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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Absence of acoustic reflex, Abnormal auditory evoked potentials, Sensorineural hearing impairment... OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy
Conductive hearing impairment, Abnormality of the stapes, Facial paralysis, External ear malforma... OMIM:124490
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the antihelix, Conductive hearing impairment, Hypoplasia of the antihelix, Aplasia... ORPHA:3232
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the middle ear ossicles, Abnormality of the malleus, Conductive hearing impairment... OMIM:128980
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormality of the pinna, ... 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
Progressive sensorineural hearing impairment, High-frequency hearing impairment, Low-frequency se... ORPHA:87884
Deafness, X-Linked 2
Progressive sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Mi... OMIM:304400
Otosclerosis 7
Otosclerosis, Abnormality of the acoustic reflex, Conductive hearing impairment, Hearing impairme... OMIM:611572
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Atresia of the external auditory canal, Aplasia/Hypoplasia of the ... OMIM:108760
Deafness, Autosomal Dominant 23
Conductive hearing impairment, Sensorineural hearing impairment OMIM:605192
Conductive Deafness-Malformed External Ear Syndrome
Abnormality of the middle ear ossicles, Overfolded helix, Conductive hearing impairment, Abnormal... ORPHA:3216
Deafness-Hypogonadism Syndrome
Progressive sensorineural hearing impairment, Enlarged cochlear aqueduct, Abnormality of the midd... ORPHA:90646
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Aural Atresia, Congenital
Conductive hearing impairment, Atresia of the external auditory canal OMIM:607842
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
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Conductive hearing impairment, Atresia of the external auditory canal, Chronic otitis media OMIM:221320
Middle Ear Neuroendocrine Tumor
Unilateral conductive hearing impairment, Sensorineural hearing impairment, Facial palsy, Abnorma... ORPHA:100084
Chromosome Xq21 Deletion Syndrome
Progressive sensorineural hearing impairment, Hearing impairment, Conductive hearing impairment OMIM:303110
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Microtia, Hearing Impairment, And Cleft Palate
Overfolded helix, Stenosis of the external auditory canal, Mixed hearing impairment, Increased in... OMIM:612290
Craniodiaphyseal Dysplasia
Conductive hearing impairment, Stenosis of the external auditory canal, Optic atrophy ORPHA:1513
Multiple Synostoses Syndrome
Conductive hearing impairment ORPHA:3237
Auriculocondylar Syndrome 3
Bilateral conductive hearing impairment, Stenosis of the external auditory canal, Question mark ear OMIM:615706
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Conductive hearing impairment ORPHA:2669
Treacher Collins Syndrome 3
Conductive hearing impairment, Microtia, Abnormality of the outer ear OMIM:248390
Deafness And Myopia
Conductive hearing impairment, Profound hearing impairment OMIM:221200
Cleft Lip With Or Without Cleft Palate
Non-midline cleft palate, Recurrent otitis media, Non-midline cleft lip, Hearing impairment, Subm... ORPHA:1991
Microtia With Meatal Atresia And Conductive Deafness
Anotia, Aplasia/Hypoplasia of the middle ear, Conductive hearing impairment, Microtia OMIM:251800
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Auriculocondylar Syndrome 2
Narrow mouth, Dental crowding, Overfolding of the superior helices, Mandibular condyle aplasia, A... OMIM:614669
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Conductive hearing impairment, Sensorineural hearing impairment OMIM:610738
Weaver-Williams Syndrome
Protruding ear, Narrow mouth, Cleft palate ORPHA:3448
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Cleft Velum
Conductive hearing impairment, Recurrent otitis media ORPHA:99772
Treacher Collins Syndrome 2
Conductive hearing impairment, Microtia OMIM:613717
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Microtia OMIM:300946
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Conductive hearing impairment, Abnormality of the pinna, Low-set ears, Sensorineural hearing impa... OMIM:618500
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Conductive hearing impairment ORPHA:85179
Multiple Synostoses Syndrome 1
Short philtrum, Stapes ankylosis, Thick upper lip vermilion, Thin upper lip vermilion, Progressiv... OMIM:186500
Cleft Palate, Deafness, And Oligodontia
Bilateral conductive hearing impairment OMIM:216300
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Otosclerosis 10
Otosclerosis OMIM:615589
Multiple Synostoses Syndrome 4
Otosclerosis OMIM:617898
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Everted lower lip vermilion, Tented upper lip vermilion, Posteriorly rotated ears... OMIM:616898
Cleft Lip/Palate
Agenesis of lateral incisor, Conductive hearing impairment, Recurrent otitis media, Oral cleft, P... ORPHA:199306
Branchiootic Syndrome 1
Hypoplasia of the cochlea, Cochlear malformation, Low-set ears, Cupped ear, Sensorineural hearing... OMIM:602588
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduction velocity OMIM:601455
Craniometaphyseal Dysplasia
Conductive hearing impairment, Abnormal cranial nerve morphology, Sensorineural hearing impairmen... ORPHA:1522
Abruzzo-Erickson Syndrome
Hearing impairment, Protruding ear, Macrotia, Cleft palate OMIM:302905
Ciliary Dyskinesia, Primary, 33
Conductive hearing impairment, Recurrent otitis media OMIM:616726
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Abnormal peripheral action potential amplitude ORPHA:90117
Branchiootic Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Morphological abnormality ... ORPHA:52429
X-Linked Intellectual Disability, Abidi Type
Hearing impairment, Protruding ear, Non-midline cleft lip, Cleft palate ORPHA:85273
Xq21 Microdeletion Syndrome
Stapes ankylosis, Conductive hearing impairment, Sensorineural hearing impairment, Bilateral sens... ORPHA:1435
Familial Expansile Osteolysis
Conductive hearing impairment OMIM:174810
Klippel-Feil Syndrome 2, Autosomal Recessive
Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the pinna OMIM:214300
Hemifacial Microsomia With Radial Defects
Conductive hearing impairment, Atresia of the external auditory canal, Non-midline cleft lip, Ora... OMIM:141400
Auriculocondylar Syndrome 1
Narrow mouth, Dental crowding, Overfolding of the superior helices, Mandibular condyle aplasia, L... OMIM:602483
Treacher Collins Syndrome 4
Conductive hearing impairment OMIM:618939
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Conductive hearing impairment, Microtia OMIM:248910
Achondroplasia
Conductive hearing impairment, Recurrent otitis media OMIM:100800
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic atrophy OMIM:125250
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Conductive hearing impairment, Atresia of the external auditory canal OMIM:133705
Branchiogenic Deafness Syndrome
Abnormality of the middle ear ossicles, Aplasia/Hypoplasia of the inner ear, Overfolded helix, Co... ORPHA:50815
Symphalangism With Multiple Anomalies Of Hands And Feet
Conductive hearing impairment ORPHA:3246
Hypertelorism-Microtia-Facial Clefting Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Microtia ORPHA:2213
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormality of the antihelix, Large earlobe, Absent tragus, Overfolded helix, Conductive hearing ... ORPHA:79113
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Ramon Syndrome
Conductive hearing impairment, Sensorineural hearing impairment ORPHA:3019
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Conductive hearing impairment OMIM:132450
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
Otofaciocervical Syndrome
Abnormality of the antihelix, Macrotia, Conductive hearing impairment, Atresia of the external au... ORPHA:2792
Ciliary Dyskinesia, Primary, 38
Conductive hearing impairment, Chronic otitis media OMIM:618063
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Short philtrum, Macroglossia, Infantile sensorineural hearing impairme... ORPHA:798
Retinitis Pigmentosa
Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy ORPHA:791
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairm... OMIM:201050
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Aplasia/Hypoplasia of the ... ORPHA:3236
Otofaciocervical Syndrome 1
Conductive hearing impairment OMIM:166780
Abruzzo-Erickson Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Macrotia ORPHA:921
Osteogenesis Imperfecta, Type Xvi
Conductive hearing impairment, Hearing impairment OMIM:616229
Myopathy, Congenital, Bailey-Bloch
Low-set ears, Conductive hearing impairment OMIM:255995
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Conductive hearing impairment, Abnormality of the antihelix ORPHA:3145
Osteopetrosis, Autosomal Dominant 1
Conductive hearing impairment OMIM:607634
Alopecia Antibody Deficiency
Conductive hearing impairment ORPHA:1006
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Oculoauriculovertebral Spectrum With Radial Defects
Abnormality of the middle ear ossicles, Conductive hearing impairment, Atresia of the external au... ORPHA:2549
Bor Syndrome
Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Enlarged cochlear aqueduct, At... ORPHA:107
Klippel-Feil Syndrome 1, Autosomal Dominant
Conductive hearing impairment, Hearing impairment, Sensorineural hearing impairment, Mixed hearin... OMIM:118100
Zechi-Ceide Syndrome
Conductive hearing impairment, Low-set ears, Stenosis of the external auditory canal, Abnormality... ORPHA:217017
Postaxial Acrofacial Dysostosis
Conductive hearing impairment, Low-set, posteriorly rotated ears, Cupped ear, Microtia, Abnormali... ORPHA:246
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Sensorineural hearing impairment, Cleft lip, Cleft palate OMIM:612370
Progeroid Facial Appearance With Hand Anomalies
Conductive hearing impairment, Protruding ear OMIM:602249
Short Stature And Facioauriculothoracic Malformations
Overfolded helix, Low-set ears, Cupped ear, Cleft upper lip, Cleft palate, High palate, Microtia OMIM:609654
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Dentinogenesis imperfecta, Hearing impairment OMIM:166220
Robinow Syndrome, Autosomal Dominant 2
Conductive hearing impairment, Hearing impairment, Sensorineural hearing impairment OMIM:616331
Auriculocondylar Syndrome
Narrow mouth, Difficulty in tongue movements, Dental crowding, Low-set, posteriorly rotated ears,... ORPHA:137888
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Low-set ears, Sensorineural hearing impairment, Conductive hearing impairment, Optic atrophy OMIM:618672
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Anotia, Atresia of the external auditory canal, Stenosis of the external auditory canal, Conducti... OMIM:608257
Blepharo-Cheilo-Odontic Syndrome
Conductive hearing impairment ORPHA:1997
Mohr-Tranebjaerg Syndrome
Vestibular dysfunction, Absent brainstem auditory responses, Sensorineural hearing impairment, Ab... ORPHA:52368
Branchiootorenal Syndrome 1
Hypoplasia of the cochlea, Dilatated internal auditory canal, Conductive hearing impairment, Inte... OMIM:113650
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Temporal op... ORPHA:1215
Oculoauriculofrontonasal Syndrome
Conductive hearing impairment, Microtia ORPHA:398156
Van Der Woude Syndrome 1
Hypodontia, Cleft upper lip, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
Crouzon Disease
Conductive hearing impairment, Hearing impairment, Optic atrophy, Narrow internal auditory canal ORPHA:207
Cardiospondylocarpofacial Syndrome
Conductive hearing impairment ORPHA:3238
Agnathia-Otocephaly Complex
Conductive hearing impairment, Synotia, Abnormality of the outer ear OMIM:202650
Pigmented Villonodular Synovitis
Abnormality of the tympanic membrane, Abnormality of the auditory canal, Conductive hearing impai... ORPHA:66627
Osteogenesis Imperfecta, Type I
Otosclerosis, Dentinogenesis imperfecta, Hearing impairment OMIM:166200
Mandibulofacial Dysostosis With Alopecia
Conductive hearing impairment, Low-set ears, Cupped ear, Stenosis of the external auditory canal,... OMIM:616367
Orofaciodigital Syndrome Vi
Low-set ears, Posteriorly rotated ears, Conductive hearing impairment OMIM:277170
Thoracic Dysplasia-Hydrocephalus Syndrome
Conductive hearing impairment ORPHA:1861
Hypertelorism, Microtia, Facial Clefting Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Microtia OMIM:239800
Cooper-Jabs Syndrome
Conductive hearing impairment, Low-set, posteriorly rotated ears, Atresia of the external auditor... ORPHA:1488
Frontonasal Dysplasia 1
Low-set ears, Conductive hearing impairment OMIM:136760
Non-Functioning Paraganglioma
Conductive hearing impairment, Paroxysmal vertigo, Cranial nerve compression, Pulsatile tinnitus ORPHA:94080
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Conductive hearing impairment, Optic atrophy ORPHA:93262
Branchiogenic-Deafness Syndrome
Mixed hearing impairment, Abnormality of the middle ear ossicles, Atresia of the external auditor... OMIM:609166
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Conductive hearing impairment, Abnormality of the antihelix, Aplasia/Hypoplasia of the earlobes, ... ORPHA:3082
Johnson Neuroectodermal Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Protruding ear, Facial pal... ORPHA:2316
Isolated Cleft Lip
Conductive hearing impairment, Chronic otitis media, Macrodontia, Non-midline cleft lip, Hypodont... ORPHA:199302
Johnson Neuroectodermal Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Protruding ear, Facial pal... OMIM:147770
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Burn-Mckeown Syndrome
Conductive hearing impairment, Protruding ear OMIM:608572
Paragangliomas 1
Conductive hearing impairment, Pulsatile tinnitus OMIM:168000
Acrocraniofacial Dysostosis
Abnormality of the incus, Abnormality of the middle ear ossicles, Abnormality of the malleus, Con... ORPHA:949
Oculocerebrodental Syndrome
Conductive hearing impairment, Hearing impairment, Sensorineural hearing impairment ORPHA:557003
Larsen-Like Syndrome
Low-set ears, Recurrent otitis media, Conductive hearing impairment OMIM:608545
Kbg Syndrome
Bilateral conductive hearing impairment, EEG abnormality, Macrotia ORPHA:2332
Coffin-Siris Syndrome 6
Conductive hearing impairment, Low-set, posteriorly rotated ears OMIM:617808
Fibrodysplasia Ossificans Progressiva
Conductive hearing impairment, Sensorineural hearing impairment OMIM:135100
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Conductive hearing impairment, Aplasia/Hypoplasia of the earlobes, Stenosis of the external audit... ORPHA:2878
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Conductive hearing impairment OMIM:601076
Phaver Syndrome
Overfolded helix, Conductive hearing impairment, Aplasia/Hypoplasia of the earlobes, Low-set ears... ORPHA:2876
X-Linked Mandibulofacial Dysostosis
Conductive hearing impairment, Low-set, posteriorly rotated ears, Sensorineural hearing impairmen... ORPHA:1131
Isotretinoin Embryopathy-Like Syndrome
Anotia, Microtia, Cleft palate OMIM:243440
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Low-set ears, Posteriorly rotated ears, Conductive hearing impairment OMIM:617877
Distal Limb Deficiencies-Micrognathia Syndrome
Conductive hearing impairment, Low-set, posteriorly rotated ears, Sensorineural hearing impairment ORPHA:1307
Cardiospondylocarpofacial Syndrome
Posteriorly rotated ears, Recurrent otitis media, Conductive hearing impairment, Congenital senso... OMIM:157800
Diamond-Blackfan Anemia 10
Conductive hearing impairment, Atresia of the external auditory canal, Low-set ears, Posteriorly ... OMIM:613309
Brachycephaly, Trichomegaly, And Developmental Delay
Low-set ears, Conductive hearing impairment, Overfolded helix OMIM:617412
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Conductive hearing impairment, Atresia of the external auditory canal OMIM:602471
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Posteriorly rotated ears, Sensorineural hearing impairment, Mixed hearing impairment, Microtia OMIM:606164
17Q24.2 Microdeletion Syndrome
Otosclerosis, Short philtrum, Tooth malposition, Recurrent otitis media, Thin upper lip vermilion... ORPHA:529962
Acrootoocular Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Low-set ears, Pseudopapill... ORPHA:2980
Rhyns Syndrome
Conductive hearing impairment OMIM:602152
Van Der Woude Syndrome
Abnormal salivary gland morphology, Lip pit, Hypodontia, Cleft upper lip, Cleft palate, Lower lip... ORPHA:888
Saethre-Chotzen Syndrome
Abnormality of the antihelix, Narrow internal auditory canal, Conductive hearing impairment, Low-... ORPHA:794
Radio-Tartaglia Syndrome
Low-set ears, Hearing impairment, Conductive hearing impairment, Large earlobe OMIM:619312
Trichorhinophalangeal Syndrome Type 2
Conductive hearing impairment, Low-set, posteriorly rotated ears, Protruding ear ORPHA:502
Mandibulofacial Dysostosis, Guion-Almeida Type
Overfolded helix, Conductive hearing impairment, Atresia of the external auditory canal, Low-set ... OMIM:610536
Lateral Meningocele Syndrome
Abnormality of the middle ear ossicles, Conductive hearing impairment, Atresia of the external au... ORPHA:2789
19P13.12 Microdeletion Syndrome
Low-set ears, External ear malformation, Sensorineural hearing impairment, Conductive hearing imp... ORPHA:254346
Generalized Arterial Calcification Of Infancy
Stapes ankylosis, Conductive hearing impairment, Hearing impairment, Sensorineural hearing impair... ORPHA:51608
Sotos Syndrome 1
Conductive hearing impairment, Otitis media OMIM:117550
Crouzon Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Optic atrophy OMIM:123500
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Stickler Syndrome, Type I
Conductive hearing impairment, Sensorineural hearing impairment OMIM:108300
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor OMIM:619260
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic activity, D... ORPHA:206443
Kniest Dysplasia
Conductive hearing impairment, Recurrent otitis media OMIM:156550
Marshall-Smith Syndrome
Conductive hearing impairment, Optic atrophy ORPHA:561
Smith-Magenis Syndrome
Conductive hearing impairment, Chronic otitis media, EEG abnormality ORPHA:819
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Conductive hearing impairment, Mixed hearing impairment, High-frequency sensorineural hearing imp... OMIM:614557
Fanconi Anemia, Complementation Group I
Conductive hearing impairment, Optic nerve hypoplasia OMIM:609053
Sporadic Pheochromocytoma/Secreting Paraganglioma
Conductive hearing impairment, Paroxysmal vertigo, Cranial nerve compression, Pulsatile tinnitus ORPHA:276621
Down Syndrome
Conductive hearing impairment, Aganglionic megacolon, Microtia OMIM:190685
Ciliary Dyskinesia, Primary, 1
Conductive hearing impairment, Chronic otitis media OMIM:244400
Mucopolysaccharidosis Type 2, Severe Form
Otosclerosis, Macroglossia, Abnormality of dental morphology, Conductive hearing impairment, Papi... ORPHA:217085
Osteopathia Striata-Cranial Sclerosis Syndrome
Low-set ears, Posteriorly rotated ears, Conductive hearing impairment, Facial palsy ORPHA:2780
Brachydactyly, Type A1, With Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, And Mental Retardation
Chronic otitis media, Mixed hearing impairment OMIM:613627
Mucopolysaccharidosis Type 2, Attenuated Form
Otosclerosis, Macroglossia, Abnormality of dental morphology, Conductive hearing impairment, Papi... ORPHA:217093
Mucopolysaccharidosis Type 2
Otosclerosis, Macroglossia, Conductive hearing impairment, Papilledema, Thick vermilion border, S... ORPHA:580
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Conductive hearing impairment, Stenosis of the external auditory canal, Microtia OMIM:171480
Chromosome 18Q Deletion Syndrome
Macrotia, Conductive hearing impairment, Atresia of the external auditory canal, Stenosis of the ... OMIM:601808
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses ORPHA:3240
Craniometaphyseal Dysplasia, Autosomal Dominant
Facial palsy, Mixed hearing impairment OMIM:123000
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Calvarial Doughnut Lesions With Bone Fragility
Mixed hearing impairment OMIM:126550
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Low-set ears, Mixed hearing impairment, Microtia, Overfolded helix OMIM:608624
Distal Monosomy 19P13.3
Conductive hearing impairment, Low-set, posteriorly rotated ears, Sensorineural hearing impairment ORPHA:96129
Lateral Meningocele Syndrome
Low-set ears, Abnormality of the middle ear ossicles, Posteriorly rotated ears, Conductive hearin... OMIM:130720
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Long-segment aganglionic megacolon, Abnormal autonomic nerv... OMIM:609136
Carpenter Syndrome 1
Conductive hearing impairment, Abnormality of the pinna, Low-set ears, Sensorineural hearing impa... OMIM:201000
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Primary Ciliary Dyskinesia
Conductive hearing impairment, Hearing impairment, Recurrent otitis media, Chronic otitis media ORPHA:244
Paget Disease Of Bone 2, Early-Onset
Bilateral conductive hearing impairment OMIM:602080
Hennekam-Beemer Syndrome
Conductive hearing impairment, Hearing impairment, Optic atrophy, Microtia ORPHA:2135
Waardenburg Syndrome
Conductive hearing impairment, Hearing impairment, Aganglionic megacolon ORPHA:3440
Craniometaphyseal Dysplasia, Autosomal Recessive
Facial palsy, Mixed hearing impairment, Optic atrophy OMIM:218400
Proximal 16P11.2 Microdeletion Syndrome
Conductive hearing impairment, Sensorineural hearing impairment ORPHA:261197
Van Maldergem Syndrome 2
Conductive hearing impairment, Atresia of the external auditory canal, Sensorineural hearing impa... OMIM:615546
Down Syndrome
Conductive hearing impairment, Round ear, Aganglionic megacolon ORPHA:870
Gorlin-Chaudhry-Moss Syndrome
Conductive hearing impairment ORPHA:2095
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic nerve hypoplasia, De... ORPHA:101085
Van Maldergem Syndrome 1
Conductive hearing impairment, Atresia of the external auditory canal, Sensorineural hearing impa... OMIM:601390
Giant Cell Arteritis
Conductive hearing impairment, Hearing impairment, Vertigo, Optic atrophy ORPHA:397
Branchio-Oculo-Facial Syndrome
Conductive hearing impairment, Low-set, posteriorly rotated ears, Abnormality of the pinna ORPHA:1297
Adult-Onset Autosomal Dominant Leukodystrophy
Autonomic bladder dysfunction, Orthostatic hypotension, Abnormal autonomic nervous system physiol... ORPHA:99027
Kapur-Toriello Syndrome
Low-set ears, Conductive hearing impairment OMIM:244300
Otopalatodigital Syndrome, Type I
Conductive hearing impairment OMIM:311300
Multiple Pterygium-Malignant Hyperthermia Syndrome
Posteriorly rotated ears, Conductive hearing impairment ORPHA:2215
Apert Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Morphological abnormality of the... ORPHA:87
2Q37 Microdeletion Syndrome
Conductive hearing impairment ORPHA:1001
Postaxial Acrofacial Dysostosis
Low-set ears, Cupped ear, Conductive hearing impairment OMIM:263750
Autosomal Recessive Multiple Pterygium Syndrome
Low-set ears, Hearing impairment, Conductive hearing impairment, Hearing abnormality ORPHA:2990
Branchiooculofacial Syndrome
Overfolded helix, Conductive hearing impairment, Abnormality of the dentition, Low-set ears, Post... OMIM:113620
Infantile Krabbe Disease
Hearing impairment, Prolonged brainstem auditory evoked potentials, Optic atrophy, Decreased nerv... ORPHA:206436
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Conductive hearing impairment, Atresia of the external auditory canal OMIM:106260
Congenital Disorder Of Glycosylation, Type Iit
Conductive hearing impairment, Low-set, posteriorly rotated ears OMIM:618885
Immunodeficiency 23
Conductive hearing impairment, Sensorineural hearing impairment OMIM:615816
Hereditary Pheochromocytoma-Paraganglioma
Conductive hearing impairment, Paroxysmal vertigo, Cranial nerve compression, Pulsatile tinnitus ORPHA:29072
Mucopolysaccharidosis Type 3
Thickened helices, Abnormality of the middle ear ossicles, Conductive hearing impairment, Chronic... ORPHA:581
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
Mixed hearing impairment OMIM:603463
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Low-set ears, Sensorineural hearing impairment, Conductive hearing impairment OMIM:235510
Trisomy 10P
Low voltage EEG, Macrotia, EEG with burst suppression, Low-set ears, Posteriorly rotated ears, Ab... ORPHA:171929
Pgm3-Cdg
Conductive hearing impairment, Mild neurosensory hearing impairment, Sensorineural hearing impair... ORPHA:443811
Cockayne Syndrome Type 1
Macrotia, Hearing impairment, Absent brainstem auditory responses, Abnormality of peripheral nerv... ORPHA:90321
Brittle Cornea Syndrome
Conductive hearing impairment, Sensorineural hearing impairment ORPHA:90354
Oculodentodigital Dysplasia
Conductive hearing impairment, External ear malformation, Hearing impairment, Abnormality of the ... ORPHA:2710
Meier-Gorlin Syndrome 6
Posteriorly rotated ears, Stenosis of the external auditory canal, Conductive hearing impairment,... OMIM:616835
Cerebrofacioarticular Syndrome
Conductive hearing impairment, Microtia ORPHA:314679
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Conductive hearing impairment, Sensorineural hearing impairment, Mixed hearing impairment, Overfo... OMIM:300990
Fanconi Anemia, Complementation Group F
Conductive hearing impairment, Microtia OMIM:603467
Hemifacial Microsomia
Anotia, Unilateral external ear deformity, Conductive hearing impairment, Atresia of the external... OMIM:164210
Beckwith-Wiedemann Syndrome
Otosclerosis, Macroglossia, Posterior helix pit, Wide mouth, Large intestinal polyposis, Cleft pa... ORPHA:116
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Low-set ears, Cupped ear, Mixed hearing impairment OMIM:615560
Larsen Syndrome
Conductive hearing impairment ORPHA:503
Osteopathia Striata With Cranial Sclerosis
Overfolded helix, Conductive hearing impairment, Low-set ears, Posteriorly rotated ears, Facial p... OMIM:300373
Shprintzen-Goldberg Syndrome
Low-set ears, Posteriorly rotated ears, Conductive hearing impairment, Protruding ear ORPHA:2462
Frontorhiny
Congenital conductive hearing impairment, Low-set, posteriorly rotated ears ORPHA:391474
Acrofacial Dysostosis 1, Nager Type
Conductive hearing impairment, Atresia of the external auditory canal, Aganglionic megacolon, Low... OMIM:154400
Codas Syndrome
Crumpled ear, Sensorineural hearing impairment, Conductive hearing impairment OMIM:600373
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Conductive hearing impairment, Recurrent otitis media OMIM:250420
Multiple Pterygium Syndrome, Escobar Variant
Low-set ears, Conductive hearing impairment, Exostosis of the external auditory canal OMIM:265000
Mohr Syndrome
Conductive hearing impairment OMIM:252100
Shprintzen-Goldberg Craniosynostosis Syndrome
Conductive hearing impairment, Low-set, posteriorly rotated ears, Abnormality of the pinna OMIM:182212
Cornelia De Lange Syndrome 1
Conductive hearing impairment, Abnormal incisura morphology, Low-set ears, Sensorineural hearing ... OMIM:122470
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Prominent antihelix, Conductive hearing impairment, Abnormality of the outer ear, Posteriorly rot... ORPHA:466943
Otopalatodigital Syndrome, Type Ii
Low-set ears, Posteriorly rotated ears, Conductive hearing impairment OMIM:304120
Baller-Gerold Syndrome
Conductive hearing impairment ORPHA:1225
Bosma Arhinia Microphthalmia Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Abnormality of the pinna, ... OMIM:603457
Kabuki Syndrome
Macrotia, Conductive hearing impairment, Sensorineural hearing impairment, EEG abnormality, Protr... ORPHA:2322
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Sensorineural hearing impairment, Mixed hearing impairment OMIM:215150
Alpha-Mannosidosis, Adult Form
Mixed hearing impairment, Optic disc pallor ORPHA:309288
Leukocyte Adhesion Deficiency Type Ii
Conductive hearing impairment, Small earlobe, Recurrent otitis media, Microtia ORPHA:99843
Acro-Renal-Ocular Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Aganglionic megacolon, Optic dis... ORPHA:959
Cerebrotendinous Xanthomatosis
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Optic neuropathy, Decrease... ORPHA:909
Cockayne Syndrome Type 3
Adult onset sensorineural hearing impairment, Macrotia, Conductive hearing impairment, Abnormalit... ORPHA:90324
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Conductive hearing impairment, Overfolded helix OMIM:280000
Frontometaphyseal Dysplasia
Conductive hearing impairment, Hearing impairment, Sensorineural hearing impairment, Mixed hearin... ORPHA:1826
Cockayne Syndrome A
Abnormality of the pinna, Abnormal auditory evoked potentials, Sensorineural hearing impairment, ... OMIM:216400
Orofaciodigital Syndrome Type 6
Conductive hearing impairment, Low-set, posteriorly rotated ears ORPHA:2754
Trisomy 8P
Posteriorly rotated ears, Morphological abnormality of the middle ear, Aplasia/Hypoplasia of the ... ORPHA:264450
Warburg-Cinotti Syndrome
Hypoplasia of the ear cartilage, Conductive hearing impairment, Atresia of the external auditory ... OMIM:618175
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Conductive hearing impairment, Recurrent otitis media ORPHA:2502
Cerebrocostomandibular Syndrome
Conductive hearing impairment, Atresia of the external auditory canal ORPHA:1393
Kyphoscoliotic Ehlers-Danlos Syndrome
Low-set ears, Hearing impairment, Sensorineural hearing impairment, Conductive hearing impairment ORPHA:536545
Mucolipidosis Type Ii
Conductive hearing impairment, Sensorineural hearing impairment, Otitis media ORPHA:576
Oculodentodigital Dysplasia
Conductive hearing impairment, Abnormality of the pinna OMIM:164200
Treacher-Collins Syndrome
Microtia, Conductive hearing impairment, Abnormality of the middle ear, Narrow internal auditory ... ORPHA:861
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Conductive hearing impairment, Low-set, posteriorly rotated ears, Cupped ear, Hearing impairment,... ORPHA:444077
Frontometaphyseal Dysplasia 2
Low-set ears, Abnormality of the pinna, Sensorineural hearing impairment, Conductive hearing impa... OMIM:617137
Cockayne Syndrome B
Abnormality of the pinna, Abnormal auditory evoked potentials, Sensorineural hearing impairment, ... OMIM:133540
Hajdu-Cheney Syndrome
Low-set ears, Conductive hearing impairment, Large earlobe OMIM:102500
Feingold Syndrome Type 1
Conductive hearing impairment, Sensorineural hearing impairment ORPHA:391641
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormality of the antihelix, Conductive hearing impairment, Abnormality of the pinna, Low-set ea... ORPHA:95699
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Conductive hearing impairment, Sensorineural hearing impairment, Optic nerve hypoplasia, Protrudi... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Conductive hearing impairment, Sensorineural hearing impairment, Optic nerve hypoplasia, Protrudi... ORPHA:352665
Leprosy
Abnormality of the seventh cranial nerve, Enlarged peripheral nerve, Abnormal autonomic nervous s... ORPHA:548
Monosomy 18Q
Bilateral conductive hearing impairment, Sensorineural hearing impairment, Macrotia ORPHA:1600
Hunter-Macdonald Syndrome
Conductive hearing impairment, Sensorineural hearing impairment OMIM:611962
Non-Specific Syndromic Intellectual Disability
Conductive hearing impairment, Hearing impairment, Papilledema, Macrotia ORPHA:528084
22Q11.2 Deletion Syndrome
Small earlobe, Overfolded helix, Conductive hearing impairment, Chronic otitis media, Aganglionic... ORPHA:567
3Mc Syndrome 1
Conductive hearing impairment OMIM:257920
Treacher Collins Syndrome 1
Conductive hearing impairment, Atresia of the external auditory canal, Microtia OMIM:154500
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Conductive hearing impairment, Protruding ear ORPHA:1071
Hennekam Syndrome
Low-set ears, External ear malformation, Conductive hearing impairment ORPHA:2136
Opitz Gbbb Syndrome, Type Ii
Posteriorly rotated ears, Conductive hearing impairment OMIM:145410
Larsen Syndrome
Conductive hearing impairment OMIM:150250
Orofaciodigital Syndrome Type 4
Conductive hearing impairment, Abnormality of the outer ear, Low-set ears, Posteriorly rotated ea... ORPHA:2753
Lathosterolosis
Conductive hearing impairment OMIM:607330
Lacrimoauriculodentodigital Syndrome
Conductive hearing impairment, Abnormality of the pinna, Low-set ears, Cupped ear, Sensorineural ... ORPHA:2363
Cerebrocostomandibular Syndrome
Low-set ears, Posteriorly rotated ears, Conductive hearing impairment OMIM:117650
Native American Myopathy
Conductive hearing impairment ORPHA:168572
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Bilateral conductive hearing impairment, Hearing impairment ORPHA:488642
Floating-Harbor Syndrome
Posteriorly rotated ears, Recurrent otitis media, Conductive hearing impairment OMIM:136140
Fraser Syndrome 1
Conductive hearing impairment, Atresia of the external auditory canal, Morphological abnormality ... OMIM:219000
Raine Syndrome
Abnormality of the pinna, Low-set ears, Posteriorly rotated ears, Protruding ear, Mixed hearing i... OMIM:259775
Turnpenny-Fry Syndrome
Low-set ears, Conductive hearing impairment, Microtia OMIM:618371
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials ORPHA:401973
Distal Monosomy 12Q
Low-set ears, Prominent ear helix, Microtia, Bilateral conductive hearing impairment ORPHA:96149
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Conductive hearing impairment, Low-set, posteriorly rotated ears ORPHA:306542
1P36 Deletion Syndrome
Conductive hearing impairment, Low-set, posteriorly rotated ears, Sensorineural hearing impairmen... ORPHA:1606
15Q Overgrowth Syndrome
Low-set, posteriorly rotated ears, Abnormality of the outer ear, Low-set ears, Posteriorly rotate... ORPHA:314585
Baller-Gerold Syndrome
Conductive hearing impairment, Low-set, posteriorly rotated ears, Optic atrophy OMIM:218600
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Conductive hearing impairment, Calcification of the auricular cartilage, Macrotia ORPHA:3042
Cardiac-Valvular Ehlers-Danlos Syndrome
Severe conductive hearing impairment ORPHA:230851
Fontaine Progeroid Syndrome
Posteriorly rotated ears, Conductive hearing impairment, Low-set ears OMIM:612289
Wolf-Hirschhorn Syndrome
Conductive hearing impairment, Abnormality of the pinna, Sensorineural hearing impairment, Stenos... OMIM:194190
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Conductive hearing impairment, Sensorineural hearing impairment, EEG abnormality, Otitis media ORPHA:353281
Chromosome 1P36 Deletion Syndrome
Thickened helices, Asymmetry of the ears, Hypsarrhythmia, Conductive hearing impairment, Posterio... OMIM:607872
Fraser Syndrome
Conductive hearing impairment, Low-set, posteriorly rotated ears, Atresia of the external auditor... ORPHA:2052
Brachytelephalangic Chondrodysplasia Punctata
Mixed hearing impairment, Optic nerve hypoplasia ORPHA:79345
Orofaciodigital Syndrome Type 2
Conductive hearing impairment, Protruding ear ORPHA:2751
Hutchinson-Gilford Progeria Syndrome
Conductive hearing impairment, Low-frequency sensorineural hearing impairment, High-frequency sen... ORPHA:740
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Conductive hearing impairment, Microtia OMIM:129900
Alpha-Mannosidosis, Infantile Form
Sensorineural hearing impairment, Mixed hearing impairment, Otitis media, Optic disc pallor ORPHA:309282
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Conductive hearing impairment, Low-set ears, Sensorineural hearing impairment, EEG abnormality, O... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Conductive hearing impairment, Low-set ears, Sensorineural hearing impairment, EEG abnormality, O... ORPHA:353277
Acrofrontofacionasal Dysostosis 1
Optic atrophy, Mixed hearing impairment OMIM:201180
Floating-Harbor Syndrome
Low-set ears, Conductive hearing impairment, Cochlear malformation ORPHA:2044
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Low-set ears, Posteriorly rotated ears, Mixed hearing impairment, Peripapillary atrophy ORPHA:536467
Cornelia De Lange Syndrome
Macrotia, Conductive hearing impairment, Low-set, posteriorly rotated ears, Atresia of the extern... ORPHA:199
Pseudoaminopterin Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of the antihelix, Absent earlobe, Mild conductive h... ORPHA:221120
Peters Plus Syndrome
Microtia, second degree, Low-set, posteriorly rotated ears, Optic atrophy, Conductive hearing imp... ORPHA:709
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Conductive hearing impairment, Simple ear OMIM:201750
Sotos Syndrome
Conductive hearing impairment, Chronic otitis media, Aganglionic megacolon, Hearing impairment, C... ORPHA:821
Mowat-Wilson Syndrome
Uplifted earlobe, EEG with spike-wave complexes, Conductive hearing impairment, Recurrent otitis ... ORPHA:2152
Robinow Syndrome
Low-set ears, Posteriorly rotated ears, Mixed hearing impairment ORPHA:97360
Branchioskeletogenital Syndrome
Mixed hearing impairment, Large earlobe, Attached earlobe ORPHA:1299
Spondylocarpotarsal Synostosis Syndrome
Sensorineural hearing impairment, Mixed hearing impairment OMIM:272460
Osteogenesis Imperfecta
Hearing impairment, Mixed hearing impairment, Progressive hearing impairment ORPHA:666
Focal Dermal Hypoplasia
Abnormality of the pinna, Low-set ears, Stenosis of the external auditory canal, Mixed hearing im... OMIM:305600
Charge Syndrome
Cupped ear, Facial palsy, Mixed hearing impairment, Lop ear, Microtia OMIM:214800
Lacrimoauriculodentodigital Syndrome
Cupped ear, Mixed hearing impairment 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, Targeting vectors, ES Cells

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