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Gene: Hmx1 MGI:107178

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
H6 homeobox 1
Synonyms:
Nkx5-3

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Hmx1 mutations

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

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

The table below shows human diseases associated to Hmx1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Oculoauricular Syndrome
Phthisis bulbi, Macular hypoplasia, Low-set ears, Microphakia, Microphthalmia, Stenosis of the ex... OMIM:612109

The table below shows human diseases predicted to be associated to Hmx1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the stapes, External ear malformation, Conductive hearing impairment, Aplasia/Hypo... ORPHA:3232
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ... OMIM:128980
Fryns Microphthalmia Syndrome
Anophthalmia, Abnormality of the ear, Neural tube defect, Microphthalmia, Macrotia OMIM:600776
Deafness, Progressive, With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment OMIM:601449
Progressive Deafness With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment ORPHA:3235
Craniotelencephalic Dysplasia
Low-set, posteriorly rotated ears, Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, M... ORPHA:1528
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Low-set ears OMIM:616570
2Q24 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Microphthalmia, Failure to thrive, Small for gestational age ORPHA:1617
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... ORPHA:90646
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Gombo Syndrome
Microphthalmia OMIM:233270
Deafness, X-Linked 7
Posteriorly rotated ears, Unilateral microphthalmos, Atresia of the external auditory canal, Sten... OMIM:301018
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Large for gestational age ORPHA:2432
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Holoprosencephaly, Anophthalmia, Bilateral microphthalmos OMIM:611638
Bresek Syndrome
Optic nerve hypoplasia, Hydrocephalus, Protruding ear, Low-set ears, Neonatal death, Microphthalm... ORPHA:85284
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Pierpont Syndrome
Posteriorly rotated ears, Small for gestational age, Uplifted earlobe, Microphthalmia, Macrotia, ... ORPHA:487825
Hartsfield Syndrome
Low-set, posteriorly rotated ears, Microphthalmia, Encephalocele, Lobar holoprosencephaly ORPHA:2117
Microphthalmia, Syndromic 13
Anteverted ears, Microphthalmia OMIM:300915
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Low-set ears, Microphthalmia OMIM:613885
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Cofs Syndrome
Microphthalmia, Sensorineural hearing impairment, Death in infancy ORPHA:1466
Microphthalmia, Syndromic 12
Neonatal death, Microphthalmia, Anophthalmia OMIM:615524
Pierpont Syndrome
Posteriorly rotated ears, Large fleshy ears, Decreased body weight, Microphthalmia, Failure to th... OMIM:602342
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Stapes Ankylosis With Broad Thumbs And Toes
Conductive hearing impairment, Stapes ankylosis, Congenital stapes ankylosis OMIM:184460
Warburg Micro Syndrome 1
Microphthalmia, Failure to thrive, Macrotia, Low-set ears OMIM:600118
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Hearing impairment OMIM:120433
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Small for gestational age OMIM:278780
Ring Chromosome 10 Syndrome
Cachexia, Abnormal antihelix morphology, Large earlobe, Low-set ears, Microphthalmia ORPHA:1438
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Congenital Toxoplasmosis
Microphthalmia, Hydrocephalus, Failure to thrive in infancy, Hearing impairment ORPHA:858
Bartsocas-Papas Syndrome 2
Microphthalmia, Overfolded helix, Wide anterior fontanel, Low-set ears OMIM:619339
Nanophthalmos
Microphthalmia ORPHA:35612
Biemond Syndrome Type 2
Microphthalmia, Hydrocephalus, Obesity ORPHA:141333
Symphalangism, Proximal, 1A
Conductive hearing impairment, Stapes ankylosis OMIM:185800
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Failure to thrive OMIM:274270
Frontonasal Dysplasia 3
Microphthalmia, Posteriorly rotated ears, Low-set ears OMIM:613456
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Small for gestational age, Hearing impairment, Death in childhood OMIM:610756
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Frontonasal Dysplasia 1
Anterior basal encephalocele, Low-set ears, Conductive hearing impairment, Microphthalmia, Craniu... OMIM:136760
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Hydrocephalus, Large earlobe OMIM:602501
Braddock-Carey Syndrome 2
Microphthalmia, Atresia of the external auditory canal, Hearing impairment OMIM:619981
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Hearing impairment OMIM:610023
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Nanophthalmos 4
Microphthalmia OMIM:615972
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Microphthalmia, Death in infancy OMIM:613730
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Occipital encephalocele, Hydrocephalus ORPHA:324416
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia, Hydrocephalus, Low-set ears, Death in infancy ORPHA:163966
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Hydrocephalus OMIM:614830
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
Craniotelencephalic Dysplasia
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia OMIM:218670
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Hydrolethalus
Low-set, posteriorly rotated ears, Anophthalmia, Hydrocephalus, Anencephaly, Low-set ears, Microp... ORPHA:2189
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Posteriorly rotated ears, Optic nerve hypoplasia, Bilateral microphthalmos, Low-set ears, Ethmoid... OMIM:607597
Temtamy Syndrome
Microphthalmia, Low-set ears ORPHA:1777
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Kapur-Toriello Syndrome
Posteriorly rotated ears, Atresia of the external auditory canal, Low-set ears, Microphthalmia, F... ORPHA:2328
Joubert Syndrome 15
Exencephaly OMIM:614464
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Posteriorly rotated ears OMIM:300887
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Macrotia OMIM:619694
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Cat-Eye Syndrome
Microphthalmia, Hearing impairment ORPHA:195
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Microtia ORPHA:2547
Baraitser-Winter Syndrome 2
Microphthalmia, Abnormal pinna morphology, Hearing impairment OMIM:614583
Cerebrooculofacioskeletal Syndrome 4
Posteriorly rotated ears, Failure to thrive in infancy, Bilateral microphthalmos, Low-set ears, D... OMIM:610758
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Sandestig-Stefanova Syndrome
Small for gestational age, Low-set ears, Angulated antihelix, Microphthalmia, Underdeveloped tragus OMIM:618804
Monosomy 18P
Protruding ear, Abnormal antihelix morphology, Holoprosencephaly, Microphthalmia, Macrotia ORPHA:1598
Adams-Oliver Syndrome 2
Microphthalmia, Hydrocephalus, Low-set ears, Protruding ear OMIM:614219
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos, Simple ear OMIM:619318
Subaortic Stenosis-Short Stature Syndrome
Low-set, posteriorly rotated ears, Microphthalmia, Obesity ORPHA:3191
Joubert Syndrome 37
Microphthalmia, Posteriorly rotated ears, Obesity, Low-set ears OMIM:619185
Cerebrooculofacioskeletal Syndrome 1
Small for gestational age, Sensorineural hearing impairment, Abnormality of the ear, Death in chi... OMIM:214150
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Abnormal antihelix morphology, Low-set ears, Thickened helices, M... ORPHA:85194
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Nance-Horan Syndrome
Microphthalmia, Protruding ear ORPHA:627
Mmep Syndrome
Microphthalmia ORPHA:3434
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Low-set ears ORPHA:93267
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Posteriorly rotated ears, Microphthalmia, Congenital sensorineural hearing impairment, Decreased ... OMIM:617306
Otosclerosis 1
Conductive hearing impairment, Otosclerosis OMIM:166800
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Hydrocephalus, Low-set ears OMIM:300863
Rodrigues Blindness
Microphthalmia, Protruding ear OMIM:268320
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hydrocephalus, Obesity OMIM:601794
Oculocerebrocutaneous Syndrome
Microphthalmia, Orbital encephalocele, Anophthalmia OMIM:164180
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia, Sensorineural hearing impairment ORPHA:1473
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia, Failure to thrive, Low-set ears OMIM:612379
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Heart And Brain Malformation Syndrome
Attached earlobe, Posteriorly rotated ears, Wide anterior fontanel, Low-set ears, Microphthalmia OMIM:616920
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Cupped ear, Low-set ears OMIM:167730
Frontorhiny
Low-set, posteriorly rotated ears, Encephalocele, Basal encephalocele, Cranium bifidum occultum, ... ORPHA:391474
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Sensorineural hearing impairment, Low-set ears OMIM:618652
Joubert Syndrome 14
Encephalocele, Posteriorly rotated ears, Hydrocephalus, Meningocele, Low-set ears, Microphthalmia OMIM:614424
Gracile Bone Dysplasia
Death in infancy, Hydrocephalus, Aniridia, Microphthalmia, Failure to thrive OMIM:602361
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Hydrocephalus, Death in childhood OMIM:613153
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Microphthalmia, Low-set ears ORPHA:228390
Trisomy 13
Anophthalmia, Sensorineural hearing impairment, Aplasia/Hypoplasia of the iris, Abnormal antiheli... ORPHA:3378
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death, Microtia OMIM:619817
Lissencephaly 8
Microphthalmia, Occipital encephalocele OMIM:617255
Baraitser-Winter Syndrome 1
Sensorineural hearing impairment, Low-set ears, Microphthalmia, Overfolded helix, Failure to thrive OMIM:243310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Death in infancy, Optic nerve hypoplasia, Hydrocephalus, Microtia, Low-set ears, D... OMIM:614643
Stevenson-Carey Syndrome
Microphthalmia, Posteriorly rotated ears, Low-set ears OMIM:611961
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Stapes ankylosis, Low-set ears, Lobar holoprosencephaly OMIM:614701
Matthew-Wood Syndrome
Microphthalmia, Failure to thrive, Anophthalmia, Low-set ears ORPHA:2470
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Posteriorly rotated ears, Exencephaly, Low-set ears ORPHA:2211
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Multiple Synostoses Syndrome 4
Otosclerosis OMIM:617898
Microcephaly-Micromelia Syndrome
Neonatal death, Microphthalmia, Aqueductal stenosis, Low-set ears OMIM:251230
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Temtamy Syndrome
Microphthalmia, Lop ear, Low-set ears OMIM:218340
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Microphthalmia With Limb Anomalies
Anophthalmia, Posteriorly rotated ears, Low-set ears, Microphthalmia, Failure to thrive OMIM:206920
Trichothiodystrophy 3, Photosensitive
Microphthalmia, Failure to thrive, Low-set ears, Hearing impairment OMIM:616395
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia, Macrotia, Low-set ears OMIM:615145
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Hydrocephalus OMIM:613155
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Posteriorly rotated ears, Low-set ears, Recurrent otitis media, Microphthalmia, Hearing impairment OMIM:618494
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma, Umbilical hernia, Cupped ear OMIM:618914
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Microphthalmia OMIM:611134
Otosclerosis 10
Otosclerosis OMIM:615589
Nasopalpebral Lipoma-Coloboma Syndrome
Abnormality of cartilage of external ear, Bilateral microphthalmos, Cupped ear, Low-set ears, Mic... ORPHA:2399
Meckel Syndrome, Type 2
Encephalocele, Microphthalmia, Meningocele, Anencephaly OMIM:603194
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia, Protruding ear OMIM:152950
Meckel Syndrome, Type 5
Microphthalmia, Occipital encephalocele, Anencephaly OMIM:611561
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia OMIM:615181
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Hydrocephalus, Holoprosencephaly, Microphthalmia, Hearing impairment ORPHA:77298
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Sensorineural hearing impairment ORPHA:290
Walker-Warburg Syndrome
Anophthalmia, Posteriorly rotated ears, Hydrocephalus, Protruding ear, Low-set ears, Microphthalmia ORPHA:899
Multiple Benign Circumferential Skin Creases On Limbs
Low-set, posteriorly rotated ears, Microphthalmia, Umbilical hernia, External ear malformation ORPHA:2505
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Sensorineural hearing impairment, Hydrocephalus, Abnormally large globe OMIM:615249
Trichothiodystrophy 1, Photosensitive
Death in infancy, Small for gestational age, Protruding ear, Microphthalmia, Macrotia OMIM:601675
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Failure to thrive in infancy OMIM:618805
Stromme Syndrome
Optic nerve hypoplasia, Hydrocephalus, Stillbirth, Low-set ears, Microphthalmia OMIM:243605
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Seckel Syndrome 2
Microphthalmia, Small for gestational age OMIM:606744
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microtia, Recurrent otitis media, Microphthalmia, Abnormality of the outer ear, Hearing impairment ORPHA:2728
3Q29 Microduplication Syndrome
Obesity, Low-set ears, Aniridia, Microphthalmia, Hearing impairment ORPHA:251038
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Obesity ORPHA:363741
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia, Hearing impairment, Protruding ear ORPHA:1806
Vacterl With Hydrocephalus
Anophthalmia, Microtia, third degree, Spina bifida, Aqueductal stenosis, Hydrocephalus, Anotia, M... ORPHA:3412
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia, Decreased body weight OMIM:614833
Rere-Related Neurodevelopmental Syndrome
Low-set, posteriorly rotated ears, Microphthalmia, Hearing impairment ORPHA:494344
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Small for gestational age, Posteriorly rotated ears, Anencephaly, Microphthalmia, ... OMIM:619148
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Microtia, Cupped ear, Hearing abnormality ORPHA:1352
Pseudotrisomy 13 Syndrome
Encephalocele, Posteriorly rotated ears, Hydrocephalus, Holoprosencephaly, Low-set ears, Micropht... OMIM:264480
Multiple Synostoses Syndrome 1
Conductive hearing impairment, Stapes ankylosis, Bilateral conductive hearing impairment, Progres... OMIM:186500
Moebius Syndrome
Microphthalmia, Abnormal pinna morphology OMIM:157900
Xq21 Microdeletion Syndrome
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Obesity, A... ORPHA:1435
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Fanconi Anemia, Complementation Group I
Conductive hearing impairment, Microphthalmia, Optic nerve hypoplasia, Decreased body weight OMIM:609053
Otodental Syndrome
High-frequency sensorineural hearing impairment, Lens coloboma, Otitis media with effusion, Progr... ORPHA:2791
Schinzel-Giedion Syndrome
Abnormality of the stapes, Failure to thrive in infancy, Wide anterior fontanel, Abnormal cochlea... ORPHA:798
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Microtia, Holoprosencephaly, Low-set ears OMIM:612530
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia, Overfolded helix, Posteriorly rotated ears, Low-set ears OMIM:156610
Marden-Walker Syndrome
Microphthalmia, Wide anterior fontanel, Low-set ears OMIM:248700
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos, Low-set ears, Umbilical hernia, Macrotia, Hearing impairment ORPHA:369891
Fetal Alcohol Syndrome
Low-set, posteriorly rotated ears, Microphthalmia ORPHA:1915
Joubert Syndrome 2
Encephalocele, Hydrocephalus, Low-set ears, Microphthalmia, Failure to thrive OMIM:608091
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Low-set ears, Protruding ear OMIM:618571
Pelvis-Shoulder Dysplasia
Abnormal pinna morphology, Spina bifida, Hydrocephalus, Bilateral microphthalmos, Microtia, Hydra... ORPHA:2839
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia, Posteriorly rotated ears, Low-set ears OMIM:241410
Cousin Syndrome
Posteriorly rotated ears, Hydrocephalus, Low-set ears, Hydranencephaly, Microphthalmia, Stenosis ... OMIM:260660
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Ritscher-Schinzel Syndrome 3
Microphthalmia, Wide anterior fontanel, Death in infancy OMIM:619135
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia, Microtia, Hydrocephalus ORPHA:3301
Nance-Horan Syndrome
Microphthalmia, Macrotia OMIM:302350
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia, Low-set ears, Protruding ear OMIM:620098
3Q29 Microdeletion Syndrome
Microphthalmia, Failure to thrive, Macrotia, Low-set ears ORPHA:65286
Ohdo Syndrome, X-Linked
Posteriorly rotated ears, Microtia, Low-set ears, Decreased body weight, Microphthalmia, Stenosis... OMIM:300895
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Occipital encephalocele, Hydrocephalus, Optic nerve hypoplasia ORPHA:370959
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Anotia, Microtia, Atresia of the external auditory canal, Microphthalmia, Hearing ... ORPHA:268249
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Low-set ears ORPHA:404440
Mullegama-Klein-Martinez Syndrome
Sensorineural hearing impairment, Absent stapes, Microtia, Atresia of the external auditory canal... OMIM:301022
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Hydrocephalus, Buphthalmos... OMIM:236670
Warburg Micro Syndrome 2
Microphthalmia, Macrotia, Asymmetry of the ears OMIM:614225
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Abnormal pinna morphology, Wide anterior fontanel, Microtia, Low-set ears, Neonatal death, Microp... OMIM:617925
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia, Failure to thrive, Large earlobe, Low-set ears OMIM:257850
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Unilateral microphthalmos OMIM:615085
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Sensorineural hearing impairment, Anophthalmia ORPHA:139471
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia, Sensorineural hearing impairment, Abnormal pinna morphology, Low-set ears ORPHA:35173
Joubert Syndrome 22
Microphthalmia OMIM:615665
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia, Macrotia OMIM:234050
Warburg Micro Syndrome 3
Microphthalmia, Macrotia OMIM:614222
Micro Syndrome
Low-set, posteriorly rotated ears, Microphthalmia, Macrotia ORPHA:2510
Trisomy 18
Low-set, posteriorly rotated ears, Cachexia, Spina bifida, Anencephaly, Pointed helix, Holoprosen... ORPHA:3380
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia, Wide anterior fontanel ORPHA:163649
Oculoauricular Syndrome
Phthisis bulbi, Macular hypoplasia, Low-set ears, Microphakia, Microphthalmia, Stenosis of the ex... OMIM:612109
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Low-set, posteriorly rotated ears, Cranium bifidum occultum, Conductive hearing impairment, Micro... ORPHA:306542
Fanconi Anemia, Complementation Group F
Conductive hearing impairment, Microphthalmia, Failure to thrive, Microtia OMIM:603467
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Microphthalmia, Macrotia, Stillbirth OMIM:616300
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Fanconi Anemia, Complementation Group S
Microphthalmia, Failure to thrive OMIM:617883
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia, Failure to thrive, Abnormal pinna morphology, Hearing impairment OMIM:302960
Meckel Syndrome 14
Microphthalmia, Occipital encephalocele, Holoprosencephaly, Low-set ears OMIM:619879
Steinfeld Syndrome
Microphthalmia, Abnormal pinna morphology, Holoprosencephaly, Hearing impairment OMIM:184705
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia, Sensorineural hearing impairment, Low-set ears, Protruding ear OMIM:614230
Kapur-Toriello Syndrome
Conductive hearing impairment, Microphthalmia, Low-set ears OMIM:244300
Basel-Vanagaite-Smirin-Yosef Syndrome
Low-set ears, Microphthalmia, Uplifted earlobe OMIM:616449
Martsolf Syndrome 1
Posteriorly rotated ears, Microphthalmia, Prominent antitragus, Low-set ears OMIM:212720
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Death in infancy, Hydrocephalus, Buphthalmos, Microphthalmia OMIM:613150
Microphthalmia, Lenz Type
Low-set, posteriorly rotated ears, Microphthalmia, External ear malformation, Hearing impairment ORPHA:568
Pallister-Hall Syndrome
Posteriorly rotated ears, Microtia, Atresia of the external auditory canal, Holoprosencephaly, Ne... OMIM:146510
Mend Syndrome
Abnormal auditory evoked potentials, Wide anterior fontanel, Hydrocephalus, Low-set ears, Microph... ORPHA:401973
Monosomy 9Q22.3
Large for gestational age, Hydrocephalus, Umbilical hernia, Low-set ears, Microphthalmia, Thicken... ORPHA:77301
Frontonasal Dysplasia 2
Encephalocele, Microphthalmia, Low-set ears OMIM:613451
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Treacher Collins Syndrome 2
Anotia, Conductive hearing impairment, Fusion of middle ear ossicles, Microtia OMIM:613717
Pelvis-Shoulder Dysplasia
Microphthalmia, Spina bifida occulta OMIM:169550
Monosomy 13Q14
Protruding ear, Holoprosencephaly, Low-set ears, Thickened helices, Microphthalmia ORPHA:1587
Holoprosencephaly-Postaxial Polydactyly Syndrome
Low-set, posteriorly rotated ears, Encephalocele, Hydrocephalus, Umbilical hernia, Holoprosenceph... ORPHA:2166
Microphthalmia With Limb Anomalies
Low-set, posteriorly rotated ears, Death in infancy, Hydrocephalus, Large earlobe, Microphthalmia... ORPHA:1106
Frontofacionasal Dysplasia
Encephalocele, Microphthalmia ORPHA:1791
Cohen Syndrome
Failure to thrive in infancy, Sensorineural hearing impairment, Aplasia/Hypoplasia of the earlobe... ORPHA:193
Adams-Oliver Syndrome
Encephalocele, Microphthalmia, Hydrocephalus, Failure to thrive ORPHA:974
Holoprosencephaly
Encephalocele, Anophthalmia, Failure to thrive in infancy, External ear malformation, Hydrocephal... ORPHA:2162
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia, Holoprosencephaly OMIM:147250
Craniosynostosis And Dental Anomalies
Conductive hearing impairment, Stapes ankylosis, Absent malleus, Chronic otitis media OMIM:614188
Jacobsen Syndrome
Hydrocephalus, Macular hypoplasia, Holoprosencephaly, Low-set ears, Microphthalmia, Failure to th... OMIM:147791
Refsum Disease
Microphthalmia, Sensorineural hearing impairment ORPHA:773
3P25.3 Microdeletion Syndrome
Microphthalmia, Sensorineural hearing impairment, Abnormality of the outer ear ORPHA:435638
Oculo-Palato-Cerebral Syndrome
Thickened helices, Microphthalmia, Macrotia ORPHA:2714
Familial Exudative Vitreoretinopathy
Microphthalmia, Hearing impairment ORPHA:891
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Galloway-Mowat Syndrome 3
Microphthalmia, Failure to thrive, Low-set ears OMIM:617729
Galloway-Mowat Syndrome 1
Small for gestational age, Hypoplasia of the iris, Low-set ears, Microphthalmia, Macrotia OMIM:251300
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Small earlobe, Failure to thrive, Hearing impairment ORPHA:364577
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Momo Syndrome
Bilateral microphthalmos, Underfolded helix, Obesity, Large for gestational age ORPHA:2563
Holoprosencephaly 9
Anophthalmia, Optic nerve hypoplasia, Hydrocephalus, Prominent antihelix, Holoprosencephaly, Micr... OMIM:610829
8Q21.11 Microdeletion Syndrome
Microphthalmia, Low-set ears, Hearing impairment ORPHA:284160
Cockayne Syndrome B
Abnormal pinna morphology, Small for gestational age, Abnormal auditory evoked potentials, Sensor... OMIM:133540
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia, Cupped ear OMIM:110100
Oculofaciocardiodental Syndrome
Microphthalmia, Sensorineural hearing impairment, Hearing impairment ORPHA:2712
Meckel Syndrome
Encephalocele, Low-set, posteriorly rotated ears, Anophthalmia, Hydrocephalus, Anencephaly, Lobar... ORPHA:564
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Failure to thrive, Microtia, Conductive hearing impairment, Mic... ORPHA:861
Focal Dermal Hypoplasia
Spina bifida, Hypoplasia of the iris, Umbilical hernia, Low-set ears, Microphthalmia, Abnormality... ORPHA:2092
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Sensorineural hearing impairment, Buphthalmos OMIM:310600
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Large earlobe, Hypoplasia of the ear cartilage ORPHA:1236
Fanconi Anemia, Complementation Group L
Hydrocephalus, Anotia, Microtia, Low-set ears, Microphthalmia OMIM:614083
Mosaic Trisomy 9
Microphthalmia, Spina bifida, Low-set ears ORPHA:99776
Holoprosencephaly 7
Occipital meningocele, Alobar holoprosencephaly, Hydrocephalus, Bilateral microphthalmos, Lobar h... OMIM:610828
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
1Q21.1 Microdeletion Syndrome
Microphthalmia, Sensorineural hearing impairment, Failure to thrive, Hydrocephalus ORPHA:250989
Hallermann-Streiff Syndrome
Microphthalmia, Spina bifida, Small for gestational age, Low-set ears OMIM:234100
Microphthalmia, Syndromic 9
Neonatal death, Anophthalmia, Bilateral microphthalmos, Low-set ears OMIM:601186
Atelis Syndrome 2
Microphthalmia, Low-set ears, Protruding ear OMIM:620185
Teebi-Shaltout Syndrome
Microphthalmia, Small earlobe, Hypoplastic helices, Low-set ears OMIM:272950
Fraser Syndrome
Low-set, posteriorly rotated ears, Death in infancy, Encephalocele, Anophthalmia, External ear ma... ORPHA:2052
Cat Eye Syndrome
Umbilical hernia, Low-set ears, Microphthalmia, Stenosis of the external auditory canal, Hearing ... OMIM:115470
Fontaine Progeroid Syndrome
Death in infancy, Posteriorly rotated ears, Small for gestational age, Wide anterior fontanel, Co... OMIM:612289
Neu-Laxova Syndrome 1
Hydranencephaly, Spina bifida, Stillbirth, Short umbilical cord, Low-set ears, Small placenta, Ne... OMIM:256520
Mosaic Trisomy 1
Microphthalmia, Abnormal pinna morphology, Low-set ears ORPHA:1692
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Hearing impairment OMIM:166220
Fanconi Anemia, Complementation Group R
Microphthalmia, Hydrocephalus OMIM:617244
Hydrolethalus Syndrome 1
Abnormal pinna morphology, Anencephaly, Stillbirth, Low-set ears, Severe hydrocephalus, Microphth... OMIM:236680
Isolated Arrhinia
Microphthalmia, Microtia ORPHA:1134
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Hydrocephalus OMIM:616538
Bosma Arhinia Microphthalmia Syndrome
Abnormal pinna morphology, Absent tragus, Atresia of the external auditory canal, Conductive hear... OMIM:603457
Fanconi Anemia, Complementation Group E
Microphthalmia, Small for gestational age, Hearing impairment OMIM:600901
Fanconi Anemia, Complementation Group D2
Small for gestational age, Hydrocephalus, Low-set ears, Microphthalmia, Hearing impairment OMIM:227646
Rothmund-Thomson Syndrome, Type 2
Underfolded helix, Small for gestational age, Prominent antihelix, Microphthalmia, Overfolded helix OMIM:268400
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Holoprosencephaly, Atresia of the external auditory canal, Microphthalmia, Abnormality of the out... ORPHA:3186
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Microphthalmia, Hydrocephalus, Holoprosencephaly OMIM:253800
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Fanconi Anemia, Complementation Group A
Microphthalmia, Small for gestational age, Hearing impairment OMIM:227650
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Sensorineural hearing impairment, Slit-like opening of the exterior audito... OMIM:607323
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
17Q24.2 Microdeletion Syndrome
Otosclerosis, Failure to thrive in infancy, Truncal obesity, Microtia, Recurrent otitis media, Pr... ORPHA:529962
Chromosome 13Q14 Deletion Syndrome
Anteverted ears, Umbilical hernia, Holoprosencephaly, Low-set ears, Microphthalmia, Hearing impai... OMIM:613884
Dubowitz Syndrome
Protruding ear, Hypoplasia of the iris, Otitis media, Low-set ears, Microphthalmia OMIM:223370
Fryns Syndrome
Low-set, posteriorly rotated ears, Microphthalmia ORPHA:2059
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Fraser Syndrome 2
Microphthalmia, Atresia of the external auditory canal, Low-set ears OMIM:617666
22Q11.2 Deletion Syndrome
Spina bifida, Hydrocephalus, Meningocele, Overfolded helix, Obesity, Occipital myelomeningocele, ... ORPHA:567
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Fryns Syndrome
Large for gestational age, Stillbirth, Abnormal helix morphology, Low-set ears, Microphthalmia OMIM:229850
Skin Creases, Congenital Symmetric Circumferential, 2
Posteriorly rotated ears, Uplifted earlobe, Microtia, Low-set ears, Microphthalmia, Overfolded helix OMIM:616734
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Mixed hearing impairment, Progressive sensorineural hearing impairment, Severe se... OMIM:620186
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Posteriorly rotated ears, Sensorineural hearing impairment, Low-set ears, Microphthalmia, Failure... OMIM:608670
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Sensorineural hearing impairment OMIM:610651
Monosomy 9P
Abnormal antihelix morphology, Anotia, Microtia, Atresia of the external auditory canal, Low-set ... ORPHA:261112
Osteogenesis Imperfecta, Type I
Otosclerosis, Hearing impairment OMIM:166200
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Low-set ears ORPHA:464738
Curry-Jones Syndrome
Occipital meningocele, Microphthalmia, Lipomyelomeningocele OMIM:601707
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia, Sensorineural hearing impairment OMIM:278730
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia OMIM:617914
Premature Aging Syndrome, Penttinen Type
Microphthalmia, Sensorineural hearing impairment, Failure to thrive OMIM:601812
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Congenital Fibrinogen Deficiency
Microphthalmia ORPHA:335
Fanconi Anemia, Complementation Group C
Microphthalmia, Small for gestational age, Hearing impairment OMIM:227645
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia, Hydrocephalus OMIM:613001
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Microphthalmia, Syndromic 2
Anophthalmia, Posteriorly rotated ears, Asymmetry of the ears, Anteverted ears, Sensorineural hea... OMIM:300166
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Low-set, posteriorly rotated ears, Optic nerve hypoplasia, Bilateral microphthalmos, Lobar holopr... ORPHA:468631
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
2Q31.1 Microdeletion Syndrome
Microphthalmia, Low-set ears ORPHA:251014
Mosaic Variegated Aneuploidy Syndrome
Low-set, posteriorly rotated ears, Microphthalmia, Holoprosencephaly, Hearing impairment ORPHA:1052
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Sensorineural hearing impairment, Bila... OMIM:206900
Renpenning Syndrome 1
Cupped ear, Protruding ear, Death in childhood, Microphthalmia, Macrotia, Hearing impairment OMIM:309500
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Charge Syndrome
Low-set, posteriorly rotated ears, Anophthalmia, External ear malformation, Aqueductal stenosis, ... ORPHA:138
Fraser Syndrome 1
Encephalocele, Anophthalmia, Abnormal pinna morphology, Myelomeningocele, Bilateral microphthalmo... OMIM:219000
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Abnormal pinna morphology, Posteriorly rotated ears, Sensorineural hearing impairment, Low-set ea... OMIM:616975
Oculocerebrorenal Syndrome Of Lowe
Low-set, posteriorly rotated ears, Death in infancy, Protruding ear, Buphthalmos, Umbilical herni... ORPHA:534
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Hydrocephalus, Abnormality of the ear, Abnormal earlobe morphology, Microphthalmia,... ORPHA:2556
Oculodentodigital Dysplasia
Conductive hearing impairment, Microphthalmia, Abnormal pinna morphology OMIM:164200
Fanconi Anemia
Spina bifida, External ear malformation, Hearing abnormality, Hydrocephalus, Weight loss, Aplasia... ORPHA:84
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Failure to thrive OMIM:300952
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Norrie Disease
Failure to thrive, Aplasia/Hypoplasia of the lens, Cachexia, Sensorineural hearing impairment, Pr... ORPHA:649
Papillorenal Syndrome
Microphthalmia, Sensorineural hearing impairment OMIM:120330
Microphthalmia, Syndromic 6
Failure to thrive, Anophthalmia, Posteriorly rotated ears, Uplifted earlobe, Protruding ear, Low-... OMIM:607932
Myhre Syndrome
Small for gestational age, Obesity, Microtia, Low-set ears, Microphthalmia, Hearing impairment OMIM:139210
Tetraamelia Syndrome 1
Microphthalmia, Hydrocephalus, Low-set ears OMIM:273395
Branchiooculofacial Syndrome
Anophthalmia, Posteriorly rotated ears, Sensorineural hearing impairment, Fusion of middle ear os... OMIM:113620
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Mixed hearing impairment OMIM:201180
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Death... OMIM:609049
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia OMIM:120200
Cardiospondylocarpofacial Syndrome
Posteriorly rotated ears, Congenital sensorineural hearing impairment, Fusion of middle ear ossic... OMIM:157800
Generalized Arterial Calcification Of Infancy
Stapes ankylosis, Mixed hearing impairment, Calcification of the auricular cartilage, Failure to ... ORPHA:51608
Acro-Renal-Ocular Syndrome
Conductive hearing impairment, Microphthalmia, Sensorineural hearing impairment, Optic disc hypop... ORPHA:959
Aicardi Syndrome
Microphthalmia, Protruding ear ORPHA:50
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Failure to thrive, Unilateral microphthalmos OMIM:618874
Incontinentia Pigmenti
Microphthalmia, Spina bifida occulta, Umbilical hernia, Hearing abnormality ORPHA:464
Meckel Syndrome, Type 1
Occipital encephalocele, Large placenta, Hydrocephalus, Anencephaly, Low-set ears, Microphthalmia OMIM:249000
Bartsocas-Papas Syndrome 1
Cupped ear, Microphthalmia, Microtia, Low-set ears OMIM:263650
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia, Protruding ear ORPHA:2526
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microphthalmia, Optic nerve hypoplasia, Spina bifida, Hearing impairment ORPHA:508498
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia, Microtia, Low-set ears OMIM:620005
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia, Hydrocephalus, Hearing impairment OMIM:309801
Histiocytoid Cardiomyopathy
Microphthalmia, Hydrocephalus, Failure to thrive, Congenital aphakia ORPHA:137675
Frontofacionasal Dysplasia
Cranium bifidum occultum, Microphthalmia, Hypoplasia of the frontal bone OMIM:229400
Trichothiodystrophy
Umbilical hernia, Bilateral microphthalmos, Bilateral sensorineural hearing impairment, Protrudin... ORPHA:33364
Basal Cell Nevus Syndrome 1
Microphthalmia, Hydrocephalus, Spina bifida OMIM:109400
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Degcags Syndrome
Failure to thrive, Posteriorly rotated ears, Small for gestational age, Hearing impairment, Senso... OMIM:619488
Witteveen-Kolk Syndrome
Branchial fistula, Glue ear, Small for gestational age, Uplifted earlobe, Sensorineural hearing i... OMIM:613406
Roberts Syndrome
External ear malformation, Microphthalmia, Absent earlobe ORPHA:3103
Yunis-Varon Syndrome
Abnormal pinna morphology, Hydrocephalus, Bilateral microphthalmos, Low-set ears, Severe failure ... ORPHA:3472
Cockayne Syndrome Type 3
Conductive hearing impairment, Microphthalmia, Macrotia, Adult onset sensorineural hearing impair... ORPHA:90324
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia, Overfolded helix, Cupped ear, Hearing impairment OMIM:609945
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia ORPHA:91495
Focal Dermal Hypoplasia
Mixed hearing impairment, Anophthalmia, Hydrocephalus, Myelomeningocele, Umbilical hernia, Low-se... OMIM:305600
Craniofacial Microsomia 1
Occipital encephalocele, Anophthalmia, Sensorineural hearing impairment, Hydrocephalus, Branchial... OMIM:164210
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Sensorineural hearing impairment, Protruding ear, Truncal obesity, Low-set ears, Microphthalmia, ... OMIM:612474
Treacher Collins Syndrome 1
Conductive hearing impairment, Atresia of the external auditory canal, Bilateral microphthalmos, ... OMIM:154500
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi OMIM:221900
Roberts-Sc Phocomelia Syndrome
Posteriorly rotated ears, Abnormal pinna morphology, Hydrocephalus, Frontal encephalocele, Stillb... OMIM:268300
Neuroocular Syndrome
Hypoplasia of the fovea, Unilateral deafness, Lens coloboma, Cupped ear, Anterior creases of earl... OMIM:619539
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Small for gestational age OMIM:127000
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Charge Syndrome
Mixed hearing impairment, Anophthalmia, Aplasia of the semicircular canal, Sensorineural hearing ... OMIM:214800
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Failure to thrive, Anophthalmia ORPHA:2538
Beckwith-Wiedemann Syndrome
Otosclerosis, Large for gestational age, Wide anterior fontanel, Large placenta, Abnormal earlobe... ORPHA:116
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Phace Association
Microphthalmia, Optic nerve hypoplasia OMIM:606519
Aicardi Syndrome
Microphthalmia, Spina bifida OMIM:304050
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia OMIM:308300
Cockayne Syndrome
High-frequency sensorineural hearing impairment, Microphthalmia, Cachexia, Progressive sensorineu... ORPHA:191
Townes-Brocks Syndrome
External ear malformation, Abnormal tragus morphology, Microtia, Microphthalmia, Overfolded helix... ORPHA:857
Pallister-Hall Syndrome
Low-set, posteriorly rotated ears, Auricular tag, Large for gestational age, Microtia, Umbilical ... ORPHA:672
8Q24.3 Microdeletion Syndrome
Branchial cyst, Small for gestational age, Posteriorly rotated ears, Optic nerve hypoplasia, Asym... ORPHA:508488
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Lymphedema-Distichiasis Syndrome
Microphthalmia OMIM:153400
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Hallermann-Streiff Syndrome
Microphthalmia ORPHA:2108
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina, Hydrocephalus OMIM:253280
Mowat-Wilson Syndrome
Uplifted earlobe, Cupped ear, Large earlobe, Recurrent otitis media, Microphthalmia OMIM:235730
Proboscis Lateralis
Microphthalmia, Holoprosencephaly, Anophthalmia, Optic nerve hypoplasia ORPHA:141099
Adams-Oliver Syndrome 1
Encephalocele, Microphthalmia OMIM:100300
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Phace Syndrome
Microphthalmia, Lens coloboma, Optic nerve hypoplasia ORPHA:42775
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Phthisis bulbi OMIM:259770
Holoprosencephaly 1
Microphthalmia, Ethmocephaly, Alobar holoprosencephaly OMIM:236100
Lowe Oculocerebrorenal Syndrome
Microphthalmia, Failure to thrive OMIM:309000
Holoprosencephaly 2
Microphthalmia, Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly OMIM:157170
Microphthalmia, Syndromic 1
Anophthalmia, Abnormal pinna morphology, Low-set ears, Recurrent otitis media, Microphthalmia, Ov... OMIM:309800
Mowat-Wilson Syndrome
Posteriorly rotated ears, Uplifted earlobe, Sensorineural hearing impairment, Recurrent otitis me... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Posteriorly rotated ears, Uplifted earlobe, Sensorineural hearing impairment, Recurrent otitis me... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Posteriorly rotated ears, Uplifted earlobe, Sensorineural hearing impairment, Recurrent otitis me... ORPHA:261552
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia, Hydrocephalus OMIM:175780
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos ORPHA:93325

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 Hmx1

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 Hmx1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The transcription factor Hmx1 and growth factor receptor activities control sympathetic neurons diversification. The EMBO journal (April 2013) Hmx1tm1(KOMP)Vlcg PMC3671256

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Hmx1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Hmx1tm278628(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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