Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

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
small heart	Dync1li1^em1(IMPC)Tcp	HET	Late adult	0.00
mydriasis	Dync1li1^em1(IMPC)Tcp	HOM	Early adult	4.49×10^-06
increased red blood cell distribution width	Dync1li1^em1(IMPC)Tcp	HET	Early adult	3.80×10^-05
abnormal liver morphology	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
enlarged lymph nodes	Dync1li1^em1(IMPC)Tcp	HET	Early adult	0.00
abnormal lung morphology	Dync1li1^em1(IMPC)Tcp	HET	Early adult	0.00
abnormal seminal vesicle morphology	Dync1li1^em1(IMPC)Tcp	HET	Late adult	0.00
preweaning lethality, incomplete penetrance	Dync1li1^em1(IMPC)Tcp	HOM	Early adult	0.00
abnormal testis morphology	Dync1li1^em1(IMPC)Tcp	HET	Late adult	0.00
abnormal skin morphology	Dync1li1^em1(IMPC)Tcp	HET	Late adult	0.00
abnormal seminal vesicle morphology	Dync1li1^em1(IMPC)Tcp	HOM	Early adult	0.00
enlarged prostate gland	Dync1li1^em1(IMPC)Tcp	HET	Late adult	0.00
abnormal sternum morphology	Dync1li1^em1(IMPC)Tcp	HET	Late adult	0.00
small kidney	Dync1li1^em1(IMPC)Tcp	HET	Late adult	0.00

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

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.

Eye Morphology

Images Slit Lamp

25 Images

View images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

Histopathology

Images

13 Images

View images

Eye Morphology

Images Ophthalmoscopy

58 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images

Gross Pathology and Tissue Collection

Images

19 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

Gross Pathology and Tissue Collection

Images

13 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

View images

X-ray

XRay Images Skull Lateral Orientation

12 Images

View images

X-ray

XRay Images Skull Lateral Orientation

10 Images

View images

Histopathology

Images

3 Images

View images

Eye Morphology

Images Slit Lamp

3 Images

View images

Eye Morphology

Images Ophthalmoscopy

3 Images

View images

Immunophenotyping

Panel A FCS file(s)

2 Images

View images

Immunophenotyping

Panel A FCS file(s)

2 Images

View images

Immunophenotyping

Panel B FCS file(s)

2 Images

View images

Immunophenotyping

Panel B FCS file(s)

2 Images

View images

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 (674 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
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis	OMIM:603529
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Exfoliation Syndrome	Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes...	OMIM:177650
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v...	ORPHA:3203
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia, Anemia of inadequate production, Reticulocytosis, Poikilocytosis, Anisocytosis, Splenomeg...	OMIM:615631
Pupillary Membrane, Persistence Of	Developmental cataract, Persistent pupillary membrane, Megalocornea	OMIM:178900
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Anisocytosis, Hypochromic microcytic anemia	OMIM:206200
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Pulmonary Nodular Lymphoid Hyperplasia	Nodular pattern on pulmonary HRCT, Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperpl...	ORPHA:60026
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Reticuloendotheliosis, X-Linked	Anemia, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic...	ORPHA:67044
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Nodular Neuronal Heterotopia	Abnormality of neuronal migration, EEG abnormality	ORPHA:2149
Immunodeficiency 75 With Lymphoproliferation	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Bronc...	OMIM:619126
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ...	ORPHA:86841
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Hypsarrhythmia, Agyria, Gray matter heterotopia, Pachygyria, EEG with changes in voltage	ORPHA:1084
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Poikilocytosis, Bone marrow hypocellularity, Elliptocytosis, Anisocytosis, Thr...	OMIM:300835
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Agyria, Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Lissencephaly	OMIM:615411
Sub-Cortical Nodular Heterotopia	EEG with focal slow activity, Polymicrogyria, EEG with focal spikes, Abnormality of neuronal migr...	ORPHA:101029
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Rh-Null, Amorph Type	Stomatocytosis, Anisocytosis, Hemolytic anemia, Reticulocytosis	OMIM:617970
Gombo Syndrome	Microphthalmia	OMIM:233270
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Anterior Segment Dysgenesis 8	Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,...	OMIM:617319
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Attention deficit hyperactivity disorder, Abnormality of neuronal migration, Ataxia, Motor stereo...	OMIM:618709
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Hyperactivity, Polymicrogyria, Gray matter heterotopia, Impulsivity, Abnormality of neuronal migr...	OMIM:604317
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anemia, Hypochromia, Anisocytosis, Hepatosplenomegaly, Splenomegaly, Decreased mean corpuscular v...	OMIM:616860
Lissencephaly 1	Agyria, Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Lissencephaly	OMIM:607432
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Uveal Melanoma	Mydriasis, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Iris melanoma	ORPHA:39044
Symmetrical Thalamic Calcifications	Abnormality of neuronal migration, EEG abnormality, Ataxia, Cognitive impairment	ORPHA:1314
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia	OMIM:611638
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Hypsarrhythmia, Periventricular nodular heterotopia, Periventricular heterotopia	OMIM:608097
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, Reticulocytosis...	OMIM:224120
Nanophthalmos 4	Microphthalmia	OMIM:615972
Anemia, Congenital Dyserythropoietic, Type Iv	Reduced hematocrit, Anemia, Anemia of inadequate production, Persistence of hemoglobin F, Reticul...	OMIM:613673
X-Linked Corneal Dermoid	Corneal opacity, Abnormal pupil morphology	ORPHA:1661
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Lissencephaly 3	Polymicrogyria, Agyria, Gray matter heterotopia, Ataxia, Pachygyria, Lissencephaly, Periventricul...	OMIM:611603
Lissencephaly, X-Linked, 1	Agyria, Gray matter heterotopia, Ataxia, Pachygyria, Lissencephaly	OMIM:300067
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration, EEG abnormality, Cognitive impairment	ORPHA:2216
Anterior Segment Dysgenesis 3	Abnormal iris vasculature, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Posterior e...	OMIM:601631
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Respiratory tract infection, Splenomegaly, Lymphope...	ORPHA:444463
Nanophthalmos	Microphthalmia	ORPHA:35612
Microlissencephaly	Polymicrogyria, Subcortical heterotopia, Simplified gyral pattern, Pachygyria, Lissencephaly, Per...	ORPHA:1083
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity	Periventricular nodular heterotopia, Inability to walk	OMIM:618572
Beta-Thalassemia, Dominant Inclusion Body Type	Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc...	OMIM:603902
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231242
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Pandas	Anorexia, Irritability, Encopresis, Obsessive-compulsive trait, Abnormal fear-induced behavior, D...	ORPHA:66624
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Anisocytosis, ...	OMIM:300908
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Hemimegalencephaly	EEG with polyspike wave complexes, Polymicrogyria, EEG with focal spikes, Gray matter heterotopia...	ORPHA:99802
Periventricular Nodular Heterotopia 6	Hypsarrhythmia, Periventricular nodular heterotopia	OMIM:615544
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormal temper tantrums, Aggressive behavior, Interictal epileptiform activity, EEG with focal s...	ORPHA:163681
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Mydriasis	OMIM:619365
Intestinal Botulism	Mydriasis	ORPHA:178481
Toxin-Mediated Infectious Botulism	Mydriasis	ORPHA:230800
Ectopia Lentis Et Pupillae	Iris transillumination defect, Persistent pupillary membrane, Ectopia lentis, Ectopia pupillae, C...	OMIM:225200
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Mydriasis	ORPHA:247815
Rh Deficiency Syndrome	Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatosplenomegaly,...	ORPHA:71275
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Iridocorneal Endothelial Syndrome	Polycoria, Iris nevus, Posterior synechiae of the anterior chamber, Corneal stromal edema, Iris a...	ORPHA:64734
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Recurrent lower respirato...	OMIM:619220
Congenital Dyserythropoietic Anemia Type Iii	Anemia, Increased mean corpuscular volume, Poikilocytosis, Anisocytosis, Abnormal erythrocyte mor...	ORPHA:98870
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Anorexia, Irritability, Focal EEG discharges with secondary generalization, Abnormal fear-induced...	ORPHA:3077
Iatrogenic Botulism	Mydriasis	ORPHA:254509
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Microcoria, Congenital	Miosis, Hypoplasia of the iris dilator muscle, Microcoria	OMIM:156600
Wound Botulism	Mydriasis	ORPHA:178475
Inhalational Botulism	Mydriasis	ORPHA:254504
Orotic Aciduria	Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia...	OMIM:258900
Corneal Dystrophy, Posterior Amorphous	Corneal dystrophy, Ectopia pupillae, Iris coloboma	OMIM:612868
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Abnormal pulmonary interstitial morphology, Anemia, Lymphadenopathy, Hemophagocytosis, Recurrent ...	OMIM:613101
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Recurrent si...	OMIM:619846
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Aggressive behavior, Abnormal fear-induced behavior, Delirium, Pseudobulbar paralysis	ORPHA:208441
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Splenomegaly, Lymphop...	OMIM:619164
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Recurrent upper respiratory tract infections, Bronchiectasis, Absenc...	OMIM:608184
Botulism	Mydriasis	ORPHA:1267
Myopia 27, Autosomal Dominant	Increased axial length of the globe	OMIM:618827
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ...	OMIM:616959
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Pituitary Apoplexy	Mydriasis, Decreased response to growth hormone stimulation test, Reduced circulating prolactin c...	ORPHA:95613
Isolated Splenogonadal Fusion	Abnormal epididymis morphology, Ectopia of the spleen, Bilateral cryptorchidism, Unilateral crypt...	ORPHA:457083
Foodborne Botulism	Mydriasis	ORPHA:228371
Corneal Dystrophy, Posterior Polymorphous, 1	Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma...	OMIM:122000
Polymicrogyria Due To Tubb2B Mutation	Abnormal temper tantrums, Polymicrogyria, Gray matter heterotopia, Cognitive impairment, Perisylv...	ORPHA:300573
Foveal Hypoplasia 2	Microphthalmia, Hypoplasia of the fovea	OMIM:609218
Infant Botulism	Mydriasis, Keratoconjunctivitis sicca	ORPHA:178478
Miller Fisher Syndrome	Mydriasis, Anisocoria	ORPHA:98919
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia	OMIM:615113
Chudley-Mccullough Syndrome	Polymicrogyria, Gray matter heterotopia	OMIM:604213
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Anemia, Hypochromic microcytic anemia, Howell-Jolly bodies, Poikilocytosis, Sideroblastic anemia,...	OMIM:301310
Smooth Muscle Dysfunction Syndrome	Mydriasis, Cryptorchidism	OMIM:613834
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, B lymphocytopenia, Lymphopenia, Eosinophili...	OMIM:602450
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Attention deficit hyperactivity disorder, Periventricular nodular heterotopia, Motor stereotypy	OMIM:620065
Kimura Disease	Follicular hyperplasia, Eosinophilia, Lymphadenopathy	ORPHA:482
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Corneal dystrophy, Ectopia pupillae, Corneal guttata	OMIM:609141
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Chronic hemolytic anemia, Atelectasis, Leukocytosis, Reticulocytosis, Poikilocytosis, Elliptocyto...	OMIM:618278
Mmep Syndrome	Microphthalmia	ORPHA:3434
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Inability to walk, Truncal ataxia, Unsteady gait, Simplified gyral pattern, Periventricular heter...	OMIM:618273
Serotonin Syndrome	Mydriasis	ORPHA:43116
Dominant Beta-Thalassemia	Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o...	ORPHA:231226
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Woolly Hair Nevus	Precocious puberty, Persistent pupillary membrane, Heterochromia iridis	ORPHA:79414
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration	ORPHA:1980
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Osteopetrosis, Autosomal Recessive 5	Stillbirth, Mydriasis	OMIM:259720
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Neutropenia, Recurrent lower respiratory tract infections, Pancytopenia, Abnormally low T cell re...	OMIM:618986
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Posterior Polymorphous Corneal Dystrophy	Astigmatism, Chorioretinal degeneration, Corneal stromal edema, Corneal opacity, Abnormal Desceme...	ORPHA:98973
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Subependymal Nodular Heterotopia	Polymicrogyria, Gray matter heterotopia, Interictal EEG abnormality, Abnormality of neuronal migr...	ORPHA:101030
Hec Syndrome	Developmental cataract, Abnormal pupil morphology, Vaginal hydrocele	ORPHA:2119
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology	ORPHA:101082
Porphyria Due To Ala Dehydratase Deficiency	Agitation, Difficulty walking, Abnormal fear-induced behavior, Episodic vomiting, Diarrhea, Depre...	ORPHA:100924
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Anisocytosis	OMIM:604273
Arachnoid Cyst	Mydriasis	ORPHA:2356
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ...	ORPHA:543
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia, Dysphagia, Cognitive impairment	OMIM:617008
Facial Spasm	Anisocoria	OMIM:134300
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Glutathionuria	Constipation, Dysdiadochokinesis, Gray matter heterotopia	OMIM:231950
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia	OMIM:619101
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Dysgyria, Type II lissencephaly, Gray matter heterotopia	ORPHA:352682
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Alternating Hemiplegia Of Childhood	Mydriasis	ORPHA:2131
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
X-Linked Recessive Ocular Albinism	Iris hypopigmentation, Astigmatism, Abnormal pupil morphology, Ocular albinism	ORPHA:54
Congenital Muscular Dystrophy Without Intellectual Disability	Tip-toe gait, Difficulty walking, Gray matter heterotopia, Pachygyria	ORPHA:370980
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc...	OMIM:613179
Woolly Hair	Cataract, Abnormal pupil morphology	ORPHA:170
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology	OMIM:160565
Fragile X Syndrome	Hyperactivity, Folate-dependent fragile site at Xq28, Recurrent hand flapping, Periventricular he...	OMIM:300624
Band Heterotopia	Subcortical band heterotopia, Polymicrogyria, Gray matter heterotopia	OMIM:600348
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Tetrasomy 18P	Achalasia, Abnormality of neuronal migration, Gait disturbance	ORPHA:3307
Intellectual Developmental Disorder, X-Linked 12	Depression, Abnormality of neuronal migration, Gait disturbance	OMIM:300957
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Bickerstaff Brainstem Encephalitis	Mydriasis, Anisocoria	ORPHA:79138
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Iris coloboma, Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior cham...	OMIM:221900
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormal lymph node morphology, Anemia, Abnormality of the lymphatic system, Abnormal lung morpho...	ORPHA:54251
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration	OMIM:236795
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Mydriasis	OMIM:619351
Lissencephaly 6 With Microcephaly	Polymicrogyria, Microlissencephaly, Simplified gyral pattern, Pachygyria, Lissencephaly, Perivent...	OMIM:616212
Cocaine Intoxication	Mydriasis	ORPHA:90068
Cofs Syndrome	Microphthalmia	ORPHA:1466
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of CD3-positive T cells, Abnormally low T cell receptor excision circle leve...	ORPHA:276
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
Lissencephaly Syndrome, Norman-Roberts Type	Microlissencephaly, Abnormality of neuronal migration, 4-layered lissencephaly, Dysphagia	ORPHA:89844
Periventricular Nodular Heterotopia 7	Hypsarrhythmia, Polymicrogyria, Gray matter heterotopia, Ataxia, Periventricular nodular heterotopia	OMIM:617201
Isolated Ectopia Lentis	Cataract, Ectopia lentis, Ectopia pupillae	ORPHA:1885
Scorpion Envenomation	Mydriasis, Miosis	ORPHA:466677
Lissencephaly 5	Subcortical band heterotopia, Type II lissencephaly, Gray matter heterotopia	OMIM:615191
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Leukocyte Adhesion Deficiency, Type Iii	Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Extramedu...	OMIM:612840
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia	OMIM:164180
Alexander Disease	Microcoria	OMIM:203450
Cat-Eye Syndrome	Microphthalmia	ORPHA:195
Anterior Segment Dysgenesis 5	Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris	OMIM:604229
Congenital Primary Aphakia	Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita...	ORPHA:83461
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Brain Small Vessel Disease 2	Polymicrogyria, Subcortical heterotopia	OMIM:614483
Phacoanaphylactic Uveitis	Abnormal corneal endothelium morphology, Hypopyon, Corneal stromal edema, Posterior uveitis, Ante...	ORPHA:209959
Craniotubular Dysplasia, Ikegawa Type	Mydriasis	OMIM:619727
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Chorioretinal scar, Iris atrophy, Heterochromia iridis, Anis...	ORPHA:263479
Norrie Disease	Buphthalmos, Corneal opacity, Hypoplasia of the iris, Shallow anterior chamber, Leukocoria, Catar...	OMIM:310600
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Axenfeld-Rieger Syndrome, Type 1	Decreased response to growth hormone stimulation test, Polycoria, Aniridia, Hypospadias, Microcor...	OMIM:180500
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of neuronal migration	ORPHA:2204
Proteus-Like Syndrome	Thymus hyperplasia, Heterochromia iridis, Cataract, Limbal dermoid, Polycystic ovaries, Abnormali...	ORPHA:2969
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Abnormality of neuronal migration, Pachygyria	OMIM:608840
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Short Syndrome	Abnormal anterior chamber morphology, Corneal opacity, Megalocornea, Hypoplasia of the iris, Post...	ORPHA:3163
Aniridia 1	Corneal neovascularization, Aniridia, Corneal erosion, Hypoplasia of the iris, Anterior subcapsul...	OMIM:106210
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology	ORPHA:2151
Pierpont Syndrome	Microphthalmia	OMIM:602342
Autosomal Recessive Primary Microcephaly	Gray matter heterotopia, Pachygyria	ORPHA:2512
Coats Disease	Leukocoria	OMIM:300216
Agammaglobulinemia, X-Linked	Neutropenia, Recurrent lower respiratory tract infections, Anemia, B lymphocytopenia, T lymphocyt...	OMIM:300755
Warburg Micro Syndrome 1	Microphthalmia	OMIM:600118
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Radio-Tartaglia Syndrome	Gait imbalance, Gastroesophageal reflux, Gray matter heterotopia, Impulsivity, Constipation, Atax...	OMIM:619312
Meckel Syndrome, Type 8	Microphthalmia, Anophthalmia	OMIM:613885
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Neonatal Adrenoleukodystrophy	Abnormality of neuronal migration, EEG abnormality	ORPHA:44
Periventricular Nodular Heterotopia 1	Abnormality of neuronal migration, Gray matter heterotopia	OMIM:300049
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp...	ORPHA:2334
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Bent Bone Dysplasia Syndrome 2	Hepatomegaly, Short 1st metacarpal, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplas...	OMIM:620076
Unilateral Ocular Duplication	Microcornea, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Familial Infantile Myoclonic Epilepsy	EEG with focal spike waves, Gait disturbance, Interictal EEG abnormality, Ataxia, Periventricular...	ORPHA:352582
Congenital Toxoplasmosis	Microphthalmia	ORPHA:858
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Axenfeld-Rieger Syndrome, Type 3	Posterior embryotoxon, Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypoplasia ...	OMIM:602482
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia	ORPHA:48431
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Congenital Erythropoietic Porphyria	Reticulocytosis, Poikilocytosis, Anisocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Erythr...	ORPHA:79277
Acalvaria	Abnormality of neuronal migration	ORPHA:945
Meige Disease	Pleural effusion, Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Lissencephaly 8	Microphthalmia	OMIM:617255
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia	OMIM:613730
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Li-Ghorbani-Weisz-Hubshman Syndrome	Attention deficit hyperactivity disorder, Periventricular heterotopia	OMIM:618974
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Anterior Segment Dysgenesis 2	Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia	OMIM:610256
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Leber Congenital Amaurosis	Abnormality of neuronal migration	ORPHA:65
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia	ORPHA:93267
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Periventricular Nodular Heterotopia 9	Broad-based gait, Interictal epileptiform activity, Polymicrogyria, Gray matter heterotopia, Comp...	OMIM:618918
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Galloway-Mowat Syndrome	Abnormality of neuronal migration, EEG abnormality, Pachygyria, Cognitive impairment	ORPHA:2065
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Irritability, Gastroesophageal reflux, Ataxia, Self-injurious behavior, Periventricular heterotop...	OMIM:619833
Alagille Syndrome	Keratoconus, Corneal dystrophy, Cryptorchidism, Abnormal pupil morphology	ORPHA:52
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Persistent Hyperplastic Primary Vitreous	Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Developmen...	ORPHA:91495
Thanatophoric Dysplasia Type 2	Abnormality of neuronal migration, Cognitive impairment	ORPHA:93274
Plague	Conjunctival hyperemia, Mydriasis	ORPHA:707
Chiari Malformation Type Ii	Ataxia, Gray matter heterotopia, Dysphagia	OMIM:207950
Congenital Rubella Syndrome	Microphthalmia, Aplasia/Hypoplasia of the iris	ORPHA:290
Bilateral Perisylvian Polymicrogyria	Perisylvian predominant thick cortex pachygyria, Gastroesophageal reflux, EEG with polyspike wave...	ORPHA:98889
Congenital Fibrosis Of Extraocular Muscles	Anisocoria, Miosis, Cataract, Hypogonadotropic hypogonadism, Abnormal pupil shape, Slow pupillary...	ORPHA:45358
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormality of neuronal migration	ORPHA:2772
Joubert Syndrome 30	Polymicrogyria, Gray matter heterotopia	OMIM:617622
Hypomelanosis Of Ito	Gray matter heterotopia	OMIM:300337
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Hypospadias, Microcornea, Precocious puberty, Sclerocornea, Ectopia pupillae, Cataract	OMIM:615877
Chromosome 16Q12 Duplication Syndrome	Cataract, Anisocoria	OMIM:619649
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microphthalmia	OMIM:614833
Alg11-Cdg	Ataxia, Gray matter heterotopia, Episodic vomiting, EEG with burst suppression	ORPHA:280071
Meckel Syndrome, Type 5	Microphthalmia	OMIM:611561
Frontonasal Dysplasia 1	Microphthalmia	OMIM:136760
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Charcot-Marie-Tooth Disease Type 1E	Anisocoria, Abnormal pupil morphology, Tonic pupil, Slow pupillary light response	ORPHA:90658
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Microphthalmia, Syndromic 5	Optic nerve hypoplasia, Microphthalmia, Anophthalmia	OMIM:610125
Joubert Syndrome	Polymicrogyria, Abnormality of neuronal migration, Ataxia, Gait disturbance	ORPHA:475
Trisomy 9P	Abnormal pupil morphology	ORPHA:236
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Man1B1-Cdg	Periventricular heterotopia, Polyphagia, Broad-based gait	ORPHA:397941
Schinzel-Giedion Midface Retraction Syndrome	Tibial bowing, Ureteral stenosis, Short distal phalanx of finger, Small scrotum, Increased densit...	OMIM:269150
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Distal Deletion 6P	Abnormal anterior chamber morphology, Corneal opacity, Hypoplasia of the iris, Posterior embryoto...	ORPHA:96125
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia	OMIM:214150
Bresek Syndrome	Optic nerve hypoplasia, Microphthalmia	ORPHA:85284
Neurooculocardiogenitourinary Syndrome	Microphthalmia	OMIM:618652
16P13.11 Microdeletion Syndrome	Gastroesophageal reflux, Compulsive behaviors, Abnormality of neuronal migration, Self-injurious ...	ORPHA:261236
Edinburgh Malformation Syndrome	Abnormality of neuronal migration	ORPHA:1895
Gm2 Gangliosidosis, Ab Variant	Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment	ORPHA:309246
Rodrigues Blindness	Microphthalmia	OMIM:268320
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia	OMIM:610756
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Difficulty walking, Cognitive impairment, Inappropriate laughter, Ataxia, Periventricular heterot...	OMIM:618476
Walker-Warburg Syndrome	Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen...	ORPHA:899
Trisomy 13	Microphthalmia, Aplasia/Hypoplasia of the iris, Anophthalmia	ORPHA:3378
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia	ORPHA:3191
Neurocutaneous Melanocytosis	Abnormality of neuronal migration, EEG abnormality	ORPHA:2481
Orofaciodigital Syndrome Xvi	Inability to walk, Ataxia, Gray matter heterotopia	OMIM:617563
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Familial Dysautonomia	Abnormal pupil morphology, Heterochromia iridis, Corneal opacity, Corneal erosion	ORPHA:1764
Poretti-Boltshauser Syndrome	Gray matter heterotopia	OMIM:615960
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia	OMIM:301108
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Polymicrogyria, Type II lissencephaly, Agyria, Gray matter heterotopia, Subcortical heterotopia, ...	OMIM:614643
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration, Cognitive impairment	ORPHA:2063
Duane Retraction Syndrome	Aniridia, Microcornea, Hypoplastic iris stroma, Chorioretinal coloboma, Central heterochromia, Ab...	ORPHA:233
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Pyruvate Dehydrogenase E1-Beta Deficiency	Periventricular heterotopia, Ataxia, Pachygyria	ORPHA:255138
Joubert Syndrome 37	Microphthalmia	OMIM:619185
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Hydrolethalus	Microphthalmia, Anophthalmia	ORPHA:2189
Pelvis-Shoulder Dysplasia	Microphthalmia	OMIM:169550
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma	OMIM:618914
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria	ORPHA:289483
Microphthalmia/Coloboma 12	Microphthalmia, Optic nerve aplasia	OMIM:120200
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Monosomy 18P	Microphthalmia	ORPHA:1598
Periventricular Nodular Heterotopia	Periventricular heterotopia, Gastroesophageal reflux	ORPHA:98892
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Congenital Muscular Dystrophy With Cerebellar Involvement	Polymicrogyria, Type II lissencephaly, Gray matter heterotopia	ORPHA:370959
Temtamy Syndrome	Microphthalmia	OMIM:218340
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia	ORPHA:77298
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia	OMIM:618494
Sandestig-Stefanova Syndrome	Microphthalmia	OMIM:618804
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
9Q21.13 Microdeletion Syndrome	Difficulty walking, Gray matter heterotopia	ORPHA:531151
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Desmosterolosis	Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen...	ORPHA:35107
Moebius Syndrome	Microphthalmia	OMIM:157900
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum	OMIM:140850
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Cutis Marmorata Telangiectatica Congenita	Leukocoria	OMIM:219250
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Attention deficit hyperactivity disorder, Self-injurious behavior, Periventricular heterotopia, I...	OMIM:618929
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia, Bilateral microphthalmos	OMIM:607597
Coffin-Lowry Syndrome	Self-injurious behavior, Abnormality of neuronal migration, Gait disturbance	ORPHA:192
Multiple Acyl-Coa Dehydrogenase Deficiency	Vomiting, Inability to walk, Gray matter heterotopia, Dysphagia	ORPHA:26791
Gracile Bone Dysplasia	Microphthalmia, Aniridia	OMIM:602361
Baraitser-Winter Syndrome 1	Microphthalmia	OMIM:243310
Thanatophoric Dysplasia	Gray matter heterotopia	ORPHA:2655
Rere-Related Neurodevelopmental Syndrome	Microphthalmia	ORPHA:494344
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microphthalmia	OMIM:617914
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Astigmatism, Ectopia pupillae	OMIM:618727
6Q Terminal Deletion Syndrome	Hypsarrhythmia, Polymicrogyria, Gray matter heterotopia, Gait ataxia, Abnormality of neuronal mig...	ORPHA:75857
Oculodentodigital Dysplasia, Autosomal Recessive	Cataract, Microcornea, Persistent pupillary membrane	OMIM:257850
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia	ORPHA:228390
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Meckel Syndrome, Type 2	Microphthalmia	OMIM:603194
Vici Syndrome	EEG abnormality, Gray matter heterotopia	ORPHA:1493
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen...	ORPHA:2211
Joubert Syndrome With Oculorenal Defect	Abnormality of neuronal migration, Ataxia	ORPHA:2318
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Buphthalmos, Peters anomaly, Persistent pupillary membrane	OMIM:613150
Neuromuscular Oculoauditory Syndrome	Decreased nerve conduction velocity, Decreased amplitude of sensory action potentials, Periventri...	OMIM:618733
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Microphthalmia	OMIM:609053
Ulbright-Hodes Syndrome	Hypoplasia of the radius, Clitoral hypertrophy, Enlarged labia minora, Fibular aplasia, Polycysti...	ORPHA:3404
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Diarrhea, Polymicrogyria, Abnormality of neuronal migration, Vomiting	OMIM:608836
3C Syndrome	Abnormality of neuronal migration, Gastroesophageal reflux	ORPHA:7
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Garg-Mishra Progeroid Syndrome	Microphthalmia	OMIM:620601
Congenital Fibrinogen Deficiency	Microphthalmia	ORPHA:335
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Frontofacionasal Dysplasia	Microphthalmia	ORPHA:1791
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Attention deficit hyperactivity disorder, Periventricular heterotopia	OMIM:618870
Congenital Disorder Of Deglycosylation 2	Polymicrogyria, Gray matter heterotopia, Dysphagia	OMIM:619775
Trichothiodystrophy 3, Photosensitive	Microphthalmia	OMIM:616395
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Nijmegen Breakage Syndrome	Chronic diarrhea, Abnormality of chromosome stability, Abnormality of neuronal migration, Attenti...	ORPHA:647
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Gastroesophageal reflux, Gait disturbance, Vomiting, Abnormality of neuronal migration, Motor ste...	ORPHA:464311
Warburg Micro Syndrome 4	Microphthalmia	OMIM:615663
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of neuronal migration	ORPHA:2518
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Neu-Laxova Syndrome	Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen...	ORPHA:2671
Van Maldergem Syndrome 1	Gray matter heterotopia, Simplified gyral pattern, Pachygyria, Subcortical band heterotopia, Peri...	OMIM:601390
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos	ORPHA:369891
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Peroxisome Biogenesis Disorder 1A (Zellweger)	Polymicrogyria, Gray matter heterotopia, Loss of ambulation, Unsteady gait, Dysphagia	OMIM:214100
Meckel Syndrome, Type 4	Microphthalmia	OMIM:611134
Refsum Disease	Microphthalmia	ORPHA:773
Pseudo-Torch Syndrome 2	Polymicrogyria, Gray matter heterotopia	OMIM:617397
Joubert Syndrome With Hepatic Defect	Abnormality of neuronal migration, Ataxia, Gait disturbance	ORPHA:1454
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Warburg Micro Syndrome 3	Microphthalmia	OMIM:614222
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Marden-Walker Syndrome	Microphthalmia	OMIM:248700
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Supernumerary nipple, Cryptorchidism, Micropenis, Anisocoria	OMIM:618653
Pierson Syndrome	Posterior lenticonus, Hypoplasia of the ciliary body, Microcoria, Hypoplasia of the iris, Rieger ...	OMIM:609049
Knobloch Syndrome 1	Iris transillumination defect, Band keratopathy, Chorioretinal atrophy, Persistent pupillary memb...	OMIM:267750
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Lens subluxation, Corneal opacity, Ectopia pupillae	ORPHA:85167
Norrie Disease	Abnormal chorioretinal morphology, Aplasia/Hypoplasia of the lens, Corneal opacity, Hypoplasia of...	ORPHA:649
Nephronophthisis 11	Anisocoria	OMIM:613550
Oculocerebrorenal Syndrome Of Lowe	Azoospermia, Corneal opacity, Cryptorchidism, Cataract, Buphthalmos, Chorioretinal dysplasia, Abn...	ORPHA:534
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Simplified gyral pattern, Lissencephaly, Gray matter heterotopia	OMIM:615219
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Joubert Syndrome 14	Microphthalmia	OMIM:614424
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
3Q29 Microduplication Syndrome	Microphthalmia, Aniridia	ORPHA:251038
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
Orofaciodigital Syndrome Type 6	Abnormality of neuronal migration, Ataxia, Gait disturbance	ORPHA:2754
Alkuraya-Kucinskas Syndrome	Lissencephaly, Gray matter heterotopia	OMIM:617822
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia	OMIM:241410
Carnitine Palmitoyltransferase Ii Deficiency	Polymicrogyria, Abnormality of neuronal migration, Pachygyria	ORPHA:157
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia	ORPHA:3301
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Cerebrofacioarticular Syndrome	Self-injurious behavior, Ataxia, Gray matter heterotopia	ORPHA:314679
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Lens subluxation, Corneal opacity, Ectopia pupillae	OMIM:608940
Trichinellosis	Conjunctival hyperemia, Abnormal uvea morphology, Anisocoria, Conjunctivitis	ORPHA:863
Achalasia-Addisonianism-Alacrima Syndrome	Anisocoria	OMIM:231550
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	OMIM:616449
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia	OMIM:618571
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia	ORPHA:1352
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia	ORPHA:2505
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia	ORPHA:2728
Encephalocraniocutaneous Lipomatosis	Microphthalmia, Hypoplasia of the iris	OMIM:613001
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Hypsarrhythmia, Frontal polymicrogyria, Gray matter heterotopia, Pachygyria	OMIM:620024
Peroxisome Biogenesis Disorder 13A (Zellweger)	Polymicrogyria, Gray matter heterotopia	OMIM:614887
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Decreased response to growth hormone stimulation test, Hypoparathyroidism, Ectopia pupillae, Apla...	OMIM:618223
Galloway-Mowat Syndrome 1	Abnormality of neuronal migration, Ataxia, Pachygyria	OMIM:251300
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Micro Syndrome	Microphthalmia	ORPHA:2510
Martsolf Syndrome 1	Microphthalmia	OMIM:212720
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Oculo-Palato-Cerebral Syndrome	Cataract, Leukocoria	ORPHA:2714
Thanatophoric Dysplasia, Type I	Gray matter heterotopia	OMIM:187600
Warburg Micro Syndrome 2	Microphthalmia	OMIM:614225
Scalp-Ear-Nipple Syndrome	Breast aplasia, Anisocoria, Developmental cataract, Cataract, Iris coloboma	OMIM:181270
Adams-Oliver Syndrome	Microphthalmia	ORPHA:974
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Polymicrogyria, Abnormality of neuronal migration, Pachygyria	ORPHA:228308
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia	OMIM:618797
Thanatophoric Dysplasia Type 1	Gray matter heterotopia	ORPHA:1860
Koolen-De Vries Syndrome	Hyperactivity, Gray matter heterotopia, Impulsivity	OMIM:610443
Chromosome 13Q33-Q34 Deletion Syndrome	Microphthalmia	OMIM:619148
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Gray matter heterotopia	OMIM:620475
Kapur-Toriello Syndrome	Microphthalmia	OMIM:244300
Miller-Dieker Lissencephaly Syndrome	Lissencephaly, Agyria, Gray matter heterotopia, Pachygyria	OMIM:247200
Charcot-Marie-Tooth Disease Type 4C	Abnormal pupillary light reflex, Anisocoria	ORPHA:99949
Pituitary Adenoma 4, Acth-Secreting	Emotional lability, Abnormal fear-induced behavior	OMIM:219090
Bohring-Opitz Syndrome	Gray matter heterotopia, Gastroesophageal reflux	OMIM:605039
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Constipation, Bruxism, Gray matter heterotopia, Gastroesophageal reflux	ORPHA:453499
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia	OMIM:608624
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Anisocoria	OMIM:615510
Retinoblastoma	Hypopyon, Heterochromia iridis, Leukocoria, Pineoblastoma, Uveitis	ORPHA:790
Van Maldergem Syndrome 2	Subcortical band heterotopia, Periventricular nodular heterotopia, Gray matter heterotopia	OMIM:615546
Trichothiodystrophy 1, Photosensitive	Microphthalmia	OMIM:601675
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Frontonasal Dysplasia 2	Microphthalmia	OMIM:613451
Opitz-Kaveggia Syndrome	Constipation, Attention deficit hyperactivity disorder, Gray matter heterotopia	OMIM:305450
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Polymicrogyria, Simplified gyral pattern, Pachygyria, Self-injurious behavior, Motor stereotypy, ...	ORPHA:468631
Microphthalmia, Lenz Type	Microphthalmia	ORPHA:568
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Oculoauricular Syndrome	Microphakia, Phthisis bulbi, Microphthalmia, Macular hypoplasia	OMIM:612109
Frontorhiny	Microphthalmia	ORPHA:391474
Revesz Syndrome	Megalocornea, Leukocoria	OMIM:268130
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia	OMIM:302960
Holoprosencephaly	Constipation, Abnormality of neuronal migration, Gastroesophageal reflux, Cognitive impairment	ORPHA:2162
Cutis Marmorata Telangiectatica Congenita	Displacement of the urethral meatus, Leukocoria	ORPHA:1556
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Phace Association	Optic nerve hypoplasia, Microphthalmia	OMIM:606519
Microphthalmia, Syndromic 3	Optic nerve hypoplasia, Microphthalmia, Optic nerve aplasia, Anophthalmia	OMIM:206900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia	OMIM:253800
3Q29 Microdeletion Syndrome	Microphthalmia	ORPHA:65286
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia	OMIM:614230
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
Joubert Syndrome 2	Microphthalmia	OMIM:608091
Cohen Syndrome	Microphthalmia	ORPHA:193
Mosaic Trisomy 1	Microphthalmia	ORPHA:1692
16Q24.3 Microdeletion Syndrome	Periventricular heterotopia, Dysphagia	ORPHA:261250
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Abnormal fear-induced behavior, Aggressive behavior, Gastroesophageal reflux, Emotional lability,...	ORPHA:353281
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Mosaic Trisomy 9	Microphthalmia	ORPHA:99776
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal neovascularization, Astigmatism, Polycoria, Microcornea, Corneal opacity, Hypoplasia of t...	OMIM:175780
Duane-Radial Ray Syndrome	Microphthalmia, Optic disc hypoplasia	OMIM:607323
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	ORPHA:464738
Retinoblastoma	Pinealoma, Leukocoria	OMIM:180200
Fanconi Anemia, Complementation Group N	Microphthalmia	OMIM:610832
Galloway-Mowat Syndrome 3	Microphthalmia	OMIM:617729
Stromme Syndrome	Optic nerve hypoplasia, Microphthalmia	OMIM:243605
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Inability to walk, Episodic vomiting, Gastroparesis, Gray matter heterotopia, Constipation, Bruxism	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Inability to walk, Episodic vomiting, Gastroparesis, Gray matter heterotopia, Constipation, Bruxism	ORPHA:352665
Coffin-Lowry Syndrome	Bifid sternum, Hyperextensibility of the finger joints, Narrow iliac wing, Short metacarpal, Uter...	OMIM:303600
Vacterl With Hydrocephalus	Microphthalmia, Anophthalmia	ORPHA:3412
Pseudotrisomy 13 Syndrome	Microphthalmia	OMIM:264480
Craniorachischisis	Bifid sternum	ORPHA:63260
Fanconi Anemia, Complementation Group F	Microphthalmia	OMIM:603467
Meckel Syndrome 14	Microphthalmia	OMIM:619879
Fryns Syndrome	Microphthalmia	ORPHA:2059
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Papillorenal Syndrome	Microphthalmia	OMIM:120330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic nerve hypoplasia, Microphthalmia, Buphthalmos	OMIM:236670
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Focal Dermal Hypoplasia	Microphthalmia, Hypoplasia of the iris	ORPHA:2092
Mowat-Wilson Syndrome	Hypospadias, Microcornea, Bifid scrotum, Chorioretinal coloboma, Ectopia pupillae, Cataract, Cryp...	OMIM:235730
Premature Aging Syndrome, Penttinen Type	Microphthalmia	OMIM:601812
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Wolf-Hirschhorn Syndrome	Hypospadias, Aplasia of the uterus, Precocious puberty, Rieger anomaly, Ectopia pupillae, Cryptor...	OMIM:194190
2Q31.1 Microdeletion Syndrome	Microphthalmia	ORPHA:251014
Superficial Siderosis	Anisocoria	ORPHA:247245
1Q21.1 Microdeletion Syndrome	Microphthalmia	ORPHA:250989
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos	ORPHA:2839
Hallermann-Streiff Syndrome	Microphthalmia	OMIM:234100
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Gray matter heterotopia	OMIM:620654
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos	OMIM:618874
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Holoprosencephaly 14	EEG abnormality, Periventricular heterotopia, Gray matter heterotopia	OMIM:619895
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
Curry-Jones Syndrome	Microphthalmia	OMIM:601707
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia	ORPHA:364577
Atelis Syndrome 2	Microphthalmia	OMIM:620185
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia	OMIM:219730
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Astigmatism, Hypospadias, Microcornea, Axenfeld anomaly, Iris atrophy, Bifid scrotum, Hydrocele t...	ORPHA:261552
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Hypospadias, Phimosis, Anisocoria, Unilate...	OMIM:613406
Cousin Syndrome	Microphthalmia	OMIM:260660
Dubowitz Syndrome	Microphthalmia, Hypoplasia of the iris	OMIM:223370
Incontinentia Pigmenti	Microphthalmia, Hypoplasia of the fovea	OMIM:308300
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Incontinentia Pigmenti	Microphthalmia	ORPHA:464
Trisomy 18	Microphthalmia	ORPHA:3380
Jacobsen Syndrome	Microphthalmia, Macular hypoplasia	OMIM:147791
Cat Eye Syndrome	Microphthalmia	OMIM:115470
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia	OMIM:616300
Mycophenolate Mofetil Embryopathy	Microphthalmia	ORPHA:268249
Arima Syndrome	Polydipsia, Ataxia, Gray matter heterotopia	OMIM:243910
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Fanconi Anemia, Complementation Group C	Microphthalmia	OMIM:227645
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Monosomy 9Q22.3	Microphthalmia	ORPHA:77301
Vici Syndrome	Gray matter heterotopia, Dysphagia	OMIM:242840
Pallister-Hall Syndrome	Microphthalmia	OMIM:146510
Acro-Renal-Ocular Syndrome	Microphthalmia, Optic disc hypoplasia	ORPHA:959
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Basal Cell Nevus Syndrome 1	Microphthalmia	OMIM:109400
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Microphthalmia	ORPHA:508498
Histiocytoid Cardiomyopathy	Microphthalmia, Congenital aphakia	ORPHA:137675
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Anophthalmia	ORPHA:2538
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Microphthalmia, Syndromic 9	Bilateral microphthalmos, Anophthalmia	OMIM:601186
Steinfeld Syndrome	Microphthalmia	OMIM:184705
Genitourinary And/Or Brain Malformation Syndrome	Attention deficit hyperactivity disorder, Polymicrogyria, Gray matter heterotopia	OMIM:618820
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal fear-induced behavior, Aggressive behavior, Gastroesophageal reflux, Emotional lability,...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal fear-induced behavior, Aggressive behavior, Gastroesophageal reflux, Emotional lability,...	ORPHA:353277
Hallermann-Streiff Syndrome	Microphthalmia	ORPHA:2108
Fanconi Anemia, Complementation Group L	Microphthalmia	OMIM:614083
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Abnormal cortical gyration, Gastroesophageal reflux, Polymicrogyria, Microlissencephaly, Gray mat...	OMIM:210710
Fraser Syndrome 2	Microphthalmia	OMIM:617666
Rothmund-Thomson Syndrome, Type 2	Microphthalmia	OMIM:268400
Fanconi Anemia, Complementation Group D2	Microphthalmia	OMIM:227646
Aicardi Syndrome	Polymicrogyria, Gray matter heterotopia, Pachygyria	OMIM:304050
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia	ORPHA:1052
Meckel Syndrome	Microphthalmia, Aplasia/Hypoplasia of the iris, Anophthalmia	ORPHA:564
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia	ORPHA:2526
Cockayne Syndrome B	Microphthalmia, Hypoplasia of the iris	OMIM:133540
Phace Syndrome	Optic nerve hypoplasia, Microphthalmia, Lens coloboma	ORPHA:42775
Bartsocas-Papas Syndrome 1	Microphthalmia	OMIM:263650
Orofaciodigital Syndrome I	Abnormal cortical gyration, Gray matter heterotopia	OMIM:311200
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia	ORPHA:2166
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia	OMIM:616975
Traboulsi Syndrome	Microphthalmia	OMIM:601552
Treacher-Collins Syndrome	Microphthalmia	ORPHA:861
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Aicardi Syndrome	Microphthalmia	ORPHA:50
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia	ORPHA:1106
Trichothiodystrophy	Bilateral microphthalmos	ORPHA:33364
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia	OMIM:620005
Cockayne Syndrome Type 3	Microphthalmia	ORPHA:90324
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia	OMIM:309801
Holoprosencephaly 7	Bilateral microphthalmos, Microphthalmia	OMIM:610828
Osteoporosis-Pseudoglioma Syndrome	Phthisis bulbi, Microphthalmia	OMIM:259770
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia	OMIM:609945
Fanconi Anemia	Microphthalmia, Aplasia/Hypoplasia of the iris	ORPHA:84
Mend Syndrome	Microphthalmia	ORPHA:401973
Monosomy 9P	Microphthalmia	ORPHA:261112
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia, Anophthalmia	ORPHA:2556
Vascular Ehlers-Danlos Syndrome	Hypospadias, Uterine rupture, Keratoconus, Uterine prolapse, Cystocele, Cryptorchidism, Abnormal ...	ORPHA:286
Myhre Syndrome	Microphthalmia	OMIM:139210
Cockayne Syndrome	Microphthalmia	ORPHA:191
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia	OMIM:276300
Smith-Lemli-Opitz Syndrome	Gastroesophageal reflux, Hyperactivity, Vomiting, Constipation, Periventricular heterotopia, Self...	OMIM:270400
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia	ORPHA:3186
Fryns Syndrome	Microphthalmia	OMIM:229850
22Q11.2 Deletion Syndrome	Microphthalmia	ORPHA:567
Roberts Syndrome	Microphthalmia	ORPHA:3103
Microphthalmia, Syndromic 2	Phthisis bulbi, Microphthalmia, Anophthalmia	OMIM:300166
Proboscis Lateralis	Optic nerve hypoplasia, Microphthalmia, Anophthalmia	ORPHA:141099
Sponastrime Dysplasia	Hypospadias, Congenital aphakia, Microcoria, Precocious puberty, Cataract	ORPHA:93357
Holoprosencephaly 9	Optic nerve hypoplasia, Microphthalmia, Anophthalmia	OMIM:610829
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia	OMIM:616734
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Degcags Syndrome	Microphthalmia	OMIM:619488
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia	OMIM:620186
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Frontofacionasal Dysplasia	Microphthalmia	OMIM:229400
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia	OMIM:608670
Meckel Syndrome, Type 1	Microphthalmia	OMIM:249000
Fontaine Progeroid Syndrome	Periventricular heterotopia, Gray matter heterotopia, Gastroesophageal reflux	OMIM:612289
Acromelic Frontonasal Dysostosis	Periventricular nodular heterotopia, Gray matter heterotopia	OMIM:603671
Charge Syndrome	Microphthalmia, Anophthalmia	ORPHA:138
Pagod Syndrome	Abnormality of neuronal migration	ORPHA:991
Yunis-Varon Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:3472
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia	ORPHA:306542
Focal Dermal Hypoplasia	Microphthalmia, Aniridia, Anophthalmia	OMIM:305600
Chromosome 13Q14 Deletion Syndrome	Microphthalmia	OMIM:613884
Renpenning Syndrome 1	Microphthalmia	OMIM:309500
Tetraamelia Syndrome 1	Microphthalmia	OMIM:273395
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia	OMIM:612474
Neuroocular Syndrome	Microphthalmia, Hypoplasia of the fovea, Lens coloboma	OMIM:619539
Adams-Oliver Syndrome 1	Microphthalmia	OMIM:100300
Mowat-Wilson Syndrome	EEG with spike-wave complexes, Inability to walk, Broad-based gait, Bruxism, Polymicrogyria, Bowe...	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Inability to walk, Episodic vomiting, Broad-based gait, Bruxism, Polymicrogyria, Bowel incontinen...	ORPHA:261537
Fraser Syndrome	Microphthalmia, Anophthalmia	ORPHA:2052
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos	ORPHA:93325
Neu-Laxova Syndrome 1	Microphthalmia	OMIM:256520
Charge Syndrome	Microphthalmia, Unilateral microphthalmos, Anophthalmia	OMIM:214800
Lowe Oculocerebrorenal Syndrome	Microphthalmia	OMIM:309000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Type II lissencephaly, Gray matter heterotopia	OMIM:615287
Holoprosencephaly 1	Microphthalmia	OMIM:236100
Fraser Syndrome 1	Bilateral microphthalmos, Anophthalmia	OMIM:219000
Orofaciodigital Syndrome Xiv	Polymicrogyria, Periventricular heterotopia, Simplified gyral pattern	OMIM:615948
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia	OMIM:607932
Pallister-Hall Syndrome	Microphthalmia	ORPHA:672
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
8Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Bilateral microphthalmos	ORPHA:508488
Hydrolethalus Syndrome 1	Microphthalmia	OMIM:236680
Branchiooculofacial Syndrome	Microphthalmia, Anophthalmia	OMIM:113620
Proteus Syndrome	Gray matter heterotopia	ORPHA:744
Genitopatellar Syndrome	Periventricular heterotopia, Dysphagia, Pachygyria	OMIM:606170
Holoprosencephaly 2	Microphthalmia	OMIM:157170
Townes-Brocks Syndrome	Microphthalmia	ORPHA:857
Orofaciodigital Syndrome Type 14	Periventricular heterotopia	ORPHA:434179
Roberts-Sc Phocomelia Syndrome	Microphthalmia	OMIM:268300
Craniofacial Microsomia 1	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

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
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

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

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

Subscribe to newsletter