Gene Summary

Name:
eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)
Synonyms:
1700026P12Rik,  5730529A16Rik

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal placenta vasculature Eef1dem1(IMPC)Mbp HET E15.5 0.00
microphthalmia Eef1dem1(IMPC)Mbp HET E15.5 0.00
abnormal kidney morphology Eef1dem1(IMPC)Mbp HET Early adult 0.00
edema Eef1dem1(IMPC)Mbp HOM E15.5 0.00
corneal opacity Eef1dem1(IMPC)Mbp HET   Early adult 1.20×10-05
embryonic growth retardation Eef1dem1(IMPC)Mbp HOM E15.5 0.00
edema Eef1dem1(IMPC)Mbp HET E15.5 0.00
abnormal eye morphology Eef1dem1(IMPC)Mbp HET Early adult 0.00
abnormal placenta morphology Eef1dem1(IMPC)Mbp HOM E15.5 0.00
abnormal blood vessel morphology Eef1dem1(IMPC)Mbp HOM E15.5 0.00
preweaning lethality, complete penetrance Eef1dem1(IMPC)Mbp HOM   Early adult 0.00
small kidney Eef1dem1(IMPC)Mbp HET Early adult 0.00
abnormal auditory brainstem response Eef1dem1(IMPC)Mbp HET   Early adult 4.43×10-05
abnormal skin morphology Eef1dem1(IMPC)Mbp HET Early adult 0.00
abnormal placenta morphology Eef1dem1(IMPC)Mbp HET E15.5 0.00
abnormal vitreous body morphology Eef1dem1(IMPC)Mbp HET Early adult 1.34×10-05
cataract Eef1dem1(IMPC)Mbp HET   Early adult 5.34×10-06
increased neutrophil cell number Eef1dem1(IMPC)Mbp HET Early adult 8.92×10-05

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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.

Phenotype associated images not available

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
Cerebral atrophy, Cerebellar atrophy, Mental deterioration, Increased neuronal autofluorescent li... OMIM:610003
Rare Non-Syndromic Intellectual Disability
Cerebral atrophy, Hypoplastic hippocampus, Seizure, Microcephaly, Emotional lability, Dysgenesis ... ORPHA:101685
Dravet Syndrome
Cerebral atrophy, Myoclonic seizure, Atonic seizure, Focal hemiclonic seizure, Visually-induced s... OMIM:607208
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Cerebral atrophy, Cerebellar atrophy, Generalized myoclonic seizure, Bilateral tonic-clonic seizu... OMIM:611726
Lennox-Gastaut Syndrome
Atypical absence seizure, Atonic seizure, Abnormal brainstem morphology, Generalized myoclonic se... ORPHA:2382
Behavioral Variant Of Frontotemporal Dementia
Memory impairment, Disinhibition, Frontotemporal dementia, Inappropriate behavior, Mental deterio... ORPHA:275864
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Anxiety, Mental deterioration, Ataxia, Bilateral tonic-clonic seizure, Depression, Dif... OMIM:619191
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with vestibular features, Focal sensory seizure with cephalic sensation, De... OMIM:600512
Generalized Epilepsy With Febrile Seizures-Plus
Cognitive impairment, Atonic seizure, Generalized cerebral atrophy/hypoplasia, Generalized-onset ... ORPHA:36387
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Nanophthalmos 2
Microphthalmia OMIM:609549
Epilepsy, Nocturnal Frontal Lobe, 2
Bilateral tonic-clonic seizure, Depression, Status epilepticus, Aggressive behavior OMIM:603204
Isolated Focal Cortical Dysplasia
Abnormal cortical gyration, Cognitive impairment, Generalized-onset seizure, Psychomotor deterior... ORPHA:65683
Progressive Myoclonic Epilepsy Type 3
Photosensitive myoclonic seizure, Cerebral atrophy, Cerebellar atrophy, Chin myoclonus, Aplasia/H... ORPHA:263516
Landau-Kleffner Syndrome
Atypical absence seizure, Memory impairment, Anxiety, Focal myoclonic seizure, Steppage gait, Agg... ORPHA:98818
Developmental And Epileptic Encephalopathy 98
Cerebral atrophy, Cerebellar atrophy, Perisylvian polymicrogyria, Bilateral tonic-clonic seizure ... OMIM:619605
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Cognitive impairment, Akinetic mutism, Dementia, Mental deterioration, Aggressive behavior, Back ... ORPHA:199354
Corneal Dystrophy-Perceptive Deafness Syndrome
Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy ORPHA:1490
Familial Focal Epilepsy With Variable Foci
Cognitive impairment, Deja vu aura, Focal cortical dysplasia, Focal aware seizure, Pain, Hemimega... ORPHA:98820
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Epilepsy, Progressive Myoclonic, 8
Bilateral tonic-clonic seizure, Dementia, Cognitive impairment, Myoclonus OMIM:616230
Lipedema
Edema OMIM:614103
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Suicidal ideation, Aggressive behavior, Microcephaly, Cortical dysplasia, Focal impaired awarenes... ORPHA:208441
Lissencephaly 10
Agyria, Suicidal ideation, Atypical absence seizure, Tonic seizure, Myoclonic seizure, Atonic sei... OMIM:618873
Continuous Spikes And Waves During Sleep
Atypical absence seizure, Cognitive impairment, Atonic seizure, Focal hemiclonic seizure, Myoclon... ORPHA:725
Developmental And Epileptic Encephalopathy 99
Eyelid myoclonus, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Tonic seizure... OMIM:619606
Developmental And Epileptic Encephalopathy 34
Cerebral atrophy, Focal hemiclonic seizure, Bilateral tonic-clonic seizure with focal onset, Inab... OMIM:616645
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Focal-onset seizure, Thick cerebral cortex, Cortical dysplasia, Bi... ORPHA:101071
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Ataxia, Status epilepticus ORPHA:22
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Spinocerebellar Ataxia 48
Cerebellar atrophy, Dysmetria, Anxiety, Mental deterioration, Ataxia, Gait ataxia, Irritability, ... OMIM:618093
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... ORPHA:101046
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Cerebral atrophy, Cerebellar atrophy, Hypoplasia of the brainstem, Microcephaly, Lissencephaly, B... OMIM:618730
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebral atrophy, Cerebellar atrophy, Thin corpus callosum, Bradykinesia, Seizure, Gait disturban... OMIM:300423
Yoon-Bellen Neurodevelopmental Syndrome
Cerebral atrophy, Inability to walk, Ataxia, Microcephaly, Generalized myoclonic-atonic seizure, ... OMIM:619701
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Polymicrogyria, Cognitive impairment, Atypical absence seizure OMIM:300388
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Short stepped shuffling gait, Memory impairment, Shuffling gait, Inertia, Anxiety, Frontotemporal... ORPHA:412066
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure, Inability to walk, Aggressive behavior OMIM:619639
Developmental And Epileptic Encephalopathy 9
Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Aggressive behavior, Bilatera... OMIM:300088
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, Gait ataxia, Gen... OMIM:618587
Clcn4-Related X-Linked Intellectual Disability Syndrome
Depression, Bipolar affective disorder, Self-injurious behavior, Anxiety, Aggressive behavior, Un... ORPHA:485350
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the brainste... ORPHA:250972
Salt And Pepper Developmental Regression Syndrome
Global brain atrophy, Status epilepticus, Microcephaly, Irritability, Bilateral tonic-clonic seiz... OMIM:609056
Autosomal Dominant Non-Syndromic Intellectual Disability
Abnormal hippocampus morphology, Typical absence seizure, Microcephaly, Epileptic spasm, Dilation... ORPHA:178469
Myoclonic Epilepsy Of Unverricht And Lundborg
Dementia, Mental deterioration, Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (ab... OMIM:254800
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebral atrophy, Cerebellar atrophy, Tonic seizure, Progressive microcephaly, Self-injurious beh... OMIM:618917
Rasmussen Subacute Encephalitis
Cognitive impairment, Global brain atrophy, Focal aware seizure, Epileptic spasm, Cerebral cortic... ORPHA:1929
Female Restricted Epilepsy With Intellectual Disability
Atypical absence seizure, Atonic seizure, Complex febrile seizure, Anxiety, Generalized myoclonic... ORPHA:101039
Epilepsy, Familial Temporal Lobe, 5
Focal impaired awareness seizure, Visually-induced seizure, Focal aware seizure, Bilateral tonic-... OMIM:614417
Pontocerebellar Hypoplasia, Type 14
Agenesis of corpus callosum, Focal-onset seizure, Hypoplasia of the brainstem, Simplified gyral p... OMIM:619301
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Microcephaly, Bilateral tonic-clonic seizure, Cerebellar atrophy, Cortical dysplasia OMIM:608278
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Inability to walk, Generalized myoclonic seizure, Focal-onset seizure, Seizur... ORPHA:330050
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Focal-onset seizure, Aggressive behavior, Microcephaly, Bilateral tonic-clonic... OMIM:619157
Myoclonic Epilepsy Of Infancy
Photosensitive tonic-clonic seizure, Generalized myoclonic seizure, Mental deterioration, Aggress... ORPHA:86909
Unilateral Focal Polymicrogyria
Cerebral cortical hemiatrophy, Memory impairment, Bilateral tonic-clonic seizure with focal onset... ORPHA:268947
Cortical Malformations, Occipital
Bilateral tonic-clonic seizure, Polymicrogyria, Pachygyria OMIM:614115
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Aggressive behavior, Bilateral tonic-clonic seizure, Generalized non-motor (abs... OMIM:618357
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Episodic Ataxia, Type 9
Tonic seizure, Seizure, Bilateral tonic-clonic seizure, Clonic seizure, Episodic ataxia, Status e... OMIM:618924
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure, Bilateral tonic-clonic seizure, Focal sensory seizure with visual features... OMIM:615400
Late Infantile Neuronal Ceroid Lipofuscinosis
Aggressive behavior, Typical absence seizure, Cerebellar atrophy, Atonic seizure, Focal-onset sei... ORPHA:168491
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Galactosialidosis
Corneal opacity, Hearing impairment ORPHA:351
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Pyridoxine-Dependent Epilepsy
Atonic seizure, Focal aware motor seizure, Focal-onset seizure, Focal myoclonic seizure, Irritabi... ORPHA:3006
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Abnormal antihelix morphology, Hearing impairment OMIM:274205
Cerebellar Atrophy, Developmental Delay, And Seizures
Cerebellar atrophy, Bilateral tonic-clonic seizure with focal onset, Seizure OMIM:617643
Intellectual Developmental Disorder, X-Linked 1
Atonic seizure, Aggressive behavior, Secondary microcephaly, Bilateral tonic-clonic seizure, Seizure OMIM:309530
Epilepsy, Familial Temporal Lobe, 8
Deja vu aura, Focal aware cognitive seizure with forced thinking, Bilateral tonic-clonic seizure ... OMIM:616461
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Atonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Primary mic... OMIM:245570
New-Onset Refractory Status Epilepticus
Cognitive impairment, Global brain atrophy, Focal aware motor seizure, Bilateral tonic-clonic sei... ORPHA:363558
Developmental And Epileptic Encephalopathy 6B
Myoclonic seizure, Tonic seizure, Focal hemiclonic seizure, Myoclonic absence seizure, Hypoplasti... OMIM:619317
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Cerebellar atrophy, Cognitive impairment, Myoclonic spasms, Progressive languag... ORPHA:79264
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Hearing impairment OMIM:300719
Glaucoma 3, Primary Congenital, D
Corneal opacity, Ectopia lentis, Primary congenital glaucoma OMIM:613086
Microlissencephaly
Cerebral dysmyelination, Cerebellar atrophy, Microcephaly, Lissencephaly, Thick cerebral cortex, ... ORPHA:1083
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Pontocerebellar Hypoplasia, Type 15
Agenesis of corpus callosum, Focal-onset seizure, Hypoplasia of the brainstem, Partial agenesis o... OMIM:619302
Severe Canavan Disease
Inability to walk, Cerebral white matter atrophy, Lethargy, Irritability, Megalencephaly, Bilater... ORPHA:314911
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Bilateral tonic-clonic seizure, Seizure OMIM:608762
Nanophthalmos 4
Microphthalmia OMIM:615972
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Generalized myoclonic seizure, Ataxia, Gait ataxia, Generalized non-motor (absence) seizure, Foca... OMIM:617831
Foxg1 Syndrome
Abnormal corpus callosum morphology, Cognitive impairment, Agenesis of corpus callosum, Progressi... ORPHA:561854
Benign Familial Infantile Epilepsy
Focal motor seizure, Bilateral tonic-clonic seizure with focal onset, Focal clonic seizure, Focal... ORPHA:306
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract, Renal tubular dysfunction ORPHA:1380
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Hematuria, Optic atrophy, Posterior embryotoxon, Sensorineural hearing impairment, Cataract, Corn... ORPHA:1473
Perioral Myoclonia With Absences
Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized myoclonic seizure, Bilateral ton... ORPHA:139426
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Stickler Syndrome Type 2
Sensorineural hearing impairment, Cataract, Corneal opacity, Retinal detachment ORPHA:90654
Dermoids Of Cornea
Corneal opacity OMIM:304730
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Succinic Semialdehyde Dehydrogenase Deficiency
Cerebellar atrophy, Self-injurious behavior, Anxiety, Generalized myoclonic seizure, Ataxia, Aggr... OMIM:271980
Aniridia 3
Cataract OMIM:617142
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Nathalie Syndrome
Sensorineural hearing impairment, Cataract ORPHA:2663
Developmental And Epileptic Encephalopathy 26
Atypical absence seizure, Atonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal ... OMIM:616056
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Atonic seizure, Generalized-onset seizure, Self-injurious behavior, Abnormal hi... ORPHA:208447
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy, Hearing impairment OMIM:165300
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Seizure, Myoclonus OMIM:615127
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Abnormal lateral ventricle morphology, Gait ataxia, Hypoplasia of the corpus ... ORPHA:488635
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure, Mental deterioration OMIM:104290
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Optic disc hypoplasia, Hypoplasia of the fovea OMIM:613703
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Complex febrile seizure, Hypointensity of cerebral white matter on MRI, Seizure precipitated by f... ORPHA:363549
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Edema OMIM:616570
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Febrile Seizures, Familial, 11
Hippocampal atrophy, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile se... OMIM:614418
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Status epilepticus OMIM:613721
Developmental And Epileptic Encephalopathy 94
Tonic seizure, Atonic seizure, Visually-induced seizure, Generalized myoclonic seizure, Febrile s... OMIM:615369
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure, Pachygyria OMIM:600176
Epilepsy, Familial Adult Myoclonic, 3
Bilateral tonic-clonic seizure, Difficulty walking, Focal-onset seizure, Myoclonus OMIM:613608
Epilepsy, Pyridoxine-Dependent
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Status epilepticus OMIM:266100
Familial Infantile Myoclonic Epilepsy
Cerebellar atrophy, Abnormal hippocampus morphology, Generalized myoclonic seizure, Ataxia, Focal... ORPHA:352582
Lafora Disease
Depression, Atonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure,... ORPHA:501
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Cerebral atrophy, Generalized myoclonic seizure, Cerebral white matter atrophy, Ataxia, Seizure, ... ORPHA:464282
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration, Hearing impairment OMIM:121450
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Focal hemiclonic seizure, Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Feb... OMIM:604403
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Myoclonic seizure, Anxiety, Bilateral tonic-clonic seizure OMIM:619000
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Gombo Syndrome
Microphthalmia OMIM:233270
Episodic Ataxia, Type 5
Atypical absence seizure, Ataxia, Febrile seizure (within the age range of 3 months to 6 years), ... OMIM:613855
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebral atrophy, Cerebellar atrophy, Cognitive impairment, Hyperintensity of cerebral white matt... ORPHA:1947
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure OMIM:616341
Epilepsy, Myoclonic Juvenile
Bilateral tonic-clonic seizure, Morning myoclonic jerks, Status epilepticus, Generalized non-moto... OMIM:254770
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Fatty Acid Hydroxylase-Associated Neurodegeneration
Atrophy of the spinal cord, Cerebellar atrophy, Cerebellar vermis atrophy, Loss of ability to wal... ORPHA:329308
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Dysmetria, Myoclonic seizure, Atonic seizure, Inability to walk, Gait ataxia,... OMIM:617810
Seizures, Benign Familial Neonatal, Autosomal Recessive
Bilateral tonic-clonic seizure OMIM:269720
Spastic Ataxia 5, Autosomal Recessive
Cerebellar atrophy, Dysmetria, Cognitive impairment, Generalized myoclonic seizure, Ataxia, Dysdi... OMIM:614487
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Subepithelial corneal opacities, Astigmatism, Corne... ORPHA:98964
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Cerebellar vermis atrophy, Ataxia, Microcephaly,... OMIM:618170
Autosomal Recessive Frontotemporal Pachygyria
Urinary incontinence, Pachygyria, Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dilated third ventricle, Anxiety, Bradykinesia, Ataxia, Panic attack, Microcephaly, Abnormal peri... OMIM:619725
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Sensorineural hearing impairment, Cataract, Developmental cataract OMIM:613076
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Thrombocytopenia ORPHA:1980
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:601068
Developmental And Epileptic Encephalopathy 79
Hypoplasia of the corpus callosum, Tonic seizure, Bilateral tonic-clonic seizure with generalized... OMIM:618559
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure OMIM:617080
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Spastic Paraparesis And Deafness
Cataract, Hearing impairment OMIM:312910
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Hypoplasia of the corpus callosum, Focal-onset seizure, Primary microcephaly, Febrile seizure (wi... ORPHA:289266
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Convulsive status epilepticus, Self-injurious behavior, Inability to walk, Focal-onset seizure, H... OMIM:618760
Huntington Disease-Like 1
Dysmetria, Basal ganglia gliosis, Global brain atrophy, Anxiety, Dementia, Aggressive behavior, U... OMIM:603218
Bilateral Frontoparietal Polymicrogyria
Cerebral dysmyelination, Atonic seizure, Generalized myoclonic seizure, Typical absence seizure, ... ORPHA:101070
Infantile Cerebellar-Retinal Degeneration
Cerebellar atrophy, Progressive microcephaly, Athetosis, Ataxia, Focal-onset seizure, Microcephal... OMIM:614559
Brain Small Vessel Disease 2
Schizencephaly, Porencephalic cyst, Focal-onset seizure, Bilateral tonic-clonic seizure, Polymicr... OMIM:614483
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Bilateral tonic-clonic seizure with focal onset, Seizure, Focal-onset seizure, Hypoplasia of the ... ORPHA:163721
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Opacification of the cor... ORPHA:98960
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Cerebral atrophy, Irritability, Inability to walk, Bilateral tonic-clonic seizure ORPHA:457205
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Generalized myoclonic seizure, Bradykinesia, Ataxia, Bilateral tonic-c... OMIM:617836
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Myoclonic seizure, Focal-onset seizure, Microcephaly, Generalized non-motor (absence) seizure, Hy... OMIM:619616
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Sensorineural hearing impairment, Corneal dystrophy OMIM:217400
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Bilateral tonic-clonic seizure, Seizure OMIM:601217
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Bilateral tonic-clonic seizure, Ataxia OMIM:618425
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Cataract OMIM:610156
Febrile Seizures, Familial, 4
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:602477
Febrile Seizures, Familial, 1
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:121210
Febrile Seizures, Familial, 5
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:609255
Febrile Seizures, Familial, 6
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:609253
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:600669
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Cerebral white matter atrophy, Microcephaly, Myalgia, Truncal ataxia, Bilateral tonic-clonic seiz... ORPHA:369840
Morquio Syndrome C
Corneal opacity OMIM:252300
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:616685
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Increased cerebral lipofuscin, Bilateral tonic-clonic seizure with focal onset, Chronic fatigue, ... OMIM:610539
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity OMIM:601382
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awa... OMIM:616172
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cerebellar atrophy, Tonic seizure, Happy demeanor, Paroxysmal bursts of laughter, Mood swings, An... OMIM:619580
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Dysmetria, Atonic seizure, Inability to walk, Unsteady gait, Gait disturbance... ORPHA:93952
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Atonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years... OMIM:613863
Oxoglutarate Dehydrogenase Deficiency
Dysmetria, Unsteady gait, Gait ataxia, Bilateral tonic-clonic seizure, Falls OMIM:203740
Guanidinoacetate Methyltransferase Deficiency
Atonic seizure, Self-injurious behavior, Generalized myoclonic seizure, Athetosis, Ataxia, Aggres... ORPHA:382
Isolated Optic Nerve Hypoplasia/Aplasia
EEG abnormality, Corneal opacity, Optic nerve hypoplasia, Aplasia/Hypoplasia of the iris, Pseudop... ORPHA:137902
Centralopathic Epilepsy
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Nocturnal seizures OMIM:117100
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Galactosemia Ii
Cataract, Galactosuria OMIM:230200
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Developmental cataract, EEG abnormality, Micropenis, Corneal opacity, Hypospadias OMIM:618815
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Agenesis of corpus callosum, Basal ganglia cysts, Basal ganglia gliosis, Basal ... ORPHA:79243
Autosomal Dominant Spastic Paraplegia Type 6
Urinary incontinence, Bilateral tonic-clonic seizure, Gait disturbance ORPHA:100988
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Atonic seizure, Inability to walk, Generalized myoclonic seizure, Mental deteri... ORPHA:2590
Juvenile Absence Epilepsy
Generalized-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilater... ORPHA:1941
Winchester Syndrome
Corneal opacity OMIM:277950
Alpers-Huttenlocher Syndrome
Ataxia, Focal-onset seizure, Microcephaly, Bilateral tonic-clonic seizure, Myoclonus ORPHA:726
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Atonic seizure, Febrile ... OMIM:604233
Developmental And Epileptic Encephalopathy 4
Cerebral atrophy, Generalized myoclonic seizure, Generalized tonic seizure, Hypoplasia of the cor... OMIM:612164
Epilepsy, Familial Temporal Lobe, 2
Focal aware seizure, Febrile seizure (within the age range of 3 months to 6 years), Febrile statu... OMIM:608096
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane ORPHA:1067
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized myoclonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 mo... OMIM:613060
Sarcosinemia
Emotional lability, Bilateral tonic-clonic seizure, Ataxia ORPHA:3129
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Febrile seizu... OMIM:605021
Developmental And Epileptic Encephalopathy 90
Cerebral atrophy, Focal-onset seizure, Abdominal pain, Focal impaired awareness seizure, Bilatera... OMIM:301058
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea OMIM:217800
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Rolandic Epilepsy
Focal hemifacial clonic seizure, Atypical absence seizure, Anxiety, Bilateral tonic-clonic seizur... ORPHA:1945
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Dysmetria, Ataxia, Impaired tandem gait, Bilateral tonic-clonic seizure with ... OMIM:619028
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Aggressive behavior, Microcephaly, Bilateral tonic-clonic seizure, Generalized non-motor... OMIM:300558
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Cognitive impairment, Memory impairment, Abnormal cerebral white matter morphology, Stress urinar... ORPHA:136
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Atrophy of the spinal cord, Cognitive impairment, Generalized myoclonic seizure, Mental deteriora... ORPHA:395
Trichomegaly
Cataract OMIM:190330
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:609446
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Hypoplasia of the corpus callosum, Microcephaly, Secondary microcephaly, Bilateral tonic-clonic s... OMIM:616281
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Myoclonic Epilepsy Of Lafora
Dementia, Bilateral tonic-clonic seizure with focal onset, Generalized myoclonic seizure, Lafora ... OMIM:254780
Sulfite Oxidase Deficiency, Isolated
Cerebral atrophy, Hyperintensity of cerebral white matter on MRI, Ataxia, Microcephaly, Bilateral... OMIM:272300
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Bilateral tonic-clonic seizure, Ataxia, Myoclonus OMIM:619065
Epilepsy, Juvenile Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure on awakening, Generalized myoclonic seizure, Generalized non-motor... OMIM:607631
Spastic Paraplegia 82, Autosomal Recessive
Cerebral atrophy, Bilateral tonic-clonic seizure with generalized onset, Focal-onset seizure OMIM:618770
Congenital Disorder Of Glycosylation, Type Ii
Cataract, Hypsarrhythmia OMIM:607906
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Fryns Microphthalmia Syndrome
Microphthalmia, Neural tube defect, Anophthalmia OMIM:600776
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Anxiety, Microcephaly, Self-mutilation, Gait disturbance, Bilateral tonic-clonic seizure, Depress... ORPHA:457240
Bardet-Biedl Syndrome 18
Cataract, Renal insufficiency OMIM:615995
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Increased corneal thickness, Abnormal Descemet membrane morphology, Sensor... ORPHA:293603
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal opacity, Corneal erosion, Corneal dystrophy OMIM:608470
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Nanophthalmos
Microphthalmia ORPHA:35612
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Bilateral tonic-clonic seizure on awakening, Morning myoclonic jerks, Generalized non-motor (abse... OMIM:607682
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity, Retinal degeneration, Optic atrophy OMIM:252650
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity, Nuclear cataract ORPHA:293621
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Bilateral Polymicrogyria
Cerebellar atrophy, Cerebellar ataxia associated with quadrupedal gait, Cognitive impairment, Gen... ORPHA:268940
Seizures, Benign Familial Infantile, 1
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset se... OMIM:601764
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Bilateral tonic-clonic seizure on awakening, Generalized myoclonic seizure, Generalized non-motor... OMIM:607628
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Sensorineural hearing impairment, Cataract, Ret... OMIM:310600
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Dysmetria, Seizure, Gait ataxia, Bilateral tonic-clonic seizure, Difficulty w... ORPHA:529665
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Seizures, Benign Familial Neonatal, 1
Bilateral tonic-clonic seizure, Focal clonic seizure, Febrile seizure (within the age range of 3 ... OMIM:121200
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Atypical absence seizure, Tonic seizure, Bilateral tonic-clonic seizure with focal onset, Ataxia,... OMIM:619428
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:618856
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Suicidal ideation, Cognitive impairment, Anxiety, Focal hyperkinetic seizure, Nocturnal seizures,... ORPHA:98784
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Progressive cataract, Iris coloboma OMIM:604219
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Generalized-onset seizure ORPHA:79137
Morm Syndrome
Micropenis, Cataract, Retinal atrophy ORPHA:75858
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Dysmetria, Generalized myoclonic seizure, Ataxia, Dysdiadochokinesis, Bilater... ORPHA:313772
Epilepsy, Childhood Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:600131
Febrile Seizures, Familial, 8
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:607681
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Cataract, Optic disc pallor, Macular degeneration OMIM:618195
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, O... OMIM:617319
Epilepsy, Familial Adult Myoclonic, 2
Cognitive impairment, Dementia, Ataxia, Bilateral tonic-clonic seizure, Myoclonus OMIM:607876
Joubert Syndrome 13
Molar tooth sign on MRI, Pachygyria OMIM:614173
Gómez-López-Hernández Syndrome
Corneal opacity, Low-set ears ORPHA:1532
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Abnormal audito... ORPHA:320401
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microcornea, Cataract, Optic disc pallor, Macular atrophy, Optic atrophy OMIM:616171
Epilepsy, Familial Temporal Lobe, 6
Bilateral tonic-clonic seizure with focal onset, Focal aware seizure, Febrile seizure (within the... OMIM:615697
Nathalie Syndrome
Cataract, Hearing impairment OMIM:255990
Wagner Vitreoretinopathy
Optic atrophy, Cataract, Peripheral tractional retinal detachment, Retinal pigment epithelial atr... OMIM:143200
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Sensorineural hearing impairment,... ORPHA:290
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Galactosemia Iv
Cataract OMIM:618881
Childhood Disintegrative Disorder
Progressive language deterioration, Anxiety, Dementia, Motor deterioration, Mental deterioration,... ORPHA:168782
Septopreoptic Holoprosencephaly
Central diabetes insipidus, Abnormal corpus callosum morphology, Abnormal midbrain morphology, Pe... ORPHA:280195
Seizures, Benign Familial Infantile, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset se... OMIM:607745
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Remnants of the hyaloid vascular system, Peters anomaly, Optic nerve aplasia, Op... OMIM:120200
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Progressive microcephaly, Agenesis of corpus callosum, Global brain atrophy, Hyperintensity of ce... ORPHA:481152
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Low-set, posteriorly rotated ears, Corneal opacity ORPHA:2370
Lecithin:Cholesterol Acyltransferase Deficiency
Proteinuria, Hemolytic anemia, Renal insufficiency, Opacification of the corneal stroma, Normochr... OMIM:245900
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Polymorphous posterior corneal dystrophy, Anterior synechiae of the anterior ch... OMIM:122000
Childhood Absence Epilepsy
Myoclonic absence seizure, Anxiety, Typical absence seizure, Febrile seizure (within the age rang... ORPHA:64280
Congenital Primary Aphakia
Congenital aphakia, Retinal dysplasia, Aplasia/Hypoplasia affecting the anterior segment of the e... ORPHA:83461
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Cerebral atrophy, Agenesis of corpus callosum, Molar tooth sign on MRI, Hypoplasia of the corpus ... ORPHA:166024
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 years) OMIM:609800
Retinitis Pigmentosa 84
Cataract, Macular coloboma, Macular atrophy OMIM:618220
Cataract 47
Glycosuria, Microcornea, Cataract OMIM:612018
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Inability to walk, Urinary inco... OMIM:617193
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Erythrokeratodermia Variabilis
Cataract, Corneal opacity, Hearing impairment, Protruding ear ORPHA:317
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure, Episodic ataxia ORPHA:53583
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Cataracts, Spastic Paraparesis, And Speech Delay
Focal motor seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Com... OMIM:619338
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Microcornea, Astigmatism, Corneal opacity, Cataract, Retinal detachment, Protruding ear, Myopic a... OMIM:152950
Coats Disease
Cataract, Abnormal anterior chamber morphology, Retinal detachment, Aplasia/Hypoplasia of the iris ORPHA:190
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
Developmental And Epileptic Encephalopathy 95
Cerebral atrophy, Cerebellar atrophy, Cerebellar vermis atrophy, Inability to walk, Inappropriate... OMIM:618143
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Buphthalmos OMIM:269400
Angelman Syndrome
Cerebral dysmyelination, Atypical absence seizure, Happy demeanor, Atonic seizure, Self-injurious... ORPHA:72
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Atypical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Cessation of hea... ORPHA:98795
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Shallow anterior chamber, Developmental cataract, Pers... ORPHA:91495
Ectopia Lentis Et Pupillae
Cataract, Retinal detachment, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Global brain atrophy, Self-injurious behavior, Inability to walk, Generalized myoclonic seizure, ... ORPHA:457351
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Microcephaly, Bilateral tonic-clonic seizure, Head-banging, Impaired toileting ability OMIM:619356
Joubert Syndrome 31
Truncal ataxia, Molar tooth sign on MRI, Cognitive impairment, Hypoplasia of the corpus callosum OMIM:617761
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Retinal pigment epithelial atrophy, Macular degeneration OMIM:270200
Hurler-Scheie Syndrome
Sensorineural hearing impairment, Abnormal nerve conduction velocity, Corneal opacity, Splenomegaly ORPHA:93476
Anterior Segment Dysgenesis 5
Anterior synechiae of the anterior chamber, Developmental cataract, Hypoplasia of the iris, Poste... OMIM:604229
Cntnap2-Related Developmental And Epileptic Encephalopathy
Low frustration tolerance, Progressive language deterioration, Cerebellar vermis atrophy, Bilater... ORPHA:163681
Joubert Syndrome 36
Molar tooth sign on MRI, Seizure OMIM:618763
Amish Lethal Microcephaly
Agenesis of corpus callosum, Microcephaly, Lissencephaly, Irritability, Bilateral tonic-clonic se... ORPHA:99742
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Cerebellar atrophy, Microcephaly, Irritability, Hypoplasia of the corpus callosum, Bilateral toni... ORPHA:544503
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Progressive microcephaly, Bilateral tonic-clonic seizure with focal o... ORPHA:488627
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Sialidosis Type 2
Hearing impairment, Corneal opacity, Splenomegaly, Nephropathy ORPHA:87876
Limbal Stem Cell Deficiency
Corneal perforation, Corneal scarring, Opacification of the corneal epithelium, Cornea verticilla... ORPHA:171673
Jeavons Syndrome
Atonic seizure, Focal seizure with eyelid myoclonia, Anxiety, Visually-induced seizure, Generaliz... ORPHA:139431
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Iris coloboma ORPHA:231736
Xk Aprosencephaly Syndrome
Microphthalmia, Polyhydramnios ORPHA:3469
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract OMIM:618660
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Granular corneal dystrophy, Corneal crystals, Central opacificat... ORPHA:98963
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Abnormal cortical gyration, Atonic seizure, Generalized myoclonic seizure, Cerebral white matter ... ORPHA:79351
Brittle Cornea Syndrome 2
Keratoglobus, Sclerocornea, Decreased corneal thickness, Flat cornea, Keratoconus, Megalocornea, ... OMIM:614170
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Sensorineural hearing impairment,... ORPHA:585
Keratoendotheliitis Fugax Hereditaria
Opacification of the corneal stroma, Conjunctival hyperemia, Keratitis OMIM:148200
Sialidosis Type 1
Urinary excretion of sialylated oligosaccharides, EEG abnormality, Sensorineural hearing impairme... ORPHA:812
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Leber Congenital Amaurosis 1
Optic disc drusen, Sensorineural hearing impairment, Cataract, Pigmentary retinopathy, Keratoconu... OMIM:204000
3-Methylglutaconic Aciduria Type 4
Cataract, 3-Methylglutaconic aciduria, Iris hypopigmentation, Thrombocytopenia, Hearing impairment ORPHA:67048
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia, Arrhinencephaly, Frontal encephalocele OMIM:218670
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Sensorineural hearing impairment, Hydronephrosis, Megaloblastic anemia, Abn... OMIM:598500
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Bilateral tonic-clonic seizure, Dementia OMIM:540000
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina OMIM:613801
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Focal-onset seizure, Microcephaly, Gait ataxia, Bilateral tonic-clonic seizure with gener... OMIM:619092
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Corneal opacity, Acute leukemia, Renal insufficiency ORPHA:281090
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Persistent pupillary membrane, Microcornea, Cataract, Corneal opacity, ... OMIM:221900
Mmep Syndrome
Microphthalmia ORPHA:3434
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Retinal detachment OMIM:613153
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Hypoplasia of the antihelix, Cataract, Abnormal antihelix morphology, Hearing impairment ORPHA:2489
Gm2 Gangliosidosis, Ab Variant
Cerebral atrophy, Cognitive impairment, Anxiety, Inappropriate behavior, Neurodegeneration, Seizu... ORPHA:309246
Retinitis Pigmentosa 37
Pigmentary retinopathy, Cataract, Cystoid macular degeneration OMIM:611131
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Autosomal Dominant Keratitis
Microcornea, Cataract, Aniridia, Abnormality of the corneal limbus, Hypoplastic iris stroma, Kera... ORPHA:2334
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Ataxia, Febrile seizure (within the age range of 3 months to 6 years), Exercise-induced myalgia, ... ORPHA:42
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Retinal detachment, Iris coloboma, Macular atrophy OMIM:212550
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis, Developmental cataract, Low-set ears, Corneal opacity, Protruding ear OMIM:616603
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Retinal degeneration, Sensorineural hearing impairment, Cataract, Geographic atrophy, Abnormal au... OMIM:619260
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Cataract, Hepatosplenomegaly OMIM:273680
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Senior-Loken Syndrome
Stage 5 chronic kidney disease, Abnormality of retinal pigmentation, Cataract, Chronic kidney dis... ORPHA:3156
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Retinal detachment, Lens subluxation OMIM:614292
Lcat Deficiency
Proteinuria, Acute kidney injury, Decreased glomerular filtration rate, Corneal opacity, Hemolyti... ORPHA:650
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Myoclonic seizure, Focal-onset seizure, Microcephaly, Pachygyria, Hypoplasia of the corpus callos... OMIM:619091
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Corneal opacity, Reduced number of corneal endothelial c... ORPHA:98974
Alpha-Mannosidosis
Abnormal helix morphology, Cataract, Corneal opacity, Splenomegaly, Macrotia, Hearing impairment ORPHA:61
Posterior Polymorphous Corneal Dystrophy
Anterior synechiae of the anterior chamber, Increased corneal curvature, Uveal ectropion, Abnorma... ORPHA:98973
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Cataract, Abnormality of the optic disc, Keratoconus, Hearin... ORPHA:65
Alpha-Mannosidosis, Adult Form
Pancytopenia, Hepatosplenomegaly, Oligosacchariduria, Cataract, Corneal opacity, Optic disc pallo... ORPHA:309288
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cataract, Optic disc pallor, Macular atrophy OMIM:614500
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Combined Oxidative Phosphorylation Defect Type 29
Myoclonic spasms, Global brain atrophy, Axonal degeneration, Primary microcephaly, Neurodegenerat... ORPHA:478029
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia OMIM:120433
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Exudative Vitreoretinopathy 6
Cataract, Retinal detachment OMIM:616468
Melas
Agenesis of corpus callosum, Memory impairment, Anxiety, Dementia, Ataxia, Focal-onset seizure, G... ORPHA:550
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Microcephaly, Irritability, Hypoplasia of the corpus callosum, Bilateral tonic-clonic seizure wit... OMIM:619076
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Central corneal dystrophy, Corneal crystals, Central opacificati... ORPHA:98962
Japanese Encephalitis
Abnormal pons morphology, Cerebral edema, Cognitive impairment, Abnormal caudate nucleus morpholo... ORPHA:79139
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Cataract, Retinal dysplasia, Optic atrophy OMIM:613154
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia OMIM:221950
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Abnormally prominent line of Schwalbe, Rieger anomaly, Senso... OMIM:109120
Dk1-Cdg
Progressive microcephaly, Focal-onset seizure, Bilateral tonic-clonic seizure, Seizure, Infantile... ORPHA:91131
Anterior Segment Dysgenesis 6
Developmental glaucoma, Abnormal Descemet membrane morphology, Corneal opacity, Posterior synechi... OMIM:617315
Corneal Dystrophy, Meesmann, 1
Corneal dystrophy, Punctate opacification of the cornea OMIM:122100
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Cataract, Phakodonesis, Lens subluxation, Iris hypope... OMIM:177650
Leber Congenital Amaurosis 2
Keratoconus, Cataract, Optic disc pallor, Pigmentary retinopathy OMIM:204100
Retinitis Pigmentosa 9
Cataract, Bone spicule pigmentation of the retina, Macular atrophy OMIM:180104
Adult Krabbe Disease
Abnormal pons morphology, Abnormal corpus callosum morphology, Abnormal midbrain morphology, Ment... ORPHA:206448
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Corneal Endothelial Dystrophy
Congenital corneal dystrophy, Increased corneal thickness, Opacification of the corneal stroma, A... OMIM:217700
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Cataract, Conductive hearing impairment, Sensorineural heari... ORPHA:791
Ritscher-Schinzel Syndrome 4
Agenesis of corpus callosum, Athetosis, Ataxia, Focal-onset seizure, Dysgenesis of the hippocampu... OMIM:619435
Microphthalmia, Isolated, With Coloboma 9
Low-set ears, Sclerocornea, Microcornea, Retinal detachment, Ocular anterior segment dysgenesis, ... OMIM:615145
Multicentric Carpotarsal Osteolysis Syndrome
Stage 5 chronic kidney disease, Corneal opacity, Renal insufficiency, Proteinuria OMIM:166300
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Inability to walk, Focal impaired awareness seizure, Polymicrogyria, Seizure, Bilateral tonic-clo... ORPHA:488613
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia, Encephalocele OMIM:613885
Early Infantile Epileptic Encephalopathy
Cerebellar atrophy, Atonic seizure, Generalized clonic seizure, Self-injurious behavior, Focal-on... ORPHA:1934
Craniotelencephalic Dysplasia
Microphthalmia, Frontal encephalocele, Septo-optic dysplasia, Arrhinencephaly ORPHA:1528
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Macular Corneal Dystrophy
Punctate opacification of the cornea, Hyperopic astigmatism, Decreased corneal thickness, Corneal... ORPHA:98969
Scheie Syndrome
Corneal opacity, Retinal degeneration OMIM:607016
Zellweger Syndrome
EEG abnormality, Optic atrophy, Posterior embryotoxon, Hydronephrosis, Cataract, Corneal opacity,... ORPHA:912
Retinitis Pigmentosa 4
Pigmentary retinopathy, Cataract OMIM:613731
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity, 3-Methylglutaconic aciduria, Optic nerve hypoplasia, Optic atrophy ORPHA:496790
Intellectual Developmental Disorder, X-Linked 98
Self-biting, Tonic seizure, Atonic seizure, Anxiety, Generalized myoclonic seizure, Ataxia, Aggre... OMIM:300912
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Bilateral tonic-clonic seizure, Leukoencephalopathy, Corpus callosum atrophy, Secondary microcephaly OMIM:608809
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Corneal guttata, Cataract, Retinal detachment OMIM:193230
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized-onset seizure, Generalized myoclonic seizure, Hypoplasia of the pons, Bilateral tonic... OMIM:615501
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pleural effusion, Polyhydramnios, Generalized edema, Pericardial effusion OMIM:618773
Intellectual Developmental Disorder, Autosomal Dominant 34
Bilateral tonic-clonic seizure, Broad-based gait, Secondary microcephaly OMIM:616351
Epithelial Recurrent Erosion Dystrophy
Irregular astigmatism, Subepithelial corneal opacities, Corneal dystrophy, Corneal scarring, Kera... ORPHA:293381
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Papillorenal Syndrome
Renal cyst, Horseshoe kidney, Nephrolithiasis, Retinal coloboma, Proteinuria, Renal hypoplasia, C... OMIM:120330
Scheie Syndrome
Sensorineural hearing impairment, Abnormal nerve conduction velocity, Corneal opacity, Splenomega... ORPHA:93474
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Occipital encephalocele ORPHA:324416
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
X-Linked Intellectual Disability Due To Gria3 Mutations
Status epilepticus, Aggressive behavior, Self-mutilation, Hypoplasia of the corpus callosum, Bila... ORPHA:364028
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Multifocal seizures, Global brain atrophy, Generalized myoclonic seizure, ... ORPHA:480864
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Bilateral tonic-clonic seizure, Dilation of lateral ventricles OMIM:619278
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos OMIM:608763
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity OMIM:601455
Joubert Syndrome 4
Cognitive impairment, Thickened superior cerebellar peduncle, Molar tooth sign on MRI, Ataxia, El... OMIM:609583
Microphthalmia, Isolated 5
Microphthalmia, Cystoid macular edema OMIM:611040
Cataract 1, Multiple Types
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... OMIM:116200
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Prolonged brainstem... OMIM:601596
Slc35A2-Cdg
Cerebral atrophy, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Abnormal midb... ORPHA:356961
Anterior Segment Dysgenesis 1
Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacification of the corneal str... OMIM:107250
Walker-Warburg Syndrome
Low-set ears, Optic atrophy, Microcornea, Cataract, Corneal opacity, Retinal detachment, Hypoplas... ORPHA:899
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
De Sanctis-Cacchione Syndrome
Cerebral atrophy, Global brain atrophy, Mental deterioration, Axonal degeneration, Ataxia, Microc... OMIM:278800
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cataract, Cochlear degeneration ORPHA:3233
Pontocerebellar Hypoplasia Type 2
Abnormal cortical gyration, Dysplastic corpus callosum, Progressive microcephaly, Generalized myo... ORPHA:2524
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Low-set ears, Corneal opacity, Antecubital pterygium, Overfolded helix, Axil... OMIM:619339
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Laurence-Moon Syndrome
Sensorineural hearing impairment, Cataract, Hypoplasia of penis, Low-set, posteriorly rotated ear... ORPHA:2377
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Choreoacanthocytosis
Abnormal hippocampus morphology, Aggressive behavior, Apathy, Small basal ganglia, Hair-pulling, ... ORPHA:2388
Usher Syndrome Type 3
Sensorineural hearing impairment, Cataract, Astigmatism, Iris hypopigmentation, Abnormal cochlea ... ORPHA:231183
Mucolipidosis Type Iv
EEG abnormality, Abnormality of retinal pigmentation, Corneal opacity ORPHA:578
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Morning Glory Disc Anomaly
Optic disc coloboma, Abnormality of retinal pigmentation, Cataract, Retinal detachment ORPHA:35737
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Aplasia/Hypoplasia of the lens, Cataract, Hypoplasia of penis, Hypospadias ORPHA:1381
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Sudden cardiac death, Lethargy, Microcephaly, Exercise-induced myalgia, Bilateral tonic-clonic se... OMIM:201475
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Cataract, Developmental cataract, Hearing impairment OMIM:614482
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Cerebral atrophy, Agenesis of corpus callosum, Inappropriate laughter, Microcephaly, Hypoplasia o... OMIM:615802
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Orbital encephalocele OMIM:164180
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Lymphedema, Pericardial effusion, Edema, Facial edema, Pulmonary edema OMIM:617300
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma, Increased urinary disaccharide excretion OMIM:271630
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Large earlobe, Leukopenia, Low-set ears, Micropenis, Hydronephrosis, Astigmatism, Corneal opacity... OMIM:301056
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Pontocerebellar Hypoplasia, Type 2E
Cerebral atrophy, Cerebellar atrophy, Tonic seizure, Progressive microcephaly, Microcephaly, Irri... OMIM:615851
Autosomal Recessive Stickler Syndrome
Cataract, Sensorineural hearing impairment, Astigmatism, Retinal detachment ORPHA:250984
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebellar atrophy, Hypoplasia of the corpus callosum, Ataxia, Primary microcephaly, Febrile seiz... ORPHA:496641
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
An