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Gene: Dusp6 MGI:1914853

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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:
dual specificity phosphatase 6
Synonyms:
MKP3,  PYST1,  1300019I03Rik,  MKP-3

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 Dusp6 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 Dusp6 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Osteoporosis, Hearing impairment OMIM:615269
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteopenia, Eunuchoid habitus, Congenital sensorineural hearing impairment, Generalized joint lax... ORPHA:432
Kallmann Syndrome
Obesity, Sensorineural hearing impairment, Recurrent fractures, Reduced bone mineral density ORPHA:478

The table below shows human diseases predicted to be associated to Dusp6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Aurocephalosyndactyly
4-5 toe syndactyly, Craniosynostosis, Hearing impairment OMIM:109050
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ... OMIM:128980
Summitt Syndrome
Syndactyly, Oxycephaly, Obesity, Craniosynostosis OMIM:272350
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... OMIM:616515
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment... ORPHA:3232
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Facial palsy, Craniosynostosis, Optic atrophy, Brachycephaly, Thi... ORPHA:178377
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Craniosynostosis, Adelaide Type
Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m... OMIM:600593
Ethanolaminosis
Cardiomegaly OMIM:227150
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome
Sensorineural hearing impairment, Craniosynostosis ORPHA:2866
Chromosome 2Q35 Duplication Syndrome
Sagittal craniosynostosis, 2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Dista... OMIM:185900
Trigonocephaly With Short Stature And Developmental Delay
Small for gestational age, Posteriorly rotated ears, Sagittal craniosynostosis, Premature posteri... OMIM:314320
Deafness, Progressive, With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment OMIM:601449
Progressive Deafness With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment ORPHA:3235
Craniosynostosis 3
Hallux valgus, Sagittal craniosynostosis, Left unicoronal synostosis, Right unicoronal synostosis... OMIM:615314
Craniosynostosis 1
Frontal bossing, Turricephaly, Sagittal craniosynostosis, Craniosynostosis, Oxycephaly, Scaphocep... OMIM:123100
Craniosynostosis, Philadelphia Type
Finger syndactyly, Craniosynostosis ORPHA:1527
Symphalangism, Distal
Craniosynostosis, Distal symphalangism of hands, Distal foot symphalangism, Absent dorsal skin cr... OMIM:185700
Symphalangism, Proximal, 1A
Stapes ankylosis, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... OMIM:185800
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... ORPHA:90646
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Low-set, posteriorly rotated ears, Small for gestational age, Fifth finger distal phalanx clinoda... ORPHA:3369
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Toe syndactyly, Broad hallux, Congenital stapes ankylosis, Proximal/middle symp... OMIM:184460
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Summitt Syndrome
Finger syndactyly, Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Obesity, G... ORPHA:3210
Craniosynostosis 7
Craniosynostosis OMIM:617439
Craniosynostosis 5, Susceptibility To
Craniosynostosis OMIM:615529
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Frontal bossing, Optic atrophy, Orbital craniosynostosis, Dolichocephaly ORPHA:1538
Kleeblattschaedel
Cloverleaf skull, Elbow ankylosis, Craniosynostosis OMIM:148800
Craniosynostosis 6
Turricephaly, Delayed cranial suture closure, Craniosynostosis, Parietal foramina, Sensorineural ... OMIM:616602
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... OMIM:618654
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Hitchhiker thumb, Hearing impairment, Capitate-hamate fusion, Radial head sublu... OMIM:614078
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Sensorineural hearing impairment, Rickets, Hypo... OMIM:241520
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Jackson-Weiss Syndrome
Broad hallux, Calcaneonavicular fusion, Craniosynostosis, Hallux varus, Broad first metatarsal, 2... OMIM:123150
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Muenke Syndrome
Broad hallux, Hearing impairment, Capitate-hamate fusion, Clinodactyly, Sensorineural hearing imp... OMIM:602849
Greig Cephalopolysyndactyly Syndrome
Frontal bossing, Broad hallux phalanx, Broad hallux, Craniosynostosis, Trigonocephaly, 1-3 toe sy... OMIM:175700
Hydrocephalus, Autosomal Dominant
Sagittal craniosynostosis OMIM:123155
Craniosynostosis-Mental Retardation-Clefting Syndrome
Forearm undergrowth, Craniosynostosis, Lower limb undergrowth OMIM:218650
Craniotelencephalic Dysplasia
Low-set, posteriorly rotated ears, Frontal bossing, Septo-optic dysplasia, Craniosynostosis, Opti... ORPHA:1528
Congenital Disorder Of Glycosylation, Type Iin
Osteopenia, Craniosynostosis, Joint hypermobility, Hearing impairment OMIM:616721
Greig Cephalopolysyndactyly Syndrome
Frontal bossing, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Craniosynostosis, Preax... ORPHA:380
Hypophosphatasia, Childhood
Frontal bossing, Bowing of the legs, Craniosynostosis, Dolichocephaly OMIM:241510
Carpenter Syndrome
Syndactyly, Turricephaly, Cloverleaf skull, Finger syndactyly, Toe syndactyly, Craniosynostosis, ... ORPHA:65759
Cranioectodermal Dysplasia
Frontal bossing, Finger syndactyly, Brachydactyly, Craniosynostosis, Osteoporosis, Prominent occi... ORPHA:1515
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Frontal bossing, Craniosynostosis, Low-set ears, Dolichocephaly, Clinodactyly of the 5th finger, ... ORPHA:1516
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Brachycephaly, Oligodactyly OMIM:614416
Craniosynostosis 2
Frontal bossing, Turricephaly, Wormian bones, Craniosynostosis, Unicoronal synostosis, Brachyceph... OMIM:604757
Acrocraniofacial Dysostosis
Triphalangeal thumb, Abnormality of the malleus, Conductive hearing impairment, Spina bifida occu... ORPHA:949
Craniofrontonasal Dysplasia
Frontal bossing, Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Cr... ORPHA:1520
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Turricephaly, Toe syndactyly, Bowing of the long bones, Craniosynostosis, Large fontanelles, Brac... ORPHA:171839
Ravine Syndrome
Failure to thrive, Abnormal auditory evoked potentials, Decreased body weight ORPHA:99852
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Arthropathy, Craniosynostosis, Scaphocephaly, Hip dislocation, Clubbing, Recurrent otitis media, ... OMIM:618523
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Craniosynostosis, Plagiocephaly, Slender long bone, Decreased calvarial ossification, Decreased b... OMIM:618265
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Craniosynostosis, Low-set ears OMIM:614732
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Osteopetrosis, Autosomal Recessive 1
Frontal bossing, Increased bone mineral density, Osteomyelitis, Femur fracture, Facial palsy, Cra... OMIM:259700
Cutis Laxa, Autosomal Recessive, Type Iie
Joint laxity, Syndactyly, Brachydactyly, Craniosynostosis, Hearing impairment, Hip dislocation, C... OMIM:619451
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Frontal bossing, Craniosynostosis, Brachycephaly, Low-set ears, Macrotia ORPHA:314575
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Turricephaly, Craniosynostosis, Split hand, Brachycephaly, Abnormal antihelix ... ORPHA:2145
Multiple Synostoses Syndrome 1
Symphalangism affecting the phalanges of the hand, Cutaneous finger syndactyly, Lower limb underg... OMIM:186500
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Flat occiput, Optic nerve hypoplasia, Delayed closure of the anterior fontanelle, Brachycephaly, ... OMIM:618736
Hunter-Mcalpine Craniosynostosis Syndrome
Craniosynostosis OMIM:601379
Hypophosphatasia
Bowing of the long bones, Failure to thrive in infancy, Recurrent fractures, Craniosynostosis, La... ORPHA:436
Autosomal Recessive Omodysplasia
Frontal bossing, Abnormal morphology of the radius, Posteriorly rotated ears, Craniosynostosis, E... ORPHA:93329
Pfeiffer Syndrome Type 1
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short h... ORPHA:93258
Marshall-Smith Syndrome
Bowing of the long bones, Craniosynostosis, Optic atrophy, Increased susceptibility to fractures,... ORPHA:561
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Brachycephaly, Clinodactyly of the 5th finger,... OMIM:201000
Muenke Syndrome
Tarsal synostosis, Sensorineural hearing impairment, Brachycephaly, Plagiocephaly, Cone-shaped ep... ORPHA:53271
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Increased var... OMIM:614096
Bent Bone Dysplasia Syndrome 1
Bent long bone, Hypoplastic pubic bone, Decreased calvarial ossification, Short clavicles, Low-se... OMIM:614592
Osteoglosphonic Dysplasia
Failure to thrive in infancy, Craniosynostosis, Protruding ear, Abnormal bone ossification, Brach... ORPHA:2645
Crouzon Syndrome
Frontal bossing, Turricephaly, Optic atrophy, Brachycephaly, Multiple suture craniosynostosis, Co... ORPHA:207
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Abnormal bone o... ORPHA:93323
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Frontal bossing, Short fourth metatarsal, Short metacarpal, Overlapping toe, Craniosy... OMIM:616723
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Craniosynostosis ORPHA:88643
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Gorham-Stout Disease
Osteopenia, Osteomyelitis, Abnormal pelvis bone morphology, Abnormal occipital bone morphology, O... ORPHA:73
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... OMIM:607685
Fgfr2-Related Bent Bone Dysplasia
Osteopenia, Overfolding of the superior helices, Hypoplastic ischia, Bowing of the legs, Metopic ... ORPHA:313855
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Small for gestational age, Bilateral sensorineural hearing impairment, ... OMIM:616943
Craniosynostosis And Dental Anomalies
Flat occiput, Brachycephaly, Coronal craniosynostosis, Conductive hearing impairment, Chronic oti... OMIM:614188
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Abnormality of the ear, Cox... ORPHA:457395
X-Linked Intellectual Disability, Cilliers Type
Macrotia, Small hand, Clinodactyly of the 5th finger, Coronal craniosynostosis, Failure to thrive ORPHA:163971
Hartsfield Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the radius, Split hand, Craniosynostosis ORPHA:2117
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
16P13.11 Microduplication Syndrome
Arachnodactyly, Craniosynostosis, Joint hyperflexibility, Hand polydactyly, Dolichocephaly ORPHA:261243
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Antley-Bixler Syndrome
Low-set, posteriorly rotated ears, Frontal bossing, Turricephaly, Arachnodactyly, Camptodactyly o... ORPHA:83
Gomez-Lopez-Hernandez Syndrome
Turricephaly, Posteriorly rotated ears, Craniosynostosis, Wide anterior fontanel, Brachycephaly, ... OMIM:601853
Holoprosencephaly, Semilobar, With Craniosynostosis
Coronal craniosynostosis, Short distal phalanx of finger, Lambdoidal craniosynostosis, Coxa valga OMIM:601370
Saethre-Chotzen Syndrome
Brachycephaly, Triphalangeal thumb, Conductive hearing impairment, Clinodactyly of the 5th finger... ORPHA:794
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Frontal bossing, Arachnodactyly, Rocker bottom foot, Abnormal pinna morphology, Wide anterior fon... OMIM:207410
Danon Disease
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... ORPHA:85451
X-Linked Intellectual Disability, Van Esch Type
Clinodactyly of the 5th finger, Coronal craniosynostosis, Failure to thrive, Microtia ORPHA:163976
Parenti-Mignot Neurodevelopmental Syndrome
Frontal bossing, Posteriorly rotated ears, Craniosynostosis, Cupped ear, Microtia, Low-set ears OMIM:619873
Macrocephaly-Developmental Delay Syndrome
Frontal bossing, Craniosynostosis, Scaphocephaly, Abnormal speech discrimination, Clinodactyly of... ORPHA:397612
Crouzon Syndrome With Acanthosis Nigricans
Brachycephaly, Craniosynostosis, Midface retrusion OMIM:612247
Craniosynostosis 4
Optic nerve hypoplasia, Sagittal craniosynostosis, Pansynostosis, Lambdoidal craniosynostosis, Me... OMIM:600775
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Neona... OMIM:600501
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... OMIM:617519
Cardiocranial Syndrome, Pfeiffer Type
Low-set, posteriorly rotated ears, Contracture of the proximal interphalangeal joint of the 2nd f... ORPHA:2872
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Abnormal left ventricular function,... ORPHA:2041
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Jaundice, Pulmonic valve myxoma,... ORPHA:615
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Cdags Syndrome
Frontal bossing, Sagittal craniosynostosis, Parietal foramina, Sensorineural hearing impairment, ... OMIM:603116
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
EEG with polyspike wave complexes, Limb joint contracture, Failure to thrive in infancy, Craniosy... ORPHA:284417
Slc35A2-Cdg
Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Coxa valga, Metata... ORPHA:356961
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Craniosynostosis, Obesity, Microtia, Low-set ears, Joint hypermobility, Hearing impairment OMIM:619056
X-Linked Hypophosphatemia
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Enthesitis, ... ORPHA:89936
Adducted Thumbs Syndrome
Arthrogryposis multiplex congenita, Craniosynostosis OMIM:201550
Craniosynostosis With Fibular Aplasia
Craniosynostosis, Fibular aplasia OMIM:218550
Lowry-Maclean Syndrome
Craniosynostosis OMIM:600252
Larsen Syndrome
Finger syndactyly, Brachydactyly, Large joint dislocations, Craniosynostosis, Accessory carpal bo... ORPHA:503
Hypophosphatasia, Infantile
Craniosynostosis, Bowing of the legs, Increased susceptibility to fractures, Decreased calvarial ... OMIM:241500
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca... ORPHA:860
Cole-Carpenter Syndrome 2
Osteopenia, Frontal bossing, Wide cranial sutures, Turricephaly, Recurrent fractures, Lambdoidal ... OMIM:616294
Chromosome 5P13 Duplication Syndrome
Frontal bossing, Turricephaly, Small for gestational age, Posteriorly rotated ears, Craniosynosto... OMIM:613174
Distal Deletion 10Q
2-3 toe cutaneous syndactyly, Short metatarsal, Brachycephaly, Protruding ear, Clinodactyly of th... ORPHA:96148
Robinow-Sorauf Syndrome
Hallux valgus, Broad hallux, Craniosynostosis, Plagiocephaly, Pansynostosis, Duplication of the d... OMIM:180750
Seckel Syndrome
Sandal gap, Craniosynostosis, Cachexia, Abnormal earlobe morphology, Cone-shaped epiphysis, Joint... ORPHA:808
Cranioectodermal Dysplasia 4
Frontal bossing, Sagittal craniosynostosis, Protruding ear, Hip dysplasia, Cutaneous finger synda... OMIM:614378
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Underfolded helix, Abno... ORPHA:178303
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ulnar deviation of the wrist, Unilambdoid synostosis, Brachycephaly, Plagiocephaly, Clinodactyly,... OMIM:618577
Crouzon Syndrome
Frontal bossing, Sagittal craniosynostosis, Optic atrophy, Brachycephaly, Atresia of the external... OMIM:123500
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Vertebral fusion, Posteriorly rotated ears, Elbow contracture, Craniosynostosis,... OMIM:178110
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Frontoocular Syndrome
Trigonocephaly, Coronal craniosynostosis, Posteriorly rotated ears, Low-set ears OMIM:605321
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Cardiomegaly OMIM:300886
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Frontal bossing, Recurrent fractures, Craniosynostosis, Joint hypermobility OMIM:147060
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Syndactyly, Stapes ankylosis, Brachycephaly, Coxa vara, 2-3 toe syndactyly, Radioulnar synostosis... OMIM:614701
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly ORPHA:85447
Arthrogryposis, Distal, Type 2A
Joint dislocation, Hip contracture, Flexion contracture of finger, Failure to thrive, Small for g... OMIM:193700
Apert Syndrome
Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Cutaneous finger syndacty... OMIM:101200
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Craniosynostosis OMIM:218670
19P13.12 Microdeletion Syndrome
Finger syndactyly, Toe clinodactyly, Sandal gap, Craniosynostosis, External ear malformation, Con... ORPHA:254346
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se... OMIM:601455
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Multiple joint dislocation, Brachycephaly, Knee dislocation, Shoulder dislocation, Pr... OMIM:245600
Prognathism, Mandibular
Craniosynostosis OMIM:176700
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Craniosynostosis, Abnormality of thumb phalanx, Preaxial hand ... ORPHA:1553
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Recurrent fractures, Reduced bone mineral density, Increased susceptibility to frac... OMIM:166220
3Q29 Microduplication Syndrome
Toe syndactyly, Sandal gap, Craniosynostosis, Large fontanelles, Obesity, Biparietal narrowing, L... ORPHA:251038
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Overlapping fingers, Small for gestational age, Rocker bottom foot, Craniosynostosis, Coxa valga,... OMIM:301056
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... OMIM:620135
Trigonocephaly 1
Metopic synostosis, Trigonocephaly, Craniosynostosis OMIM:190440
Frontometaphyseal Dysplasia 1
Carpal synostosis, Limited elbow movement, Knee flexion contracture, Increased density of long bo... OMIM:305620
Coffin-Siris Syndrome 7
Posteriorly rotated ears, Sagittal craniosynostosis, Hearing impairment, Recurrent otitis media, ... OMIM:618027
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... OMIM:614473
Pycnodysostosis
Joint laxity, Frontal bossing, Increased bone mineral density, Persistent open anterior fontanell... ORPHA:763
Chromosome 10Q26 Deletion Syndrome
Frontal bossing, Congenital hip dislocation, Toe syndactyly, Sandal gap, Craniosynostosis, Small ... OMIM:609625
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Optic disc pallor, Flexion contracture, Craniosynostosis, Hypsarrhythmia OMIM:619076
Frontometaphyseal Dysplasia
Limited elbow movement, Metaphyseal widening, Short metatarsal, Conductive hearing impairment, Sp... ORPHA:1826
Cole-Carpenter Syndrome 1
Osteopenia, Frontal bossing, Recurrent fractures, Reduced bone mineral density, Wormian bones, Co... OMIM:112240
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... ORPHA:439
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Craniosynostosis, Joint hypermobility OMIM:618906
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Osteopenia, Joint dislocation, Genu recurvatum, Flexion contracture, Dislocated radial head, Join... OMIM:130070
Multiple Synostoses Syndrome 4
Otosclerosis, Overlapping toe, Tarsal synostosis, Brachydactyly OMIM:617898
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Hypoplasia of the ulna, Large for gestational age, Osteoporosis, Brachycephaly, Multi... OMIM:615398
Osteogenesis Imperfecta, Type I
Osteopenia, Otosclerosis, Recurrent fractures, Increased susceptibility to fractures, Femoral bow... OMIM:166200
Enlarged Parietal Foramina
Parietal foramina, Broad thumb, Short clavicles, Craniosynostosis ORPHA:60015
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... ORPHA:52368
Osteoglophonic Dysplasia
Osteopenia, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, Broad metacar... OMIM:166250
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... ORPHA:57777
Shprintzen-Goldberg Syndrome
Osteopenia, Frontal bossing, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, C... ORPHA:2462
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Joint laxity, Frontal bossing, Genu recurvatum, Arachnodactyly, Craniosynostosis, Dol... OMIM:182212
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Fg Syndrome Type 1
Limited elbow extension and supination, Finger syndactyly, Broad toe, Progressive flexion contrac... ORPHA:93932
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Knee... OMIM:609945
Corpus Callosum Agenesis-Neuronopathy Syndrome
EEG abnormality, Turricephaly, Craniosynostosis ORPHA:1496
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Coxa valga, Sensorineural hearing impairment, Hip dislocatio... OMIM:109120
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Vacuolated lymphocytes, Ascites OMIM:269920
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, 2-3 toe cutaneous syndactyly, Knee flexion contracture, Femoral bowing,... OMIM:600920
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Conductive hearing impairment, Sensorineural hearing impairment, Obesity, Hand ... ORPHA:261197
3Mc Syndrome
Abnormal pinna morphology, Craniosynostosis, Hearing impairment, Hip dislocation, Large fleshy ea... ORPHA:293843
Otosclerosis 1
Conductive hearing impairment, Otosclerosis OMIM:166800
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Sagittal craniosynostosis, Scaphocephaly, Small hand, Brachycephaly, Low-set ears, Camptodactyly,... ORPHA:459061
Microcephaly-Micromelia Syndrome
Craniosynostosis, Absent thumb, Absent radius, Humeroradial synostosis, Forearm undergrowth, Low-... OMIM:251230
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Congestive heart failure, Microvesicular hepatic steatosis, Cardiomyo... OMIM:212140
Pfeiffer Syndrome
Syndactyly, Finger syndactyly, Cloverleaf skull, Broad hallux, Shortening of all middle phalanges... OMIM:101600
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuol... OMIM:256550
Schinzel-Giedion Syndrome
Tibial bowing, Wide anterior fontanel, Hypsarrhythmia, Abnormal cochlea morphology, Sclerosis of ... ORPHA:798
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Frontal bossing, Short metacarpal, Brachydactyly, Metaphyseal dysplasia, Craniosynostosis, Metaph... OMIM:250410
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Holoprosencephaly-Craniosynostosis Syndrome
Brachydactyly, Craniosynostosis, Coxa valga, Brachycephaly, Plagiocephaly, Clinodactyly of the 5t... ORPHA:2163
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Metaphyseal widening, Multiple joint dislocation, Arachn... ORPHA:536467
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Hallux valgus, Frontal bossing, Short metacarpal, Craniosynostosis, Metaphyseal chondrodysplasia,... ORPHA:166035
Distal Triplication 15Q
Arachnodactyly, Craniosynostosis, Large for gestational age, Sensorineural hearing impairment, Fl... ORPHA:314588
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Macrovesicular hepat... OMIM:600649
Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome
Joint laxity, Craniosynostosis, Uplifted earlobe, Protruding ear, EEG abnormality, Low-set ears, ... ORPHA:412069
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopath... OMIM:235200
Hamamy Syndrome
Osteopenia, Syndactyly, Long toe, Recurrent fractures, Craniosynostosis, Tapered finger, Down-slo... OMIM:611174
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Flexion contracture, Brachycephaly, Femoral bowing, Conductive hearing impairment, Abnormality of... ORPHA:95699
Pendred Syndrome
Congenital sensorineural hearing impairment, Cochlear malformation, Abnormal vestibular function OMIM:274600
Meier-Gorlin Syndrome 7
Joint laxity, 2-4 finger syndactyly, Craniosynostosis, Sagittal craniosynostosis, Aplasia/Hypopla... OMIM:617063
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric... OMIM:601005
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Frontal bossing, Brachycephaly, Low-set ears, Coronal craniosynostosis, Calvarial skull defect ORPHA:228390
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hallux valgus, Sandal gap, Camptodactyly of finger, Joint hypermobility, Rocker bottom foot, Post... OMIM:619951
Mitochondrial Complex I Deficiency, Nuclear Type 36
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Trigonocephaly, Scaphocephaly, Low-set ears, Sagittal craniosynostosis OMIM:616901
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... OMIM:252600
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria... OMIM:618652
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia ORPHA:858
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231183
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Unde... ORPHA:50815
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Skeletal muscle hypertrophy, Card... OMIM:300280
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Exercise-induced rhabdomyolysis, Sudden cardiac death, Cardiomegaly, Hepatocellular... OMIM:201475
Lowry-Maclean Syndrome
Osteopenia, Craniosynostosis, Osteoporosis, Small anterior fontanelle, Widely patent coronal sutu... ORPHA:2409
Mosaic Variegated Aneuploidy Syndrome 2
Frontal bossing, Small for gestational age, Craniosynostosis, Round ear, Low-set ears, Dolichocep... OMIM:614114
Slc39A8-Cdg
Osteopenia, Failure to thrive in infancy, Craniosynostosis, Elbow flexion contracture, Knee flexi... ORPHA:468699
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Large posterior fontanelle, Frontal bossing, Tarsal synostosis, Aplastic clavicle, Parietal foram... ORPHA:85199
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Joint dislocation, Multiple joint contractures, Generalized joint laxity, Flexion con... ORPHA:536471
Gorlin-Chaudhry-Moss Syndrome
Brachycephaly, Abnormal metacarpal morphology, Conductive hearing impairment, Coronal craniosynos... ORPHA:2095
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Ear-Patella-Short Stature Syndrome
Microtia, third degree, Posteriorly rotated ears, Camptodactyly of finger, Craniosynostosis, Apla... ORPHA:2554
Distal Duplication 5Q
Hypoplasia of the ulna, Craniosynostosis, Absent thumb, Hypoplasia of the radius, Low-set ears, M... ORPHA:96097
Saethre-Chotzen Syndrome
Brachycephaly, Partial duplication of the distal phalanx of the 3rd finger, Clinodactyly of the 5... OMIM:101400
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Turricephaly, Cloverleaf skull, Craniosynostosis, Hearing abnormality, Aplasia/Hypoplasia of the ... ORPHA:1555
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Xq21 Microdeletion Syndrome
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro... ORPHA:1435
Baller-Gerold Syndrome
Limited elbow movement, Brachycephaly, Patellar hypoplasia, Conductive hearing impairment, Spina ... OMIM:218600
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor, Broad finger OMIM:617523
Aymé-Gripp Syndrome
Prominent metopic ridge, Posteriorly rotated ears, Rocker bottom foot, Craniosynostosis, Tapered ... ORPHA:1272
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Marshall-Smith Syndrome
Large sternal ossification centers, Distal widening of metacarpals, Coxa vara, Prominent fingerti... OMIM:602535
Mucolipidosis Ii Alpha/Beta
Osteopenia, Metaphyseal widening, Split hand, Flat acetabular roof, Flared iliac wing, Trigonocep... OMIM:252500
15Q Overgrowth Syndrome
Low-set, posteriorly rotated ears, Turricephaly, Contracture of the proximal interphalangeal join... ORPHA:314585
Trisomy 10P
Frontal bossing, Wide cranial sutures, Thumb contracture, Small for gestational age, Posteriorly ... ORPHA:171929
Usher Syndrome Type 1
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231169
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund... ORPHA:268
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Brachycephaly, Knee flexion contrac... ORPHA:3103
Hypomandibular Faciocranial Dysostosis
Craniosynostosis, Optic disc coloboma, Brachycephaly, Low-set ears, Trigonocephaly, Midface retru... ORPHA:1790
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Osteoporosis, Hearing impairment OMIM:615269
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... ORPHA:1677
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Low-set, posteriorly rotated ears, Craniosynostosis, Optic atrophy, Plagiocephaly, Brachydactyly ORPHA:457193
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly OMIM:619064
Intellectual Developmental Disorder, Autosomal Dominant 57
Posteriorly rotated ears, Craniosynostosis, Contracture of the proximal interphalangeal joint of ... OMIM:618050
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Joint contracture, Failure to thrive, Optic atrophy OMIM:616881
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
3Mc Syndrome 1
Single interphalangeal crease of fifth finger, Hearing impairment, Wide anterior fontanel, Conduc... OMIM:257920
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Irregular epiphyses, Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoke... OMIM:619260
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Right atrial enlargeme... ORPHA:555874
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Refsum Disease, Classic
Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Arrhythmia OMIM:266500
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy OMIM:252920
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Patent ductus arteriosus, Aortic v... ORPHA:1457
Mucolipidosis Type Ii
Hip contracture, Prominent metopic ridge, Craniosynostosis, Limited wrist movement, Sensorineural... ORPHA:576
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Bradycardia, Hypertrophic cardiomyopathy, Ascites OMIM:614702
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Craniosynostosis, Upper limb undergrowth, Brachycephaly, Obesity, Multifocal epilepti... ORPHA:369837
9Q21.13 Microdeletion Syndrome
Hip dysplasia, Polydactyly, Craniosynostosis ORPHA:531151
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Osteopenia, Short metatarsal, Clinodactyly of the 5th finger, Short phalanx of finger, Broad meta... OMIM:266920
Musculocontractural Ehlers-Danlos Syndrome
Low-set, posteriorly rotated ears, Recurrent joint dislocation, Craniosynostosis, Tapered finger,... ORPHA:2953
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Distal arthrogryposis, Arrhythmia,... ORPHA:42
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, Flat acetabular roof, Fibular h... OMIM:616300
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Broad hallux, Aganglionic megacolon, Shortening of all distal phalanges of the fingers, Plagiocep... OMIM:614749
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Osteomyelitis, Recurrent fractures, Craniosynostosis, Joint hyperflexibility, Chronic... ORPHA:2314
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... OMIM:603903
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... OMIM:261740
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constricti... OMIM:253250
Pseudoaminopterin Syndrome
Limited elbow movement, Patchy reduction of bone mineral density, Synostosis of carpal bones, Low... ORPHA:221120
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Joint laxity, Toe syndactyly, Small for gestational age, Craniosynostosis, 4-5 toe syndactyly, 3-... OMIM:300707
Scarf Syndrome
Low-set, posteriorly rotated ears, Joint hyperflexibility, Short sternum, Craniosynostosis ORPHA:3134
Dubowitz Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Sandal gap, C... ORPHA:235
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Au-Kline Syndrome
Prominent metopic ridge, Overlapping toe, Craniosynostosis, Sagittal craniosynostosis, Postaxial ... OMIM:616580
Alpha-Mannosidosis, Infantile Form
Osteopenia, Joint laxity, Mixed hearing impairment, Optic disc pallor, Craniosynostosis, Joint st... ORPHA:309282
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Osteopenia, Prominent metopic ridge, Craniosynostosis, Plagiocephaly, Hip dysplasia, Abnormal aut... ORPHA:453499
Hypomandibular Faciocranial Dysostosis
Coronal craniosynostosis, Optic disc coloboma OMIM:241310
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... OMIM:232300
Otosclerosis 10
Otosclerosis OMIM:615589
Nablus Mask-Like Facial Syndrome
Frontal bossing, Small earlobe, Sandal gap, Posteriorly rotated ears, Craniosynostosis, Tapered f... OMIM:608156
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Hypertension, Congenital thromboc... OMIM:618886
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Frontal bossing, Short metacarpal, Cloverleaf skull, Craniosynostosis, Limited elbow movement, Pr... ORPHA:508533
3Mc Syndrome 2
Craniosynostosis, Limited elbow movement, Hearing impairment, Hip dislocation, Radioulnar synosto... OMIM:265050
Mullegama-Klein-Martinez Syndrome
Frontal bossing, Facial palsy, Sensorineural hearing impairment, Absent stapes, Microtia, Polydac... OMIM:301022
Beare-Stevenson Cutis Gyrata Syndrome
Cloverleaf skull, Flat occiput, Overlapping toe, Craniosynostosis, Posteriorly rotated ears, Opti... OMIM:123790
Curry-Jones Syndrome
Duplication of thumb phalanx, Unicoronal synostosis, Preaxial hand polydactyly, 2-3 finger syndac... OMIM:601707
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... ORPHA:705
Cerebrooculonasal Syndrome
Frontal bossing, Posteriorly rotated ears, Optic nerve hypoplasia, Proboscis, Craniosynostosis, P... OMIM:605627
Scarf Syndrome
Posteriorly rotated ears, Short sternum, Low-set ears, Lambdoidal craniosynostosis, Coronal crani... OMIM:312830
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Low-set, posteriorly rotated ears, 2-5 finger syndactyly, Prominent metopic ridge, Multiple joint... ORPHA:468631
Familial Aortic Dissection
Aortic regurgitation, Patent ductus arteriosus, Abnormal left ventricular function, Cardiomegaly ORPHA:229
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Short palm, Sensorineural hearing impairment, Spina bifida occulta, Small hand, Short foot, Cutan... OMIM:235510
Tatton-Brown-Rahman Syndrome
Patellar subluxation, Talipes valgus, Optic nerve hypoplasia, Sagittal craniosynostosis OMIM:615879
Cranioectodermal Dysplasia 3
Joint laxity, Frontal bossing, Sandal gap, Sagittal craniosynostosis, Postaxial polydactyly, 2-4 ... OMIM:614099
Cranioectodermal Dysplasia 1
Joint laxity, Frontal bossing, Brachydactyly, Broad toe, Short humerus, Sagittal craniosynostosis... OMIM:218330
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Angina pectoris, Splenomegaly, Vacuolated lymphocytes, Increased muscle lipid conte... ORPHA:565612
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Overlapping toe, Small for gestational age, Craniosynostosis, Tapered finger, Hearing impairment,... OMIM:309590
Mend Syndrome
Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Wide anterior fontanel, Long ... ORPHA:401973
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Os... ORPHA:667
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Joint hypermobility, Joint stiffness, Short long bone, Short palm, Tracheobronchomalacia, Bicoron... OMIM:619184
Choanal Atresia
Tracheomalacia, Polydactyly, Craniosynostosis ORPHA:137914
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Iron d... ORPHA:99931
Teebi Hypertelorism Syndrome 1
Frontal bossing, Coronal craniosynostosis, Small hand, Sagittal craniosynostosis OMIM:145420
Frontonasal Dysplasia 2
Craniosynostosis, Parietal foramina, Brachycephaly, Low-set ears, Anterior plagiocephaly, Calvari... OMIM:613451
Histiocytosis-Lymphadenopathy Plus Syndrome
Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Pancreatic hypoplasia, H... OMIM:602782
Acrocephalopolydactylous Dysplasia
Abnormal pinna morphology, Craniosynostosis, Postaxial hand polydactyly, Oxycephaly, Low-set ears OMIM:200995
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Decreased muscle mass, Portal hypertension, Cardiomegaly, Hepat... ORPHA:465508
7Q11.23 Microduplication Syndrome
Low-set, posteriorly rotated ears, Craniosynostosis, Long fingers, Brachycephaly, Obesity, Abnorm... ORPHA:96121
Bor Syndrome
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... ORPHA:107
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy OMIM:617713
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, ... ORPHA:3427
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Abnormal hemidiaphragm morphology... ORPHA:980
15q26 overgrowth syndrome
Long toe, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Tapered finger, Abnormal toe... DECIPHER:81
Arterial Tortuosity Syndrome
Arachnodactyly, Rocker bottom foot, Craniosynostosis, Coxa valga, Avascular necrosis of the capit... ORPHA:3342
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Arrhythmia, Hepatic steatosis, Cardiomegaly OMIM:255120
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten... ORPHA:308552
Pediatric-Onset Graves Disease
Small anterior fontanelle, Failure to thrive, Craniosynostosis ORPHA:525731
Carpenter Syndrome 2
Preaxial polydactyly, Brachycephaly, Coxa vara, Knee flexion contracture, Protruding ear, Cutaneo... OMIM:614976
Branchiootorenal Syndrome 1
Mixed hearing impairment, Congenital hip dislocation, Facial palsy, Dilatated internal auditory c... OMIM:113650
Cockayne Syndrome B
Small for gestational age, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decrea... OMIM:133540
Craniofrontonasal Syndrome
Joint laxity, Frontal bossing, Toe syndactyly, Broad hallux, Down-sloping shoulders, Brachycephal... OMIM:304110
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia, Osteopetrosis ORPHA:3240
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Osteopenia, Joint laxity, Prominent metopic ridge, Optic nerve hypoplasia, Craniosynostosis, Sagi... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Osteopenia, Joint laxity, Prominent metopic ridge, Optic nerve hypoplasia, Craniosynostosis, Sagi... ORPHA:352665
Hyperlysinemia
EEG with spike-wave complexes, Craniosynostosis, Hypoplasia of the antihelix, Hypoplastic helices... ORPHA:2203
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Vertebral fusion, Overlapping toe, Posteriorly rotated e... OMIM:213980
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve conduction velocity, Op... ORPHA:206436
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Skeletal muscle atrophy, Cardiomegaly, Hepatosplenomegaly,... OMIM:268800
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h... OMIM:239850
1P31P32 Microdeletion Syndrome
Frontal bossing, Craniosynostosis ORPHA:401986
Say-Barber-Miller Syndrome
Low-set, posteriorly rotated ears, Craniosynostosis, Elbow flexion contracture, Hip dislocation, ... ORPHA:3132
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... ORPHA:363705
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Arboleda-Tham Syndrome
Anteverted ears, Chronic otitis media, Small earlobe, Prominent antitragus, Genu varum, Short hal... OMIM:616268
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Sagittal craniosynostosis, Wide anterior fontanel, Sensorineural hearing impairment, ... OMIM:610199
Koolen-De Vries Syndrome Due To A Point Mutation
Joint laxity, Joint dislocation, Prominent fingertip pads, Anomaly of lower limb diaphyses, Arach... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Joint laxity, Joint dislocation, Prominent fingertip pads, Anomaly of lower limb diaphyses, Arach... ORPHA:363958
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hyperextensibility of the finger joints, Arachnodactyly, Craniosynostosis, Long fingers, Scaphoce... OMIM:616914
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Frontal bossing, Posteriorly rotated ears, Optic nerve hypoplasia, Craniosynostosis, Low-set ears... OMIM:617506
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Frontal bossing, Craniosynostosis ORPHA:1064
Paternal Uniparental Disomy Of Chromosome 1
Recurrent fractures, Craniosynostosis, Obesity ORPHA:251004
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Intrahe... OMIM:614921
Trichothiodystrophy
Osteopenia, Joint dislocation, Increased bone mineral density, Multiple joint contractures, Crani... ORPHA:33364
Noonan Syndrome 3
Frontal bossing, Posteriorly rotated ears, Thickened helices, Sagittal craniosynostosis, Scaphoce... OMIM:609942
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Limb muscle weakness, Increased hepatic g... OMIM:619259
Cranioectodermal Dysplasia 2
Joint laxity, Frontal bossing, Syndactyly, Cloverleaf skull, Craniosynostosis, Simple ear, Postax... OMIM:613610
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly OMIM:618838
Cardiospondylocarpofacial Syndrome
Joint laxity, Posteriorly rotated ears, Tarsal synostosis, Conductive hearing impairment, Congeni... OMIM:157800
Generalized Arterial Calcification Of Infancy
Abnormality of the knee, Stapes ankylosis, Calcification of the auricular cartilage, Failure to t... ORPHA:51608
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Frontal bossing, Craniosynostosis, Tapered finger, Scaphocephaly, Small hand, Hip dysplasia, Micr... OMIM:620005
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... ORPHA:101085
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... OMIM:306955
Cerebrotendinous Xanthomatosis
Osteopenia, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased n... ORPHA:909
Cockayne Syndrome A
Hip contracture, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve ... OMIM:216400
Fontaine Progeroid Syndrome
Syndactyly, Turricephaly, Small for gestational age, Posteriorly rotated ears, Craniosynostosis, ... OMIM:612289
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Foot joint contracture, Macrotia, Optic atrophy, Failure to ... ORPHA:90321
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Joint hypermobility, Osteoporosis, Anterior plagiocephaly, Bicoronal synostosis OMIM:619718
Ctcf-Related Neurodevelopmental Disorder
Osteopenia, Broad hallux phalanx, Low-set, posteriorly rotated ears, Sandal gap, Small for gestat... ORPHA:363611
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension OMIM:208000
17Q24.2 Microdeletion Syndrome
Otosclerosis, Failure to thrive in infancy, Upper limb undergrowth, Truncal obesity, Microtia, Br... ORPHA:529962
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Toe syndactyly, Posteriorly rotated ears, Uplifted earlobe,... OMIM:607932
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Zttk Syndrome
Frontal bossing, Craniosynostosis, Flexion contracture, Small hand, Optic atrophy, Protruding ear... OMIM:617140
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... ORPHA:99027
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Cardiomyopathy, Camptodactyly... ORPHA:158687
Hartsfield Syndrome
Syndactyly, Posteriorly rotated ears, Craniosynostosis, Ectrodactyly, Low-set ears, Hypoplasia of... OMIM:615465
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Cardiomegaly, Flexion contracture, Hypertrophic cardiomyopathy, Ascites OMIM:616897
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Hypoplasia ... OMIM:617022
Treacher Collins Syndrome 2
Anotia, Conductive hearing impairment, Fusion of middle ear ossicles, Microtia OMIM:613717
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension, Cardiomegaly OMIM:613320
Roberts-Sc Phocomelia Syndrome
Brachycephaly, Tetraphocomelia, Knee flexion contracture, Phocomelia, Wrist flexion contracture, ... OMIM:268300
Opitz Gbbb Syndrome
Prominent metopic ridge, Posteriorly rotated ears, Craniosynostosis, Large fontanelles, Low-set e... ORPHA:2745
Beck-Fahrner Syndrome
Facial hypotonia, Ventricular septal defect, Cardiomegaly OMIM:618798
Degcags Syndrome
Osteopenia, Syndactyly, Toe syndactyly, Small for gestational age, Posteriorly rotated ears, Cran... OMIM:619488
Hennekam Syndrome
Finger syndactyly, Camptodactyly of finger, Craniosynostosis, External ear malformation, Low-set ... ORPHA:2136
Gabriele-De Vries Syndrome
Hallux valgus, Sandal gap, Small for gestational age, Craniosynostosis, Posteriorly rotated ears,... ORPHA:506358
Branchioskeletogenital Syndrome
Amelia involving the lower limbs, Attached earlobe, Mixed hearing impairment, Craniosynostosis, U... ORPHA:1299
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prominent o... ORPHA:79330
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Fucosidosis
Hepatomegaly, Decreased muscle mass, Abnormality of the gallbladder, Cardiomegaly ORPHA:349
22Q11.2 Deletion Syndrome
Turricephaly, Arachnodactyly, Aganglionic megacolon, Conductive hearing impairment, Optic atrophy... ORPHA:567
Peters-Plus Syndrome
Limited elbow movement, Proximal placement of thumb, Short metatarsal, Protruding ear, Square pel... OMIM:261540
Proteus Syndrome
Hallux valgus, Finger syndactyly, Macrodactyly, Craniosynostosis, Joint stiffness, Metatarsus val... ORPHA:744
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Frontal bossing, Cloverleaf skull, Arachnodactyly, Tarsal synostosis, Craniosynostosis, Rocker bo... OMIM:201750
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Plagiocephaly, Syndactyly, Unilateral brachydactyly, Craniosynostosis ORPHA:1521
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... ORPHA:3384
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Doors Syndrome
Frontal bossing, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sagittal craniosynostosis, A... ORPHA:79500
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Increased muscle lipid content, Lipid accumul... OMIM:608836
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Heart block, Hepatic calcification, Renal tubular epithelial necrosis... ORPHA:228308
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar muscle atrophy, Ab... ORPHA:2463
Cantú Syndrome
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Neurodegeneration And Seizures Due To Copper Transport Defect
Limb hypertonia, Tricuspid regurgitation, Cardiomegaly OMIM:620306
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... ORPHA:137675
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Failure to thrive, Arachnodactyly, Overlapping toe, Contracture of the distal interphalangeal joi... ORPHA:83617
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Arthrogryposis mu... OMIM:608013
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... OMIM:618278
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ... ORPHA:91387
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Transient ischemic attack, Facial hypotonia, Glycogen accumulation in muscle fiber ... ORPHA:365
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Frontal bossing, Arachnodactyly, Failure to thrive in infancy, Sagittal craniosynostosis, Absent ... ORPHA:500150
Aneurysm-Osteoarthritis Syndrome
Joint laxity, Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptodactyly of fi... ORPHA:284984
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly OMIM:105210
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Failure to thrive, Craniosynostosis ORPHA:79396
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Mucopolysaccharidosis Type 2
Papilledema, Otosclerosis, Decreased nerve conduction velocity, Conductive hearing impairment, Se... ORPHA:580
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Flexion contracture, Macroglossia OMIM:230000
Loeys-Dietz Syndrome 2
Joint laxity, Syndactyly, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Postaxial polyda... OMIM:610168
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly ORPHA:79280
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Multiple joint contractures, Cardiomegaly, Macroglossia, Arthrogryposis multiplex c... OMIM:618143
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Adenoiditis, Splenomegaly, Recurrent tonsillitis, Flexion contracture... ORPHA:581
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... ORPHA:95430
Abetalipoproteinemia
Reticulocytosis, Hepatomegaly, Cardiomegaly, Acanthocytosis, Congestive heart failure, Myopathy, ... ORPHA:14
Loeys-Dietz Syndrome 1
Joint laxity, Arachnodactyly, Craniosynostosis, Postaxial hand polydactyly, Camptodactyly OMIM:609192
Loeys-Dietz Syndrome
Joint dislocation, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Joint hyperflexibility ORPHA:60030
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Macroglossia... OMIM:130650
Bohring-Opitz Syndrome
Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Abno... ORPHA:97297
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Macroglossia ORPHA:96191
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Otosclerosis, Camptodactyly of finger, Sensorineural hearing impairment, Flexion con... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Otosclerosis, Camptodactyly of finger, Sensorineural hearing impairment, Flexion con... ORPHA:217093
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Skeletal muscle atrophy, Camptodactyly of finger, Microcytic anemia, Cardiomegaly, ... OMIM:256040
Ogden Syndrome
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato... OMIM:300855
Loeys-Dietz Syndrome 3
Joint laxity, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Dolichocephaly, Osteoarthrit... OMIM:613795
Sotos Syndrome
Joint laxity, Hip contracture, Aganglionic megacolon, Ankle flexion contracture, Craniosynostosis... ORPHA:821
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... OMIM:300967
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Lymphocytosis,... OMIM:619991
Beckwith-Wiedemann Syndrome
Otosclerosis, Prominent metopic ridge, Large for gestational age, Wide anterior fontanel, Large f... ORPHA:116
Branchiooculofacial Syndrome
Posteriorly rotated ears, Facial palsy, Proximal placement of thumb, Short thumb, Preaxial hand p... OMIM:113620
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Cardiomegaly, Raynaud phenomenon, Neonatal alloimmune thro... ORPHA:51
Aprosencephaly And Cerebellar Dysgenesis
Craniosynostosis OMIM:601374
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Hallux valgus, Syndactyly, Long toe, Broad hallux, Arachnodactyly, Aganglionic megacolon, Posteri... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Uplifted earlobe, Flexion contracture, Calcaneovalgus deformity, Long hallux, Long toe, Syndactyl... ORPHA:261552
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, S... OMIM:182250
Williams Syndrome
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Atrial septal defect, Overriding aort... ORPHA:904
Leukocyte Adhesion Deficiency
Coronal craniosynostosis, Osteomyelitis, Otitis media ORPHA:2968
Norrie Disease
Cachexia, Macrotia, Sensorineural hearing impairment, Optic atrophy, Protruding ear, EEG abnormal... ORPHA:649
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Hypertension, Cardiomyopathy,... ORPHA:3472
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteopenia, Eunuchoid habitus, Congenital sensorineural hearing impairment, Generalized joint lax... ORPHA:432
Kallmann Syndrome
Obesity, Sensorineural hearing impairment, Recurrent fractures, Reduced bone mineral density ORPHA:478

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 Dusp6

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 Dusp6.

No publications found that use IMPC mice or data for Dusp6.

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MGI Allele Allele Type Produced
Dusp6tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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