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Gene: Dync1li1 MGI:2135610

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Gene Summary

Name:
dynein cytoplasmic 1 light intermediate chain 1
Synonyms:
LIC-1,  Dnclic1,  Dlic1,  1110053F02Rik

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IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal liver morphology Dync1li1em1(IMPC)Tcp HET Late adult 0.00
abnormal testis morphology Dync1li1em1(IMPC)Tcp HET Late adult 0.00
abnormal seminal vesicle morphology Dync1li1em1(IMPC)Tcp HET Late adult 0.00
small kidney Dync1li1em1(IMPC)Tcp HET Late adult 0.00
enlarged lymph nodes Dync1li1em1(IMPC)Tcp HET Early adult 0.00
abnormal lung morphology Dync1li1em1(IMPC)Tcp HET Early adult 0.00
abnormal skin morphology Dync1li1em1(IMPC)Tcp HET Late adult 0.00
increased red blood cell distribution width Dync1li1em1(IMPC)Tcp HET   Early adult 3.80×10-05
enlarged lymph nodes Dync1li1em1(IMPC)Tcp HET Late adult 0.00
cataract Dync1li1em1(IMPC)Tcp HET Late adult 5.74×10-06
abnormal seminal vesicle morphology Dync1li1em1(IMPC)Tcp HOM Early adult 0.00
microphthalmia Dync1li1em1(IMPC)Tcp HOM E15.5 0.00
abnormal sternum morphology Dync1li1em1(IMPC)Tcp HET Late adult 0.00
preweaning lethality, incomplete penetrance Dync1li1em1(IMPC)Tcp HOM   Early adult 0.00
small heart Dync1li1em1(IMPC)Tcp HET Late adult 0.00
mydriasis Dync1li1em1(IMPC)Tcp HOM Early adult 9.72×10-06
enlarged prostate gland Dync1li1em1(IMPC)Tcp HET Late 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.

Eye Morphology

Images Slit Lamp

25 Images

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Histopathology

Images

13 Images

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X-ray

XRay Images Skull Lateral Orientation

12 Images

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Eye Morphology

Images Ophthalmoscopy

58 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

19 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

12 Images

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Histopathology

Images

9 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

3 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 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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Gross Pathology and Tissue Collection

Images

13 Images

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Eye Morphology

Images Slit Lamp

3 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

2 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A 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.

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 Similarity of
phenotypes		 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
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... ORPHA:766
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... OMIM:615631
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Short thumb, Cataract OMIM:274205
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Nodular Neuronal Heterotopia
EEG abnormality, Abnormality of neuronal migration ORPHA:2149
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Hepatosplenomegaly, Lym... OMIM:619126
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Isolated Lissencephaly Type 1 Without Known Genetic Defects
EEG with changes in voltage, Hypsarrhythmia, Gray matter heterotopia, Pachygyria, Agyria ORPHA:1084
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria OMIM:615411
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Sub-Cortical Nodular Heterotopia
Subcortical heterotopia, Abnormality of neuronal migration, EEG with focal slow activity, EEG wit... ORPHA:101029
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Gombo Syndrome
Microphthalmia OMIM:233270
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... OMIM:616860
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Impulsivity, Aggressive behavior, Polymicrogyria, Simplified gyral pattern, Abnorm... OMIM:604317
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Abnormal repetitive mannerisms, Abnormality of neuronal migration, Attention deficit hype... OMIM:618709
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Lissencephaly 1
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria OMIM:607432
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy, Cataract ORPHA:79281
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Uveal Melanoma
Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis ORPHA:39044
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Symmetrical Thalamic Calcifications
EEG abnormality, Ataxia, Abnormality of neuronal migration, Cognitive impairment ORPHA:1314
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia, Hypsarrhythmia OMIM:608097
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, S... OMIM:224120
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Nanophthalmos 4
Microphthalmia OMIM:615972
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Lissencephaly 3
Ataxia, Periventricular laminar heterotopia, Pachygyria, Gray matter heterotopia, Lissencephaly, ... OMIM:611603
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Lissencephaly, X-Linked, 1
Ataxia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria OMIM:300067
Nanophthalmos
Microphthalmia ORPHA:35612
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf... ORPHA:444463
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
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, Erythrocyte inclu... OMIM:603902
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Inability to walk, Periventricular nodular heterotopia OMIM:618572
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Encopresis, Depression, Irritability, Tics... ORPHA:66624
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Hemimegalencephaly
EEG with polyspike wave complexes, Interictal EEG abnormality, EEG with burst suppression, Gray m... ORPHA:99802
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... OMIM:300908
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Hypsarrhythmia OMIM:615544
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, EEG with generalized polyspikes, Aggressive behavior, Abnormality of neuro... ORPHA:163681
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, Cataract, 3-Methylglutaconic aciduria OMIM:619813
Maternal Hyperthermia-Induced Birth Defects
EEG abnormality, Abnormality of neuronal migration, Cognitive impairment ORPHA:2216
Intestinal Botulism
Mydriasis ORPHA:178481
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Cataract, Hypospadias, Aplasia/Hypoplasia of the lens, Cryptorchidism, Genu ... ORPHA:1381
1Q21.1 Microduplication Syndrome
Cataract, Hypospadias, Cryptorchidism, Hip dislocation, Hip dysplasia, Tetralogy of Fallot ORPHA:250994
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Cataract, Ventricular septal defect, Elevated circulating aspartate aminotransferas... OMIM:614876
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... ORPHA:71275
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Iatrogenic Botulism
Mydriasis ORPHA:254509
Wound Botulism
Mydriasis ORPHA:178475
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis ORPHA:247815
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Focal EEG discharges with secondary generalization, Anorexia, Ag... ORPHA:3077
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... OMIM:615513
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... ORPHA:98870
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Microcoria, Congenital
Microcoria, Miosis, Hypoplasia of the iris dilator muscle OMIM:156600
Inhalational Botulism
Mydriasis ORPHA:254504
Orotic Aciduria
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... OMIM:258900
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:619220
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph... OMIM:613101
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cryptorchidism, Short metacarpal, Short thumb, Cataract ORPHA:2489
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Laurence-Moon Syndrome
Finger syndactyly, Hypoplasia of penis, Cataract, Renal insufficiency, Cryptorchidism, Congenital... ORPHA:2377
Galactosemia Ii
Cataract, Galactosuria, Prolonged neonatal jaundice OMIM:230200
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Recurrent sinopulmonary infections, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimm... OMIM:619846
Botulism
Mydriasis ORPHA:1267
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... ORPHA:95613
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Foodborne Botulism
Mydriasis ORPHA:228371
Myopia 27, Autosomal Dominant
Increased axial length of the globe OMIM:618827
Immunodeficiency 76
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphop... OMIM:619164
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia OMIM:616959
Infant Botulism
Keratoconjunctivitis sicca, Mydriasis ORPHA:178478
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center, ... OMIM:608184
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Gray matter heterotopia, Lissencephaly, Abnormal temper tantrums, Att... ORPHA:300573
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Cataract, Hypogonadism, Decreased testicular size ORPHA:1875
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Cataract, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Cystic renal d... OMIM:613730
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Cataract, Ventricular septal defect, Cryptorchidism, Abnormal rib morphology... ORPHA:2772
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Periventricular nodular heterotopia, Abnormal repetitive mannerisms, Attention deficit hyperactiv... OMIM:620065
Miller Fisher Syndrome
Anisocoria, Mydriasis ORPHA:98919
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Chudley-Mccullough Syndrome
Gray matter heterotopia, Polymicrogyria OMIM:604213
Megalocornea
Iridodonesis, Cataract, Miosis, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumi... OMIM:309300
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Galactose Epimerase Deficiency
Hepatomegaly, Cataract, Splenomegaly, Jaundice, Aminoaciduria ORPHA:79238
Kimura Disease
Eosinophilia, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Mmep Syndrome
Microphthalmia ORPHA:3434
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Hemolytic anemia, Reticulocytosis, Anisocytosis, Atelectasis, L... OMIM:618278
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Recurr... OMIM:602450
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
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
Periventricular heterotopia, Inability to walk, Unsteady gait, Simplified gyral pattern, Truncal ... OMIM:618273
Multisystemic Smooth Muscle Dysfunction Syndrome
Cryptorchidism, Mydriasis OMIM:613834
Serotonin Syndrome
Mydriasis ORPHA:43116
Senior-Loken Syndrome
Cataract, Premature ovarian insufficiency, Congenital hepatic fibrosis, Chronic kidney disease, S... ORPHA:3156
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Congenital Muscular Dystrophy Without Intellectual Disability
Gray matter heterotopia, Pachygyria, Difficulty walking, Tip-toe gait ORPHA:370980
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Woolly Hair Nevus
Precocious puberty, Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
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
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
Subependymal Nodular Heterotopia
Interictal EEG abnormality, Abnormality of neuronal migration, Gray matter heterotopia, EEG with ... ORPHA:101030
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Martsolf Syndrome 2
Cataract, Overlapping toe, Hypogonadotropic hypogonadism, Camptodactyly of finger, Developmental ... OMIM:619420
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity, External genital hypoplasia, Tapered finger, Cryptorchidism, Abnormal ... ORPHA:1867
Combined Oxidative Phosphorylation Deficiency 47
Elevated hepatic transaminase, Hepatomegaly, Cataract, Toe syndactyly, Cryptorchidism, Cone-shape... OMIM:618958
Hypogonadism-Cataract Syndrome
Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Mal... OMIM:240950
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Nausea, Abnormal fear-induced behavior, Diarrhea, Depression, Constipati... ORPHA:100924
Arachnoid Cyst
Mydriasis ORPHA:2356
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis OMIM:604273
Facial Spasm
Anisocoria OMIM:134300
Glutathionuria
Gray matter heterotopia, Dysdiadochokinesis, Constipation OMIM:231950
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia, Cognitive impairment, Dysphagia OMIM:617008
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Pneumonia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splen... OMIM:613179
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Wagr Syndrome
Cataract, Cryptorchidism, Aplasia/Hypoplasia of the iris, Ambiguous genitalia, Displacement of th... ORPHA:893
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Gray matter heterotopia, Type II lissencephaly, Dysgyria ORPHA:352682
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Cataract, Proteinuria, Glomerulonephritis, Supernumerary nipple, Short iliac bones,... OMIM:614376
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Hec Syndrome
Abnormal pupil morphology, Vaginal hydrocele, Developmental cataract ORPHA:2119
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation ORPHA:54
Alternating Hemiplegia Of Childhood
Mydriasis ORPHA:2131
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... ORPHA:543
Band Heterotopia
Gray matter heterotopia, Subcortical band heterotopia, Polymicrogyria OMIM:600348
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Cataract, Broad hallux, Short metatarsal, Flattened epiphysis, Irregular ... ORPHA:1856
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Fragile X Syndrome
Hyperactivity, Periventricular heterotopia, Self-biting, Folate-dependent fragile site at Xq28, R... OMIM:300624
Galactosemia I
Hepatomegaly, Cataract, Hypergonadotropic hypogonadism, Elevated circulating aspartate aminotrans... OMIM:230400
Tetrasomy 18P
Achalasia, Gait disturbance, Abnormality of neuronal migration ORPHA:3307
Hemochromatosis, Type 4
Hepatomegaly, Cataract, Cardiomyopathy, Impotence, Cirrhosis, Hepatic steatosis OMIM:606069
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Intellectual Developmental Disorder, X-Linked 12
Gait disturbance, Abnormality of neuronal migration, Depression OMIM:300957
Aniridia-Absent Patella Syndrome
Aniridia, Cryptorchidism, Cataract, Aplasia/Hypoplasia of the patella ORPHA:1069
Bickerstaff Brainstem Encephalitis
Anisocoria, Mydriasis ORPHA:79138
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Triploidy
Finger syndactyly, Hypoplasia of penis, Cataract, Hypospadias, Hepatomegaly, Cryptorchidism, Abno... ORPHA:3376
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Cataract, Hypogonadism, External genital hypoplasia ORPHA:363741
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Abnormal lung morphology, Abnormality of the lymphatic system, Abnormal lymph node ... ORPHA:54251
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Metatarsus adductus, Cryptorchidism, Bru... OMIM:214110
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Weill-Marchesani Syndrome
Cataract, Ventricular septal defect, Ectopia lentis, Short thumb, Pulmonic stenosis, Aortic valve... ORPHA:3449
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe... OMIM:221900
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Mydriasis OMIM:619351
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Pachygyria, Simplified gyral pattern, Microlissencephaly, Lissenceph... OMIM:616212
Cocaine Intoxication
Mydriasis ORPHA:90068
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Cofs Syndrome
Microphthalmia ORPHA:1466
Lissencephaly Syndrome, Norman-Roberts Type
4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly, Dysphagia ORPHA:89844
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Pneumonia, Lymph node hypoplasia, Abnormally low T cell re... ORPHA:276
Lissencephaly 5
Gray matter heterotopia, Subcortical band heterotopia, Type II lissencephaly OMIM:615191
Periventricular Nodular Heterotopia 7
Ataxia, Hypsarrhythmia, Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria OMIM:617201
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morphology, Hepatos... OMIM:612840
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... ORPHA:263479
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Cataract, Hypogonadism OMIM:601794
Lymphedema-Hypoparathyroidism Syndrome
Hypoparathyroidism, Renal insufficiency, Cataract, Pulmonary lymphangiectasia, Mitral valve prola... OMIM:247410
Scorpion Envenomation
Miosis, Mydriasis ORPHA:466677
Alexander Disease
Microcoria OMIM:203450
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Finger syndactyly, Congenital hip dislocation, Ventricular septal defect, Hypospad... ORPHA:217346
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Cataract, Proximal placement of thumb, Sclerocornea, Cryptorchidism, Postaxial... ORPHA:139471
Craniotubular Dysplasia, Ikegawa Type
Mydriasis OMIM:619727
Phacoanaphylactic Uveitis
Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo... ORPHA:209959
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Axenfeld-Rieger Syndrome, Type 1
Rieger anomaly, Hypospadias, Decreased response to growth hormone stimulation test, Polycoria, Mi... OMIM:180500
Pierpont Syndrome
Microphthalmia ORPHA:487825
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Pachygyria, Abnormality of neuronal migration OMIM:608840
Proteus-Like Syndrome
Thymus hyperplasia, Cataract, Abnormal pupil morphology, Abnormality of the parathyroid gland, Po... ORPHA:2969
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Mietens Syndrome
Hypoplasia of the ulna, Cataract, Corneal opacity, Sclerocornea, Coxa valga, Metatarsus adductus,... ORPHA:2557
Short Syndrome
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... ORPHA:3163
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Coats Disease
Leukocoria OMIM:300216
Pierpont Syndrome
Microphthalmia OMIM:602342
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria ORPHA:2512
Radio-Tartaglia Syndrome
Ataxia, Impulsivity, Aggressive behavior, Gray matter heterotopia, Constipation, Gastroesophageal... OMIM:619312
Cataract 47
Microcornea, Cataract, Glycosuria OMIM:612018
Harrod Syndrome
Multicystic kidney dysplasia, Cataract, Arachnodactyly, Hypospadias, Cryptorchidism, Abnormal sho... ORPHA:2115
Neonatal Adrenoleukodystrophy
EEG abnormality, Abnormality of neuronal migration ORPHA:44
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia OMIM:615181
Warburg Micro Syndrome 2
Small scrotum, Overlapping toe, Cataract, Cryptorchidism, Developmental cataract, Hypoplastic lab... OMIM:614225
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Periventricular Nodular Heterotopia 1
Gray matter heterotopia, Abnormality of neuronal migration OMIM:300049
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Cataract, Missing ribs, Cryptorchidism, Abnormal rib morphology, Mi... ORPHA:3301
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Bronchiectasis, Bronchiolitis obliterans, Lymph node hypoplasia, T lymphocyt... OMIM:300755
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Meckel Syndrome
Ureteral duplication, Sclerocornea, Asplenia, Microcornea, Urethral atresia, Accessory spleen, Mu... ORPHA:564
Unilateral Ocular Duplication
Microcornea, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Familial Infantile Myoclonic Epilepsy
Interictal EEG abnormality, EEG with focal spike waves, Ataxia, Gait disturbance, Periventricular... ORPHA:352582
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Lissencephaly 8
Microphthalmia OMIM:617255
Congenital Toxoplasmosis
Microphthalmia ORPHA:858
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr... ORPHA:79277
Acalvaria
Abnormality of neuronal migration ORPHA:945
Axenfeld-Rieger Syndrome, Type 3
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... OMIM:602482
Joubert Syndrome 22
Microphthalmia OMIM:615665
Temtamy Syndrome
Microphthalmia ORPHA:1777
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Li-Ghorbani-Weisz-Hubshman Syndrome
Attention deficit hyperactivity disorder, Periventricular heterotopia OMIM:618974
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Bent Bone Dysplasia Syndrome 2
Hepatomegaly, Bowed humerus, Ulnar bowing, Hypoplastic acetabulae, Femoral bowing, Thin ribs, Sho... OMIM:620076
Meige Disease
Lymph node hypoplasia, Pleural effusion, Absence of lymph node germinal center ORPHA:90186
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
Periventricular Nodular Heterotopia 9
Broad-based gait, Gray matter heterotopia, Interictal epileptiform activity, Compulsive behaviors... OMIM:618918
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Galloway-Mowat Syndrome
EEG abnormality, Pachygyria, Abnormality of neuronal migration, Cognitive impairment ORPHA:2065
Myhre Syndrome
Abnormal penis morphology, Brachydactyly, Cataract, Hypospadias, External genital hypoplasia, Pre... ORPHA:2588
Bardet-Biedl Syndrome 1
Syndactyly, Cataract, Postaxial polydactyly, Postaxial hand polydactyly, Biliary tract abnormalit... OMIM:209900
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Renal insufficiency, Cataract, Mitral valve prolapse, Nephropathy, Short dist... ORPHA:1563
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finge... OMIM:274000
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ataxia, Periventricular heterotopia, Aggressive behavior, Irritability, Self-injurious behavior, ... OMIM:619833
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Transketolase Deficiency
Hepatomegaly, Increased level of ribose in urine, Cataract, Ventricular septal defect, Renal cyst... ORPHA:488618
Plague
Conjunctival hyperemia, Mydriasis ORPHA:707
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration, Cognitive impairment ORPHA:93274
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract OMIM:619649
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Bilateral Perisylvian Polymicrogyria
EEG with polyspike wave complexes, EEG with parietal focal spikes, EEG with frontal focal spikes,... ORPHA:98889
Seckel Syndrome 2
Microphthalmia OMIM:606744
Chiari Malformation Type Ii
Gray matter heterotopia, Ataxia, Dysphagia OMIM:207950
Codas Syndrome
Short humerus, Short metacarpal, Congenital hip dislocation, Ventricular septal defect, Metaphyse... OMIM:600373
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Alagille Syndrome 1
Multiple small medullary renal cysts, Microcornea, Atrial septal defect, Vesicoureteral reflux, A... OMIM:118450
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:290
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Congenital Fibrosis Of Extraocular Muscles
Cataract, Miosis, Hypogonadotropic hypogonadism, Anisocoria, Abnormal pupil shape, Slow pupillary... ORPHA:45358
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Hypospadias, Sclerocornea, Precocious puberty, Microcornea, Ectopia pupillae OMIM:615877
Alagille Syndrome
Keratoconus, Cryptorchidism, Abnormal pupil morphology, Corneal dystrophy ORPHA:52
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Walker-Warburg Syndrome
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... ORPHA:899
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Alg11-Cdg
Gray matter heterotopia, EEG with burst suppression, Episodic vomiting, Ataxia ORPHA:280071
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Joubert Syndrome
Polymicrogyria, Ataxia, Abnormality of neuronal migration, Gait disturbance ORPHA:475
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Man1B1-Cdg
Broad-based gait, Polyphagia, Periventricular heterotopia ORPHA:397941
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Charcot-Marie-Tooth Disease Type 1E
Anisocoria, Tonic pupil, Abnormal pupil morphology, Slow pupillary light response ORPHA:90658
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, 11 pairs of ribs, Elevated hepatic transaminase, Cataract, Portal hypertension,... OMIM:620005
16P13.11 Microdeletion Syndrome
Abnormality of neuronal migration, EEG abnormality, Self-injurious behavior, Gastroesophageal ref... ORPHA:261236
Bresek Syndrome
Microphthalmia, Optic nerve hypoplasia ORPHA:85284
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Edinburgh Malformation Syndrome
Abnormality of neuronal migration ORPHA:1895
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Periventricular heterotopia, Inappropriate laughter, Cognitive impairment, Difficulty wal... OMIM:618476
Duane Retraction Syndrome
Central heterochromia, Abnormal pupil morphology, Microcornea, Hypoplastic iris stroma, Chorioret... ORPHA:233
Neurocutaneous Melanocytosis
EEG abnormality, Abnormality of neuronal migration ORPHA:2481
Rodrigues Blindness
Microphthalmia OMIM:268320
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Increased density of long bones, Tibial bowing, Hypoplasia of first ribs, Hepatobl... OMIM:269150
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Abnormality of the uterus, Triphalangeal thum... ORPHA:857
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment ORPHA:309246
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Orofaciodigital Syndrome Xvi
Inability to walk, Gray matter heterotopia, Ataxia OMIM:617563
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Trisomy 13
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia ORPHA:3378
Aniridia And Absent Patella
Aniridia, Cataract, Aplasia/Hypoplasia of the patella OMIM:106220
Acro-Renal-Ocular Syndrome
Microcornea, Triphalangeal thumb, Vesicoureteral reflux, Iris coloboma, Hypoplasia of the ulna, F... ORPHA:959
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration, Cognitive impairment ORPHA:2063
Joubert Syndrome 30
Gray matter heterotopia OMIM:617622
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Subcortical heterotopia, Agyria, Gray matter heterotopia, Lissencephaly, Pachygyria, Polymicrogyr... OMIM:614643
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Desmosterolosis
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... ORPHA:35107
Microphthalmia, Syndromic 3
Cataract, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypospadias, Ventricular ... OMIM:206900
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Ataxia, Periventricular heterotopia ORPHA:255138
Familial Dysautonomia
Abnormal pupil morphology, Heterochromia iridis, Corneal erosion, Corneal opacity ORPHA:1764
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Joubert Syndrome 37
Microphthalmia OMIM:619185
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Hypospadias, Ventricular septal defect, Sclerocornea, Ovotestis, Cataract, Hypo... OMIM:309801
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Spondyloocular Syndrome
Long toe, Cataract, Unilateral cryptorchidism, Arachnodactyly, Femur fracture, Overlapping toe, L... OMIM:605822
Periventricular Nodular Heterotopia
Gastroesophageal reflux, Periventricular heterotopia ORPHA:98892
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia OMIM:120200
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... ORPHA:2211
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Monosomy 18P
Microphthalmia ORPHA:1598
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Congenital Muscular Dystrophy With Cerebellar Involvement
Gray matter heterotopia, Polymicrogyria, Type II lissencephaly ORPHA:370959
Temtamy Syndrome
Microphthalmia OMIM:218340
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia, Difficulty walking ORPHA:531151
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Band keratopathy, Asplenia, Hepatitis, Thymoma, Keratoconjunctivitis, Chronic hepatitis... OMIM:269200
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia OMIM:618494
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Cutis Marmorata Telangiectatica Congenita
Leukocoria OMIM:219250
Moebius Syndrome
Microphthalmia OMIM:157900
Thanatophoric Dysplasia
Gray matter heterotopia ORPHA:2655
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Self-injurious behavior, Impulsivity, Attention deficit hyperactivity disorder, Periventricular h... OMIM:618929
Coffin-Lowry Syndrome
Self-injurious behavior, Gait disturbance, Abnormality of neuronal migration ORPHA:192
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Multiple Acyl-Coa Dehydrogenase Deficiency
Inability to walk, Gray matter heterotopia, Vomiting, Dysphagia ORPHA:26791
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia OMIM:617914
Baraitser-Winter Syndrome 1
Microphthalmia OMIM:243310
Gracile Bone Dysplasia
Aniridia, Microphthalmia OMIM:602361
Rere-Related Neurodevelopmental Syndrome
Microphthalmia ORPHA:494344
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia ORPHA:2470
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Ectopia pupillae, Astigmatism, Cataract OMIM:618727
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Vici Syndrome
Gray matter heterotopia, EEG abnormality ORPHA:1493
Oculodentodigital Dysplasia, Autosomal Recessive
Microcornea, Cataract, Persistent pupillary membrane OMIM:257850
Meckel Syndrome, Type 2
Microphthalmia OMIM:603194
Neu-Laxova Syndrome
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... ORPHA:2671
6Q Terminal Deletion Syndrome
Periventricular heterotopia, Abnormality of neuronal migration, Dysmetria, Hypsarrhythmia, Gait a... ORPHA:75857
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Joubert Syndrome With Oculorenal Defect
Ataxia, Abnormality of neuronal migration ORPHA:2318
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
3C Syndrome
Gastroesophageal reflux, Abnormality of neuronal migration ORPHA:7
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
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Diarrhea, Polymicrogyria, Vomiting, Abnormality of neuronal migration OMIM:608836
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Periventricular heterotopia, Unsteady gait, Decreased amplit... OMIM:618733
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Fanconi Anemia, Complementation Group I
Microphthalmia, Optic nerve hypoplasia OMIM:609053
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos ORPHA:2399
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Congenital Disorder Of Deglycosylation 2
Gray matter heterotopia, Polymicrogyria, Dysphagia OMIM:619775
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Congenital Fibrinogen Deficiency
Microphthalmia ORPHA:335
Nijmegen Breakage Syndrome
Abnormality of chromosome stability, Chronic diarrhea, Abnormality of neuronal migration, Attenti... ORPHA:647
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Trichothiodystrophy 3, Photosensitive
Microphthalmia OMIM:616395
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration ORPHA:2518
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormality of neuronal migration, Gastroesophageal reflux, Vomiting, Attention deficit hyperacti... ORPHA:464311
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Van Maldergem Syndrome 1
Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Periventricular ... OMIM:601390
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Attention deficit hyperactivity disorder, Periventricular heterotopia OMIM:618870
Peroxisome Biogenesis Disorder 1A (Zellweger)
Unsteady gait, Gray matter heterotopia, Dysphagia, Loss of ambulation, Polymicrogyria OMIM:214100
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Meckel Syndrome, Type 4
Microphthalmia OMIM:611134
Refsum Disease
Microphthalmia ORPHA:773
Ulbright-Hodes Syndrome
Abnormal penis morphology, Short humerus, Short metacarpal, Abnormal external genitalia, Enlarged... ORPHA:3404
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Polymicrogyria OMIM:617397
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos ORPHA:369891
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Joubert Syndrome With Hepatic Defect
Ataxia, Abnormality of neuronal migration, Gait disturbance ORPHA:1454
Warburg Micro Syndrome 3
Microphthalmia OMIM:614222
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Marden-Walker Syndrome
Microphthalmia OMIM:248700
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Cataract, Urethrovaginal fistula, Cryptorchidism, Abnormal pelvis bone ossif... ORPHA:93271
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Pierson Syndrome
Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris... OMIM:609049
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Short metatarsal, Femoral bowing, Tibial bowing, Atrial septal defect... OMIM:304120
Nephronophthisis 11
Anisocoria OMIM:613550
Tetraamelia Syndrome 1
Cataract, Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Urethral atresia... OMIM:273395
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Joubert Syndrome 14
Microphthalmia OMIM:614424
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Knobloch Syndrome 1
Band keratopathy, Chorioretinal atrophy, Developmental cataract, Iris transillumination defect, L... OMIM:267750
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Cataract, Corneal opacity, Chorioretinal dysplasia, Cryptorchidism, Abnormal... ORPHA:534
Orofaciodigital Syndrome Type 6
Ataxia, Abnormality of neuronal migration, Gait disturbance ORPHA:2754
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Roberts-Sc Phocomelia Syndrome
Tetraphocomelia, Atrial septal defect, Phocomelia, Accessory spleen, Syndactyly, Hypoplasia of th... OMIM:268300
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Anisocoria, Cryptorchidism, Micropenis, Supernumerary nipple OMIM:618653
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Lissencephaly OMIM:617822
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Carnitine Palmitoyltransferase Ii Deficiency
Polymicrogyria, Pachygyria, Abnormality of neuronal migration ORPHA:157
Norrie Disease
Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal opacity, Sclerocornea,... ORPHA:649
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Cerebrofacioarticular Syndrome
Gray matter heterotopia, Self-injurious behavior, Ataxia ORPHA:314679
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Ritscher-Schinzel Syndrome 3
Microphthalmia OMIM:619135
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia OMIM:241410
Trichinellosis
Anisocoria, Conjunctival hyperemia, Conjunctivitis, Abnormal uvea morphology ORPHA:863
Achalasia-Addisonianism-Alacrima Syndrome
Anisocoria OMIM:231550
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Gray matter heterotopia, Lissencephaly, Simplified gyral pattern OMIM:615219
Charge Syndrome
Decreased response to growth hormone stimulation test, External genital hypoplasia, Secundum atri... OMIM:214800
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia OMIM:616449
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia OMIM:618571
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia ORPHA:2728
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Peroxisome Biogenesis Disorder 13A (Zellweger)
Gray matter heterotopia, Polymicrogyria OMIM:614887
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia ORPHA:2505
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Gray matter heterotopia, Frontal polymicrogyria, Pachygyria, Hypsarrhythmia OMIM:620024
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Ectopia pupillae, Aplasia of the thymus, Decreased response to growth hormone... OMIM:618223
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia OMIM:613001
Revesz Syndrome
Megalocornea, Leukocoria OMIM:268130
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Micro Syndrome
Microphthalmia ORPHA:2510
Thanatophoric Dysplasia, Type I
Gray matter heterotopia OMIM:187600
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria ORPHA:2714
Martsolf Syndrome 1
Microphthalmia OMIM:212720
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Polymicrogyria, Pachygyria, Abnormality of neuronal migration ORPHA:228308
Thanatophoric Dysplasia Type 1
Gray matter heterotopia ORPHA:1860
Adams-Oliver Syndrome
Microphthalmia ORPHA:974
Scalp-Ear-Nipple Syndrome
Cataract, Developmental cataract, Anisocoria, Breast aplasia, Iris coloboma OMIM:181270
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia OMIM:619148
Kapur-Toriello Syndrome
Microphthalmia OMIM:244300
Charcot-Marie-Tooth Disease Type 4C
Anisocoria, Abnormal pupillary light reflex ORPHA:99949
Miller-Dieker Lissencephaly Syndrome
Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria OMIM:247200
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Koolen-De Vries Syndrome
Gray matter heterotopia, Hyperactivity, Impulsivity OMIM:610443
Bohring-Opitz Syndrome
Gray matter heterotopia, Gastroesophageal reflux OMIM:605039
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia, Constipation, Gastroesophageal reflux, Bruxism ORPHA:453499
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Anisocoria OMIM:615510
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Van Maldergem Syndrome 2
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia OMIM:615546
Retinoblastoma
Leukocoria, Uveitis, Pineoblastoma, Hypopyon, Heterochromia iridis ORPHA:790
Opitz-Kaveggia Syndrome
Gray matter heterotopia, Constipation, Attention deficit hyperactivity disorder OMIM:305450
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Periventricular heterotopia, Simplified gyral pattern, Self-injurious behavior, Lissencephaly, Pa... ORPHA:468631
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Holoprosencephaly
Constipation, Gastroesophageal reflux, Abnormality of neuronal migration, Cognitive impairment ORPHA:2162
Frontonasal Dysplasia 2
Microphthalmia OMIM:613451
Frontorhiny
Microphthalmia ORPHA:391474
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Cutis Marmorata Telangiectatica Congenita
Displacement of the urethral meatus, Leukocoria ORPHA:1556
Microphthalmia, Lenz Type
Microphthalmia ORPHA:568
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Phace Association
Microphthalmia, Optic nerve hypoplasia OMIM:606519
Oculoauricular Syndrome
Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia OMIM:612109
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia, Dysphagia ORPHA:261250
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia OMIM:614230
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... ORPHA:353281
Mosaic Trisomy 1
Microphthalmia ORPHA:1692
Isolated Arrhinia
Microphthalmia ORPHA:1134
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia OMIM:253800
Cohen Syndrome
Microphthalmia ORPHA:193
Mosaic Trisomy 9
Microphthalmia ORPHA:99776
Duane-Radial Ray Syndrome
Microphthalmia, Optic disc hypoplasia OMIM:607323
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of the iris, Ectopia ... OMIM:175780
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Gastroparesis, Inability to walk, Gray matter heterotopia, Constipation, Bruxism, Episodic vomiting ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Gastroparesis, Inability to walk, Gray matter heterotopia, Constipation, Bruxism, Episodic vomiting ORPHA:352665
Pseudotrisomy 13 Syndrome
Microphthalmia OMIM:264480
Retinoblastoma
Leukocoria, Pinealoma OMIM:180200
Joubert Syndrome 2
Microphthalmia OMIM:608091
Stromme Syndrome
Microphthalmia, Optic nerve hypoplasia OMIM:243605
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Microphthalmia OMIM:251300
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia ORPHA:3412
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia ORPHA:464738
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va... OMIM:303600
Papillorenal Syndrome
Microphthalmia OMIM:120330
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Fryns Syndrome
Microphthalmia ORPHA:2059
Meckel Syndrome 14
Microphthalmia OMIM:619879
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Microphthalmia, Optic nerve hypoplasia OMIM:236670
Fanconi Anemia, Complementation Group F
Microphthalmia OMIM:603467
Ohdo Syndrome, X-Linked
Microphthalmia OMIM:300895
Focal Dermal Hypoplasia
Hypoplasia of the iris, Microphthalmia ORPHA:2092
Craniorachischisis
Bifid sternum ORPHA:63260
Premature Aging Syndrome, Penttinen Type
Microphthalmia OMIM:601812
Mowat-Wilson Syndrome
Bifid scrotum, Cataract, Hypospadias, Supernumerary nipple, Cryptorchidism, Microcornea, Ectopia ... OMIM:235730
Superficial Siderosis
Anisocoria ORPHA:247245
Fanconi Anemia, Complementation Group E
Microphthalmia OMIM:600901
2Q31.1 Microdeletion Syndrome
Microphthalmia ORPHA:251014
Wolf-Hirschhorn Syndrome
Rieger anomaly, Hypospadias, Precocious puberty, Cryptorchidism, Ectopia pupillae, Aplasia of the... OMIM:194190
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos OMIM:618874
1Q21.1 Microdeletion Syndrome
Microphthalmia ORPHA:250989
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Holoprosencephaly 14
Gray matter heterotopia, EEG abnormality, Periventricular heterotopia OMIM:619895
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos ORPHA:2839
Fanconi Anemia, Complementation Group A
Microphthalmia OMIM:227650
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia OMIM:219730
Lymphedema-Distichiasis Syndrome
Microphthalmia OMIM:153400
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Hallermann-Streiff Syndrome
Microphthalmia OMIM:234100
Atelis Syndrome 2
Microphthalmia OMIM:620185
Cousin Syndrome
Microphthalmia OMIM:260660
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia OMIM:308300
Trisomy 18
Microphthalmia ORPHA:3380
Dubowitz Syndrome
Hypoplasia of the iris, Microphthalmia OMIM:223370
Jacobsen Syndrome
Microphthalmia, Macular hypoplasia OMIM:147791
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia OMIM:616300
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Iris atrophy, Cataract, Hypospadias, Septate vagina, Cryptorchidism, Abnormal pupi... ORPHA:261552
Mycophenolate Mofetil Embryopathy
Microphthalmia ORPHA:268249
Incontinentia Pigmenti
Microphthalmia ORPHA:464
Arima Syndrome
Gray matter heterotopia, Polydipsia, Ataxia OMIM:243910
Cat Eye Syndrome
Microphthalmia OMIM:115470
Fanconi Anemia, Complementation Group C
Microphthalmia OMIM:227645
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Acromelic Frontonasal Dysostosis
Gray matter heterotopia, Periventricular nodular heterotopia OMIM:603671
Pallister-Hall Syndrome
Microphthalmia OMIM:146510
Witteveen-Kolk Syndrome
Cataract, Hypospadias, Decreased response to growth hormone stimulation test, Unilateral cryptorc... OMIM:613406
Vici Syndrome
Gray matter heterotopia, Dysphagia OMIM:242840
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Steinfeld Syndrome
Microphthalmia OMIM:184705
Monosomy 9Q22.3
Microphthalmia ORPHA:77301
Histiocytoid Cardiomyopathy
Microphthalmia, Congenital aphakia ORPHA:137675
Basal Cell Nevus Syndrome 1
Microphthalmia OMIM:109400
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microphthalmia, Optic nerve hypoplasia ORPHA:508498
Genitourinary And/Or Brain Malformation Syndrome
Gray matter heterotopia, Polymicrogyria, Attention deficit hyperactivity disorder OMIM:618820
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... ORPHA:353277
Microphthalmia, Syndromic 9
Anophthalmia, Bilateral microphthalmos OMIM:601186
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610829
Kenny-Caffey Syndrome, Type 2
Microphthalmia OMIM:127000
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Abnormal cortical gyration, Progressive neurologic deterioration, Microlissencephaly, Gray matter... OMIM:210710
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Anophthalmia ORPHA:2538
Fanconi Anemia, Complementation Group L
Microphthalmia OMIM:614083
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Aicardi Syndrome
Gray matter heterotopia, Pachygyria, Polymicrogyria OMIM:304050
Fraser Syndrome 2
Microphthalmia OMIM:617666
Fanconi Anemia, Complementation Group D2
Microphthalmia OMIM:227646
Rothmund-Thomson Syndrome, Type 2
Microphthalmia OMIM:268400
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia ORPHA:2526
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia ORPHA:1052
Hallermann-Streiff Syndrome
Microphthalmia ORPHA:2108
Phace Syndrome
Microphthalmia, Lens coloboma, Optic nerve hypoplasia ORPHA:42775
Bartsocas-Papas Syndrome 1
Microphthalmia OMIM:263650
Cockayne Syndrome B
Hypoplasia of the iris, Microphthalmia OMIM:133540
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia ORPHA:2166
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
Treacher-Collins Syndrome
Microphthalmia ORPHA:861
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia ORPHA:1106
Aicardi Syndrome
Microphthalmia ORPHA:50
Trichothiodystrophy
Bilateral microphthalmos ORPHA:33364
Orofaciodigital Syndrome I
Gray matter heterotopia, Abnormal cortical gyration OMIM:311200
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Phthisis bulbi OMIM:259770
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Holoprosencephaly 7
Microphthalmia, Bilateral microphthalmos OMIM:610828
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia OMIM:609945
Cockayne Syndrome Type 3
Microphthalmia ORPHA:90324
Fanconi Anemia
Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:84
Monosomy 9P
Microphthalmia ORPHA:261112
Mend Syndrome
Microphthalmia ORPHA:401973
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia OMIM:276300
Smith-Lemli-Opitz Syndrome
Hyperactivity, Aggressive behavior, Periventricular heterotopia, Gastroesophageal reflux, Constip... OMIM:270400
22Q11.2 Deletion Syndrome
Microphthalmia ORPHA:567
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina OMIM:253280
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia ORPHA:3186
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Fryns Syndrome
Microphthalmia OMIM:229850
Vascular Ehlers-Danlos Syndrome
Keratoconus, Hypospadias, Cryptorchidism, Abnormal pupil morphology, Cystocele, Uterine rupture, ... ORPHA:286
Myhre Syndrome
Microphthalmia OMIM:139210
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Anophthalmia ORPHA:2556
Roberts Syndrome
Microphthalmia ORPHA:3103
Cockayne Syndrome
Microphthalmia ORPHA:191
Proboscis Lateralis
Microphthalmia, Anophthalmia, Optic nerve hypoplasia ORPHA:141099
Sponastrime Dysplasia
Cataract, Hypospadias, Precocious puberty, Microcoria, Congenital aphakia ORPHA:93357
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Microphthalmia OMIM:620186
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
Fontaine Progeroid Syndrome
Gray matter heterotopia, Gastroesophageal reflux, Periventricular heterotopia OMIM:612289
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia OMIM:616734
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia OMIM:608670
Charge Syndrome
Microphthalmia, Anophthalmia ORPHA:138
Pagod Syndrome
Abnormality of neuronal migration ORPHA:991
Yunis-Varon Syndrome
Microphthalmia, Bilateral microphthalmos ORPHA:3472
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia ORPHA:306542
Focal Dermal Hypoplasia
Aniridia, Microphthalmia, 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
Neuroocular Syndrome
Hypoplasia of the fovea, Microphthalmia, Lens coloboma OMIM:619539
Mowat-Wilson Syndrome
Broad-based gait, Ataxia, Bowel incontinence, Periventricular heterotopia, Inability to walk, Ent... ORPHA:2152
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
Broad-based gait, Bowel incontinence, Periventricular heterotopia, Abnormal repetitive mannerisms... ORPHA:261537
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos ORPHA:93325
Neu-Laxova Syndrome 1
Microphthalmia OMIM:256520
Lowe Oculocerebrorenal Syndrome
Microphthalmia OMIM:309000
Holoprosencephaly 1
Microphthalmia OMIM:236100
Fraser Syndrome 1
Anophthalmia, Bilateral microphthalmos OMIM:219000
Orofaciodigital Syndrome Xiv
Polymicrogyria, Simplified gyral pattern, Periventricular heterotopia 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
Bilateral microphthalmos, Optic nerve hypoplasia ORPHA:508488
Hydrolethalus Syndrome 1
Gray matter heterotopia, Abnormal cortical gyration OMIM:236680
Branchiooculofacial Syndrome
Microphthalmia, Anophthalmia OMIM:113620
Proteus Syndrome
Gray matter heterotopia ORPHA:744
Genitopatellar Syndrome
Periventricular heterotopia, Pachygyria, Dysphagia OMIM:606170
Holoprosencephaly 2
Microphthalmia OMIM:157170
Orofaciodigital Syndrome Type 14
Periventricular heterotopia ORPHA:434179
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 Dync1li1em1(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 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Sexual Dimorphism of the Mouse Plasma Metabolome Is Associated with Phenotypes of 30 Gene Knockout Lines. Metabolites (August 2023) Dync1li1em1(IMPC)Tcp PMC10456929
Proteotyping of knockout mouse strains reveals sex- and strain-specific signatures in blood plasma. NPJ systems biology and applications (May 2021) Dync1li1em1(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
Dync1li1em1(IMPC)Tcp Exon Deletion Mice, Tissue
Dync1li1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Dync1li1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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