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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
Hearing impairment, Osteoporosis, Osteopenia OMIM:615269
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteopenia, Osteoporosis, Camptodactyly, Eunuchoid habitus, Congenital sensorineural hearing impa... ORPHA:432
Kallmann Syndrome
Sensorineural hearing impairment, Obesity, Reduced bone mineral density, Recurrent fractures 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
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absence of acoustic reflex, Absent brainstem auditory responses OMIM:601071
Aurocephalosyndactyly
Hearing impairment, Craniosynostosis, 4-5 toe syndactyly OMIM:109050
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Abnormal vestibular function, Absent brainstem audit... OMIM:616515
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Absent stapes head, Abnormal pinna morphology, Bilateral conductive hearing impairment, Abnormali... OMIM:128980
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormal antihelix morphology, Aplasia/Hypoplasia of the earlobes, Abnormal pinna morphology, Fac... ORPHA:3232
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Brachycephaly, Optic atrophy, Increased bone mineral density, Facial palsy, Hearing impairment, C... ORPHA:178377
Deafness, X-Linked 2
Mixed hearing impairment, Conductive hearing impairment, Congenital sensorineural hearing impairm... OMIM:304400
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Craniosynostosis, Adelaide Type
Cone-shaped epiphyses of the phalanges of the hand, Shortening of all middle phalanges of the fin... OMIM:600593
Ethanolaminosis
Cardiomegaly OMIM:227150
Cardiomyopathy, Dilated, 1I
Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ... OMIM:604765
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome
Sensorineural hearing impairment, Craniosynostosis ORPHA:2866
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 2-3 toe syndactyly, 3-4 finger syndactyly, Cutaneous syndactyly, S... OMIM:185900
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
Trigonocephaly With Short Stature And Developmental Delay
Lambdoidal craniosynostosis, Clinodactyly of the 5th finger, Low-set ears, Trigonocephaly, Small ... OMIM:314320
Craniosynostosis 1
Turricephaly, Right unicoronal synostosis, Prominent occiput, Biparietal narrowing, Frontal bossi... OMIM:123100
Craniosynostosis 3
Right unicoronal synostosis, Bicoronal synostosis, Brachydactyly, Left unicoronal synostosis, Hal... OMIM:615314
Craniosynostosis, Philadelphia Type
Finger syndactyly, Craniosynostosis ORPHA:1527
Symphalangism, Distal
Distal symphalangism of hands, Absent dorsal skin creases over affected joints, Brachydactyly, Cr... OMIM:185700
Symphalangism, Proximal, 1A
Tarsal synostosis, Distal symphalangism of hands, Proximal symphalangism of hands, Conductive hea... OMIM:185800
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Low-set, posteriorly rotated ears, Multiple suture craniosynostosis, Trigonocephaly, Small anteri... ORPHA:3369
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Progressive sensorineural hearing impairment, Abnorma... ORPHA:90646
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger, Broad thumb, Conductive he... OMIM:184460
Summitt Syndrome
Short 4th metacarpal, Plagiocephaly, Genu valgum, Clinodactyly of the 5th finger, Finger syndacty... ORPHA:3210
Deafness, Autosomal Dominant 87
Hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochlea type II OMIM:620281
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Congestive heart failure, Abnormal Z disk morphology... OMIM:618654
Craniosynostosis 7
Craniosynostosis OMIM:617439
Craniosynostosis 5, Susceptibility To
Craniosynostosis OMIM:615529
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy, Frontal bossing, Dolichocephaly, Orbital craniosynostosis ORPHA:1538
Kleeblattschaedel
Cloverleaf skull, Elbow ankylosis, Craniosynostosis OMIM:148800
Craniosynostosis 6
Brachycephaly, Plagiocephaly, Turricephaly, Spina bifida occulta, Bicoronal synostosis, Sensorine... OMIM:616602
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment, Abnormal cochlea morphology OMIM:618778
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Increased bone mineral density, Sensorineural hearing impairme... OMIM:241520
Chondrodysplasia With Joint Dislocations, Gpapp Type
Limited elbow extension, Capitate-hamate fusion, Genu valgum, Irregular epiphyses of the metacarp... OMIM:614078
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Jackson-Weiss Syndrome
Short first metatarsal, 2-3 toe syndactyly, Calcaneonavicular fusion, Broad proximal phalanx of t... OMIM:123150
Muenke Syndrome
Brachycephaly, Capitate-hamate fusion, Plagiocephaly, Radial deviation of finger, Recurrent otiti... OMIM:602849
Hypochondroplasia
Limited elbow extension, Flared metaphysis, Short long bone, Trident hand, Frontal bossing, Short... OMIM:146000
Deafness, Autosomal Dominant 86
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:620280
Deafness, Autosomal Dominant 44
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:607453
Hydrocephalus, Autosomal Dominant
Sagittal craniosynostosis OMIM:123155
Craniosynostosis-Mental Retardation-Clefting Syndrome
Craniosynostosis, Lower limb undergrowth, Forearm undergrowth OMIM:218650
Greig Cephalopolysyndactyly Syndrome
Broad thumb, Trigonocephaly, Syndactyly, Craniosynostosis, Abnormal calvaria morphology, Postaxia... OMIM:175700
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Arthropathy, Clubbing, Craniosynostosis, Hip dislocation, Scaphocephaly, ... OMIM:618523
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Congenital Disorder Of Glycosylation, Type Iin
Hearing impairment, Joint hypermobility, Craniosynostosis, Osteopenia OMIM:616721
Craniotelencephalic Dysplasia
Optic atrophy, Low-set, posteriorly rotated ears, Septo-optic dysplasia, Frontal bossing, Cranios... ORPHA:1528
Greig Cephalopolysyndactyly Syndrome
Craniosynostosis, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Frontal bossing, Br... ORPHA:380
Hypophosphatasia, Childhood
Craniosynostosis, Dolichocephaly, Bowing of the legs, Frontal bossing OMIM:241510
Carpenter Syndrome
Polydactyly, Genu valgum, Turricephaly, Craniosynostosis, Finger syndactyly, Cloverleaf skull, Po... ORPHA:65759
Craniosynostosis 2
Brachycephaly, Turricephaly, Triphalangeal thumb, Unicoronal synostosis, Bicoronal synostosis, Me... OMIM:604757
Cranioectodermal Dysplasia
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Clinodactyly of the 5th finger, Jo... ORPHA:1515
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... OMIM:618052
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Clinodactyly of the 5th finger, Stenosis of the external auditory canal, Low-set ears, Frontal bo... ORPHA:1516
Craniofrontonasal Dysplasia
Brachycephaly, Plagiocephaly, Clinodactyly of the 5th finger, Sandal gap, Craniosynostosis, Finge... ORPHA:1520
Deafness, Autosomal Dominant 77
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus OMIM:618915
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Brachycephaly, Large fontanelles, Turricephaly, Craniosynostosis, Microtia, Low-set ears, Bowing ... ORPHA:171839
Ravine Syndrome
Failure to thrive, Decreased body weight, Abnormal auditory evoked potentials ORPHA:99852
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Plagiocephaly, Slender long bone, Decreased body weight, Decreased calvarial ossification, Trigon... OMIM:618265
Acrocraniofacial Dysostosis
Turricephaly, Abnormal hip bone morphology, Sensorineural hearing impairment, Abnormal pinna morp... ORPHA:949
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Low-set ears, Epiphyseal dysplasia, Metaphyseal dysplasia, Craniosynostosis OMIM:614732
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... ORPHA:320401
Cutis Laxa, Autosomal Recessive, Type Iie
Copper beaten skull, Clinodactyly of the 5th finger, Hearing impairment, Syndactyly, Brachydactyl... OMIM:619451
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Brachycephaly, Oligodactyly, Humeroradial synostosis, Arachnodactyly, Craniosynostosis OMIM:614416
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Brachycephaly, Low-set ears, Macrotia, Frontal bossing, Craniosynostosis ORPHA:314575
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Flared metaphysis, Increa... OMIM:259700
Multiple Synostoses Syndrome 1
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Sho... OMIM:186500
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Brachycephaly, Lambdoidal craniosynostosis, Spina bifida occulta, Bicoronal synostosis, Optic ner... OMIM:618736
Hunter-Mcalpine Craniosynostosis Syndrome
Craniosynostosis OMIM:601379
Craniosynostosis, Herrmann-Opitz Type
Brachycephaly, Turricephaly, Finger syndactyly, Abnormal antihelix morphology, Microtia, Split ha... ORPHA:2145
Autosomal Recessive Omodysplasia
Abnormal metaphysis morphology, Abnormal femur morphology, Pterygium, Elbow dislocation, Low-set ... ORPHA:93329
Hypophosphatasia
Abnormal metaphysis morphology, Large fontanelles, Bowing of the long bones, Failure to thrive in... ORPHA:436
Marshall-Smith Syndrome
Optic atrophy, Reduced bone mineral density, Slender long bone, Bowing of the long bones, Conduct... ORPHA:561
Otosclerosis 7
Childhood onset sensorineural hearing impairment, Otosclerosis, Progressive hearing impairment, A... OMIM:611572
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy... OMIM:614096
Pfeiffer Syndrome Type 1
Brachycephaly, Short hallux, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Bicoronal synost... ORPHA:93258
Muenke Syndrome
Brachycephaly, Plagiocephaly, Tarsal synostosis, Sensorineural hearing impairment, Short foot, Co... ORPHA:53271
Osteoglosphonic Dysplasia
Abnormal bone ossification, Failure to thrive in infancy, Brachydactyly, Protruding ear, Craniosy... ORPHA:2645
Gorham-Stout Disease
Osteopenia, Abnormal bone ossification, Abnormal femur morphology, Abnormality of the internal au... ORPHA:73
Fibular Hemimelia
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... ORPHA:93323
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Limited elbow extension, Carpal bone hypoplasia, Small epiphyses, Craniosynostosis, M... OMIM:616723
Carpenter Syndrome 1
Sensorineural hearing impairment, Abnormal pinna morphology, Flared iliac wing, Duplication of th... OMIM:201000
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Abnormal semicircular canal morphology, Absent vesti... OMIM:618013
Fixed Subaortic Stenosis
Pulmonic stenosis, Abnormal heart morphology, Left ventricular hypertrophy, Bicuspid aortic valve... ORPHA:3092
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis, Obesity ORPHA:88643
Hypereosinophilic Syndrome, Idiopathic
Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple... OMIM:607685
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Ascites, Myofiber disarray, Cardiomegaly, Myopathy, Ventricular septal h... OMIM:115197
Crouzon Syndrome
Brachycephaly, Optic atrophy, Turricephaly, Multiple suture craniosynostosis, Hearing impairment,... ORPHA:207
Fgfr2-Related Bent Bone Dysplasia
Osteopenia, Metopic depression, Short clavicles, Abnormality of the outer ear, Steep acetabular r... ORPHA:313855
Bent Bone Dysplasia Syndrome 1
Hypoplastic pubic bone, Short clavicles, Low-set ears, Coronal craniosynostosis, Decreased calvar... OMIM:614592
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Rocker bottom foot, Abnormal hip bone morphology, Short long bone, Short metacarpal, Prominent ca... ORPHA:457395
Craniosynostosis And Dental Anomalies
Chronic otitis media, Turricephaly, Trigonocephaly, Clinodactyly, Short phalanx of finger, Fronta... OMIM:614188
16P13.11 Microduplication Syndrome
Arachnodactyly, Hand polydactyly, Dolichocephaly, Joint hypermobility, Craniosynostosis ORPHA:261243
Trichothiodystrophy 6, Nonphotosensitive
Increased bone mineral density, Bilateral sensorineural hearing impairment, Coronal craniosynosto... OMIM:616943
X-Linked Intellectual Disability, Cilliers Type
Clinodactyly of the 5th finger, Coronal craniosynostosis, Macrotia, Failure to thrive, Small hand ORPHA:163971
Antley-Bixler Syndrome
Brachycephaly, Turricephaly, Low-set, posteriorly rotated ears, Delayed cranial suture closure, F... ORPHA:83
Hartsfield Syndrome
Craniosynostosis, Split hand, Aplasia/Hypoplasia of the radius, Low-set, posteriorly rotated ears ORPHA:2117
Danon Disease
Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiomegaly, Lower limb amyotrophy, At... OMIM:300257
Holoprosencephaly, Semilobar, With Craniosynostosis
Short distal phalanx of finger, Lambdoidal craniosynostosis, Coxa valga, Coronal craniosynostosis OMIM:601370
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Anemia, Reduced left ventricular ... ORPHA:85451
Saethre-Chotzen Syndrome
Sensorineural hearing impairment, Abnormal pinna morphology, Microtia, Broad thumb, Craniosynosto... ORPHA:794
Parenti-Mignot Neurodevelopmental Syndrome
Microtia, Low-set ears, Frontal bossing, Posteriorly rotated ears, Craniosynostosis, Cupped ear OMIM:619873
X-Linked Intellectual Disability, Van Esch Type
Coronal craniosynostosis, Failure to thrive, Microtia, Clinodactyly of the 5th finger ORPHA:163976
Abcd Syndrome
Aganglionic megacolon, Total intestinal aganglionosis, Abnormal auditory evoked potentials, Heari... OMIM:600501
Coronary Arterial Fistula
Aortic valve stenosis, Abnormal heart morphology, Bicuspid aortic valve, Cardiomegaly, Right vent... ORPHA:2041
Macrocephaly-Developmental Delay Syndrome
Clinodactyly of the 5th finger, Frontal bossing, Abnormal speech discrimination, Craniosynostosis... ORPHA:397612
Familial Atrial Myxoma
Congestive heart failure, Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Ascites,... ORPHA:615
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Rocker bottom foot, Brachycephaly, Lambdoidal craniosynostosis, Ulnar bowing, Wide anterior fonta... OMIM:207410
Cardiocranial Syndrome, Pfeiffer Type
Low-set, posteriorly rotated ears, Plantar flexion contracture, Low-set ears, Slender finger, Dol... ORPHA:2872
Slc35A2-Cdg
Osteopenia, Hip subluxation, Abnormal long bone morphology, Craniosynostosis, Hypsarrhythmia, Sen... ORPHA:356961
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, EEG with polyspike wave complexes, EEG with focal sharp waves, Failure... ORPHA:284417
Gomez-Lopez-Hernandez Syndrome
Brachycephaly, Turricephaly, Wide anterior fontanel, Low-set ears, Posteriorly rotated ears, Worm... OMIM:601853
X-Linked Hypophosphatemia
Reduced bone mineral density, Sensorineural hearing impairment, Flared iliac wing, Abnormal epiph... ORPHA:89936
Otosclerosis 11
Otosclerosis, Sensorineural hearing impairment, Absence of acoustic reflex, Conductive hearing im... OMIM:620576
Adducted Thumbs Syndrome
Craniosynostosis, Arthrogryposis multiplex congenita OMIM:201550
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Microtia, Low-set ears, Hearing impairment, Obesity, Joint hypermobility, Craniosynostosis OMIM:619056
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Craniosynostosis OMIM:218550
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Sensorineural hearing impairment, Facial palsy, Absent brainstem audit... OMIM:617519
Hypophosphatasia, Infantile
Stillbirth, Unossified vertebral bodies, Metaphyseal cupping, Decreased calvarial ossification, F... OMIM:241500
Larsen Syndrome
Broad distal phalanx of finger, Craniosynostosis, Large joint dislocations, Finger syndactyly, La... ORPHA:503
Lowry-Maclean Syndrome
Craniosynostosis OMIM:600252
Cdags Syndrome
Brachycephaly, Large fontanelles, Lambdoidal craniosynostosis, Short clavicles, Sensorineural hea... OMIM:603116
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Congestive heart failure, Abnormal ventriculoarterial connection, Hepatomeg... ORPHA:860
Craniosynostosis 4
Lambdoidal craniosynostosis, Bicoronal synostosis, Optic nerve hypoplasia, Coronal craniosynostos... OMIM:600775
Cranioectodermal Dysplasia 4
Protruding ear, Broad distal phalanx of finger, Broad phalanx of the toes, Cutaneous finger synda... OMIM:614378
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Claw hand deformity, Hammertoe, Sensorineural hearing impair... OMIM:601455
Chromosome 5P13 Duplication Syndrome
Brachycephaly, Turricephaly, Low-set ears, Frontal bossing, Long fingers, Posteriorly rotated ear... OMIM:613174
Robinow-Sorauf Syndrome
Plagiocephaly, Broad thumb, Broad hallux, Pansynostosis, Craniosynostosis, Hallux valgus, Duplica... OMIM:180750
Distal Deletion 10Q
Sandal gap, Prominent fingertip pads, Facial diplegia, Cochlear malformation, Congenital sensorin... ORPHA:96148
Crouzon Syndrome With Acanthosis Nigricans
Brachycephaly, Craniosynostosis OMIM:612247
Seckel Syndrome
Clinodactyly of the 5th finger, Abnormal earlobe morphology, Sandal gap, Cachexia, Absent earlobe... ORPHA:808
Cole-Carpenter Syndrome 2
Osteopenia, Lambdoidal craniosynostosis, Turricephaly, Narrow iliac wing, Coronal craniosynostosi... OMIM:616294
8Q22.1 Microdeletion Syndrome
Sandal gap, Finger syndactyly, Abnormal antihelix morphology, Abnormal pinna morphology, Low-set ... ORPHA:178303
Otosclerosis 8
Hearing impairment, Otosclerosis OMIM:612096
Otosclerosis 3
Hearing impairment, Otosclerosis OMIM:608244
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Popliteal pterygium, Tarsal synostosis, Multiple pterygia, Elbow flexion contracture, Low-set ear... OMIM:178110
Frontoocular Syndrome
Low-set ears, Trigonocephaly, Posteriorly rotated ears, Coronal craniosynostosis OMIM:605321
Attrv30M Amyloidosis
Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia ORPHA:85447
Branchiootic Syndrome 1
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Cochlear malf... OMIM:602588
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Brachycephaly, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Low-set ears, Coxa vara, Radio... OMIM:614701
19P13.12 Microdeletion Syndrome
Brachycephaly, Clinodactyly of the 5th finger, Sandal gap, Finger syndactyly, Sensorineural heari... ORPHA:254346
Craniotelencephalic Dysplasia
Craniosynostosis, Optic nerve hypoplasia OMIM:218670
Arthrogryposis, Distal, Type 2A
Rocker bottom foot, Joint contracture of the hand, Flexion contracture of toe, Spina bifida occul... OMIM:193700
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Coffin-Siris Syndrome 7
Recurrent otitis media, Clinodactyly of the 5th finger, Low-set ears, Hearing impairment, Macroti... OMIM:618027
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Anemia, Hypertrophic cardiomyopathy, Cardiomegaly, Atri... OMIM:620135
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Brachycephaly, Plagiocephaly, Ulnar deviation of the wrist, Unilambdoid synostosis, Clinodactyly OMIM:618577
Crouzon Syndrome
Brachycephaly, Optic atrophy, Lambdoidal craniosynostosis, Atresia of the external auditory canal... OMIM:123500
Curry-Jones Syndrome
Craniosynostosis, Finger syndactyly, Broad thumb, Foot polydactyly, Abnormality of thumb phalanx,... ORPHA:1553
Apert Syndrome
Chronic otitis media, Limited elbow movement, Brachyturricephaly, Broad thumb, Syndactyly, Cranio... OMIM:101200
Osteogenesis Imperfecta, Type Iv
Reduced bone mineral density, Femoral bowing present at birth, straightening with time, Otosclero... OMIM:166220
Prognathism, Mandibular
Craniosynostosis OMIM:176700
3Q29 Microduplication Syndrome
Large fontanelles, Sandal gap, Craniosynostosis, Low-set ears, Biparietal narrowing, Camptodactyl... ORPHA:251038
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Multiple joint dislocation, Sandal gap, Enlarged metaphyses, Dislocated radial head, Microtia, Ge... OMIM:245600
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Bidirectional shunt, Muscular ven... ORPHA:439
Arterial Calcification, Generalized, Of Infancy, 2
Congestive heart failure, Reduced left ventricular ejection fraction, Sinus tachycardia, Hyperten... OMIM:614473
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Congestive heart failure, Fourth heart sound, Left atrial enl... ORPHA:57777
Frontometaphyseal Dysplasia 1
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Sensorineural he... OMIM:305620
Trigonocephaly 1
Trigonocephaly, Craniosynostosis, Metopic synostosis OMIM:190440
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Hypsarrhythmia, Craniosynostosis, Flexion contracture, Optic disc pallor OMIM:619076
Chromosome 10Q26 Deletion Syndrome
Limited elbow extension, 2-3 toe cutaneous syndactyly, Radial deviation of finger, Clinodactyly o... OMIM:609625
Multiple Synostoses Syndrome 4
Overlapping toe, Tarsal synostosis, Otosclerosis, Brachydactyly OMIM:617898
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Rocker bottom foot, Small for gestational age, Metopic synostosis, Optic nerve hypoplasia, Postax... OMIM:301056
Frontometaphyseal Dysplasia
Limited elbow movement, Mixed hearing impairment, Limitation of knee mobility, Dislocated radial ... ORPHA:1826
Osteogenesis Imperfecta, Type I
Osteopenia, Otosclerosis, Wormian bones, Femoral bowing, Hearing impairment, Hip dysplasia, Joint... OMIM:166200
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypoplasia of the ulna, Osteopenia, Brachycephaly, Lambdoidal craniosynostosis, Large for gestati... OMIM:615398
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormality of pattern visual evoked potentials, Low-set ears, Short metacarpal, Macrotia, Fronta... ORPHA:166035
Pycnodysostosis
Short finger, Generalized osteosclerosis, Increased bone mineral density, Hypoplastic iliac wing,... ORPHA:763
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Joint hypermobility, Craniosynostosis OMIM:618906
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Polyarticular arthritis, ... ORPHA:289176
Enlarged Parietal Foramina
Broad thumb, Short clavicles, Parietal foramina, Craniosynostosis ORPHA:60015
Shprintzen-Goldberg Syndrome
Abnormal metaphysis morphology, Osteopenia, Genu valgum, Joint hypermobility, Low-set ears, Bowin... ORPHA:2462
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Osteopenia, Joint dislocation, Flared metaphysis, Dislocated radial head, Short clavicles, Absent... OMIM:130070
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Infantile Sialic Acid Storage Disease
Congestive heart failure, Hepatomegaly, Vacuolated lymphocytes, Ascites, Splenomegaly, Cardiomegaly OMIM:269920
Cole-Carpenter Syndrome 1
Osteopenia, Reduced bone mineral density, Coronal craniosynostosis, Frontal bossing, Orbital cran... OMIM:112240
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities
Optic atrophy, Craniosynostosis, Low-set ears OMIM:620428
Fg Syndrome Type 1
Abnormal thumb morphology, Generalized joint hypermobility, Plagiocephaly, Clinodactyly of the 2n... ORPHA:93932
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Hammertoe, Abnormal cranial nerve mor... OMIM:601596
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Brachycephaly, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Coxa valga,... OMIM:109120
Corpus Callosum Agenesis-Neuronopathy Syndrome
Craniosynostosis, EEG abnormality, Turricephaly ORPHA:1496
Osteoglophonic Dysplasia
Short metacarpal, Broad metatarsal, Broad thumb, Craniosynostosis, Cloverleaf skull, Short palm, ... OMIM:166250
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Genu valgum, Dislocated radial head, Wide anterior fontanel, Abnormal pinna morpholog... OMIM:182212
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Van Den Ende-Gupta Syndrome
Dislocated radial head, Small earlobe, Femoral bowing, Arachnodactyly, Slender metacarpals, Crani... OMIM:600920
Microcephaly-Micromelia Syndrome
Oligodactyly, Low-set ears, Forearm undergrowth, Humeroradial synostosis, Neonatal death, Absent ... OMIM:251230
Pfeiffer Syndrome
3-4 toe cutaneous syndactyly, Shortening of all middle phalanges of the fingers, Finger syndactyl... OMIM:101600
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Brachycephaly, Mild hearing impairment, Low-set ears, Camptodactyly, Trigonocephaly, Sagittal cra... ORPHA:459061
Carnitine Deficiency, Systemic Primary
Congestive heart failure, Hepatomegaly, Microvesicular hepatic steatosis, Reduced muscle carnitin... OMIM:212140
3Mc Syndrome
Caudal appendage, Spina bifida occulta, Abnormal pinna morphology, Low-set ears, Hearing impairme... ORPHA:293843
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Splenomega... OMIM:256550
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Low-set ears, Short metacarpal, Macrotia, Frontal bossing, Metaphyseal dysplasia, Metaphyseal cho... OMIM:250410
Proximal 16P11.2 Microdeletion Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Hand polydactyly, Failure to thr... ORPHA:261197
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Macrovesicular hepatic steatosis, Cardiomegaly, Ventricular tachycardia, Dilated ca... OMIM:600649
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Broad finger, Abnormal auditory evoked potentials, Optic... OMIM:617523
Holoprosencephaly-Craniosynostosis Syndrome
Brachycephaly, Plagiocephaly, Clinodactyly of the 5th finger, Brachydactyly, Short distal phalanx... ORPHA:2163
Complete Atrioventricular Septal Defect
Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car... ORPHA:1329
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Mixed hearing impairment, Multiple joint dislocation, Arachnodactyly, Slender long bones with nar... ORPHA:536467
Schinzel-Giedion Syndrome
Stiff elbow, Tibial bowing, Short distal phalanx of finger, Overlapping toe, Aganglionic megacolo... ORPHA:798
Aorta Coarctation
Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Aortic valve at... ORPHA:1457
Distal Triplication 15Q
Large for gestational age, Sensorineural hearing impairment, Abnormal helix morphology, Microtia,... ORPHA:314588
Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome
Craniosynostosis, Tracheomalacia, Small earlobe, Low-set ears, Hearing impairment, Failure to thr... ORPHA:412069
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia OMIM:619170
Timothy Syndrome
Prolonged QT interval, Cardiomegaly, Bradycardia, Patent foramen ovale, Pulmonary arterial hypert... OMIM:601005
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Rocker bottom foot, Sandal gap, Bicoronal synostosis, 2-3 toe syndactyly, Low-set ears, Hearing i... OMIM:619951
Deafness, Autosomal Dominant 9
Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment, Vertigo... OMIM:601369
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Tricuspid regurgitation, Patent ductus arteriosus, Cardiomegaly, Atrial sep... OMIM:618652
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Deafness, Autosomal Dominant 80
Cochlear aplasia, Abnormal semicircular canal morphology, Dilated vestibule of the inner ear, Con... OMIM:619274
Hemochromatosis, Type 1
Congestive heart failure, Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Cardiomyopathy, Asci... OMIM:235200
Xq21 Microdeletion Syndrome
Optic atrophy, Sensorineural hearing impairment, Abnormal cochlea morphology, Bilateral sensorine... ORPHA:1435
Hamamy Syndrome
Osteopenia, Brachycephaly, Clinodactyly of the 5th finger, Short 2nd finger, Sensorineural hearin... OMIM:611174
Meier-Gorlin Syndrome 7
Copper beaten skull, Joint hypermobility, Dislocated radial head, Wide anterior fontanel, 2-3 toe... OMIM:617063
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Brachycephaly, Low-set ears, Coronal craniosynostosis, Frontal bossing, Calvarial skull defect ORPHA:228390
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Skeletal muscle hypertrophy, Ventricular hypertrophy, Cardiomyopathy, Hy... OMIM:300280
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Rocker bottom foot, Turricephaly, Abnormal earlobe morphology, Proximal tibial and fibular fusion... ORPHA:95699
Congenital Toxoplasmosis
Jaundice, Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Thrombocytopenia, Cardiomegaly ORPHA:858
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Trigonocephaly, Low-set ears, Sagittal craniosynostosis, Scaphocephaly OMIM:616901
Usher Syndrome Type 3
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology ORPHA:231183
Mucolipidosis Ii Alpha/Beta
Short long bone, Flat acetabular roof, Flared iliac wing, Trigonocephaly, Bullet-shaped phalanges... OMIM:252500
Pendred Syndrome
Congenital sensorineural hearing impairment, Abnormal vestibular function, Cochlear malformation OMIM:274600
Mosaic Variegated Aneuploidy Syndrome 2
Clinodactyly of the 5th finger, Low-set ears, Round ear, Hearing impairment, Frontal bossing, Dol... OMIM:614114
Spondylodysplastic Ehlers-Danlos Syndrome
Subluxation of the small joints of the hand, Abnormal femoral head morphology, Abnormal finger mo... ORPHA:536471
Lowry-Maclean Syndrome
Osteopenia, Widely patent coronal suture, Low-set ears, Osteoporosis, Trigonocephaly, Small anter... ORPHA:2409
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Reduced left ventricular ejection fraction, Periportal fibrosis, Hypertrophic cardi... OMIM:201475
Slc39A8-Cdg
Osteopenia, Hypsarrhythmia, Elbow flexion contracture, Low-set ears, Hearing impairment, Failure ... ORPHA:468699
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Brachycephaly, Plagiocephaly, Tarsal synostosis, Wide anterior fontanel, Parietal foramina, Delay... ORPHA:85199
Gorlin-Chaudhry-Moss Syndrome
Brachycephaly, Abnormal metacarpal morphology, Coronal craniosynostosis, Conductive hearing impai... ORPHA:2095
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Aplasia/Hypoplasia of the inner ear, Sensorineural hearing impairment, ... ORPHA:50815
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Ear-Patella-Short Stature Syndrome
Clinodactyly of the 5th finger, Craniosynostosis, Slender long bone, Microtia, third degree, Low-... ORPHA:2554
Distal Duplication 5Q
Hypoplasia of the ulna, Hypoplasia of the radius, Low-set ears, Macrotia, Absent thumb, Brachydac... ORPHA:96097
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Cardiomegaly, Paroxysmal ventricular ... OMIM:601214
Saethre-Chotzen Syndrome
Parietal foramina, Microtia, Partial duplication of the distal phalanx of the 2nd finger, Partial... OMIM:101400
Baller-Gerold Syndrome
Limited elbow movement, Mixed hearing impairment, Turricephaly, Carpal bone aplasia, Optic nerve ... OMIM:218600
Aymé-Gripp Syndrome
Rocker bottom foot, Brachycephaly, Large fontanelles, Plagiocephaly, Clinodactyly of the 5th fing... ORPHA:1272
15Q Overgrowth Syndrome
Mixed hearing impairment, Turricephaly, Clinodactyly of the 5th finger, Low-set, posteriorly rota... ORPHA:314585
Mucolipidosis Type Ii
Abnormal long bone morphology, Sensorineural hearing impairment, Limited wrist movement, Limitati... ORPHA:576
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Chronic otitis media, Osteopenia, Joint hypermobility, Craniosynostosis, Recurrent fractures, Ost... ORPHA:2314
Marshall-Smith Syndrome
Prominent occiput, Optic nerve hypoplasia, Prominent fingertip pads, Short distal phalanx of fing... OMIM:602535
Trisomy 10P
Small for gestational age, EEG with burst suppression, Low voltage EEG, EEG with focal spikes, Th... ORPHA:171929
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Reduced left ventricular ejection fraction, Calf muscle ... ORPHA:268
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Failure to thrive, Delayed brainstem auditory evoked response conduction time, Joi... OMIM:616881
Roberts Syndrome
Radial deviation of finger, Proximal placement of thumb, Sandal gap, Abnormal pinna morphology, W... ORPHA:3103
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Hearing impairment, Osteoporosis, Osteopenia OMIM:615269
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Hepatomegaly, Cardiomegaly, Reduced left ventricular ejection fra... ORPHA:1677
Usher Syndrome Type 1
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology ORPHA:231169
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly, Pulmonary arterial hypertension OMIM:619064
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Pulmonary... OMIM:620642
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Optic atrophy, Plagiocephaly, Low-set, posteriorly rotated ears, Brachydactyly, Craniosynostosis ORPHA:457193
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Optic atrophy, Turricephaly, Hearing abnormality, Aplasia/Hypoplasia of the earlobes, Cloverleaf ... ORPHA:1555
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Irregular epiphyses, Optic disc pallor, Abnormal auditory evoke... OMIM:619260
Refsum Disease, Classic
Congestive heart failure, Cardiomyopathy, Limb muscle weakness, Arrhythmia, Cardiomegaly OMIM:266500
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Congestive heart failure, Atrial flutter, Abnormal atrioventricular valve morphology, Tricuspid r... ORPHA:324410
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Intellectual Developmental Disorder, Autosomal Dominant 57
Contracture of the proximal interphalangeal joint of the 4th finger, Joint hypermobility, Failure... OMIM:618050
3Mc Syndrome 1
Caudal appendage, Lambdoidal craniosynostosis, Clinodactyly of the 5th finger, Spina bifida occul... OMIM:257920
Combined Oxidative Phosphorylation Deficiency 10
Bradycardia, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly OMIM:614702
Mucolipidosis Iii Alpha/Beta
Carpal bone hypoplasia, Short long bone, Split hand, Limitation of joint mobility, Irregular carp... OMIM:252600
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Enlarged kidney, Myopathy, Bradycardia, ST segment elevation, Cardiomyo... OMIM:261740
9Q21.13 Microdeletion Syndrome
Polydactyly, Craniosynostosis, Hip dysplasia ORPHA:531151
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalanges of the hand, Trigonocephal... OMIM:266920
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Distal arthrogryposis, Arrhythmia, Cardiomegaly, Hepatic s... ORPHA:42
Sickle Cell Disease
Jaundice, Hepatomegaly, Cholelithiasis, Hypertension, Leukocytosis, Splenic infarction, Target ce... OMIM:603903
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy OMIM:252920
Musculocontractural Ehlers-Danlos Syndrome
Large fontanelles, Low-set, posteriorly rotated ears, Recurrent joint dislocation, Abnormal pinna... ORPHA:2953
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Pulmonary arterial... OMIM:619051
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Brachycephaly, EEG with spike-wave complexes, Slender long bone, Upper limb undergrow... ORPHA:369837
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Plagiocephaly, Aganglionic megacolon, Hearing impairment, Shortening of all distal phalanges of t... OMIM:614749
Hypomandibular Faciocranial Dysostosis
Brachycephaly, Low-set ears, Trigonocephaly, Optic disc coloboma, Craniosynostosis ORPHA:1790
Alpha-Mannosidosis, Infantile Form
Osteopenia, Cranial hyperostosis, Mixed hearing impairment, Genu valgum, Brachycephaly, Talipes v... ORPHA:309282
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response conduction ... OMIM:610532
Mulibrey Nanism
Congestive heart failure, Hepatomegaly, Ascites, Pericardial constriction, Myocardial fibrosis, C... OMIM:253250
Polycythemia Vera
Gastrointestinal hemorrhage, Increased red blood cell mass, Budd-Chiari syndrome, Cerebral ischem... OMIM:263300
Dubowitz Syndrome
Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Sandal gap, Aplasia/Hypoplasia... ORPHA:235
Pseudoaminopterin Syndrome
Clinodactyly of the 5th toe, Limited elbow movement, Hypoplasia of the antihelix, Overlapping toe... ORPHA:221120
Tropical Endomyocardial Fibrosis
Left atrial enlargement, P pulmonale, Abnormal ST segment, Ascites, Splenomegaly, Prolonged QRS c... ORPHA:75565
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Clinodactyly of the 5th finger, Spina bifida occulta, Joint hypermobility, Craniosynostosis, Lop ... OMIM:300707
Scarf Syndrome
Joint hypermobility, Short sternum, Low-set, posteriorly rotated ears, Craniosynostosis ORPHA:3134
Autosomal Recessive Malignant Osteopetrosis
Abnormal metaphysis morphology, Osteopetrosis, Reduced bone mineral density, Optic nerve compress... ORPHA:667
Au-Kline Syndrome
Plagiocephaly, Clinodactyly of the 5th finger, Craniosynostosis, Sensorineural hearing impairment... OMIM:616580
Otosclerosis 10
Otosclerosis OMIM:615589
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Osteopenia, Plagiocephaly, Abnormal helix morphology, Abnormal autonomic nervous system physiolog... ORPHA:453499
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Stillbirth, Fibular hypoplasia, Preaxial polydactyly, Unicoronal sy... OMIM:616300
Pseudo-Torch Syndrome 3
Anemia, Hypertension, Leukocytosis, Lymphadenitis, Cerebral hemorrhage, Cardiomegaly, Congenital ... OMIM:618886
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Narrow greater sciatic notch, Limited elbow movement, Acetabular dysplasia, Broad phalanges of th... ORPHA:508533
Hypomandibular Faciocranial Dysostosis
Coronal craniosynostosis, Optic disc coloboma OMIM:241310
Nablus Mask-Like Facial Syndrome
Sandal gap, Short hallux, Small earlobe, Overfolded helix, Low-set ears, Camptodactyly, Frontal b... OMIM:608156
Glycogen Storage Disease Ii
Increased muscle glycogen content, Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis devia... OMIM:232300
Choanal Atresia
Polydactyly, Craniosynostosis, Tracheomalacia ORPHA:137914
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Heart murmur, Cardiomegaly, Diffuse alv... ORPHA:99931
Mullegama-Klein-Martinez Syndrome
Polydactyly, Absent stapes, Clinodactyly of the 5th finger, Sensorineural hearing impairment, Mic... OMIM:301022
Tatton-Brown-Rahman Syndrome
Talipes valgus, Optic nerve hypoplasia, Sagittal craniosynostosis, Patellar subluxation OMIM:615879
3Mc Syndrome 2
Limited elbow movement, Caudal appendage, Hearing impairment, Radioulnar synostosis, Joint hyperm... OMIM:265050
Curry-Jones Syndrome
Unicoronal synostosis, Bicoronal synostosis, Triphalangeal hallux, Wormian bones, Broad thumb, Du... OMIM:601707
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Ankle flexion contracture, Severe failure to thrive, Low-set, posteriorly rotated ears, Knee flex... ORPHA:468631
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Joint contracture of the hand, Spina bifida occulta, Hypoplastic iliac wing, Sensorineural hearin... OMIM:235510
Familial Aortic Dissection
Cardiomegaly, Abnormal left ventricular function, Aortic regurgitation, Patent ductus arteriosus ORPHA:229
Long-Olsen-Distelmaier Syndrome
Congestive heart failure, Secundum atrial septal defect, Severely reduced left ventricular ejecti... OMIM:620609
Cerebrooculonasal Syndrome
Brachycephaly, Proboscis, Optic nerve hypoplasia, Postaxial hand polydactyly, Low-set ears, Posta... OMIM:605627
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Pancreatitis, Angina pectoris, Low-output congestive heart failure, Vacuolated lymp... ORPHA:565612
Scarf Syndrome
Lambdoidal craniosynostosis, Low-set ears, Coronal craniosynostosis, Short sternum, Posteriorly r... OMIM:312830
Cranioectodermal Dysplasia 3
Sandal gap, 2-3 toe syndactyly, Postaxial polydactyly, Frontal bossing, Dolichocephaly, 2-4 toe s... OMIM:614099
Pendred Syndrome
Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo, Enlarged vestibular aque... ORPHA:705
Cranioectodermal Dysplasia 1
Fibular hypoplasia, Radial deviation of finger, Protruding ear, Broad toe, Triphalangeal hallux, ... OMIM:218330
Teebi Hypertelorism Syndrome 1
Coronal craniosynostosis, Frontal bossing, Sagittal craniosynostosis, Small hand OMIM:145420
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Bicoronal synostosis, Tracheobronchomalacia, Short long bone, Joint stiffness, Short palm, Brachy... OMIM:619184
Frontonasal Dysplasia 2
Brachycephaly, Parietal foramina, Low-set ears, Anterior plagiocephaly, Craniosynostosis, Calvari... OMIM:613451
Beare-Stevenson Cutis Gyrata Syndrome
Limited elbow extension, Optic atrophy, Craniosynostosis, Cloverleaf skull, Atresia of the extern... OMIM:123790
Interatrial Communication
Congestive heart failure, Atrial septal defect, Atrial flutter, Sinus venosus atrial septal defec... ORPHA:1478
Cockayne Syndrome B
Optic atrophy, Square pelvis bone, Decreased nerve conduction velocity, Severe failure to thrive,... OMIM:133540
7Q11.23 Microduplication Syndrome
Chronic otitis media, Brachycephaly, Cubitus valgus, Abnormal earlobe morphology, Low-set, poster... ORPHA:96121
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Histiocytosis-Lymphadenopathy Plus Syndrome
Flexion contracture of toe, Joint contracture of the 5th finger, Pulmonic stenosis, Flexion contr... OMIM:602782
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Cardiomyopathy, Left ventricular hypertrophy, Cardiomegaly, Myopathy OMIM:617713
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Brachycephaly, Optic atrophy, Cupped ear, Craniosynostosis, Small for gestational age, Tapered fi... OMIM:309590
Acrocephalopolydactylous Dysplasia
Abnormal pinna morphology, Low-set ears, Postaxial hand polydactyly, Craniosynostosis, Oxycephaly OMIM:200995
Absence Of The Pulmonary Artery
Congestive heart failure, Abnormal hemidiaphragm morphology, Atrial flutter, Cardiomegaly, Reduce... ORPHA:980
Late-Infantile/Juvenile Krabbe Disease
Abnormality of visual evoked potentials, EEG with persistent abnormal rhythmic activity, Delayed ... ORPHA:206443
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Symptomatic Form Of Hfe-Related Hemochromatosis
Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated jugular venous pressure, Hepatocellul... ORPHA:465508
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Abnormal right ventricu... ORPHA:3427
Mend Syndrome
Wide anterior fontanel, 2-3 toe syndactyly, Abnormal auditory evoked potentials, Low-set ears, Fa... ORPHA:401973
Arterial Tortuosity Syndrome
Rocker bottom foot, Clinodactyly of the 5th finger, Coxa vara, Arachnodactyly, Macrotia, Hip dysp... ORPHA:3342
15q26 overgrowth syndrome
Sensorineural hearing impairment, Abnormal finger morphology, Abnormal pinna morphology, Low-set ... DECIPHER:81
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Left ventricular outflow tract obstruction, Low-output congestive... ORPHA:308552
Pediatric-Onset Graves Disease
Craniosynostosis, Failure to thrive, Small anterior fontanelle ORPHA:525731
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Brachycephaly, Large for gestational age, Recurrent otitis media, Craniosynostosis, Hyperextensib... OMIM:213980
Bor Syndrome
Stenosis of the external auditory canal, Abnormal pinna morphology, Facial palsy, Abnormality of ... ORPHA:107
Craniofrontonasal Syndrome
Brachycephaly, Axillary pterygium, Clinodactyly of the 5th finger, Coronal craniosynostosis, Fron... OMIM:304110
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Osteopenia, Lambdoidal craniosynostosis, Craniosynostosis, Sensorineural hearing impairment, Meto... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Osteopenia, Lambdoidal craniosynostosis, Craniosynostosis, Sensorineural hearing impairment, Meto... ORPHA:352665
Hyperlysinemia
Hypoplastic helices, EEG with spike-wave complexes, Failure to thrive, Hypoplasia of the antiheli... ORPHA:2203
Carpenter Syndrome 2
Sensorineural hearing impairment, Broad thumb, Trigonocephaly, Craniosynostosis, Camptodactyly, F... OMIM:614976
Cantu Syndrome
Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle, Patent duc... OMIM:239850
Say-Barber-Miller Syndrome
Optic atrophy, Patellar hypoplasia, Low-set, posteriorly rotated ears, Ankle clonus, Elbow flexio... ORPHA:3132
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Hepatosplenomegaly, Skeletal muscle atrophy, Cardiomegaly,... OMIM:268800
Branchiootorenal Syndrome 1
Mixed hearing impairment, Incomplete partition of the cochlea type II, Hypoplasia of the cochlea,... OMIM:113650
1P31P32 Microdeletion Syndrome
Craniosynostosis, Frontal bossing ORPHA:401986
Craniofaciofrontodigital Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aor... ORPHA:363705
Cerebrotendinous Xanthomatosis
Osteopenia, Optic atrophy, Abnormal femur morphology, Abnormal tibia morphology, Decreased nerve ... ORPHA:909
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Optic atrophy, Radial deviation of finger, Sandal gap, Joint hypermobility, Craniosynostosis, Low... OMIM:618164
Noonan Syndrome 3
Low-set ears, Sagittal craniosynostosis, Frontal bossing, Dolichocephaly, Posteriorly rotated ear... OMIM:609942
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Wide anterior fontanel, Sensorineural hearing impairment, Low-set ears, Sagittal cran... OMIM:610199
Cockayne Syndrome A
Optic atrophy, Square pelvis bone, Decreased nerve conduction velocity, Hypoplastic iliac wing, S... OMIM:216400
Arboleda-Tham Syndrome
Chronic otitis media, Sandal gap, Small earlobe, Underdeveloped tragus, Craniosynostosis, Promine... OMIM:616268
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Frontal bossing, Craniosynostosis ORPHA:1064
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Congestive heart failure, Increased hepatic glycogen content, Cardiomyopathy, Limb muscle weaknes... OMIM:619259
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Intrahepatic cholestasis, Cardiomegaly, Increased hepatic glycogen content, Pulmona... OMIM:614921
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hyperextensibility of the finger joints, Arachnodactyly, Long fingers, Craniosynostosis, Scaphoce... OMIM:616914
Paternal Uniparental Disomy Of Chromosome 1
Craniosynostosis, Obesity, Recurrent fractures ORPHA:251004
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Optic nerve hypoplasia, Low-set ears, Frontal bossing, Failure to thrive, Posteriorly rotated ear... OMIM:617506
Koolen-De Vries Syndrome Due To A Point Mutation
Optic atrophy, Recurrent otitis media, Craniosynostosis, Tracheomalacia, Joint dislocation, Inter... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Optic atrophy, Recurrent otitis media, Craniosynostosis, Tracheomalacia, Joint dislocation, Inter... ORPHA:363958
Trichothiodystrophy
Osteopenia, Joint dislocation, Increased bone mineral density, Clubbing, Bilateral sensorineural ... ORPHA:33364
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia OMIM:618838
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microtia, Delayed cranial suture closure, Low-set ears, Frontal bossing, Hip dysplasia, Craniosyn... OMIM:620005
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp... OMIM:306955
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Congestive heart failure, Aortic regurgitation, Cardiomegaly, Tricuspid regurgitation, Premature ... OMIM:620066
Generalized Arterial Calcification Of Infancy
Stippled calcification of the elbow, Mixed hearing impairment, Hypophosphatemic rickets, Fused ce... ORPHA:51608
Cranioectodermal Dysplasia 2
Polydactyly, Plagiocephaly, Cloverleaf skull, Metopic synostosis, Postaxial hand polydactyly, Low... OMIM:613610
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Recurrent otitis media, Fused cervical vertebrae, Low-set ears, Short foot, Fu... OMIM:157800
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic nerve hypoplasia, Ab... ORPHA:101085
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Cockayne Syndrome Type 1
Optic atrophy, Foot joint contracture, Absent brainstem auditory responses, Hearing impairment, M... ORPHA:90321
Arterial Calcification, Generalized, Of Infancy, 1
Congestive heart failure, Hypertension, Cardiomegaly, Dilated cardiomyopathy, Myocardial infarction OMIM:208000
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Bicoronal synostosis, Osteoporosis, Anterior plagiocephaly, Joint hypermobility OMIM:619718
Ctcf-Related Neurodevelopmental Disorder
Osteopenia, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Sandal gap, Joint ... ORPHA:363611
Mogs-Cdg
Optic atrophy, Prominent occiput, Sensorineural hearing impairment, Absent brainstem auditory res... ORPHA:79330
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly, Hepatic steatosis, Arrhythmia OMIM:255120
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Decreased nerve conduction velocity, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Fontaine Progeroid Syndrome
Brachycephaly, Turricephaly, Wide anterior fontanel, Absent distal phalanges, Low-set ears, Coron... OMIM:612289
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
17Q24.2 Microdeletion Syndrome
Recurrent otitis media, Cubitus valgus, Abnormality of the wrist, Upper limb undergrowth, Otoscle... ORPHA:529962
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Hypovolemic shock, Camptodactyly of toe, Impaired myocardial contractility, Cardi... ORPHA:158687
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ascites, Hypertrophic cardiomyopathy, Flexion contracture, Cardiomegaly, Ventricular septal defect OMIM:616897
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Vestibular areflexia, Absent brainstem auditory responses ORPHA:3240
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Lethal Congenital Contracture Syndrome 10
Torticollis, Hypoplasia of the thymus, Increased variability in muscle fiber diameter, Cardiomega... OMIM:617022
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Sensorineural hearing impairment, Abnormal auditory evoked potentials, A... ORPHA:99027
Hartsfield Syndrome
Hypoplasia of the frontal bone, Low-set ears, Ectrodactyly, Posteriorly rotated ears, Syndactyly,... OMIM:615465
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Hypertension, Pulmonary arterial hypertension OMIM:613320
Microphthalmia, Syndromic 6
Polydactyly, Brachycephaly, Plagiocephaly, Lambdoidal craniosynostosis, Clinodactyly of the 5th f... OMIM:607932
Zttk Syndrome
Optic atrophy, Craniosynostosis, Low-set ears, Frontal bossing, Failure to thrive, Flexion contra... OMIM:617140
Treacher Collins Syndrome 2
Fusion of middle ear ossicles, Conductive hearing impairment, Microtia, Anotia OMIM:613717
Degcags Syndrome
Polydactyly, Osteopenia, Plagiocephaly, Genu valgum, Unilateral conductive hearing impairment, Cr... OMIM:619488
Fucosidosis
Cardiomegaly, Hepatomegaly, Decreased muscle mass, Abnormality of the gallbladder ORPHA:349
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect, Facial hypotonia OMIM:618798
Opitz Gbbb Syndrome
Large fontanelles, Tracheomalacia, Low-set ears, Prominent metopic ridge, Hearing impairment, Pos... ORPHA:2745
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Hennekam Syndrome
Finger syndactyly, Abnormal pinna morphology, Low-set ears, Camptodactyly of finger, Conductive h... ORPHA:2136
Branchioskeletogenital Syndrome
Brachycephaly, Mixed hearing impairment, Attached earlobe, Upper limb peromelia, Amelia involving... ORPHA:1299
Gabriele-De Vries Syndrome
Sandal gap, Low-set ears, Dolichocephaly, Posteriorly rotated ears, Distal arthrogryposis, Cranio... ORPHA:506358
Roberts-Sc Phocomelia Syndrome
Radial deviation of finger, Abnormal pinna morphology, Wrist flexion contracture, Short humerus, ... OMIM:268300
22Q11.2 Deletion Syndrome
Chronic otitis media, Optic atrophy, Turricephaly, Aganglionic megacolon, Small earlobe, Arthriti... ORPHA:567
Peters-Plus Syndrome
Limited elbow movement, Square pelvis bone, Proximal placement of thumb, Short metacarpal, Syndac... OMIM:261540
Acrofacial Dysostosis, Cincinnati Type
Mild hearing impairment, Recurrent otitis media, Clinodactyly of the 5th finger, Pterygium, Flare... OMIM:616462
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Unilateral brachydactyly, Plagiocephaly, Syndactyly, Craniosynostosis ORPHA:1521
Truncus Arteriosus
Transposition of the great arteries, Aortic regurgitation, Cardiomegaly, Abnormal heart valve mor... ORPHA:3384
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hepatomegaly, Antenatal intracerebral hemorrhage, Macrovesicular hepatic steatos... OMIM:608836
Doors Syndrome
Brachycephaly, Optic atrophy, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Clinodactyly of... ORPHA:79500
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Heart block, Hepatomegaly, Cardiomyopathy, Abnormal myocardium... ORPHA:228308
Proteus Syndrome
Macrodactyly, Cranial hyperostosis, Abnormality of the wrist, Clinodactyly of the 5th finger, Abn... ORPHA:744
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Rocker bottom foot, Brachycephaly, Tarsal synostosis, Ulnar bowing, Cloverleaf skull, Femoral bow... OMIM:201750
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Hypoplasia of the musculature, Thenar muscle atrophy, Abnormal thymus morphology, Cardiomegaly, S... ORPHA:2463
Histiocytoid Cardiomyopathy
Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Cardiomegaly, Hepatomeg... ORPHA:137675
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly, Limb hypertonia, Tricuspid regurgitation OMIM:620306
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Patent ductus arteriosus ORPHA:1517
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Anemia, Ascites, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Cardiomegaly, ... OMIM:608013
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Fused cervical vertebrae, Low-set ears, Brachyturricephaly, Coronal craniosynostosis, Arachnodact... ORPHA:83617
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Ventricular hypertrophy... OMIM:618278
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic atrophy, Hyperextensible hand joints, Slender long bone, Metopic synostosis, Optic nerve hy... ORPHA:500150
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Dilated vestibule of the inner ear, Abnormal morphology of the ... OMIM:611584
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Plagiocephaly, Optic nerve hypoplasia, Microtia, Hearing impairment, Failure to thrive, Finger cl... OMIM:620455
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Aortic regurgitation, Cardiomegaly, Hypertension, Transient ischemic attack, Hyp... ORPHA:91387
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction OMIM:105210
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Craniosynostosis, Failure to thrive ORPHA:79396
Glycogen Storage Disease Due To Acid Maltase Deficiency
Glycogen accumulation in muscle fiber lysosomes, Hepatomegaly, Facial hypotonia, Left ventricular... ORPHA:365
Fucosidosis
Hepatomegaly, Vacuolated lymphocytes, Generalized amyotrophy, Splenomegaly, Flexion contracture, ... OMIM:230000
Congenital Total Pulmonary Venous Return Anomaly
Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter... ORPHA:99125
Mucopolysaccharidosis Type 2
Optic atrophy, Decreased nerve conduction velocity, Hip osteoarthritis, Flexion contracture of di... ORPHA:580
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia ORPHA:79280
Loeys-Dietz Syndrome 1
Craniosynostosis, Postaxial hand polydactyly, Low-set ears, Camptodactyly, Postaxial polydactyly,... OMIM:609192
Loeys-Dietz Syndrome 2
Absent distal phalanges, Camptodactyly, Osteoporosis, Postaxial polydactyly, Arachnodactyly, Prot... OMIM:610168
Mucopolysaccharidosis Type 3
Abnormal aortic valve morphology, Hepatomegaly, Cardiomegaly, Reduced left ventricular ejection f... ORPHA:581
Congenital Tracheomalacia
Partial anomalous pulmonary venous return, Pulmonary arterial hypertension, Abnormal heart morpho... ORPHA:95430
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Multiple joint contractures, Arthrogryposis multiplex congenita, Cardiomegaly, Macr... OMIM:618143
Abetalipoproteinemia
Congestive heart failure, Cirrhosis, Hepatomegaly, Anemia, Distal lower limb muscle weakness, Ret... ORPHA:14
Loeys-Dietz Syndrome 3
Osteopenia, Osteochondritis dissecans, Hip osteoarthritis, Intervertebral disk degeneration, Knee... OMIM:613795
Autoinflammatory Disease, Systemic, With Vasculitis
Small vessel vasculitis, Hepatomegaly, Jaundice, Anemia, Increased B cell count, Cholestasis, Inc... OMIM:620376
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomyopathy, Diastasis recti, Hepatoblastoma, Pancreatic hyperp... OMIM:130650
Loeys-Dietz Syndrome
Joint dislocation, Camptodactyly of finger, Arachnodactyly, Joint hypermobility, Craniosynostosis ORPHA:60030
Mucopolysaccharidosis Type 2, Severe Form
Diaphyseal undertubulation, Optic atrophy, Sensorineural hearing impairment, Otosclerosis, Arthri... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Diaphyseal undertubulation, Optic atrophy, Sensorineural hearing impairment, Otosclerosis, Arthri... ORPHA:217093
Bohring-Opitz Syndrome
Annular pancreas, Cholelithiasis, Bradycardia, Facial hypotonia, Bilateral wrist flexion contract... ORPHA:97297
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Patent ductus arteriosus, Cardiomegaly, Macroglossia ORPHA:96191
Proteasome-Associated Autoinflammatory Syndrome 1
Congestive heart failure, Hepatomegaly, Flexion contracture of toe, Lymphadenopathy, Elbow flexio... OMIM:256040
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Pancreatitis, Cardiomegaly, Limb hypertonia, Splenic cyst, Patent foramen ovale, Tricuspid regurg... OMIM:620371
Ogden Syndrome
Left atrial enlargement, Enlarged kidney, Premature ventricular contraction, Cardiomegaly, Bicusp... OMIM:300855
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, R... OMIM:300967
Sotos Syndrome
Chronic otitis media, Ankle flexion contracture, Aganglionic megacolon, Bilateral camptodactyly, ... ORPHA:821
Liver Disease, Severe Congenital
Left atrial enlargement, Lymphocytosis, Ascites, Biliary hyperplasia, Leukopenia, Splenomegaly, C... OMIM:619991
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Frontal bossing, Joint hypermobility, Craniosynostosis, Recurrent fractures OMIM:147060
Beckwith-Wiedemann Syndrome
Large for gestational age, Large fontanelles, Abnormal earlobe morphology, Prominent occiput, Wid... ORPHA:116
Branchiooculofacial Syndrome
Clinodactyly of the 5th finger, Proximal placement of thumb, Sensorineural hearing impairment, Mi... OMIM:113620
Aicardi-Goutières Syndrome
Chronic lymphatic leukemia, Myositis, Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomy... ORPHA:51
Aprosencephaly And Cerebellar Dysgenesis
Craniosynostosis OMIM:601374
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Genu valgum, Recurrent otitis media, Right unicoronal synostosis, Aganglionic megacolon, Hallux v... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Sensorineural hearing impairment, Arachnodactyly, Syndactyly, Adducted thumb, Long toe, EEG abnor... ORPHA:261552
Williams Syndrome
Hypertension, Cerebral ischemia, Pulmonic stenosis, Mitral valve prolapse, Cardiomegaly, Bicuspid... ORPHA:904
Leukocyte Adhesion Deficiency
Coronal craniosynostosis, Osteomyelitis, Otitis media ORPHA:2968
Singleton-Merten Syndrome 1
Congestive heart failure, Mitral valve calcification, Aortic valve stenosis, Tendon rupture, Musc... OMIM:182250
Norrie Disease
Optic atrophy, Sensorineural hearing impairment, Abnormal helix morphology, Abnormal cochlea morp... ORPHA:649
Yunis-Varon Syndrome
Hypertension, Cardiomyopathy, Pulmonary arterial hypertension, Renovascular hypertension, Tetralo... ORPHA:3472
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteopenia, Osteoporosis, Camptodactyly, Eunuchoid habitus, Congenital sensorineural hearing impa... ORPHA:432
Kallmann Syndrome
Sensorineural hearing impairment, Obesity, Reduced bone mineral density, Recurrent fractures 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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