polydactyly OMIM:618955
Rhombencephalosynapsis
Aganglionic megacolon, Polydactyly, Esophageal atresia, Complete duplication of thumb phalanx, Fi... ORPHA:59315
Mullegama-Klein-Martinez Syndrome
Cleft palate, Polydactyly, Hypoplastic left heart, Abnormal cardiac septum morphology, Clinodacty... OMIM:301022
Joubert Syndrome 14
Coloboma, Hypertension, Hydrocephalus, Postaxial polydactyly OMIM:614424
Symptomatic Form Of Hemochromatosis Type 1
Hepatomegaly, Cholangiocarcinoma, Hepatocellular carcinoma, Elevated jugular venous pressure, Car... ORPHA:465508
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Cleft palate, Mitral stenosis, Bifid uvula, Atrial septal defect, Hypoplastic left heart, Tethere... OMIM:617660
Adult Syndrome
Toe syndactyly, Split foot, Split hand OMIM:103285
Orofaciodigital Syndrome Xv
Lobulated tongue, Broad hallux, Postaxial polydactyly OMIM:617127
Acro-Renal-Ocular Syndrome
Broad hallux phalanx, Triphalangeal thumb, Radial club hand, Aplasia/Hypoplasia of the radius, Ab... ORPHA:959
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Hepatomegaly, Endocardial fibroelastosis, Cardiomegaly, Congestive h... OMIM:212140
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Cleft palate, Patent ductus arteriosus, Clubbing, Split hand, Tetralog... OMIM:600460
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Ventricular septal defect, Postaxial polydactyly, Hypoplasia of the radius, Syndacty... OMIM:617895
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Global systolic dysfunction, Reduced ejection fraction, Ve... ORPHA:57777
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly OMIM:617119
Joubert Syndrome 16
Coloboma, Polydactyly OMIM:614465
Charcot-Marie-Tooth Disease Type 1E
Hand muscle weakness, Hammertoe, Joint contracture of the hand, Split hand, Hyporeflexia of upper... ORPHA:90658
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Ventricular septal defect, Inflammation of the large intestine, Esophageal varix, P... OMIM:614576
Hypoglossia-Hypodactylia
Adactyly, Microglossia, Aglossia, Split hand OMIM:103300
Meckel Syndrome, Type 1
Omphalocele, Cleft palate, Patent ductus arteriosus, Splenomegaly, Foot polydactyly, Iris colobom... OMIM:249000
Naxos Disease
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... OMIM:601214
Orofaciodigital Syndrome Iv
Toe syndactyly, Cleft palate, High palate, Hamartoma of tongue, Postaxial polydactyly, Short fing... OMIM:258860
Vater/Vacterl Association
Patent urachus, Ventricular septal defect, Triphalangeal thumb, Esophageal atresia, Hypoplasia of... OMIM:192350
Cardiomyopathy, Familial Hypertrophic 27
Prolonged QT interval, Tricuspid regurgitation, Cardiomegaly, Mitral regurgitation OMIM:618052
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
High palate, Cardiomegaly, Arachnodactyly, Increased arm span, Thin metatarsal cortices, Slender ... ORPHA:2463
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Absent tibia, Cleft palate, Cone-shaped epiphysis, Talipes equinovarus, Postaxial polydactyly, Me... OMIM:613091
Vacterl With Hydrocephalus
Arrhinencephaly, Esophageal atresia, Hypoplasia of the radius, Anal atresia, Hip dislocation, Spi... ORPHA:3412
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Mitral regurgitation, Postaxial polydactyly, Atrial septal defect, Hyd... OMIM:603387
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cleft palate, Anencephaly, Postaxial polydactyly, Retinal coloboma, Aplastic clavicle, Preaxial p... OMIM:616546
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Toe syndactyly, Absence of Stensen duct, Cleft palate, Xerostomia, Split hand, Ectrodactyly, Spli... OMIM:604292
Meckel Syndrome, Type 10
Cleft palate, Anencephaly, Postaxial polydactyly OMIM:614175
Acromelic Frontonasal Dysostosis
Cleft palate, Polydactyly, Talipes equinovarus, Preaxial polydactyly, Syndactyly OMIM:603671
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Polydactyly, Hypoplastic ischia OMIM:616910
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly OMIM:619064
Waardenburg Syndrome Type 1
Meningocele, Aganglionic megacolon, Spina bifida, Cleft palate ORPHA:894
Spastic Paraplegia 9A, Autosomal Dominant
Hiatus hernia, Abnormality of pelvic girdle bone morphology, Gastroesophageal reflux, Carpal bone... OMIM:601162
Nephronophthisis 15
Polydactyly OMIM:614845
Pfeiffer Syndrome
High palate, Elbow ankylosis, Finger syndactyly, Syndactyly, Hydrocephalus, Shortening of all mid... OMIM:101600
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Hepatomegaly, Syncope, Paroxysmal atrial fibrillation, Atr... ORPHA:1677
22Q11.2 Deletion Syndrome
Arrhinencephaly, Cleft palate, Truncus arteriosus, Talipes equinovarus, Patent ductus arteriosus,... ORPHA:567
Diets-Jongmans Syndrome
Ventricular septal defect, Duodenal atresia, Heterotaxy, Inguinal hernia, Hip dysplasia, Umbilica... OMIM:618846
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Cleft palate, High palate, Atrioventricular can... ORPHA:453499
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Pulmonary arterial hypertension, Cardiomega... OMIM:619051
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, 2-3 toe syndactyly, Cleft palate, Morphological abnormality of the gas... ORPHA:404440
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Abnormality of the hand OMIM:221770
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Omphalocele, Ventricular septal defect, Abdominal situs inversus, Mitral atresia, D... OMIM:306955
Tarp Syndrome
Cleft palate, High palate, Talipes equinovarus, Postaxial polydactyly, Tongue nodules, Hypoplasia... OMIM:311900
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Stillbirth, Duplication of phalanx of hallux, Syndactyly, Atrial septa... OMIM:263630
Pagod Syndrome
Meningocele, Omphalocele, Situs inversus totalis, Hypoplastic left heart, Spina bifida, Sudden ca... ORPHA:991
Robinow Syndrome, Autosomal Dominant 3
Omphalocele, Ventricular septal defect, Cleft palate, Anteriorly placed anus, Webbed neck, Patent... OMIM:616894
Pallister-Hall Syndrome
Toe syndactyly, Ventricular septal defect, Cleft palate, Mesoaxial hand polydactyly, Oligodactyly... OMIM:146510
Hallermann-Streiff Syndrome
High, narrow palate, Hypertension, High palate, Chorioretinal coloboma, Telangiectasia, Metaphyse... OMIM:234100
Alpha-N-Acetylgalactosaminidase Deficiency
Gastroesophageal reflux, Cardiomegaly ORPHA:3137
Joubert Syndrome 32
Hypertrophic cardiomyopathy, Postaxial polydactyly OMIM:617757
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Splenomegaly, Abnormal EKG, Abnormal P wave, Reduced ejection fraction, ... ORPHA:75565
Mucopolysaccharidosis Type 3
Hepatomegaly, Dysphagia, Reduced ejection fraction, Abnormal mitral valve morphology, Abnormal ao... ORPHA:581
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Retinal coloboma, Chorioretinal coloboma, Iris coloboma, Preaxial polydactyly ORPHA:2921
Posterior Meningocele
Meningocele, Occipital meningocele, Hydromyelia, Neural tube defect, Limitation of neck motion, H... ORPHA:268810
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Reduced ejection fraction, Cardiomegaly, Sudden cardia... OMIM:201475
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
High palate, Mitral valve prolapse, Cubitus valgus, Congenital hip dislocation, Patent ductus art... OMIM:104350
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Hypoplastic ilia, Lens subluxation, Bowing of the legs, Ivory epiphyses, Abnormality of epiphysis... ORPHA:85167
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, Double outlet ... OMIM:217095
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Dysphagia, Reduced ejection fraction, Right ventricular hypertrophy, Cardiomegaly, Proximal muscl... ORPHA:268
Adult Syndrome
Toe syndactyly, Split foot, Finger syndactyly ORPHA:978
20P13 Microdeletion Syndrome
Clinodactyly, Polydactyly, Brachydactyly, Finger syndactyly ORPHA:313781
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Omphalocele, Aganglionic megacolon, Oligodactyly, Camptodactyly of finger, Abnormal pelvis bone m... ORPHA:2273
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Dysphagia, Cardiomegaly, Gastrointestinal dysmotility ORPHA:391428
Mosaic Trisomy 16
Ventricular septal defect, Meckel diverticulum, Abnormal heart morphology, Short forearm, Patent ... ORPHA:1708
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Ventricular tachycardia OMIM:600649
Meckel Syndrome, Type 11
Polydactyly OMIM:615397
Laryngotracheoesophageal Cleft Type 4
Abnormal cardiac septum morphology, Intestinal atresia, Tracheoesophageal fistula, Abnormal lower... ORPHA:93941
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Abnormal heart morphology, Absent tibia, Polydactyly OMIM:188740
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Proximal femoral metaphyseal irregularity, Abnormal acetabulum morphology, Meningocele, Redundant... ORPHA:397715
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly, Arrhythmia ORPHA:42
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Diffuse alveolar hemorrhage, Heart murmur ORPHA:99931
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Tapered finger, Atrioventricular canal defect, Torticollis, Bifid uvula, Patent ductus arteriosus... OMIM:619480
Carpenter Syndrome 2
Dextrocardia, Cutaneous finger syndactyly, High palate, Talipes equinovarus, Aplasia of the middl... OMIM:614976
Cardioacrofacial Dysplasia 1
Complete atrioventricular canal defect, Postaxial polydactyly, Atrioventricular canal defect, Lim... OMIM:619142
Craniofaciofrontodigital Syndrome
Palmoplantar cutis laxa, Abnormal heart morphology, Cubitus valgus, Cardiomegaly, Short neck, Hyp... OMIM:114620
Danon Disease
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiomegaly, Myocardial necrosis, Wolff-Par... OMIM:300257
Bardet-Biedl Syndrome 3
Tricuspid regurgitation, Brachydactyly, Postaxial polydactyly OMIM:600151
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Pericardial effusion, Systolic heart murmur, Right ventricular hypertrophy, Cardiom... ORPHA:555874
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cleft palate, Atrial fibrillation, Ventricular tachycard... ORPHA:137675
Bardet-Biedl Syndrome 1
High, narrow palate, Hypertension, High palate, Aganglionic megacolon, Postaxial polydactyly, Foo... OMIM:209900
Meier-Gorlin Syndrome 7
Complete atrioventricular canal defect, 2-3 toe syndactyly, Aplasia/Hypoplasia of the patella, Ve... OMIM:617063
Lumbar Syndrome
Ectopic anus, Myelomeningocele, Anal atresia, Spina bifida, Bladder exstrophy ORPHA:83628
Laurin-Sandrow Syndrome
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Short fo... OMIM:135750
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly, Arrhythmia OMIM:255120
Amyotrophic Lateral Sclerosis 21
Dysphagia, Amyotrophic lateral sclerosis, Shoulder girdle muscle weakness, Abnormal lower motor n... OMIM:606070
Cranioectodermal Dysplasia 2
Hepatomegaly, Hypertension, Cleft palate, High palate, Polydactyly, Rhizomelia, Cystic hygroma, P... OMIM:613610
Joubert Syndrome 15
Polydactyly OMIM:614464
Okamoto Syndrome
Omphalocele, Ventricular septal defect, Primum atrial septal defect, Redundant neck skin, Polydac... ORPHA:2729
Beck-Fahrner Syndrome
High palate, Ventricular septal defect, Hip dysplasia, Cardiomegaly OMIM:618798
Orofaciodigital Syndrome Type 6
Cleft palate, High palate, Hamartoma of tongue, Abnormal heart morphology, Tongue nodules, Mesoax... ORPHA:2754
Adnp Syndrome
2-3 toe syndactyly, Polydactyly, Abnormality of toe, Inguinal hernia, Abnormality of finger, Sand... ORPHA:404448
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Hydrocepha... OMIM:231005
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dysphagia, Abnormal upper motor neuron morphology OMIM:607694
Biliary, Renal, Neurologic, And Skeletal Syndrome
Left-to-right shunt, Esophageal varix, Neonatal death, Patent ductus arteriosus, Splenomegaly, Sy... OMIM:619534
Miller-Dieker Lissencephaly Syndrome
Omphalocele, Cleft palate, Polydactyly, Duodenal atresia, Abnormal heart morphology, Joint contra... OMIM:247200
Pseudoaminopterin Syndrome
High palate, Postaxial polydactyly, Clinodactyly of the 5th toe, Synostosis of carpal bones, Slen... ORPHA:221120
Chondrodysplasia Punctata 2, X-Linked Dominant
Tarsal stippling, Polydactyly, Postaxial polydactyly, Epiphyseal stippling, Stippled calcificatio... OMIM:302960
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Complete atrioventricular canal defect, Cleft palate, Hamartoma of tongue, Postaxial polydactyly,... OMIM:617925
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly OMIM:252920
Amyloidosis, Hereditary, Transthyretin-Related
Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly, Cardiomyopathy OMIM:105210
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Cleft palate, Talipes equinovarus, Bicuspid pulmonary valve, Joint contrac... OMIM:610168
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Macroglossia, Cardiomegaly, Cardiomyopathy, Bradycardia, Congestive he... OMIM:261740
Familial Aortic Dissection
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly, Patent ductus arteriosus ORPHA:229
Schinzel-Giedion Syndrome
Dysphagia, Tibial bowing, Aganglionic megacolon, High palate, Neural tube defect, Macroglossia, A... ORPHA:798
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, High, narrow palate, Cardiomegaly, Cardiomyopathy, Heart block, Hydrocephalus, Abno... ORPHA:228308
Simpson-Golabi-Behmel Syndrome, Type 1
Short greater sciatic notch, Cleft palate, Talipes equinovarus, Broad toe, Patent ductus arterios... OMIM:312870
Mogs-Cdg
Hepatomegaly, High palate, Cardiomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Overla... ORPHA:79330
Williams Syndrome
Hallux valgus, Bicuspid aortic valve, Rectal prolapse, Abnormal gastric mucosa morphology, Abnorm... ORPHA:904
Neu-Laxova Syndrome
Cleft palate, Large hands, Bifid uvula, Spina bifida, Micromelia, Submucous cleft hard palate ORPHA:2671
Stromme Syndrome
Cleft palate, Duodenal atresia, Stillbirth, Jejunal atresia, Iris coloboma, Preaxial polydactyly,... OMIM:243605
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Cleft palate, High, narrow palate, Talipes equi... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Cleft palate, High, narrow palate, Talipes equi... ORPHA:352665
Aicardi Syndrome
Cleft palate, Proximal placement of thumb, Optic disc coloboma, Hepatoblastoma, Spina bifida, Hia... OMIM:304050
Congenital Total Pulmonary Venous Return Anomaly
Right ventricular failure, Mitral atresia, Low-output congestive heart failure, Single ventricle,... ORPHA:99125
Fucosidosis
Hepatomegaly, Macroglossia, Cardiomegaly, Splenomegaly, Coxa valga OMIM:230000
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Postaxial polydactyly, Preaxial polydactyly, Brachydactyly, Syndactyly... OMIM:615503
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Cleft palate, Aborted sudden car... OMIM:614921
Aorta Coarctation
Bicuspid aortic valve, Hypertension, Perimembranous ventricular septal defect, Cardiomegaly, Pulm... ORPHA:1457
Primary Lateral Sclerosis
Cervical spinal cord atrophy, Dysphagia, Abnormal upper motor neuron morphology, Atrophy of the s... ORPHA:35689
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Hepatomegaly, Macroglossia, Low-output congestive heart failure, Car... ORPHA:308552
Absence Of The Pulmonary Artery
Truncus arteriosus, Reduced ejection fraction, Systolic heart murmur, Atrial fibrillation, Abnorm... ORPHA:980
Polyglucosan Body Neuropathy, Adult Form
Orthostatic hypotension, Abnormal upper motor neuron morphology OMIM:263570
Rubinstein-Taybi Syndrome 1
Radial deviation of thumb terminal phalanx, Patent ductus arteriosus, Syndactyly, Broad hallux, C... OMIM:180849
Charge Syndrome
Omphalocele, Arrhinencephaly, Absent tibia, Cleft palate, Dysplastic tricuspid valve, Duodenal at... OMIM:214800
Bohring-Opitz Syndrome
Cleft palate, Bilateral wrist flexion contracture, Cardiomegaly, Bradycardia, Fixed elbow flexion... ORPHA:97297
Monosomy 9Q22.3
Polydactyly, Palmar pits, Cardiac fibroma, Hydrocephalus, Short neck, Umbilical hernia ORPHA:77301
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Hydrocephalus, Postaxial polydactyly OMIM:219730
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Omphalocele, Cleft palate, Postaxial polydactyly, Rhizomelia, Patent ductus arteriosus, Preaxial ... OMIM:616300
Tarp Syndrome
Cleft palate, Rocker bottom foot, Postaxial polydactyly, Talipes equinovarus, Tongue nodules, Glo... ORPHA:2886
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Anomaly of lower limb diaphyses, Abnormal heart... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Anomaly of lower limb diaphyses, Abnormal heart... ORPHA:363958
Semilobar Holoprosencephaly
Dysphagia, Cleft palate, High palate, Neural tube defect, Morphological abnormality of the gastro... ORPHA:220386
Alobar Holoprosencephaly
Dysphagia, Cleft palate, High palate, Neural tube defect, Morphological abnormality of the gastro... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Dysphagia, Cleft palate, High palate, Neural tube defect, Morphological abnormality of the gastro... ORPHA:93926
Lobar Holoprosencephaly
Dysphagia, Cleft palate, High palate, Neural tube defect, Morphological abnormality of the gastro... ORPHA:93924
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head OMIM:616629
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Hypertension, Cardiomegaly OMIM:618886
Dyrk1A-Related Intellectual Disability Syndrome
Pyloric stenosis, Hallux valgus, Toe syndactyly, Ventricular septal defect, Polydactyly, Duodenal... ORPHA:464306
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Dysphagia, Neonatal death, Cardiomegaly, Splenomegaly, Hepatosplenomegaly OMIM:608013
Neurofibromatosis, Type I
Hypertension, Genu valgum, Spina bifida, Hydrocephalus, Tibial pseudarthrosis, Aqueductal stenosis OMIM:162200
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Abnormal heart morphology, High palate, Polydactyly ORPHA:314655
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short long bone, Polydactyly, Brachydactyly OMIM:613819
Lethal Congenital Contracture Syndrome 1
Neonatal death, Paucity of anterior horn motor neurons OMIM:253310
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology OMIM:215470
Degcags Syndrome
Pyloric stenosis, Talipes equinovarus, Patent ductus arteriosus, Hepatosplenomegaly, Syndactyly, ... OMIM:619488
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Pyloric stenosis, Hallux valgus, Short 5th toe, Ventricular septal defect, Dysphagia, Polydactyly... ORPHA:268261
Proteasome-Associated Autoinflammatory Syndrome 1
Hallux valgus, Hepatomegaly, Flexion contracture of toe, Hypoplastic scapulae, Macroglossia, Long... OMIM:256040
Peters-Plus Syndrome
Cleft palate, Retinal coloboma, Short metatarsal, Proximal placement of thumb, Patent ductus arte... OMIM:261540
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Hallux valgus, Ventricular septal defect, High, na... OMIM:300967
Constricting Bands, Congenital
Omphalocele, Ectopia cordis, Cleft palate, Talipes equinovarus, Gastroschisis, Syndactyly, Hand p... OMIM:217100
Singleton-Merten Syndrome 1
Expanded metacarpals with widened medullary cavities, Talipes equinovarus, Hypoplastic distal rad... OMIM:182250
Pallister-Hall Syndrome
Arrhinencephaly, Polydactyly affecting the 4th finger, Cleft palate, Broad toe, Microglossia, Pat... ORPHA:672
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Cervical cord compression, Cardiac conduction abnormality, Syringomyelia, ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Cervical cord compression, Cardiac conduction abnormality, Syringomyelia, ... ORPHA:353277
Truncus Arteriosus
Ventricular septal defect, Truncus arteriosus, Right ventricular hypertrophy, Abnormal heart morp... ORPHA:3384
Septooptic Dysplasia
Polydactyly, Short finger OMIM:182230
Glycogen Storage Disease Ii
Hepatomegaly, Macroglossia, Cardiomegaly, Splenomegaly, Wolff-Parkinson-White syndrome, Shortened... OMIM:232300
Sandhoff Disease
Hepatomegaly, Macroglossia, Orthostatic hypotension, Cardiomegaly, Hepatosplenomegaly OMIM:268800
Joubert Syndrome 17
Syndactyly, Polydactyly OMIM:614615
Khan-Khan-Katsanis Syndrome
Dysphagia, Postaxial polydactyly, Abnormal heart morphology, Clinodactyly, Patent ductus arterios... OMIM:618460
Abetalipoproteinemia
Hepatomegaly, Talipes equinovarus, Cardiomegaly, Steatorrhea, Congestive heart failure, Fat malab... ORPHA:14
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Congestive heart failure, Cardiomegaly, Cardiomyopathy OMIM:619259
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, High palate, Macroglossia, Cardiomegaly, Patent ductus a... ORPHA:96191
Exstrophy-Epispadias Complex
Omphalocele, Abnormal heart morphology, Anal atresia, Spina bifida, Hydrocephalus, Abnormality of... ORPHA:322
Orofaciodigital Syndrome Xiv
Ventricular septal defect, Cleft palate, Hamartoma of tongue, Postaxial polydactyly, Holoprosence... OMIM:615948
Roberts-Sc Phocomelia Syndrome
Ventricular septal defect, Cleft palate, Hand oligodactyly, High palate, Phocomelia, Tetraphocome... OMIM:268300
Japanese Encephalitis
Stiff neck, Talipes equinovarus, Hyperintensity of MRI T2 signal of the spinal cord, Distal upper... ORPHA:79139
Congenital Tracheomalacia
Ventricular septal defect, Abnormal heart morphology, Single ventricle, Cardiomegaly, Esophageal ... ORPHA:95430
Rabson-Mendenhall Syndrome
Ventricular septal defect, High palate, Polydactyly, Macroglossia, Enlarged ovaries, Cardiomyopat... ORPHA:769
Legius Syndrome
Mitral valve prolapse, Polydactyly, Paroxysmal atrial tachycardia, Desmoid tumors, Pulmonic steno... ORPHA:137605
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape, Hepatomegaly, Polydactyly, Patent duct... ORPHA:17
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele OMIM:193500
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Dysphagia, Macroglossia, Cardiomegaly, Left ventricula... ORPHA:365
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Beckwith-Wiedemann Syndrome
Hypertrophic cardiomyopathy, Omphalocele, Hepatomegaly, Cleft palate, Macroglossia, Cardiomegaly,... ORPHA:116
Kinsship Syndrome
Polydactyly, Fibular hypoplasia, Dislocated radial head, Hip dislocation, Ankyloglossia, Mesomeli... OMIM:619297
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
Sickle Cell Anemia