Gene Summary

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
enlarged lymph nodes Dync1li1em1(IMPC)Tcp HET Late adult 0.00
abnormal sternum 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
abnormal skin morphology Dync1li1em1(IMPC)Tcp HET Late adult 0.00
abnormal seminal vesicle morphology Dync1li1em1(IMPC)Tcp HOM Early adult 0.00
abnormal liver morphology Dync1li1em1(IMPC)Tcp HET Late adult 0.00
abnormal testis morphology Dync1li1em1(IMPC)Tcp HET Late adult 0.00
abnormal lung morphology Dync1li1em1(IMPC)Tcp HET Early adult 0.00
abnormal seminal vesicle morphology Dync1li1em1(IMPC)Tcp HET Late adult 0.00
microphthalmia Dync1li1em1(IMPC)Tcp HOM E15.5 0.00
small kidney Dync1li1em1(IMPC)Tcp HET Late adult 0.00
enlarged lymph nodes Dync1li1em1(IMPC)Tcp HET Early adult 0.00
small heart Dync1li1em1(IMPC)Tcp HET Late adult 0.00
enlarged prostate gland Dync1li1em1(IMPC)Tcp HET Late adult 0.00
preweaning lethality, incomplete penetrance Dync1li1em1(IMPC)Tcp HOM   Early adult 0.00
mydriasis Dync1li1em1(IMPC)Tcp HOM Early adult 4.49×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

X-ray

XRay Images Skull Lateral Orientation

12 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

3 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

Eye Morphology

Images Slit Lamp

25 Images

Eye Morphology

Images Ophthalmoscopy

3 Images

Eye Morphology

Images Ophthalmoscopy

58 Images

Gross Pathology and Tissue Collection

Images

19 Images

Histopathology

Images

13 Images

Gross Pathology and Tissue Collection

Images

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Histopathology

Images

3 Images

Immunophenotyping

Panel B FCS file(s)

2 Images

Immunophenotyping

Panel B FCS file(s)

2 Images

Immunophenotyping

Panel A FCS file(s)

2 Images

Immunophenotyping

Panel A FCS file(s)

2 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.

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
Anophthalmia, Microphthalmia ORPHA:85275
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacyt... 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
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Nodular Neuronal Heterotopia
Abnormality of neuronal migration, EEG abnormality ORPHA:2149
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells... OMIM:619126
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor... ORPHA:86841
Isolated Lissencephaly Type 1 Without Known Genetic Defects
EEG with changes in voltage, Hypsarrhythmia, Pachygyria, Agyria, Gray matter heterotopia ORPHA:1084
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Elliptocytosis, Macrocytic anemia,... OMIM:300835
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly OMIM:615411
Sub-Cortical Nodular Heterotopia
Polymicrogyria, EEG with focal slow activity, Abnormality of neuronal migration, EEG with focal s... ORPHA:101029
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Rh-Null, Amorph Type
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis OMIM:617970
Gombo Syndrome
Microphthalmia OMIM:233270
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Attention deficit hyperactivity disorder, Motor stereotypy, At... OMIM:618709
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Lissencephaly, Polymicrogyria, Self-mutilation, Abnormality of neuronal migration, Aggressive beh... OMIM:604317
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hypochromia, Anemia, Decre... OMIM:616860
Lissencephaly 1
Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly OMIM:607432
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Zonular cataract ORPHA:39044
Symmetrical Thalamic Calcifications
EEG abnormality, Abnormality of neuronal migration, Cognitive impairment, Ataxia ORPHA:1314
Microphthalmia/Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia, Hypsarrhythmia OMIM:608097
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... OMIM:224120
Nanophthalmos 4
Microphthalmia OMIM:615972
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Lissencephaly 3
Polymicrogyria, Periventricular laminar heterotopia, Ataxia, Pachygyria, Agyria, Gray matter hete... OMIM:611603
Lissencephaly, X-Linked, 1
Ataxia, Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly OMIM:300067
Maternal Hyperthermia-Induced Birth Defects
EEG abnormality, Abnormality of neuronal migration, Cognitive impairment ORPHA:2216
Anterior Segment Dysgenesis 3
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... OMIM:601631
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Respiratory tract infection, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopa... ORPHA:444463
Nanophthalmos
Microphthalmia ORPHA:35612
Microlissencephaly
Polymicrogyria, Periventricular heterotopia, Pachygyria, Subcortical heterotopia, Lissencephaly, ... ORPHA:1083
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Inability to walk, Periventricular nodular heterotopia OMIM:618572
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Pandas
Depression, Abnormal fear-induced behavior, Encopresis, Emotional lability, Obsessive-compulsive ... ORPHA:66624
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Hemimegalencephaly
Hemihypsarrhythmia, Polymicrogyria, Interictal EEG abnormality, EEG with burst suppression, Abnor... ORPHA:99802
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Hypsarrhythmia OMIM:615544
Cntnap2-Related Developmental And Epileptic Encephalopathy
Ataxia, Mental deterioration, Abnormal temper tantrums, EEG with generalized epileptiform dischar... 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
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis ORPHA:247815
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos... ORPHA:71275
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Recurrent sinopulmonary infections, Increased proportion of transitional B cells, D... OMIM:615513
Iridocorneal Endothelial Syndrome
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... ORPHA:64734
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,... ORPHA:98870
Iatrogenic Botulism
Mydriasis ORPHA:254509
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Focal EEG discharges with secon... ORPHA:3077
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Microcoria, Congenital
Miosis, Hypoplasia of the iris dilator muscle, Microcoria OMIM:156600
Wound Botulism
Mydriasis ORPHA:178475
Inhalational Botulism
Mydriasis ORPHA:254504
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Anisocytosis, Hypochromia, Poikilocytosis, Pyrimidine-r... OMIM:258900
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea... OMIM:619846
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, Lymphadenopathy, B lymph... OMIM:619164
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Autoimmune h... OMIM:608184
Botulism
Mydriasis ORPHA:1267
Myopia 27, Autosomal Dominant
Increased axial length of the globe OMIM:618827
Retinitis Pigmentosa And Erythrocytic Microcytosis
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... OMIM:616959
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Pituitary Apoplexy
Mydriasis, Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Dec... ORPHA:95613
Isolated Splenogonadal Fusion
Abnormal penis morphology, Testicular mass, Polysplenia, Bilateral cryptorchidism, Abnormal scrot... ORPHA:457083
Foodborne Botulism
Mydriasis ORPHA:228371
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Polymicrogyria Due To Tubb2B Mutation
Abnormal temper tantrums, Polymicrogyria, Attention deficit hyperactivity disorder, Cognitive imp... ORPHA:300573
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Infant Botulism
Mydriasis, Keratoconjunctivitis sicca ORPHA:178478
Miller Fisher Syndrome
Mydriasis, Anisocoria ORPHA:98919
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Chudley-Mccullough Syndrome
Gray matter heterotopia, Polymicrogyria OMIM:604213
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Anisocytos... 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
Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upper respiratory trac... OMIM:602450
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Periventricular nodular heterotopia, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620065
Kimura Disease
Eosinophilia, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae OMIM:609141
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Atelectasis, Hepatosplenomegaly, Leukocytosis, Reticulocytosis, Anisocytosis, Poikilocytosis, Dec... OMIM:618278
Mmep Syndrome
Microphthalmia ORPHA:3434
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia 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, Periventricular heterotopia, Truncal ataxia, Unsteady gait, Simplified gyral p... OMIM:618273
Serotonin Syndrome
Mydriasis ORPHA:43116
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... 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
Osteopetrosis, Autosomal Recessive 5
Mydriasis, Stillbirth OMIM:259720
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Lymphadenitis, Lymphop... OMIM:618986
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Subependymal Nodular Heterotopia
Polymicrogyria, EEG with temporal focal spike waves, Interictal EEG abnormality, Abnormality of n... ORPHA:101030
Hec Syndrome
Vaginal hydrocele, Abnormal pupil morphology, Developmental cataract 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
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis OMIM:604273
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Porphyria Due To Ala Dehydratase Deficiency
Depression, Diarrhea, Abnormal fear-induced behavior, Difficulty walking, Confusion, Constipation... ORPHA:100924
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
Gray matter heterotopia, Constipation, Dysdiadochokinesis OMIM:231950
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Gray matter heterotopia, Dysgyria 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
Alternating Hemiplegia Of Childhood
Mydriasis ORPHA:2131
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Abnormal pupil morphology, Astigmatism, Ocular albinism ORPHA:54
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Difficulty walking, Gray matter heterotopia, Tip-toe gait ORPHA:370980
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Recurrent upper respiratory tract infections, Pure red cell aplasia, Lymphopenia, Lymp... OMIM:613179
Woolly Hair
Cataract, Abnormal pupil morphology ORPHA:170
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Fragile X Syndrome
Periventricular heterotopia, Recurrent hand flapping, Hyperactivity, Self-biting, Folate-dependen... OMIM:300624
Band Heterotopia
Gray matter heterotopia, Subcortical band heterotopia, Polymicrogyria OMIM:600348
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Tetrasomy 18P
Abnormality of neuronal migration, Gait disturbance, Achalasia ORPHA:3307
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration, Depression, Gait disturbance OMIM:300957
Bickerstaff Brainstem Encephalitis
Mydriasis, Anisocoria ORPHA:79138
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lymph node morphology, Abnormality of the lymphatic system, Neutrophilia, Anemia, Abnorm... ORPHA:54251
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Mydriasis OMIM:619351
Lissencephaly 6 With Microcephaly
Polymicrogyria, Periventricular heterotopia, Microlissencephaly, Pachygyria, Lissencephaly, Simpl... OMIM:616212
Cocaine Intoxication
Mydriasis ORPHA:90068
Cofs Syndrome
Microphthalmia ORPHA:1466
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Pneumonia, Abnormally low T cell receptor excision circle level, Reduced natural killer cell coun... ORPHA:276
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Lissencephaly Syndrome, Norman-Roberts Type
Abnormality of neuronal migration, Microlissencephaly, Dysphagia, 4-layered lissencephaly ORPHA:89844
Periventricular Nodular Heterotopia 7
Polymicrogyria, Periventricular nodular heterotopia, Hypsarrhythmia, Ataxia, Gray matter heterotopia OMIM:617201
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Scorpion Envenomation
Miosis, Mydriasis ORPHA:466677
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Lissencephaly 5
Type II lissencephaly, Gray matter heterotopia, Subcortical band heterotopia OMIM:615191
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris OMIM:604229
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
Alexander Disease
Microcoria OMIM:203450
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Congenital Primary Aphakia
Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi... ORPHA:83461
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Phacoanaphylactic Uveitis
Posterior uveitis, Anterior chamber flare grade 1+, Panuveitis, Hypopyon, Posterior synechiae of ... ORPHA:209959
Craniotubular Dysplasia, Ikegawa Type
Mydriasis OMIM:619727
Fuchs Heterochromic Iridocyclitis
Cataract, Chorioretinal scar, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, A... ORPHA:263479
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... OMIM:310600
Pierpont Syndrome
Microphthalmia ORPHA:487825
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Axenfeld-Rieger Syndrome, Type 1
Microcornea, Abnormally prominent line of Schwalbe, Ectopia pupillae, Decreased response to growt... OMIM:180500
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Proteus-Like Syndrome
Cataract, Thymus hyperplasia, Abnormality of the parathyroid gland, Abnormal pupil morphology, Po... 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-Impaired Intellectual Development Syndrome
Microphthalmia OMIM:601794
Short Syndrome
Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Posterior embryotoxon, Abnormal ... ORPHA:3163
Aniridia 1
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupilla... 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
Recurrent pneumonia, Lymph node hypoplasia, Recurrent sinusitis, Bronchiolitis obliterans, Neutro... 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
Gastroesophageal reflux, Gait imbalance, Aggressive behavior, Attention deficit hyperactivity dis... OMIM:619312
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration, EEG abnormality ORPHA:44
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris... ORPHA:2334
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Bent Bone Dysplasia Syndrome 2
Thin ribs, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Fem... 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
Interictal EEG abnormality, Periventricular nodular heterotopia, Gait disturbance, Ataxia, EEG wi... ORPHA:352582
Oculogastrointestinal Neurodevelopmental Syndrome
Unilateral microphthalmos, Bilateral microphthalmos OMIM:619318
Congenital Toxoplasmosis
Microphthalmia ORPHA:858
Axenfeld-Rieger Syndrome, Type 3
Ectopia pupillae, Posterior embryotoxon, Posterior synechiae of the anterior chamber, 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
Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Thrombocytopenia,... ORPHA:79277
Meige Disease
Lymph node hypoplasia, Pleural effusion, Absence of lymph node germinal center ORPHA:90186
Acalvaria
Abnormality of neuronal migration ORPHA:945
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, Aniridia, Anterior segment of eye aplasia, Congenital aphakia 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, Polymicrogyria, Periventricular nodular heterotopia, Attention deficit hyperact... OMIM:618918
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Galloway-Mowat Syndrome
EEG abnormality, Abnormality of neuronal migration, Cognitive impairment, Pachygyria ORPHA:2065
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia 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
Self-injurious behavior, Gastroesophageal reflux, Periventricular heterotopia, Irritability, Aggr... OMIM:619833
Alagille Syndrome
Corneal dystrophy, Keratoconus, Abnormal pupil morphology, Cryptorchidism ORPHA:52
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal... ORPHA:91495
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration, Cognitive impairment ORPHA:93274
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Plague
Conjunctival hyperemia, Mydriasis ORPHA:707
Chiari Malformation Type Ii
Gray matter heterotopia, Dysphagia, Ataxia OMIM:207950
Bilateral Perisylvian Polymicrogyria
EEG with frontal focal spikes, Gastroesophageal reflux, Bilateral perisylvian polymicrogyria, Per... ORPHA:98889
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:290
Congenital Fibrosis Of Extraocular Muscles
Cataract, Abnormal pupil shape, Hypogonadotropic hypogonadism, Slow pupillary light response, Mio... ORPHA:45358
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Joubert Syndrome 30
Gray matter heterotopia, Polymicrogyria OMIM:617622
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Cataract, Microcornea, Ectopia pupillae, Sclerocornea, Hypospadias 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
Gray matter heterotopia, EEG with burst suppression, Episodic vomiting, Ataxia ORPHA:280071
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:85194
Charcot-Marie-Tooth Disease Type 1E
Abnormal pupil morphology, Slow pupillary light response, Tonic pupil, Anisocoria ORPHA:90658
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610125
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Joubert Syndrome
Abnormality of neuronal migration, Gait disturbance, Ataxia, Polymicrogyria ORPHA:475
Man1B1-Cdg
Polyphagia, Broad-based gait, Periventricular heterotopia ORPHA:397941
Seckel Syndrome 2
Microphthalmia OMIM:606744
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Aplasia/Hypoplasia of the pubic bone, Hypoplastic labia majora, Hepatoblastoma, At... OMIM:269150
Distal Deletion 6P
Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnormal anterior chamber morpho... ORPHA:96125
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Bresek Syndrome
Optic nerve hypoplasia, Microphthalmia ORPHA:85284
16P13.11 Microdeletion Syndrome
Self-injurious behavior, Gastroesophageal reflux, Abnormality of neuronal migration, EEG abnormal... ORPHA:261236
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Edinburgh Malformation Syndrome
Abnormality of neuronal migration ORPHA:1895
Rodrigues Blindness
Microphthalmia OMIM:268320
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment ORPHA:309246
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Mental deterioration, Difficulty walking, Inappropriate laughter, Periventricular heterotopia, Co... OMIM:618476
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Walker-Warburg Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen... ORPHA:899
Trisomy 13
Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia ORPHA:3378
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Neurocutaneous Melanocytosis
Abnormality of neuronal migration, EEG abnormality ORPHA:2481
Orofaciodigital Syndrome Xvi
Gray matter heterotopia, Inability to walk, Ataxia OMIM:617563
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Familial Dysautonomia
Heterochromia iridis, Abnormal pupil morphology, Corneal erosion, Corneal opacity 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
Abnormally large globe, Microphthalmia OMIM:615249
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Polymicrogyria, Type II lissencephaly, Pachygyria, Subcortical heterotopia, Agyria, Gray matter h... OMIM:614643
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration, Cognitive impairment ORPHA:2063
Duane Retraction Syndrome
Microcornea, Chorioretinal coloboma, Central heterochromia, Aniridia, Abnormal pupil morphology, ... ORPHA:233
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Periventricular heterotopia, Ataxia ORPHA:255138
Solitary Median Maxillary Central Incisor
Anophthalmia, Microphthalmia OMIM:147250
Joubert Syndrome 37
Microphthalmia OMIM:619185
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Hydrolethalus
Anophthalmia, Microphthalmia ORPHA:2189
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microphthalmia ORPHA:139471
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lens coloboma, Microphthalmia OMIM:618914
Microphthalmia/Coloboma 12
Optic nerve aplasia, Microphthalmia OMIM:120200
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Monosomy 18P
Microphthalmia ORPHA:1598
Periventricular Nodular Heterotopia
Gastroesophageal reflux, Periventricular heterotopia ORPHA:98892
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Congenital Muscular Dystrophy With Cerebellar Involvement
Type II lissencephaly, Gray matter heterotopia, Polymicrogyria ORPHA:370959
Temtamy Syndrome
Microphthalmia OMIM:218340
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia OMIM:618494
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Microphthalmia ORPHA:77298
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia, Difficulty walking ORPHA:531151
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Desmosterolosis
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen... ORPHA:35107
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Moebius Syndrome
Microphthalmia OMIM:157900
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Cutis Marmorata Telangiectatica Congenita
Leukocoria OMIM:219250
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Self-injurious behavior, Attention deficit hyperactivity disorder, Periventricular heterotopia, I... OMIM:618929
Coffin-Lowry Syndrome
Self-injurious behavior, Abnormality of neuronal migration, Gait disturbance ORPHA:192
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia, Vomiting, Dysphagia, Inability to walk ORPHA:26791
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Thanatophoric Dysplasia
Gray matter heterotopia ORPHA:2655
Baraitser-Winter Syndrome 1
Microphthalmia OMIM:243310
Gracile Bone Dysplasia
Aniridia, Microphthalmia OMIM:602361
Rere-Related Neurodevelopmental Syndrome
Microphthalmia ORPHA:494344
Otodental Syndrome
Lens coloboma, Microphthalmia ORPHA:2791
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Astigmatism, Ectopia pupillae OMIM:618727
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Matthew-Wood Syndrome
Anophthalmia, Microphthalmia ORPHA:2470
6Q Terminal Deletion Syndrome
Polymicrogyria, Periventricular heterotopia, Gait ataxia, Dysmetria, Abnormality of neuronal migr... 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
Vici Syndrome
Gray matter heterotopia, EEG abnormality ORPHA:1493
Meckel Syndrome, Type 2
Microphthalmia OMIM:603194
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, Persistent pupillary membrane, Peters anomaly, Buphthalmos OMIM:613150
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Unsteady gait, Periventricular heterotopia, Decreased amplit... OMIM:618733
Microphthalmia/Coloboma 9
Microphthalmia OMIM:615145
Ulbright-Hodes Syndrome
Thin ribs, Abnormal penis morphology, Clitoral hypertrophy, Renal hypoplasia, Abnormal forearm bo... ORPHA:3404
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Microphthalmia OMIM:609053
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Abnormality of neuronal migration, Vomiting, Diarrhea, Polymicrogyria 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
Anophthalmia, Microphthalmia 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
Gray matter heterotopia, Dysphagia, Polymicrogyria OMIM:619775
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Trichothiodystrophy 3, Photosensitive
Microphthalmia OMIM:616395
Nijmegen Breakage Syndrome
Mental deterioration, Abnormality of chromosome stability, Abnormality of neuronal migration, Att... ORPHA:647
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Vomiting, Gastroesophageal reflux, Abnormality of neuronal migration, Attention deficit hyperacti... ORPHA:464311
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Neu-Laxova Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen... ORPHA:2671
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
Van Maldergem Syndrome 1
Periventricular nodular heterotopia, Pachygyria, Gray matter heterotopia, Subcortical band hetero... 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, Loss of ambulation, Gray matter heterotopia, Unsteady gait, Dysphagia OMIM:214100
Meckel Syndrome, Type 4
Microphthalmia OMIM:611134
Refsum Disease
Microphthalmia ORPHA:773
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Polymicrogyria OMIM:617397
Joubert Syndrome With Hepatic Defect
Abnormality of neuronal migration, Gait disturbance, Ataxia ORPHA:1454
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Warburg Micro Syndrome 3
Microphthalmia OMIM:614222
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Marden-Walker Syndrome
Microphthalmia OMIM:248700
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Micropenis, Anisocoria, Cryptorchidism, Supernumerary nipple OMIM:618653
Pierson Syndrome
Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body... OMIM:609049
Knobloch Syndrome 1
Band keratopathy, Chorioretinal atrophy, Slow pupillary light response, Cortical cataract, Develo... OMIM:267750
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Corneal opacity, Ectopia pupillae ORPHA:85167
Norrie Disease
Cataract, Ectopia lentis, Uterine rupture, Hypoplasia of the iris, Abnormal pupil morphology, Cry... ORPHA:649
Nephronophthisis 11
Anisocoria OMIM:613550
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Hyperparathyroidism, Cataract, Azoospermia, Abnormal pupil morphology, Cryptorchidis... ORPHA:534
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Gray matter heterotopia, Lissencephaly, Simplified gyral pattern 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
Aniridia, Microphthalmia ORPHA:251038
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia OMIM:241410
Orofaciodigital Syndrome Type 6
Abnormality of neuronal migration, Gait disturbance, Ataxia ORPHA:2754
Carnitine Palmitoyltransferase Ii Deficiency
Abnormality of neuronal migration, Pachygyria, Polymicrogyria ORPHA:157
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Lissencephaly OMIM:617822
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Microphthalmia ORPHA:3301
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Lens subluxation, Corneal opacity, Ectopia pupillae OMIM:608940
Cerebrofacioarticular Syndrome
Self-injurious behavior, Gray matter heterotopia, Ataxia ORPHA:314679
Ritscher-Schinzel Syndrome 3
Microphthalmia OMIM:619135
Trichinellosis
Conjunctival hyperemia, Conjunctivitis, Abnormal uvea morphology, Anisocoria 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
Hypoplasia of the iris, Microphthalmia OMIM:613001
Peroxisome Biogenesis Disorder 13A (Zellweger)
Gray matter heterotopia, Polymicrogyria OMIM:614887
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Pachygyria, Gray matter heterotopia, Hypsarrhythmia, Frontal polymicrogyria OMIM:620024
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
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria ORPHA:2714
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Martsolf Syndrome 1
Microphthalmia OMIM:212720
Thanatophoric Dysplasia, Type I
Gray matter heterotopia OMIM:187600
Warburg Micro Syndrome 2
Microphthalmia OMIM:614225
Scalp-Ear-Nipple Syndrome
Cataract, Breast aplasia, Developmental cataract, Anisocoria, Iris coloboma OMIM:181270
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormality of neuronal migration, Pachygyria, Polymicrogyria ORPHA:228308
Adams-Oliver Syndrome