banner
Genes Phenotypes Help, News, Blog

Gene: Dlx1 MGI:94901

Log in to follow
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
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absence of acoustic reflex, Absent brainstem auditory responses OMIM:601071
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormal antihelix morphology, Aplasia/Hypoplasia of the earlobes, Abnormal pinna morphology, Fac... ORPHA:3232
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Abnormal vestibular function, Absent brainstem audit... OMIM:616515
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Absent stapes head, Abnormal pinna morphology, Bilateral conductive hearing impairment, Abnormali... OMIM:128980
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
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
Non-Syndromic Genetic Deafness
Abnormal vestibulo-ocular reflex, Postlingual sensorineural hearing impairment, Prelingual sensor... ORPHA:87884
Atresia Of External Auditory Canal And Conductive Deafness
Atresia of the external auditory canal, Stenosis of the external auditory canal, Conductive heari... OMIM:108760
Deafness, X-Linked 2
Mixed hearing impairment, Conductive hearing impairment, Congenital sensorineural hearing impairm... OMIM:304400
Otosclerosis 7
Childhood onset sensorineural hearing impairment, Otosclerosis, Progressive hearing impairment, A... OMIM:611572
Deafness, Autosomal Dominant 23
Sensorineural hearing impairment, Conductive hearing impairment OMIM:605192
Conductive Deafness-Malformed External Ear Syndrome
Stenosis of the external auditory canal, Abnormal pinna morphology, Sensorineural hearing impairm... ORPHA:3216
Otosclerosis 11
Otosclerosis, Sensorineural hearing impairment, Absence of acoustic reflex, Conductive hearing im... OMIM:620576
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Progressive sensorineural hearing impairment, Abnorma... ORPHA:90646
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Aural Atresia, Congenital
Atresia of the external auditory canal, Conductive hearing impairment OMIM:607842
Deafness, Autosomal Recessive 88
Mixed hearing impairment OMIM:615429
Stapes Ankylosis With Broad Thumbs And Toes
Conductive hearing impairment, Stapes ankylosis, Congenital stapes ankylosis OMIM:184460
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Symphalangism, Proximal, 1A
Conductive hearing impairment, Stapes ankylosis OMIM:185800
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Chronic otitis media, Conductive hearing impairment, Atresia of the external auditory canal OMIM:221320
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Chromosome Xq21 Deletion Syndrome
Hearing impairment, Conductive hearing impairment, Progressive sensorineural hearing impairment, ... OMIM:303110
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Conductive hearing impairment ORPHA:2669
Middle Ear Neuroendocrine Tumor
Unilateral conductive hearing impairment, Sensorineural hearing impairment, Abnormal auditory can... ORPHA:100084
Microtia, Hearing Impairment, And Cleft Palate
Mixed hearing impairment, Stenosis of the external auditory canal, Microtia, Increased incisura l... OMIM:612290
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... ORPHA:320401
Craniodiaphyseal Dysplasia
Optic atrophy, Stenosis of the external auditory canal, Conductive hearing impairment ORPHA:1513
Multiple Synostoses Syndrome
Conductive hearing impairment ORPHA:3237
Otosclerosis 8
Hearing impairment, Otosclerosis OMIM:612096
Otosclerosis 3
Hearing impairment, Otosclerosis OMIM:608244
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin vermilion border, Low-set ears, Intestinal malrotation, Velopharyngeal insufficiency, Cleft ... OMIM:614701
Microtia With Meatal Atresia And Conductive Deafness
Conductive hearing impairment, Microtia, Anotia, Aplasia/Hypoplasia of the middle ear OMIM:251800
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Sensorineural hearing impairment, Conductive hearing impairment OMIM:610738
Weaver-Williams Syndrome
Protruding ear, Cleft palate, Narrow mouth ORPHA:3448
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal seventh cranial physiology, Lower cranial nerve dysfunction, Abnormal cranial nerve phys... ORPHA:90117
Mullegama-Klein-Martinez Syndrome
Absent stapes, Short philtrum, Sensorineural hearing impairment, Microtia, Low-set ears, Facial p... OMIM:301022
Auriculocondylar Syndrome 4
Glossoptosis, Narrow mouth, Question mark ear, Hearing impairment, Cleft palate OMIM:620457
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Conductive hearing impairment ORPHA:85179
Cleft Lip/Palate
Orofacial cleft, Recurrent otitis media, Abnormal number of permanent teeth, Palate fistula, Bila... ORPHA:199306
Auriculocondylar Syndrome 2A
Short mandibular rami, Stenosis of the external auditory canal, Dental crowding, Mandibular condy... OMIM:614669
Craniofacial Microsomia 2
Microtia, Microtia, third degree, Microtia, second degree, Submucous cleft palate, Microtia, firs... OMIM:620444
Otosclerosis 10
Otosclerosis OMIM:615589
Microtia
Hypoplastic helices, Unilateral conductive hearing impairment, Microtia, Abnormal pinna morpholog... ORPHA:83463
Ciliary Dyskinesia, Primary, 33
Conductive hearing impairment, Recurrent otitis media OMIM:616726
Multiple Synostoses Syndrome 1
Short philtrum, Bilateral conductive hearing impairment, Conductive hearing impairment, Asymmetry... OMIM:186500
Branchiootic Syndrome 1
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Cochlear malf... OMIM:602588
Multiple Synostoses Syndrome 4
Otosclerosis OMIM:617898
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Craniometaphyseal Dysplasia
Abnormal cranial nerve morphology, Sensorineural hearing impairment, Conductive hearing impairmen... ORPHA:1522
Abruzzo-Erickson Syndrome
Hearing impairment, Macrotia, Protruding ear, Cleft palate OMIM:302905
X-Linked Intellectual Disability, Abidi Type
Hearing impairment, Non-midline cleft of the upper lip, Protruding ear, Cleft palate ORPHA:85273
Branchiootic Syndrome
Abnormal middle ear morphology, Abnormality of the inner ear, Sensorineural hearing impairment, F... ORPHA:52429
Hemifacial Microsomia With Radial Defects
Short mandibular rami, Orofacial cleft, Non-midline cleft of the upper lip, Microtia, Atresia of ... OMIM:141400
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Xq21 Microdeletion Syndrome
Optic atrophy, Sensorineural hearing impairment, Abnormal cochlea morphology, Bilateral sensorine... ORPHA:1435
Klippel-Feil Syndrome 2, Autosomal Recessive
Sensorineural hearing impairment, Abnormal pinna morphology, Conductive hearing impairment OMIM:214300
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Aplasia/Hypoplasia of the inner ear, Sensorineural hearing impairment, ... ORPHA:50815
Familial Expansile Osteolysis
Conductive hearing impairment OMIM:174810
Developmental And Epileptic Encephalopathy 63
Conductive hearing impairment, EEG with generalized epileptiform discharges OMIM:617976
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Low-set ears, Everted lower lip vermilion, Cleft palate, Posteriorly rotated ears... OMIM:616898
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Conductive hearing impairment, Microtia OMIM:248910
Auriculocondylar Syndrome 3
Stenosis of the external auditory canal, Bilateral conductive hearing impairment, Question mark ear OMIM:615706
Treacher Collins Syndrome 4
Conductive hearing impairment OMIM:618939
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Atresia of the external auditory canal, Conductive hearing impairment OMIM:133705
Treacher Collins Syndrome 3
Conductive hearing impairment, Microtia OMIM:248390
Cleft Palate, Deafness, And Oligodontia
Bilateral conductive hearing impairment OMIM:216300
Symphalangism With Multiple Anomalies Of Hands And Feet
Conductive hearing impairment ORPHA:3246
Auriculocondylar Syndrome 1
Anterior open-bite malocclusion, Stenosis of the external auditory canal, Dental crowding, Mandib... OMIM:602483
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormal middle ear morphology, Abnormal antihelix morphology, Microtia, Underdeveloped tragus, A... ORPHA:79113
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Mixed hearing impairment, Congenital sensorineural hearing impairment ORPHA:2698
Hypertelorism-Microtia-Facial Clefting Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Microtia ORPHA:2213
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Conductive hearing impairment, Recurrent otitis media, Low-set ears OMIM:616910
Cleft Velum
Conductive hearing impairment, Recurrent otitis media ORPHA:99772
Craniosynostosis And Dental Anomalies
Chronic otitis media, Narrow palate, Supernumerary tooth, Absent malleus, Delayed eruption of tee... OMIM:614188
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, EEG abnormality, Facial palsy, Absent brainstem auditory responses OMIM:617519
Ramon Syndrome
Sensorineural hearing impairment, Conductive hearing impairment ORPHA:3019
Otofaciocervical Syndrome
Abnormal antihelix morphology, Atresia of the external auditory canal, Macrotia, Conductive heari... ORPHA:2792
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Conductive hearing impairment OMIM:132450
Ciliary Dyskinesia, Primary, 38
Chronic otitis media, Conductive hearing impairment OMIM:618063
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Conductive hearing impairment OMIM:618497
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Atresia of the external auditory canal, Bilateral conductive hearing impairment ORPHA:2010
Oculopharyngodistal Myopathy 3
Sensorineural hearing impairment, Conductive hearing impairment OMIM:619473
Schinzel-Giedion Syndrome
Aganglionic megacolon, Short philtrum, Delayed eruption of teeth, Broad alveolar ridges, Abnormal... ORPHA:798
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Atresia of the external auditory canal, Conductive hearing impairment, Microtia OMIM:300946
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Aplasia/Hypoplasia of the ... ORPHA:3236
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Abnormal antihelix morphology, Conductive hearing impairment ORPHA:3145
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Otofaciocervical Syndrome 1
Conductive hearing impairment, Mixed hearing impairment, Cupped ear, Hypoplasia of the cochlea OMIM:166780
Alopecia Antibody Deficiency
Conductive hearing impairment ORPHA:1006
Abruzzo-Erickson Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Macrotia ORPHA:921
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Diprosopus
Non-midline cleft of the upper lip, Abnormal pinna morphology, Cleft palate ORPHA:1681
Bor Syndrome
Stenosis of the external auditory canal, Abnormal pinna morphology, Facial palsy, Abnormality of ... ORPHA:107
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Abnormal cranial nerve morphology, Fa... OMIM:601596
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Oculoauriculovertebral Spectrum With Radial Defects
Short mandibular rami, Orofacial cleft, Abnormality of the inner ear, Sensorineural hearing impai... ORPHA:2549
Klippel-Feil Syndrome 1, Autosomal Dominant
Hearing impairment, Sensorineural hearing impairment, Mixed hearing impairment, Conductive hearin... OMIM:118100
Postaxial Acrofacial Dysostosis
Low-set, posteriorly rotated ears, Microtia, Abnormality of the middle ear, Conductive hearing im... ORPHA:246
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Optic atrophy, Sensorineural hearing impairment, Conductive hearing impairment, Low-set ears OMIM:618672
Zechi-Ceide Syndrome
Abnormal earlobe morphology, Stenosis of the external auditory canal, Abnormal helix morphology, ... ORPHA:217017
Short Stature And Facioauriculothoracic Malformations
Microtia, High palate, Low-set ears, Cleft upper lip, Cleft palate, Overfolded helix, Cupped ear OMIM:609654
Branchiootorenal Syndrome 1
Mixed hearing impairment, Incomplete partition of the cochlea type II, Hypoplasia of the cochlea,... OMIM:113650
Treacher Collins Syndrome 2
Microtia, Fusion of middle ear ossicles, Conductive hearing impairment, Cleft palate, Anotia OMIM:613717
Blepharo-Cheilo-Odontic Syndrome
Conductive hearing impairment ORPHA:1997
Mandibulofacial Dysostosis With Alopecia
Stenosis of the external auditory canal, Microtia, Low-set ears, Conductive hearing impairment, P... OMIM:616367
Osteogenesis Imperfecta, Type Iv
Hearing impairment, Otosclerosis, Dentinogenesis imperfecta OMIM:166220
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Atresia of the external auditory canal, Stenosis of the external auditory canal, Conductive heari... OMIM:608257
Crouzon Syndrome
Hearing impairment, Conductive hearing impairment, Optic atrophy, Narrow internal auditory canal ORPHA:207
Osteopetrosis, Autosomal Dominant 1
Conductive hearing impairment OMIM:607634
Oculoauriculofrontonasal Syndrome
Conductive hearing impairment, Microtia ORPHA:398156
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Van Der Woude Syndrome 1
Cleft upper lip, Bifid uvula, Cleft palate, Hypodontia, Lower lip pit OMIM:119300
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Sensorineural hearing impairment, Cleft lip, Cleft palate OMIM:612370
Cardiospondylocarpofacial Syndrome
Conductive hearing impairment ORPHA:3238
Auriculocondylar Syndrome
Aplasia/Hypoplasia of the external ear, Low-set, posteriorly rotated ears, Dental crowding, Abnor... ORPHA:137888
Coffin-Siris Syndrome 6
Low-set ears, Conductive hearing impairment, Posteriorly rotated ears OMIM:617808
Thoracic Dysplasia-Hydrocephalus Syndrome
Conductive hearing impairment ORPHA:1861
Non-Functioning Paraganglioma
Conductive hearing impairment, Cranial nerve compression, Paroxysmal vertigo, Pulsatile tinnitus ORPHA:94080
Hypertelorism, Microtia, Facial Clefting Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Microtia OMIM:239800
Branchiogenic-Deafness Syndrome
Atresia of the external auditory canal, Sensorineural hearing impairment, Mixed hearing impairmen... OMIM:609166
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response conduction ... OMIM:610532
Cooper-Jabs Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Abnormality of the middle ... ORPHA:1488
Burn-Mckeown Syndrome
Hearing impairment, Conductive hearing impairment, Protruding ear OMIM:608572
Joubert Syndrome 10
Conductive hearing impairment, Low-set ears OMIM:300804
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Optic atrophy, Conductive hearing impairment ORPHA:93262
Anophthalmia Plus Syndrome
Tessier cleft, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Non-midline... ORPHA:1104
Osteogenesis Imperfecta, Type I
Hearing impairment, Otosclerosis, Dentinogenesis imperfecta OMIM:166200
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of the earlobes, Conductive hearing impairment, Abnormal antihelix morphology,... ORPHA:3082
Frontonasal Dysplasia 1
Conductive hearing impairment, Low-set ears OMIM:136760
Microcephaly 3, Primary, Autosomal Recessive
Sensorineural hearing impairment, Mixed hearing impairment OMIM:604804
Acrocraniofacial Dysostosis
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Abnormal pinna morphology, A... ORPHA:949
Oculoskeletodental Syndrome
Hearing impairment, Sensorineural hearing impairment, Conductive hearing impairment ORPHA:557003
Larsen-Like Syndrome
Conductive hearing impairment, Recurrent otitis media, Low-set ears OMIM:608545
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Johnson Neuroectodermal Syndrome
Microtia, Facial palsy, Atresia of the external auditory canal, Conductive hearing impairment, Pr... ORPHA:2316
Kbg Syndrome
Macrotia, EEG abnormality, Bilateral conductive hearing impairment ORPHA:2332
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the earlobes, Stenosis of the external auditory canal, Microtia, Abnormal a... ORPHA:2878
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Conductive hearing impairment OMIM:601076
Phaver Syndrome
Aplasia/Hypoplasia of the earlobes, Low-set ears, Conductive hearing impairment, Posteriorly rota... ORPHA:2876
X-Linked Mandibulofacial Dysostosis
Protruding ear, Sensorineural hearing impairment, Conductive hearing impairment, Low-set, posteri... ORPHA:1131
Agnathia-Otocephaly Complex
Synotia, Conductive hearing impairment, Low-set ears OMIM:202650
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic disc pallor OMIM:619260
Pheochromocytoma/Paraganglioma Syndrome 1
Conductive hearing impairment, Pulsatile tinnitus OMIM:168000
17Q24.2 Microdeletion Syndrome
Recurrent otitis media, Short philtrum, Tooth malposition, Otosclerosis, Microtia, Thin upper lip... ORPHA:529962
Van Der Woude Syndrome 2
Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit OMIM:606713
Brachycephaly, Trichomegaly, And Developmental Delay
Conductive hearing impairment, Low-set ears, Overfolded helix OMIM:617412
Fibrodysplasia Ossificans Progressiva
Sensorineural hearing impairment, Conductive hearing impairment OMIM:135100
Acrootoocular Syndrome
Abnormal earlobe morphology, Sensorineural hearing impairment, Low-set ears, Atresia of the exter... ORPHA:2980
Isotretinoin Embryopathy-Like Syndrome
Microtia, Cleft palate, Anotia OMIM:243440
Rhyns Syndrome
Sensorineural hearing impairment, Conductive hearing impairment OMIM:602152
Tenosynovial Giant Cell Tumor
Conductive hearing impairment, Abnormal tympanic membrane morphology, Abnormal auditory canal mor... ORPHA:66627
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Interictal epileptiform activity, Bilateral conductive hearing impairment, Low-set ears OMIM:617802
Late-Infantile/Juvenile Krabbe Disease
Abnormality of visual evoked potentials, EEG with persistent abnormal rhythmic activity, Delayed ... ORPHA:206443
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Stenosis of the external au... OMIM:606164
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip... ORPHA:888
Distal Limb Deficiencies-Micrognathia Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Low-set, posteriorly rotated ears 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
Hearing impairment, Conductive hearing impairment, Large earlobe, Low-set ears OMIM:619312
Saethre-Chotzen Syndrome
Optic atrophy, Abnormal antihelix morphology, Sensorineural hearing impairment, Abnormal pinna mo... ORPHA:794
Diamond-Blackfan Anemia 10
Microtia, Low-set ears, Hearing impairment, Atresia of the external auditory canal, Conductive he... OMIM:613309
Isolated Cleft Lip
Chronic otitis media, Conductive hearing impairment, Abnormal Eustachian tube morphology ORPHA:199302
19P13.12 Microdeletion Syndrome
Sensorineural hearing impairment, Abnormal pinna morphology, Conductive hearing impairment, Low-s... ORPHA:254346
Lateral Meningocele Syndrome
Sensorineural hearing impairment, Low-set ears, Abnormality of the middle ear ossicles, Atresia o... ORPHA:2789
Smith-Magenis Syndrome
Chronic otitis media, Conductive hearing impairment, EEG abnormality ORPHA:819
Mandibulofacial Dysostosis, Guion-Almeida Type
Microtia, Low-set ears, Atresia of the external auditory canal, Conductive hearing impairment, Ov... OMIM:610536
Trichorhinophalangeal Syndrome Type 2
Protruding ear, Conductive hearing impairment, Low-set, posteriorly rotated ears ORPHA:502
Mucolipidosis Type Iii Alpha/Beta
Sensorineural hearing impairment, Recurrent otitis media, Conductive hearing impairment ORPHA:423461
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Atresia of the external auditory canal, Conductive hearing impairment, Simple ear OMIM:602471
Congenital Disorder Of Glycosylation, Type Iit
Low-set ears, Conductive hearing impairment, Posteriorly rotated ears OMIM:618885
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Cleft palate, Ankyloglossia OMIM:303400
Congenital Disorder Of Glycosylation, Type Iig
Stenosis of the external auditory canal, Microtia, Low-set ears, Conductive hearing impairment, P... OMIM:611209
Robinow Syndrome, Autosomal Dominant 2
Hearing impairment, Sensorineural hearing impairment, Mixed hearing impairment, Conductive hearin... OMIM:616331
Osteogenesis Imperfecta, Type Xvi
Hearing impairment, Conductive hearing impairment OMIM:616229
Primary Ciliary Dyskinesia
Chronic otitis media, Conductive hearing impairment, Hearing impairment, Recurrent otitis media ORPHA:244
Marshall-Smith Syndrome
Optic atrophy, Conductive hearing impairment ORPHA:561
Crouzon Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Optic atrophy OMIM:123500
Generalized Arterial Calcification Of Infancy
Mixed hearing impairment, Sensorineural hearing impairment, Calcification of the auricular cartil... ORPHA:51608
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Delayed brainstem auditory evoked response conduction time OMIM:616881
Chromosome 18Q Deletion Syndrome
Optic atrophy, Sensorineural hearing impairment, Stenosis of the external auditory canal, Hearing... OMIM:601808
Carpenter Syndrome 1
Optic atrophy, Sensorineural hearing impairment, Abnormal pinna morphology, Low-set ears, Conduct... OMIM:201000
Sporadic Pheochromocytoma/Secreting Paraganglioma
Conductive hearing impairment, Cranial nerve compression, Paroxysmal vertigo, Pulsatile tinnitus ORPHA:276621
Kniest Dysplasia
Conductive hearing impairment, Recurrent otitis media OMIM:156550
Ciliary Dyskinesia, Primary, 1
Chronic otitis media, Conductive hearing impairment OMIM:244400
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Vestibular areflexia, Absent brainstem auditory responses ORPHA:3240
Fanconi Anemia, Complementation Group I
Conductive hearing impairment, Optic nerve hypoplasia OMIM:609053
Calvarial Doughnut Lesions With Bone Fragility
Mixed hearing impairment OMIM:126550
Retinitis Pigmentosa
Optic atrophy, Sensorineural hearing impairment, Conductive hearing impairment, Optic disc pallor ORPHA:791
Stickler Syndrome, Type I
Sensorineural hearing impairment, Conductive hearing impairment OMIM:108300
ERI1-related disease
Macrotia, Conductive hearing impairment, Low-set ears OMIM:608739
Sotos Syndrome
Low-set ears, Macrotia, Conductive hearing impairment, Posteriorly rotated ears, Otitis media OMIM:117550
Osteopathia Striata-Cranial Sclerosis Syndrome
Low-set ears, Conductive hearing impairment, Facial palsy, Posteriorly rotated ears ORPHA:2780
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Distal Deletion 19P
Sensorineural hearing impairment, Conductive hearing impairment, Low-set, posteriorly rotated ears ORPHA:96129
Rabin-Pappas Syndrome
Sensorineural hearing impairment, Optic nerve hypoplasia, Conductive hearing impairment OMIM:620155
Mucopolysaccharidosis Type 2, Severe Form
Optic atrophy, Sensorineural hearing impairment, Otosclerosis, Gingival overgrowth, Abnormal dent... ORPHA:217085
Mucopolysaccharidosis Type 2
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Gingival ov... ORPHA:580
Waardenburg Syndrome
Hearing impairment, Conductive hearing impairment, Aganglionic megacolon ORPHA:3440
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Mucopolysaccharidosis Type 2, Attenuated Form
Optic atrophy, Sensorineural hearing impairment, Otosclerosis, Gingival overgrowth, Abnormal dent... ORPHA:217093
Branchio-Oculo-Facial Syndrome
Conductive hearing impairment, Abnormal pinna morphology, Low-set, posteriorly rotated ears ORPHA:1297
Proximal 16P11.2 Microdeletion Syndrome
Sensorineural hearing impairment, Conductive hearing impairment ORPHA:261197
Van Maldergem Syndrome 2
Sensorineural hearing impairment, Microtia, Stenosis of the external auditory canal, Hearing impa... OMIM:615546
Hennekam-Beemer Syndrome
Hearing impairment, Conductive hearing impairment, Microtia, Optic atrophy ORPHA:2135
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Lateral Meningocele Syndrome
Low-set ears, Conductive hearing impairment, Posteriorly rotated ears, Abnormality of the middle ... OMIM:130720
Gorlin-Chaudhry-Moss Syndrome
Conductive hearing impairment ORPHA:2095
Giant Cell Arteritis
Hearing impairment, Vertigo, Optic atrophy, Conductive hearing impairment ORPHA:397
Craniometaphyseal Dysplasia, Autosomal Recessive
Optic atrophy, Mixed hearing impairment, Facial palsy OMIM:218400
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Optic nerve hypoplasia, Decreased nerve conduction velocity, Ab... ORPHA:101085
Van Maldergem Syndrome 1
Atresia of the external auditory canal, Sensorineural hearing impairment, Microtia, Conductive he... OMIM:601390
2Q37 Microdeletion Syndrome
Conductive hearing impairment ORPHA:1001
Multiple Pterygium-Malignant Hyperthermia Syndrome
Conductive hearing impairment, Posteriorly rotated ears ORPHA:2215
Immunodeficiency 23
Sensorineural hearing impairment, Conductive hearing impairment OMIM:615816
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Mixed hearing impairment, Sensorineural hearing impairment, Low-set ears, Optic disc coloboma, Lo... OMIM:300472
Apert Syndrome
Optic atrophy, Sensorineural hearing impairment, Conductive hearing impairment, Abnormal semicirc... ORPHA:87
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Sensorineural hearing impairment, Abnormal auditory evoked potentials, A... ORPHA:99027
Kapur-Toriello Syndrome
Conductive hearing impairment, Low-set ears OMIM:244300
Craniometaphyseal Dysplasia, Autosomal Dominant
Mixed hearing impairment, Facial palsy OMIM:123000
Autosomal Recessive Multiple Pterygium Syndrome
Hearing impairment, Conductive hearing impairment, Hearing abnormality, Low-set ears ORPHA:2990
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Decreased nerve conduction velocity, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Otopalatodigital Syndrome, Type I
Conductive hearing impairment OMIM:311300
Hereditary Pheochromocytoma-Paraganglioma
Conductive hearing impairment, Cranial nerve compression, Paroxysmal vertigo, Pulsatile tinnitus ORPHA:29072
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Low-set ears, Mixed hearing impairment, Thickened helices, Overfolded helix OMIM:608624
Mucopolysaccharidosis Type 3
Chronic otitis media, Optic atrophy, Mixed hearing impairment, Sensorineural hearing impairment, ... ORPHA:581
Developmental Delay, Hypotonia, And Impaired Language
Mixed hearing impairment OMIM:620012
Postaxial Acrofacial Dysostosis
Conductive hearing impairment, Low-set ears, Cupped ear OMIM:263750
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Sensorineural hearing impairment, Conductive hearing impairment, Low-set ears OMIM:235510
Paget Disease Of Bone 2, Early-Onset
Bilateral conductive hearing impairment OMIM:602080
Cockayne Syndrome Type 1
Optic atrophy, Absent brainstem auditory responses, Hearing impairment, Macrotia, Abnormality of ... ORPHA:90321
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Abnormality of visual evoked potentials, Absent ... ORPHA:79330
Brittle Cornea Syndrome
Sensorineural hearing impairment, Conductive hearing impairment ORPHA:90354
Pgm3-Cdg
Chronic otitis media, Sensorineural hearing impairment, Conductive hearing impairment, Mild neuro... ORPHA:443811
Oculodentodigital Dysplasia
Optic atrophy, Abnormal pinna morphology, Hearing impairment, Conductive hearing impairment, Abno... ORPHA:2710
Shprintzen-Goldberg Craniosynostosis Syndrome
Low-set ears, Conductive hearing impairment, Abnormal pinna morphology, Posteriorly rotated ears OMIM:182212
Achondroplasia
Conductive hearing impairment, Recurrent otitis media OMIM:100800
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Mixed hearing impairment, Microtia, Bilateral conductive hearing impairment, Low-set ears, Facial... OMIM:620186
Cerebrofacioarticular Syndrome
Conductive hearing impairment, Microtia ORPHA:314679
Cardiospondylocarpofacial Syndrome
Recurrent otitis media, Low-set ears, Fusion of middle ear ossicles, Conductive hearing impairmen... OMIM:157800
Trisomy 10P
Low voltage EEG, EEG with focal spikes, Low-set ears, Abnormal auditory evoked potentials, Macrot... ORPHA:171929
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Conductive hearing impairment, Recurrent otitis media OMIM:250420
Fanconi Anemia, Complementation Group F
Conductive hearing impairment, Microtia OMIM:603467
Branchiooculofacial Syndrome
Sensorineural hearing impairment, Microtia, Low-set ears, Hypoplastic superior helix, Abnormality... OMIM:113620
Cornelia De Lange Syndrome 1
Optic atrophy, Sensorineural hearing impairment, Low-set ears, Abnormal incisura morphology, Cond... OMIM:122470
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Mixed hearing impairment, Low-set ears, Cupped ear OMIM:615560
Shprintzen-Goldberg Syndrome
Protruding ear, Conductive hearing impairment, Posteriorly rotated ears, Low-set ears ORPHA:2462
Larsen Syndrome
Conductive hearing impairment ORPHA:503
Beckwith-Wiedemann Syndrome
Abnormal earlobe morphology, Otosclerosis, Hearing impairment, Posterior helix pit, Large intesti... ORPHA:116
Meier-Gorlin Syndrome 6
Stenosis of the external auditory canal, Microtia, Conductive hearing impairment, Posteriorly rot... OMIM:616835
Cerebrotendinous Xanthomatosis
Optic atrophy, Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Optic ne... ORPHA:909
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Posteriorly rotated ears, Abnorm... ORPHA:466943
Frontorhiny
Congenital conductive hearing impairment, Low-set, posteriorly rotated ears ORPHA:391474
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Sensorineural hearing impairment, Mixed hearing impairment, Conductive hearing impairment, Overfo... OMIM:300990
Orofaciodigital Syndrome Ii
Conductive hearing impairment OMIM:252100
Alpha-Mannosidosis, Adult Form
Mixed hearing impairment, Optic disc pallor ORPHA:309288
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Conductive hearing impairment, Mixed hearing impairment, High-frequency sensorineural hearing imp... OMIM:614557
Codas Syndrome
Sensorineural hearing impairment, Crumpled ear, Conductive hearing impairment OMIM:600373
Orofaciodigital Syndrome Type 6
Conductive hearing impairment, Low-set, posteriorly rotated ears ORPHA:2754
Orofaciodigital Syndrome Vi
Low-set ears, Conductive hearing impairment, Posteriorly rotated ears OMIM:277170
Osteopathia Striata With Cranial Sclerosis
Microtia, Low-set ears, Facial palsy, Conductive hearing impairment, Posteriorly rotated ears, Ov... OMIM:300373
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Atresia of the external auditory canal, Conductive hearing impairment OMIM:106260
Baller-Gerold Syndrome
Conductive hearing impairment ORPHA:1225
Cerebrooculonasal Syndrome
Low-set ears, Conductive hearing impairment, Optic nerve hypoplasia, Posteriorly rotated ears OMIM:605627
Monosomy 18Q
Sensorineural hearing impairment, Bilateral conductive hearing impairment, Macrotia ORPHA:1600
Down Syndrome
Conductive hearing impairment, Aganglionic megacolon, Round ear ORPHA:870
Leukocyte Adhesion Deficiency Type Ii
Small earlobe, Microtia, Recurrent otitis media, Conductive hearing impairment ORPHA:99843
Frontometaphyseal Dysplasia
Hearing impairment, Sensorineural hearing impairment, Mixed hearing impairment, Conductive hearin... ORPHA:1826
Intellectual Developmental Disorder, Autosomal Dominant 73
Recurrent otitis media, Microtia, Low-set ears, Anteverted ears, Macrotia, Conductive hearing imp... OMIM:620450
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Sensorineural hearing impairment, Microtia, Conductive hearing impairment, Low-set ears OMIM:618500
Kabuki Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Macrotia, Protruding ear, EEG ab... ORPHA:2322
Cockayne Syndrome Type 3
Adult onset sensorineural hearing impairment, Macrotia, Conductive hearing impairment, Abnormalit... ORPHA:90324
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Mixed hearing impairment, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, He... ORPHA:444077
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Sensorineural hearing impairment, Mixed hearing impairment OMIM:215150
Acro-Renal-Ocular Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Aganglionic megacolon, Optic dis... ORPHA:959
Bosma Arhinia Microphthalmia Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Abnormal pinna morphology,... OMIM:603457
Cockayne Syndrome B
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... OMIM:133540
Multiple Pterygium Syndrome, Escobar Variant
Conductive hearing impairment, Low-set ears, Exostosis of the external auditory canal OMIM:265000
Cockayne Syndrome A
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... OMIM:216400
Warburg-Cinotti Syndrome
Low-set ears, Atresia of the external auditory canal, Conductive hearing impairment, Posteriorly ... OMIM:618175
Mucolipidosis Type Ii
Sensorineural hearing impairment, Conductive hearing impairment, Otitis media ORPHA:576
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Conductive hearing impairment, Recurrent otitis media ORPHA:2502
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal earlobe morphology, Abnormal antihelix morphology, Stenosis of the external auditory can... ORPHA:95699
Frontometaphyseal Dysplasia 2
Sensorineural hearing impairment, Abnormal pinna morphology, Conductive hearing impairment, Low-s... OMIM:617137
Treacher-Collins Syndrome
Conductive hearing impairment, Microtia, Abnormality of the middle ear, Narrow internal auditory ... ORPHA:861
Trisomy 8P
Aplasia/Hypoplasia of the tragus, Conductive hearing impairment, Abnormal middle ear morphology, ... ORPHA:264450
Cerebrocostomandibular Syndrome
Atresia of the external auditory canal, Conductive hearing impairment ORPHA:1393
3Mc Syndrome 1
Hearing impairment, Conductive hearing impairment OMIM:257920
Congenital Myopathy 13
Conductive hearing impairment, Low-set ears OMIM:255995
Oculodentodigital Dysplasia
Conductive hearing impairment, Abnormal pinna morphology OMIM:164200
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Protruding ear, Conductive hearing impairment, Sensorineural hearing impairment, Optic nerve hypo... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Protruding ear, Conductive hearing impairment, Sensorineural hearing impairment, Optic nerve hypo... ORPHA:352665
Feingold Syndrome Type 1
Sensorineural hearing impairment, Conductive hearing impairment ORPHA:391641
Marshall-Smith Syndrome
Optic nerve hypoplasia, Bilateral conductive hearing impairment, Low-set ears, Hearing impairment... OMIM:602535
Kyphoscoliotic Ehlers-Danlos Syndrome
Hearing impairment, Sensorineural hearing impairment, Conductive hearing impairment, Low-set ears ORPHA:536545
Acrofacial Dysostosis 1, Nager Type
Aganglionic megacolon, Low-set ears, Atresia of the external auditory canal, Conductive hearing i... OMIM:154400
Orofaciodigital Syndrome Type 4
Microtia, third degree, Low-set ears, Conductive hearing impairment, Posteriorly rotated ears, Ab... ORPHA:2753
Larsen Syndrome
Hearing impairment, Conductive hearing impairment OMIM:150250
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Protruding ear, Conductive hearing impairment ORPHA:1071
Leprosy
Abnormal seventh cranial physiology, Abnormal autonomic nervous system physiology, Enlarged perip... ORPHA:548
Hunter-Macdonald Syndrome
Sensorineural hearing impairment, Conductive hearing impairment OMIM:611962
Hennekam Syndrome
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears ORPHA:2136
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Conductive hearing impairment, Uplifted earlobe, Overfolded helix OMIM:280000
Native American Myopathy
Conductive hearing impairment ORPHA:168572
Hajdu-Cheney Syndrome
Large earlobe, Conductive hearing impairment, Low-set ears OMIM:102500
22Q11.2 Deletion Syndrome
Chronic otitis media, Optic atrophy, Aganglionic megacolon, Small earlobe, Low-set ears, Hearing ... ORPHA:567
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Hearing impairment, Bilateral conductive hearing impairment ORPHA:488642
Pycnodysostosis
Mild conductive hearing impairment ORPHA:763
Faundes-Banka Syndrome
Long ear, Microtia, Low-set ears, Conductive hearing impairment, Cupped ear OMIM:619376
Treacher Collins Syndrome 1
Atresia of the external auditory canal, Conductive hearing impairment, Microtia OMIM:154500
Fraser Syndrome 1
Abnormal middle ear morphology, Abnormal pinna morphology, Low-set ears, Hypoplastic superior hel... OMIM:219000
Lacrimoauriculodentodigital Syndrome
Mixed hearing impairment, Sensorineural hearing impairment, Abnormal pinna morphology, Microtia, ... ORPHA:2363
Osteopetrosis With Renal Tubular Acidosis
Optic atrophy, Macrotia, Conductive hearing impairment, Cranial nerve compression ORPHA:2785
Chromosome 1P36 Deletion Syndrome, Distal
Optic atrophy, Hypsarrhythmia, Sensorineural hearing impairment, Microtia, Low-set ears, Hearing ... OMIM:607872
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials ORPHA:401973
15Q Overgrowth Syndrome
Mixed hearing impairment, Low-set, posteriorly rotated ears, Low-set ears, Posteriorly rotated ea... ORPHA:314585
Cardiac-Valvular Ehlers-Danlos Syndrome
Severe conductive hearing impairment ORPHA:230851
Turnpenny-Fry Syndrome
Conductive hearing impairment, Microtia, Satyr ear, Low-set ears OMIM:618371
1P36 Deletion Syndrome
Optic atrophy, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Microtia, Con... ORPHA:1606
Campomelic Dysplasia
Hearing impairment, Conductive hearing impairment, Low-set ears OMIM:114290
Down Syndrome
Conductive hearing impairment, Microtia, Aganglionic megacolon OMIM:190685
Distal Deletion 12Q
Prominent ear helix, Microtia, Bilateral conductive hearing impairment, Low-set ears ORPHA:96149
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Conductive hearing impairment, Low-set, posteriorly rotated ears ORPHA:306542
Raine Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Low-set ears, Posteriorly rotated ears, Prot... OMIM:259775
Cerebrocostomandibular Syndrome
Low-set ears, Conductive hearing impairment, Posteriorly rotated ears OMIM:117650
Baller-Gerold Syndrome
Optic atrophy, Mixed hearing impairment, Optic nerve hypoplasia, Low-set ears, Conductive hearing... OMIM:218600
Brachytelephalangic Chondrodysplasia Punctata
Optic nerve hypoplasia, Mixed hearing impairment ORPHA:79345
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Conductive hearing impairment, Macrotia, Calcification of the auricular cartilage ORPHA:3042
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Conductive hearing impairment, Sensorineural hearing impairment, EEG abnormality, Otitis media ORPHA:353281
Orofaciodigital Syndrome Type 2
Protruding ear, Conductive hearing impairment ORPHA:2751
Wolf-Hirschhorn Syndrome
Stenosis of the external auditory canal, Abnormal pinna morphology, Sensorineural hearing impairm... OMIM:194190
Fontaine Progeroid Syndrome
Low-set ears, Conductive hearing impairment, Posteriorly rotated ears OMIM:612289
Fraser Syndrome
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Microtia, Abnormality of the middle... ORPHA:2052
Degcags Syndrome
Unilateral conductive hearing impairment, Sensorineural hearing impairment, Low-set ears, Hearing... OMIM:619488
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Conductive hearing impairment, Microtia OMIM:129900
Acrofrontofacionasal Dysostosis 1
Optic atrophy, Mixed hearing impairment OMIM:201180
Floating-Harbor Syndrome
Low-set ears, Conductive hearing impairment, Recurrent otitis media, Posteriorly rotated ears OMIM:136140
Cornelia De Lange Syndrome
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Atresia of the external audi... ORPHA:199
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Low-set ears, Mixed hearing impairment, Posteriorly rotated ears, Peripapillary atrophy ORPHA:536467
Alpha-Mannosidosis, Infantile Form
Sensorineural hearing impairment, Mixed hearing impairment, Optic disc pallor, Otitis media ORPHA:309282
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Sensorineural hearing impairment, Low-set ears, Conductive hearing impairment, Otitis media, EEG ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Sensorineural hearing impairment, Low-set ears, Conductive hearing impairment, Otitis media, EEG ... ORPHA:353277
Hutchinson-Gilford Progeria Syndrome
Prominent ear helix, High-frequency sensorineural hearing impairment, Low-frequency sensorineural... ORPHA:740
Pseudoaminopterin Syndrome
Absent earlobe, Mild conductive hearing impairment, Hypoplasia of the antihelix, Low-set, posteri... ORPHA:221120
Peters Plus Syndrome
Optic atrophy, Conductive hearing impairment, Microtia, second degree, Low-set, posteriorly rotat... ORPHA:709
Floating-Harbor Syndrome
Conductive hearing impairment, Low-set ears, Cochlear malformation ORPHA:2044
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
Neurooculorenal Syndrome
Sensorineural hearing impairment, Mixed hearing impairment OMIM:620305
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Conductive hearing impairment, Low-set ears, Simple ear OMIM:201750
Sotos Syndrome
Chronic otitis media, Aganglionic megacolon, Hearing impairment, Conductive hearing impairment, C... ORPHA:821
Mowat-Wilson Syndrome
Recurrent otitis media, Aganglionic megacolon, EEG with spike-wave complexes, Sensorineural heari... ORPHA:2152
Branchioskeletogenital Syndrome
Large earlobe, Attached earlobe, Mixed hearing impairment ORPHA:1299
Robinow Syndrome
Low-set ears, Mixed hearing impairment, Posteriorly rotated ears ORPHA:97360
Craniofacial Microsomia 1
Sensorineural hearing impairment, Microtia, Underdeveloped tragus, Atresia of the external audito... OMIM:164210
Osteogenesis Imperfecta
Hearing impairment, Progressive hearing impairment, Mixed hearing impairment ORPHA:666
Focal Dermal Hypoplasia
Optic atrophy, Stenosis of the external auditory canal, Mixed hearing impairment, Low-set ears OMIM:305600
Charge Syndrome
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Facial palsy,... OMIM:214800
Lacrimoauriculodentodigital Syndrome 1
Hearing impairment, Mixed hearing impairment, Microtia, Cupped ear 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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter