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Gene: Eef1d MGI:1913906

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Gene Summary

Name:
eukaryotic translation elongation factor 1 delta
Synonyms:
1700026P12Rik,  5730529A16Rik

Order Alleles

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 placenta morphology Eef1dem1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta morphology Eef1dem1(IMPC)Mbp HET E15.5 0.00
corneal opacity Eef1dem1(IMPC)Mbp HET   Early adult 8.45×10-06
abnormal vitreous body morphology Eef1dem1(IMPC)Mbp HET Early adult 8.68×10-06
increased neutrophil cell number Eef1dem1(IMPC)Mbp HET Early adult 9.48×10-05
abnormal blood vessel morphology Eef1dem1(IMPC)Mbp HOM E15.5 0.00
abnormal auditory brainstem response Eef1dem1(IMPC)Mbp HET   Early adult 5.64×10-05
abnormal eye morphology Eef1dem1(IMPC)Mbp HET Early adult 0.00
cataract Eef1dem1(IMPC)Mbp HET   Early adult 2.59×10-06
small kidney Eef1dem1(IMPC)Mbp HET Early adult 0.00
microphthalmia Eef1dem1(IMPC)Mbp HET E15.5 0.00
abnormal skin morphology Eef1dem1(IMPC)Mbp HET Early adult 0.00
abnormal retina morphology Eef1dem1(IMPC)Mbp HET   Early adult 5.86×10-05
abnormal kidney morphology Eef1dem1(IMPC)Mbp HET Early adult 0.00
embryonic growth retardation Eef1dem1(IMPC)Mbp HOM E15.5 0.00
edema Eef1dem1(IMPC)Mbp HET E15.5 0.00
preweaning lethality, complete penetrance Eef1dem1(IMPC)Mbp HOM   Early adult 0.00
edema Eef1dem1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta vasculature Eef1dem1(IMPC)Mbp HET E15.5 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Gross Morphology Embryo E14.5-E15.5

Images

15 Images

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Human diseases caused by Eef1d 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 Eef1d by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Cerebellar atrophy, Restlessness, Bilateral tonic-clonic seizure, Increased neuronal autofluoresc... OMIM:610003
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Ataxia, Confusion, ... OMIM:615362
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Increased neuronal autofluorescent lipopigment, Focal-ons... OMIM:204300
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Increased neuronal autofluorescent lipopigment, Myoclonic... OMIM:162350
Epilepsy, Progressive Myoclonic, 8
Cerebellar atrophy, Bilateral tonic-clonic seizure, Progressive neurologic deterioration, Atrophy... OMIM:616230
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... OMIM:615006
Lennox-Gastaut Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Abnormal... ORPHA:2382
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Myoclonic seizure, Myoclonus, Mental ... OMIM:616187
Polymicrogyria, Bilateral Temporooccipital
Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Status epilepticus, Sudden ... OMIM:612691
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Inabili... OMIM:616346
Epilepsy, Nocturnal Frontal Lobe, 2
Depression, Bilateral tonic-clonic seizure, Aggressive behavior, Status epilepticus OMIM:603204
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Se... OMIM:619970
Dravet Syndrome
Bilateral tonic-clonic seizure, Ataxia, Generalized clonic seizure, Focal hemiclonic seizure, Vis... OMIM:607208
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Epilepsy, Progressive Myoclonic, 12
Bilateral tonic-clonic seizure, Ataxia, Dysmetria, Depression, Myoclonus, Difficulty walking, Att... OMIM:619191
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Inability to walk, Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, Aggr... OMIM:619639
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Aggressive... OMIM:300088
Landau-Kleffner Syndrome
Gait ataxia, Steppage gait, Non-convulsive status epilepticus without coma, Hyperactivity, Bilate... ORPHA:98818
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Abnormal vitreou... ORPHA:90654
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Impulsivity, Myoclonic s... OMIM:617113
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Bilateral tonic-clonic seizure, Aggressive behavior, Agitation, Status epilepticus, Emotional lab... OMIM:617171
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Broad-based gait, Bilateral tonic-clonic seizure, Dysphagia, Gait ataxia, Atr... OMIM:617862
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Bilateral tonic-clonic seizure, Unsteady gait, Seizure, Truncal ataxia, Abn... OMIM:608636
Developmental And Epileptic Encephalopathy 98
Cerebellar atrophy, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ons... OMIM:619605
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Rod-cone dystrophy, Cataract, Hearing impairment OMIM:300719
Lipedema
Edema OMIM:614103
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Abnormal antihelix morphology, Cataract, Chorioretinal coloboma, Hearing impairment OMIM:274205
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia, Status epilepticus ORPHA:22
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure OMIM:619964
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Generaliz... ORPHA:36387
Continuous Spikes And Waves During Sleep
Bilateral tonic-clonic seizure, Aggressive behavior, Focal hemiclonic seizure, Focal-onset seizur... ORPHA:725
Cataract 21, Multiple Types
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... OMIM:610202
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Cerebellar atrophy, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onse... OMIM:611726
Galactosialidosis
Cherry red spot of the macula, Corneal opacity, Hearing impairment ORPHA:351
Corneal Dystrophy-Perceptive Deafness Syndrome
Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy ORPHA:1490
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... ORPHA:275864
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Global brain atr... OMIM:613721
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Pse... ORPHA:208441
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior OMIM:617709
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, H... ORPHA:1473
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Developmental And Epileptic Encephalopathy 59
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Inability to walk, Self-... OMIM:617904
Stxbp1-Related Encephalopathy
Epileptic spasm, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil... ORPHA:599373
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic... OMIM:616540
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Generalized clonic seizure, Aggressiv... ORPHA:101039
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Bilateral tonic-clonic seizure, Progressive neurologic deterioration, Tonic seiz... OMIM:617389
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Unsteady gait, Choreoathetosis, Seizu... OMIM:301020
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, Aggressive behavior, Mental ... ORPHA:86909
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Epilepsy, Progressive Myoclonic, 6
Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Memory impairmen... OMIM:614018
Progressive Myoclonic Epilepsy Type 3
Progressive truncal ataxia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Progressive psych... ORPHA:263516
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... OMIM:245570
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Bilateral tonic-clonic seizure, Aggressive behavior, Typical absence seizure, Un... OMIM:616409
Developmental And Epileptic Encephalopathy 24
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Clonic seizure, Generalized non-moto... OMIM:615871
Developmental And Epileptic Encephalopathy 67
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Gene... OMIM:618141
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... OMIM:614417
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder OMIM:617863
Spinocerebellar Ataxia 48
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Urinary incontinence, Dysmetria, Gait... OMIM:618093
Lissencephaly 3
Ataxia, Bilateral tonic-clonic seizure, Seizure, Hypoplasia of the brainstem, Agenesis of corpus ... OMIM:611603
Pontocerebellar Hypoplasia, Type 14
Bilateral tonic-clonic seizure, Infantile spasms, Hypoplasia of the pons, Focal-onset seizure, My... OMIM:619301
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Developmental And Epileptic Encephalopathy 34
Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, I... OMIM:616645
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Inability to wa... OMIM:618090
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Benign Familial Infantile Epilepsy
Psychomotor deterioration, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:306
Isolated Focal Cortical Dysplasia
Psychomotor deterioration, Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic sei... ORPHA:65683
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Cataract, Optic atrophy, Hearing impairment OMIM:165300
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:101046
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Bilateral tonic-clonic seizure, Ataxia, Inability to walk, Dysplastic corpus callosum, Unsteady g... OMIM:620317
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Gener... OMIM:619157
Ceroid Lipofuscinosis, Neuronal, 3
Psychomotor deterioration, Bilateral tonic-clonic seizure, Increased neuronal autofluorescent lip... OMIM:204200
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Dementia, Myoclo... OMIM:254800
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... OMIM:616461
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic se... OMIM:618917
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Limb ataxia, Gait ataxia, Impaired t... OMIM:605021
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Wagner Vitreoretinopathy
Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti... OMIM:143200
Congenital Disorder Of Glycosylation, Type Iiy
Bilateral tonic-clonic seizure, Status epilepticus, Atrophy/Degeneration affecting the brainstem,... OMIM:620200
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absence) seizure, Eye... OMIM:618357
Polymicrogyria, Bilateral Perisylvian, X-Linked
Cognitive impairment, Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence se... OMIM:300388
Developmental And Epileptic Encephalopathy 74
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... OMIM:618396
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Limb ataxia, Gait ataxia OMIM:614322
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Cerebral atrop... OMIM:618497
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Choreoathetosis, Irritability, Status epilepticus, Myoclonus, Glo... OMIM:609056
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Focal-onset seizure... ORPHA:330050
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Cataract, Choroidal neovascularization, Abnormal chorioret... ORPHA:179
Bardet-Biedl Syndrome 18
Renal insufficiency, Cataract, Retinal dystrophy, Stage 5 chronic kidney disease, Rod-cone dystrophy OMIM:615995
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Polymicrogyria With Optic Nerve Hypoplasia
Bilateral tonic-clonic seizure, Infantile spasms, Dysplastic corpus callosum, Seizure, Colpocepha... ORPHA:250972
Pontocerebellar Hypoplasia, Type 15
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Partial agenesis of the co... OMIM:619302
Rasmussen Subacute Encephalitis
Subcortical cerebral atrophy, Hyperactivity, Bilateral tonic-clonic seizure with generalized onse... ORPHA:1929
X-Linked Retinoschisis
Retinoschisis, Cataract ORPHA:792
Cerebellar Atrophy, Developmental Delay, And Seizures
Cerebellar atrophy, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure OMIM:617643
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:611364
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Seizure, Athetosis, S... ORPHA:382
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Myoclonic seizur... OMIM:617831
Unilateral Hemispheric Polymicrogyria
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Late... ORPHA:101071
Yoon-Bellen Neurodevelopmental Syndrome
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Generalized myoclonic-atonic seizure, I... OMIM:619701
Familial Focal Epilepsy With Variable Foci
Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seizure, Focal-onset seizure, Fo... ORPHA:98820
Episodic Ataxia, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Episo... OMIM:618924
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Episodic ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (... OMIM:607682
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive... OMIM:619827
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Back pain, Spastic ataxia, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Aggressive b... ORPHA:199354
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Inability to walk, My... OMIM:617976
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Developmental And Epileptic Encephalopathy 37
Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure... OMIM:616981
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal hemiclonic seizure,... OMIM:619317
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, Low frustration tolerance, Abnormal repetitive mannerisms, Hyperactivity, Atax... ORPHA:168491
Developmental And Epileptic Encephalopathy 99
Cerebellar atrophy, Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic s... OMIM:619606
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Unilateral Focal Polymicrogyria
Urinary incontinence, Simple febrile seizure, Bilateral tonic-clonic seizure with focal onset, Ag... ORPHA:268947
Lissencephaly 10
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:618873
Foxg1 Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Inability to walk, Abnorma... ORPHA:561854
Succinic Semialdehyde Dehydrogenase Deficiency
Cerebellar atrophy, Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, G... OMIM:271980
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Dermoids Of Cornea
Corneal opacity OMIM:304730
Cln3 Disease
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Focal-onset seiz... ORPHA:228346
Kohlschutter-Tonz Syndrome
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Cerebral atrophy, Myoclonic seizure,... OMIM:226750
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Broad-based gait, Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Global bra... OMIM:618470
Nathalie Syndrome
Sensorineural hearing impairment, Cataract ORPHA:2663
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure, Status epilepticus OMIM:266100
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... ORPHA:293181
Developmental And Epileptic Encephalopathy 109
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a... OMIM:620145
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Generalized myoclonic-aton... OMIM:618587
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617080
Developmental And Epileptic Encephalopathy 12
Focal-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure OMIM:613722
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus, Difficulty walking OMIM:613608
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Seizure, Bilateral tonic-clonic seizure OMIM:614499
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Unsteady gait, Focal motor seizur... OMIM:617711
Developmental And Epileptic Encephalopathy 30
Generalized myoclonic seizure, Seizure, Abnormal repetitive mannerisms, Bilateral tonic-clonic se... OMIM:616341
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebellar atrophy, Bilateral tonic-clonic seizure, Cerebral atrophy, Impaired tandem gait, Brady... OMIM:300423
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... OMIM:617391
Epilepsy, Familial Adult Myoclonic, 5
Myoclonus, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal sensory seizur... OMIM:615400
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... OMIM:614500
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Epilepsy, Familial Focal, With Variable Foci 4
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... OMIM:617935
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Macular dystrophy, Corneal dystrophy, Recurrent corneal ero... OMIM:217800
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... OMIM:615369
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressive behavior, Unsteady ga... ORPHA:485350
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Neurodevelopmental Disorder With Involuntary Movements
Cerebellar atrophy, Bilateral tonic-clonic seizure, Infantile spasms, Cerebral atrophy, Dysphagia... OMIM:617493
Intellectual Developmental Disorder, X-Linked 1
Seizure, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior OMIM:309530
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Gombo Syndrome
Microphthalmia OMIM:233270
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Dysdiadoch... OMIM:614487
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Oral-pharyngeal dysp... ORPHA:208447
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Coats Disease
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... ORPHA:190
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Episodic Ataxia, Type 5
Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Myoclonus, Atypical absence seiz... OMIM:613855
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Abnormal lateral ventricle morphology, Bilateral tonic-clonic seizure, Gait a... ORPHA:488635
Benign Familial Neonatal-Infantile Seizures
Bilateral tonic-clonic seizure, Tonic seizure, Mental deterioration, Focal clonic seizure, Episod... ORPHA:140927
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Intellectual Developmental Disorder, Autosomal Dominant 5
Seizure, Bilateral tonic-clonic seizure, Brain atrophy, Myoclonic absence seizure OMIM:612621
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Congenital Disorder Of Glycosylation, Type Iaa
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Cerebral cortical atrophy, Status epilept... OMIM:617082
Retinitis Pigmentosa 40
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo... OMIM:613801
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Developmental And Epileptic Encephalopathy 41
Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Focal tonic seizure, Cerebral... OMIM:617105
Developmental And Epileptic Encephalopathy 47
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal-onset seizure, I... OMIM:617166
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Myoclonus OMIM:608105
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Irritability, M... OMIM:617290
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:254770
Developmental And Epileptic Encephalopathy 93
Cerebellar atrophy, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Clonic seizu... OMIM:618012
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, L... OMIM:310600
Aminoacylase 1 Deficiency
Cerebellar atrophy, Hyperactivity, Bilateral tonic-clonic seizure, Cerebral atrophy, Seizure, Cer... OMIM:609924
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, My... OMIM:616139
Developmental And Epileptic Encephalopathy 42
Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal tonic seizure, Myoclonic seizure, At... OMIM:617106
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:601068
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Bilateral tonic-clonic seizure, Cerebral atrophy, Depression, Dysphagia, Seiz... ORPHA:79264
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset, Short attention span ORPHA:163721
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Bilateral tonic-clonic seizure, Inability to walk, Generalized non-motor (abs... OMIM:617810
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria, Cataract OMIM:619813
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Thrombocytopenia ORPHA:1980
Rolandic Epilepsy
Short attention span, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal ... ORPHA:1945
Developmental And Epileptic Encephalopathy 52
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Limb ataxia, Seizure, Atypical absence ... OMIM:617350
Severe Canavan Disease
Bilateral tonic-clonic seizure, Oral-pharyngeal dysphagia, Inability to walk, Seizure, Irritabili... ORPHA:314911
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... OMIM:180104
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Short attention span, Bilateral tonic-clonic seizure with generalized onset, ... OMIM:619028
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... OMIM:614292
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Edema OMIM:189800
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... OMIM:618220
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Febrile Seizures, Familial, 11
Hippocampal atrophy, Febrile seizure (within the age range of 3 months to 6 years), Bilateral ton... OMIM:614418
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Edema OMIM:616570
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c... OMIM:613731
Alternating Hemiplegia Of Childhood 1
Choreoathetosis, Bilateral tonic-clonic seizure OMIM:104290
Cataract 42
Cataract, Developmental cataract OMIM:115900
Centralopathic Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures OMIM:117100
Lafora Disease
Ataxia, Confusion, Focal sensory seizure with visual features, Depression, Seizure, Gait disturba... ORPHA:501
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Developmental And Epileptic Encephalopathy 23
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Hypoplasia of the pons, Focal im... OMIM:615859
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Sensorineural hearing impairment, Cataract, Developmental cataract OMIM:613076
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... OMIM:120200
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... OMIM:193230
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... OMIM:611040
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Retinal dystrophy, Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Ch... ORPHA:231736
Mucolipidosis Iv
Optic atrophy, Retinal degeneration, Corneal opacity, Opacification of the corneal stroma OMIM:252650
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609253
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Encopresis, Depression, Irritability, Arth... ORPHA:66624
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Attached earlobe, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial a... OMIM:616108
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:600669
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Impulsivity, Aggressive... OMIM:604317
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My... OMIM:152950
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Infantile Cerebellar-Retinal Degeneration
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Athetosis, Cereb... OMIM:614559
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Hypospadias, Developmental cataract, EEG abnormality, Micropenis OMIM:618815
Morm Syndrome
Micropenis, Cataract, Retinal dystrophy, Retinal atrophy ORPHA:75858
Corneal Dystrophy And Perceptive Deafness
Sensorineural hearing impairment, Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... OMIM:204100
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o... OMIM:600059
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Cataract, Rhegmatogenous retinal detachment, Peripheral ... ORPHA:891
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bilateral tonic-clonic seizure, Bradykinesia, Generalized myoclonic seizure, Myoclonic ab... OMIM:617836
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the corn... OMIM:270200
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cerebellar atrophy, Short attention span, Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia... OMIM:619580
Seizures, Benign Familial Infantile, 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a... OMIM:607745
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Morquio Syndrome C
Corneal opacity OMIM:252300
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Chronic fatigue, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Increased cereb... OMIM:610539
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Focal-onset seizure, M... ORPHA:289266
Winchester Syndrome
Corneal opacity OMIM:277950
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... ORPHA:83461
Cerebral Creatine Deficiency Syndrome 2
Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Seizure, Myoclonus, Febrile seizure ... OMIM:612736
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Bilateral tonic-clonic seizure, Cerebral atrophy, Dysmetria, Gait ataxia, Spastic gait OMIM:615031
Juvenile Absence Epilepsy
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... ORPHA:1941
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Bilateral tonic-clonic seizure, Akinesia, Focal motor seizure, Bradykinesia, Seizure, Thinning of... OMIM:619911
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset... OMIM:618067
Nanophthalmos
Microphthalmia ORPHA:35612
Epilepsy, Familial Temporal Lobe, 2
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... OMIM:608096
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... ORPHA:363549
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604233
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Focal impaired aware... OMIM:620292
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc pallor, Chorioretin... OMIM:251270
Peho-Like Syndrome
Cerebellar atrophy, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus OMIM:617507
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Sensorineural hearing impairment, Fundus atrophy, Optic disc drusen, Pigme... OMIM:204000
Keratoendotheliitis Fugax Hereditaria
Keratitis, Conjunctival hyperemia, Epiretinal membrane, Opacification of the corneal stroma OMIM:148200
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Bilateral tonic-clonic seizure, Ataxia OMIM:618425
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Unsteady gait, Dysmetria, Gait ataxia, Falls OMIM:203740
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Hematuria, Chorioretinal coloboma, Iris coloboma, Hearing impairment OMIM:120433
Mitochondrial Complex I Deficiency, Nuclear Type 15
Cerebellar atrophy, Irritability, Bilateral tonic-clonic seizure OMIM:618237
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Focal-onset seizure, Self-injurious behavior, Convulsive status epilepticus, S... OMIM:618760
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Neural tube defect OMIM:600776
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Galactosemia Ii
Cataract, Galactosuria OMIM:230200
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Nanophthalmos 4
Microphthalmia OMIM:615972
Intellectual Developmental Disorder, X-Linked 30
Short attention span, Hyperactivity, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... OMIM:300558
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Generalized non-... OMIM:618170
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Cataract, Macular coloboma, Macular atrophy, Abnormal auditory evoked potentia... OMIM:619260
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Systemic Primary Carnitine Deficiency
Confusion, Bilateral tonic-clonic seizure with focal onset ORPHA:158
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Familial Infantile Myoclonic Epilepsy
Cerebellar atrophy, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic... ORPHA:352582
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... OMIM:620115
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Bilateral tonic-clonic seizure, Inability to walk, Myoclonic seizure, Seizure, Lateral ventricle ... OMIM:615716
Intellectual Developmental Disorder With Seizures And Language Delay
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Myoclonic seizure OMIM:619000
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:613835
Exudative Vitreoretinopathy 6
Retinal detachment, Cataract, Patchy atrophy of the retinal pigment epithelium, Chorioretinal atr... OMIM:616468
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Thrombocytopenia, Splenomegaly, S... ORPHA:290
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Inability to walk, Bilateral tonic-clonic seizure, Cerebral atrophy, Irritability ORPHA:457205
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines OMIM:301076
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Bilateral tonic-clonic seizure, Urinary incontinence, Ataxia, Unsteady gait, Cereb... ORPHA:464282
Autosomal Dominant Spastic Paraplegia Type 6
Bilateral tonic-clonic seizure, Urinary incontinence, Gait disturbance ORPHA:100988
Developmental And Epileptic Encephalopathy 102
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... OMIM:619881
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Glycogen Storage Disease 0, Muscle
Exercise intolerance, Bilateral tonic-clonic seizure OMIM:611556
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:617924
Developmental And Epileptic Encephalopathy 103
Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tonic stat... OMIM:619913
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Dysdiadochokinesis, Myoclo... ORPHA:313772
Stickler Syndrome, Type V
Retinal detachment, Sensorineural hearing impairment, Cataract, Vitreoretinopathy OMIM:614284
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Sarcosinemia
Emotional lability, Bilateral tonic-clonic seizure, Ataxia ORPHA:3129
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor tics, Ataxia, Bilateral tonic-clonic seizure, Bradykinesia, Myoclonus, Attention deficit hy... OMIM:619725
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
New-Onset Refractory Status Epilepticus
Fatigue, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure with focal ons... ORPHA:363558
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Sialidosis Type 2
Corneal opacity, Splenomegaly, Nephropathy, Abnormal macular morphology, Hearing impairment ORPHA:87876
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chronic kidney disease, Stage 5... ORPHA:3156
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Developmental And Epileptic Encephalopathy 61
Bilateral tonic-clonic seizure with focal onset, Cerebral atrophy, Seizure, Focal clonic seizure,... OMIM:617933
Sialidosis Type 1
Urinary excretion of sialylated oligosaccharides, Cataract, Corneal opacity, Decreased nerve cond... ORPHA:812
Gómez-López-Hernández Syndrome
Corneal opacity, Low-set ears ORPHA:1532
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... OMIM:604229
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hy... ORPHA:2334
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure, Urinary incontinence ORPHA:329329
Leukoencephalopathy With Vanishing White Matter 2
Cataract, Optic atrophy OMIM:620312
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma OMIM:608470
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Bilateral tonic-clonic seizure, Myoclonus, Ataxia OMIM:619065
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... OMIM:121200
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:619428
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Abnormal antihelix morphology, Chorioretinal coloboma, Hypoplasia of the antihelix, Hea... ORPHA:2489
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Severe Neonatal-Onset Encephalopathy With Microcephaly
Seizure, Bilateral tonic-clonic seizure, Cerebral atrophy ORPHA:209370
Chromosome 22Q13 Duplication Syndrome
Short attention span, Bilateral tonic-clonic seizure, Impulsivity, Status epilepticus, Attention ... OMIM:615538
Epilepsy, Familial Temporal Lobe, 6
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... OMIM:615697
Fatty Acid Hydroxylase-Associated Neurodegeneration
Cerebellar atrophy, Bilateral tonic-clonic seizure, Focal-onset seizure, Atrophy of the spinal co... ORPHA:329308
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:600131
Developmental And Epileptic Encephalopathy 90
Bilateral tonic-clonic seizure, Abdominal pain, Focal-onset seizure, Cerebral atrophy, Focal impa... OMIM:301058
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:607681
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... OMIM:221900
Developmental And Epileptic Encephalopathy 79
Bilateral tonic-clonic seizure with generalized onset, Migrating focal seizure, Tonic seizure, My... OMIM:618559
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Mitochondrial Complex I Deficiency, Nuclear Type 13
Irritability, Bilateral tonic-clonic seizure, Focal motor seizure, Cerebral atrophy OMIM:618235
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Bilateral tonic-clonic seizure, Urinary incontinence, Focal hyperkinetic seizure, Depression, Cog... ORPHA:98784
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Absen... OMIM:612109
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Cataract, Retinal dystrophy OMIM:610156
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure ORPHA:79137
Alpers-Huttenlocher Syndrome
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Choreoathetosis, Myoclonus ORPHA:726
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Progressive neurologic deterioration, Dysmetria,... ORPHA:254881
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Bilateral tonic-clonic seizure, Inability to walk, Unsteady gait, Dysmetria, ... ORPHA:93952
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Generalized non-motor (abs... OMIM:619616
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Low-set, posteriorly rotated ears, Corneal opacity ORPHA:2370
Nathalie Syndrome
Cataract, Hearing impairment OMIM:255990
Sulfite Oxidase Deficiency, Isolated
Bilateral tonic-clonic seizure, Ataxia, Cerebral atrophy, Choreoathetosis, Agitation OMIM:272300
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... OMIM:615637
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic... OMIM:617600
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Bilateral tonic-clonic seizure, Cerebral atrophy, Choreoathetosis, Status epilep... OMIM:612164
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Severe temper tantrums, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, ... OMIM:619854
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Sensorineural heari... ORPHA:585
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset... OMIM:610042
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, S... ORPHA:3077
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure OMIM:618856
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Lissencephaly 9 With Complex Brainstem Malformation
Bilateral tonic-clonic seizure, Infantile spasms, Hypoplasia of the pons, Myoclonic seizure, Seiz... OMIM:618325
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Gait ataxia, Seizure, Status epile... ORPHA:529665
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Urinary incontinence, Typical absence seizure, Depression, Pundin... ORPHA:64280
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Low-set ears, Ocular anterior se... OMIM:615145
Cataract-Nephropathy-Encephalopathy Syndrome
Renal tubular dysfunction, Cataract ORPHA:1380
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Scheie Syndrome
Corneal opacity, Retinal degeneration OMIM:607016
Seizures, Benign Familial Infantile, 1
Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic... OMIM:601764
Maternally-Inherited Diabetes And Deafness
Renal insufficiency, Cataract, Proteinuria, Abnormal chorioretinal morphology, Sensorineural hear... ORPHA:225
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Walker-Warburg Syndrome
Retinal detachment, Hypoplasia of penis, Cataract, Corneal opacity, Posteriorly rotated ears, Cho... ORPHA:899
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Choreoathetosis, Episodic ataxia, Bilateral tonic-clonic seizure ORPHA:53583
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... OMIM:133780
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal optic disc morphology, Heari... ORPHA:65
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Osteoporosis-Pseudoglioma Syndrome
Retinal detachment, Corneal opacity, Abnormal vitreous humor morphology, Exudative vitreoretinopa... ORPHA:2788
Erythrokeratodermia Variabilis
Cataract, Corneal opacity, Hearing impairment, Protruding ear ORPHA:317
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... OMIM:212550
Houge-Janssens Syndrome 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... OMIM:618354
Epilepsy, Familial Adult Myoclonic, 2
Bilateral tonic-clonic seizure, Ataxia, Dementia, Myoclonus, Cognitive impairment OMIM:607876
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Pyruvate Dehydrogenase E1-Alpha Deficiency
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Inability to walk, Partial agenesis of ... ORPHA:79243
Lissencephaly Due To Tuba1A Mutation
Bilateral tonic-clonic seizure, Infantile spasms, Dysplastic corpus callosum, Partial agenesis of... ORPHA:171680
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Retinitis Pigmentosa 2
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... OMIM:312600
Gyrate Atrophy Of Choroid And Retina
Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Ami... ORPHA:414
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI, Arthralgia, Agenesis of corpus callosum, Cerebral atrophy ORPHA:166024
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Astigmatism, Abnormal auditory evoked potentials OMIM:617523
Exudative Vitreoretinopathy 4
Peripheral retinal avascularization, Posterior vitreous detachment, Vitreous hemorrhage, Exudativ... OMIM:601813
Joubert Syndrome 36
Molar tooth sign on MRI, Seizure OMIM:618763
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc... OMIM:600501
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Abnormal retinal... ORPHA:791
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Splenomegaly, Sensorineural hearing impairment, Corneal opacity ORPHA:93476
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Mixed hearing impairment, Hepatosplen... ORPHA:309288
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Hydroureter, Megaloblastic anemia, Sensorineural hearing impairment, Optic ... OMIM:598500
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Rod-cone dystrophy, Cataract OMIM:619082
Harel-Yoon Syndrome
Optic atrophy, Corneal opacity, Developmental cataract OMIM:617183
Mucolipidosis Type Iv
Retinopathy, Abnormality of retinal pigmentation, Corneal opacity, EEG abnormality ORPHA:578
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Inability to walk, Seizure, Hypoplas... ORPHA:481152
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Myoclonic seizure, Abnormal r... OMIM:619877
Craniotelencephalic Dysplasia
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia OMIM:218670
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Xk Aprosencephaly Syndrome
Microphthalmia, Polyhydramnios ORPHA:3469
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... OMIM:614170
Cataracts, Spastic Paraparesis, And Speech Delay
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:619338
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Cataract, Corneal opacity OMIM:613153
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality OMIM:617519
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Foca... ORPHA:163681
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic s... ORPHA:98795
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy, 3-Methylglutaconic aciduria ORPHA:496790
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Exercise intolerance, Lethargy, Bilateral tonic-clonic seizure, Gait imbalance OMIM:618120
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Cataract 47
Microcornea, Cataract, Glycosuria OMIM:612018
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Bilateral tonic-clonic seizure, Confusion, Focal motor seizure, Dysmetria, Ga... OMIM:602481
Bilateral Polymicrogyria
Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, ... ORPHA:268940
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Corneal opacity, Unilateral renal agenesis, Acute leukemia ORPHA:281090
D-2-Hydroxyglutaric Aciduria 1
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Seizure, Late... OMIM:600721
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Atrophy of the spinal cord, Mental d... ORPHA:395
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Autosomal Recessive Stickler Syndrome
Retinal detachment, Cataract, Sensorineural hearing impairment, Astigmatism, Vitreoretinopathy ORPHA:250984
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Brain Small Vessel Disease 2
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614483
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Zellweger Syndrome
Multicystic kidney dysplasia, Cataract, Corneal opacity, Hypospadias, Abnormal chorioretinal morp... ORPHA:912
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Depression, Seizure, Gait disturbance, Abnormal repetitive manner... ORPHA:457240
Intermediate Uveitis
Cataract, Macular scar, Band keratopathy, Vitreous haze, Epiretinal membrane, Vitreous floaters, ... ORPHA:279914
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Progressive neur... OMIM:254780
Developmental And Epileptic Encephalopathy 106
Focal clonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure OMIM:620028
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia OMIM:618660
3-Methylglutaconic Aciduria Type 4
Cataract, Iris hypopigmentation, 3-Methylglutaconic aciduria, Thrombocytopenia, Hearing impairment ORPHA:67048
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... ORPHA:67043
Combined Oxidative Phosphorylation Deficiency 27
Cerebellar atrophy, Bilateral tonic-clonic seizure, Cerebral atrophy, Status epilepticus, Myoclon... OMIM:616672
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele ORPHA:1528
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... ORPHA:98963
Mmep Syndrome
Microphthalmia ORPHA:3434
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Status epilepticus OMIM:613970
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Cataract, Corneal opacity, Optic atrophy, Hepatosplenomegaly, Developmen... ORPHA:93400
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Sensorineural hearing impai... OMIM:268315
Alpha-Mannosidosis
Cataract, Corneal opacity, Splenomegaly, Abnormal helix morphology, Macrotia, Hearing impairment ORPHA:61
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Abnormal re... ORPHA:1215
Ritscher-Schinzel Syndrome 4
Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Aggressive behavior, Focal-onset seizure, Ab... OMIM:619435
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Microphthalmia With Brain And Digit Anomalies
Cataract, Retinal dystrophy, Sclerocornea, Sensorineural hearing impairment, Microcornea, Chorior... ORPHA:139471
Lcat Deficiency
Hemolytic anemia, Renal insufficiency, Corneal opacity, Proteinuria, Stage 5 chronic kidney disea... ORPHA:650
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Bilateral tonic-clonic seizure OMIM:240900
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Microphthalmia OMIM:613885
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:616281
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Decreased nerve conduction velocity, Rod-cone dystrophy, Sensorineural hearing impairme... OMIM:612674
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Cerebral atrophy, Seizure, Inappropriate behavior, Neurodegenerat... ORPHA:309246
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormally... OMIM:109120
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Bilateral tonic-clonic seizure, Urinary incontinence, Infantile spasms, Tonic seiz... OMIM:300912
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Fatigue, Bilateral tonic-clonic seizure, Ataxia, Exercise-induced myalgia, Lethargy, Febrile seiz... ORPHA:42
Bardet-Biedl Syndrome 9
Renal insufficiency, Bone spicule pigmentation of the retina, Cataract, Astigmatism, Rod-cone dys... OMIM:615986
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema OMIM:618773
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Conductive hearing impairment, Cataract, Retinal thinning, Asteroid hyalosis OMIM:132450
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Corneal opacity, Stage 5 chronic kidney disease, Proteinuria OMIM:166300
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Cataract, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Generalized non-motor (absen... ORPHA:457351
Juvenile Sialidosis Type 2
Cataract, Corneal opacity, Optic atrophy, Hepatosplenomegaly, Low-set ears, Cherry red spot of th... ORPHA:93399
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Dementia, Bilateral tonic-clonic seizure OMIM:540000
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... ORPHA:98962
Joubert Syndrome 13
Molar tooth sign on MRI OMIM:614173
Papillorenal Syndrome
Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Optic disc... OMIM:120330
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Occipital encephalocele ORPHA:324416
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... ORPHA:263479
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Cerebellar atrophy, Restlessness, Bilateral tonic-clonic seizure, Infantile spasms, Seizure, Irri... ORPHA:544503
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Corneal opacity, Optic nerve hypoplasia, Hypospadias, Posteriorly rotated ears, Leukopenia, Large... OMIM:301056
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Scheie Syndrome
Corneal opacity, Splenomegaly, Sensorineural hearing impairment, Mucopolysacchariduria, Abnormal ... ORPHA:93474
Septopreoptic Holoprosencephaly
Short attention span, Abnormal midbrain morphology, Impulsivity, Hypoplasia of the pons, Dysphagia ORPHA:280195
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Cerebellar atrophy, Epileptic spasm, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Ur... OMIM:617193
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Developmental And Epileptic Encephalopathy 95
Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Hypoplasia of th... OMIM:618143
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Bartsocas-Papas Syndrome 2
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Low-set ears, Overfolded helix, Axil... OMIM:619339
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Cataract, Urinary incontinence, Rod-cone dystrophy, Opti... OMIM:609033
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Dysplastic corpus callosum,... ORPHA:488627
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
De Sanctis-Cacchione Syndrome
Bilateral tonic-clonic seizure, Ataxia, Axonal degeneration, Scissor gait, Defective DNA repair a... OMIM:278800
Stromme Syndrome
Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Bilateral renal hypoplasia, Mic... OMIM:243605
Stickler Syndrome Type 1
Retinal detachment, Sensorineural hearing impairment, Cataract, Abnormal vitreous humor morphology ORPHA:90653
Joubert Syndrome 20
Molar tooth sign on MRI, Inability to walk, Self-mutilation, Aggressive behavior OMIM:614970
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Pierson Syndrome
Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the cili... OMIM:609049
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, Tonic seizure, Focal hemiclonic seizure, Seizure, Myoclonus, Febrile seizure (... OMIM:616973
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Rod-cone dystrophy, Cataract, Retinal coloboma OMIM:601794
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Cataract, Hydroureter, Megaloblastic anemia, Sensorineu... OMIM:222300
Oculocerebrocutaneous Syndrome
Microphthalmia, Orbital encephalocele, Anophthalmia OMIM:164180
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Impaired toileting ability, Bilateral tonic-clonic seizure, Head-banging OMIM:619356
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Rod-cone dystrophy, Cataract, Retinal coloboma ORPHA:363741
Oculocerebral Hypopigmentation Syndrome, Cross Type
Ureteral stenosis, Cataract, Corneal opacity, Sensorineural hearing impairment, Ocular albinism, ... ORPHA:2719
Multiple Sulfatase Deficiency
Corneal opacity, Splenomegaly, Mucopolysacchariduria, Retinal degeneration, Hearing impairment OMIM:272200
Intellectual Developmental Disorder, Autosomal Dominant 34
Abnormal repetitive mannerisms, Broad-based gait, Bilateral tonic-clonic seizure, Bruxism OMIM:616351
Isolated Aniridia
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Jaberi-Elahi Syndrome
Broad-based gait, Bilateral tonic-clonic seizure, Inability to walk, Dysmetria, Gait ataxia, Chor... OMIM:617988
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation, Bilateral tonic-clonic seizure OMIM:619278
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
D-Glyceric Aciduria
Bilateral tonic-clonic seizure, Tongue thrusting, Seizure, Status epilepticus, Focal clonic seizu... OMIM:220120
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Hypoglycemic seizu... ORPHA:480864
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Focal impaired awareness seizur... OMIM:619983
3-Methylglutaconic Aciduria, Type Viia
Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Myoclonic seizure,... OMIM:619835
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Retinal pigment epithelial mottling, Stage 5 chronic kidney disease, Corneal crystal... OMIM:219900
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Aggressive behavior OMIM:616083
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Polyhydramnios ORPHA:2547
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Prelingual sensorineural h... ORPHA:52368
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity, Unilateral renal agenesis ORPHA:1064
Cystinosis
Renal insufficiency, Corneal opacity, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Neph... ORPHA:213
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Brachyolmia Type 1, Toledo Type
Increased urinary disaccharide excretion, Opacification of the corneal stroma OMIM:271630
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617468
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Cataract, Hypospadias ORPHA:1381
Canavan Disease
Epileptic spasm, Bilateral tonic-clonic seizure, Brain atrophy OMIM:271900
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cataract, Cochlear degeneration ORPHA:3233
Japanese Encephalitis
Fatigue, Rigors, Abnormal substantia nigra morphology, Bilateral tonic-clonic seizure, Abnormal m... ORPHA:79139
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Protruding ear, Microcornea, Keratoconjunctivitis sicc... ORPHA:1806
Sandhoff Disease, Infantile Form
Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclonus, Cerebral cortical atrophy ORPHA:309155
Congenital Toxoplasmosis
Microphthalmia, Ascites ORPHA:858
Choreoacanthocytosis
Caudate atrophy, Compulsive behaviors, Loss of ambulation, Self-mutilation of tongue and lips due... ORPHA:2388
Cofs Syndrome
Microphthalmia ORPHA:1466
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Posteriorly rotated ears, Corneal opacity, Keratitis, Microtia, Conjunctivitis OMIM:602562
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g... OMIM:265300
Joubert Syndrome 9
Cataract, Stage 5 chronic kidney disease, Astigmatism, Retinal dystrophy OMIM:612285
Melas
Exercise intolerance, Short attention span, Bilateral tonic-clonic seizure, Ataxia, Focal-onset s... ORPHA:550
Developmental And Epileptic Encephalopathy 100
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... OMIM:619777
Nance-Horan Syndrome
Microcornea, Retinal detachment, Cataract, Protruding ear ORPHA:627
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Developmental And Epileptic Encephalopathy 18
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... OMIM:615476
Short Syndrome
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Sensorineural hearing impairme... ORPHA:3163
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Waddling gait, Bilateral tonic-clonic seizure, Myalgia, Difficulty walking, Truncal ataxia ORPHA:369840
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, M... ORPHA:85167
17Q12 Microduplication Syndrome
Microphthalmia, Polyhydramnios ORPHA:261272
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Cataract, Corneal opacity, Retinal atrophy, Optic nerve hypoplasia, Optic atr... OMIM:236670
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Dysplastic corpus callosum, Clonic ... OMIM:617281
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Dk1-Cdg
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:91131
Schimke Immuno-Osseous Dysplasia
Lymphopenia, Corneal opacity, Proteinuria, Minimal change glomerulonephritis, Thrombocytopenia, S... ORPHA:1830
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Cerebral atrophy, Agenes... OMIM:615802
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Peroxisome Biogenesis Disorder 10B
Neurogenic bladder, Cataract, Posteriorly rotated ears, Nephrocalcinosis, Low-set ears OMIM:617370
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Cataract, Proteinuria, Corneal erosion, Stage 5 chronic kidney disease, Hema... OMIM:203780
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Renal insufficiency, Cataract, Proteinuria, Optic atrophy, P... ORPHA:90321
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Axonal degeneration, Neurodegeneration, Myoclonic spasms, Diffuse... ORPHA:478029
Early Infantile Epileptic Encephalopathy
Cerebellar atrophy, Diffuse cerebral atrophy, Hyperactivity, Bilateral tonic-clonic seizure, Infa... ORPHA:1934
Coenzyme Q10 Deficiency, Primary, 3
Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus OMIM:614652
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Bilateral tonic-clonic seizure, Inability to walk, Generalized non-motor (absence) seizure, Myocl... OMIM:614207
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Unilateral renal agenesis, Protruding ear, Developmental cataract, Low-set ears OMIM:616603
Enhanced S-Cone Syndrome
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis OMIM:268100
8Q21.11 Microdeletion Syndrome
Hypoplasia of penis, Cataract, Corneal opacity, Sclerocornea, Hearing impairment, Low-set ears, I... ORPHA:284160
Lissencephaly 8
Microphthalmia, Occipital encephalocele OMIM:617255
Refsum Disease, Classic
Cataract, Retinal degeneration, Sensorineural hearing impairment, Rod-cone dystrophy, Abnormal re... OMIM:266500
Mietens Syndrome
Microcornea, Cataract, Corneal opacity, Sclerocornea ORPHA:2557
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Adult Krabbe Disease
Broad-based gait, Abnormal medulla oblongata morphology, Ataxia, Urinary incontinence, Abnormal m... ORPHA:206448
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Bilateral tonic-clonic seizure, Urinary incontinence, Brain atrophy, Myoclonic seizure OMIM:620070
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebellar atrophy, Bilateral tonic-clonic seizure, Urinary incontinence, Bowel incontinence, Ata... ORPHA:496641
Developmental And Epileptic Encephalopathy 8
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Tonic seizure OMIM:300607
X-Linked Intellectual Disability Due To Gria3 Mutations
Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Status epilepticus, Myoclonus, Self... ORPHA:364028
Fish-Eye Disease
Splenomegaly, Corneal opacity ORPHA:79292
Hartsfield Syndrome
Encephalocele, Microphthalmia ORPHA:2117
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizu... OMIM:615398
Slc35A2-Cdg
Cerebellar atrophy, Abnormal midbrain morphology, Infantile spasms, Inability to walk, Cerebral a... ORPHA:356961
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Proteinuria, Abnormal T cell morphology, Nephrotic syndrome, Mucopolysacchariduria, Opacification... OMIM:215250
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abdominal pain, Abnormal fear-induced behavior, Depression, Agitation, D... ORPHA:100924
Amish Lethal Microcephaly
Irritability, Agenesis of corpus callosum, Bilateral tonic-clonic seizure ORPHA:99742
3P25.3 Microdeletion Syndrome
Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Attention defici... ORPHA:435638
Pierpont Syndrome
Microphthalmia ORPHA:487825
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Familial Dysautonomia
Renal insufficiency, Orthostatic hypotension, Corneal opacity, Abnormal pupil morphology, Corneal... ORPHA:1764
Galactosialidosis
Conjunctival telangiectasia, Hepatosplenomegaly, Opacification of the corneal stroma, Cherry red ... OMIM:256540
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Bilateral tonic-clonic seizure, Seizure, Athetosis, Focal impaired awareness seizure, Polydipsia,... ORPHA:369929
Vogt-Koyanagi-Harada Disease
Retinal detachment, Sensorineural hearing impairment, Cataract ORPHA:3437
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Urinary incontinence, Infantile spasms, Hair-pulli... ORPHA:447997
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Nephropathy, Corneal opacity, Proteinuria ORPHA:1765
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Brushfield spots, Optic nerve dysplasia, Pigmentary retinopathy, Aminoaciduria, Hypopla... OMIM:214110
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... ORPHA:649
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Chromosome Xp11.3 Deletion Syndrome
Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop... OMIM:300578
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:617127
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearin... ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearin... ORPHA:529799
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Inability to walk, Seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure ORPHA:488613
Joubert Syndrome 4
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Ataxia, Thickened superior cereb... OMIM:609583
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals OMIM:210370
Hurler Syndrome
Corneal opacity, Heparan sulfate excretion in urine, Splenomegaly, Dermatan sulfate excretion in ... OMIM:607014
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Vi... ORPHA:280921
Pierpont Syndrome
Microphthalmia OMIM:602342
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized myoclonic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure, Hypopla... OMIM:615501
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Meckel Syndrome, Type 5
Microphthalmia, Occipital encephalocele, Anencephaly OMIM:611561
Sandhoff Disease
Ataxia, Urinary incontinence, Bilateral tonic-clonic seizure, Progressive psychomotor deteriorati... OMIM:268800
Alternating Hemiplegia Of Childhood
Bilateral tonic-clonic seizure, Ataxia, Progressive neurologic deterioration, Anorexia, Oral-phar... ORPHA:2131
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Thickened heli... ORPHA:2714
Joubert Syndrome 25
Molar tooth sign on MRI, Ataxia OMIM:616781
Gm1 Gangliosidosis
Corneal opacity, Abnormal retinal vascular morphology, Splenomegaly, Optic atrophy, Hepatosplenom... ORPHA:354
Atopic Keratoconjunctivitis
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization ORPHA:163934
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Athetos... ORPHA:79351
Joubert Syndrome 30
Cerebellar atrophy, Seizure, Molar tooth sign on MRI OMIM:617622
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor OMIM:619649
Otodental Syndrome
High-frequency sensorineural hearing impairment, Cataract, Lens coloboma, Microcornea, Retinal co... ORPHA:2791
Cockayne Syndrome A
Renal insufficiency, Cataract, Retinal atrophy, Proteinuria, Abnormal auditory evoked potentials,... OMIM:216400
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... ORPHA:98957
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced myalgia, Lethargy, Bilateral tonic-clonic seizure, Sudden cardiac death OMIM:201475
Intellectual Developmental Disorder, Autosomal Dominant 54
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Inability to wal... OMIM:617799
Farber Disease
Corneal opacity, Thrombocytopenia, Hepatosplenomegaly, Macular degeneration, Abnormal conjunctiva... ORPHA:333
Wagro Syndrome
Cataract, Corneal opacity, Proteinuria, Low-set ears, Aniridia OMIM:612469
Autosomal Recessive Cutis Laxa Type 2A
Abnormal cornea morphology, Corneal opacity, Hearing impairment ORPHA:357058
3Mc Syndrome 3
Corneal opacity, Abnormal pinna morphology, Horseshoe kidney, Auricular pit, Micropenis, Penoscro... OMIM:248340
Hydrolethalus
Microphthalmia, Anophthalmia, Anencephaly, Polyhydramnios ORPHA:2189
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Mi... OMIM:614643
Sympathetic Ophthalmia
Papilledema, Retinal detachment, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... ORPHA:79098
Lowry-Maclean Syndrome
Corneal opacity, Hypospadias, Developmental glaucoma, Low-set ears, Megalocornea ORPHA:2409
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Glass Syndrome
Restlessness, Hyperactivity, Broad-based gait, Bilateral tonic-clonic seizure, Aggressive behavio... OMIM:612313
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Congenital Insensitivity To Pain With Severe Intellectual Disability
Bilateral tonic-clonic seizure, Self-mutilation ORPHA:453510
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Sensorineural hearing impairment, Acute le... ORPHA:3226
Warburg Micro Syndrome 3
Inability to walk, Bilateral tonic-clonic seizure, Cerebral cortical atrophy, Myoclonic seizure OMIM:614222
Cockayne Syndrome B
Renal insufficiency, Proteinuria, Abnormal pinna morphology, Abnormal auditory evoked potentials,... OMIM:133540
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea, Sensorineural hearing impairment, Protruding ear, Pigmentary retinopathy,... OMIM:614230
Al-Gazali Syndrome
Corneal opacity, Hydronephrosis, Sclerocornea OMIM:609465
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Oligohydramnios OMIM:619053
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Corneal opacity, Abnormality of cartilage of external ear, Cupped ear, Low-set ears, Co... ORPHA:2399
Rodrigues Blindness
Microcornea, Sclerocornea, Protruding ear OMIM:268320
Microphthalmia, Syndromic 5
Cataract, Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Micropenis OMIM:610125
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Aqueductal stenosis, Hypoplasia of ... OMIM:619512
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Mucopolysaccharidosis Type 3
Mixed hearing impairment, Cataract, Corneal opacity, Thickened helices, Abnormality of the middle... ORPHA:581
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Umbilical hernia, Edema ORPHA:2505
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:618381
Insensitivity To Pain, Congenital, With Anhidrosis
Postural hypotension with compensatory tachycardia, Keratitis, Corneal scarring, Abnormal autonom... OMIM:256800
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Incontinentia Pigmenti
Retinal detachment, Cataract, Corneal opacity, Eosinophilia, Abnormal chorioretinal morphology, K... ORPHA:464
Mucopolysaccharidosis Type 1
Corneal opacity, Splenomegaly, Sensorineural hearing impairment, Optic atrophy, Mucopolysaccharid... ORPHA:579
Frontonasal Dysplasia 1
Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele OMIM:136760
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia OMIM:615181
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Retinal detachment, Optic disc pallor, Corneal opacity, Hypospadias, Unilateral renal agenesis, R... ORPHA:464311
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Chromosome 6Pter-P24 Deletion Syndrome
Posteriorly rotated ears, Sensorineural hearing impairment, Pigmentary retinopathy, Axenfeld anom... OMIM:612582
Amoebiasis Due To Free-Living Amoebae
Restlessness, Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain morphology, Confus... ORPHA:68
Oculocerebrocutaneous Syndrome
External ear malformation, Corneal opacity, Iris coloboma, Hearing impairment ORPHA:1647
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Microphthalmia, Oligohydramnios ORPHA:228390
Temtamy Syndrome
Microphthalmia ORPHA:1777
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Hypospadias, Sclerocornea, Iris coloboma, Hearing impairment ORPHA:77298
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Pelvis-Shoulder Dysplasia
Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma OMIM:169550
Joubert Syndrome 31
Molar tooth sign on MRI, Truncal ataxia OMIM:617761
Sanjad-Sakati Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Corneal opacity, External ear malformatio... ORPHA:2323
Joubert Syndrome 3
Molar tooth sign on MRI, Lateral ventricle dilatation, Ataxia, Elongated superior cerebellar pedu... OMIM:608629
Lymphatic Malformation 6
Genital edema, Short stature, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Per... OMIM:616843
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Hurler-Scheie Syndrome
Heparan sulfate excretion in urine, Splenomegaly, Corneal opacity, Dermatan sulfate excretion in ... OMIM:607015
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Dehydration OMIM:214150
Hyperekplexia 3
Bilateral tonic-clonic seizure, Myoclonus OMIM:614618
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Mosaic Trisomy 8
Corneal opacity, Abnormal pinna morphology, Protruding ear, Abnormal antihelix morphology, Vesico... ORPHA:96061
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Intellectual Developmental Disorder, Autosomal Dominant 53
Bilateral tonic-clonic seizure, Unsteady gait, Generalized non-motor (absence) seizure, Irritabil... OMIM:617798
Meckel Syndrome, Type 2
Encephalocele, Microphthalmia, Meningocele, Anencephaly OMIM:603194
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:618316
Joubert Syndrome 27
Molar tooth sign on MRI, Ataxia, Gait ataxia OMIM:617120
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Neuromuscular Oculoauditory Syndrome
Unsteady gait, Agenesis of corpus callosum, Infantile spasms, Bilateral tonic-clonic seizure OMIM:618733
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Corneal opacity, Ectopia lentis, Horseshoe kidney, Hypoplasia of th... ORPHA:2092
Pelger-Huet Anomaly
Seizure, Bilateral tonic-clonic seizure OMIM:169400
Schimke Immunoosseous Dysplasia
Renal insufficiency, Pancytopenia, Proteinuria, Thrombocytopenia, Stage 5 chronic kidney disease,... OMIM:242900
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Mucolipidosis Iii Alpha/Beta
Opacification of the corneal stroma, Retinal degeneration, Retinopathy, Hyperopic astigmatism OMIM:252600
Molybdenum Cofactor Deficiency, Complementation Group B
Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Cerebral atrophy, Seizure, Irritability... OMIM:252160
Meckel Syndrome 13
Molar tooth sign on MRI, Ataxia OMIM:617562
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Joubert Syndrome 22
Microphthalmia OMIM:615665
Fucosidosis
Mucopolysacchariduria, Corneal opacity, Hearing impairment ORPHA:349
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
Leiomyomatosis, Diffuse, With Alport Syndrome
High-frequency sensorineural hearing impairment, Renal insufficiency, Cataract, Proteinuria, Sens... OMIM:308940
Monosomy 18P
Microphthalmia, Lymphedema ORPHA:1598
Joubert Syndrome 33
Molar tooth sign on MRI, Ataxia OMIM:617767
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Adams-Oliver Syndrome 2
Microphthalmia, Oligohydramnios OMIM:614219
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Low-set ears, Aniridia, Iris coloboma, Hearing impairment ORPHA:251038
Joubert Syndrome 10
Molar tooth sign on MRI OMIM:300804
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Hypospadias, Sclerocornea, Pigmentary retinopathy, Chordee, Peters anomaly, Micropenis,... OMIM:309801
Axenfeld-Rieger Syndrome, Type 2
Hypospadias, Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae, Hearin... OMIM:601499
Mucopolysaccharidosis, Type Ivb
Corneal opacity, Opacification of the corneal stroma, Chondroitin sulfate excretion in urine, Ker... OMIM:253010
Trisomy 13
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia, Hydrops fetalis ORPHA:3378
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Urinary incontinence, Optic nerve hypoplasia, Decreased nerv... ORPHA:101085
Schimmelpenning-Feuerstein-Mims Syndrome
Hyperphosphaturia, Corneal opacity, Horseshoe kidney OMIM:163200
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk by childhood/adolescence, Gen... OMIM:620224
Hurler Syndrome
Corneal opacity, Splenomegaly, Mucopolysacchariduria, Abnormal nerve conduction velocity, Retinop... ORPHA:93473
Biotinidase Deficiency
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Focal motor seizure, Seizure, Generaliz... ORPHA:79241
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Mitochondrial Dna-Associated Leigh Syndrome
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Abnormality of Krebs cycle metabolism, ... ORPHA:255210
1Q44 Microdeletion Syndrome
Agenesis of corpus callosum, Bilateral tonic-clonic seizure ORPHA:238769
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Corneal opacity, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhage, ... OMIM:175780
Fabry Disease
Conjunctival telangiectasia, Renal insufficiency, Cataract, Corneal opacity, Corneal dystrophy, P... ORPHA:324
Cerebrotendinous Xanthomatosis
Optic disc pallor, Optic neuropathy, Abnormal auditory evoked potentials, Decreased nerve conduct... ORPHA:909
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Joubert Syndrome 7
Molar tooth sign on MRI, Hypoplasia of the brainstem, Ataxia, Brainstem dysplasia OMIM:611560
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... ORPHA:206436
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma, Umbilical hernia OMIM:618914
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Pseudo-Torch Syndrome 1
Renal insufficiency, Cataract, Splenomegaly, Opacification of the corneal stroma, Low-set ears, T... OMIM:251290
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Abnormality of retinal pigmentation, Corneal opacity, Hypospadias, Scl... ORPHA:2556
Joubert Syndrome 28
Molar tooth sign on MRI, Ataxia OMIM:617121
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Agenesis of corpus callosum, Brain atrophy OMIM:607131
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Cerebral atrophy, Seizure, Myoclonus,... OMIM:618426
Mucoepithelial Dysplasia, Hereditary
Cataract, Eosinophilia, Keratoconjunctivitis, Hematuria, Opacification of the corneal stroma, Cor... OMIM:158310
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia, Increased nuchal translucency, Oligohydramnios OMIM:618494
Joubert Syndrome 6
Ataxia, Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated superior cerebellar pedun... OMIM:610688
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Inability to walk,... OMIM:620066
Coach Syndrome 2
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:619111
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb... OMIM:226990
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Mosaic Trisomy 9
Hypoplasia of penis, Corneal opacity, Asplenia, Horseshoe kidney, Multiple renal cysts, Low-set e... ORPHA:99776
Joubert Syndrome With Renal Defect
Ataxia, Seizure, Gait disturbance, Molar tooth sign on MRI, Agenesis of corpus callosum ORPHA:220497
Cystinosis, Adult Nonnephropathic
Abnormal retinal morphology, Corneal crystals OMIM:219750
Lujo Hemorrhagic Fever
Rigors, Bilateral tonic-clonic seizure, Confusion, Seizure, Chest pain, Abdominal cramps, Myalgia... ORPHA:319213
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Corneal opacity, Hypospadias, Unilateral renal agenesis, Macrotia, Renal cyst,... ORPHA:464306
Gracile Bone Dysplasia
Aniridia, Microphthalmia, Ascites OMIM:602361
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Atresia of the external auditory canal, Opacification of the corneal stroma OMIM:601356
Hyperphosphatasia-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Ataxia, Seizure, Gait disturbance, Myoclonus ORPHA:247262
Carpenter Syndrome 1
Hydroureter, Abnormal pinna morphology, Sensorineural hearing impairment, Optic atrophy, Microcor... OMIM:201000
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:614120
Mitochondrial Trifunctional Protein Deficiency 2
Seizure, Myalgia, Bilateral tonic-clonic seizure OMIM:620300
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Meckel Syndrome, Type 4
Encephalocele, Microphthalmia, Meningocele, Anencephaly OMIM:611134
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Hypochromic microcytic anemia, Vestibular areflexia, Thrombo... ORPHA:3240
Mucopolysaccharidosis Type 7
Splenomegaly, Mucopolysacchariduria, Corneal opacity ORPHA:584
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Cataract, Hypospadias, Posteriorly rotated ears, Brushfield spots, Sensorineur... OMIM:214100
Alpha-Mannosidosis, Infantile Form
Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Mixed hearing impairment, Sensorineur... ORPHA:309282
Mucopolysaccharidosis, Type Vii
Corneal opacity, Heparan sulfate excretion in urine, Splenomegaly, Sensorineural hearing impairme... OMIM:253220
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Cockayne Syndrome Type 3
Microcornea, Lentiglobus, Adult onset sensorineural hearing impairment, Conductive hearing impair... ORPHA:90324
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h... ORPHA:637
Fryns Syndrome
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Corneal opacity, Hypospadias, Ag... ORPHA:2059
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract OMIM:221800
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked... ORPHA:99027
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Gen... OMIM:614756
Lathosterolosis
Hypoplasia of penis, Cataract, Anisopoikilocytosis, Horseshoe kidney, Abnormal platelet morpholog... ORPHA:46059
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Chylothorax, Micropht... OMIM:153400
Mucopolysaccharidosis Type 4
Mucopolysacchariduria, Corneal opacity, Hearing impairment ORPHA:582
Knobloch Syndrome
Retinal detachment, Cataract, Ectopia lentis, Abnormal vitreous humor morphology, Macular degener... ORPHA:1571
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Joubert Syndrome 18
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:614815
Coach Syndrome 3
Molar tooth sign on MRI, Ataxia OMIM:619113
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Hypospadias, Sclerocornea, Microcornea, Ectopia pupillae OMIM:615877
Hermansky-Pudlak Syndrome 10
Cerebral atrophy, Bilateral tonic-clonic seizure, Focal myoclonic seizure OMIM:617050
Joubert Syndrome 15
Molar tooth sign on MRI, Ataxia OMIM:614464
Cocaine Intoxication
Bilateral tonic-clonic seizure, Abdominal pain, Flank pain, Focal-onset seizure, Atypical absence... ORPHA:90068
Meckel Syndrome
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Cataract, Low-set, posterio... ORPHA:564
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Protruding ear, Anemia, Developmental cataract, Vitreous... OMIM:620185
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cataract, Hypospadias, Brushfield spots, Splenomegaly, Sensorineural hearing impairment, Optic ne... OMIM:614866
Seckel Syndrome 2
Microphthalmia OMIM:606744
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Otosclerosis, Corneal opacity, Decreased nerve ... ORPHA:580
Chime Syndrome
Corneal opacity, Acute leukemia, Retinal coloboma, Hydronephrosis, Hearing impairment ORPHA:3474
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s... OMIM:301091
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Joubert Syndrome 32
Molar tooth sign on MRI, Ataxia OMIM:617757
De Barsy Syndrome
Cataract, Corneal opacity, Large earlobe, Bilateral sensorineural hearing impairment, Low-set ear... ORPHA:2962
Encephalocraniocutaneous Lipomatosis
Sclerocornea, Hypoplasia of the iris, Limbal dermoid, Pelvic kidney, Hydronephrosis OMIM:613001
Proboscis Lateralis
Cataract, Corneal opacity, Optic nerve hypoplasia, Unilateral renal agenesis, Optic disc coloboma... ORPHA:141099
Joubert Syndrome With Ocular Defect
Ataxia, Seizure, Gait disturbance, Molar tooth sign on MRI, Agenesis of corpus callosum ORPHA:220493
Weaver Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Lateral ventric... OMIM:277590
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Wilson Disease
Splenomegaly, Kayser-Fleischer ring, Thrombocytopenia, Anemia ORPHA:905
Oculocerebrorenal Syndrome Of Lowe
Chorioretinal dysplasia, Abnormal pupil morphology, Oligosacchariduria, Nephrocalcinosis, Protrud... ORPHA:534
Bresek Syndrome
Microphthalmia, Optic nerve hypoplasia ORPHA:85284
Histiocytoid Cardiomyopathy
Corneal opacity, Optic atrophy, Renal cyst, Megalocornea, Congenital aphakia ORPHA:137675
Microphthalmia, Syndromic 3
Optic nerve aplasia, Cataract, Hypospadias, Optic nerve hypoplasia, Sclerocornea, Sensorineural h... OMIM:206900
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele OMIM:607597
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Athetosis, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:615474
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Bilateral tonic-clonic seizure ORPHA:79350
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Occipital encephalocele, Optic nerve hypoplasia ORPHA:370959
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hepatosplen... ORPHA:79330
Tangier Disease
Splenomegaly, Facial diplegia, Opacification of the corneal stroma OMIM:205400
Kinsship Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo... OMIM:619297
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absence) seizure, Sei... ORPHA:466943
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Abnormality of retinal pigmentation, Otosclerosis, Corneal opacity, Heparan sulfate ... ORPHA:217085
Joubert Syndrome 1
Hemifacial spasm, Hyperactivity, Ataxia, Brainstem dysplasia, Aggressive behavior, Hypoplasia of ... OMIM:213300
Gorlin-Chaudhry-Moss Syndrome
Conductive hearing impairment, Astigmatism, Sclerocornea ORPHA:2095
Joubert Syndrome 35
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Ataxia OMIM:618161
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Abnormality of retinal pigmentation, Otosclerosis, Corneal opacity, Heparan sulfate ... ORPHA:217093
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Bilateral tonic-clonic seizure, Simple febrile seizure, Aggressive behavior, Typical absence seiz... ORPHA:466950
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Corneal opacity, Optic nerve hypoplasia, Corneal dystrophy, Hypospadias, Renal cyst, Buphthalmos,... ORPHA:495875
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Sensorineural hearing impairment, Corneal opacity, Hypermyelinated retinal... OMIM:601812
Heart And Brain Malformation Syndrome
Microphthalmia, Polyhydramnios OMIM:616920
Mucolipidosis Iii Gamma
Opacification of the corneal stroma OMIM:252605
Mosaic Variegated Aneuploidy Syndrome
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Cataract, Corneal opacity, Acute... ORPHA:1052
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Nivelon-Nivelon-Mabille Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:600092
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad-based gait, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Typical absence se... ORPHA:268261
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Cataract, Proteinuria, Optic atrophy, Hypoplasi... OMIM:251300
Joubert Syndrome 37
Microphthalmia OMIM:619185
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Seizure, Abnormal repetitive mannerisms, Bilateral tonic-clonic seizure, Cerebral atrophy OMIM:301040
Gomez-Lopez-Hernandez Syndrome
Low-set ears, Posteriorly rotated ears, Opacification of the corneal stroma OMIM:601853
Mucopolysaccharidosis Type 6
Splenomegaly, Mucopolysacchariduria, Opacification of the corneal stroma, Hearing impairment ORPHA:583
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Cataract, Corneal opacity, Eosinophilia, Thrombocytopenia, Leukocytosis, Ho... OMIM:274000
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Mosaic Variegated Aneuploidy Syndrome 1
Generalized myoclonic seizure, Seizure, Agenesis of corpus callosum, Bilateral tonic-clonic seizure OMIM:257300
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... ORPHA:171929
Joubert Syndrome 40
Molar tooth sign on MRI OMIM:619582
Tbck-Related Intellectual Disability Syndrome
Neurogenic bladder, Corneal opacity, EEG with generalized epileptiform discharges, Sensorineural ... ORPHA:488632
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Bilateral tonic-clonic seizure ORPHA:423479
Frontofacionasal Dysplasia
Encephalocele, Microphthalmia ORPHA:1791
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Retinal atrophy, Optic atrophy, Buphthalmos, EEG abnormality, Hypoplasia of the retina,... OMIM:253280
W Syndrome
Bilateral tonic-clonic seizure ORPHA:2804
Spondylodysplastic Ehlers-Danlos Syndrome
Low-set, posteriorly rotated ears, Corneal opacity, Optic nerve hypoplasia, Posterior subcapsular... ORPHA:536471
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Broad-based gait, Bilateral tonic-clonic seizure, Aggressive behavior, Hair-pulling,... OMIM:620330
Bone Marrow Failure Syndrome 5
Bilateral tonic-clonic seizure OMIM:618165
Combined Oxidative Phosphorylation Deficiency 3
Cognitive impairment, Seizure, Bilateral tonic-clonic seizure, Ataxia OMIM:610505
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Chronic myelogenous leukemia, Cho... ORPHA:636
Temtamy Syndrome
Microphthalmia OMIM:218340
Relapsing Fever
Neutrophilia, Thrombocytopenia, Leukocytosis, Hematuria, Leukopenia, Acute kidney injury, Anemia ORPHA:91547
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Cerebellar atrophy, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Gene... ORPHA:369837
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Cataract, Transient neutropenia, Chronic neutropenia, Macrotia, Sen... ORPHA:500095
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Umbilical hernia, Bilateral microphthalmos ORPHA:369891
Gaucher Disease
Pancytopenia, Corneal opacity, Proteinuria, Splenomegaly, Abnormal macular morphology, Hematuria,... ORPHA:355
Combined Oxidative Phosphorylation Deficiency 15
Ataxia, Bilateral tonic-clonic seizure with focal onset, Progressive neurologic deterioration, Un... OMIM:614947
Joubert Syndrome 2
Ataxia, Brainstem dysplasia, Seizure, Hypoplasia of the brainstem, Molar tooth sign on MRI, Elong... OMIM:608091
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Moebius Syndrome
Microphthalmia OMIM:157900
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Tangier Disease
Corneal opacity, Hepatosplenomegaly, Anemia, Facial diplegia, Thrombocytopenia ORPHA:31150
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Toni... OMIM:620024
Wilson Disease
Hemolytic anemia, Hyperphosphaturia, Proteinuria, Decreased nerve conduction velocity, Thrombocyt... OMIM:277900
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Retinal vascular malformation, Het... ORPHA:42775
Congenital Disorder Of Deglycosylation 1
Decreased sensory nerve conduction velocity, Corneal opacity, Heparan sulfate excretion in urine,... OMIM:615273
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia, Polyhydramnios ORPHA:3301
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Neurocardiofaciodigital Syndrome
Optic disc pallor, Cataract, Sclerocornea, Vesicoureteral reflux, Hearing impairment OMIM:619869
Baraitser-Winter Syndrome 1
Microphthalmia OMIM:243310
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Holoprosencephaly 14
Aqueductal stenosis, Partial agenesis of the corpus callosum, Cerebellar atrophy, Bilateral tonic... OMIM:619895
Rere-Related Neurodevelopmental Syndrome
Microphthalmia ORPHA:494344
Joubert Syndrome 14
Encephalocele, Microphthalmia, Meningocele OMIM:614424
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Meckel Syndrome 14
Microphthalmia, Increased nuchal translucency, Occipital encephalocele, Oligohydramnios OMIM:619879
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Adams-Oliver Syndrome
Encephalocele, Microphthalmia, Ascites ORPHA:974
Joubert Syndrome 16
Molar tooth sign on MRI OMIM:614465
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Meckel Syndrome, Type 10
Molar tooth sign on MRI, Seizure OMIM:614175
Acute Generalized Exanthematous Pustulosis
Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Conjunctivitis, Neutropenia ORPHA:293173
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia, Polyhydramnios, Edema OMIM:302960
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Self-mutilation, Agenesis of corpus callosum, Abnormal midbrain... ORPHA:314621
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure ORPHA:3044
D-Bifunctional Protein Deficiency
Cerebellar atrophy, Seizure, Corpus callosum atrophy, Bilateral tonic-clonic seizure OMIM:261515
Dyggve-Melchior-Clausen Disease
Corneal opacity, Hearing impairment ORPHA:239
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Small earlobe, Corneal opacity, Hearing impairment ORPHA:364577
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Ablepharon Macrostomia Syndrome
Hypoplasia of penis, Corneal opacity, Corneal erosion, Microtia, Atresia of the external auditory... ORPHA:920
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Mitochondrial Complex I Deficiency, Nuclear Type 1
Exercise intolerance, Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Lethargy OMIM:252010
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Choroidal neovascularization, Sterile pyuria, Tubulointerstitial nephritis, Am... ORPHA:91500
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia, Spina bifida, Polyhydramnios ORPHA:3412
Mend Syndrome
Abnormal auditory evoked potentials, Cataract, Low-set ears ORPHA:401973
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Broad-based gait, Bilateral tonic-clonic seizure, Cerebral atrophy, Gait ataxia, Myoclonic seizur... OMIM:280000
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Bilateral tonic-clonic seizure, Repetitive compulsive behavior, Generalized non... ORPHA:513456
Xeroderma Pigmentosum
Conjunctival telangiectasia, Cataract, Keratitis, Sensorineural hearing impairment, Optic atrophy... ORPHA:910
Moebius Syndrome
Corneal opacity, Facial palsy, Hearing impairment ORPHA:570
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Bilateral tonic-clonic seizure ORPHA:436159
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia OMIM:617914
Peters Plus Syndrome
Low-set, posteriorly rotated ears, Ureteral duplication, Multicystic kidney dysplasia, Cataract, ... ORPHA:709
Joubert Syndrome With Oculorenal Defect
Molar tooth sign on MRI, Seizure, Ataxia ORPHA:2318
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Frontonasal Dysplasia 2
Encephalocele, Microphthalmia, Oligohydramnios OMIM:613451
Fanconi Anemia, Complementation Group I
Microphthalmia, Optic nerve hypoplasia OMIM:609053
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:614231
Coach Syndrome 1
Molar tooth sign on MRI, Seizure, Ataxia OMIM:216360
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Mucopolysaccharidosis, Type Vi
Splenomegaly, Corneal opacity, Dermatan sulfate excretion in urine, Hearing impairment OMIM:253200
Galloway-Mowat Syndrome 3
Microphthalmia, Edema, Oligohydramnios OMIM:617729
Trichothiodystrophy 3, Photosensitive
Microphthalmia OMIM:616395
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia ORPHA:2470
Frontorhiny
Encephalocele, Microphthalmia, Cranium bifidum occultum, Basal encephalocele ORPHA:391474
Hyper-Igd Syndrome
Optic disc pallor, Neutrophilia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Renal angiomyoli... OMIM:260920
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Pancytopenia, Corneal opacity, Abnormality of the spleen, Thrombocytopenia, Splenome... ORPHA:2072
Lathosterolosis
Cataract, Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Ho... OMIM:607330
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Renal tubular dysfunction, Pigmentary retinopathy, Abnormal cornea morphology,... ORPHA:411629
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Congenital Fibrinogen Deficiency
Microphthalmia ORPHA:335
Hallermann-Streiff Syndrome
Choreoathetosis, Hyperactivity, Bilateral tonic-clonic seizure OMIM:234100
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Microcephaly-Micromelia Syndrome
Microphthalmia, Oligohydramnios OMIM:251230
Refsum Disease
Microphthalmia ORPHA:773
Kindler Epidermolysis Bullosa
Urethral stricture, Corneal opacity, Phimosis, Neoplasm of the urethra, Conjunctivitis, Anemia ORPHA:2908
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Marden-Walker Syndrome
Microphthalmia OMIM:248700
Mosaic Trisomy 1
Abnormal pinna morphology, Renal cortical cysts, Renal cyst, Opacification of the corneal stroma,... ORPHA:1692
Neuroocular Syndrome
Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Uni... OMIM:619539
Wolf-Hirschhorn Syndrome
Low-set, posteriorly rotated ears, Hypospadias, Sclerocornea, Optic atrophy, Microtia, Megalocorn... ORPHA:280
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Encephalocraniocutaneous Lipomatosis
Retinopathy, Corneal opacity, Iris coloboma ORPHA:2396
Smith-Lemli-Opitz Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Cataract, Multicystic kidney dysplasia, H... ORPHA:818
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Mucopolysaccharidosis, Type Iva
Keratan sulfate excretion in urine, Chondroitin sulfate excretion in urine, Opacification of the ... OMIM:253000
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Pseudoleprechaunism Syndrome, Patterson Type
Atonic seizure, Bilateral tonic-clonic seizure ORPHA:2976
Joubert Syndrome 17
Molar tooth sign on MRI, Ataxia OMIM:614615
Orofaciodigital Syndrome Type 6
Ataxia, Seizure, Gait disturbance, Hypothalamic hamartoma, Molar tooth sign on MRI ORPHA:2754
Oculoectodermal Syndrome
Chorioretinal atrophy, Microcornea, Astigmatism, Opacification of the corneal stroma, Limbal derm... OMIM:600268
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI, Inability to walk, Ataxia OMIM:617563
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Microphthalmia, Anencephaly OMIM:619148
X Small Rings
Seizure, Bilateral tonic-clonic seizure ORPHA:96201
Webb-Dattani Syndrome
Bilateral tonic-clonic seizure OMIM:615926
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Williams Syndrome
Hypoplasia of penis, Protruding ear, Nephrocalcinosis, Vesicoureteral reflux, Megalocornea, Pelvi... ORPHA:904
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Microphthalmia, Umbilical hernia, Polyhydramnios ORPHA:2166
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Multicystic kidney dysplasia, Optic nerve dysplasia, Retinal dysplasia, Opacification of the corn... OMIM:615287
Fraser Syndrome 1
Corneal opacity, Hypospadias, Abnormal pinna morphology, Cupped ear, Renal hypoplasia, Atresia of... OMIM:219000
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Autosomal Dominant Cutis Laxa
Corneal opacity, Unilateral renal agenesis, Pyelonephritis, Developmental cataract, Bladder diver... ORPHA:90348
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity, Anemia ORPHA:79396
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Bilateral tonic-clonic seizure ORPHA:79124
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia, Encephalocele OMIM:613150
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system, Hypospadias, Asymmetry of the ears, ... OMIM:300166
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia OMIM:616449
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia OMIM:241410
Larsen Syndrome
Conductive hearing impairment, Corneal opacity, Hearing impairment OMIM:150250
Fanconi Anemia, Complementation Group F
Microphthalmia, Polyhydramnios OMIM:603467
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Bilateral tonic-clonic seizure, Cerebral cortical atrophy, Difficulty walking, Gait ataxia ORPHA:457359
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Edema, Lymphedema, Chylothorax, Microphthalmia, Pleural effusion ORPHA:2526
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia OMIM:618571
Ocular Cystinosis
Corneal crystals ORPHA:411641
Ritscher-Schinzel Syndrome 3
Microphthalmia OMIM:619135
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Inability to walk, Seizure, Febrile ... ORPHA:459070
Trisomy 18
Microphthalmia, Anencephaly, Spina bifida, Oligohydramnios ORPHA:3380
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Seizu... OMIM:301044
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Myoclonic spasms, Arthralgia, Bilateral tonic-clonic seizure, Sudden cardiac death ORPHA:73224
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hydroureter, Corneal opacity, Aganglionic megacolon, Keratitis, Corneal erosion, Astigmatism, Con... ORPHA:2273
Micro Syndrome
Microphthalmia ORPHA:2510
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Martsolf Syndrome 1
Microphthalmia OMIM:212720
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia ORPHA:2728
Isolated Permanent Neonatal Diabetes Mellitus
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia ORPHA:99885
Mycophenolate Mofetil Embryopathy
Microphthalmia, Hydrops fetalis ORPHA:268249
Ogden Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Cerebral atrophy, Irritability, Dyspha... OMIM:300855
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Microphthalmia OMIM:253800
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Curry-Jones Syndrome
Occipital meningocele, Microphthalmia, Lipomyelomeningocele OMIM:601707
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma ORPHA:425
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Warburg Micro Syndrome 2
Microphthalmia OMIM:614225
Pseudotrisomy 13 Syndrome
Encephalocele, Microphthalmia OMIM:264480
Wiedemann-Rautenstrauch Syndrome
Cataract, Corneal opacity, Hypospadias, Posteriorly rotated ears, Optic disc hypoplasia, Absent e... ORPHA:3455
Osteogenesis Imperfecta
Mixed hearing impairment, Corneal opacity, Hypercalciuria, Nephrolithiasis, Progressive hearing i... ORPHA:666
Oliver Syndrome
Bilateral tonic-clonic seizure ORPHA:2920
Pelvis-Shoulder Dysplasia
Hydranencephaly, Bilateral microphthalmos, Spina bifida ORPHA:2839
Duane-Radial Ray Syndrome
Microphthalmia, Spina bifida occulta, Optic disc hypoplasia OMIM:607323
Joubert Syndrome 8
Molar tooth sign on MRI, Ataxia OMIM:612291
Kapur-Toriello Syndrome
Microphthalmia OMIM:244300
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology, Aggressive behavior, Depression, Seizure, Self-injurious behavior, ... ORPHA:293987
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Molar tooth sign on MRI, Seizure, Hypoplasia of the brainstem OMIM:619306
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Cat Eye Syndrome
Microphthalmia, Umbilical hernia OMIM:115470
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Posteriorly rotated ears, Sensorineural hearing impairment, Corneal opacity, Low-set ears OMIM:608670
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Hereditary Acrokeratotic Poikiloderma
Abnormal preputium morphology, Abnormality of the urethra, Keratoconjunctivitis, Opacification of... ORPHA:2907
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea OMIM:300952
Gaucher Disease, Type Iiic
Splenomegaly, Pancytopenia, Opacification of the corneal stroma OMIM:231005
Microphthalmia, Lenz Type
Microphthalmia ORPHA:568
Bartsocas-Papas Syndrome 1
Ectopic kidney, Cupped ear, Micropenis, Popliteal pterygium, Microtia, Opacification of the corne... OMIM:263650
Monosomy 9Q22.3
Microphthalmia, Umbilical hernia ORPHA:77301
Van Den Ende-Gupta Syndrome
Posteriorly rotated ears, Sclerocornea, Overfolded helix, Protruding ear, Small earlobe OMIM:600920
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Fraser Syndrome 2
Microphthalmia, Oligohydramnios OMIM:617666
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Molar tooth sign on MRI, Lateral ventricle dilatation, Elongated superior cerebellar peduncle, Co... ORPHA:397715
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Hartsfield Syndrome
Agenesis of corpus callosum, Bilateral tonic-clonic seizure OMIM:615465
Cohen Syndrome
Microphthalmia ORPHA:193
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Holoprosencephaly
Encephalocele, Anophthalmia, Spinal dysraphism, Branchial anomaly, Microphthalmia ORPHA:2162
Microphthalmia, Syndromic 6
Posteriorly rotated ears, Retinal dystrophy, Uplifted earlobe, Sclerocornea, Renal hypoplasia, Pr... OMIM:607932
Cousin Syndrome
Hydranencephaly, Microphthalmia OMIM:260660
Neu-Laxova Syndrome 1
Spina bifida, Polyhydramnios, Short umbilical cord, Small placenta, Hydranencephaly, Microphthalm... OMIM:256520
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Cataract, Hypospadias, Corneal opacity, Posteriorly rotated ears, Abnormal pinn... OMIM:268300
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia ORPHA:464738
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Microphthalmia OMIM:616300
Phace Association
Microphthalmia, Optic nerve hypoplasia OMIM:606519
Mucolipidosis Ii Alpha/Beta
Splenomegaly, Mucopolysacchariduria, Opacification of the corneal stroma, Megalocornea, Enlarged ... OMIM:252500
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Epileptic spasm, Broad-based gait, Inability to walk, Seizure, Recurrent singultus, Myoclonus, Dy... ORPHA:438213
Ohdo Syndrome, X-Linked
Microphthalmia OMIM:300895
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Tinnitus, Opacification of the corneal stroma, Hearing impairment ORPHA:79280
Cerebellar-Facial-Dental Syndrome
Hypoplasia of the pons, Hypoplasia of the brainstem, Abnormal midbrain morphology ORPHA:444072
Fryns Syndrome
Ureteral duplication, Hypospadias, Aganglionic megacolon, Renal cyst, Opacification of the cornea... OMIM:229850
Meckel Syndrome, Type 1
Occipital encephalocele, Large placenta, Anencephaly, Microphthalmia, Oligohydramnios OMIM:249000
Limb Body Wall Complex
Lens subluxation, Corneal opacity, Iris coloboma ORPHA:2369
Stuve-Wiedemann Syndrome 1
Low-set ears, Abnormal autonomic nervous system physiology, Opacification of the corneal stroma OMIM:601559
2Q31.1 Microdeletion Syndrome
Microphthalmia ORPHA:251014
Basal Cell Nevus Syndrome 1
Microphthalmia, Spina bifida OMIM:109400
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Self-injurious ... OMIM:612474
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... ORPHA:353281
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
1Q21.1 Microdeletion Syndrome
Microphthalmia ORPHA:250989
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Yunis-Varon Syndrome
Cataract, Hypospadias, Abnormal pinna morphology, Sclerocornea, Renovascular hypertension, Renal ... ORPHA:3472
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Fanconi Anemia, Complementation Group E
Microphthalmia OMIM:600901
Hutchinson-Gilford Progeria Syndrome
High-frequency sensorineural hearing impairment, Corneal opacity, Prominent ear helix, Low-freque... ORPHA:740
Fanconi Anemia
Spina bifida, Aplasia/Hypoplasia of the iris, Umbilical hernia, Microphthalmia, Oligohydramnios ORPHA:84
Orofaciodigital Syndrome Vi
Molar tooth sign on MRI, Agenesis of corpus callosum, Hypothalamic hamartoma OMIM:277170
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microphthalmia, Optic nerve hypoplasia, Spina bifida ORPHA:508498
Fanconi Anemia, Complementation Group A
Microphthalmia OMIM:227650
Joubert Syndrome 5
Molar tooth sign on MRI, Ataxia, Thickened superior cerebellar peduncle, Aggressive behavior OMIM:610188
Dubowitz Syndrome
Hypoplasia of the iris, Microphthalmia OMIM:223370
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos OMIM:618874
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Arima Syndrome
Ataxia, Brainstem dysplasia, Hypoplasia of the brainstem, Molar tooth sign on MRI, Polydipsia OMIM:243910
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia OMIM:308300
Treacher-Collins Syndrome
Encephalocele, Microphthalmia, Branchial fistula ORPHA:861
22Q11.2 Deletion Syndrome
Spina bifida, Polyhydramnios, Meningocele, Occipital myelomeningocele, Umbilical hernia, Micropht... ORPHA:567
Isolated Arrhinia
Microphthalmia ORPHA:1134
Jacobsen Syndrome
Microphthalmia, Macular hypoplasia OMIM:147791
Digeorge Syndrome
Renal insufficiency, Unilateral renal agenesis, Sclerocornea, Thrombocytopenia, Splenomegaly, Hyp... OMIM:188400
Pallister-Hall Syndrome
Microphthalmia OMIM:146510
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ... ORPHA:353277
Fanconi Anemia, Complementation Group C
Microphthalmia OMIM:227645
Trichothiodystrophy
Umbilical hernia, Bilateral microphthalmos ORPHA:33364
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Microphthalmia, Polyhydramnios OMIM:620186
Acro-Renal-Ocular Syndrome
Microphthalmia, Optic disc hypoplasia ORPHA:959
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Holoprosencephaly 7
Occipital meningocele, Microphthalmia, Bilateral microphthalmos OMIM:610828
Aicardi Syndrome
Microphthalmia, Spina bifida OMIM:304050
Roberts Syndrome
Microphthalmia, Polyhydramnios ORPHA:3103
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Sotos Syndrome
Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absence) seizure, Cer... ORPHA:821
Chromosome 13Q14 Deletion Syndrome
Microphthalmia, Umbilical hernia OMIM:613884
Microphthalmia, Syndromic 9
Anophthalmia, Bilateral microphthalmos OMIM:601186
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Rothmund-Thomson Syndrome, Type 2
Microphthalmia OMIM:268400
Fanconi Anemia, Complementation Group D2
Microphthalmia OMIM:227646
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Molar tooth sign on MRI, Lateral ventricle dilatation OMIM:619479
Fontaine Progeroid Syndrome
Microphthalmia, Umbilical hernia, Oligohydramnios OMIM:612289
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Anophthalmia ORPHA:2538
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610829
Fanconi Anemia, Complementation Group L
Microphthalmia OMIM:614083
Steinfeld Syndrome
Microphthalmia OMIM:184705
Orofaciodigital Syndrome Type 2
Bilateral tonic-clonic seizure ORPHA:2751
Frontofacionasal Dysplasia
Cranium bifidum occultum, Microphthalmia OMIM:229400
Myhre Syndrome
Pericardial effusion, Microphthalmia OMIM:139210
Hallermann-Streiff Syndrome
Microphthalmia ORPHA:2108
Doors Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure ORPHA:79500
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microphthalmia OMIM:616975
Kenny-Caffey Syndrome, Type 2
Microphthalmia OMIM:127000
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Aicardi Syndrome
Microphthalmia ORPHA:50
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia ORPHA:1106
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia OMIM:620005
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Microphthalmia ORPHA:306542
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia OMIM:609945
Charge Syndrome
Microphthalmia, Anophthalmia, Polyhydramnios ORPHA:138
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Focal Dermal Hypoplasia
Anophthalmia, Myelomeningocele, Umbilical hernia, Aniridia, Microphthalmia, Spina bifida occulta OMIM:305600
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Unilateral renal agenesis, Kera... OMIM:308205
Fraser Syndrome
Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia, Microphthalmia ORPHA:2052
Degcags Syndrome
Microphthalmia, Polyhydramnios OMIM:619488
Monosomy 9P
Microphthalmia ORPHA:261112
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Phthisis bulbi OMIM:259770
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma OMIM:157170
Hydrolethalus Syndrome 1
Microphthalmia, Anencephaly, Polyhydramnios OMIM:236680
Cockayne Syndrome
Microphthalmia ORPHA:191
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Bilateral microphthalmos, Optic nerve hypoplasia ORPHA:468631
Adams-Oliver Syndrome 1
Encephalocele, Microphthalmia OMIM:100300
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia ORPHA:3186
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Molar tooth sign on MRI, Hypoplasia of the brainstem OMIM:616546
Charge Syndrome
Anophthalmia, Polyhydramnios, Unilateral microphthalmos, Umbilical hernia, Microphthalmia OMIM:214800
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia OMIM:616734
Monosomy 13Q14
Microphthalmia ORPHA:1587
Joubert Syndrome 38
Molar tooth sign on MRI OMIM:619476
Witteveen-Kolk Syndrome
Microphthalmia, Polyhydramnios, Branchial fistula OMIM:613406
Kabuki Syndrome 1
Seizure, Lateral ventricle dilatation, Focal impaired awareness seizure, Bilateral tonic-clonic s... OMIM:147920
8Q24.3 Microdeletion Syndrome
Branchial cyst, Optic nerve hypoplasia, Bilateral microphthalmos, Spina bifida occulta, Oligohydr... ORPHA:508488
Pallister-Hall Syndrome
Microphthalmia, Umbilical hernia, Oligohydramnios ORPHA:672
Yunis-Varon Syndrome
Cataract, Hypospadias, Small earlobe, Sclerocornea, Sensorineural hearing impairment, Cupped ear,... OMIM:216340
Joubert Syndrome 39
Molar tooth sign on MRI OMIM:619562
Renpenning Syndrome 1
Microphthalmia OMIM:309500
Tetraamelia Syndrome 1
Microphthalmia OMIM:273395
Branchiooculofacial Syndrome
Microphthalmia, Branchial anomaly, Anophthalmia OMIM:113620
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos ORPHA:93325
Lowe Oculocerebrorenal Syndrome
Microphthalmia OMIM:309000
Orofaciodigital Syndrome Type 14
Molar tooth sign on MRI, Partial agenesis of the corpus callosum ORPHA:434179
Holoprosencephaly 1
Microphthalmia OMIM:236100
Orofaciodigital Syndrome Xiv
Molar tooth sign on MRI, Partial agenesis of the corpus callosum OMIM:615948
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Mowat-Wilson Syndrome
Microphthalmia OMIM:235730
Townes-Brocks Syndrome
Microphthalmia ORPHA:857
Craniofacial Microsomia 1
Microphthalmia, Occipital encephalocele, Anophthalmia, Branchial anomaly OMIM:164210
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Microphthalmia ORPHA:261537
Mowat-Wilson Syndrome
Microphthalmia ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Microphthalmia ORPHA:261552
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.

There is no histopathology data for Eef1d

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 Eef1d.

No publications found that use IMPC mice or data for Eef1d.

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MGI Allele Allele Type Produced
Eef1dtm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Eef1dtm450623(L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Eef1dem1(IMPC)Mbp Inter-exon deletion Mice
Eef1dtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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