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:
1300019I03Rik,  MKP3,  PYST1,  MKP-3

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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
Osteoporosis, Osteopenia, Hearing impairment OMIM:615269
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteoporosis, Generalized joint laxity, Camptodactyly, Osteopenia, Eunuchoid habitus, Congenital ... ORPHA:432
Kallmann Syndrome
Reduced bone mineral density, Sensorineural hearing impairment, Recurrent fractures, Obesity 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
Absence of acoustic reflex, Abnormal auditory evoked potentials, Sensorineural hearing impairment... OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Isolated Oxycephaly
Lambdoidal craniosynostosis, Oxycephaly, Sagittal craniosynostosis, Papilledema, Coronal craniosy... ORPHA:63440
Aurocephalosyndactyly
Hearing impairment, 4-5 toe syndactyly, Craniosynostosis OMIM:109050
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the middle ear ossicles, Abnormality of the malleus, Conductive hearing impairment... OMIM:128980
Craniosynostosis 1
Craniosynostosis, Oxycephaly, Dolichocephaly, Scaphocephaly, Turricephaly OMIM:123100
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy
Conductive hearing impairment, Abnormality of the stapes, Facial paralysis, External ear malforma... OMIM:124490
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the antihelix, Conductive hearing impairment, Hypoplasia of the antihelix, Aplasia... ORPHA:3232
Summitt Syndrome
Craniosynostosis, Syndactyly, Oxycephaly, Obesity OMIM:272350
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Thickened calvaria, Increased bone mineral density, Hearing impairment, Facial ... ORPHA:178377
Deafness, X-Linked 2
Progressive sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Mi... OMIM:304400
Craniosynostosis, Adelaide Type
Shortening of all distal phalanges of the fingers, Craniosynostosis, Cone-shaped epiphyses of the... OMIM:600593
Ethanolaminosis
Cardiomegaly OMIM:227150
Isolated Cloverleaf Skull Syndrome
Craniosynostosis, Finger syndactyly, Midface retrusion, Low-set, posteriorly rotated ears, Limita... ORPHA:2343
Craniosynostosis With Anomalies Of The Cranial Base And Digits
Craniosynostosis, Proximal placement of hallux, Preaxial foot polydactyly, Absent middle phalanx ... OMIM:218530
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome
Craniosynostosis, Sensorineural hearing impairment ORPHA:2866
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 2-3 toe syndactyly, 3-4 finger syndactyly, Sagittal craniosynostos... 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, Small anterior fontanelle, Low-set ears, Posteriorly rotated ears, P... OMIM:314320
Craniorhiny
Oxycephaly, Craniosynostosis, Turricephaly OMIM:123050
Craniosynostosis, Philadelphia Type
Craniosynostosis, Finger syndactyly ORPHA:1527
Symphalangism, Proximal, 1A
Aplasia/Hypoplasia of the middle phalanges of the hand, Tarsal synostosis, Distal symphalangism o... OMIM:185800
Symphalangism, Distal
Craniosynostosis, Distal symphalangism of hands, Distal foot symphalangism, Absent dorsal skin cr... OMIM:185700
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Craniosynostosis And Dental Anomalies
Craniosynostosis, Short phalanx of finger, Lambdoidal craniosynostosis, Sagittal craniosynostosis... OMIM:614188
Craniosynostosis 3
Craniosynostosis, Brachydactyly, Hallux valgus OMIM:615314
Stapes Ankylosis With Broad Thumbs And Toes
Broad thumb, Toe syndactyly, Stapes ankylosis, Conductive hearing impairment, Short distal phalan... OMIM:184460
Deafness-Hypogonadism Syndrome
Progressive sensorineural hearing impairment, Enlarged cochlear aqueduct, Abnormality of the midd... ORPHA:90646
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Metopic suture patent to nasal root, Low-set, posteriorly rotated ears, Small anterior fontanelle... ORPHA:3369
Craniosynostosis 7
Craniosynostosis OMIM:617439
Craniosynostosis 5, Susceptibility To
Craniosynostosis OMIM:615529
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Orbital craniosynostosis, Dolichocephaly, Optic atrophy, Frontal bossing ORPHA:1538
Kleeblattschaedel
Elbow ankylosis, Craniosynostosis, Cloverleaf skull OMIM:148800
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Abnormal Z disc mo... OMIM:618654
Summitt Syndrome
Genu valgum, Short 4th metacarpal, Camptodactyly of finger, Craniosynostosis, Finger syndactyly, ... ORPHA:3210
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Rickets, Hypophosphatemic rickets, Increased bone mineral density, Sensorineura... OMIM:241520
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Muenke Syndrome
Broad thumb, Midface retrusion, Short middle phalanx of finger, Recurrent otitis media, Capitate-... OMIM:602849
Ravine Syndrome
Failure to thrive, Abnormal auditory evoked potentials, Decreased body weight ORPHA:99852
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Broad thumb, 1-3 toe syndactyly, Camptodac... OMIM:175700
Chondrodysplasia With Joint Dislocations, Gpapp Type
Genu valgum, Short toe, Short foot, Hearing impairment, Short metacarpal, Patellar dislocation, B... OMIM:614078
Hydrocephalus, Autosomal Dominant
Sagittal craniosynostosis OMIM:123155
Craniosynostosis-Mental Retardation-Clefting Syndrome
Craniosynostosis, Forearm undergrowth, Lower limb undergrowth OMIM:218650
Jackson-Weiss Syndrome
Craniosynostosis, Short metatarsal, Hallux varus, Midface retrusion, Broad metatarsal, 2-3 toe sy... OMIM:123150
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Low-set ears, Craniosynostosis, Trigonocephaly, Scaphocephaly OMIM:616901
Coffin-Siris Syndrome 7
Macrotia, Recurrent otitis media, Low-set ears, Posteriorly rotated ears, Clinodactyly, Hearing i... OMIM:618027
Craniosynostosis 2
Unicoronal synostosis, Craniosynostosis, Frontal bossing, Trigonocephaly, Brachycephaly, Brachytu... OMIM:604757
Buschke-Ollendorff Syndrome
Craniosynostosis, Abnormality of epiphysis morphology, Flexion contracture, Flat occiput, General... ORPHA:1306
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Oligodactyly, Humeroradial synostosis, Craniosynostosis, Brachycephaly, Arachnodactyly OMIM:614416
Hypophosphatasia, Childhood
Craniosynostosis, Dolichocephaly, Bowing of the legs, Frontal bossing OMIM:241510
Congenital Disorder Of Glycosylation, Type Iin
Joint hypermobility, Hearing impairment, Craniosynostosis, Osteopenia OMIM:616721
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Toe syndactyly, Postaxial hand polydactyly, Broad thumb, Finger syndac... ORPHA:380
Craniosynostosis 6
Craniosynostosis, Plagiocephaly, Delayed cranial suture closure, Sensorineural hearing impairment... OMIM:616602
Cranioectodermal Dysplasia
Osteoporosis, Craniosynostosis, Frontal bossing, Finger syndactyly, Joint hyperflexibility, Short... ORPHA:1515
Fgfr2-Related Bent Bone Dysplasia
Steep acetabular roof, Incomplete ossification of pubis, Midface retrusion, Overfolding of the su... ORPHA:313855
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Craniosynostosis, Short phalanx of finger, Frontal bossing, Midface retrusio... OMIM:250215
Acrocraniofacial Dysostosis
Craniosynostosis, Broad thumb, Flared iliac wing, Short distal phalanx of finger, Sensorineural h... ORPHA:949
Craniofacial Dyssynostosis
Craniosynostosis, Frontal bossing, Low-set ears, Stenosis of the external auditory canal, Dolicho... ORPHA:1516
Carpenter Syndrome
Genu valgum, Postaxial hand polydactyly, Broad thumb, Toe syndactyly, Craniosynostosis, Finger sy... ORPHA:65759
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Lower limb undergrowth, Short lower limbs, Abs... OMIM:186500
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Craniosynostosis, Toe syndactyly, Radioulnar synostosis, Large fontanelles, Bowing of the long bo... ORPHA:171839
Acrocraniofacial Dysostosis
Craniosynostosis, Conductive hearing impairment, Oxycephaly, Short 1st metacarpal, Abnormality of... OMIM:201050
Osteopetrosis, Autosomal Recessive 1
Craniosynostosis, Frontal bossing, Femur fracture, Osteopetrosis, Facial paralysis, Increased bon... OMIM:259700
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Craniosynostosis, Frontal bossing, Macrotia, Low-set ears, Brachycephaly ORPHA:314575
Craniotelencephalic Dysplasia
Craniosynostosis, Frontal bossing, Low-set, posteriorly rotated ears, Septo-optic dysplasia, Opti... ORPHA:1528
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Arthrogryposis multiplex congenita, Craniosynostosis, Decreased body weight, Plagiocephaly, Trigo... OMIM:618265
Craniosynostosis, Herrmann-Opitz Type
Abnormality of the antihelix, Craniosynostosis, Finger syndactyly, Split hand, Brachycephaly, Tur... ORPHA:2145
Craniofrontonasal Dysplasia
Camptodactyly of finger, Craniosynostosis, Hand polydactyly, Frontal bossing, Finger syndactyly, ... ORPHA:1520
Au-Kline Syndrome
Hip dysplasia, Craniosynostosis, Overlapping toe, Postaxial polydactyly, Dolichocephaly, Microtia OMIM:616580
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Syncope, Myopathy, Hepatomegaly, Left bundle branc... OMIM:115197
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Delayed closure of the anterior fontanelle, Lambdoidal craniosynostosis, Flat occiput, Optic nerv... OMIM:618736
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Craniosynostosis, Overlapping toe, Short metacarpal, Low-set ears, Skull asymmetry, Small epiphys... OMIM:616723
Otosclerosis 7
Otosclerosis, Abnormality of the acoustic reflex, Conductive hearing impairment, Hearing impairme... OMIM:611572
Muenke Syndrome
Tarsal synostosis, Cone-shaped epiphysis, Short foot, Plagiocephaly, Sensorineural hearing impair... ORPHA:53271
Autosomal Recessive Omodysplasia
Hypoplastic distal humeri, Craniosynostosis, Frontal bossing, Elbow dislocation, Abnormality of t... ORPHA:93329
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Hepatomegaly, Endocardial fibrosis, Splenomegaly, Myeloproliferative ... OMIM:607685
Hypophosphatasia
Craniosynostosis, Large fontanelles, Bowing of the long bones, Recurrent fractures, Failure to th... ORPHA:436
Osteoglosphonic Dysplasia
Craniosynostosis, Abnormal bone ossification, Failure to thrive in infancy, Protruding ear, Brach... ORPHA:2645
Hunter-Mcalpine Craniosynostosis Syndrome
Craniosynostosis OMIM:601379
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Craniosynostosis, Recurrent otitis media, Hip dislocation, Joint contracture of the hand, Clubbin... OMIM:618523
Fibular Hemimelia
Hip subluxation, Craniosynostosis, Joint laxity, Bowing of the legs, Joint stiffness, Abnormality... ORPHA:93323
Pfeiffer Syndrome Type 1
Short hallux, Broad thumb, Toe syndactyly, Finger syndactyly, Hallux varus, Midface retrusion, Br... ORPHA:93258
Crouzon Disease
Narrow internal auditory canal, Frontal bossing, Conductive hearing impairment, Midface retrusion... ORPHA:207
Marshall-Smith Syndrome
Craniosynostosis, Conductive hearing impairment, Joint hyperflexibility, Bowing of the long bones... ORPHA:561
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
Sagittal craniosynostosis OMIM:218450
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Contractures of the large joints, Atrial flutter, Congestive heart failure, Cardiomegaly OMIM:300886
Acrocephalopolysyndactyly Type Iii
Preaxial hand polydactyly, Broad thumb, Craniosynostosis, Oxycephaly, Abnormality of the pinna, L... OMIM:101120
Danon Disease
EMG: myopathic abnormalities, Myocardial fibrosis, Myocardial necrosis, Arrhythmia, Wolff-Parkins... OMIM:300257
Cranioectodermal Dysplasia 4
Hip dysplasia, Broad distal phalanx of finger, Joint hypermobility, Frontal bossing, Short distal... OMIM:614378
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial pa... OMIM:617519
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Flared iliac wing, Camptodactyly, Metatarsus adductus, Sensorineural... OMIM:201000
Mental Retardation, Autosomal Dominant 57
Posteriorly rotated ears, Joint hypermobility, Craniosynostosis, Otitis media OMIM:618050
Holoprosencephaly, Semilobar, With Craniosynostosis
Lambdoidal craniosynostosis, Coxa valga, Coronal craniosynostosis, Short distal phalanx of finger OMIM:601370
Hartsfield Syndrome
Low-set, posteriorly rotated ears, Split hand, Craniosynostosis, Aplasia/Hypoplasia of the radius ORPHA:2117
Saethre-Chotzen Syndrome
Abnormality of the antihelix, Craniosynostosis, Broad thumb, Narrow internal auditory canal, Sens... ORPHA:794
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Craniosynostosis, Carpal bone hypoplasia, Flattened femoral head, Tibial metaphyseal irregularity... ORPHA:457395
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Gorham-Stout Disease
Osteolysis, Abnormal bone ossification, Abnormality of finger, Patchy reduction of bone mineral d... ORPHA:73
X-Linked Intellectual Disability, Cilliers Type
Macrotia, Small hand, Failure to thrive, Coronal craniosynostosis, Clinodactyly of the 5th finger ORPHA:163971
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Rocker bottom foot, Humeroradial synostosis, Wide anterior fontanel, Lambdoidal craniosynostosis,... OMIM:207410
Antley-Bixler Syndrome
Camptodactyly of finger, Craniosynostosis, Frontal bossing, Low-set, posteriorly rotated ears, Re... ORPHA:83
Trichothiodystrophy 6, Nonphotosensitive
Small for gestational age, Coxa valga, Coronal craniosynostosis, Bilateral sensorineural hearing ... OMIM:616943
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis, Obesity ORPHA:88643
X-Linked Hypophosphatemia
Craniosynostosis, Flared iliac wing, Generalized osteosclerosis, Bowing of the legs, Sensorineura... ORPHA:89936
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Prolonged QT interval, Cardiomegaly, Tricuspid regurgitation OMIM:618052
X-Linked Intellectual Disability, Van Esch Type
Failure to thrive, Clinodactyly of the 5th finger, Microtia, Coronal craniosynostosis ORPHA:163976
16P13.11 Microduplication Syndrome
Craniosynostosis, Hand polydactyly, Joint hyperflexibility, Dolichocephaly, Arachnodactyly ORPHA:261243
Crouzon Syndrome With Acanthosis Nigricans
Midface retrusion, Craniosynostosis, Brachycephaly OMIM:612247
Gomez-Lopez-Hernandez Syndrome
Wormian bones, Craniosynostosis, Wide anterior fontanel, Midface retrusion, Low-set ears, Posteri... OMIM:601853
Trimethylaminuria
Neutropenia, Hypertension, Tachycardia, Anemia, Splenomegaly OMIM:602079
Macrocephaly-Developmental Delay Syndrome
Craniosynostosis, Frontal bossing, EEG with generalized slow activity, Abnormal speech discrimina... ORPHA:397612
Cardiocranial Syndrome, Pfeiffer Type
Cutaneous syndactyly of toes, Low-set, posteriorly rotated ears, Plantar flexion contractures, Lo... ORPHA:2872
Hypophosphatasia, Infantile
Craniosynostosis, Stillbirth, Decreased calvarial ossification, Metaphyseal cupping, Bowing of th... OMIM:241500
Cdags Syndrome
Lambdoidal craniosynostosis, Frontal bossing, Midface retrusion, Parietal foramina, Sagittal cran... OMIM:603116
Craniosynostosis With Fibular Aplasia
Craniosynostosis, Fibular aplasia OMIM:218550
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Craniosynostosis OMIM:225755
Adducted Thumbs Syndrome
Arthrogryposis multiplex congenita, Craniosynostosis OMIM:201550
Chromosome 5P13 Duplication Syndrome
Craniosynostosis, Frontal bossing, Low-set ears, Small for gestational age, Brachycephaly, Turric... OMIM:613174
Familial Atrial Myxoma
Cardiac myxoma, Cholestasis, Tricuspid regurgitation, Jaundice, Pulmonic valve myxoma, Congestive... ORPHA:615
Lowry-Maclean Syndrome
Craniosynostosis OMIM:600252
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Multiple pterygia, Craniosynostosis, Tarsal synostosis, Arthrogryposis multiplex congenita, Low-s... OMIM:178110
Bent Bone Dysplasia Syndrome
Midface retrusion, Low-set ears, Short clavicles, Coronal craniosynostosis, Brachydactyly OMIM:614592
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Craniosynostosis, Short phalanx of finger, Frontal bossing, Cone-shaped epiphysis, Trigonocephaly... OMIM:266920
Deafness, Autosomal Recessive 109
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Slc35A2-Cdg
Camptodactyly of finger, Abnormality of long bone morphology, Hip subluxation, Joint hypermobilit... ORPHA:356961
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Craniosynostosis OMIM:608432
Distal Monosomy 10Q
Craniosynostosis, Short metatarsal, Sandal gap, Spina bifida occulta, Prominent fingertip pads, H... ORPHA:96148
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Seckel Syndrome
Hip dysplasia, Craniosynostosis, Joint hyperflexibility, Cone-shaped epiphysis, Sandal gap, Cache... ORPHA:808
Crouzon Syndrome
Lambdoidal craniosynostosis, Frontal bossing, Conductive hearing impairment, Atresia of the exter... OMIM:123500
Larsen Syndrome
Broad distal phalanx of finger, Craniosynostosis, Broad thumb, Accessory carpal bones, Abnormalit... ORPHA:503
Branchiootic Syndrome 1
Hypoplasia of the cochlea, Cochlear malformation, Low-set ears, Cupped ear, Sensorineural hearing... OMIM:602588
Trigonocephaly 1
Craniosynostosis, Trigonocephaly OMIM:190440
Arthrogryposis, Distal, Type 2A
Rocker bottom foot, Restricted neck movement due to contractures, Flexion contracture of finger, ... OMIM:193700
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic atrophy OMIM:125250
8Q22.1 Microdeletion Syndrome
Camptodactyly of finger, Abnormality of the antihelix, Craniosynostosis, Finger syndactyly, Abnor... ORPHA:178303
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Craniosynostosis, Failure to thrive in infancy, EEG with polyspike wave complexes, Knee flexion c... ORPHA:284417
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Joint hypermobility, Craniosynostosis, Frontal bossing, Recurrent fractures, Osteopenia OMIM:147060
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduction velocity OMIM:601455
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate production, Anemia, Sp... OMIM:613673
Carnitine Deficiency, Systemic Primary
Reduced muscle carnitine level, Endocardial fibroelastosis, Hepatic steatosis, Decreased carnitin... OMIM:212140
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Congestive heart failure, Anemia, Splenomegaly, Cardiomyopathy OMIM:613313
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Myopathy, Cardiomyopathy OMIM:617713
Cole-Carpenter Syndrome 2
Wormian bones, Lambdoidal craniosynostosis, Frontal bossing, Midface retrusion, Narrow iliac wing... OMIM:616294
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Wormian bones, Recurrent fractures, Reduced bone mineral density, Hearing impairmen... OMIM:166220
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomegaly, Cardiomyopathy ORPHA:85447
Frontoocular Syndrome
Low-set ears, Posteriorly rotated ears, Trigonocephaly, Coronal craniosynostosis OMIM:605321
Chromosome 10Q26 Deletion Syndrome
Limited elbow extension, Craniosynostosis, Toe syndactyly, Frontal bossing, Radial deviation of f... OMIM:609625
Craniosynostosis 4
Posterior plagiocephaly, Pansynostosis, Lambdoidal craniosynostosis, Frontal bossing, Anterior pl... OMIM:600775
Hamamy Syndrome
Hip dysplasia, Craniosynostosis, Down-sloping shoulders, Abnormality of the outer ear, Low-set ea... OMIM:611174
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Midface retrusion, Unilambdoid synostosis, Plagiocephaly, Ulnar deviation of the wrist, Clinodact... OMIM:618577
Multiple Synostoses Syndrome 4
Otosclerosis, Brachydactyly, Tarsal synostosis, Overlapping toe OMIM:617898
3Q29 Microduplication Syndrome
Craniosynostosis, Toe syndactyly, Biparietal narrowing, Large fontanelles, Camptodactyly of toe, ... ORPHA:251038
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Biventricular hypertrophy, Congestive heart failure, Shortened PR inte... OMIM:261740
Osteoglophonic Dysplasia
Craniosynostosis, Short metatarsal, Short phalanx of finger, Frontal bossing, Midface retrusion, ... OMIM:166250
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Abnormal trabecular bone morphology, Polyarticular arthritis, Hypophosphatemic ... ORPHA:289176
19P13.12 Microdeletion Syndrome
Craniosynostosis, Arthrogryposis multiplex congenita, Finger syndactyly, Conductive hearing impai... ORPHA:254346
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Joint hypermobility, Craniosynostosis, Low-set ears, Hearing impairment, Microtia, Obesity OMIM:619056
Meier-Gorlin Syndrome 7
Craniosynostosis, Wide anterior fontanel, Joint laxity, Preaxial polydactyly, 2-3 toe syndactyly,... OMIM:617063
Prognathism, Mandibular
Craniosynostosis OMIM:176700
Van Den Ende-Gupta Syndrome
Distal ulnar hypoplasia, Dislocated radial head, Craniosynostosis, Camptodactyly of toe, Slender ... OMIM:600920
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Brachycephaly, Hip disloca... OMIM:109120
Frontometaphyseal Dysplasia
Limited wrist movement, Craniosynostosis, Broad thumb, Short metatarsal, Short phalanx of finger,... ORPHA:1826
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Joint hypermobility, Multiple joint dislocation, Craniosynostosis, Sandal gap, Shoulder dislocati... OMIM:245600
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Overlapping fingers, Rocker bottom foot, Postaxial hand polydactyly, Craniosynostosis, Arthrogryp... OMIM:301056
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Craniosynostosis, Toe syndactyly, Abnormality of the pinna, Low-set ears, Small for gestational a... OMIM:300707
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Craniosynostosis, Joint laxity, Phalangeal dislocation, Slender toe, Long toe, Short clavicles, D... OMIM:130070
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Mohr-Tranebjaerg Syndrome
Vestibular dysfunction, Ankle clonus, Absent brainstem auditory responses, Sensorineural hearing ... ORPHA:52368
Shprintzen-Goldberg Syndrome
Genu valgum, Camptodactyly of finger, Craniosynostosis, Frontal bossing, Elbow dislocation, Condu... ORPHA:2462
Enlarged Parietal Foramina
Symmetrical, oval parietal bone defects, Craniosynostosis, Broad thumb, Short clavicles ORPHA:60015
Timothy Syndrome
Ventricular septal defect, Patent ductus arteriosus, Prolonged QT interval, Cardiomegaly, Patent ... OMIM:601005
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Craniosynostosis, Flexion contracture, Optic disc pallor, Hypsarrhythmia OMIM:619076
Hypomandibular Faciocranial Dysostosis
Coronal craniosynostosis OMIM:241310
Pendred Syndrome
Cochlear malformation, Vestibular dysfunction, Congenital sensorineural hearing impairment OMIM:274600
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Hepatomegaly, Congestive heart failure, Ascites, Cardiomegaly, Splenomegaly OMIM:269920
Congenital Bile Acid Synthesis Defect Type 3
Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepat... ORPHA:79302
Osteogenesis Imperfecta, Type I
Otosclerosis, Joint hypermobility, Wormian bones, Recurrent fractures, Hearing impairment, Increa... OMIM:166200
Hemochromatosis, Type 2A
Cirrhosis, Arrhythmia, Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopat... OMIM:602390
Craniotelencephalic Dysplasia
Craniosynostosis, Optic nerve hypoplasia OMIM:218670
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Cole-Carpenter Syndrome 1
Orbital craniosynostosis, Frontal bossing, Midface retrusion, Recurrent fractures, Coronal cranio... OMIM:112240
Fg Syndrome Type 1
Slender build, Progressive flexion contractures, Craniosynostosis, Abnormal thumb morphology, Bro... ORPHA:93932
Neuraminidase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Hepatomegaly, Cardiomegaly, Ascites, Splenomegaly... OMIM:256550
Corpus Callosum Agenesis-Neuronopathy Syndrome
Craniosynostosis, EEG abnormality, Turricephaly ORPHA:1496
Schinzel-Giedion Syndrome
Wormian bones, Hypsarrhythmia, Camptodactyly, Abnormality of the stapes, Failure to thrive in inf... ORPHA:798
Deafness, Autosomal Dominant 9
Vertigo, Cochlear degeneration, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Holoprosencephaly-Craniosynostosis Syndrome
Craniosynostosis, Short distal phalanx of finger, Plagiocephaly, Brachycephaly, Clinodactyly of t... ORPHA:2163
Shprintzen-Goldberg Craniosynostosis Syndrome
Genu valgum, Dislocated radial head, Joint hypermobility, Craniosynostosis, Wide anterior fontane... OMIM:182212
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Hand polydactyly, Conductive hearing impairment, Midface retrusion, Platybasia,... ORPHA:261197
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia, Hearing impairment OMIM:615269
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Metaphyseal chondrodysplasia, Craniosynostosis, Frontal bossing, Macrotia, Short distal phalanx o... OMIM:250410
3Mc Syndrome
Craniosynostosis, Radioulnar synostosis, Abnormality of the pinna, Low-set ears, Hearing impairme... ORPHA:293843
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Broad thumb, Short metatarsal, Short phalanx of finger, Flared iliac wing, Over... OMIM:609945
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Camptodactyly, Mild hearing impairment, Low-set ears, Small hand, Trigonocephaly, Brachycephaly, ... ORPHA:459061
Hemochromatosis, Type 1
Cirrhosis, Arrhythmia, Hepatocellular carcinoma, Hepatomegaly, Congestive heart failure, Cardiome... OMIM:235200
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Cochlear aplasia, Morphological abnormality of the semicircul... OMIM:619274
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly, Abnormal... ORPHA:1329
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration OMIM:258700
Pfeiffer Syndrome
Humeroradial synostosis, Broad thumb, Finger syndactyly, Cloverleaf skull, Elbow ankylosis, Synda... OMIM:101600
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Macrovesicular hepatic steatosis, Ventricular tachycardia, Hepatomegaly, Cardiomegaly, Dilated ca... OMIM:600649
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Craniosynostosis, Low-set ears, Forearm undergrowth, Absen... OMIM:251230
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormality of the antihelix, Craniosynostosis, Tarsal synostosis, Camptodactyly, Stenosis of the... ORPHA:95699
Mucolipidosis Iii Alpha/Beta
Irregular carpal bones, Craniosynostosis, Split hand, Carpal bone hypoplasia, Short long bone, So... OMIM:252600
Xq21 Microdeletion Syndrome
Stapes ankylosis, Conductive hearing impairment, Ankle clonus, Sensorineural hearing impairment, ... ORPHA:1435
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Hepatomegaly, Acute myeloid leukemia, Thrombocytopenia, Anemia, Splenomega... OMIM:133180
Curry-Jones Syndrome
Cutaneous syndactyly of toes, Preaxial hand polydactyly, Broad thumb, Craniosynostosis, Cutaneous... OMIM:601707
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of inadequate production, ... OMIM:237800
Saethre-Chotzen Syndrome
Lambdoidal craniosynostosis, Oxycephaly, Hallux valgus, Radioulnar synostosis, Plagiocephaly, Low... OMIM:101400
Curry-Jones Syndrome
Preaxial hand polydactyly, Broad thumb, Toe syndactyly, Craniosynostosis, Finger syndactyly, Opti... ORPHA:1553
Branchiogenic Deafness Syndrome
Osteolytic defects of the distal phalanges of the hand, Abnormality of the middle ear ossicles, A... ORPHA:50815
Distal Trisomy 5Q
Hypoplasia of the radius, Craniosynostosis, Macrotia, Hypoplasia of the ulna, Low-set ears, Absen... ORPHA:96097
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Tarsal synostosis, Wide anterior fontanel, Frontal bossing, Large posterior fontanelle, Parietal ... ORPHA:85199
Refsum Disease, Classic
Arrhythmia, Congestive heart failure, Cardiomegaly, Limb muscle weakness, Cardiomyopathy OMIM:266500
Ear-Patella-Short Stature Syndrome
Anotia, Camptodactyly of finger, Craniosynostosis, Abnormality of epiphysis morphology, Elbow dis... ORPHA:2554
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Metaphyseal chondrodysplasia, Craniosynostosis, Frontal bossing, Macrotia, Low-set ears, Short me... ORPHA:166035
Congenital Toxoplasmosis
Hepatomegaly, Jaundice, Thrombocytopenia, Cardiomegaly, Anemia, Ascites, Lymphadenopathy ORPHA:858
Distal Tetrasomy 15Q
Craniosynostosis, Camptodactyly, Flexion contracture, Low-set ears, Cupped ear, Sensorineural hea... ORPHA:314588
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Reduced ejection fraction, Hepatocellular necrosis, Hepatic steatosis, Periportal fibrosis, Exerc... OMIM:201475
Teebi Hypertelorism Syndrome
Small hand, Craniosynostosis, Frontal bossing OMIM:145420
Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome
Uplifted earlobe, Small earlobe, Craniosynostosis, Joint laxity, Low-set ears, Hearing impairment... ORPHA:412069
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Trisomy 10P
Flexion contracture of thumb, Low voltage EEG, Abnormal hip joint morphology, Frontal bossing, Ma... ORPHA:171929
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Joint hypermobility, Multiple joint dislocation, Craniosynostosis, Phalangeal dislocation, Slende... ORPHA:536467
Aymé-Gripp Syndrome
Rocker bottom foot, Craniosynostosis, Radioulnar synostosis, Large fontanelles, Camptodactyly, Pl... ORPHA:1272
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Tricuspid regurgitatio... OMIM:618652
Gorlin-Chaudhry-Moss Syndrome
Conductive hearing impairment, Short distal phalanx of finger, Abnormality of the metacarpal bone... ORPHA:2095
Slc39A8-Cdg
Cutaneous syndactyly of toes, Craniosynostosis, Hypsarrhythmia, Failure to thrive in infancy, Low... ORPHA:468699
Mosaic Variegated Aneuploidy Syndrome 2
Craniosynostosis, Frontal bossing, Low-set ears, Hearing impairment, Clinodactyly, Round ear, Sma... OMIM:614114
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Frontal bossing, Calvarial skull defect, Low-set ears, Brachycephaly, Coronal craniosynostosis ORPHA:228390
Nablus Mask-Like Facial Syndrome
Craniosynostosis, Frontal bossing, Camptodactyly, Posteriorly rotated ears, Low-set ears, Clinoda... OMIM:608156
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced ejection fraction, Scapular winging, Muscular edema, Lower limb muscle weakness, Proximal... ORPHA:268
Lowry-Maclean Syndrome
Osteoporosis, Craniosynostosis, Widely patent coronal suture, Small anterior fontanelle, Low-set ... ORPHA:2409
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Gastrointestinal hemorrhage, Leukocytosis, Budd-Chiari synd... OMIM:263300
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Thickened helices, Craniosynostosis, Macrotia, Midface retrusion, Aplasia/Hypoplasia of the earlo... ORPHA:1555
Apert Syndrome
Humeroradial synostosis, Preaxial hand polydactyly, Postaxial hand polydactyly, Large fontanelles... OMIM:101200
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Joint hypermobility, Craniosynostosis OMIM:618906
3Mc Syndrome 1
Wide anterior fontanel, Radioulnar synostosis, Lambdoidal craniosynostosis, Single interphalangea... OMIM:257920
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Contractures of the large joints, Abnormal atrioventricular valve morphology, Tri... ORPHA:324410
Glycogen Storage Disease Ii
Macroglossia, Wolff-Parkinson-White syndrome, Firm muscles, Hepatomegaly, Shortened PR interval, ... OMIM:232300
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Limb hypertonia, Cardiomegaly OMIM:619170
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
15Q Overgrowth Syndrome
Joint hypermobility, Craniosynostosis, Overlapping toe, Low-set, posteriorly rotated ears, Abnorm... ORPHA:314585
Usher Syndrome Type 3
Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypofunction ORPHA:231183
Mucolipidosis Type Ii
Limited wrist movement, Abnormality of long bone morphology, Craniosynostosis, Prominent metopic ... ORPHA:576
Roberts Syndrome
Craniosynostosis, Sandal gap, Wrist flexion contracture, Phocomelia, Complete duplication of thum... ORPHA:3103
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly OMIM:619064
Congenital Pulmonary Lymphangiectasia
Tricuspid regurgitation, Hepatomegaly, Pulmonic stenosis, Congestive heart failure, Ascites, Sple... ORPHA:2414
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Temporal op... ORPHA:1215
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Aphalangy of the hands, Limited shoulder movement, Absent radius, Sp... OMIM:218600
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Usher Syndrome Type 1
Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypofunction ORPHA:231169
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Microcytic anemia, Splenomegaly ORPHA:231242
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Craniosynostosis, Low-set, posteriorly rotated ears, Plagiocephaly, Optic atrophy, Brachydactyly ORPHA:457193
Erythrocytosis, Familial, 1
Increased hematocrit, Increased hemoglobin, Hypertension, Increased red blood cell mass, Myocardi... OMIM:133100
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Tangier Disease
Hepatomegaly, Myocardial infarction, Distal amyotrophy, Left ventricular hypertrophy, Splenomegal... OMIM:205400
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Joint hypermobility, Upper limb undergrowth, Craniosynostosis, EEG with spike-wave complexes, Sle... ORPHA:369837
Autosomal Dominant Hyper-Ige Syndrome
Craniosynostosis, Joint hyperflexibility, Chronic otitis media, Recurrent fractures, Osteopenia, ... ORPHA:2314
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiomegaly, Eosinophilia... ORPHA:75565
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Congestive heart failure, Cardiomegaly, Ascites, Pericardial c... OMIM:253250
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Hepatic steatosis, Hepatomegaly, Distal arthrogryposis, Cardiomegaly, Skeletal muscle... ORPHA:42
Triglyceride Deposit Cardiomyovasculopathy
Palpitations, Abnormality of the shoulder girdle musculature, Arrhythmia, Coronary artery stenosi... ORPHA:565612
Lcat Deficiency
Hemolytic anemia, Hypertension, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:650
Hb Bart'S Hydrops Fetalis
Pericarditis, Hepatomegaly, Congestive heart failure, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Sickle Cell Anemia
Hemolytic anemia, Leukocytosis, Cholelithiasis, Hypertension, Hepatomegaly, Jaundice, Increased r... OMIM:603903
Otosclerosis 10
Otosclerosis OMIM:615589
9Q21.13 Microdeletion Syndrome
Polydactyly, Hip dysplasia, Craniosynostosis ORPHA:531151
Scarf Syndrome
Craniosynostosis, Low-set, posteriorly rotated ears, Short sternum, Joint hyperflexibility ORPHA:3134
Pseudo-Torch Syndrome 3
Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Hypertension, Cerebral hemorrhage, Card... OMIM:618886
Musculocontractural Ehlers-Danlos Syndrome
Craniosynostosis, Arthrogryposis multiplex congenita, Large fontanelles, Macrotia, Generalized jo... ORPHA:2953
Pseudoaminopterin Syndrome
Clubbing of fingers, Hip subluxation, Postaxial polydactyly, Clinodactyly of the 5th toe, Short t... ORPHA:221120
Dubowitz Syndrome
Abnormality of the antihelix, Craniosynostosis, Broad thumb, Wide anterior fontanel, Toe syndacty... ORPHA:235
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hepatic steatosis, Arrhythmia, Cardiomegaly OMIM:255120
Neonatal Lupus Erythematosus
Heart block, Hemolytic anemia, Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, ... ORPHA:398124
Alpha-Mannosidosis, Infantile Form
Genu valgum, Craniosynostosis, Osteolysis, Joint laxity, Hypoplastic inferior ilia, Thickened cal... ORPHA:309282
Cerebrooculonasal Syndrome
Craniosynostosis, Postaxial hand polydactyly, Frontal bossing, Low-set ears, Posteriorly rotated ... OMIM:605627
Pendred Syndrome
Hypoplasia of the cochlea, Vertigo, Enlarged vestibular aqueduct, Sensorineural hearing impairmen... ORPHA:705
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Biliary atresi... OMIM:306955
Gaucher Disease, Type Iiic
Mitral valve calcification, Hepatomegaly, Pancytopenia, Cardiomegaly, Mitral stenosis, Splenomega... OMIM:231005
Spondylodysplastic Ehlers-Danlos Syndrome
Joint hypermobility, Optic disc coloboma, Slender long bones with narrow diaphyses, Abnormality o... ORPHA:536471
Scarf Syndrome
Lambdoidal craniosynostosis, Short sternum, Low-set ears, Posteriorly rotated ears, Coronal crani... OMIM:312830
Beare-Stevenson Cutis Gyrata Syndrome
Limited elbow extension, Craniosynostosis, Midface retrusion, Low-set, posteriorly rotated ears, ... OMIM:123790
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Abnormal ilium morphology, Abnormality of limb bone morphology, Preaxial hand polydactyly, Cranio... ORPHA:508533
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Conductive hearing impairment, Camptodactyly, Hypoplastic iliac wing, Low-set ears, Cutaneous fin... OMIM:235510
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Hip dysplasia, Craniosynostosis, Abnormal autonomic nervous system physiology, Plagiocephaly, Hea... ORPHA:453499
Craniosynostosis With Ocular Abnormalities And Hallucal Defects
Absent hallux, Craniosynostosis, Frontal bossing, Metatarsus adductus, Absent toe, Dolichocephaly OMIM:608279
Familial Aortic Dissection
Patent ductus arteriosus, Abnormal left ventricular function, Cardiomegaly, Aortic regurgitation ORPHA:229
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Arrhythmia, Decreased muscle mass, Hepatocellular carcinoma, Elevated jugular venous p... ORPHA:465508
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Anemia, Splenomegaly, Hypersplenis... ORPHA:846
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly, Patent ductus arteriosus, Histiocytosis, Pancreatic hypoplasia, Cardiomegaly, Pulm... OMIM:602782
Fish-Eye Disease
Hepatomegaly, Angina pectoris, Lymphadenopathy, Splenomegaly ORPHA:79292
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Irregular epiphyses, Sensorineural hearing impairment, Optic... OMIM:619260
7Q11.23 Microduplication Syndrome
Joint hypermobility, Cubitus valgus, Craniosynostosis, Large earlobe, Overfolded helix, Low-set, ... ORPHA:96121
Cranioectodermal Dysplasia 3
Joint laxity, Frontal bossing, Postaxial polydactyly, Sandal gap, Syndactyly, Sagittal craniosyno... OMIM:614099
Mend Syndrome
Overlapping fingers, Hand polydactyly, Wide anterior fontanel, Overlapping toe, Midface retrusion... ORPHA:401973
Primary Lipodystrophy
Cirrhosis, Angina pectoris, Hepatic steatosis, Skeletal muscle hypertrophy, Hypertension, Congest... ORPHA:90970
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Camptodactyly of finger, 4-5 finger syndactyly, 2-5 finger syndactyly, Craniosynostosis, Bilatera... ORPHA:468631
3Mc Syndrome 2
Joint hypermobility, Craniosynostosis, Radioulnar synostosis, Hearing impairment, Caudal appendag... OMIM:265050
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Anemia of inadequate production OMIM:224100
Craniofrontonasal Syndrome
Axillary pterygium, Toe syndactyly, Joint laxity, Frontal bossing, Down-sloping shoulders, Broad ... OMIM:304110
Acrocephalopolydactylous Dysplasia
Craniosynostosis, Postaxial hand polydactyly, Oxycephaly, Abnormality of the pinna, Low-set ears OMIM:200995
Carpenter Syndrome 2
Craniosynostosis, Broad thumb, Frontal bossing, Oxycephaly, Midface retrusion, Camptodactyly, Pre... OMIM:614976
Hypomandibular Faciocranial Dysostosis
Craniosynostosis, Midface retrusion, Optic disc coloboma, Low-set ears, Trigonocephaly, Brachycep... ORPHA:1790
Bor Syndrome
Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Enlarged cochlear aqueduct, At... ORPHA:107
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Craniosynostosis, Overlapping toe, Camptodactyly, Flexion contracture, Low-set ears, Cupped ear, ... OMIM:309590
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Joint hypermobility, Short long bone, Joint stiffness, Brachydactyly, Bicoronal synostosis, Short... OMIM:619184
Cockayne Syndrome B
Osteoporosis, Hypoplastic pelvis, Square pelvis bone, Hypoplastic iliac wing, Abnormality of the ... OMIM:133540
Hyperlysinemia
Craniosynostosis, EEG with spike-wave complexes, Hypoplastic helices, Hypoplasia of the antihelix... ORPHA:2203
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Wide anterior fontanel, Low-set ears, Sensorineural hearing impairment, Sagittal craniosynostosis... OMIM:610199
15q26 overgrowth syndrome
Camptodactyly of finger, Joint hypermobility, Craniosynostosis, Abnormality of finger, Abnormalit... DECIPHER:81
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Macroglossia, Facial hypotonia, Left ventricular outflow tract obstruction, Hepatomegaly, Heart m... ORPHA:308552
Autosomal Recessive Malignant Osteopetrosis
Craniosynostosis, Abnormality of epiphysis morphology, Bowing of the long bones, Recurrent fractu... ORPHA:667
Arboleda-Tham Syndrome
Short hallux, Genu valgum, Prominent antihelix, Deviation of the hallux, Small earlobe, Craniosyn... OMIM:616268
Cantu Syndrome
Pericardial effusion, Patent ductus arteriosus, Congenital hypertrophy of left ventricle, Cardiom... OMIM:239850
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Squared iliac bones, Unicoronal synostosis, Hypoplastic pelvis, Macrotia, Midface retrusion, Prea... OMIM:616300
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Epistaxis, Thrombocytopenia, Splenomegaly OMIM:314050
Cranioectodermal Dysplasia 1
Osteoporosis, Short toe, Triphalangeal hallux, Joint laxity, Broad toe, Frontal bossing, Sagittal... OMIM:218330
Pediatric-Onset Graves Disease
Craniosynostosis, Failure to thrive, Small anterior fontanelle ORPHA:525731
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Joint hypermobility, Postaxial hand polydactyly, Craniosynostosis, Overlapping toe, Low-set, post... OMIM:213980
Arterial Tortuosity Syndrome
Hip dysplasia, Rocker bottom foot, Craniosynostosis, Macrotia, Joint hyperflexibility, Avascular ... ORPHA:3342
Frontonasal Dysplasia 2
Parietal foramina, Craniosynostosis OMIM:613451
Say-Barber-Miller Syndrome
Craniosynostosis, Macrotia, Low-set, posteriorly rotated ears, Ankle clonus, Protruding ear, Pate... ORPHA:3132
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Hip dysplasia, Craniosynostosis, Joint laxity, Lambdoidal craniosynostosis, Prominent metopic rid... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Hip dysplasia, Craniosynostosis, Joint laxity, Lambdoidal craniosynostosis, Prominent metopic rid... ORPHA:352665
Hartsfield Syndrome
Craniosynostosis, Low-set ears, Posteriorly rotated ears, Syndactyly, Hypoplasia of the frontal b... OMIM:615465
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Hypochromia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia, Sple... OMIM:616860
Cranioectodermal Dysplasia 2
Postaxial hand polydactyly, Craniosynostosis, Joint laxity, Frontal bossing, Polydactyly, Midface... OMIM:613610
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Congestive heart failure, Tachycardia, Splenomegaly ORPHA:90037
Sclerosing Cholangitis, Neonatal
Cirrhosis, Biliary cirrhosis, Sclerosing cholangitis, Cholestasis, Hepatomegaly, Jaundice, Spleno... OMIM:617394
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Congestive heart failure, Cardiomegaly, Limb muscle weakness, Increased hepatic glycogen content,... OMIM:619259
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Flexion contracture, Hepatomegaly, Skeletal muscle atrophy, Splenome... OMIM:619183
Noonan Syndrome 3
Left unilambdoid synostosis, Thickened helices, Frontal bossing, Low-set ears, Posteriorly rotate... OMIM:609942
Gaucher Disease, Type I
Pulmonary arterial hypertension, Epistaxis, Hypertension, Hepatomegaly, Pancytopenia, Aortic valv... OMIM:230800
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic activity, D... ORPHA:206443
Sandhoff Disease
Macroglossia, Orthostatic hypotension, Hepatomegaly, Cardiomegaly, Skeletal muscle atrophy, Hepat... OMIM:268800
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Ankle clonus, Hearing impairment, Cachexia, Failu... ORPHA:206436
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Joint hypermobility, Thickened helices, Craniosynostosis, Frontal bossing, Overfolded helix, Low-... OMIM:617506
Adams-Oliver Syndrome 5
Pulmonary arterial hypertension, Pulmonic stenosis, Right atrial enlargement, Right ventricular h... OMIM:616028
Choanal Atresia
Polydactyly, Craniosynostosis ORPHA:137914
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Rocker bottom foot, Humeroradial synostosis, Simple ear, Tarsal synostosis, Radioulnar synostosis... OMIM:201750
Branchiootorenal Syndrome 1
Hypoplasia of the cochlea, Congenital hip dislocation, Conductive hearing impairment, Cupped ear,... OMIM:113650
Trichothiodystrophy
Craniosynostosis, Increased bone mineral density, Protruding ear, Multiple joint contractures, Jo... ORPHA:33364
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Craniosynostosis, Frontal bossing ORPHA:1064
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Long-segment aganglionic megacolon, Abnormal autonomic nerv... OMIM:609136
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction OMIM:105210
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia OMIM:618838
Paternal Uniparental Disomy Of Chromosome 1
Craniosynostosis, Recurrent fractures, Obesity ORPHA:251004
Generalized Arterial Calcification Of Infancy
Stippled calcification of the elbow, Abnormality of the knee, Abnormal hip joint morphology, Stap... ORPHA:51608
Marfanoid-Progeroid-Lipodystrophy Syndrome
Craniosynostosis, Hyperextensibility of the finger joints, Arachnodactyly, Scaphocephaly, Long fi... OMIM:616914
Koolen-De Vries Syndrome Due To A Point Mutation
Slender build, Joint hypermobility, Craniosynostosis, Joint laxity, Macrotia, EEG with focal epil... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Slender build, Joint hypermobility, Craniosynostosis, Joint laxity, Macrotia, EEG with focal epil... ORPHA:363958
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Cardiomegaly, Hypertension OMIM:613320
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Arrhythmia, Enlarged kidney, Increased muscle lipid content, ... OMIM:608836
Cerebrotendinous Xanthomatosis
Osteoporosis, Abnormality of tibia morphology, Abnormality of finger, Decreased nerve conduction ... ORPHA:909
Ctcf-Related Neurodevelopmental Disorder
Craniosynostosis, Midface retrusion, Low-set, posteriorly rotated ears, Broad hallux phalanx, 2-3... ORPHA:363611
17Q24.2 Microdeletion Syndrome
Otosclerosis, Cubitus valgus, Upper limb undergrowth, Broad thumb, Midface retrusion, Recurrent o... ORPHA:529962
Fontaine Progeroid Syndrome
Craniosynostosis, Wide anterior fontanel, Conductive hearing impairment, Midface retrusion, Short... OMIM:612289
Cockayne Syndrome A
Hypoplastic pelvis, Square pelvis bone, Hypoplastic iliac wing, Abnormality of the pinna, Thicken... OMIM:216400
Cockayne Syndrome Type 1
Macrotia, Contractures involving the joints of the feet, Hearing impairment, Absent brainstem aud... ORPHA:90321
Triosephosphate Isomerase Deficiency
Chronic hemolytic anemia, Hemolytic anemia, Cholelithiasis, Normocytic anemia, Jaundice, Normochr... OMIM:615512
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hepatomeg... OMIM:616689
Charcot-Marie-Tooth Disease Type 1F
Flexion contracture of finger, Absent brainstem auditory responses, Sensorineural hearing impairm... ORPHA:101085
Zttk Syndrome
Joint hypermobility, Craniosynostosis, Frontal bossing, Midface retrusion, Flexion contracture, L... OMIM:617140
Adult-Onset Autosomal Dominant Leukodystrophy
Autonomic bladder dysfunction, Orthostatic hypotension, Flexion contracture, Abnormal autonomic n... ORPHA:99027
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Hypoplasia of the thymus, Torticollis, Cardiomegaly, Overriding aorta OMIM:617022
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Lethal Acantholytic Erosive Disorder
Camptodactyly of toe, Impaired myocardial contractility, Cardiomegaly, Hypovolemic shock, Cardiom... ORPHA:158687
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses ORPHA:3240
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Flexion contracture, Ascites, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:616897
Microphthalmia, Syndromic 6
Uplifted earlobe, Flexion contracture of thumb, Preaxial hand polydactyly, Toe syndactyly, Lambdo... OMIM:607932
Craniosynostosis-Mental Retardation Syndrome Of Lin And Gettig
Craniosynostosis, Midface retrusion, Camptodactyly, Low-set ears, Stenosis of the external audito... OMIM:218649
Fucosidosis
Macroglossia, Vacuolated lymphocytes, Flexion contracture, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:230000
Roberts-Sc Phocomelia Syndrome
Craniosynostosis, Stillbirth, Abnormality of the pinna, Abnormality of the metacarpal bones, Radi... OMIM:268300
Peters-Plus Syndrome
Craniosynostosis, Short metatarsal, Joint laxity, Square pelvis bone, Stenosis of the external au... OMIM:261540
Nephronophthisis 19
Cholestasis, Hepatomegaly, Hepatic fibrosis, Splenomegaly, Bile duct proliferation OMIM:616217
Fucosidosis
Hepatomegaly, Decreased muscle mass, Cardiomegaly, Abnormality of the gallbladder ORPHA:349
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Elliptocytosis, Hepatocellular necrosis, Reticulocytosis, Hepatomegaly,... OMIM:618278
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholecystitis, Polycythemia, Cholelithiasis, Normocytic anemia, ... OMIM:222800
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612690
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Truncus Arteriosus
Atrial septal defect, Truncus arteriosus, Aortic regurgitation, Abnormal heart morphology, Abnorm... ORPHA:3384
Proteus Syndrome
Craniosynostosis, Abnormality of finger, Narrow internal auditory canal, Finger syndactyly, Macro... ORPHA:744
Branchioskeletogenital Syndrome
Craniosynostosis, Upper limb peromelia, Thickened calvaria, Attached earlobe, Amelia involving th... ORPHA:1299
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Craniosynostosis, Syndactyly, Plagiocephaly, Unilateral brachydactyly ORPHA:1521
Beck-Fahrner Syndrome
Facial hypotonia, Cardiomegaly, Ventricular septal defect OMIM:618798
Hennekam Syndrome
Camptodactyly of finger, Craniosynostosis, Finger syndactyly, Conductive hearing impairment, Low-... ORPHA:2136
22Q11.2 Deletion Syndrome
Small earlobe, Hand polydactyly, Overfolded helix, Conductive hearing impairment, Platybasia, Joi... ORPHA:567
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Normocytic anemi... OMIM:235700
Gaucher Disease, Perinatal Lethal
Arthrogryposis multiplex congenita, Hepatomegaly, Thrombocytopenia, Cardiomegaly, Anemia, Splenom... OMIM:608013
Doors Syndrome
Abnormality of toe, Abnormality of finger, Frontal bossing, Anterior plagiocephaly, Aplasia/Hypop... ORPHA:79500
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Arrhythmia, Hepatic steatosis, Renal tubular epithelial necrosis, Hepatomegaly, Hepatic calcifica... ORPHA:228308
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Thenar muscle atrophy, Hypoplasia of the musculature, Mucosal telangie... ORPHA:2463
Waardenburg Syndrome, Type 2E
Hypoplasia of the semicircular canal, Morphological abnormality of the vestibule of the inner ear... OMIM:611584
Hypertrichotic Osteochondrodysplasia, Cantu Type
Abnormal heart valve morphology, Patent ductus arteriosus, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:1517
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hepatomegaly, Jaundice, Splenomegaly OMIM:185000
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612653
Mucolipidosis Ii Alpha/Beta
Macroglossia, Diastasis recti, Aortic regurgitation, Hepatomegaly, Heart murmur, Congestive heart... OMIM:252500
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Spherocytosis OMIM:182900
Opitz Gbbb Syndrome, Type Ii
Craniosynostosis, Frontal bossing, Conductive hearing impairment, Posteriorly rotated ears, Crani... OMIM:145410
Histiocytoid Cardiomyopathy
Ventricular septal defect, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, V... ORPHA:137675
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Cryohydrocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Glycogen Storage Disease Due To Acid Maltase Deficiency
EMG: myopathic abnormalities, Macroglossia, Facial hypotonia, Flexion contracture, Lower limb mus... ORPHA:365
Gabriele-De Vries Syndrome
Patellar subluxation, Craniosynostosis, Finger joint hypermobility, Sandal gap, Low-set ears, Pos... ORPHA:506358
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Overlapping toe, Contracture of the distal interphalangeal joint of the fingers, Low-set ears, Fa... ORPHA:83617
Opitz Gbbb Syndrome
Craniosynostosis, Large fontanelles, Low-set ears, Posteriorly rotated ears, Hearing impairment, ... ORPHA:2745
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Aortic regurgitation, Hypovolemia, Subarachnoid hemorrhage, Abnormal left ventri... ORPHA:91387
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Craniosynostosis, Failure to thrive ORPHA:79396
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Single ventricle, Patent ductus arteriosus, ... ORPHA:99125
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Joint hypermobility, Hyperextensible hand joints, Frontal bossing, Failure to thrive in infancy, ... ORPHA:500150
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Jaundice, Splenomegaly, Acanth... OMIM:109270
Reynolds Syndrome
Lip telangiectasia, Gastrointestinal hemorrhage, Biliary cirrhosis, Hepatomegaly, Jaundice, Calci... OMIM:613471
Mucopolysaccharidosis Type 2
Hip dysplasia, Otosclerosis, Conductive hearing impairment, Hip osteoarthritis, Papilledema, Flex... ORPHA:580
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the skin, Cardiomegaly, Lip telangiectasia, Telangiectasia of the oral mucosa ORPHA:79280
Mucopolysaccharidosis Type 3
Recurrent tonsillitis, Reduced ejection fraction, Macroglossia, Abnormal mitral valve morphology,... ORPHA:581
Loeys-Dietz Syndrome 2
Osteoporosis, Protrusio acetabuli, Craniosynostosis, Joint laxity, Camptodactyly, Postaxial polyd... OMIM:610168
Developmental And Epileptic Encephalopathy 95
Macroglossia, Arthrogryposis multiplex congenita, Hepatomegaly, Multiple joint contractures, Card... OMIM:618143
Abetalipoproteinemia
Cirrhosis, Reticulocytosis, Hepatic steatosis, Hepatomegaly, Hepatic fibrosis, Congestive heart f... ORPHA:14
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Distal Renal Tubular Acidosis
Rickets, Enlarged vestibular aqueduct, Reduced bone mineral density, Osteomalacia, Sensorineural ... ORPHA:18
Paternal Uniparental Disomy Of Chromosome 6
Macroglossia, Ventricular septal defect, Patent ductus arteriosus, Hepatomegaly, Cardiomegaly ORPHA:96191
Bohring-Opitz Syndrome
Bilateral wrist flexion contracture, Facial hypotonia, Lower limb hypertonia, Congenital contract... ORPHA:97297
Loeys-Dietz Syndrome 1
Craniosynostosis, Postaxial hand polydactyly, Joint laxity, Camptodactyly, Arachnodactyly OMIM:609192
Loeys-Dietz Syndrome
Camptodactyly of finger, Craniosynostosis, Joint hyperflexibility, Joint dislocation, Arachnodactyly ORPHA:60030
Beckwith-Wiedemann Syndrome
Macroglossia, Diastasis recti, Enlarged kidney, Hepatoblastoma, Hepatomegaly, Pancreatic hyperpla... OMIM:130650
Proteasome-Associated Autoinflammatory Syndrome 1
Camptodactyly of finger, Macroglossia, Arrhythmia, Flexion contracture of finger, Microcytic anem... OMIM:256040
Mucopolysaccharidosis Type 2, Severe Form
Hip dysplasia, Camptodactyly of finger, Otosclerosis, Conductive hearing impairment, Flexion cont... ORPHA:217085
Branchiooculofacial Syndrome
Preaxial hand polydactyly, Overfolded helix, Conductive hearing impairment, Elbow flexion contrac... OMIM:113620
Mucopolysaccharidosis Type 2, Attenuated Form
Hip dysplasia, Camptodactyly of finger, Otosclerosis, Conductive hearing impairment, Flexion cont... ORPHA:217093
Sotos Syndrome
Craniosynostosis, Joint laxity, Conductive hearing impairment, 2-3 toe syndactyly, Chronic otitis... ORPHA:821
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Right ventricular hype... OMIM:300967
Beckwith-Wiedemann Syndrome
Otosclerosis, Posterior helix pit, Wide anterior fontanel, Large fontanelles, Midface retrusion, ... ORPHA:116
Aicardi-Goutières Syndrome
Chronic lymphatic leukemia, Prolonged neonatal jaundice, Multiple joint contractures, Cardiomegal... ORPHA:51
Loeys-Dietz Syndrome 3
Intervertebral disc degeneration, Craniosynostosis, Protrusio acetabuli, Joint laxity, Hip osteoa... OMIM:613795
Aprosencephaly And Cerebellar Dysgenesis
Craniosynostosis OMIM:601374
Greenberg Dysplasia
Extramedullary hematopoiesis, Hepatomegaly, Hepatic calcification, Cardiomegaly, Hepatosplenomega... OMIM:215140
Singleton-Merten Syndrome 1
Tendon rupture, Mitral valve calcification, Aortic valve stenosis, Congestive heart failure, Card... OMIM:182250
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Uplifted earlobe, Genu valgum, Camptodactyly, Recurrent otitis media, Flexion contracture, Right ... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Camptodactyly, Sensorineural hearing impairment, Long toe, Hallux valgus, Uplifted earlobe, Genu ... ORPHA:261552
Leukocyte Adhesion Deficiency
Osteomyelitis, Otitis media, Coronal craniosynostosis ORPHA:2968
Williams Syndrome
Abnormal endocardium morphology, Patent ductus arteriosus, Cardiomegaly, Cerebral ischemia, Supra... ORPHA:904
Norrie Disease
Macrotia, Protruding ear, Sensorineural hearing impairment, Abnormality of the helix, Cachexia, F... ORPHA:649
Yunis-Varon Syndrome
Atrial septal defect, Ventricular septal defect, Renovascular hypertension, Hypertension, Cardiom... ORPHA:3472
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteoporosis, Generalized joint laxity, Camptodactyly, Osteopenia, Eunuchoid habitus, Congenital ... ORPHA:432
Kallmann Syndrome
Reduced bone mineral density, Sensorineural hearing impairment, Recurrent fractures, Obesity 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) Targeting vectors, ES Cells

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