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Gene: Ap1s2 MGI:1889383

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Gene Summary

Name:
adaptor-related protein complex 1, sigma 2 subunit
Synonyms:
1500012A13Rik,  EST1

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
impaired pupillary reflex Ap1s2em1(IMPC)Mbp HEM Early adult 8.85×10-09
microphthalmia Ap1s2em1(IMPC)Mbp HOM Early adult 0.00
decreased fasting circulating glucose level Ap1s2em1(IMPC)Mbp HOM   Early adult 3.29×10-05
abnormal eye morphology Ap1s2em1(IMPC)Mbp HOM Early adult 0.00
increased vertical activity Ap1s2em1(IMPC)Mbp HOM   Early adult 1.81×10-08

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

60 Images

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X-ray

XRay Images Whole Body Lateral Orientation

20 Images

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Histopathology

Images

4 Images

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Human diseases caused by Ap1s2 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 Ap1s2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pettigrew Syndrome
Choreoathetosis, Self-injurious behavior, Flexion contracture, Gait ataxia OMIM:304340
Fried Syndrome
Gait disturbance, Aggressive behavior ORPHA:85335
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Gait disturbance, Aggressive behavior ORPHA:85329
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Inguinal hernia ORPHA:1568

The table below shows human diseases predicted to be associated to Ap1s2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy ORPHA:90160
Membranoproliferative Glomerulonephritis, X-Linked
Lipodystrophy OMIM:305800
Drug-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy ORPHA:90157
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Slender build, Failure to thrive, Generalized lipodystrophy, Small for gestational age ORPHA:50811
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Loss of facial adipose tissue, Lipodystrophy, Progressive loss of facial adipose tissue, Loss of ... OMIM:613913
Lipase Deficiency, Combined
Lipodystrophy OMIM:246650
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy ORPHA:90159
Ectodermal Dysplasia, Trichoodontoonychial Type
Lipoatrophy, Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash m... ORPHA:1818
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Loss of gluteal subcutaneous adipose tissue, Increased ... OMIM:608600
Familial Isolated Dilated Cardiomyopathy
Lipoatrophy ORPHA:154
Stiff Skin Syndrome
Lipodystrophy, Elbow flexion contracture, Knee flexion contracture, Camptodactyly OMIM:184900
Growth Factors, Combined Defect Of
Reduced subcutaneous adipose tissue, Lipodystrophy, Flexion contracture OMIM:233805
Congenital Short Bowel Syndrome
Lipoatrophy, Sparse hair ORPHA:2301
Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Lipoatrophy OMIM:613877
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Lipodystrophy, Hirsutism, Generalized lipodystrophy OMIM:612526
Idiopathic Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy ORPHA:90158
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender build, Failure to thrive, Sparse axillary hair, Small for gestational age, Sparse facial ... OMIM:608154
Centrifugal Lipodystrophy
Reduced subcutaneous adipose tissue, Lipoatrophy, Alopecia, Absence of subcutaneous fat, Lack of ... ORPHA:90156
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Loss of gluteal subcutaneous adipose tissue, Lipoatrophy, Lo... ORPHA:280356
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Lipoatrophy, Flexion contracture, Cachexia, Lipodystrophy, W... ORPHA:1979
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Multiple Symmetric Lipomatosis
Multiple lipomas, Abnormal adipose tissue morphology ORPHA:2398
Analbuminemia
Lipodystrophy OMIM:616000
Acquired Partial Lipodystrophy
Generalized hirsutism, Lipoatrophy ORPHA:79087
Rapidly Involuting Congenital Hemangioma
Lipoatrophy ORPHA:141184
Autoinflammatory-Pancytopenia Syndrome
Lipodystrophy, Failure to thrive OMIM:619858
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Lipodystrophy OMIM:212112
Ddost-Cdg
Lipodystrophy, Failure to thrive ORPHA:300536
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Lipodystrophy OMIM:615980
Acute Zonal Occult Outer Retinopathy
Abnormal retinal vascular morphology, Rod-cone dystrophy, Retinal pigment epithelial mottling, Ab... ORPHA:284454
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy ORPHA:79084
Ruijs-Aalfs Syndrome
Lipodystrophy, Decreased body weight, Elbow flexion contracture OMIM:616200
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Ataxia, Microphthalmia OMIM:615771
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Aplasia/Hypoplasia of the eyebrow, Failure to thrive, Lipoatrophy, Sparse hair ORPHA:261304
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Failure to thrive, Generalized hirsutism, Lipoatrophy, Spars... ORPHA:2963
Lipodystrophy, Familial Partial, Type 5
Lipodystrophy OMIM:615238
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Hirsutism, Loss of gluteal subcutaneous adipose tissue, Lipo... OMIM:604367
Acrogeria
Lipoatrophy, Fine hair ORPHA:2500
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Increased intraabdominal fat ORPHA:79085
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Ataxia, Generalized h... ORPHA:363400
Microcephalic Primordial Dwarfism, Montreal Type
Lipoatrophy, Abnormal hair quantity, Shagreen patch, Premature graying of hair, Low posterior hai... ORPHA:2617
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Loss of gluteal subcutaneous adipose tissue, Lipodystro... ORPHA:435660
Cidec-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Lipodystrophy, Loss of subcutaneous adipose tissue i... ORPHA:435651
Nanophthalmos 4
Microphthalmia OMIM:615972
Keppen-Lubinsky Syndrome
Absence of subcutaneous fat, Failure to thrive, Generalized lipodystrophy, Flexion contracture OMIM:614098
C3 Glomerulopathy
Lipodystrophy ORPHA:329918
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Sparse scalp hair, Sparse eyebrow, Flexion contracture, Sparse eyelashes, Lipodystrophy, Atrophic... ORPHA:75496
Proteasome-Associated Autoinflammatory Syndrome 2
Lipodystrophy, Failure to thrive OMIM:618048
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Cherubism
Optic neuropathy, Macular scar, Marcus Gunn pupil OMIM:118400
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia OMIM:613703
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lipodystrophy, Failure to thrive in infancy, Panniculitis OMIM:617099
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Familial Partial Lipodystrophy, Dunnigan Type
Generalized hirsutism, Lipoatrophy, Cellulitis, Lipodystrophy, Loss of subcutaneous adipose tissu... ORPHA:2348
Congenital Generalized Lipodystrophy
Failure to thrive, Hypertrichosis, Low anterior hairline, Lipodystrophy, Adipose tissue loss, Low... ORPHA:528
Gombo Syndrome
Microphthalmia OMIM:233270
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Sparse scalp hair, Decreased body weight, Truncal obesity, L... OMIM:270450
Short Syndrome
Lipodystrophy, Lipoatrophy, Inguinal hernia, Small for gestational age OMIM:269880
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Lipodystrophy, Flexion contracture OMIM:615381
Cutis Laxa, Autosomal Recessive, Type Iia
Failure to thrive, Abnormality of hair texture, Inguinal hernia, Brittle hair, Coarse hair, Lipod... OMIM:219200
Congenital Analbuminemia
Lipodystrophy, Obesity, Small for gestational age ORPHA:86816
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hirsutism, Loss of... OMIM:151660
Proteasome-Associated Autoinflammatory Syndrome 4
Generalized lipodystrophy, Flexion contracture, Panniculitis OMIM:619183
Aredyld Syndrome
Lipoatrophy, Sparse body hair, Cachexia, Aplasia/Hypoplasia of the eyebrow, Abnormal dental ename... ORPHA:1133
Short Syndrome
Sparse hair, Inguinal hernia, Alopecia, Lipodystrophy, Weight loss, Abnormal dental enamel morpho... ORPHA:3163
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Alg3-Cdg
Lipodystrophy, Arthrogryposis multiplex congenita ORPHA:79321
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Becker Nevus Syndrome
Lipoatrophy, Supernumerary nipple ORPHA:64755
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Thick hair, Failure to thrive, Sparse hair, Inguinal hernia, Coarse hair, Polymicrogyria, Lipodys... ORPHA:357074
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Tip-toe gait,... ORPHA:98855
Stiff Skin Syndrome
Lipoatrophy ORPHA:2833
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Primary Lipodystrophy
Lipodystrophy, Lipoatrophy ORPHA:90970
Familial Multiple Lipomatosis
Lipodystrophy, Increased adipose tissue ORPHA:199276
Proteasome-Associated Autoinflammatory Syndrome 3
Lipodystrophy, Failure to thrive, Flexion contracture, Panniculitis OMIM:617591
Mandibuloacral Dysplasia
Increased adipose tissue around the neck, Lipoatrophy, Sparse hair, Alopecia, Increased subcutane... ORPHA:2457
Cimdag Syndrome
Lipodystrophy, Ataxia, Polymicrogyria, Chorea OMIM:619273
X-Linked Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Tip-toe gait,... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Tip-toe gait,... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Tip-toe gait,... ORPHA:98853
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Premature Aging Syndrome, Penttinen Type
Lipoatrophy, Sparse hair OMIM:601812
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Generalized hirsut... ORPHA:280365
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Lipodystrophy, Failure to thrive OMIM:618922
Werner Syndrome
Pili torti, Sparse scalp hair, Slender build, Lipoatrophy, Abnormal hair whorl, Chondrocalcinosis... ORPHA:902
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Mandibuloacral Dysplasia With Type B Lipodystrophy
Sparse hair, Flexion contracture, Alopecia, Brittle hair, Loss of truncal subcutaneous adipose ti... OMIM:608612
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Lipodystrophy ORPHA:300751
Fucosidosis
Failure to thrive, Lipoatrophy ORPHA:349
Ane Syndrome
Multiple joint contractures, Lipoatrophy, Alopecia, Motor deterioration, Motor neuron atrophy ORPHA:157954
Nanophthalmos
Microphthalmia ORPHA:35612
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Sparse scalp hair,... OMIM:248370
Xeroderma Pigmentosum, Complementation Group G
Ataxia, Microphthalmia OMIM:278780
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Microphthalmia OMIM:274270
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Poems Syndrome
Lipodystrophy, Hypertrichosis, Leukonychia, Weight loss ORPHA:2905
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Hirsutism, Failure to thrive, Flexion contracture OMIM:613327
Graft Versus Host Disease
Lipodystrophy, Failure to thrive, Fasciitis, Dupuytren contracture ORPHA:39812
Pparg-Related Familial Partial Lipodystrophy
Loss of facial adipose tissue, Generalized hirsutism, Lipoatrophy, Loss of subcutaneous adipose t... ORPHA:79083
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Dextrocardia With Unusual Facies And Microphthalmia
Choreoathetosis, Anophthalmia, Microphthalmia OMIM:221950
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Attention deficit hyperactivity disorder, Microphthalmia OMIM:617914
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
H Syndrome
Abnormal eyebrow morphology, Hypertrichosis, Alopecia, Camptodactyly, Lipodystrophy, Hernia ORPHA:168569
De Barsy Syndrome
Failure to thrive, Progressive cerebellar ataxia, Sparse hair, Inguinal hernia, Athetosis, Lipody... ORPHA:2962
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia, Ataxia, Dysmetria, Microphthalmia ORPHA:48431
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy, Generalized lipody... OMIM:616914
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormal hair morphology, Generalized lipodystrophy, Nail dystrophy, Alopecia ORPHA:90154
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Sparse scalp hair, Failure to thrive, Sparse hair, Dysmetria... OMIM:606721
Dpagt1-Cdg
Failure to thrive, Head-banging, Ataxia, Hypertrichosis, Inability to walk, Flexion contracture, ... ORPHA:86309
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Keppen-Lubinsky Syndrome
Failure to thrive, Flexion contracture, Lipodystrophy, Congenital generalized lipodystrophy, Loss... ORPHA:435628
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hirsutism, Reduced in... OMIM:608594
Mmep Syndrome
Microphthalmia ORPHA:3434
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Acquired Generalized Lipodystrophy
Generalized hirsutism, Generalized lipodystrophy, Panniculitis ORPHA:79086
Hemihyperplasia-Multiple Lipomatosis Syndrome
Multiple lipomas, Lipoatrophy ORPHA:276280
Congenital Primary Aphakia
Congenital aphakia, Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye ORPHA:83461
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hirsutism, Reduced in... OMIM:269700
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Encephalocraniocutaneous Lipomatosis
Lipodystrophy, Abnormal eyelash morphology, Multiple lipomas, Alopecia ORPHA:2396
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Failure to thrive, Lipoatrophy, Flexion contracture, Alopecia, Sparse eyelashe... OMIM:614008
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Barber-Say Syndrome
Absent nipple, Hypertrichosis, Low anterior hairline, Sparse eyebrow, Sparse eyelashes, Hypoplast... OMIM:209885
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos OMIM:608763
Lmna-Related Cardiocutaneous Progeria Syndrome
Alopecia universalis, Lipoatrophy, Sparse hair, Absent eyebrow, Absent eyelashes, Premature grayi... ORPHA:363618
Proteasome-Associated Autoinflammatory Syndrome 1
Failure to thrive, Hypertrichosis, Flexion contracture of finger, Flexion contracture, Sparse axi... OMIM:256040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Alg9-Cdg
Hypertrichosis, Irritability, Hypoplastic nipples, Lipodystrophy, Omphalocele, Low posterior hair... ORPHA:79328
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia OMIM:615113
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Cofs Syndrome
Microphthalmia ORPHA:1466
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Neonatal Marfan Syndrome
Lipoatrophy, Flexion contracture, Small for gestational age ORPHA:284979
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia OMIM:212550
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Myoclonic-Astatic Epilepsy
Ataxia, Hyperactivity, Attention deficit hyperactivity disorder, Unsteady gait, Microphthalmia ORPHA:1942
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Isolated Optic Nerve Hypoplasia/Aplasia
Optic nerve hypoplasia, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microph... ORPHA:137902
Wrinkly Skin Syndrome
Failure to thrive, Progressive cerebellar ataxia, Sparse hair, Inguinal hernia, Lipodystrophy, Um... ORPHA:2834
Pierpont Syndrome
Microphthalmia ORPHA:487825
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Triokinase And Fmn Cyclase Deficiency Syndrome
Broad-based gait, Microphthalmia OMIM:618805
Osteoporosis-Pseudoglioma Syndrome
Loss of ambulation, Waddling gait, Microphthalmia ORPHA:2788
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
Pierpont Syndrome
Microphthalmia OMIM:602342
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Developmental And Epileptic Encephalopathy 1
Choreoathetosis, Microphthalmia OMIM:308350
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Type I diabetes mellitus, Microphthalmia ORPHA:290
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Atypical Werner Syndrome
Pili torti, Failure to thrive, Decreased body weight, Lipoatrophy, Abnormal hair quantity, Abnorm... ORPHA:79474
Aicardi-Goutières Syndrome
Multiple joint contractures, Lipoatrophy, Difficulty walking, Irritability, Panniculitis ORPHA:51
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Mandibuloacral Dysplasia Progeroid Syndrome
Sparse hair, Flexion contracture, Sparse eyebrow, Generalized lipodystrophy, Nail dystrophy OMIM:619127
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Congenital Toxoplasmosis
Microphthalmia ORPHA:858
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Subaortic Stenosis-Short Stature Syndrome
Type II diabetes mellitus, Microphthalmia ORPHA:3191
Temtamy Syndrome
Microphthalmia ORPHA:1777
Lissencephaly 8
Microphthalmia OMIM:617255
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Microphthalmia OMIM:214150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Sparse scalp hair, Failure to thrive, Lipoatrophy, Absent ey... OMIM:264090
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Attention deficit hyperactivity disorder, Microphthalmia OMIM:152950
Joubert Syndrome 22
Microphthalmia OMIM:615665
Joubert Syndrome 14
Ataxia, Microphthalmia OMIM:614424
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Sparse scalp hair, Ataxia, Hirsutism, Lipoatrophy, Sparse ha... ORPHA:3455
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Moebius Syndrome
Gait disturbance, Dysdiadochokinesis, Microphthalmia OMIM:157900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Autosomal Dominant Keratitis
Hypoplastic iris stroma, Hypoplasia of the fovea, Bilateral microphthalmos, Macular hypoplasia, A... ORPHA:2334
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:85194
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Rere-Related Neurodevelopmental Syndrome
Attention deficit hyperactivity disorder, Microphthalmia ORPHA:494344
Trisomy 13
Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia ORPHA:3378
Seckel Syndrome 2
Microphthalmia OMIM:606744
Bresek Syndrome
Optic nerve hypoplasia, Microphthalmia ORPHA:85284
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
3P25.3 Microdeletion Syndrome
Ataxia, Attention deficit hyperactivity disorder, Microphthalmia ORPHA:435638
Anterior Segment Dysgenesis 2
Congenital aphakia, Anterior segment of eye aplasia, Aniridia, Microphthalmia OMIM:610256
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Gait disturbance, Difficulty walking, Inability to walk, Microphthalmia OMIM:618571
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Attention deficit hyperactivity disorder, Microphthalmia ORPHA:404440
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Warburg Micro Syndrome 4
Inability to walk, Microphthalmia OMIM:615663
Refsum Disease
Ataxia, Microphthalmia ORPHA:773
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Monosomy 18P
Microphthalmia ORPHA:1598
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ataxia, Hyperactivity, Bilateral microphthalmos ORPHA:369891
Joubert Syndrome 37
Microphthalmia OMIM:619185
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Microphthalmia OMIM:615249
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Microphthalmia With Limb Anomalies
Anophthalmia, Microphthalmia OMIM:206920
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lens coloboma, Microphthalmia OMIM:618914
Pettigrew Syndrome
Choreoathetosis, Self-injurious behavior, Flexion contracture, Gait ataxia OMIM:304340
Hydrolethalus
Anophthalmia, Microphthalmia ORPHA:2189
Baraitser-Winter Syndrome 1
Microphthalmia OMIM:243310
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Solitary Median Maxillary Central Incisor
Anophthalmia, Microphthalmia OMIM:147250
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Rodrigues Blindness
Microphthalmia OMIM:268320
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Microphthalmia ORPHA:370959
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microphthalmia ORPHA:139471
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610125
X-Linked Dominant Chondrodysplasia Punctata
Neonatal hypoglycemia, Microphthalmia ORPHA:35173
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Xeroderma Pigmentosum, Complementation Group D
Ataxia, Choreoathetosis, Microphthalmia OMIM:278730
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Microphthalmia ORPHA:77298
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Microphthalmia OMIM:609053
Otodental Syndrome
Lens coloboma, Microphthalmia ORPHA:2791
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
3Q29 Microdeletion Syndrome
Gait disturbance, Attention deficit hyperactivity disorder, Microphthalmia ORPHA:65286
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia OMIM:616734
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Warburg Micro Syndrome 3
Microphthalmia OMIM:614222
Gracile Bone Dysplasia
Aniridia, Microphthalmia OMIM:602361
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Trichothiodystrophy 3, Photosensitive
Microphthalmia OMIM:616395
Chromosome 13Q33-Q34 Deletion Syndrome
Hyperactivity, Microphthalmia OMIM:619148
Matthew-Wood Syndrome
Anophthalmia, Microphthalmia ORPHA:2470
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Microphthalmia OMIM:120200
Congenital Fibrinogen Deficiency
Microphthalmia ORPHA:335
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Marden-Walker Syndrome
Microphthalmia OMIM:248700
Xeroderma Pigmentosum, Complementation Group B
Ataxia, Microphthalmia OMIM:610651
Walker-Warburg Syndrome
Anophthalmia, Microphthalmia ORPHA:899
Meckel Syndrome, Type 2
Microphthalmia OMIM:603194
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Pmm2-Cdg
Multiple joint contractures, Failure to thrive, Ataxia, Lipodystrophy, Abnormal subcutaneous fat ... ORPHA:79318
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Bilateral microphthalmos OMIM:600122
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Microphthalmia OMIM:600123
Norrie Disease
Buphthalmos, Hypoplasia of the iris, Microphthalmia OMIM:310600
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Meckel Syndrome, Type 4
Microphthalmia OMIM:611134
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Warburg Micro Syndrome 2
Microphthalmia OMIM:614225
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia ORPHA:2728
Ritscher-Schinzel Syndrome 3
Microphthalmia OMIM:619135
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Adams-Oliver Syndrome
Microphthalmia ORPHA:974
Basel-Vanagaite-Smirin-Yosef Syndrome
Difficulty walking, Inability to walk, Microphthalmia ORPHA:464738
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia ORPHA:2505
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia OMIM:613001
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Microphthalmia ORPHA:3301
Martsolf Syndrome 1
Microphthalmia OMIM:212720
Micro Syndrome
Microphthalmia ORPHA:2510
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Macular hypoplasia, Phthisis bulbi, Microphthalmia ORPHA:91495
Joubert Syndrome 2
Ataxia, Microphthalmia OMIM:608091
1Q21.1 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Microphthalmia ORPHA:250989
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Kapur-Toriello Syndrome
Microphthalmia OMIM:244300
Galloway-Mowat Syndrome 1
Ataxia, Hypoplasia of the iris, Microphthalmia OMIM:251300
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Phthisis bulbi, Microphthalmia OMIM:221900
Incontinentia Pigmenti
Gait disturbance, Attention deficit hyperactivity disorder, Microphthalmia ORPHA:464
Hallermann-Streiff Syndrome
Choreoathetosis, Hyperactivity, Microphthalmia OMIM:234100
Dubowitz Syndrome
Hypoplasia of the iris, Hyperactivity, Microphthalmia OMIM:223370
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Holoprosencephaly
Hypoglycemia, Microphthalmia, Anophthalmia, Diabetes mellitus ORPHA:2162
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos, Waddling gait ORPHA:2839
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Frontonasal Dysplasia 2
Microphthalmia OMIM:613451
Monosomy 9Q22.3
Hyperactivity, Microphthalmia ORPHA:77301
Mosaic Trisomy 1
Microphthalmia ORPHA:1692
Subaortic Stenosis--Short Stature Syndrome
Microphthalmia OMIM:271960
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Mosaic Trisomy 9
Microphthalmia ORPHA:99776
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Frontorhiny
Microphthalmia ORPHA:391474
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia OMIM:614230
Histiocytoid Cardiomyopathy
Hypoglycemia, Congenital aphakia, Microphthalmia ORPHA:137675
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Microphthalmia OMIM:615877
Microphthalmia, Lenz Type
Microphthalmia ORPHA:568
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Optic nerve aplasia, Anophthalmia, Microphthalmia OMIM:206900
Pseudotrisomy 13 Syndrome
Microphthalmia OMIM:264480
Cohen Syndrome
Microphthalmia ORPHA:193
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Microphthalmia OMIM:607323
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Fanconi Anemia, Complementation Group L
Attention deficit hyperactivity disorder, Microphthalmia OMIM:614083
Fried Syndrome
Gait disturbance, Aggressive behavior ORPHA:85335
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Microphthalmia OMIM:614643
Oculoauricular Syndrome
Microphakia, Phthisis bulbi, Macular hypoplasia, Microphthalmia OMIM:612109
Oculodentodigital Dysplasia
Ataxia, Microphthalmia OMIM:164200
Osteoporosis-Pseudoglioma Syndrome
Phthisis bulbi, Microphthalmia OMIM:259770
Fryns Syndrome
Microphthalmia ORPHA:2059
Focal Dermal Hypoplasia
Hypoplasia of the iris, Microphthalmia ORPHA:2092
Fanconi Anemia, Complementation Group D2
Attention deficit hyperactivity disorder, Microphthalmia OMIM:227646
Stromme Syndrome
Optic nerve hypoplasia, Microphthalmia OMIM:243605
Cousin Syndrome
Microphthalmia OMIM:260660
Phace Association
Optic nerve hypoplasia, Microphthalmia OMIM:606519
Meckel Syndrome 14
Microphthalmia OMIM:619879
Fanconi Anemia, Complementation Group F
Microphthalmia OMIM:603467
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Papillorenal Syndrome
Microphthalmia OMIM:120330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Optic nerve hypoplasia, Microphthalmia OMIM:236670
Pierson Syndrome
Microphthalmia, Rieger anomaly, Hypoplasia of the iris, Hypoplasia of the ciliary body, Macular h... OMIM:609049
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Cockayne Syndrome
Ataxia, Inability to walk, Microphthalmia, Gait disturbance, Difficulty walking, Progressive gait... ORPHA:191
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia OMIM:253800
Mend Syndrome
Hyperactivity, Microphthalmia ORPHA:401973
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia OMIM:616300
Fanconi Anemia, Complementation Group E
Microphthalmia OMIM:600901
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Microphthalmia ORPHA:2250
2Q31.1 Microdeletion Syndrome
Microphthalmia ORPHA:251014
Vacterl With Hydrocephalus
Anophthalmia, Microphthalmia ORPHA:3412
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Attention deficit hyperactivity disorder, Microphthalmia OMIM:616975
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Trisomy 18
Microphthalmia ORPHA:3380
Fanconi Anemia, Complementation Group A
Microphthalmia OMIM:227650
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Isolated Arrhinia
Microphthalmia ORPHA:1134
Jacobsen Syndrome
Macular hypoplasia, Microphthalmia OMIM:147791
Cockayne Syndrome Type 3
Difficulty walking, Unsteady gait, Microphthalmia ORPHA:90324
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Cockayne Syndrome B
Ataxia, Hypoplasia of the iris, Microphthalmia OMIM:133540
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos OMIM:618874
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia OMIM:308300
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Microphthalmia ORPHA:959
Fanconi Anemia, Complementation Group C
Microphthalmia OMIM:227645
Cat Eye Syndrome
Microphthalmia OMIM:115470
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Pallister-Hall Syndrome
Microphthalmia OMIM:146510
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Microphthalmia ORPHA:508498
Trichothiodystrophy
Gait ataxia, Bilateral microphthalmos ORPHA:33364
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Microphthalmia, Syndromic 9
Anophthalmia, Bilateral microphthalmos OMIM:601186
Mycophenolate Mofetil Embryopathy
Microphthalmia ORPHA:268249
Basal Cell Nevus Syndrome
Microphthalmia OMIM:109400
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Attention deficit hyperactivity disorder, Microphthalmia ORPHA:534
Rothmund-Thomson Syndrome, Type 2
Microphthalmia OMIM:268400
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Microgastria-Limb Reduction Defect Syndrome
Anophthalmia, Microphthalmia ORPHA:2538
22Q11.2 Deletion Syndrome
Attention deficit hyperactivity disorder, Microphthalmia ORPHA:567
Hallermann-Streiff Syndrome
Microphthalmia ORPHA:2108
Myhre Syndrome
Ataxia, Microphthalmia OMIM:139210
Meckel Syndrome
Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia ORPHA:564
Steinfeld Syndrome
Microphthalmia OMIM:184705
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia OMIM:620005
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia ORPHA:1052
Holoprosencephaly 9
Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610829
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Bartsocas-Papas Syndrome 1
Microphthalmia OMIM:263650
Aicardi Syndrome
Microphthalmia ORPHA:50
Treacher-Collins Syndrome
Microphthalmia ORPHA:861
Charge Syndrome
Attention deficit hyperactivity disorder, Anophthalmia, Microphthalmia ORPHA:138
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Microphthalmia ORPHA:2526
Phace Syndrome
Optic nerve hypoplasia, Lens coloboma, Microphthalmia ORPHA:42775
Aicardi Syndrome
Microphthalmia OMIM:304050
Fanconi Anemia
Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:84
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia OMIM:609945
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Norrie Disease
Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Attention deficit hyperactivity disorder,... ORPHA:649
Kenny-Caffey Syndrome, Type 2
Microphthalmia OMIM:127000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hypoplasia of the retina, Buphthalmos, Microphthalmia OMIM:253280
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Microphthalmia ORPHA:2556
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia ORPHA:2166
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia OMIM:309801
Monosomy 9P
Microphthalmia ORPHA:261112
Microphthalmia With Limb Anomalies
True anophthalmia, Microphthalmia ORPHA:1106
Roberts Syndrome
Microphthalmia ORPHA:3103
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic nerve hypoplasia, Bilateral microphthalmos ORPHA:468631
Witteveen-Kolk Syndrome
Hyperactivity, Type II diabetes mellitus, Attention deficit hyperactivity disorder, Microphthalmia OMIM:613406
Degcags Syndrome
Microphthalmia OMIM:619488
Microphthalmia, Syndromic 2
Phthisis bulbi, Anophthalmia, Microphthalmia OMIM:300166
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia ORPHA:3186
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Proboscis Lateralis
Optic nerve hypoplasia, Anophthalmia, Microphthalmia ORPHA:141099
Meckel Syndrome, Type 1
Microphthalmia OMIM:249000
Neuroocular Syndrome
Attention deficit hyperactivity disorder, Hypoplasia of the fovea, Lens coloboma, Microphthalmia OMIM:619539
Holoprosencephaly 1
Hypoglycemia, Microphthalmia OMIM:236100
Fryns Syndrome
Microphthalmia OMIM:229850
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia OMIM:608670
Monosomy 13Q14
Microphthalmia ORPHA:1587
Focal Dermal Hypoplasia
Aniridia, Anophthalmia, Microphthalmia OMIM:305600
Fontaine Progeroid Syndrome
Microphthalmia OMIM:612289
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Yunis-Varon Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:3472
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia ORPHA:306542
Adams-Oliver Syndrome 1
Microphthalmia OMIM:100300
Chromosome 13Q14 Deletion Syndrome
Microphthalmia OMIM:613884
Renpenning Syndrome 1
Microphthalmia OMIM:309500
Holoprosencephaly 7
Bilateral microphthalmos OMIM:610828
Tetraamelia Syndrome 1
Microphthalmia OMIM:273395
Fraser Syndrome
Anophthalmia, Microphthalmia ORPHA:2052
Lowe Oculocerebrorenal Syndrome
Microphthalmia OMIM:309000
Neu-Laxova Syndrome 1
Microphthalmia OMIM:256520
Charge Syndrome
Anophthalmia, Unilateral microphthalmos, Microphthalmia OMIM:214800
Fraser Syndrome 1
Anophthalmia, Bilateral microphthalmos OMIM:219000
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos ORPHA:93325
Hydrolethalus Syndrome 1
Microphthalmia OMIM:236680
Pallister-Hall Syndrome
Microphthalmia ORPHA:672
Microphthalmia, Syndromic 6
Anophthalmia, Microphthalmia OMIM:607932
Branchiooculofacial Syndrome
Anophthalmia, Microphthalmia OMIM:113620
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia OMIM:175780
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Mowat-Wilson Syndrome
Broad-based gait, Ataxia, Inability to walk, Microphthalmia ORPHA:2152
Townes-Brocks Syndrome
Microphthalmia ORPHA:857
Mowat-Wilson Syndrome
Microphthalmia OMIM:235730
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Inability to walk, Microphthalmia ORPHA:261537
Holoprosencephaly 2
Microphthalmia OMIM:157170
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Inability to walk, Microphthalmia ORPHA:261552
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Gait disturbance, Aggressive behavior ORPHA:85329
Roberts-Sc Phocomelia Syndrome
Microphthalmia OMIM:268300
8Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Hyperactivity, Bilateral microphthalmos ORPHA:508488
Craniofacial Microsomia
Anophthalmia, Microphthalmia OMIM:164210
Microphthalmia, Syndromic 1
Anophthalmia, Microphthalmia OMIM:309800
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Inguinal hernia ORPHA:1568

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.

Phenotype Allele Zygosity Sex Life Stage
Eye - MPATH pathological process term developmental dysplasia Ap1s2em1(IMPC)Mbp HEM Early adult
Eye - MPATH pathological process term developmental dysplasia Ap1s2em1(IMPC)Mbp HOM Early adult

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 Ap1s2.

No publications found that use IMPC mice or data for Ap1s2.

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MGI Allele Allele Type Produced
Ap1s2tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Ap1s2tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ap1s2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Ap1s2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Ap1s2em1(IMPC)Mbp Exon Deletion Mice, Tissue