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Gene: Dlx1 MGI:94901

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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:
distal-less homeobox 1
Synonyms:
DII B,  Dlx,  Dlx-1

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 Dlx1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Dlx1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment... OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, Aplasia/Hypoplasia of the earlobes,... ORPHA:3232
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... OMIM:616515
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Bilateral conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormality of t... OMIM:128980
Progressive Deafness With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment ORPHA:3235
Deafness, Progressive, With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment OMIM:601449
Deafness, Conductive, With Malformed External Ear
Low-set ears, Conductive hearing impairment, Abnormal pinna morphology, Abnormality of the middle... OMIM:221300
Deafness, X-Linked 2
Stapes ankylosis, Conductive hearing impairment, Dilatated internal auditory canal, Progressive s... OMIM:304400
Otosclerosis 7
Conductive hearing impairment, Otosclerosis, Progressive hearing impairment, Abnormality of the a... OMIM:611572
Non-Syndromic Genetic Deafness
Postlingual sensorineural hearing impairment, Conductive hearing impairment, Prelingual sensorine... ORPHA:87884
Atresia Of External Auditory Canal And Conductive Deafness
Stenosis of the external auditory canal, Conductive hearing impairment, Aplasia/Hypoplasia of the... OMIM:108760
Deafness, Autosomal Dominant 23
Conductive hearing impairment, Sensorineural hearing impairment OMIM:605192
Conductive Deafness-Malformed External Ear Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Microtia, Abnormality of the mid... ORPHA:3216
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Conductive hearing impairment, Abnormality of the middle ear ossicles, Enlarged... ORPHA:90646
Otosclerosis 1
Conductive hearing impairment, Otosclerosis OMIM:166800
Aural Atresia, Congenital
Conductive hearing impairment, Atresia of the external auditory canal OMIM:607842
Deafness, Autosomal Recessive 88
Mixed hearing impairment OMIM:615429
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Conductive hearing impairment, Congenital stapes ankylosis OMIM:184460
Symphalangism, Proximal, 1A
Stapes ankylosis, Conductive hearing impairment OMIM:185800
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Conductive hearing impairment, Chronic otitis media, Atresia of the external auditory canal OMIM:221320
Chromosome Xq21 Deletion Syndrome
Incomplete partition of the cochlea, Hearing impairment, Conductive hearing impairment, Progressi... OMIM:303110
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Middle Ear Neuroendocrine Tumor
Sensorineural hearing impairment, Abnormality of the auditory canal, Unilateral conductive hearin... ORPHA:100084
Microtia, Hearing Impairment, And Cleft Palate
Microtia, Increased incisura length, Mixed hearing impairment, Stenosis of the external auditory ... OMIM:612290
Cleft Lip With Or Without Cleft Palate
Non-midline cleft lip, Recurrent otitis media, Median cleft lip and palate, Median cleft lip, Non... ORPHA:1991
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Conductive hearing impairment ORPHA:2669
Craniodiaphyseal Dysplasia
Stenosis of the external auditory canal, Conductive hearing impairment, Optic atrophy ORPHA:1513
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Multiple Synostoses Syndrome
Conductive hearing impairment ORPHA:3237
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Stapes ankylosis, Long philtrum, Velopharyngeal insufficiency, Submucous cleft hard palate, Intes... OMIM:614701
Microtia With Meatal Atresia And Conductive Deafness
Aplasia/Hypoplasia of the middle ear, Conductive hearing impairment, Anotia, Microtia OMIM:251800
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Conductive hearing impairment, Sensorineural hearing impairment OMIM:610738
Weaver-Williams Syndrome
Cleft palate, Narrow mouth, Protruding ear ORPHA:3448
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... ORPHA:320401
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Conductive hearing impairment ORPHA:85179
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Otosclerosis 10
Otosclerosis OMIM:615589
Auriculocondylar Syndrome 2
Hypoplastic superior helix, Cleft at the superior portion of the pinna, Dental malocclusion, Mand... OMIM:614669
Multiple Synostoses Syndrome 1
Thick upper lip vermilion, Stapes ankylosis, Conductive hearing impairment, Bilateral conductive ... OMIM:186500
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Multiple Synostoses Syndrome 4
Otosclerosis OMIM:617898
Branchiootic Syndrome 1
Sensorineural hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, M... OMIM:602588
Craniometaphyseal Dysplasia
Abnormal cranial nerve morphology, Conductive hearing impairment, Sensorineural hearing impairmen... ORPHA:1522
Ciliary Dyskinesia, Primary, 33
Conductive hearing impairment, Recurrent otitis media OMIM:616726
Abruzzo-Erickson Syndrome
Cleft palate, Macrotia, Hearing impairment, Protruding ear OMIM:302905
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Everted lower lip vermilion, Tented upper lip vermilion, Cleft lip, Low-set ears,... OMIM:616898
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal peripheral action potential amplitude, Abnormality of the seventh cranial nerve ORPHA:90117
Branchiootic Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Sensorineural hearing impa... ORPHA:52429
Cleft Lip/Palate
Dental malocclusion, Conductive hearing impairment, Abnormal number of permanent teeth, Unilatera... ORPHA:199306
Klippel-Feil Syndrome 2, Autosomal Recessive
Conductive hearing impairment, Sensorineural hearing impairment, Abnormal pinna morphology OMIM:214300
Abcd Syndrome
Aganglionic megacolon, Total intestinal aganglionosis, Hearing impairment, Abnormal auditory evok... OMIM:600501
Hemifacial Microsomia With Radial Defects
Non-midline cleft lip, Conductive hearing impairment, Microtia, Orofacial cleft, Cleft palate, Sh... OMIM:141400
Familial Expansile Osteolysis
Conductive hearing impairment OMIM:174810
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Conductive hearing impairment, Microtia OMIM:248910
Treacher Collins Syndrome 4
Conductive hearing impairment OMIM:618939
Auriculocondylar Syndrome 3
Stenosis of the external auditory canal, Question mark ear, Bilateral conductive hearing impairment OMIM:615706
Branchiogenic Deafness Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear os... ORPHA:50815
Developmental And Epileptic Encephalopathy 63
Conductive hearing impairment, EEG with generalized epileptiform discharges OMIM:617976
Treacher Collins Syndrome 3
Conductive hearing impairment, Microtia OMIM:248390
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Conductive hearing impairment, Atresia of the external auditory canal OMIM:133705
Xq21 Microdeletion Syndrome
Stapes ankylosis, Conductive hearing impairment, Sensorineural hearing impairment, Dilatated inte... ORPHA:1435
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Symphalangism With Multiple Anomalies Of Hands And Feet
Conductive hearing impairment ORPHA:3246
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Congenital sensorineural hearing impairment, Mixed hearing impairment ORPHA:2698
Hypertelorism-Microtia-Facial Clefting Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Microtia ORPHA:2213
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, Microtia, Underdeveloped tragus, La... ORPHA:79113
Auriculocondylar Syndrome 1
Hypoplastic superior helix, Cleft at the superior portion of the pinna, Dental malocclusion, Mand... OMIM:602483
Craniosynostosis And Dental Anomalies
Dental malocclusion, Stapes ankylosis, Conductive hearing impairment, Narrow palate, High palate,... OMIM:614188
Ramon Syndrome
Conductive hearing impairment, Sensorineural hearing impairment ORPHA:3019
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Conductive hearing impairment OMIM:132450
Otofaciocervical Syndrome
Abnormal antihelix morphology, Macrotia, Conductive hearing impairment, Protruding ear, Atresia o... ORPHA:2792
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Bilateral conductive hearing impairment, Atresia of the external auditory canal ORPHA:2010
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Low-set ears, Conductive hearing impairment OMIM:616910
Schinzel-Giedion Syndrome
Infantile sensorineural hearing impairment, High palate, Low-set ears, Wide mouth, Delayed erupti... ORPHA:798
Diprosopus
External ear malformation, Non-midline cleft lip, Cleft palate ORPHA:1681
Oculopharyngodistal Myopathy 3
Conductive hearing impairment, Sensorineural hearing impairment OMIM:619473
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Conductive hearing impairment OMIM:618497
Cleft Palate, Deafness, And Oligodontia
Bilateral conductive hearing impairment OMIM:216300
Retinitis Pigmentosa
Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy ORPHA:791
Acrocraniofacial Dysostosis
Abnormality of the outer ear, Abnormal auditory evoked potentials, Conductive hearing impairment,... OMIM:201050
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Abnormal antihelix morphology, Conductive hearing impairment ORPHA:3145
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Atresia of the external audi... ORPHA:3236
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Atresia of the external auditory canal, Conductive hearing impairment, Microtia OMIM:300946
Alopecia Antibody Deficiency
Conductive hearing impairment ORPHA:1006
Otofaciocervical Syndrome 1
Cupped ear, Conductive hearing impairment, Mixed hearing impairment, Hypoplasia of the cochlea OMIM:166780
Abruzzo-Erickson Syndrome
Macrotia, Conductive hearing impairment, Sensorineural hearing impairment ORPHA:921
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Ciliary Dyskinesia, Primary, 38
Conductive hearing impairment, Chronic otitis media OMIM:618063
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Bor Syndrome
Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Facial palsy, Enlarged cochlea... ORPHA:107
Oculoauriculovertebral Spectrum With Radial Defects
Non-midline cleft lip, Conductive hearing impairment, Sensorineural hearing impairment, Ectopic a... ORPHA:2549
Klippel-Feil Syndrome 1, Autosomal Dominant
Conductive hearing impairment, Sensorineural hearing impairment, Hearing impairment, Mixed hearin... OMIM:118100
Congenital Myopathy 13
Low-set ears, Conductive hearing impairment OMIM:255995
Postaxial Acrofacial Dysostosis
Conductive hearing impairment, Microtia, Abnormality of the middle ear, Low-set, posteriorly rota... ORPHA:246
Osteopetrosis, Autosomal Dominant 1
Conductive hearing impairment OMIM:607634
Cleft Velum
Conductive hearing impairment, Recurrent otitis media ORPHA:99772
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Low-set ears, Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy OMIM:618672
Zechi-Ceide Syndrome
Conductive hearing impairment, Microtia, Abnormal earlobe morphology, Low-set ears, Stenosis of t... ORPHA:217017
Short Stature And Facioauriculothoracic Malformations
Cleft upper lip, High palate, Microtia, Low-set ears, Cupped ear, Overfolded helix, Cleft palate OMIM:609654
Treacher Collins Syndrome 2
Fusion of middle ear ossicles, Conductive hearing impairment, Anotia, Microtia, Cleft palate OMIM:613717
Blepharo-Cheilo-Odontic Syndrome
Conductive hearing impairment ORPHA:1997
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft palate, Sensorineural hearing impairment, Cleft lip OMIM:612370
Auriculocondylar Syndrome
Difficulty in tongue movements, Dental malocclusion, Cleft helix, Mandibular condyle hypoplasia, ... ORPHA:137888
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta, Otosclerosis, Hearing impairment OMIM:166220
Mohr-Tranebjaerg Syndrome
Postlingual sensorineural hearing impairment, Sensorineural hearing impairment, Prelingual sensor... ORPHA:52368
Mandibulofacial Dysostosis With Alopecia
Conductive hearing impairment, Microtia, Low-set ears, Stenosis of the external auditory canal, C... OMIM:616367
Branchiootorenal Syndrome 1
Conductive hearing impairment, Sensorineural hearing impairment, High palate, Incomplete partitio... OMIM:113650
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Temporal optic disc pallor, Sensorineural hearing impairment... ORPHA:1215
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Stenosis of the external auditory canal, Conductive hearing impairment, Anotia, Atresia of the ex... OMIM:608257
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Hypodontia, Bifid uvula, Cleft palate OMIM:119300
Crouzon Syndrome
Conductive hearing impairment, Hearing impairment, Optic atrophy, Narrow internal auditory canal ORPHA:207
Oculoauriculofrontonasal Syndrome
Conductive hearing impairment, Microtia ORPHA:398156
Cardiospondylocarpofacial Syndrome
Conductive hearing impairment ORPHA:3238
Tenosynovial Giant Cell Tumor
Conductive hearing impairment, Abnormality of the auditory canal, Abnormality of the tympanic mem... ORPHA:66627
Hypertelorism, Microtia, Facial Clefting Syndrome
Conductive hearing impairment, Microtia, Atresia of the external auditory canal OMIM:239800
Osteogenesis Imperfecta, Type I
Dentinogenesis imperfecta, Otosclerosis, Hearing impairment OMIM:166200
Thoracic Dysplasia-Hydrocephalus Syndrome
Conductive hearing impairment ORPHA:1861
Coffin-Siris Syndrome 6
Low-set ears, Conductive hearing impairment, Posteriorly rotated ears OMIM:617808
Cooper-Jabs Syndrome
Low-set, posteriorly rotated ears, Abnormality of the middle ear, Conductive hearing impairment, ... ORPHA:1488
Branchiogenic-Deafness Syndrome
Atresia of the external auditory canal, Sensorineural hearing impairment, Mixed hearing impairmen... OMIM:609166
Non-Functioning Paraganglioma
Pulsatile tinnitus, Paroxysmal vertigo, Conductive hearing impairment, Cranial nerve compression ORPHA:94080
Burn-Mckeown Syndrome
Conductive hearing impairment, Hearing impairment, Protruding ear OMIM:608572
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Conductive hearing impairment, Optic atrophy ORPHA:93262
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, Abnormal antitragus morphology, Apl... ORPHA:3082
Frontonasal Dysplasia 1
Low-set ears, Conductive hearing impairment OMIM:136760
Microcephaly 3, Primary, Autosomal Recessive
Sensorineural hearing impairment, Mixed hearing impairment OMIM:604804
Johnson Neuroectodermal Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Microtia, Protruding ear, ... ORPHA:2316
Acrocraniofacial Dysostosis
Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear os... ORPHA:949
Johnson Neuroectodermal Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Microtia, Protruding ear, ... OMIM:147770
Larsen-Like Syndrome
Low-set ears, Conductive hearing impairment, Recurrent otitis media OMIM:608545
Oculoskeletodental Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Hearing impairment ORPHA:557003
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Isolated Cleft Lip
Non-midline cleft lip, Supernumerary maxillary incisor, Conductive hearing impairment, Bilateral ... ORPHA:199302
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Conductive hearing impairment, Aplasia/Hypoplasia of the earlobes, Microtia, Abnormal antitragus ... ORPHA:2878
Kbg Syndrome
Bilateral conductive hearing impairment, Macrotia, EEG abnormality ORPHA:2332
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Conductive hearing impairment OMIM:601076
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
X-Linked Mandibulofacial Dysostosis
Low-set, posteriorly rotated ears, Conductive hearing impairment, Sensorineural hearing impairmen... ORPHA:1131
Phaver Syndrome
Conductive hearing impairment, Aplasia/Hypoplasia of the earlobes, Low-set ears, Overfolded helix... ORPHA:2876
Van Der Woude Syndrome 2
Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate OMIM:606713
Paragangliomas 1
Pulsatile tinnitus, Conductive hearing impairment OMIM:168000
Brachycephaly, Trichomegaly, And Developmental Delay
Low-set ears, Conductive hearing impairment, Overfolded helix OMIM:617412
Fibrodysplasia Ossificans Progressiva
Conductive hearing impairment, Sensorineural hearing impairment OMIM:135100
Agnathia-Otocephaly Complex
Synotia, Conductive hearing impairment, Low-set ears OMIM:202650
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment OMIM:619260
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Low-set ears, Bilateral conductive hearing impairment, Interictal epileptiform activity OMIM:617802
Acrootoocular Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Pseudopapilledema, Abnormal earl... ORPHA:2980
Rhyns Syndrome
Conductive hearing impairment, Sensorineural hearing impairment OMIM:602152
Van Der Woude Syndrome
Cleft upper lip, Lip pit, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Isotretinoin Embryopathy-Like Syndrome
Cleft palate, Anotia, Microtia OMIM:243440
Distal Limb Deficiencies-Micrognathia Syndrome
Low-set, posteriorly rotated ears, Conductive hearing impairment, Sensorineural hearing impairment ORPHA:1307
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Low-set ears, Conductive hearing impairment, Posteriorly rotated ears OMIM:617877
Radio-Tartaglia Syndrome
Low-set ears, Conductive hearing impairment, Hearing impairment, Large earlobe OMIM:619312
Diamond-Blackfan Anemia 10
Conductive hearing impairment, Microtia, Low-set ears, Hearing impairment, Posteriorly rotated ea... OMIM:613309
Saethre-Chotzen Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, Narrow internal auditory canal, Sen... ORPHA:794
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Sensorineural hearing impairment, Microtia, Mixed hearing impairment, Stenosis of the external au... OMIM:606164
17Q24.2 Microdeletion Syndrome
Otosclerosis, Microtia, Short philtrum, Recurrent otitis media, Thin upper lip vermilion, Progres... ORPHA:529962
19P13.12 Microdeletion Syndrome
External ear malformation, Conductive hearing impairment, Sensorineural hearing impairment, Low-s... ORPHA:254346
Lateral Meningocele Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear os... ORPHA:2789
Trichorhinophalangeal Syndrome Type 2
Low-set, posteriorly rotated ears, Conductive hearing impairment, Protruding ear ORPHA:502
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Conductive hearing impairment, Simple ear, Atresia of the external auditory canal OMIM:602471
Smith-Magenis Syndrome
Conductive hearing impairment, Chronic otitis media, EEG abnormality ORPHA:819
Mandibulofacial Dysostosis, Guion-Almeida Type
Conductive hearing impairment, Microtia, Low-set ears, Overfolded helix, Atresia of the external ... OMIM:610536
Congenital Disorder Of Glycosylation, Type Iit
Low-set ears, Conductive hearing impairment, Posteriorly rotated ears OMIM:618885
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... ORPHA:206443
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Congenital Disorder Of Glycosylation, Type Iig
Conductive hearing impairment, Microtia, Cholesteatoma, Low-set ears, Stenosis of the external au... OMIM:611209
Marshall-Smith Syndrome
Conductive hearing impairment, Optic atrophy ORPHA:561
Generalized Arterial Calcification Of Infancy
Stapes ankylosis, Conductive hearing impairment, Sensorineural hearing impairment, Mixed hearing ... ORPHA:51608
Crouzon Syndrome
Conductive hearing impairment, Optic atrophy, Atresia of the external auditory canal OMIM:123500
Osteogenesis Imperfecta, Type Xvi
Conductive hearing impairment, Hearing impairment OMIM:616229
Chromosome 18Q Deletion Syndrome
Macrotia, Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Stenosi... OMIM:601808
Fanconi Anemia, Complementation Group I
Conductive hearing impairment, Optic nerve hypoplasia OMIM:609053
Carpenter Syndrome 1
Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Abnormal pinna mo... OMIM:201000
Robinow Syndrome, Autosomal Dominant 2
Conductive hearing impairment, Sensorineural hearing impairment, Hearing impairment, Mixed hearin... OMIM:616331
Primary Ciliary Dyskinesia
Conductive hearing impairment, Chronic otitis media, Hearing impairment, Recurrent otitis media ORPHA:244
Ciliary Dyskinesia, Primary, 1
Conductive hearing impairment, Chronic otitis media OMIM:244400
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Stenosis of the external auditory canal, Conductive hearing impairment, Microtia OMIM:171480
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pulsatile tinnitus, Paroxysmal vertigo, Conductive hearing impairment, Cranial nerve compression ORPHA:276621
Stickler Syndrome, Type I
Conductive hearing impairment, Sensorineural hearing impairment OMIM:108300
Kniest Dysplasia
Conductive hearing impairment, Recurrent otitis media OMIM:156550
Calvarial Doughnut Lesions With Bone Fragility
Mixed hearing impairment OMIM:126550
Osteopathia Striata-Cranial Sclerosis Syndrome
Low-set ears, Conductive hearing impairment, Posteriorly rotated ears, Facial palsy ORPHA:2780
Mucopolysaccharidosis Type 2
Conductive hearing impairment, Sensorineural hearing impairment, Otosclerosis, Optic atrophy, Mac... ORPHA:580
Sotos Syndrome
Macrotia, Conductive hearing impairment, Otitis media, Low-set ears, Posteriorly rotated ears OMIM:117550
Waardenburg Syndrome
Aganglionic megacolon, Conductive hearing impairment, Hearing impairment ORPHA:3440
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Distal Monosomy 19P13.3
Low-set, posteriorly rotated ears, Conductive hearing impairment, Sensorineural hearing impairment ORPHA:96129
Mucopolysaccharidosis Type 2, Severe Form
Conductive hearing impairment, Sensorineural hearing impairment, Otosclerosis, Optic atrophy, Abn... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Conductive hearing impairment, Sensorineural hearing impairment, Otosclerosis, Optic atrophy, Abn... ORPHA:217093
Branchio-Oculo-Facial Syndrome
Low-set, posteriorly rotated ears, Conductive hearing impairment, Abnormal pinna morphology ORPHA:1297
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Conductive hearing impairment, Atresia of the external auditory canal OMIM:106260
Craniometaphyseal Dysplasia, Autosomal Recessive
Mixed hearing impairment, Optic atrophy, Facial palsy OMIM:218400
Van Maldergem Syndrome 2
Conductive hearing impairment, Sensorineural hearing impairment, Microtia, Stenosis of the extern... OMIM:615546
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Hennekam-Beemer Syndrome
Conductive hearing impairment, Hearing impairment, Optic atrophy, Microtia ORPHA:2135
Down Syndrome
Aganglionic megacolon, Conductive hearing impairment, Round ear ORPHA:870
Gorlin-Chaudhry-Moss Syndrome
Conductive hearing impairment ORPHA:2095
Craniometaphyseal Dysplasia, Autosomal Dominant
Mixed hearing impairment, Facial palsy OMIM:123000
Lateral Meningocele Syndrome
Low-set ears, Conductive hearing impairment, Posteriorly rotated ears, Abnormality of the middle ... OMIM:130720
Proximal 16P11.2 Microdeletion Syndrome
Conductive hearing impairment, Sensorineural hearing impairment ORPHA:261197
Giant Cell Arteritis
Conductive hearing impairment, Hearing impairment, Optic atrophy, Vertigo ORPHA:397
Van Maldergem Syndrome 1
Conductive hearing impairment, Sensorineural hearing impairment, Microtia, Atresia of the externa... OMIM:601390
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... ORPHA:101085
Multiple Pterygium-Malignant Hyperthermia Syndrome
Conductive hearing impairment, Posteriorly rotated ears ORPHA:2215
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Kapur-Toriello Syndrome
Low-set ears, Conductive hearing impairment OMIM:244300
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Hearing impa... ORPHA:206436
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito... ORPHA:99027
Otopalatodigital Syndrome, Type I
Conductive hearing impairment OMIM:311300
Apert Syndrome
Morphological abnormality of the semicircular canal, Conductive hearing impairment, Sensorineural... ORPHA:87
2Q37 Microdeletion Syndrome
Conductive hearing impairment ORPHA:1001
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Optic disc coloboma, Sensorineural hearing impairment, Lop ear, Mixed hearing impairment, Low-set... OMIM:300472
Autosomal Recessive Multiple Pterygium Syndrome
Hearing abnormality, Low-set ears, Conductive hearing impairment, Hearing impairment ORPHA:2990
Immunodeficiency 23
Conductive hearing impairment, Sensorineural hearing impairment OMIM:615816
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Thickened helices, Low-set ears, Overfolded helix, Mixed hearing impairment OMIM:608624
Hereditary Pheochromocytoma-Paraganglioma
Pulsatile tinnitus, Paroxysmal vertigo, Conductive hearing impairment, Cranial nerve compression ORPHA:29072
Postaxial Acrofacial Dysostosis
Cupped ear, Low-set ears, Conductive hearing impairment OMIM:263750
Mucopolysaccharidosis Type 3
Conductive hearing impairment, Sensorineural hearing impairment, Thickened helices, Abnormality o... ORPHA:581
Paget Disease Of Bone 2, Early-Onset
Bilateral conductive hearing impairment OMIM:602080
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Aganglionic megac... OMIM:609136
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Low-set ears, Conductive hearing impairment, Sensorineural hearing impairment OMIM:235510
Oculodentodigital Dysplasia
Conductive hearing impairment, Optic atrophy, Abnormality of the ear, External ear malformation, ... ORPHA:2710
Brittle Cornea Syndrome
Conductive hearing impairment, Sensorineural hearing impairment ORPHA:90354
Developmental Delay, Hypotonia, And Impaired Language
Mixed hearing impairment OMIM:620012
Pgm3-Cdg
Conductive hearing impairment, Sensorineural hearing impairment, Mild neurosensory hearing impair... ORPHA:443811
Achondroplasia
Conductive hearing impairment, Recurrent otitis media OMIM:100800
Cockayne Syndrome Type 1
Macrotia, Abnormality of peripheral nerve conduction, Optic atrophy, Absent brainstem auditory re... ORPHA:90321
Shprintzen-Goldberg Craniosynostosis Syndrome
Low-set ears, Conductive hearing impairment, Abnormal pinna morphology, Posteriorly rotated ears OMIM:182212
Cerebrofacioarticular Syndrome
Conductive hearing impairment, Microtia ORPHA:314679
Trisomy 10P
Macrotia, Low voltage EEG, EEG with burst suppression, EEG with focal spikes, Abnormal auditory e... ORPHA:171929
Branchiooculofacial Syndrome
Hypoplastic superior helix, Fusion of middle ear ossicles, Cleft upper lip, Conductive hearing im... OMIM:113620
Cardiospondylocarpofacial Syndrome
Fusion of middle ear ossicles, Conductive hearing impairment, Long philtrum, Wide mouth, Enlarged... OMIM:157800
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Conductive hearing impairment, Recurrent otitis media OMIM:250420
Cornelia De Lange Syndrome 1
Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Otitis media, Abn... OMIM:122470
Fanconi Anemia, Complementation Group F
Conductive hearing impairment, Microtia OMIM:603467
Shprintzen-Goldberg Syndrome
Low-set ears, Conductive hearing impairment, Protruding ear, Posteriorly rotated ears ORPHA:2462
Larsen Syndrome
Conductive hearing impairment ORPHA:503
Beckwith-Wiedemann Syndrome
Otosclerosis, Large intestinal polyposis, Wide mouth, Macroglossia, Abnormal earlobe morphology, ... ORPHA:116
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Conductive hearing impairment, Mixed hearing impairment, High-frequency sensorineural hearing imp... OMIM:614557
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Frontorhiny
Low-set, posteriorly rotated ears, Congenital conductive hearing impairment ORPHA:391474
Meier-Gorlin Syndrome 6
Stenosis of the external auditory canal, Conductive hearing impairment, Posteriorly rotated ears,... OMIM:616835
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Low-set ears, Cupped ear, Mixed hearing impairment OMIM:615560
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Conductive hearing impairment, Sensorineural hearing impairment, Overfolded helix, Mixed hearing ... OMIM:300990
Mohr Syndrome
Conductive hearing impairment OMIM:252100
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Prominent antihelix, Abnormality... ORPHA:466943
Orofaciodigital Syndrome Type 6
Low-set, posteriorly rotated ears, Conductive hearing impairment ORPHA:2754
Codas Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Crumpled ear OMIM:600373
Orofaciodigital Syndrome Vi
Low-set ears, Conductive hearing impairment, Posteriorly rotated ears OMIM:277170
Osteopathia Striata With Cranial Sclerosis
Conductive hearing impairment, Microtia, Low-set ears, Overfolded helix, Posteriorly rotated ears... OMIM:300373
Leukocyte Adhesion Deficiency Type Ii
Small earlobe, Conductive hearing impairment, Recurrent otitis media, Microtia ORPHA:99843
Cerebrooculonasal Syndrome
Low-set ears, Conductive hearing impairment, Posteriorly rotated ears, Optic nerve hypoplasia OMIM:605627
Monosomy 18Q
Bilateral conductive hearing impairment, Macrotia, Sensorineural hearing impairment ORPHA:1600
Baller-Gerold Syndrome
Conductive hearing impairment ORPHA:1225
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Mixed hearing impairment ORPHA:309288
Kabuki Syndrome
Macrotia, Sensorineural hearing impairment, Conductive hearing impairment, EEG abnormality, Protr... ORPHA:2322
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Conductive hearing impairment, Overfolded helix OMIM:280000
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Low-set ears, Conductive hearing impairment, Sensorineural hearing impairment, Microtia OMIM:618500
Frontometaphyseal Dysplasia
Conductive hearing impairment, Sensorineural hearing impairment, Hearing impairment, Mixed hearin... ORPHA:1826
Acro-Renal-Ocular Syndrome
Optic disc coloboma, Aganglionic megacolon, Conductive hearing impairment, Sensorineural hearing ... ORPHA:959
Multiple Pterygium Syndrome, Escobar Variant
Low-set ears, Conductive hearing impairment, Exostosis of the external auditory canal OMIM:265000
Bosma Arhinia Microphthalmia Syndrome
Absent tragus, Conductive hearing impairment, Abnormal pinna morphology, Atresia of the external ... OMIM:603457
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Sensorineural hearing impairment, Mixed hearing impairment OMIM:215150
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Thickened ears, Mixed hearing im... ORPHA:444077
Warburg-Cinotti Syndrome
Conductive hearing impairment, Cholesteatoma, Hypoplasia of the ear cartilage, Low-set ears, Post... OMIM:618175
Cockayne Syndrome Type 3
Macrotia, Conductive hearing impairment, Abnormality of peripheral nerve conduction, Adult onset ... ORPHA:90324
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Conductive hearing impairment, Recurrent otitis media ORPHA:2502
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potential... ORPHA:909
Feingold Syndrome Type 1
Conductive hearing impairment, Sensorineural hearing impairment ORPHA:391641
3Mc Syndrome 1
Conductive hearing impairment, Hearing impairment OMIM:257920
Trisomy 8P
Aplasia/Hypoplasia of the tragus, Conductive hearing impairment, Morphological abnormality of the... ORPHA:264450
Mucolipidosis Type Ii
Conductive hearing impairment, Sensorineural hearing impairment, Otitis media ORPHA:576
Cerebrocostomandibular Syndrome
Conductive hearing impairment, Atresia of the external auditory canal ORPHA:1393
Frontometaphyseal Dysplasia 2
Low-set ears, Conductive hearing impairment, Sensorineural hearing impairment, Abnormal pinna mor... OMIM:617137
Treacher-Collins Syndrome
Abnormality of the middle ear, Conductive hearing impairment, Narrow internal auditory canal, Mic... ORPHA:861
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal antihelix morphology, Conductive hearing impairment, Abnormal earlobe morphology, Abnorm... ORPHA:95699
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Conductive hearing impairment, Sensorineural hearing impairment, Protruding ear, Optic nerve hypo... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Conductive hearing impairment, Sensorineural hearing impairment, Protruding ear, Optic nerve hypo... ORPHA:352665
Kyphoscoliotic Ehlers-Danlos Syndrome
Low-set ears, Conductive hearing impairment, Sensorineural hearing impairment, Hearing impairment ORPHA:536545
Oculodentodigital Dysplasia
Conductive hearing impairment, Abnormal pinna morphology OMIM:164200
Marshall-Smith Syndrome
Bilateral conductive hearing impairment, Cholesteatoma, Optic nerve hypoplasia, Overfolded helix,... OMIM:602535
Cockayne Syndrome B
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Decreased n... OMIM:133540
Cockayne Syndrome A
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Decreased n... OMIM:216400
Acrofacial Dysostosis 1, Nager Type
Conductive hearing impairment, Aganglionic megacolon, Low-set ears, Posteriorly rotated ears, Atr... OMIM:154400
Hunter-Macdonald Syndrome
Conductive hearing impairment, Sensorineural hearing impairment OMIM:611962
Larsen Syndrome
Conductive hearing impairment, Hearing impairment OMIM:150250
Leprosy
Abnormal autonomic nervous system physiology, Abnormality of the seventh cranial nerve, Enlarged ... ORPHA:548
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Conductive hearing impairment, Protruding ear ORPHA:1071
22Q11.2 Deletion Syndrome
Small earlobe, Conductive hearing impairment, Optic atrophy, Aganglionic megacolon, Chronic otiti... ORPHA:567
Orofaciodigital Syndrome Type 4
Conductive hearing impairment, Microtia, third degree, Abnormality of the ear, Abnormality of the... ORPHA:2753
Hennekam Syndrome
External ear malformation, Conductive hearing impairment, Low-set ears ORPHA:2136
Hajdu-Cheney Syndrome
Low-set ears, Conductive hearing impairment, Large earlobe OMIM:102500
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Bilateral conductive hearing impairment, Hearing impairment ORPHA:488642
Native American Myopathy
Conductive hearing impairment ORPHA:168572
Pycnodysostosis
Mild conductive hearing impairment ORPHA:763
Faundes-Banka Syndrome
Conductive hearing impairment, Microtia, Long ear, Low-set ears, Cupped ear OMIM:619376
Lathosterolosis
Conductive hearing impairment OMIM:607330
Osteopetrosis With Renal Tubular Acidosis
Macrotia, Conductive hearing impairment, Cranial nerve compression, Optic atrophy ORPHA:2785
Treacher Collins Syndrome 1
Conductive hearing impairment, Microtia, Atresia of the external auditory canal OMIM:154500
Lacrimoauriculodentodigital Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Microtia, Mixed hearing impairme... ORPHA:2363
Chromosome 1P36 Deletion Syndrome, Distal
Conductive hearing impairment, Sensorineural hearing impairment, Thickened helices, Microtia, Opt... OMIM:607872
Fraser Syndrome 1
Hypoplastic superior helix, Conductive hearing impairment, Abnormal pinna morphology, Low-set ear... OMIM:219000
15Q Overgrowth Syndrome
Abnormality of the outer ear, Mixed hearing impairment, Low-set, posteriorly rotated ears, Low-se... ORPHA:314585
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears ORPHA:401973
Cardiac-Valvular Ehlers-Danlos Syndrome
Severe conductive hearing impairment ORPHA:230851
Turnpenny-Fry Syndrome
Low-set ears, Conductive hearing impairment, Satyr ear, Microtia OMIM:618371
1P36 Deletion Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, EEG abnormality, Microtia, Optic... ORPHA:1606
Down Syndrome
Aganglionic megacolon, Conductive hearing impairment, Microtia OMIM:190685
Campomelic Dysplasia
Low-set ears, Conductive hearing impairment, Hearing impairment OMIM:114290
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Low-set, posteriorly rotated ears, Conductive hearing impairment ORPHA:306542
Distal Monosomy 12Q
Prominent ear helix, Bilateral conductive hearing impairment, Low-set ears, Microtia ORPHA:96149
Raine Syndrome
Posteriorly rotated ears, Abnormal pinna morphology, Mixed hearing impairment, Low-set ears, Prot... OMIM:259775
Cerebrocostomandibular Syndrome
Low-set ears, Conductive hearing impairment, Posteriorly rotated ears OMIM:117650
Baller-Gerold Syndrome
Conductive hearing impairment, Optic atrophy, Optic nerve hypoplasia, Mixed hearing impairment, L... OMIM:218600
Wolf-Hirschhorn Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, EEG abnormality, Abnormal pinna ... OMIM:194190
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Calcification of the auricular cartilage, Macrotia, Conductive hearing impairment ORPHA:3042
Brachytelephalangic Chondrodysplasia Punctata
Mixed hearing impairment, Optic nerve hypoplasia ORPHA:79345
Fontaine Progeroid Syndrome
Low-set ears, Conductive hearing impairment, Posteriorly rotated ears OMIM:612289
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Conductive hearing impairment, Sensorineural hearing impairment, Otitis media, EEG abnormality ORPHA:353281
Degcags Syndrome
Macrotia, Sensorineural hearing impairment, Unilateral conductive hearing impairment, Low-set ear... OMIM:619488
Fraser Syndrome
Conductive hearing impairment, Abnormality of the middle ear, External ear malformation, Low-set,... ORPHA:2052
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Conductive hearing impairment, Microtia OMIM:129900
Floating-Harbor Syndrome
Recurrent otitis media, Low-set ears, Conductive hearing impairment, Posteriorly rotated ears OMIM:136140
Alpha-Mannosidosis, Infantile Form
Optic disc pallor, Sensorineural hearing impairment, Otitis media, Mixed hearing impairment ORPHA:309282
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Mixed hearing impairment, Low-set ears, Peripapillary atrophy, Posteriorly rotated ears ORPHA:536467
Hutchinson-Gilford Progeria Syndrome
Low-frequency sensorineural hearing impairment, Conductive hearing impairment, Prominent ear heli... ORPHA:740
Cornelia De Lange Syndrome
Macrotia, Conductive hearing impairment, Sensorineural hearing impairment, Low-set, posteriorly r... ORPHA:199
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Conductive hearing impairment, Sensorineural hearing impairment, EEG abnormality, Otitis media, L... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Conductive hearing impairment, Sensorineural hearing impairment, EEG abnormality, Otitis media, L... ORPHA:353277
Acrofrontofacionasal Dysostosis 1
Mixed hearing impairment, Optic atrophy OMIM:201180
Orofaciodigital Syndrome Type 2
Conductive hearing impairment, Protruding ear ORPHA:2751
Pseudoaminopterin Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of the antihelix, Mild conductive hearing impairmen... ORPHA:221120
Floating-Harbor Syndrome
Low-set ears, Conductive hearing impairment, Cochlear malformation ORPHA:2044
Peters Plus Syndrome
Low-set, posteriorly rotated ears, Microtia, second degree, Conductive hearing impairment, Optic ... ORPHA:709
Spondylocarpotarsal Synostosis Syndrome
Sensorineural hearing impairment, Mixed hearing impairment OMIM:272460
Otopalatodigital Syndrome, Type Ii
Low-set ears, Conductive hearing impairment, Posteriorly rotated ears OMIM:304120
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Low-set ears, Conductive hearing impairment, Simple ear OMIM:201750
Sotos Syndrome
Conductive hearing impairment, Aganglionic megacolon, Cholesteatoma, Hearing impairment, Chronic ... ORPHA:821
Branchioskeletogenital Syndrome
Mixed hearing impairment, Attached earlobe, Large earlobe ORPHA:1299
Mowat-Wilson Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Aganglionic megacolon, Recurrent... ORPHA:2152
Robinow Syndrome
Mixed hearing impairment, Low-set ears, Posteriorly rotated ears ORPHA:97360
Craniofacial Microsomia
Conductive hearing impairment, Sensorineural hearing impairment, Anotia, Microtia, Underdeveloped... OMIM:164210
Osteogenesis Imperfecta
Progressive hearing impairment, Hearing impairment, Mixed hearing impairment ORPHA:666
Focal Dermal Hypoplasia
Low-set ears, Stenosis of the external auditory canal, Optic atrophy, Mixed hearing impairment OMIM:305600
Charge Syndrome
Sensorineural hearing impairment, Microtia, Aplasia of the semicircular canal, Lop ear, Mixed hea... OMIM:214800
Lacrimoauriculodentodigital Syndrome 1
Cupped ear, Hearing impairment, Mixed hearing impairment, Microtia OMIM:149730

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 Dlx1

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 Dlx1.

No publications found that use IMPC mice or data for Dlx1.

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MGI Allele Allele Type Produced
Dlx1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells

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