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Gene: Dync1li1 MGI:2135610

Gene Summary

Name:

dynein cytoplasmic 1 light intermediate chain 1

Synonyms:

LIC-1, Dnclic1, Dlic1, 1110053F02Rik

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	Allele	Zyg	Life Stage	P Value
abnormal seminal vesicle morphology	Dync1li1^em1(IMPC)Tcp	HET	Late adult	0.00
abnormal testis morphology	Dync1li1^em1(IMPC)Tcp	HET	Late adult	0.00
small heart	Dync1li1^em1(IMPC)Tcp	HET	Late adult	0.00
enlarged prostate gland	Dync1li1^em1(IMPC)Tcp	HET	Late adult	0.00
enlarged lymph nodes	Dync1li1^em1(IMPC)Tcp	HET	Late adult	0.00
microphthalmia	Dync1li1^em1(IMPC)Tcp	HOM	E15.5	0.00
small kidney	Dync1li1^em1(IMPC)Tcp	HET	Late adult	0.00
abnormal sternum morphology	Dync1li1^em1(IMPC)Tcp	HET	Late adult	0.00
enlarged lymph nodes	Dync1li1^em1(IMPC)Tcp	HET	Early adult	0.00
abnormal lung morphology	Dync1li1^em1(IMPC)Tcp	HET	Early adult	0.00
mydriasis	Dync1li1^em1(IMPC)Tcp	HOM	Early adult	1.06×10^-05
abnormal liver morphology	Dync1li1^em1(IMPC)Tcp	HET	Late adult	0.00
abnormal seminal vesicle morphology	Dync1li1^em1(IMPC)Tcp	HOM	Early adult	0.00
cataract	Dync1li1^em1(IMPC)Tcp	HET	Late adult	5.74×10^-06
increased red blood cell distribution width	Dync1li1^em1(IMPC)Tcp	HET	Early adult	3.80×10^-05
abnormal skin morphology	Dync1li1^em1(IMPC)Tcp	HET	Late adult	0.00
preweaning lethality, incomplete penetrance	Dync1li1^em1(IMPC)Tcp	HOM	Early adult	0.00

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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 Lateral Orientation

12 Images

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Histopathology

Images

10 Images

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Eye Morphology

Images Ophthalmoscopy

58 Images

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Gross Pathology and Tissue Collection

Images

15 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

13 Images

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Eye Morphology

Images Slit Lamp

3 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Eye Morphology

Images Slit Lamp

25 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

12 Images

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Histopathology

Images

3 Images

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Eye Morphology

Images Ophthalmoscopy

3 Images

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Immunophenotyping

Panel A FCS file(s)

2 Images

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Immunophenotyping

Panel B FCS file(s)

2 Images

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Human diseases caused by Dync1li1 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.

Human diseases associated with Dync1li1 (0 diseases)
Human diseases predicted to be associated with Dync1li1 (696 diseases)

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

The table below shows human diseases predicted to be associated to Dync1li1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis	OMIM:603529
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Exfoliation Syndrome	Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ...	OMIM:177650
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho...	ORPHA:766
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Short thumb, Cataract, Cryptorchidism	OMIM:274205
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he...	ORPHA:3203
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Anemia of inadequat...	OMIM:615631
Pupillary Membrane, Persistence Of	Megalocornea, Persistent pupillary membrane, Developmental cataract	OMIM:178900
Iron-Refractory Iron Deficiency Anemia	Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis	OMIM:206200
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Reticuloendotheliosis, X-Linked	Lymphadenopathy, Anemia, Hepatosplenomegaly	OMIM:312500
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro...	ORPHA:67044
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Nodular Neuronal Heterotopia	Abnormality of neuronal migration, EEG abnormality	ORPHA:2149
Immunodeficiency 75 With Lymphoproliferation	Bronchiectasis, Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia, Decreased proportion...	OMIM:619126
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A...	ORPHA:86841
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Gray matter heterotopia, Hypsarrhythmia, Agyria, EEG with changes in voltage, Pachygyria	ORPHA:1084
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Elliptocytosis, Poikilocytosis, Anisocytosis, Bone marrow hypocellularity, Macrocytic anemia, Thr...	OMIM:300835
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria	OMIM:615411
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Sub-Cortical Nodular Heterotopia	Subcortical heterotopia, EEG with focal slow activity, Abnormality of neuronal migration, EEG wit...	ORPHA:101029
Hemoglobin D Disease	Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he...	ORPHA:90039
Gombo Syndrome	Microphthalmia	OMIM:233270
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi...	OMIM:616860
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Anterior Segment Dysgenesis 8	Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro...	OMIM:617319
Lissencephaly 1	Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria	OMIM:607432
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hypertrophic cardiomyopathy, Cataract, Hepatomegaly	ORPHA:79281
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Uveal Melanoma	Iris melanoma, Zonular cataract, Mydriasis, Ciliary body melanoma, Inferior lens subluxation	ORPHA:39044
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Bilateral microphthalmos, Anophthalmia	OMIM:611638
Symmetrical Thalamic Calcifications	Cognitive impairment, Abnormality of neuronal migration, Ataxia, EEG abnormality	ORPHA:1314
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Gray matter heterotopia, Aggressive behavior, Abnormality of neuronal migration, EEG abnormality,...	OMIM:604317
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Hypsarrhythmia, Periventricular heterotopia, Periventricular nodular heterotopia	OMIM:608097
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythropoietic anemia, Po...	OMIM:224120
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy...	OMIM:613673
Nanophthalmos 4	Microphthalmia	OMIM:615972
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Lissencephaly 3	Gray matter heterotopia, Agyria, Lissencephaly, Ataxia, Pachygyria, Periventricular laminar heter...	OMIM:611603
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Lissencephaly, X-Linked, 1	Gray matter heterotopia, Agyria, Ataxia, Lissencephaly, Pachygyria	OMIM:300067
Anterior Segment Dysgenesis 3	Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,...	OMIM:601631
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Respiratory tract infection, Hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Autoimmu...	ORPHA:444463
Nanophthalmos	Microphthalmia	ORPHA:35612
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Inappropriate behavior, Frontotemporal dementia, Motor neuron atrophy, Inertia, Falls, Shuffling ...	ORPHA:412066
Microlissencephaly	Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa...	ORPHA:1083
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he...	OMIM:603902
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia	ORPHA:231242
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Hemimegalencephaly	Gray matter heterotopia, EEG with polyspike wave complexes, EEG with burst suppression, EEG with ...	ORPHA:99802
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Heinz bodies, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Anisocytosis, ...	OMIM:300908
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Genu valgum, Hypoplasia of penis, Cataract, Hypospadias, Cryptorchidism, Tetralogy of Fallot, Apl...	ORPHA:1381
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
1Q21.1 Microduplication Syndrome	Hip dysplasia, Hip dislocation, Cataract, Hypospadias, Cryptorchidism, Tetralogy of Fallot	ORPHA:250994
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Cataract, Splenomegaly	OMIM:619813
Maternal Hyperthermia-Induced Birth Defects	Cognitive impairment, Abnormality of neuronal migration, EEG abnormality	ORPHA:2216
Intestinal Botulism	Mydriasis	ORPHA:178481
Periventricular Nodular Heterotopia 6	Hypsarrhythmia, Periventricular nodular heterotopia	OMIM:615544
Toxin-Mediated Infectious Botulism	Mydriasis	ORPHA:230800
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Mydriasis	OMIM:619365
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormality of neuronal migration, Ataxia	OMIM:618709
Ectopia Lentis Et Pupillae	Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Peroxisome Biogenesis Disorder 8A (Zellweger)	Ventricular septal defect, Jaundice, Epiphyseal stippling, Elevated circulating aspartate aminotr...	OMIM:614876
Rh Deficiency Syndrome	Stomatocytosis, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Anisocytosis, Macrocytic a...	ORPHA:71275
Iridocorneal Endothelial Syndrome	Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante...	ORPHA:64734
Iatrogenic Botulism	Mydriasis	ORPHA:254509
Wound Botulism	Mydriasis	ORPHA:178475
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Short thumb, Cataract, Short metacarpal, Cryptorchidism	ORPHA:2489
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Mydriasis	ORPHA:247815
Microcoria, Congenital	Microcoria, Hypoplasia of the iris dilator muscle, Miosis	OMIM:156600
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Congenital Dyserythropoietic Anemia Type Iii	Anemia, Poikilocytosis, Abnormal erythrocyte morphology, Anisocytosis, Increased mean corpuscular...	ORPHA:98870
Inhalational Botulism	Mydriasis	ORPHA:254504
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	T lymphocytopenia, Increased proportion of transitional B cells, Bronchiectasis, Recurrent sinopu...	OMIM:615513
Laurence-Moon Syndrome	Finger syndactyly, Hand polydactyly, Hypoplasia of penis, Iris coloboma, Cataract, Cryptorchidism...	ORPHA:2377
Corneal Dystrophy, Posterior Amorphous	Iris coloboma, Corneal dystrophy, Ectopia pupillae	OMIM:612868
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Bronchiectasis, Recurrent lower respiratory tract infections, Neutropenia in presence of anti-neu...	OMIM:619220
Orotic Aciduria	Pyrimidine-responsive megaloblastic anemia, Poikilocytosis, Anisocytosis, Folate-unresponsive meg...	OMIM:258900
Galactosemia Ii	Cataract, Prolonged neonatal jaundice, Galactosuria	OMIM:230200
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Abnormal pulmonary interstitial morphology, Recurrent sinusitis, Hepatosplenomegaly, Lymp...	OMIM:613101
Pituitary Apoplexy	Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t...	ORPHA:95613
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Botulism	Mydriasis	ORPHA:1267
Cntnap2-Related Developmental And Epileptic Encephalopathy	Aggressive behavior, Abnormality of neuronal migration, EEG with generalized epileptiform dischar...	ORPHA:163681
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Recurrent sinopulmonary infections, Lymphop...	OMIM:619846
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Corneal Dystrophy, Groenouw Type I	Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy	OMIM:121900
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Foodborne Botulism	Mydriasis	ORPHA:228371
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ambiguous genitalia, Ventricular septal defect, Hypoplasia of penis, Hypoplastic left heart, Cata...	ORPHA:2772
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Ventricular septal defect, Cystic renal dysplasia, Ectopic kidney, Cataract, Hepatomegaly, Crypto...	OMIM:613730
Myopia 27, Autosomal Dominant	Increased axial length of the globe	OMIM:618827
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Decreased testicular size, Cataract, Abnormality of the ovary, Hypogonadism	ORPHA:1875
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Elliptocytosis, Poikilocytosis, Decreased mean corpuscular volume, Anisocytosis	OMIM:616959
Immunodeficiency With Hyper-Igm, Type 4	Bronchiectasis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Recurrent upper respira...	OMIM:608184
Infant Botulism	Keratoconjunctivitis sicca, Mydriasis	ORPHA:178478
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract, Hypogonadism	OMIM:254000
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Corneal Dystrophy, Posterior Polymorphous, 1	Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog...	OMIM:122000
Microphthalmia, Isolated 8	Microphthalmia, True anophthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:615113
Chudley-Mccullough Syndrome	Gray matter heterotopia, Polymicrogyria	OMIM:604213
Multisystemic Smooth Muscle Dysfunction Syndrome	Mydriasis, Cryptorchidism	OMIM:613834
Megalocornea	Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri...	OMIM:309300
Galactose Epimerase Deficiency	Aminoaciduria, Jaundice, Cataract, Hepatomegaly, Splenomegaly	ORPHA:79238
Mmep Syndrome	Microphthalmia	ORPHA:3434
Kimura Disease	Lymphadenopathy, Follicular hyperplasia, Eosinophilia	ORPHA:482
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Elliptocytosis, Reticulocytosis, Hepatosplenomegaly, Poikilocytosis, Anisocytos...	OMIM:618278
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell receptor excis...	OMIM:602450
Woolly Hair Nevus	Precocious puberty, Heterochromia iridis, Persistent pupillary membrane	ORPHA:79414
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Periventricular heterotopia, Inability to walk, Simplified gyral pattern, Truncal ataxia, Unstead...	OMIM:618273
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Serotonin Syndrome	Mydriasis	ORPHA:43116
Dominant Beta-Thalassemia	Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular hemoglobin concentration, Hepatos...	ORPHA:231226
Congenital Muscular Dystrophy Without Intellectual Disability	Gray matter heterotopia, Tip-toe gait, Difficulty walking, Pachygyria	ORPHA:370980
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration	ORPHA:1980
Cataract-Microcornea Syndrome	Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy	ORPHA:1377
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Osteopetrosis, Autosomal Recessive 5	Stillbirth, Mydriasis	OMIM:259720
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Hereditary Bullous Dystrophy, Macular Type	Tapered finger, External genital hypoplasia, Decreased testicular size, Short finger, Cataract, A...	ORPHA:1867
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Combined Oxidative Phosphorylation Deficiency 47	Cone-shaped epiphyses of the distal phalanges of the hand, Toe syndactyly, Elevated hepatic trans...	OMIM:618958
Polymicrogyria Due To Tubb2B Mutation	Gray matter heterotopia, Perisylvian polymicrogyria, Cognitive impairment, Lissencephaly, Pachygy...	ORPHA:300573
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Subependymal Nodular Heterotopia	Gray matter heterotopia, Abnormality of neuronal migration, Interictal EEG abnormality, EEG with ...	ORPHA:101030
Posterior Polymorphous Corneal Dystrophy	Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal...	ORPHA:98973
Wagr Syndrome	Ambiguous genitalia, Aplasia/Hypoplasia of the iris, Cataract, Cryptorchidism, Displacement of th...	ORPHA:893
Hec Syndrome	Abnormal pupil morphology, Vaginal hydrocele, Developmental cataract	ORPHA:2119
Martsolf Syndrome 2	Camptodactyly of finger, Camptodactyly, Developmental cataract, Overlapping toe, Cataract, Hypogo...	OMIM:619420
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Cataract 9, Multiple Types	Developmental cataract, Microcornea, Cataract, Iris coloboma, Progressive cataract	OMIM:604219
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology	ORPHA:101082
Senior-Loken Syndrome	Stage 5 chronic kidney disease, Cataract, Nephronophthisis, Congenital hepatic fibrosis, Cone-sha...	ORPHA:3156
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia	OMIM:619101
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Arachnoid Cyst	Mydriasis	ORPHA:2356
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ambiguous genitalia, Ventricular septal defect, Cataract, Proximal placement of thumb, Abnormal r...	ORPHA:93267
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Anisocytosis	OMIM:604273
Glutathionuria	Gray matter heterotopia, Constipation, Dysdiadochokinesis	OMIM:231950
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Broad long bone diaphyses, Stage 5 chronic kidney disease, Short iliac bones, Supernumerary nippl...	OMIM:614376
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Gray matter heterotopia, Type II lissencephaly, Dysgyria	ORPHA:352682
Purine Nucleoside Phosphorylase Deficiency	Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Lymphopenia, Autoimm...	OMIM:613179
Facial Spasm	Anisocoria	OMIM:134300
Intellectual Developmental Disorder, X-Linked 12	Gait disturbance, Abnormality of neuronal migration, Depression, Anxiety	OMIM:300957
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the pancreas, Abnormality of the liver, Abnormalit...	ORPHA:543
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
X-Linked Recessive Ocular Albinism	Abnormal pupil morphology, Iris hypopigmentation, Astigmatism, Ocular albinism	ORPHA:54
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	External genital hypoplasia, Cataract, Hypogonadism, Cryptorchidism	ORPHA:363741
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Aniridia-Absent Patella Syndrome	Cataract, Aplasia/Hypoplasia of the patella, Aniridia, Cryptorchidism	ORPHA:1069
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Alternating Hemiplegia Of Childhood	Mydriasis	ORPHA:2131
Hypogonadism-Cataract Syndrome	Male hypogonadism, Cataract, Elevated circulating follicle stimulating hormone level, Hypogonadism	OMIM:240950
Woolly Hair	Abnormal pupil morphology, Cataract	ORPHA:170
Isolated Optic Nerve Hypoplasia/Aplasia	Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microphthalmos, Optic nerve hyp...	ORPHA:137902
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Short phalanx of finger, Decreased response to growth hormone stimulation test, Small hand, Decre...	OMIM:300845
Triploidy	Ambiguous genitalia, Abnormality of the pancreas, Finger syndactyly, Abnormal cardiac septum morp...	ORPHA:3376
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Flattened femoral head, Hip dysplasia, Abnormal hip joint morphology, Irregular epiphyses, Hypopl...	ORPHA:1856
Peroxisome Biogenesis Disorder 2A (Zellweger)	Brushfield spots, Aminoaciduria, Hypoplasia of the thymus, Jaundice, Polycystic kidney dysplasia,...	OMIM:214110
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology	OMIM:160565
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Tetrasomy 18P	Achalasia, Gait disturbance, Abnormality of neuronal migration	ORPHA:3307
Band Heterotopia	Gray matter heterotopia, Subcortical band heterotopia, Polymicrogyria	OMIM:600348
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormal lymph node morphology, Anemia, Neutrophilia, Abnormal lung morphology, Abnormality of th...	ORPHA:54251
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration	OMIM:236795
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Bickerstaff Brainstem Encephalitis	Anisocoria, Mydriasis	ORPHA:79138
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Buphthalmos, Iris ...	OMIM:221900
Weill-Marchesani Syndrome	Ventricular septal defect, Ectopia lentis, Cataract, Brachydactyly, Aortic valve stenosis, Short ...	ORPHA:3449
Galactosemia I	Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Galactosur...	OMIM:230400
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Borjeson-Forssman-Lehmann Syndrome	Short toe, Tapered finger, Hypogonadism, Decreased testicular size, Camptodactyly of toe, Hypopla...	ORPHA:127
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia, Cognitive impairment, Dysphagia	OMIM:617008
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cataract, Hypogonadism, Cryptorchidism	OMIM:601794
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Mydriasis	OMIM:619351
Cocaine Intoxication	Mydriasis	ORPHA:90068
Lissencephaly 6 With Microcephaly	Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Microlissencephaly, Pachygy...	OMIM:616212
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
Cofs Syndrome	Microphthalmia	ORPHA:1466
Lissencephaly 5	Gray matter heterotopia, Type II lissencephaly, Subcortical band heterotopia	OMIM:615191
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Scorpion Envenomation	Miosis, Mydriasis	ORPHA:466677
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Decreased...	ORPHA:276
Cerebrooculofacioskeletal Syndrome 2	Camptodactyly of finger, Developmental cataract, Cataract, Small scrotum, Micropenis, Rocker bott...	OMIM:610756
Short Stature-Micrognathia Syndrome	2-3 toe syndactyly, Broad femoral neck, Coxa valga, Ventricular septal defect, Bowing of the legs...	OMIM:617164
Leukocyte Adhesion Deficiency, Type Iii	Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopo...	OMIM:612840
Lymphedema-Hypoparathyroidism Syndrome	Pulmonary lymphangiectasia, Mitral valve prolapse, Cataract, Nephropathy, Hypoparathyroidism, Bra...	OMIM:247410
Alexander Disease	Microcoria	OMIM:203450
Isolated Ectopia Lentis	Cataract, Ectopia lentis, Ectopia pupillae	ORPHA:1885
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Microcornea, Postaxial foot polydactyly, Iris coloboma, Cataract, Proximal pla...	ORPHA:139471
Periventricular Nodular Heterotopia 7	Gray matter heterotopia, Hypsarrhythmia, Periventricular nodular heterotopia, Ataxia, Polymicrogyria	OMIM:617201
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia	OMIM:164180
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Cat-Eye Syndrome	Microphthalmia	ORPHA:195
Anterior Segment Dysgenesis 5	Hypoplasia of the iris, Hypoplasia of the fovea, Rieger anomaly, Microphthalmia	OMIM:604229
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Ventricular septal defect, Bifid scrotum, Toe syndactyly, Clinodactyly of the ...	ORPHA:217346
Brain Small Vessel Disease 2	Subcortical heterotopia, Polymicrogyria	OMIM:614483
Lissencephaly Syndrome, Norman-Roberts Type	4-layered lissencephaly, Dysphagia, Abnormality of neuronal migration, Microlissencephaly	ORPHA:89844
Craniotubular Dysplasia, Ikegawa Type	Mydriasis	OMIM:619727
Axenfeld-Rieger Syndrome, Type 1	Megalocornea, Rieger anomaly, Posterior embryotoxon, Decreased response to growth hormone stimula...	OMIM:180500
Norrie Disease	Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior chamber, Cataract, Corneal opac...	OMIM:310600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Abnormality of neuronal migration, Pachygyria	OMIM:608840
Proteus-Like Syndrome	Abnormal pupil morphology, Limbal dermoid, Cataract, Heterochromia iridis, Polycystic ovaries, Ab...	ORPHA:2969
Harrod Syndrome	Arachnodactyly, Multicystic kidney dysplasia, Abnormal pelvic girdle bone morphology, Cataract, H...	ORPHA:2115
Short Syndrome	Abnormal pupil morphology, Megalocornea, Posterior embryotoxon, Hypoplasia of the iris, Corneal o...	ORPHA:3163
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Dysplastic Cortical Hyperostosis	Abnormality of neuronal migration	ORPHA:2204
Phacoanaphylactic Uveitis	Corneal keratic precipitates, Abnormal pupil morphology, Posterior synechiae of the anterior cham...	ORPHA:209959
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology	ORPHA:2151
Coats Disease	Leukocoria	OMIM:300216
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Warburg Micro Syndrome 2	Clinodactyly of the 4th toe, Clinodactyly of the 5th toe, Hypoplastic labia majora, Developmental...	OMIM:614225
Meckel Syndrome	Asplenia, Ambiguous genitalia, Aplasia/Hypoplasia of the iris, Postaxial hand polydactyly, Congen...	ORPHA:564
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Missing ribs, Microcornea, Aplasia/Hypoplasia involving the pelvis,...	ORPHA:3301
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Mietens Syndrome	Coxa valga, Avascular necrosis of the capital femoral epiphysis, Coxa vara, Hypoplasia of the rad...	ORPHA:2557
Cataract 47	Glycosuria, Cataract, Microcornea	OMIM:612018
Pierpont Syndrome	Microphthalmia	OMIM:602342
Kapur-Toriello Syndrome	Camptodactyly of finger, Ventricular septal defect, Clinodactyly of the 5th toe, Hypoplastic labi...	OMIM:244300
Aniridia 1	Corneal erosion, Hypoplasia of the iris, Corneal neovascularization, Anterior subcapsular catarac...	OMIM:106210
Neonatal Adrenoleukodystrophy	Abnormality of neuronal migration, EEG abnormality	ORPHA:44
Autosomal Recessive Primary Microcephaly	Gray matter heterotopia, Pachygyria	ORPHA:2512
Meckel Syndrome, Type 8	Microphthalmia, Anophthalmia	OMIM:613885
Warburg Micro Syndrome 1	Microphthalmia	OMIM:600118
Triopia	Abnormal pupil morphology, Iris coloboma, Microcornea	ORPHA:3374
Periventricular Nodular Heterotopia 1	Gray matter heterotopia, Abnormality of neuronal migration	OMIM:300049
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia	ORPHA:48431
Autosomal Dominant Keratitis	Macular hypoplasia, Hypoplastic iris stroma, Hypoplasia of the fovea, Bilateral microphthalmos, A...	ORPHA:2334
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Acalvaria	Abnormality of neuronal migration	ORPHA:945
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Congenital Erythropoietic Porphyria	Leukopenia, Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosi...	ORPHA:79277
Congenital Toxoplasmosis	Microphthalmia	ORPHA:858
Agammaglobulinemia, X-Linked	Anemia, T lymphocytopenia, B lymphocytopenia, Bronchiectasis, Recurrent sinusitis, Bronchiolitis ...	OMIM:300755
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Axenfeld-Rieger Syndrome, Type 3	Posterior synechiae of the anterior chamber, Hypoplasia of the iris, Posterior embryotoxon, Ectop...	OMIM:602482
Fragile X Syndrome	Periventricular heterotopia, Self-biting	OMIM:300624
Familial Infantile Myoclonic Epilepsy	Interictal EEG abnormality, Gait disturbance, Periventricular nodular heterotopia, Ataxia, EEG wi...	ORPHA:352582
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph...	OMIM:269400
Bent Bone Dysplasia Syndrome 2	Short tibia, Hypoplastic iliac wing, Short sternum, Hypoplastic acetabulae, Short 1st metacarpal,...	OMIM:620076
Anterior Segment Dysgenesis 2	Anterior segment of eye aplasia, Microphthalmia, Aniridia, Congenital aphakia	OMIM:610256
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Myhre Syndrome	Precocious puberty, Abnormal cardiac septum morphology, Large iliac wing, External genital hypopl...	ORPHA:2588
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Meige Disease	Pleural effusion, Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Lissencephaly 8	Microphthalmia	OMIM:617255
Leber Congenital Amaurosis	Abnormality of neuronal migration	ORPHA:65
Radio-Tartaglia Syndrome	Gastroesophageal reflux, Gray matter heterotopia, Aggressive behavior, Gait imbalance, Ataxia, Co...	OMIM:619312
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Dahlberg-Borer-Newcomer Syndrome	Mitral valve prolapse, Cataract, Nephropathy, Hypoparathyroidism, Brachydactyly, Short distal pha...	ORPHA:1563
Bardet-Biedl Syndrome 1	Hepatic fibrosis, Hypogonadism, Foot polydactyly, Decreased testicular size, Abnormality of the o...	OMIM:209900
Thrombocytopenia-Absent Radius Syndrome	Short phalanx of finger, Atrioventricular canal defect, Absent thumb, Coxa valga, Hip dislocation...	OMIM:274000
Galloway-Mowat Syndrome	Cognitive impairment, Abnormality of neuronal migration, Pachygyria, EEG abnormality	ORPHA:2065
Codas Syndrome	Short phalanx of finger, Atrioventricular canal defect, Genu valgum, Absent epiphyses, Short meta...	OMIM:600373
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Gastroesophageal reflux, Aggressive behavior, Periventricular heterotopia, Self-injurious behavio...	OMIM:619833
Thanatophoric Dysplasia Type 2	Cognitive impairment, Abnormality of neuronal migration	ORPHA:93274
Alagille Syndrome	Abnormal pupil morphology, Corneal dystrophy, Keratoconus, Cryptorchidism	ORPHA:52
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Plague	Mydriasis, Conjunctival hyperemia	ORPHA:707
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia	ORPHA:290
Persistent Hyperplastic Primary Vitreous	Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow anterior chamber, Cataract,...	ORPHA:91495
Otopalatodigital Syndrome Type 2	Camptodactyly of finger, Developmental glaucoma, Abnormal cardiac septum morphology, Flared iliac...	ORPHA:90652
Hypomelanosis Of Ito	Gray matter heterotopia	OMIM:300337
Alagille Syndrome 1	Hepatocellular carcinoma, Elevated hepatic transaminase, Band keratopathy, Abnormal rib morpholog...	OMIM:118450
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Cataract	OMIM:619649
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Microcornea, Cataract, Hypospadias, Ectopia pupillae, Sclerocornea	OMIM:615877
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Walker-Warburg Syndrome	Abnormality of neuronal migration, Abnormal cortical gyration, Macrogyria, Lissencephaly, Pachygy...	ORPHA:899
Alg11-Cdg	EEG with burst suppression, Episodic vomiting, Gray matter heterotopia, Ataxia	ORPHA:280071
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Microphthalmia, Syndromic 5	Microcornea, Ectopic posterior pituitary, Cataract, Cryptorchidism, Micropenis	OMIM:610125
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Cognitive impairment, Periventricular heterotopia, Ataxia, Inappropriate laughter, Difficulty wal...	OMIM:618476
Aniridia 2	Lens subluxation, Cataract, Iris coloboma, Aniridia	OMIM:617141
Meckel Syndrome, Type 5	Microphthalmia	OMIM:611561
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	11 pairs of ribs, Patent foramen ovale, Hepatic fibrosis, Tapered finger, Small hand, Hip dysplas...	OMIM:620005
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Trisomy 9P	Abnormal pupil morphology	ORPHA:236
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede...	ORPHA:67043
Frontonasal Dysplasia 1	Microphthalmia	OMIM:136760
Joubert Syndrome	Gait disturbance, Abnormality of neuronal migration, Ataxia, Polymicrogyria	ORPHA:475
Spondylo-Ocular Syndrome	Aplasia/Hypoplasia of the lens, Microphthalmia	ORPHA:85194
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Townes-Brocks Syndrome	Abnormal cardiac septum morphology, Toe syndactyly, Iris coloboma, Absent toe, Abnormal rib morph...	ORPHA:857
16P13.11 Microdeletion Syndrome	Gastroesophageal reflux, Abnormality of neuronal migration, Self-injurious behavior, EEG abnormality	ORPHA:261236
Bresek Syndrome	Microphthalmia, Optic nerve hypoplasia	ORPHA:85284
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia	OMIM:214150
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Edinburgh Malformation Syndrome	Abnormality of neuronal migration	ORPHA:1895
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Neurocutaneous Melanocytosis	Abnormality of neuronal migration, EEG abnormality	ORPHA:2481
Schinzel-Giedion Midface Retraction Syndrome	Hypoplastic labia majora, Hepatoblastoma, Thickened cortex of long bones, Postaxial hand polydact...	OMIM:269150
Duane Retraction Syndrome	Abnormal pupil morphology, Central heterochromia, Microcornea, Hypoplastic iris stroma, Iris colo...	ORPHA:233
Charcot-Marie-Tooth Disease Type 1E	Slow pupillary light response, Tonic pupil, Anisocoria, Abnormal pupil morphology	ORPHA:90658
Rodrigues Blindness	Microphthalmia	OMIM:268320
Distal Monosomy 6P	Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Cornea...	ORPHA:96125
Microphthalmia, Syndromic 3	Anterior pituitary hypoplasia, Ventricular septal defect, Supernumerary ribs, Missing ribs, Catar...	OMIM:206900
Chiari Malformation Type Ii	Gray matter heterotopia, Ataxia, Dysphagia	OMIM:207950
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia	ORPHA:3191
Trisomy 13	Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia	ORPHA:3378
Orofaciodigital Syndrome Xvi	Ataxia, Gray matter heterotopia, Inability to walk	OMIM:617563
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Cognitive impairment, Abnormality of neuronal migration	ORPHA:2063
Aniridia And Absent Patella	Cataract, Aplasia/Hypoplasia of the patella, Aniridia	OMIM:106220
Acro-Renal-Ocular Syndrome	Toe syndactyly, Short distal phalanx of the thumb, Iris coloboma, Short hallux, Vesicoureteral re...	ORPHA:959
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Bilateral Perisylvian Polymicrogyria	EEG with central focal spikes, Gastroesophageal reflux, Abnormality of neuronal migration, Perisy...	ORPHA:98889
Aniridia-Intellectual Disability Syndrome	Cataract, Aniridia, Ectopia lentis	ORPHA:1068
Neurooculocardiogenitourinary Syndrome	Microphthalmia	OMIM:618652
Desmosterolosis	Abnormality of neuronal migration, Abnormal cortical gyration, Macrogyria, Lissencephaly, Pachygy...	ORPHA:35107
Poretti-Boltshauser Syndrome	Gray matter heterotopia	OMIM:615960
Spondyloocular Syndrome	Dysplastic aortic valve, Mitral valve prolapse, Atrial septal defect, Posterior subcapsular catar...	OMIM:605822
Pyruvate Dehydrogenase E1-Beta Deficiency	Ataxia, Periventricular heterotopia, Pachygyria	ORPHA:255138
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Gray matter heterotopia, Subcortical heterotopia, Agyria, Lissencephaly, Type II lissencephaly, P...	OMIM:614643
Linear Skin Defects With Multiple Congenital Anomalies 1	Histiocytoid cardiomyopathy, Ventricular septal defect, Clitoral hypertrophy, Atrial septal defec...	OMIM:309801
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Microphthalmia	OMIM:615249
Joubert Syndrome 30	Gray matter heterotopia	OMIM:617622
Li-Ghorbani-Weisz-Hubshman Syndrome	Periventricular heterotopia	OMIM:618974
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Familial Dysautonomia	Abnormal pupil morphology, Corneal opacity, Heterochromia iridis, Corneal erosion	ORPHA:1764
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Coffin-Lowry Syndrome	Abnormality of neuronal migration, Gait disturbance, Self-injurious behavior	ORPHA:192
Joubert Syndrome 37	Microphthalmia	OMIM:619185
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Microphthalmia	OMIM:120200
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormality of neuronal migration, Abnormal cortical gyration, Macrogyria, Lissencephaly, Pachygy...	ORPHA:2211
Periventricular Nodular Heterotopia	Gastroesophageal reflux, Periventricular heterotopia	ORPHA:98892
Man1B1-Cdg	Periventricular heterotopia, Broad-based gait	ORPHA:397941
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Hydrolethalus	Microphthalmia, Anophthalmia	ORPHA:2189
Monosomy 18P	Microphthalmia	ORPHA:1598
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Simplified gyral pattern, Gray matter heterotopia, Lissencephaly	OMIM:615219
Pelvis-Shoulder Dysplasia	Microphthalmia	OMIM:169550
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma	OMIM:618914
Temtamy Syndrome	Microphthalmia	OMIM:218340
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia	ORPHA:77298
Congenital Muscular Dystrophy With Cerebellar Involvement	Gray matter heterotopia, Type II lissencephaly, Polymicrogyria	ORPHA:370959
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Asplenia, Cirrhosis, Keratoconjunctivitis, Hepatitis, Cataract, Band keratopathy, Chroni...	OMIM:269200
9Q21.13 Microdeletion Syndrome	Gray matter heterotopia, Difficulty walking	ORPHA:531151
Cutis Marmorata Telangiectatica Congenita	Leukocoria	OMIM:219250
Thanatophoric Dysplasia	Gray matter heterotopia	ORPHA:2655
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Periventricular heterotopia, Self-injurious behavior, Anxiety	OMIM:618929
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Oculodentodigital Dysplasia, Autosomal Recessive	Cataract, Persistent pupillary membrane, Microcornea	OMIM:257850
Sandestig-Stefanova Syndrome	Microphthalmia	OMIM:618804
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia	OMIM:618494
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Baraitser-Winter Syndrome 1	Microphthalmia	OMIM:243310
Moebius Syndrome	Microphthalmia	OMIM:157900
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Vici Syndrome	Gray matter heterotopia, EEG abnormality	ORPHA:1493
Gracile Bone Dysplasia	Microphthalmia, Aniridia	OMIM:602361
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Neu-Laxova Syndrome	Abnormality of neuronal migration, Abnormal cortical gyration, Macrogyria, Lissencephaly, Pachygy...	ORPHA:2671
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Astigmatism, Cataract, Ectopia pupillae	OMIM:618727
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia	ORPHA:228390
Rere-Related Neurodevelopmental Syndrome	Microphthalmia	ORPHA:494344
Meckel Syndrome, Type 2	Microphthalmia	OMIM:603194
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria	ORPHA:289483
Joubert Syndrome With Oculorenal Defect	Abnormality of neuronal migration, Ataxia	ORPHA:2318
6Q Terminal Deletion Syndrome	Gait ataxia, Gray matter heterotopia, Periventricular heterotopia, Abnormality of neuronal migrat...	ORPHA:75857
3C Syndrome	Gastroesophageal reflux, Abnormality of neuronal migration	ORPHA:7
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Fanconi Anemia, Complementation Group I	Microphthalmia, Optic nerve hypoplasia	OMIM:609053
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia	OMIM:617914
Periventricular Nodular Heterotopia 9	Gray matter heterotopia, Interictal epileptiform activity, Periventricular nodular heterotopia, B...	OMIM:618918
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Vomiting, Abnormality of neuronal migration, Diarrhea, Polymicrogyria	OMIM:608836
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum	OMIM:140850
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Cataract, Peters anomaly, Persistent pupillary membrane	OMIM:613150
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Multiple Acyl-Coa Dehydrogenase Deficiency	Gray matter heterotopia, Vomiting, Inability to walk, Dysphagia	ORPHA:26791
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Congenital Fibrinogen Deficiency	Microphthalmia	ORPHA:335
Frontofacionasal Dysplasia	Microphthalmia	ORPHA:1791
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Trichothiodystrophy 3, Photosensitive	Microphthalmia	OMIM:616395
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of neuronal migration	ORPHA:2518
Ulbright-Hodes Syndrome	Short sternum, Abnormal external genitalia, Humeroradial synostosis, Short ribs, Short metacarpal...	ORPHA:3404
Neuromuscular Oculoauditory Syndrome	Unsteady gait, Decreased nerve conduction velocity, Decreased amplitude of sensory action potenti...	OMIM:618733
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Van Maldergem Syndrome 1	Gray matter heterotopia, Simplified gyral pattern, Periventricular nodular heterotopia, Subcortic...	OMIM:601390
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hydronephrosis, Ambiguous genitalia, Preaxial hand polydactyly, Short foot, Short ribs, Urethrova...	ORPHA:93271
Refsum Disease	Microphthalmia	ORPHA:773
Warburg Micro Syndrome 4	Microphthalmia	OMIM:615663
Cerebrofacioarticular Syndrome	Gray matter heterotopia, Self-injurious behavior, Ataxia	ORPHA:314679
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Gastroesophageal reflux, Vomiting, Abnormality of neuronal migration, Gait disturbance, Anxiety	ORPHA:464311
Tetraamelia Syndrome 1	Asplenia, Urethral atresia, Adrenal gland agenesis, Absent external genitalia, Vaginal atresia, C...	OMIM:273395
Meckel Syndrome, Type 4	Microphthalmia	OMIM:611134
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Otopalatodigital Syndrome, Type Ii	Toe syndactyly, Broad hallux, Short hallux, Postaxial hand polydactyly, Rocker bottom foot, Bulbo...	OMIM:304120
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Pierson Syndrome	Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Uveal ectropi...	OMIM:609049
Warburg Micro Syndrome 3	Microphthalmia	OMIM:614222
Joubert Syndrome With Hepatic Defect	Gait disturbance, Abnormality of neuronal migration, Ataxia	ORPHA:1454
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Nephronophthisis 11	Anisocoria	OMIM:613550
Marden-Walker Syndrome	Microphthalmia	OMIM:248700
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos	ORPHA:369891
Roberts-Sc Phocomelia Syndrome	Absent thumb, Tetraphocomelia, Biliary tract abnormality, Long penis, Phocomelia, Radial deviatio...	OMIM:268300
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Pseudo-Torch Syndrome 2	Gray matter heterotopia, Polymicrogyria	OMIM:617397
Peroxisome Biogenesis Disorder 1A (Zellweger)	Gray matter heterotopia, Loss of ambulation, Dysphagia, Unsteady gait, Polymicrogyria	OMIM:214100
Norrie Disease	Abnormal pupil morphology, Hypoplasia of the iris, Anterior chamber synechiae, Uterine rupture, A...	ORPHA:649
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Lens subluxation, Corneal opacity, Ectopia pupillae	ORPHA:85167
Knobloch Syndrome 1	Iris transillumination defect, Slow pupillary light response, Developmental cataract, Lens sublux...	OMIM:267750
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Anisocoria, Micropenis, Supernumerary nipple, Cryptorchidism	OMIM:618653
Joubert Syndrome 14	Microphthalmia	OMIM:614424
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Oculocerebrorenal Syndrome Of Lowe	Abnormal pupil morphology, Lentiglobus, Azoospermia, Buphthalmos, Cataract, Hyperparathyroidism, ...	ORPHA:534
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Alkuraya-Kucinskas Syndrome	Gray matter heterotopia, Lissencephaly	OMIM:617822
Orofaciodigital Syndrome Type 6	Gait disturbance, Abnormality of neuronal migration, Ataxia	ORPHA:2754
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia	OMIM:241410
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Congenital Disorder Of Deglycosylation 2	Dysphagia, Gray matter heterotopia, Polymicrogyria	OMIM:619775
Charge Syndrome	Gonadotropin deficiency, Secundum atrial septal defect, Iris coloboma, Parathyroid hypoplasia, Hy...	OMIM:214800
Carnitine Palmitoyltransferase Ii Deficiency	Abnormality of neuronal migration, Pachygyria, Polymicrogyria	ORPHA:157
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
3Q29 Microduplication Syndrome	Microphthalmia, Aniridia	ORPHA:251038
Koolen-De Vries Syndrome	Gray matter heterotopia, Anxiety, Conspicuously happy disposition	OMIM:610443
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	OMIM:616449
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia	ORPHA:1352
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia	OMIM:618571
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia	ORPHA:2505
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Hypsarrhythmia, Gray matter heterotopia, Frontal polymicrogyria, Pachygyria	OMIM:620024
Revesz Syndrome	Leukocoria, Megalocornea	OMIM:268130
Trichinellosis	Anisocoria, Abnormal uvea morphology, Conjunctival hyperemia, Conjunctivitis	ORPHA:863
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia	ORPHA:2728
Achalasia-Addisonianism-Alacrima Syndrome	Anisocoria	OMIM:231550
Thanatophoric Dysplasia, Type I	Gray matter heterotopia	OMIM:187600
Peroxisome Biogenesis Disorder 13A (Zellweger)	Gray matter heterotopia, Polymicrogyria	OMIM:614887
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Decreased response to growth hormone stimulation test, Hypoparathyroidism, Aplasia of the thymus,...	OMIM:618223
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia	OMIM:613001
Micro Syndrome	Microphthalmia	ORPHA:2510
Oculo-Palato-Cerebral Syndrome	Leukocoria, Cataract	ORPHA:2714
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Thanatophoric Dysplasia Type 1	Gray matter heterotopia	ORPHA:1860
Adams-Oliver Syndrome	Microphthalmia	ORPHA:974
Martsolf Syndrome 1	Microphthalmia	OMIM:212720
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Abnormality of neuronal migration, Pachygyria, Polymicrogyria	ORPHA:228308
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia	OMIM:618797
Scalp-Ear-Nipple Syndrome	Breast aplasia, Developmental cataract, Iris coloboma, Cataract, Anisocoria	OMIM:181270
Chromosome 13Q33-Q34 Deletion Syndrome	Microphthalmia	OMIM:619148
Bohring-Opitz Syndrome	Gastroesophageal reflux, Gray matter heterotopia	OMIM:605039
Miller-Dieker Lissencephaly Syndrome	Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria	OMIM:247200
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Retinoblastoma	Leukocoria, Uveitis, Pineoblastoma, Heterochromia iridis, Hypopyon	ORPHA:790
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Periventricular heterotopia	OMIM:618870
Van Maldergem Syndrome 2	Gray matter heterotopia, Subcortical band heterotopia, Periventricular nodular heterotopia	OMIM:615546
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Charcot-Marie-Tooth Disease Type 4C	Anisocoria, Abnormal pupillary light reflex	ORPHA:99949
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Periventricular heterotopia, Self-injurious behavior, Simplified gyral pattern, Lissencephaly, Pa...	ORPHA:468631
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia	OMIM:608624
Holoprosencephaly	Constipation, Gastroesophageal reflux, Cognitive impairment, Abnormality of neuronal migration	ORPHA:2162
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Cutis Marmorata Telangiectatica Congenita	Leukocoria, Displacement of the urethral meatus	ORPHA:1556
Frontorhiny	Microphthalmia	ORPHA:391474
Trichothiodystrophy 1, Photosensitive	Microphthalmia	OMIM:601675
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia	OMIM:302960
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Frontonasal Dysplasia 2	Microphthalmia	OMIM:613451
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Phace Association	Microphthalmia, Optic nerve hypoplasia	OMIM:606519
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Anisocoria	OMIM:615510
Oculoauricular Syndrome	Macular hypoplasia, Phthisis bulbi, Microphthalmia, Microphakia	OMIM:612109
Microphthalmia, Lenz Type	Microphthalmia	ORPHA:568
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia	OMIM:614230
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
Cohen Syndrome	Microphthalmia	ORPHA:193
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Polycoria, Corneal neovascularization, Developmental cataract, Microcorne...	OMIM:175780
Mosaic Trisomy 1	Microphthalmia	ORPHA:1692
Retinoblastoma	Leukocoria, Pinealoma	OMIM:180200
Mosaic Trisomy 9	Microphthalmia	ORPHA:99776
3Q29 Microdeletion Syndrome	Microphthalmia	ORPHA:65286
Nijmegen Breakage Syndrome	Chronic diarrhea, Abnormality of neuronal migration, Mental deterioration	ORPHA:647
Pseudotrisomy 13 Syndrome	Microphthalmia	OMIM:264480
Duane-Radial Ray Syndrome	Optic disc hypoplasia, Microphthalmia	OMIM:607323
Stromme Syndrome	Microphthalmia, Optic nerve hypoplasia	OMIM:243605
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia	OMIM:253800
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Microphthalmia	OMIM:251300
Coffin-Lowry Syndrome	Coxa valga, Tapered finger, Short metacarpal, Hyperextensibility of the finger joints, Narrow ili...	OMIM:303600
Joubert Syndrome 2	Microphthalmia	OMIM:608091
Galloway-Mowat Syndrome 3	Microphthalmia	OMIM:617729
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Gastroesophageal reflux, Gray matter heterotopia, Constipation	ORPHA:453499
Papillorenal Syndrome	Microphthalmia	OMIM:120330
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Wolf-Hirschhorn Syndrome	Ectopia pupillae, Precocious puberty, Rieger anomaly, Aplasia of the uterus, Iris coloboma, Hypos...	OMIM:194190
Fryns Syndrome	Microphthalmia	ORPHA:2059
Meckel Syndrome 14	Microphthalmia	OMIM:619879
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	ORPHA:464738
Vacterl With Hydrocephalus	Microphthalmia, Anophthalmia	ORPHA:3412
Focal Dermal Hypoplasia	Hypoplasia of the iris, Microphthalmia	ORPHA:2092
Craniorachischisis	Bifid sternum	ORPHA:63260
Premature Aging Syndrome, Penttinen Type	Microphthalmia	OMIM:601812
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Buphthalmos, Microphthalmia, Optic nerve hypoplasia	OMIM:236670
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia	OMIM:219730
Fanconi Anemia, Complementation Group F	Microphthalmia	OMIM:603467
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Mowat-Wilson Syndrome	Bifid scrotum, Supernumerary nipple, Microcornea, Iris coloboma, Cataract, Hypospadias, Cryptorch...	OMIM:235730
16Q24.3 Microdeletion Syndrome	Periventricular heterotopia, Dysphagia	ORPHA:261250
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Gray matter heterotopia, Inability to walk, Episodic vomiting, Constipation, Gastroparesis	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Gray matter heterotopia, Inability to walk, Episodic vomiting, Constipation, Gastroparesis	ORPHA:352665
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Opitz-Kaveggia Syndrome	Gray matter heterotopia, Constipation	OMIM:305450
Holoprosencephaly 14	Gray matter heterotopia, Periventricular heterotopia, EEG abnormality	OMIM:619895
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia	ORPHA:364577
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos	ORPHA:2839
2Q31.1 Microdeletion Syndrome	Microphthalmia	ORPHA:251014
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Superficial Siderosis	Anisocoria	ORPHA:247245
1Q21.1 Microdeletion Syndrome	Microphthalmia	ORPHA:250989
Curry-Jones Syndrome	Microphthalmia	OMIM:601707
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos	OMIM:618874
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Abnormal pupil morphology, Bifid scrotum, Webbed penis, Axenfeld anomaly, Hydrocele testis, Micro...	ORPHA:261552
Cousin Syndrome	Microphthalmia	OMIM:260660
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia	OMIM:308300
Dubowitz Syndrome	Hypoplasia of the iris, Microphthalmia	OMIM:223370
Trisomy 18	Microphthalmia	ORPHA:3380
Hallermann-Streiff Syndrome	Microphthalmia	OMIM:234100
Jacobsen Syndrome	Macular hypoplasia, Microphthalmia	OMIM:147791
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia	OMIM:616300
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Microphallus, Phimosis, Unilateral cryptor...	OMIM:613406
Fanconi Anemia, Complementation Group C	Microphthalmia	OMIM:227645
Incontinentia Pigmenti	Microphthalmia	ORPHA:464
Acromelic Frontonasal Dysostosis	Gray matter heterotopia, Periventricular nodular heterotopia	OMIM:603671
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Mycophenolate Mofetil Embryopathy	Microphthalmia	ORPHA:268249
Cat Eye Syndrome	Microphthalmia	OMIM:115470
Pallister-Hall Syndrome	Microphthalmia	OMIM:146510
Steinfeld Syndrome	Microphthalmia	OMIM:184705
Monosomy 9Q22.3	Microphthalmia	ORPHA:77301
Microphthalmia, Syndromic 9	Bilateral microphthalmos, Anophthalmia	OMIM:601186
Histiocytoid Cardiomyopathy	Microphthalmia, Congenital aphakia	ORPHA:137675
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Basal Cell Nevus Syndrome 1	Microphthalmia	OMIM:109400
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Vici Syndrome	Gray matter heterotopia, Dysphagia	OMIM:242840
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Optic nerve hypoplasia	ORPHA:508498
Aicardi Syndrome	Gray matter heterotopia, Pachygyria, Polymicrogyria	OMIM:304050
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Fanconi Anemia, Complementation Group D2	Microphthalmia	OMIM:227646
Rothmund-Thomson Syndrome, Type 2	Microphthalmia	OMIM:268400
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Gastroesophageal reflux, Gray matter heterotopia, Abnormal cortical gyration, Microlissencephaly,...	OMIM:210710
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Anophthalmia	ORPHA:2538
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610829
Fanconi Anemia, Complementation Group L	Microphthalmia	OMIM:614083
Hallermann-Streiff Syndrome	Microphthalmia	ORPHA:2108
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia	ORPHA:2526
Phace Syndrome	Lens coloboma, Microphthalmia, Optic nerve hypoplasia	ORPHA:42775
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia	ORPHA:1052
Cockayne Syndrome B	Hypoplasia of the iris, Microphthalmia	OMIM:133540
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia	ORPHA:2166
Arima Syndrome	Gray matter heterotopia, Ataxia	OMIM:243910
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia	OMIM:616975
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Aicardi Syndrome	Microphthalmia	ORPHA:50
Orofaciodigital Syndrome I	Gray matter heterotopia, Abnormal cortical gyration	OMIM:311200
Microphthalmia With Limb Anomalies	True anophthalmia, Microphthalmia	ORPHA:1106
Trichothiodystrophy	Bilateral microphthalmos	ORPHA:33364
Treacher-Collins Syndrome	Microphthalmia	ORPHA:861
Bartsocas-Papas Syndrome 1	Microphthalmia	OMIM:263650
Osteoporosis-Pseudoglioma Syndrome	Phthisis bulbi, Microphthalmia	OMIM:259770
Holoprosencephaly 7	Bilateral microphthalmos, Microphthalmia	OMIM:610828
Cockayne Syndrome Type 3	Microphthalmia	ORPHA:90324
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia	OMIM:609945
Fanconi Anemia	Aplasia/Hypoplasia of the iris, Microphthalmia	ORPHA:84
Vascular Ehlers-Danlos Syndrome	Abnormal pupil morphology, Uterine rupture, Hypospadias, Cystocele, Cryptorchidism, Uterine prola...	ORPHA:286
Mend Syndrome	Microphthalmia	ORPHA:401973
Smith-Lemli-Opitz Syndrome	Gastroesophageal reflux, Vomiting, Aggressive behavior, Periventricular heterotopia, Constipation...	OMIM:270400
Sponastrime Dysplasia	Microcoria, Precocious puberty, Hypospadias, Cataract, Congenital aphakia	ORPHA:93357
Monosomy 9P	Microphthalmia	ORPHA:261112
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia	OMIM:601552
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia, Anophthalmia	ORPHA:2556
22Q11.2 Deletion Syndrome	Microphthalmia	ORPHA:567
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Hypoplasia of the retina, Microphthalmia	OMIM:253280
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia	ORPHA:3186
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia	OMIM:276300
Myhre Syndrome	Microphthalmia	OMIM:139210
Roberts Syndrome	Microphthalmia	ORPHA:3103
Cockayne Syndrome	Microphthalmia	ORPHA:191
Fryns Syndrome	Microphthalmia	OMIM:229850
Proboscis Lateralis	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	ORPHA:141099
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Meckel Syndrome, Type 1	Microphthalmia	OMIM:249000
Microphthalmia, Syndromic 2	Microphthalmia, Phthisis bulbi, Anophthalmia	OMIM:300166
Frontofacionasal Dysplasia	Microphthalmia	OMIM:229400
Degcags Syndrome	Microphthalmia	OMIM:619488
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia	OMIM:616734
Genitourinary And/Or Brain Malformation Syndrome	Gray matter heterotopia, Polymicrogyria	OMIM:618820
Fontaine Progeroid Syndrome	Gastroesophageal reflux, Gray matter heterotopia, Periventricular heterotopia	OMIM:612289
Charge Syndrome	Microphthalmia, Anophthalmia	ORPHA:138
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia	OMIM:608670
Pagod Syndrome	Abnormality of neuronal migration	ORPHA:991
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia	ORPHA:306542
Yunis-Varon Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:3472
Mowat-Wilson Syndrome	Vomiting, Dysphagia, Periventricular heterotopia, Inability to walk, Enterocolitis, Happy demeano...	ORPHA:2152
Focal Dermal Hypoplasia	Microphthalmia, Aniridia, Anophthalmia	OMIM:305600
Chromosome 13Q14 Deletion Syndrome	Microphthalmia	OMIM:613884
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia	OMIM:612474
Renpenning Syndrome 1	Microphthalmia	OMIM:309500
Adams-Oliver Syndrome 1	Microphthalmia	OMIM:100300
Fraser Syndrome	Microphthalmia, Anophthalmia	ORPHA:2052
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Gray matter heterotopia, Type II lissencephaly	OMIM:615287
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Periventricular heterotopia, Inability to walk, EEG abnormality, Happy demeanor, Episodic vomitin...	ORPHA:261537
Neuroocular Syndrome	Hypoplasia of the fovea, Microphthalmia, Lens coloboma	OMIM:619539
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos	ORPHA:93325
Lowe Oculocerebrorenal Syndrome	Microphthalmia	OMIM:309000
Neu-Laxova Syndrome 1	Microphthalmia	OMIM:256520
Fraser Syndrome 1	Bilateral microphthalmos, Anophthalmia	OMIM:219000
Orofaciodigital Syndrome Xiv	Simplified gyral pattern, Periventricular heterotopia, Polymicrogyria	OMIM:615948
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia	OMIM:607932
Pallister-Hall Syndrome	Microphthalmia	ORPHA:672
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Proteus Syndrome	Gray matter heterotopia	ORPHA:744
Hydrolethalus Syndrome 1	Gray matter heterotopia, Abnormal cortical gyration	OMIM:236680
Branchiooculofacial Syndrome	Microphthalmia, Anophthalmia	OMIM:113620
8Q24.3 Microdeletion Syndrome	Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:508488
Holoprosencephaly 2	Microphthalmia	OMIM:157170
Holoprosencephaly 1	Microphthalmia	OMIM:236100
Genitopatellar Syndrome	Periventricular heterotopia, Pachygyria, Dysphagia	OMIM:606170
Orofaciodigital Syndrome Type 14	Periventricular heterotopia	ORPHA:434179
Craniofacial Microsomia	Microphthalmia, Anophthalmia	OMIM:164210
Microphthalmia, Syndromic 1	Microphthalmia, Anophthalmia	OMIM:309800

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 hypoplasia	Dync1li1^em1(IMPC)Tcp	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 Dync1li1.

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

Title	Journal	IMPC Allele	PubMed ID
Proteotyping of knockout mouse strains reveals sex- and strain-specific signatures in blood plasma.	NPJ systems biology and applications (May 2021)	Dync1li1^em1(IMPC)Tcp	PMC8163790

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MGI Allele	Allele Type	Produced
Dync1li1^em1(IMPC)Tcp	Exon Deletion	Mice, Tissue
Dync1li1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Dync1li1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

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