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Gene: Eef1d MGI:1913906

Gene Summary

Name:

eukaryotic translation elongation factor 1 delta

Synonyms:

1700026P12Rik, 5730529A16Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
small kidney	Eef1d^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal auditory brainstem response	Eef1d^em1(IMPC)Mbp	HET	Early adult	5.64×10^-05
edema	Eef1d^em1(IMPC)Mbp	HET	E15.5	0.00
increased neutrophil cell number	Eef1d^em1(IMPC)Mbp	HET	Early adult	9.48×10^-05
edema	Eef1d^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal vitreous body morphology	Eef1d^em1(IMPC)Mbp	HET	Early adult	1.24×10^-06
abnormal skin morphology	Eef1d^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal blood vessel morphology	Eef1d^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal eye morphology	Eef1d^em1(IMPC)Mbp	HET	Early adult	0.00
preweaning lethality, complete penetrance	Eef1d^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal placenta morphology	Eef1d^em1(IMPC)Mbp	HET	E15.5	0.00
cataract	Eef1d^em1(IMPC)Mbp	HET	Early adult	2.65×10^-07
abnormal placenta vasculature	Eef1d^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal placenta morphology	Eef1d^em1(IMPC)Mbp	HOM	E15.5	0.00
embryonic growth retardation	Eef1d^em1(IMPC)Mbp	HOM	E15.5	0.00
corneal opacity	Eef1d^em1(IMPC)Mbp	HET	Early adult	6.84×10^-06
microphthalmia	Eef1d^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal kidney morphology	Eef1d^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal retina morphology	Eef1d^em1(IMPC)Mbp	HET	Early adult	8.53×10^-06

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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.

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Gross Morphology Embryo E14.5-E15.5

Images

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 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.

Human diseases associated with Eef1d (0 diseases)
Human diseases predicted to be associated with Eef1d (1218 diseases)

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	Matching phenotypes	Source
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	Mental deterioration, Cerebellar atrophy, Cerebral atrophy, Irritability, Bilateral tonic-clonic ...	OMIM:610003
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Ataxia, Cerebral cortical atrophy, Mental deterioration, Depression, Cerebellar atrophy, Seizure,...	OMIM:615362
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Ataxia, Mental deterioration, Depression, Cerebral atrophy, Myoclonus, Status epilepticus without...	OMIM:204300
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Ataxia, Myoclonic seizure, Depression, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Increa...	OMIM:162350
Epilepsy, Progressive Myoclonic, 8	Progressive neurologic deterioration, Cerebellar atrophy, Falls, Limb ataxia, Myoclonus, Truncal ...	OMIM:616230
Developmental And Epileptic Encephalopathy 15	Myoclonic seizure, Inability to walk, Focal clonic seizure, Epileptic spasm, Irritability, Tonic ...	OMIM:615006
Lennox-Gastaut Syndrome	Mental deterioration, Falls, Abnormal brainstem morphology, Myoclonus, Focal-onset seizure, Irrit...	ORPHA:2382
Epilepsy, Familial Temporal Lobe, 1	Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar...	OMIM:600512
Developmental And Epileptic Encephalopathy 31A	Self-injurious behavior, Myoclonic seizure, Difficulty walking, Epileptic spasm, Inability to wal...	OMIM:616346
Epilepsy, Progressive Myoclonic 7	Mental deterioration, Myoclonic seizure, Cerebellar atrophy, Myoclonus, Bilateral tonic-clonic se...	OMIM:616187
Polymicrogyria, Bilateral Temporooccipital	Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Aggressive beh...	OMIM:612691
Epilepsy, Nocturnal Frontal Lobe, 2	Aggressive behavior, Depression, Status epilepticus, Bilateral tonic-clonic seizure	OMIM:603204
Developmental And Epileptic Encephalopathy 104	Self-injurious behavior, Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizur...	OMIM:619970
Dravet Syndrome	Ataxia, Mental deterioration, Myoclonic seizure, Focal impaired awareness seizure, Generalized no...	OMIM:607208
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Developmental And Epileptic Encephalopathy 9	Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca...	OMIM:300088
Epilepsy, Progressive Myoclonic, 12	Mental deterioration, Depression, Difficulty walking, Myoclonus, Dysmetria, Attention deficit hyp...	OMIM:619191
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay	Inability to walk, Aggressive behavior, Attention deficit hyperactivity disorder, Bilateral tonic...	OMIM:619639
Landau-Kleffner Syndrome	Emotional lability, Bilateral tonic-clonic seizure with generalized onset, Social and occupationa...	ORPHA:98818
Stickler Syndrome Type 2	Cataract, Retinopathy, Sensorineural hearing impairment, Abnormal vitreous humor morphology, Reti...	ORPHA:90654
Developmental And Epileptic Encephalopathy 43	Ataxia, Myoclonic seizure, Infantile spasms, Attention deficit hyperactivity disorder, Hyperactiv...	OMIM:617113
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Gait ataxia, Recurrent hand flap...	OMIM:617862
Developmental And Epileptic Encephalopathy 98	Cerebellar atrophy, Cerebral atrophy, Refractory status epilepticus, Focal-onset seizure, Attenti...	OMIM:619605
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Seizure, Inflexible adherence to routines, Bilateral tonic-clonic seizure, ...	OMIM:608636
Lipedema	Edema	OMIM:614103
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Emotional lability, Aggressive behavior, Bilateral tonic-clonic seizure, Motor stereotypy, Status...	OMIM:617171
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract, Hearing impairment, Rod-cone dystrophy	OMIM:300719
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Abnormal antihelix morphology, Hearing impairment, Chorioretinal coloboma	OMIM:274205
Succinic Semialdehyde Dehydrogenase Deficiency	Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure, Ataxia	ORPHA:22
Generalized Epilepsy With Febrile Seizures-Plus	Ataxia, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Febrile seizur...	ORPHA:36387
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures	Myoclonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure	OMIM:619964
Continuous Spikes And Waves During Sleep	Myoclonic absence seizure, Typical absence seizure, Seizure, Focal clonic seizure, Focal-onset se...	ORPHA:725
Cataract 21, Multiple Types	Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Retinal detach...	OMIM:610202
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Myoclonic seizure, Cerebellar atrophy, Cerebral atrophy, Bilateral tonic-clonic seizure with foca...	OMIM:611726
Galactosialidosis	Cherry red spot of the macula, Hearing impairment, Corneal opacity	ORPHA:351
Corneal Dystrophy-Perceptive Deafness Syndrome	Sensorineural hearing impairment, Corneal dystrophy, Corneal opacity	ORPHA:1490
Developmental And Epileptic Encephalopathy 112	Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Cerebral a...	OMIM:620537
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Mental deterioration, Memory impairment, Frontotemporal cerebral atrophy, I...	ORPHA:275864
Developmental And Epileptic Encephalopathy 11	Status epilepticus, Global brain atrophy, Bilateral tonic-clonic seizure with focal onset, Bilate...	OMIM:613721
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Seizure, Pseudobulbar paralysis, Aggressive behavior, Bilateral t...	ORPHA:208441
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Optic atrophy, Chorioretinal coloboma, Sensorineural hearing impairment, Hematuria, Pos...	ORPHA:1473
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures	Aggressive behavior, Bilateral tonic-clonic seizure, Ataxia	OMIM:617709
Developmental And Epileptic Encephalopathy 13	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:614558
Corneal Dystrophy, Endothelial, X-Linked	Band keratopathy, Corneal dystrophy, Corneal opacity	OMIM:300779
Stxbp1-Related Encephalopathy	Ataxia, Generalized myoclonic seizure, Focal impaired awareness seizure, Seizure, Inability to wa...	ORPHA:599373
Female Restricted Epilepsy With Intellectual Disability	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	ORPHA:101039
Developmental And Epileptic Encephalopathy 53	Convulsive status epilepticus, Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Bilate...	OMIM:617389
Epilepsy, Progressive Myoclonic, 9	Status epilepticus, Myoclonus, Gait ataxia, Agenesis of corpus callosum, Bilateral tonic-clonic s...	OMIM:616540
Myoclonic Epilepsy Of Infancy	Mental deterioration, Generalized non-motor (absence) seizure, Febrile seizure (within the age ra...	ORPHA:86909
Developmental And Epileptic Encephalopathy 59	Self-injurious behavior, Inability to walk, Focal clonic seizure, Infantile spasms, Tonic seizure...	OMIM:617904
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract, Optic atrophy	ORPHA:2253
Mitochondrial Complex I Deficiency, Nuclear Type 12	Cerebellar atrophy, Seizure, Gait imbalance, Myoclonus, Bilateral tonic-clonic seizure, Ataxia, D...	OMIM:301020
Progressive Myoclonic Epilepsy Type 3	Cerebellar atrophy, Focal myoclonic seizure, Limb myoclonus, Febrile seizure (within the age rang...	ORPHA:263516
Epilepsy, Progressive Myoclonic, 6	Ataxia, Memory impairment, Atonic seizure, Generalized non-motor (absence) seizure, Difficulty wa...	OMIM:614018
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal dystrophy, Corneal opacity	OMIM:609140
Developmental And Epileptic Encephalopathy 24	Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the a...	OMIM:615871
Developmental And Epileptic Encephalopathy 33	Myoclonic seizure, Typical absence seizure, Seizure, Epileptic spasm, Aggressive behavior, Bilate...	OMIM:616409
X-Linked Retinoschisis	Cataract, Retinoschisis	ORPHA:792
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Attention deficit ...	OMIM:245570
Epilepsy, Familial Temporal Lobe, 5	Visually-induced seizure, Focal aware seizure, Focal impaired awareness seizure, Bilateral tonic-...	OMIM:614417
Developmental And Epileptic Encephalopathy 67	Cerebellar atrophy, Generalized non-motor (absence) seizure, Recurrent hand flapping, Focal hemic...	OMIM:618141
Intellectual Developmental Disorder, Autosomal Dominant 69	Attention deficit hyperactivity disorder, Bilateral tonic-clonic seizure	OMIM:617863
Benign Familial Infantile Epilepsy	Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a...	ORPHA:306
Developmental And Epileptic Encephalopathy 26	Focal impaired awareness seizure, Infantile spasms, Stereotypical hand wringing, Bilateral tonic-...	OMIM:616056
Lissencephaly 3	Seizure, Hypoplasia of the brainstem, Agenesis of corpus callosum, Generalized tonic seizure, Bil...	OMIM:611603
Spinocerebellar Ataxia 48	Mental deterioration, Depression, Cerebellar atrophy, Gait ataxia, Dysmetria, Irritability, Bilat...	OMIM:618093
Developmental And Epileptic Encephalopathy 34	Seizure, Cerebral atrophy, Inability to walk, Bilateral tonic-clonic seizure with focal onset, Fo...	OMIM:616645
Cataract-Microcornea Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	ORPHA:1377
Isolated Focal Cortical Dysplasia	Focal impaired awareness seizure, Seizure, Generalized-onset seizure, Epileptic spasm, Infantile ...	ORPHA:65683
Optic Atrophy 3, Autosomal Dominant	Cataract, Optic disc pallor, Optic atrophy, Hearing impairment	OMIM:165300
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Broad-based gait, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Aggressive...	OMIM:619157
Autosomal Dominant Epilepsy With Auditory Features	Focal autonomic seizure, Depression, Generalized-onset seizure, Bilateral tonic-clonic seizure wi...	ORPHA:101046
Myoclonic Epilepsy Of Unverricht And Lundborg	Mental deterioration, Generalized non-motor (absence) seizure, Myoclonus, Bilateral tonic-clonic ...	OMIM:254800
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay	Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb...	OMIM:620465
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Seizure, Inability to walk, Dysplastic corpus callosum, Bilateral tonic-clonic seizure, Ataxia, U...	OMIM:620317
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Self-injurious behavior, Cerebellar atrophy, Cerebral atrophy, Febrile seizure (within the age ra...	OMIM:618917
Myoclonic Epilepsy, Familial Infantile	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, Gait ataxia,...	OMIM:605021
Epilepsy, Familial Temporal Lobe, 8	Focal aware sensory seizure with auditory features, Bilateral tonic-clonic seizure with focal ons...	OMIM:616461
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Wagner Vitreoretinopathy	Peripheral tractional retinal detachment, Cataract, Optic atrophy, Exudative vitreoretinopathy, V...	OMIM:143200
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Generalized non-motor (absence) seizure, Seizure, Myoclonus, Aggressive behavior, Bilateral tonic...	OMIM:618357
Polymicrogyria, Bilateral Perisylvian, X-Linked	Atypical absence seizure, Cognitive impairment, Bilateral tonic-clonic seizure, Pseudobulbar para...	OMIM:300388
Ceroid Lipofuscinosis, Neuronal, 3	Seizure, Cerebral atrophy, Myoclonus, Loss of ambulation, Increased extraneuronal autofluorescent...	OMIM:204200
Developmental And Epileptic Encephalopathy 74	Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon...	OMIM:618396
Congenital Disorder Of Glycosylation, Type Iiy	Cerebral cortical atrophy, Agenesis of corpus callosum, Atrophy/Degeneration affecting the brains...	OMIM:620200
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar atrophy, Inability to walk, Gait ataxia, Dysmetria, Tonic seizure, Gait disturbance, H...	OMIM:618090
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ...	OMIM:617319
Pontocerebellar Hypoplasia, Type 14	Myoclonic seizure, Hypoplasia of the pons, Hypoplasia of the brainstem, Infantile spasms, Agenesi...	OMIM:619301
Birdshot Chorioretinopathy	Cataract, Choroidal neovascularization, Abnormal chorioretinal morphology, Retinal thinning, Epir...	ORPHA:179
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Focal impaired awareness seizure, Cerebellar atrophy, Seizure, Difficulty walking, Inability to w...	ORPHA:330050
Developmental Delay With Or Without Epilepsy	Ataxia, Myoclonic seizure, Cerebellar atrophy, Seizure, Generalized non-motor (absence) seizure, ...	OMIM:620540
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Myoclonic seizure, Seizure, Cerebral atrophy, Inability to walk, Epileptic spasm, Bruxism, Myoclo...	OMIM:618497
Bardet-Biedl Syndrome 18	Cataract, Stage 5 chronic kidney disease, Renal insufficiency, Rod-cone dystrophy, Retinal dystrophy	OMIM:615995
Epilepsy, Idiopathic Generalized, Susceptibility To, 3	Seizure, Bilateral tonic-clonic seizure	OMIM:608762
Salt And Pepper Developmental Regression Syndrome	Global brain atrophy, Myoclonus, Irritability, Bilateral tonic-clonic seizure, Status epilepticus...	OMIM:609056
Polymicrogyria With Optic Nerve Hypoplasia	Seizure, Hypoplasia of the brainstem, Infantile spasms, Agenesis of corpus callosum, Dysplastic c...	ORPHA:250972
Rasmussen Subacute Encephalitis	Emotional lability, Bilateral tonic-clonic seizure with generalized onset, Cognitive impairment, ...	ORPHA:1929
Cerebellar Atrophy, Developmental Delay, And Seizures	Myoclonic seizure, Cerebellar atrophy, Bilateral tonic-clonic seizure with focal onset	OMIM:617643
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Myoclonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizur...	OMIM:617831
Familial Focal Epilepsy With Variable Foci	Infantile spasms, Focal-onset seizure, Pain, Deja vu aura, Nocturnal seizures, Bilateral tonic-cl...	ORPHA:98820
Pontocerebellar Hypoplasia, Type 15	Myoclonic seizure, Hypoplasia of the brainstem, Infantile spasms, Agenesis of corpus callosum, Bi...	OMIM:619302
Guanidinoacetate Methyltransferase Deficiency	Ataxia, Self-injurious behavior, Generalized myoclonic seizure, Seizure, Aggressive behavior, Hyp...	ORPHA:382
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ...	OMIM:607682
Spinocerebellar Ataxia, Autosomal Recessive 12	Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Bilateral tonic-clonic s...	OMIM:614322
Yoon-Bellen Neurodevelopmental Syndrome	Cerebral atrophy, Inability to walk, Infantile spasms, Bilateral tonic-clonic seizure, Ataxia, Ge...	OMIM:619701
Unilateral Hemispheric Polymicrogyria	Generalized myoclonic seizure, Lateral ventricle dilatation, Infantile spasms, Focal atonic seizu...	ORPHA:101071
Developmental And Epileptic Encephalopathy 63	Cerebral cortical atrophy, Myoclonic seizure, Seizure, Generalized-onset seizure, Epileptic spasm...	OMIM:617976
Episodic Ataxia, Type 9	Seizure, Episodic ataxia, Tonic seizure, Bilateral tonic-clonic seizure, Clonic seizure, Status e...	OMIM:618924
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Mental deterioration, Pseudobulbar paralysis, Neck pain, Lower limb pain, Emotional lability, Irr...	ORPHA:199354
Perioral Myoclonia With Absences	Falls, Generalized non-motor (absence) seizure, Focal seizure with eyelid myoclonia, Chin myoclon...	ORPHA:139426
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 6B	Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Inability ...	OMIM:619317
Lissencephaly 10	Myoclonic seizure, Focal impaired awareness seizure, Depression, Generalized non-motor (absence) ...	OMIM:618873
Developmental And Epileptic Encephalopathy 99	Frontotemporal cerebral atrophy, Cerebellar atrophy, Generalized non-motor (absence) seizure, Epi...	OMIM:619606
Foxg1 Syndrome	Difficulty walking, Inability to walk, Bruxism, Infantile spasms, Myoclonus, Focal-onset seizure,...	ORPHA:561854
Succinic Semialdehyde Dehydrogenase Deficiency	Self-injurious behavior, Generalized myoclonic seizure, Cerebellar atrophy, Seizure, Generalized ...	OMIM:271980
Developmental And Epileptic Encephalopathy 37	Cerebellar atrophy, Cerebral atrophy, Myoclonus, Focal hemiclonic seizure, Gait disturbance, Bila...	OMIM:616981
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
Late Infantile Neuronal Ceroid Lipofuscinosis	Mental deterioration, Obsessive-compulsive trait, Motor deterioration, Ataxia, Motor stereotypy, ...	ORPHA:168491
Corneal Dystrophy, Groenouw Type I	Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Self-injurious behavior, Memory impairment, Inappropriate behavior, Seizure, Generalized-onset se...	OMIM:619827
Unilateral Focal Polymicrogyria	Mental deterioration, Memory impairment, Seizure, Bilateral tonic-clonic seizure with focal onset...	ORPHA:268947
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:3177
Nathalie Syndrome	Cataract, Sensorineural hearing impairment	ORPHA:2663
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Myoclonus, Gait ataxia, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, At...	OMIM:618587
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects	Broad-based gait, Global brain atrophy, Inability to walk, Infantile spasms, Bilateral tonic-clon...	OMIM:618470
Kohlschutter-Tonz Syndrome	Myoclonic seizure, Cerebral atrophy, Seizure, Bilateral tonic-clonic seizure, Ataxia, Dementia, F...	OMIM:226750
Seizures, Benign Familial Neonatal, 2	Focal clonic seizure, Bilateral tonic-clonic seizure	OMIM:121201
Malignant Migrating Focal Seizures Of Infancy	Myoclonic seizure, Cerebral atrophy, Inability to walk, Epileptic spasm, Bilateral tonic-clonic s...	ORPHA:293181
Seizures, Benign Familial Infantile, 5	Focal impaired awareness seizure, Bilateral tonic-clonic seizure	OMIM:617080
Developmental And Epileptic Encephalopathy 109	Myoclonic seizure, Typical absence seizure, Crouch gait, Myoclonus, Gait ataxia, Focal hemiclonic...	OMIM:620145
Developmental And Epileptic Encephalopathy 12	Epileptic spasm, Tonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:613722
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly	Bilateral tonic-clonic seizure, Seizure	OMIM:614499
Developmental And Epileptic Encephalopathy 91	Myoclonic seizure, Seizure, Cerebral atrophy, Epileptic spasm, Tonic seizure, Bilateral tonic-clo...	OMIM:617711
Epilepsy, Familial Adult Myoclonic, 3	Difficulty walking, Myoclonus, Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:613608
Developmental And Epileptic Encephalopathy 30	Bilateral tonic-clonic seizure, Motor stereotypy, Generalized myoclonic seizure, Seizure	OMIM:616341
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Status epilepticus, Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure	OMIM:266100
Developmental And Epileptic Encephalopathy 54	Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral...	OMIM:617391
Epilepsy, Myoclonic Juvenile	Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral to...	OMIM:254770
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Cerebellar atrophy, Falls, Cerebral atrophy, Seizure, Impaired tandem gait, Gait disturbance, Bil...	OMIM:300423
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay	Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure, Focal sensory seizur...	OMIM:615400
Developmental And Epileptic Encephalopathy 94	Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t...	OMIM:615369
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Cone-Rod Dystrophy 16	Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh...	OMIM:614500
Epilepsy, Familial Focal, With Variable Foci 4	Focal impaired awareness seizure, Focal-onset seizure, Attention deficit hyperactivity disorder, ...	OMIM:617935
Clcn4-Related X-Linked Intellectual Disability Syndrome	Self-injurious behavior, Cerebral cortical atrophy, Depression, Seizure, Generalized non-motor (a...	ORPHA:485350
Auditory Neuropathy, Autosomal Dominant 1	Abnormal auditory evoked potentials, Sensorineural hearing impairment	OMIM:609129
Epilepsy, Familial Temporal Lobe, 3	Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset	OMIM:611630
Macular Dystrophy, Corneal	Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy, Macular dyst...	OMIM:217800
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Morm Syndrome	Micropenis, Cataract, Retinal atrophy, Retinal dystrophy	ORPHA:75858
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t...	OMIM:604403
Epilepsy, Familial Adult Myoclonic, 4	Bilateral tonic-clonic seizure, Myoclonus, Seizure	OMIM:615127
Gombo Syndrome	Microphthalmia	OMIM:233270
Dystonia 22, Juvenile-Onset	Mental deterioration, Cerebellar atrophy, Dysmetria, Bilateral tonic-clonic seizure, Dysdiadochok...	OMIM:620453
Intellectual Developmental Disorder, X-Linked 1	Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Atonic seizure	OMIM:309530
Neurodevelopmental Disorder With Involuntary Movements	Self-injurious behavior, Cerebellar atrophy, Cerebral atrophy, Infantile spasms, Bilateral tonic-...	OMIM:617493
Retinitis Pigmentosa 40	Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone...	OMIM:613801
Episodic Ataxia, Type 5	Typical absence seizure, Febrile seizure (within the age range of 3 months to 6 years), Episodic ...	OMIM:613855
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Coats Disease	Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ...	ORPHA:190
Bilateral Generalized Polymicrogyria	Self-injurious behavior, Generalized myoclonic seizure, Typical absence seizure, Lateral ventricl...	ORPHA:208447
Spastic Ataxia 5, Autosomal Recessive	Cerebellar atrophy, Dysdiadochokinesis, Myoclonus, Dysmetria, Spastic ataxia, Cognitive impairmen...	OMIM:614487
Cortical Malformations, Occipital	Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure	OMIM:614115
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Intellectual Developmental Disorder, Autosomal Dominant 5	Bilateral tonic-clonic seizure, Myoclonic absence seizure, Brain atrophy, Seizure	OMIM:612621
Benign Familial Neonatal-Infantile Seizures	Mental deterioration, Neonatal seizure, Episodic ataxia, Focal clonic seizure, Tonic seizure, Bil...	ORPHA:140927
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Cerebellar atrophy, Seizure, Abnormal lateral ventricle morphology, Gait imbalance, Gait ataxia, ...	ORPHA:488635
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Corneal opacity	ORPHA:2432
Congenital Disorder Of Glycosylation, Type Iaa	Cerebral cortical atrophy, Status epilepticus, Bilateral tonic-clonic seizure, Pseudobulbar paral...	OMIM:617082
Developmental And Epileptic Encephalopathy 47	Cerebellar atrophy, Inability to walk, Limb ataxia, Focal-onset seizure, Tonic seizure, Gait dist...	OMIM:617166
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Myoclonus, Bilateral tonic-clonic seizure	OMIM:604827
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract, Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Epilepsy, Idiopathic Generalized, Susceptibility To, 12	Bilateral tonic-clonic seizure	OMIM:614847
Seizures, Benign Familial Neonatal, 3	Bilateral tonic-clonic seizure	OMIM:608217
Lattice Corneal Dystrophy Type I	Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur...	ORPHA:98964
Developmental And Epileptic Encephalopathy 41	Myoclonic seizure, Cerebral atrophy, Inability to walk, Epileptic spasm, Irritability, Status epi...	OMIM:617105
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Focal motor seizure, Focal hemifacial clonic seizure, Myoclonus, Bilateral tonic-clonic seizure	OMIM:608105
Developmental And Epileptic Encephalopathy 93	Myoclonic seizure, Cerebellar atrophy, Cerebral atrophy, Febrile seizure (within the age range of...	OMIM:618012
Retinitis Pigmentosa 9	Cataract, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atr...	OMIM:180104
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Myoclonic seizure, Brain atrophy, Myoclonus, Irritability, Tonic seizure, Bilateral tonic-clonic ...	OMIM:617290
Aminoacylase 1 Deficiency	Cerebral cortical atrophy, Cerebellar atrophy, Seizure, Cerebral atrophy, Hyperactivity, Bilatera...	OMIM:609924
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin...	OMIM:309300
Generalized Epilepsy With Febrile Seizures Plus, Type 9	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:616172
Norrie Disease	Retinal fold, Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal strom...	OMIM:310600
Developmental And Epileptic Encephalopathy 52	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, Focal hemicl...	OMIM:617350
Epilepsy, Familial Adult Myoclonic, 1	Generalized myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:601068
Glycosylphosphatidylinositol Biosynthesis Defect 15	Myoclonic seizure, Cerebellar atrophy, Generalized non-motor (absence) seizure, Inability to walk...	OMIM:617810
Rolandic Epilepsy	Depression, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic...	ORPHA:1945
Rolandic Epilepsy-Speech Dyspraxia Syndrome	Bilateral tonic-clonic seizure with focal onset, Short attention span, Focal-onset seizure, Seizure	ORPHA:163721
Developmental And Epileptic Encephalopathy 27	Myoclonic seizure, Seizure, Epileptic spasm, Infantile spasms, Myoclonus, Bilateral tonic-clonic ...	OMIM:616139
Developmental And Epileptic Encephalopathy 42	Ataxia, Convulsive status epilepticus, Myoclonic seizure, Tonic seizure, Focal tonic seizure, Bil...	OMIM:617106
Juvenile Neuronal Ceroid Lipofuscinosis	Depression, Cerebellar atrophy, Cerebral atrophy, Seizure, Dementia, Emotional lability, Loss of ...	ORPHA:79264
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia, Corneal opacity	ORPHA:1980
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Myopia, High, With Cataract And Vitreoretinal Degeneration	Cataract, Vitreous floaters, Lattice retinal degeneration, Retinal detachment, Peripheral vitreor...	OMIM:614292
Retinitis Pigmentosa 4	Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spi...	OMIM:613731
Epilepsy, Idiopathic Generalized, Susceptibility To, 8	Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont...	OMIM:612899
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Myoclonus, Short attention span, Dysmetria, Oppositional defiant disorder, Im...	OMIM:619028
Febrile Seizures, Familial, 11	Hippocampal atrophy, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile se...	OMIM:614418
Preeclampsia/Eclampsia 1	Intrauterine growth retardation, Edema	OMIM:189800
Retinitis Pigmentosa 84	Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone...	OMIM:618220
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Mental deterioration, Typical absence seizure, Limb myoclonus, Atonic seizure, Seizure, Difficult...	ORPHA:2590
Thiel-Behnke Corneal Dystrophy	Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn...	ORPHA:98960
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Cerebrooculofacioskeletal Syndrome 3	Edema, Microphthalmia	OMIM:616570
Severe Canavan Disease	Oral-pharyngeal dysphagia, Seizure, Inability to walk, Irritability, Lethargy, Bilateral tonic-cl...	ORPHA:314911
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane, Retinal detachment	OMIM:620253
Centralopathic Epilepsy	Nocturnal seizures, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure	OMIM:117100
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Alternating Hemiplegia Of Childhood 1	Choreoathetosis, Bilateral tonic-clonic seizure	OMIM:104290
Lafora Disease	Mental deterioration, Focal sensory seizure with visual features, Emotional lability, Ataxia, Aty...	ORPHA:501
Optic Atrophy 8	Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia...	OMIM:616648
Microphthalmia, Isolated 5	Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Bone spicule pigmentation of th...	OMIM:611040
Developmental And Epileptic Encephalopathy 23	Hypoplasia of the pons, Infantile spasms, Myoclonus, Tonic seizure, Bilateral tonic-clonic seizur...	OMIM:615859
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonu...	ORPHA:231736
Febrile Seizures, Familial, 4	Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi...	OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17	Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi...	OMIM:602477
Febrile Seizures, Familial, 1	Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi...	OMIM:121210
Febrile Seizures, Familial, 5	Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi...	OMIM:609255
Febrile Seizures, Familial, 6	Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi...	OMIM:609253
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract, Sensorineural hearing impairment	OMIM:613076
Microphthalmia/Coloboma 12	Peters anomaly, Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Vesicoureteral ...	OMIM:120200
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Mucolipidosis Iv	Optic atrophy, Opacification of the corneal stroma, Retinal degeneration, Corneal opacity	OMIM:252650
Vitreoretinal Degeneration, Snowflake Type	Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ...	OMIM:193230
Epilepsy, Idiopathic Generalized, Susceptibility To, 14	Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont...	OMIM:616685
Retinopathy Of Prematurity	Cataract, Abnormal macular morphology, Retinal arteriolar tortuosity, Tractional retinal detachme...	ORPHA:90050
Epilepsy, Idiopathic Generalized	Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se...	OMIM:600669
Charcot-Marie-Tooth Disease, Type 4B1	Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy	OMIM:601382
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Cataract, Attenuation of retinal blood vessels, Attached earlobe, Bone spicule pigmentation of th...	OMIM:616108
Leber Congenital Amaurosis 2	Cataract, Keratoconus, Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrop...	OMIM:204100
Generalized Epilepsy With Febrile Seizures Plus, Type 7	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:613863
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Seizure, Generalized-onset seizure, Self-mutilation, Aggressive behavior, Hyperactivity, Bilatera...	OMIM:604317
Microphthalmia/Coloboma 5	Anophthalmia, Bilateral microphthalmos, Microphthalmia	OMIM:611638
Retinitis Pigmentosa 13	Attenuation of retinal blood vessels, Asteroid hyalosis, Retinal degeneration, Subcapsular catara...	OMIM:600059
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	EEG abnormality, Developmental cataract, Corneal opacity, Micropenis, Hypospadias	OMIM:618815
Infantile Cerebellar-Retinal Degeneration	Cerebral cortical atrophy, Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Athetosis,...	OMIM:614559
Corneal Dystrophy And Perceptive Deafness	Opacification of the corneal stroma, Corneal dystrophy, Sensorineural hearing impairment	OMIM:217400
Familial Exudative Vitreoretinopathy	Cataract, Macular edema, Hearing impairment, Vitreoretinopathy, Subretinal fluid, Tractional reti...	ORPHA:891
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Microcornea, Optic atrophy, Myopic astigmatism, Astigmatism, Protruding ear, Retinal de...	OMIM:152950
Pandas	Depression, Abnormal fear-induced behavior, Encopresis, Emotional lability, Obsessive-compulsive ...	ORPHA:66624
Morquio Syndrome C	Corneal opacity	OMIM:252300
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Febrile seizure (within the age range of 3 months to 6 years), Epileptic spasm, Myoclonus, Stereo...	ORPHA:289266
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Developmental Delay And Seizures With Or Without Movement Abnormalities	Myoclonic absence seizure, Bilateral tonic-clonic seizure, Ataxia, Bradykinesia, Generalized myoc...	OMIM:617836
Microphthalmia/Coloboma 10	Anophthalmia, Microphthalmia	OMIM:616428
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Ataxia, Myoclonic seizure, Cerebellar atrophy, Inability to walk, Epileptic spasm, Gait ataxia, S...	OMIM:619580
Seizures, Benign Familial Infantile, 3	Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral toni...	OMIM:607745
Juvenile Absence Epilepsy	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	ORPHA:1941
Winchester Syndrome	Corneal opacity	OMIM:277950
Encephalopathy Due To Prosaposin Deficiency	Myoclonus, Bilateral tonic-clonic seizure	ORPHA:139406
Epilepsy, Familial Temporal Lobe, 2	Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate...	OMIM:608096
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Status epilepticus without prominent motor symptoms, Complex febrile seizure, Seizure precipitate...	ORPHA:363549
Generalized Epilepsy With Febrile Seizures Plus, Type 1	Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ...	OMIM:604233
Epilepsy, Idiopathic Generalized, Susceptibility To, 10	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:613060
Leber Congenital Amaurosis 1	Hyperthreoninuria, Keratoconus, Cataract, Pigmentary retinopathy, Attenuation of retinal blood ve...	OMIM:204000
Developmental And Epileptic Encephalopathy 66	Broad-based gait, Myoclonic seizure, Seizure, Focal clonic seizure, Focal-onset seizure, Generali...	OMIM:618067
Stickler Syndrome, Type V	Cataract, Retinal detachment, Vitreoretinopathy, Sensorineural hearing impairment	OMIM:614284
Cerebral Creatine Deficiency Syndrome 2	Ataxia, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus, Aggres...	OMIM:612736
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Cerebral atrophy, Gait ataxia, Dysmetria, Bilateral tonic-clonic seizure, Spastic gait	OMIM:615031
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Seizure, Akinesia, Freezing of gait, Bilateral tonic-clonic seizure, Bradykinesia, Focal motor se...	OMIM:619911
Nanophthalmos	Microphthalmia	ORPHA:35612
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal fold, Cataract, Abnormality of retinal pigmentation, Retinal detachment, Chorioretinal dy...	OMIM:251270
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Increased cerebral lipofuscin, Seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonu...	OMIM:610539
Keratoendotheliitis Fugax Hereditaria	Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis, Epiretinal membrane	OMIM:148200
Sjogren-Larsson Syndrome	Macular degeneration, Retinal thinning, Astigmatism, Macular dots, Opacification of the corneal e...	OMIM:270200
Peho-Like Syndrome	Myoclonus, Status epilepticus, Bilateral tonic-clonic seizure, Cerebellar atrophy	OMIM:617507
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Focal impaired awareness seizure, Seizure, Febrile seizure (within the age range of 3 months to 6...	OMIM:620292
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso...	ORPHA:320401
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Bilateral tonic-clonic seizure, Ataxia	OMIM:618425
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Hearing impairment, Chorioretinal coloboma, Hematuria, Iris coloboma	OMIM:120433
Persistent Hyperplastic Primary Vitreous	Retinal fold, Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Persistent pu...	ORPHA:91495
Mitochondrial Complex I Deficiency, Nuclear Type 15	Cerebellar atrophy, Bilateral tonic-clonic seizure, Irritability	OMIM:618237
Oxoglutarate Dehydrogenase Deficiency	Falls, Gait ataxia, Dysmetria, Bilateral tonic-clonic seizure, Unsteady gait	OMIM:203740
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts	Atypical absence seizure, Bilateral tonic-clonic seizure	OMIM:600176
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	Self-injurious behavior, Convulsive status epilepticus, Inability to walk, Stereotypical hand wri...	OMIM:618760
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cataract, Abnormal auditory evoked potentials, Attenuation of retinal blood vessels, Sensorineura...	OMIM:619260
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4	Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se...	OMIM:611364
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity	ORPHA:1067
Nanophthalmos 4	Microphthalmia	OMIM:615972
Leber Congenital Amaurosis 8	Cataract, Keratoconus, Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapilla...	OMIM:613835
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Focal myoclonic seizure, Cerebral atrophy, Seizure, Difficulty walking, Bilateral tonic-clonic se...	ORPHA:464282
Intellectual Developmental Disorder, X-Linked 100	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:300923
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen...	OMIM:269400
Intellectual Developmental Disorder, X-Linked 30	Seizure, Generalized non-motor (absence) seizure, Short attention span, Aggressive behavior, Hype...	OMIM:300558
Intellectual Developmental Disorder With Seizures And Language Delay	Myoclonic absence seizure, Myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:619000
Systemic Primary Carnitine Deficiency	Confusion, Bilateral tonic-clonic seizure with focal onset	ORPHA:158
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Cerebellar atrophy, Cerebral atrophy, Seizure, Generalized non-motor (absence) seizure, Cerebella...	OMIM:618170
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12	Clonic seizure, Bilateral tonic-clonic seizure, Focal-onset seizure	OMIM:620461
Immunodeficiency 53	Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Bietti Crystalline Dystrophy	Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal thinning, Choriocapillaris a...	ORPHA:41751
Epilepsy, Juvenile Absence, Susceptibility To, 1	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se...	OMIM:607631
Galactosemia Ii	Galactosuria, Cataract	OMIM:230200
Developmental And Epileptic Encephalopathy 108	Convulsive status epilepticus, Myoclonic seizure, Focal impaired awareness seizure, Generalized n...	OMIM:620115
Developmental And Epileptic Encephalopathy 102	Generalized myoclonic seizure, Inability to walk, Tonic seizure, Focal emotional seizure with lau...	OMIM:619881
Familial Infantile Myoclonic Epilepsy	Ataxia, Cerebellar atrophy, Limb myoclonus, Seizure, Focal-onset seizure, Bilateral tonic-clonic ...	ORPHA:352582
Exudative Vitreoretinopathy 6	Exudative vitreoretinopathy, Cataract, Nuclear cataract, Retinal exudate, Posterior vitreous deta...	OMIM:616468
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Generalized Epilepsy With Febrile Seizures Plus, Type 4	Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized non-motor (absence) seizur...	OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10	Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se...	OMIM:617924
Adams-Oliver Syndrome 4	Umbilical hernia, Microphthalmia	OMIM:615297
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Myoclonic seizure, Lateral ventricle dilatation, Seizure, Inability to walk, Bruxism, Bilateral t...	OMIM:615716
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Congenital Rubella Syndrome	Cataract, Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the iris, Sensorineural hear...	ORPHA:290
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines	OMIM:301076
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Cerebral atrophy, Irritability, Bilateral tonic-clonic seizure, Inability to walk	ORPHA:457205
Autosomal Dominant Spastic Paraplegia Type 6	Urinary incontinence, Gait disturbance, Bilateral tonic-clonic seizure	ORPHA:100988
Glycosylphosphatidylinositol Biosynthesis Defect 17	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Overfriendliness, Dysplas...	OMIM:618010
Glycogen Storage Disease 0, Muscle	Exercise intolerance, Bilateral tonic-clonic seizure	OMIM:611556
Developmental And Epileptic Encephalopathy 103	Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic spasm, Tonic seizur...	OMIM:619913
Gómez-López-Hernández Syndrome	Low-set ears, Corneal opacity	ORPHA:1532
X-Linked Endothelial Corneal Dystrophy	Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity	ORPHA:293621
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Myoclonus, Attention deficit hyperactivity disorder, Motor tics, Nocturnal seizures, Bilateral to...	OMIM:619725
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy	OMIM:271310
Sialidosis Type 2	Nephropathy, Hearing impairment, Abnormal macular morphology, Splenomegaly, Corneal opacity	ORPHA:87876
Sarcosinemia	Emotional lability, Bilateral tonic-clonic seizure, Ataxia	ORPHA:3129
Lymphatic Malformation 11	Pedal edema, Lymphedema	OMIM:619401
Anterior Segment Dysgenesis 5	Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Hypoplasia of the fovea, Pos...	OMIM:604229
Developmental And Epileptic Encephalopathy 28	Ataxia, Seizure, Generalized non-motor (absence) seizure, Cerebral atrophy, Focal clonic seizure,...	OMIM:616211
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Cerebellar atrophy, Dysdiadochokinesis, Myoclonus, Dysmetria, Bilateral tonic-clonic seizure, Ata...	ORPHA:313772
Senior-Loken Syndrome	Chronic kidney disease, Cataract, Nephronophthisis, Stage 5 chronic kidney disease, Abnormality o...	ORPHA:3156
Hypoalphalipoproteinemia, Primary, 2	Cataract, Corneal arcus	OMIM:618463
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Epilepsy, Idiopathic Generalized, Susceptibility To, 11	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se...	OMIM:607628
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul...	ORPHA:2334
Congenital Hereditary Endothelial Dystrophy Type Ii	Abnormal Descemet membrane morphology, Irregular astigmatism, Sensorineural hearing impairment, C...	ORPHA:293603
Leukoencephalopathy With Vanishing White Matter 2	Cataract, Optic atrophy	OMIM:620312
Seizures, Benign Familial Neonatal, 1	Focal clonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 ...	OMIM:121200
Developmental And Epileptic Encephalopathy 61	Cerebral atrophy, Seizure, Focal clonic seizure, Loss of ambulation, Bilateral tonic-clonic seizu...	OMIM:617933
Sialidosis Type 1	Aminoaciduria, Cataract, Urinary excretion of sialylated oligosaccharides, Cherry red spot of the...	ORPHA:812
Corneal Dystrophy, Reis-Bucklers Type	Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity	OMIM:608470
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory...	OMIM:125250
New-Onset Refractory Status Epilepticus	Focal aware motor seizure, Focal autonomic seizure, Myoclonic seizure, Focal impaired awareness s...	ORPHA:363558
Seizures, Benign Familial Infantile, 2	Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age...	OMIM:605751
Autosomal Recessive Frontotemporal Pachygyria	Bilateral tonic-clonic seizure, Urinary incontinence, Seizure	ORPHA:329329
Cornea Plana 2, Autosomal Recessive	Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Myoclonus, Bilateral tonic-clonic seizure, Ataxia	OMIM:619065
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cataract, Hypoplasia of the antihelix, Hearing impairment, Chorioretinal coloboma, Abnormal antih...	ORPHA:2489
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Cerebral cortical atrophy, Focal impaired awareness seizure, Seizure, Infantile spasms, Tonic sei...	OMIM:619428
Congenital Primary Aphakia	Corneal perforation, Optic disc coloboma, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affect...	ORPHA:83461
Epilepsy, Familial Temporal Lobe, 6	Focal impaired awareness seizure, Status epilepticus, Febrile seizure (within the age range of 3 ...	OMIM:615697
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
Cataract 9, Multiple Types	Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma	OMIM:604219
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal fold, Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior c...	OMIM:221900
Severe Neonatal-Onset Encephalopathy With Microcephaly	Bilateral tonic-clonic seizure, Cerebral atrophy, Seizure	ORPHA:209370
Keratitis, Hereditary	Opacification of the corneal stroma, Keratitis	OMIM:148190
Developmental And Epileptic Encephalopathy 90	Cerebral atrophy, Focal-onset seizure, Bilateral tonic-clonic seizure, Abdominal pain, Focal impa...	OMIM:301058
Oculoauricular Syndrome	Low-set ears, Cataract, Microcornea, Posterior synechiae of the anterior chamber, Absent earlobe,...	OMIM:612109
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials, Astigmatism, Abnormality of visual evoked...	OMIM:617523
Developmental And Epileptic Encephalopathy 79	Migrating focal seizure, Cerebral cortical atrophy, Myoclonic seizure, Frontotemporal cerebral at...	OMIM:618559
Intellectual Developmental Disorder, Autosomal Recessive 44	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:615942
Fatty Acid Hydroxylase-Associated Neurodegeneration	Mental deterioration, Depression, Cerebellar atrophy, Falls, Cerebellar vermis atrophy, Loss of a...	ORPHA:329308
Chromosome 22Q13 Duplication Syndrome	Short attention span, Emotional lability, Polyphagia, Attention deficit hyperactivity disorder, B...	OMIM:615538
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Micropenis, Cataract, Retinal dystrophy	OMIM:610156
Fryns Microphthalmia Syndrome	Anophthalmia, Neural tube defect, Microphthalmia	OMIM:600776
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Depression, Focal hyperkinetic seizure, Attention deficit hyperactivity disorder, Cognitive impai...	ORPHA:98784
Spinocerebellar Ataxia With Epilepsy	Depression, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Gait ataxia, Dysmetria, P...	ORPHA:254881
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Bilateral ...	OMIM:619616
Mitochondrial Complex I Deficiency, Nuclear Type 13	Cerebral atrophy, Focal motor seizure, Bilateral tonic-clonic seizure, Irritability	OMIM:618235
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome	Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure	ORPHA:79137
Myopia 28, Autosomal Recessive	Cataract, Retinal detachment	OMIM:619781
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Generalized non-motor (absence) seizure, Generalized-onset seizure, Bila...	OMIM:615637
Multiple Sulfatase Deficiency	Cataract, Optic atrophy, Abnormality of peripheral nerve conduction, Abnormality of retinal pigme...	ORPHA:585
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Low-set, posteriorly rotated ears, Corneal opacity	ORPHA:2370
X-Linked Intellectual Disability, Hedera Type	Cerebellar atrophy, Inability to walk, Dysmetria, Gait disturbance, Bilateral tonic-clonic seizur...	ORPHA:93952
Nathalie Syndrome	Cataract, Hearing impairment	OMIM:255990
Alpers-Huttenlocher Syndrome	Myoclonus, Focal-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Choreoathetosis	ORPHA:726
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Cerebellar atrophy, Seizure, Difficulty walking, Gait ataxia, Dysmetria, Bilateral tonic-clonic s...	ORPHA:529665
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal guttata, Corneal stromal edema, Corneal opacity	OMIM:613267
Sulfite Oxidase Deficiency, Isolated	Cerebral atrophy, Bilateral tonic-clonic seizure, Ataxia, Choreoathetosis, Agitation	OMIM:272300
Developmental And Epileptic Encephalopathy 4	Generalized myoclonic seizure, Cerebral atrophy, Epileptic spasm, Generalized tonic seizure, Bila...	OMIM:612164
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Seizure, Generalized non-motor (absence) seizure, Stereotypical hand wringing, Bilateral tonic-cl...	OMIM:619854
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Shuffling gait, Broad-based gait, Abnormal fear-induced behavior, Seizure, Irritability, Aggressi...	ORPHA:3077
Intellectual Developmental Disorder, Autosomal Dominant 74	Diminished ability to concentrate, Motor tics, Typical absence seizure, Bilateral tonic-clonic se...	OMIM:620688
Intellectual Developmental Disorder, Autosomal Dominant 45	Myoclonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Recurrent hand flapping, A...	OMIM:617600
Pitt-Hopkins-Like Syndrome 1	Status epilepticus, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, A...	OMIM:610042
Diabetes Mellitus, Permanent Neonatal, 2	Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure	OMIM:618856
Leber Congenital Amaurosis	Cataract, Keratoconus, Hearing impairment, Abnormality of retinal pigmentation, Abnormal optic di...	ORPHA:65
Lissencephaly 9 With Complex Brainstem Malformation	Myoclonic seizure, Hypoplasia of the pons, Seizure, Hypoplasia of the brainstem, Infantile spasms...	OMIM:618325
Walker-Warburg Syndrome	Low-set ears, Cataract, Microcornea, Optic atrophy, Retinal dysplasia, Abnormal optic nerve morph...	ORPHA:899
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract, Renal tubular dysfunction	ORPHA:1380
Corneal Dystrophy, Posterior Polymorphous, 1	Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet...	OMIM:122000
Childhood Absence Epilepsy	Myoclonic absence seizure, Depression, Typical absence seizure, Limb myoclonus, Febrile seizure (...	ORPHA:64280
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me...	ORPHA:98973
Microphthalmia/Coloboma 9	Low-set ears, Microcornea, Macular coloboma, Retinal detachment, Ocular anterior segment dysgenes...	OMIM:615145
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant...	OMIM:610256
Exudative Vitreoretinopathy 1	Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre...	OMIM:133780
Specific Granule Deficiency 1	Increased neutrophil mitochondria, Increased neutrophil ribosomes, Recurrent otitis media, Absent...	OMIM:245480
Seizures, Benign Familial Infantile, 1	Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with ...	OMIM:601764
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity	OMIM:618660
Microphthalmia, Syndromic 16	Anophthalmia, Microphthalmia	OMIM:611038
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Retinal vein occl...	OMIM:177650
Morning Glory Disc Anomaly	Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Osteoporosis-Pseudoglioma Syndrome	Exudative vitreoretinopathy, Abnormal vitreous humor morphology, Retinal detachment, Exudative re...	ORPHA:2788
Houge-Janssens Syndrome 3	Self-injurious behavior, Generalized non-motor (absence) seizure, Hypoplasia of the brainstem, Fo...	OMIM:618354
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy, Buphthal...	OMIM:212550
Erythrokeratodermia Variabilis	Protruding ear, Cataract, Hearing impairment, Corneal opacity	ORPHA:317
Retinitis Pigmentosa 2	Cataract, Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degenerat...	OMIM:312600
Aniridia 2	Cataract, Optic atrophy, Aniridia, Lens subluxation, Iris coloboma	OMIM:617141
Exudative Vitreoretinopathy 4	Retinal exudate, Exudative vitreoretinopathy, Posterior vitreous detachment, Tractional retinal d...	OMIM:601813
Gyrate Atrophy Of Choroid And Retina	Aminoaciduria, Cataract, Hearing impairment, Abnormal macular morphology, Chorioretinal atrophy, ...	ORPHA:414
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Choreoathetosis, Bilateral tonic-clonic seizure, Episodic ataxia	ORPHA:53583
Pyruvate Dehydrogenase E1-Alpha Deficiency	Lateral ventricle dilatation, Cerebral atrophy, Seizure, Inability to walk, Infantile spasms, Age...	ORPHA:79243
Lissencephaly Due To Tuba1A Mutation	Hypoplasia of the brainstem, Infantile spasms, Agenesis of corpus callosum, Dysplastic corpus cal...	ORPHA:171680
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Cerebral atrophy, Arthralgia, Molar tooth sign on MRI, Agenesis of corpus callosum	ORPHA:166024
Abcd Syndrome	Abnormal auditory evoked potentials, Hearing impairment, Polycythemia, Hypopigmentation of the fu...	OMIM:600501
Epilepsy, Familial Adult Myoclonic, 2	Myoclonus, Cognitive impairment, Bilateral tonic-clonic seizure, Ataxia, Dementia	OMIM:607876
Joubert Syndrome 36	Molar tooth sign on MRI, Seizure	OMIM:618763
Hurler-Scheie Syndrome	Sensorineural hearing impairment, Abnormal nerve conduction velocity, Splenomegaly, Corneal opacity	ORPHA:93476
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Difficulty walking, Myalgia, Bilateral tonic-clonic seizure, Truncal ataxia, Waddling gait	ORPHA:369840
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea, Rod-cone dystrophy	OMIM:619082
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe...	OMIM:225200
Alpha-Mannosidosis, Adult Form	Cataract, Oligosacchariduria, Hepatosplenomegaly, Pancytopenia, Corneal opacity, Mixed hearing im...	ORPHA:309288
Leber Congenital Amaurosis 6	Cataract, Keratoconus, Attenuation of retinal blood vessels	OMIM:613826
Harel-Yoon Syndrome	Optic atrophy, Developmental cataract, Corneal opacity	OMIM:617183
Peters Anomaly	Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an...	ORPHA:708
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Frontal encephalocele, Microphthalmia	OMIM:218670
Mucolipidosis Type Iv	Retinopathy, Abnormality of retinal pigmentation, EEG abnormality, Corneal opacity	ORPHA:578
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Global brain atrophy, Focal myoclonic seizure, Seizure, Hypoplasia of the brainstem, Difficulty w...	ORPHA:481152
Autosomal Dominant Optic Atrophy Plus Syndrome	Optic atrophy, Sensorineural hearing impairment, Abnormal retinal nerve fiber layer morphology, A...	ORPHA:1215
Wolfram Syndrome, Mitochondrial Form	Optic atrophy, Hydroureter, Sideroblastic anemia, Sensorineural hearing impairment, Hydronephrosi...	OMIM:598500
Dentici-Novelli Neurodevelopmental Syndrome	Myoclonic seizure, Inability to walk, Epileptic spasm, Bilateral tonic-clonic seizure, Motor ster...	OMIM:619877
Xk Aprosencephaly Syndrome	Polyhydramnios, Microphthalmia	ORPHA:3469
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Retinal detachment, Corneal opacity	OMIM:613153
Cataracts, Spastic Paraparesis, And Speech Delay	Bilateral tonic-clonic seizure, Complex febrile seizure, Focal motor seizure, Generalized non-mot...	OMIM:619338
Brittle Cornea Syndrome 2	Keratoconus, Corneal perforation, Hearing impairment, Megalocornea, Keratoglobus, Sclerocornea, F...	OMIM:614170
Limbal Stem Cell Deficiency	Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea...	ORPHA:171673
Retinitis Pigmentosa 86	Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,...	OMIM:618613
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Optic atrophy, 3-Methylglutaconic aciduria, Corneal opacity, Optic nerve hypoplasia	ORPHA:496790
Mucolipidosis Type Iii	Corneal opacity	ORPHA:577
Cntnap2-Related Developmental And Epileptic Encephalopathy	Mental deterioration, Abnormal temper tantrums, Seizure, Cerebellar vermis atrophy, Focal-onset s...	ORPHA:163681
Syndromic Recessive X-Linked Ichthyosis	Unilateral renal agenesis, Acute leukemia, Renal insufficiency, Corneal opacity	ORPHA:281090
Migraine, Familial Hemiplegic, 2	Cerebellar atrophy, Episodic ataxia, Confusion, Gait ataxia, Dysmetria, Bilateral tonic-clonic se...	OMIM:602481
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Lethargy, Exercise intolerance, Gait imbalance, Bilateral tonic-clonic seizure	OMIM:618120
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Broad-based gait, Seizure, Gait imbalance, Bilateral tonic-clonic seizure with generalized onset,...	ORPHA:98795
Aniridia-Intellectual Disability Syndrome	Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia	ORPHA:1068
Bilateral Polymicrogyria	Mental deterioration, Aplasia/Hypoplasia of the brainstem, Cerebellar atrophy, Seizure, Pseudobul...	ORPHA:268940
Cataract 47	Cataract, Microcornea, Glycosuria	OMIM:612018
Leber Congenital Amaurosis 16	Cataract, Optic disc pallor	OMIM:614186
Autosomal Recessive Stickler Syndrome	Cataract, Vitreoretinopathy, Astigmatism, Sensorineural hearing impairment, Retinal detachment	ORPHA:250984
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Mercaptolactate-Cysteine Disulfiduria	Bilateral tonic-clonic seizure	OMIM:249650
Zellweger Syndrome	Cataract, Multicystic kidney dysplasia, Optic atrophy, Sensorineural hearing impairment, Hydronep...	ORPHA:912
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Depression, Seizure, Self-mutilation, Gait disturbance, Bilateral tonic-clonic seizure, Motor ste...	ORPHA:457240
Developmental And Epileptic Encephalopathy 106	Focal clonic seizure, Tonic seizure, Infantile spasms, Bilateral tonic-clonic seizure	OMIM:620028
Brain Small Vessel Disease 2	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:614483
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Mental deterioration, Seizure, Generalized non-motor (absence) seizure, Brain atrophy, Focal-onse...	ORPHA:395
D-2-Hydroxyglutaric Aciduria 1	Myoclonic seizure, Lateral ventricle dilatation, Seizure, Infantile spasms, Tonic seizure, Bilate...	OMIM:600721
Myoclonic Epilepsy Of Lafora 1	Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal sensory seizure wit...	OMIM:254780
Ravine Syndrome	Abnormal auditory evoked potentials	ORPHA:99852
Intermediate Uveitis	Cataract, Macular edema, Band keratopathy, Posterior synechiae of the anterior chamber, Epiretina...	ORPHA:279914
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Alpha-Mannosidosis	Cataract, Abnormal helix morphology, Hearing impairment, Splenomegaly, Corneal opacity, Chronic o...	ORPHA:61
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Frontal encephalocele, Microphthalmia	ORPHA:1528
3-Methylglutaconic Aciduria Type 4	Iris hypopigmentation, Cataract, Hearing impairment, 3-Methylglutaconic aciduria, Thrombocytopenia	ORPHA:67048
Combined Oxidative Phosphorylation Deficiency 27	Cerebral cortical atrophy, Mental deterioration, Global brain atrophy, Cerebellar atrophy, Cerebr...	OMIM:616672
Granular Corneal Dystrophy Type Ii	Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t...	ORPHA:98963
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment	OMIM:617519
Mmep Syndrome	Microphthalmia	ORPHA:3434
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Bilateral tonic-clonic seizure, Status epilepticus, Focal impaired awareness seizure, Seizure	OMIM:613970
Congenital Sialidosis Type 2	Low-set ears, Cataract, Optic atrophy, Hearing impairment, Cherry red spot of the macula, Hepatos...	ORPHA:93400
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic atrophy, Cataract, Glycosuria, Hearing impairment, Stage 5 chronic kidney disease, Sensorin...	OMIM:268315
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Brachyolmia Type 1, Hobaek Type	Opacification of the corneal stroma, Corneal opacity	OMIM:271530
Blindness-Scoliosis-Arachnodactyly Syndrome	Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia	ORPHA:171844
Ritscher-Schinzel Syndrome 4	Focal-onset seizure, Agenesis of corpus callosum, Aggressive behavior, Dysphagia, Bilateral tonic...	OMIM:619435
Lcat Deficiency	Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ...	ORPHA:650
Microphthalmia With Brain And Digit Anomalies	Cataract, Microcornea, Chorioretinal coloboma, Sensorineural hearing impairment, Sclerocornea, Ir...	ORPHA:139471
Aniridia 1	Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Retinal vascular tortuosity, Hypoplasia...	OMIM:106210
Leukodystrophy, Hypomyelinating, 5	Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct...	OMIM:610532
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of...	ORPHA:98974
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cataract, Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, S...	OMIM:612674
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Bilateral tonic-clonic seizure	OMIM:240900
Meckel Syndrome, Type 8	Occipital encephalocele, Encephalocele, Anophthalmia, Microphthalmia, Pericardial effusion	OMIM:613885
Gm2 Gangliosidosis, Ab Variant	Inappropriate behavior, Cerebral atrophy, Seizure, Neurodegeneration, Abnormal fear-induced behav...	ORPHA:309246
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly	Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure	OMIM:616281
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Bardet-Biedl Syndrome 9	Cataract, Attenuation of retinal blood vessels, Renal insufficiency, Astigmatism, Retinal degener...	OMIM:615986
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Abnormally prominent line of Schwalbe, Abnormal auditory evoked potentials, Senso...	OMIM:109120
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Febrile seizure (within the age range of 3 months to 6 years), Lethargy, Fatigue, Bilateral tonic...	ORPHA:42
Intellectual Developmental Disorder, X-Linked 98	Ataxia, Generalized non-motor (absence) seizure, Bulimia, Bruxism, Stereotypical body rocking, In...	OMIM:300912
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cataract, Optic disc pallor, Ectopic kidney, Cystic renal dysplasia	OMIM:613730
Lymphatic Malformation 8	Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion	OMIM:618773
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Anterior Segment Dysgenesis 6	Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova...	OMIM:617315
Multicentric Carpotarsal Osteolysis Syndrome	Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Corneal opacity	OMIM:166300
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Fuchs Heterochromic Iridocyclitis	Cataract, Chorioretinal scar, Corneal keratic precipitates, Epiretinal membrane, Retinal perforat...	ORPHA:263479
Joubert Syndrome 13	Molar tooth sign on MRI	OMIM:614173
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Self-injurious behavior, Cerebral cortical atrophy, Global brain atrophy, Seizure, Generalized no...	ORPHA:457351
Juvenile Sialidosis Type 2	Low-set ears, Cataract, Optic atrophy, Hearing impairment, Cherry red spot of the macula, Hepatos...	ORPHA:93399
Pulmonary Edema Of Mountaineers, Susceptibility To	Pulmonary edema, Edema	OMIM:178400
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Sensorineural hearing impairment, Hematuria...	OMIM:120330
Granular Corneal Dystrophy Type I	Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr...	ORPHA:98962
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Dementia, Bilateral tonic-clonic seizure	OMIM:540000
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Cataract, Hepatosplenomegaly	OMIM:273680
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Microphthalmia	ORPHA:324416
Scheie Syndrome	Abnormal nerve conduction velocity, Splenomegaly, Sensorineural hearing impairment, Mucopolysacch...	ORPHA:93474
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Low-set ears, Hearing impairment, Large earlobe, Leukopenia, Vesicoureteral reflux, Astigmatism, ...	OMIM:301056
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Cerebellar atrophy, Seizure, Infantile spasms, Irritability, Bilateral tonic-clonic seizure, Rest...	ORPHA:544503
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Epithelial Recurrent Erosion Dystrophy	Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi...	ORPHA:293381
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Ataxia, Urinary incontinence, Cerebellar atrophy, Seizure, Inability to walk, Epileptic spasm, Di...	OMIM:617193
Septopreoptic Holoprosencephaly	Abnormal midbrain morphology, Hypoplasia of the pons, Short attention span, Dysphagia, Impulsivity	ORPHA:280195
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Posterior Column Ataxia With Retinitis Pigmentosa	Cataract, Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicu...	OMIM:609033
Developmental And Epileptic Encephalopathy 95	Cerebral cortical atrophy, Cerebellar atrophy, Hypoplasia of the pons, Seizure, Cerebral atrophy,...	OMIM:618143
Corneal Endothelial Dystrophy	Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In...	OMIM:217700
Alfadhel Syndrome	Bilateral tonic-clonic seizure, Aggressive behavior, Seizure	OMIM:620655
Mohr-Tranebjaerg Syndrome	Optic atrophy, Prelingual sensorineural hearing impairment, Abnormality of somatosensory evoked p...	ORPHA:52368
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cerebral cortical atrophy, Lateral ventricle dilatation, Seizure, Difficulty walking, Gait imbala...	ORPHA:488627
Wolfram Syndrome 1	Cataract, Optic atrophy, Pigmentary retinopathy, Hydroureter, Hearing impairment, Sideroblastic a...	OMIM:222300
Macular Corneal Dystrophy	Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification...	ORPHA:98969
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
De Sanctis-Cacchione Syndrome	Mental deterioration, Global brain atrophy, Cerebral atrophy, Axonal degeneration, Scissor gait, ...	OMIM:278800
Stromme Syndrome	Low-set ears, Cataract, Microcornea, Accessory spleen, Peters anomaly, Retinal vascular tortuosit...	OMIM:243605
Microphthalmia, Isolated 8	True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:615113
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Stickler Syndrome Type 1	Cataract, Abnormal vitreous humor morphology, Retinal detachment, Sensorineural hearing impairment	ORPHA:90653
Joubert Syndrome 20	Inability to walk, Aggressive behavior, Self-mutilation, Molar tooth sign on MRI	OMIM:614970
Intellectual Developmental Disorder, Autosomal Dominant 42	Focal hemiclonic seizure, Dysphagia, Global brain atrophy, Generalized non-motor (absence) seizur...	OMIM:616973
Pierson Syndrome	Cataract, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, St...	OMIM:609049
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Cataract, Rod-cone dystrophy, Retinal coloboma	OMIM:601794
Bartsocas-Papas Syndrome 2	Axillary pterygium, Low-set ears, Popliteal pterygium, Corneal opacity, Antecubital pterygium, Ov...	OMIM:619339
Microphthalmia, Syndromic 12	Anophthalmia, Microphthalmia	OMIM:615524
Multiple Sulfatase Deficiency	Hearing impairment, Splenomegaly, Retinal degeneration, Mucopolysacchariduria, Corneal opacity	OMIM:272200
Joubert Syndrome 30	Molar tooth sign on MRI, Cerebellar atrophy, Seizure, Agenesis of corpus callosum	OMIM:617622
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, Rod-cone dystrophy, Retinal coloboma	ORPHA:363741
Oculocerebrocutaneous Syndrome	Orbital encephalocele, Anophthalmia, Microphthalmia	OMIM:164180
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen...	OMIM:601455
Isolated Aniridia	Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula	ORPHA:250923
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Head-banging, Impaired toileting ability, Bilateral tonic-clonic seizure	OMIM:619356
Lymphangiectasia, Pulmonary, Congenital	Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Mild postnatal growth re...	OMIM:265300
Oculocerebral Hypopigmentation Syndrome, Cross Type	Iris hypopigmentation, Cataract, Ureteral stenosis, Ocular albinism, Sensorineural hearing impair...	ORPHA:2719
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Amyloidosis, Finnish Type	Cataract, Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Orthostatic hypotens...	OMIM:105120
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Intellectual Developmental Disorder, Autosomal Dominant 34	Bruxism, Broad-based gait, Motor stereotypy, Bilateral tonic-clonic seizure	OMIM:616351
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Generalized myoclonic seizure, Global brain atrophy, Seizure, Infantile spasms, Generalized tonic...	ORPHA:480864
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation, Bilateral tonic-clonic seizure	OMIM:619278
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Cerebral atrophy, Seizure, Generalized non-motor (absence) seizure, Inappropriate laughter, Agene...	OMIM:615802
Jaberi-Elahi Syndrome	Broad-based gait, Cerebellar vermis atrophy, Inability to walk, Gait ataxia, Dysmetria, Substanti...	OMIM:617988
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
3-Methylglutaconic Aciduria, Type Viia	Myoclonic seizure, Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure,...	OMIM:619835
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism	Myoclonic seizure, Brain atrophy, Tonic seizure, Bilateral tonic-clonic seizure, Focal impaired a...	OMIM:619983
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Keratitis, Recurrent otitis media, Corneal opacity, Conjunctivitis, Posteriorly rotated ears, Mic...	OMIM:602562
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Polyhydramnios, Microphthalmia	ORPHA:2547
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo...	OMIM:601596
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Corneal crystals, Retinal pigment epithelial mottling, Stage 5 chronic kidney disease, Retinopath...	OMIM:219900
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Unilateral renal agenesis, Aniridia, Developmental glaucoma, Corneal opacity	ORPHA:1064
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Aggressive behavior, Bilateral tonic-clonic seizure	OMIM:616083
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Cataract, Hypoplasia of penis, Hypospadias, Aplasia/Hypoplasia of the lens	ORPHA:1381
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Cystinosis	Nephropathy, Aminoaciduria, Renal insufficiency, Retinopathy, Renal tubular dysfunction, Proteinu...	ORPHA:213
Choreoacanthocytosis	Mental deterioration, Lateral ventricle dilatation, Emotional lability, Hair-pulling, Loss of amb...	ORPHA:2388
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Adult Krabbe Disease	Abnormal midbrain morphology, Mental deterioration, Abnormal medulla oblongata morphology, Broad-...	ORPHA:206448
Ophthalmomandibulomelic Dysplasia	Corneal opacity, Megalocornea	ORPHA:2741
Sandhoff Disease, Infantile Form	Cerebral cortical atrophy, Myoclonic seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure	ORPHA:309155
Japanese Encephalitis	Abnormal midbrain morphology, Abnormal substantia nigra morphology, Myalgia, Myoclonus, Rigors, C...	ORPHA:79139
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Focal impaired awareness seizure, Bilateral tonic-clonic seizure	OMIM:617468
Congenital Toxoplasmosis	Ascites, Microphthalmia	ORPHA:858
Cochleosaccular Degeneration-Cataract Syndrome	Cataract, Progressive sensorineural hearing impairment, Cochlear degeneration	ORPHA:3233
Cofs Syndrome	Microphthalmia	ORPHA:1466
D-Glyceric Aciduria	Cerebral cortical atrophy, Seizure, Focal clonic seizure, Myoclonus, Tongue thrusting, Bilateral ...	OMIM:220120
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Abnormality of macular pigmentation, Optic disc coloboma, Ectopia pupillae, Recurrent otitis medi...	OMIM:608940
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Microcornea, Hearing impairment, Protruding ear, Keratoconjunctivitis sicca, Sclerocorn...	ORPHA:1806
Joubert Syndrome 9	Cataract, Stage 5 chronic kidney disease, Astigmatism, Retinal dystrophy	OMIM:612285
Developmental And Epileptic Encephalopathy 18	Generalized non-motor (absence) seizure, Generalized-onset seizure, Focal-onset seizure, Tonic se...	OMIM:615476
Developmental And Epileptic Encephalopathy 100	Myoclonic seizure, Typical absence seizure, Seizure, Febrile seizure (within the age range of 3 m...	OMIM:619777
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Anterior Segment Dysgenesis 1	Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif...	OMIM:107250
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ectopia pupillae, Retinal thinning, Abnormality of retinal pigmentation, Cone/cone-rod dystrophy,...	ORPHA:85167
Nance-Horan Syndrome	Protruding ear, Cataract, Microcornea, Retinal detachment	ORPHA:627
Canavan Disease	Epileptic spasm, Brain atrophy, Bilateral tonic-clonic seizure	OMIM:271900
Short Syndrome	Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Sensorineural hearing impairment...	ORPHA:3163
17Q12 Microduplication Syndrome	Polyhydramnios, Microphthalmia	ORPHA:261272
Scheie Syndrome	Retinal degeneration, Corneal opacity	OMIM:607016
Developmental And Epileptic Encephalopathy 49	Myoclonic seizure, Myoclonus, Dysplastic corpus callosum, Tonic seizure, Hyperactivity, Bilateral...	OMIM:617281
Cockayne Syndrome Type 1	Cataract, Optic atrophy, Pigmentary retinopathy, Hearing impairment, Renal insufficiency, Abnorma...	ORPHA:90321
Melas	Cerebral cortical atrophy, Exercise intolerance, Memory impairment, Depression, Seizure, Myoclonu...	ORPHA:550
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Enhanced S-Cone Syndrome	Cataract, Pigmentary retinopathy, Macular edema, Vitreoretinopathy, Retinoschisis	OMIM:268100
Alport Syndrome 2, Autosomal Recessive	Nephritis, Cataract, Anterior lenticonus, Hearing impairment, Stage 5 chronic kidney disease, Ren...	OMIM:203780
Schimke Immuno-Osseous Dysplasia	Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Abnormal prop...	ORPHA:1830
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Low-set ears, Cataract, Optic atrophy, Optic nerve hypoplasia, Peters anomaly, Atresia of the ext...	OMIM:236670
Combined Oxidative Phosphorylation Defect Type 29	Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Axonal degeneration, Bilater...	ORPHA:478029
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Peroxisome Biogenesis Disorder 10B	Low-set ears, Cataract, Nephrocalcinosis, Neurogenic bladder, Posteriorly rotated ears	OMIM:617370
Dk1-Cdg	Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Seizure	ORPHA:91131
Chromosome 16Q12 Duplication Syndrome	Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m...	OMIM:619649
Brachyolmia Type 1, Toledo Type	Increased urinary disaccharide excretion, Opacification of the corneal stroma	OMIM:271630
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay	Absent internal auditory canal, Hypoplasia of the cochlea, Profound sensorineural hearing impairm...	OMIM:620469
Early Infantile Epileptic Encephalopathy	Self-injurious behavior, Cerebellar atrophy, Seizure, Generalized non-motor (absence) seizure, Fe...	ORPHA:1934
Cutis Laxa, Autosomal Dominant 3	Low-set ears, Unilateral renal agenesis, Protruding ear, Developmental cataract, Corneal opacity	OMIM:616603
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	Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the ...	OMIM:614207
Amish Lethal Microcephaly	Irritability, Bilateral tonic-clonic seizure, Agenesis of corpus callosum	ORPHA:99742
8Q21.11 Microdeletion Syndrome	Iris hypopigmentation, Cataract, Low-set ears, Hearing impairment, Corneal opacity, Sclerocornea,...	ORPHA:284160
Mietens Syndrome	Sclerocornea, Cataract, Microcornea, Corneal opacity	ORPHA:2557
Rutherfurd Syndrome	Opacification of the corneal stroma, Corneal dystrophy	OMIM:180900
Chromosome Xp11.3 Deletion Syndrome	Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Attenuation of r...	OMIM:300578
Developmental And Epileptic Encephalopathy 8	Tonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure	OMIM:300607
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Urinary incontinence, Myoclonic seizure, Brain atrophy, Bilateral tonic-clonic seizure	OMIM:620070
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Proteinuria, Mucopolysacchariduria, Abnormal T cell morphology, Nephrotic syndrome, Opacification...	OMIM:215250
Fish-Eye Disease	Splenomegaly, Corneal opacity	ORPHA:79292
Lissencephaly 8	Occipital encephalocele, Microphthalmia	OMIM:617255
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Cerebral cortical atrophy, Cerebellar atrophy, Febrile seizure (within the age range of 3 months ...	ORPHA:496641
Slc35A2-Cdg	Abnormal midbrain morphology, Cerebellar atrophy, Lateral ventricle dilatation, Cerebral atrophy,...	ORPHA:356961
Atopic Keratoconjunctivitis	Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju...	ORPHA:163934
Hartsfield Syndrome	Encephalocele, Microphthalmia	ORPHA:2117
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Polydipsia, Focal myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Athetosis, Focal im...	ORPHA:369929
X-Linked Intellectual Disability Due To Gria3 Mutations	Seizure, Myoclonus, Self-mutilation, Aggressive behavior, Bilateral tonic-clonic seizure, Status ...	ORPHA:364028
Familial Dysautonomia	Optic atrophy, Abnormal pupil morphology, Renal insufficiency, Heterochromia iridis, Orthostatic ...	ORPHA:1764
Developmental And Epileptic Encephalopathy 111	Convulsive status epilepticus, Hypoplasia of the pons, Infantile spasms, Bilateral tonic-clonic s...	OMIM:620504
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Infantile spasms, Hair-pulling, Irritability, Motor stereotypy, Hyperactivity, Bilateral tonic-cl...	ORPHA:447997
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Vogt-Koyanagi-Harada Disease	Cataract, Retinal detachment, Sensorineural hearing impairment	ORPHA:3437
Porphyria Due To Ala Dehydratase Deficiency	Depression, Abnormal fear-induced behavior, Difficulty walking, Confusion, Delirium, Abdominal pa...	ORPHA:100924
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Myoclonic seizure, Cerebellar atrophy, Cerebral atrophy, Seizure, Generalized non-motor (absence)...	OMIM:615398
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity	ORPHA:1867
Cockayne Syndrome A	Cataract, Optic atrophy, Abnormal auditory evoked potentials, Pigmentary retinopathy, Retinal pig...	OMIM:216400
Cat-Eye Syndrome	Microphthalmia	ORPHA:195
3P25.3 Microdeletion Syndrome	Generalized non-motor (absence) seizure, Attention deficit hyperactivity disorder, Bilateral toni...	ORPHA:435638
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity	OMIM:618961
Dyschondrosteosis-Nephritis Syndrome	Nephropathy, Proteinuria, Hematuria, Corneal opacity	ORPHA:1765
Gm1-Gangliosidosis, Type Iii	Opacification of the corneal stroma, Splenomegaly, Cherry red spot of the macula	OMIM:230650
Galactosialidosis	Hearing impairment, Cherry red spot of the macula, Hepatosplenomegaly, Conjunctival telangiectasi...	OMIM:256540
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Cataract, Abnormal helix morphology, Pigmentary retinopathy, Opacification of the ...	OMIM:214110
Hurler Syndrome	Hearing impairment, Recurrent otitis media, Heparan sulfate excretion in urine, Hepatosplenomegal...	OMIM:607014
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ...	OMIM:165550
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure, Inability to walk	ORPHA:488613
Norrie Disease	Cataract, Abnormal helix morphology, Optic atrophy, Ectopia lentis, Abnormal chorioretinal morpho...	ORPHA:649
Chronic Bilirubin Encephalopathy	Conjunctival icterus, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hemo...	ORPHA:529808
Acute Bilirubin Encephalopathy	Conjunctival icterus, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hemo...	ORPHA:529799
Pierpont Syndrome	Microphthalmia	OMIM:602342
Otodental Syndrome	Cataract, Microcornea, Progressive sensorineural hearing impairment, High-frequency sensorineural...	ORPHA:2791
Joubert Syndrome 25	Molar tooth sign on MRI, Ataxia	OMIM:616781
Orofaciodigital Syndrome Xv	Molar tooth sign on MRI, Agenesis of corpus callosum	OMIM:617127
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Cockayne Syndrome B	Optic atrophy, Microcornea, Abnormal auditory evoked potentials, Pigmentary retinopathy, Hypoplas...	OMIM:133540
Oculo-Palato-Cerebral Syndrome	Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system, Thickened heli...	ORPHA:2714
Joubert Syndrome 4	Elongated superior cerebellar peduncle, Thickened superior cerebellar peduncle, Molar tooth sign ...	OMIM:609583
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Corneal crystals, Chorioretinal atrophy, Retinal degeneration	OMIM:210370
Alternating Hemiplegia Of Childhood	Seizure, Oral-pharyngeal dysphagia, Anorexia, Emotional lability, Impulsivity, Aggressive behavio...	ORPHA:2131
Molybdenum Cofactor Deficiency, Type C	Generalized-onset seizure, Hypoplasia of the pons, Generalized myoclonic seizure, Bilateral tonic...	OMIM:615501
Idiopathic Panuveitis	Cataract, Choroidal neovascularization, Posterior synechiae of the anterior chamber, Epiretinal m...	ORPHA:280921
Meckel Syndrome, Type 5	Occipital encephalocele, Anencephaly, Microphthalmia	OMIM:611561
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Generalized non-motor (absence) seizure, Epileptic spasm, Irritability, Bilateral tonic-clonic se...	ORPHA:79351
Warburg Micro Syndrome 1	Microphthalmia	OMIM:600118
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Abnormal optic nerve morphology, Leukocytosis, Splenomegaly, Sensorineural hearin...	ORPHA:3226
Mucolipidosis Type Iii Alpha/Beta	Conductive hearing impairment, Oligosacchariduria, Keratan sulfate excretion in urine, Recurrent ...	ORPHA:423461
Mucopolysaccharidosis Type 3	Cataract, Optic atrophy, Pigmentary retinopathy, Conductive hearing impairment, Hearing impairmen...	ORPHA:581
Sandhoff Disease	Myoclonic seizure, Progressive psychomotor deterioration, Episodic abdominal pain, Bilateral toni...	OMIM:268800
Gm1 Gangliosidosis	Low-set ears, Optic atrophy, Cherry red spot of the macula, Retinopathy of prematurity, Hepatospl...	ORPHA:354
Gelatinous Drop-Like Corneal Dystrophy	Conjunctival amyloidosis, Corneal neovascularization, Central opacification of the cornea, Subepi...	ORPHA:98957
Wagro Syndrome	Low-set ears, Cataract, Aniridia, Proteinuria, Corneal opacity	OMIM:612469
Mucopolysaccharidosis Type 1	Optic atrophy, Hearing impairment, Splenomegaly, Retinopathy, Sensorineural hearing impairment, M...	ORPHA:579
Al-Gazali Syndrome	Hydronephrosis, Sclerocornea, Corneal opacity	OMIM:609465
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Bilateral tonic-clonic seizure	OMIM:618832
Hydrolethalus	Polyhydramnios, Anencephaly, Anophthalmia, Microphthalmia	ORPHA:2189
Intellectual Developmental Disorder, Autosomal Dominant 54	Ataxia, Cerebellar atrophy, Seizure, Inability to walk, Bruxism, Irritability, Aggressive behavio...	OMIM:617799
Sympathetic Ophthalmia	Cataract, Macular edema, Anterior chamber cells, Posterior synechiae of the anterior chamber, Hea...	ORPHA:79098
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Low-set ears, Cataract, Peters anomaly, Retinal detachment, Remnants of the hyaloid vascular syst...	OMIM:614643
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma	ORPHA:1643
Farber Disease	Macular degeneration, Cherry red spot of the macula, Hepatosplenomegaly, Thrombocytopenia, Cornea...	ORPHA:333
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Lethargy, Sudden cardiac death, Exercise-induced myalgia, Bilateral tonic-clonic seizure	OMIM:201475
Lowry-Maclean Syndrome	Low-set ears, Megalocornea, Corneal opacity, Hypospadias, Developmental glaucoma	ORPHA:2409
Glass Syndrome	Broad-based gait, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Frequen...	OMIM:612313
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Oligohydramnios, Microphthalmia	OMIM:619053
Congenital Insensitivity To Pain With Severe Intellectual Disability	Self-mutilation, Bilateral tonic-clonic seizure	ORPHA:453510
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
3Mc Syndrome 3	Hearing impairment, Horseshoe kidney, Auricular pit, Penoscrotal hypospadias, Corneal opacity, Mi...	OMIM:248340
Warburg Micro Syndrome 3	Inability to walk, Cerebral cortical atrophy, Myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:614222
Chromosome 8Q21.11 Deletion Syndrome	Low-set ears, Cataract, Pigmentary retinopathy, Sensorineural hearing impairment, Protruding ear,...	OMIM:614230
Distal Deletion 6P	Low-set ears, Hearing impairment, Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon...	ORPHA:96125
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Self-injurious behavior, Myoclonic seizure, Hypoplasia of the pons, Frequent temper tantrums, Age...	OMIM:619512
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Microphthalmia, Syndromic 5	Cataract, Microcornea, Micropenis, Retinal dystrophy, Optic nerve hypoplasia	OMIM:610125
Nasopalpebral Lipoma-Coloboma Syndrome	Low-set ears, Cataract, Cupped ear, Abnormality of cartilage of external ear, Conjunctival hypere...	ORPHA:2399
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Rodrigues Blindness	Sclerocornea, Microcornea, Protruding ear	OMIM:268320
Oculopalatocerebral Syndrome	Leukocoria, Remnants of the hyaloid vascular system	OMIM:257910
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Multiple Benign Circumferential Skin Creases On Limbs	Umbilical hernia, Edema, Microphthalmia	ORPHA:2505
Incontinentia Pigmenti	Cataract, Keratitis, Retinal vascular proliferation, Eosinophilia, Retinal detachment, Corneal op...	ORPHA:464
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia	ORPHA:48431
Combined Oxidative Phosphorylation Deficiency 58	Epilepsia partialis continua, Cerebellar atrophy, Difficulty walking, Myoclonus, Gait ataxia, Bil...	OMIM:620451
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Cataract 10, Multiple Types	Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract	OMIM:600881
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	Keratitis, Postural hypotension with compensatory tachycardia, Corneal scarring, Recurrent cornea...	OMIM:256800
Late-Infantile/Juvenile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ...	ORPHA:206443
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Frontonasal Dysplasia 1	Cranium bifidum occultum, Anterior basal encephalocele, Microphthalmia	OMIM:136760
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Unilateral renal agenesis, Hypospadias, Astigmatism, Hydronephrosis, Renal cyst, Protruding ear, ...	ORPHA:464311
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma	ORPHA:461
Chromosome 6Pter-P24 Deletion Syndrome	Low-set ears, Pigmentary retinopathy, Peters anomaly, Axenfeld anomaly, Sensorineural hearing imp...	OMIM:612582
Pelvis-Shoulder Dysplasia	Opacification of the corneal stroma, Iris coloboma, Optic disc coloboma	OMIM:169550
Joubert Syndrome 3	Elongated superior cerebellar peduncle, Lateral ventricle dilatation, Molar tooth sign on MRI, At...	OMIM:608629
Leukodystrophy, Hypomyelinating, 13	Delayed brainstem auditory evoked response conduction time, Optic atrophy	OMIM:616881
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Oligohydramnios, Encephalocele, Microphthalmia	ORPHA:228390
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Oculocerebrocutaneous Syndrome	Abnormal pinna morphology, Iris coloboma, Hearing impairment, Corneal opacity	ORPHA:1647
Cerebrotendinous Xanthomatosis	Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality...	ORPHA:909
Joubert Syndrome 31	Truncal ataxia, Molar tooth sign on MRI	OMIM:617761
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypospadias, Hearing impairment, Sclerocornea, Hypoplasia of penis, Iris coloboma	ORPHA:77298
Fucosidosis	Mucopolysacchariduria, Hearing impairment, Corneal opacity	ORPHA:349
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Infantile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, Ch...	ORPHA:206436
Cerebrooculofacioskeletal Syndrome 1	Dehydration, Microphthalmia	OMIM:214150
Hurler-Scheie Syndrome	Heparan sulfate excretion in urine, Splenomegaly, Dermatan sulfate excretion in urine, Corneal op...	OMIM:607015
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Hyperekplexia 3	Myoclonus, Bilateral tonic-clonic seizure	OMIM:614618
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:618316
Joubert Syndrome 10	Dysmetria, Polyphagia, Frequent temper tantrums, Molar tooth sign on MRI	OMIM:300804
Meckel Syndrome, Type 2	Meningocele, Anencephaly, Encephalocele, Microphthalmia	OMIM:603194
Intellectual Developmental Disorder, Autosomal Dominant 53	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:617798
Sanjad-Sakati Syndrome	Low-set, posteriorly rotated ears, Astigmatism, Corneal opacity, Hypoplasia of penis, Abnormal pi...	ORPHA:2323
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia	ORPHA:93267
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Oculomaxillofacial Dysostosis	Corneal opacity	ORPHA:1794
Fabry Disease	Nephropathy, Cataract, Optic atrophy, Hearing impairment, Renal insufficiency, Sensorineural hear...	ORPHA:324
Neuromuscular Oculoauditory Syndrome	Unsteady gait, Infantile spasms, Bilateral tonic-clonic seizure, Agenesis of corpus callosum	OMIM:618733
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis	OMIM:619281
Mucopolysaccharidosis, Type Ivb	Hearing impairment, Chondroitin sulfate excretion in urine, Keratan sulfate excretion in urine, C...	OMIM:253010
Joubert Syndrome 27	Gait ataxia, Molar tooth sign on MRI, Ataxia	OMIM:617120
Focal Dermal Hypoplasia	Low-set ears, Multicystic kidney dysplasia, Ectopia lentis, Hearing impairment, Chorioretinal col...	ORPHA:2092
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Mosaic Trisomy 8	Hearing impairment, Vesicoureteral reflux, Abnormal antihelix morphology, Hydronephrosis, Protrud...	ORPHA:96061
Pelger-Huet Anomaly	Bilateral tonic-clonic seizure, Seizure	OMIM:169400
Molybdenum Cofactor Deficiency, Type B	Cerebral atrophy, Seizure, Irritability, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure...	OMIM:252160
Schimke Immunoosseous Dysplasia	Focal segmental glomerulosclerosis, Lymphopenia, Pancytopenia, Stage 5 chronic kidney disease, Re...	OMIM:242900
Amoebiasis Due To Free-Living Amoebae	Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Seizure, Confusion, Irritabi...	ORPHA:68
Meckel Syndrome 13	Molar tooth sign on MRI, Ataxia	OMIM:617562
Leiomyomatosis, Diffuse, With Alport Syndrome	Nephropathy, Cataract, Anterior lenticonus, Hearing impairment, High-frequency sensorineural hear...	OMIM:308940
Olmsted Syndrome 1	Opacification of the corneal stroma, Corneal opacity	OMIM:614594
Monosomy 18P	Lymphedema, Microphthalmia	ORPHA:1598
Adams-Oliver Syndrome 2	Oligohydramnios, Microphthalmia	OMIM:614219
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Thrombocytopenia, Absent brainstem auditory responses, Hypochromic microcytic anemia, Vestibular ...	ORPHA:3240
Joubert Syndrome 33	Molar tooth sign on MRI, Ataxia	OMIM:617767
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
3Q29 Microduplication Syndrome	Low-set ears, Cataract, Hearing impairment, Aniridia, Sclerocornea, Iris coloboma	ORPHA:251038
Pseudo-Torch Syndrome 1	Low-set ears, Cataract, Renal insufficiency, Splenomegaly, Thrombocytopenia, Opacification of the...	OMIM:251290
Oculogastrointestinal Neurodevelopmental Syndrome	Unilateral microphthalmos, Bilateral microphthalmos	OMIM:619318
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Retinal dystrophy, Hearing impairment, Abnormal earlobe morphology, Ab...	ORPHA:2556
Biotinidase Deficiency	Seizure, Infantile spasms, Lethargy, Bilateral tonic-clonic seizure, Ataxia, Focal motor seizure,...	ORPHA:79241
Trisomy 13	Aplasia/Hypoplasia of the iris, Hydrops fetalis, Anophthalmia, Microphthalmia	ORPHA:3378
Mitochondrial Dna-Associated Leigh Syndrome	Seizure, Infantile spasms, Abnormality of Krebs cycle metabolism, Gait ataxia, Bilateral tonic-cl...	ORPHA:255210
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Cataract, Pigmentary retinopathy, Peters anomaly, Hearing impairment, Chordee, Scler...	OMIM:309801
Bartsocas-Papas Syndrome	Popliteal pterygium, Corneal opacity	ORPHA:1234
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Bilateral tonic-clonic seizur...	OMIM:620224
Axenfeld-Rieger Syndrome, Type 2	Microcornea, Hearing impairment, Opacification of the corneal stroma, Hypospadias, Anterior chamb...	OMIM:601499
Hurler Syndrome	Abnormal nerve conduction velocity, Hearing impairment, Splenomegaly, Retinopathy, Mucopolysaccha...	ORPHA:93473
Charcot-Marie-Tooth Disease Type 1F	Decreased nerve conduction velocity, Sensorineural hearing impairment, Absent brainstem auditory ...	ORPHA:101085
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lens coloboma, Umbilical hernia, Microphthalmia	OMIM:618914
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Mucoepithelial Dysplasia, Hereditary	Cataract, Hearing impairment, Corneal neovascularization, Hematuria, Keratoconjunctivitis, Eosino...	OMIM:158310
Joubert Syndrome 7	Ataxia, Brainstem dysplasia, Molar tooth sign on MRI, Hypoplasia of the brainstem	OMIM:611560
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microcornea, Facial paralysis, Hypopigmentation of the fundus, Hypoplasia of the iris, Ectopia pu...	OMIM:175780
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Oligohydramnios, Increased nuchal translucency, Microphthalmia	OMIM:618494
Schimmelpenning-Feuerstein-Mims Syndrome	Horseshoe kidney, Hyperphosphaturia, Corneal opacity	OMIM:163200
Joubert Syndrome 6	Hypoplasia of the brainstem, Elongated superior cerebellar peduncle, Thickened superior cerebella...	OMIM:610688
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
1Q44 Microdeletion Syndrome	Bilateral tonic-clonic seizure, Agenesis of corpus callosum	ORPHA:238769
Ichthyosis, Congenital, Autosomal Recessive 11	Corneal opacity	OMIM:602400
Al-Gazali-Bakalinova Syndrome	Brain atrophy, Molar tooth sign on MRI, Agenesis of corpus callosum	OMIM:607131
Joubert Syndrome 28	Molar tooth sign on MRI, Ataxia	OMIM:617121
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Global brain atrophy, Cerebellar atrophy, Seizure, Cerebral atrophy, Myoclonus, Bilateral tonic-c...	OMIM:618426
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Global brain atrophy, Cerebellar atrophy, Generalized-onset seizure, Inability to walk, Bilateral...	OMIM:620066
Mucopolysaccharidosis Type 7	Mucopolysacchariduria, Splenomegaly, Corneal opacity	ORPHA:584
Lujo Hemorrhagic Fever	Mental deterioration, Seizure, Chest pain, Confusion, Myalgia, Rigors, Bilateral tonic-clonic sei...	ORPHA:319213
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Mucopolysaccharidosis, Type Vii	Hearing impairment, Recurrent otitis media, Heparan sulfate excretion in urine, Urinary glycosami...	OMIM:253220
Coach Syndrome 2	Molar tooth sign on MRI, Agenesis of corpus callosum	OMIM:619111
Gracile Bone Dysplasia	Ascites, Aniridia, Microphthalmia	OMIM:602361
Immunodeficiency 32B	Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocytopenia, Neutrophil...	OMIM:226990
Joubert Syndrome With Renal Defect	Seizure, Agenesis of corpus callosum, Gait disturbance, Molar tooth sign on MRI, Ataxia	ORPHA:220497
Alpha-Mannosidosis, Infantile Form	Cataract, Oligosacchariduria, Hepatosplenomegaly, Pancytopenia, Astigmatism, Otitis media, Sensor...	ORPHA:309282
Cystinosis, Adult Nonnephropathic	Corneal crystals, Abnormal retinal morphology	OMIM:219750
Dyrk1A-Related Intellectual Disability Syndrome	Unilateral renal agenesis, Hypospadias, Astigmatism, Hydronephrosis, Renal cyst, Protruding ear, ...	ORPHA:464306
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Mosaic Trisomy 9	Low-set ears, Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Corneal opacity, Asplenia, ...	ORPHA:99776
Cockayne Syndrome Type 3	Lentiglobus, Optic disc pallor, Corneal ulceration, Macrotia, Retinal dystrophy, Cataract, Microc...	ORPHA:90324
Knobloch Syndrome	Cataract, Macular degeneration, Ectopia lentis, Vitreoretinopathy, Bifid ureter, Vesicoureteral r...	ORPHA:1571
Mogs-Cdg	Optic atrophy, Hepatosplenomegaly, Sensorineural hearing impairment, Absent brainstem auditory re...	ORPHA:79330
Carpenter Syndrome 1	Low-set ears, Optic atrophy, Microcornea, Hydroureter, Conductive hearing impairment, Polysplenia...	OMIM:201000
Mucolipidosis Iii Alpha/Beta	Retinopathy, Retinal degeneration, Mucopolysacchariduria, Opacification of the corneal stroma, Hy...	OMIM:252600
Hydrolethalus Syndrome 2	Molar tooth sign on MRI, Agenesis of corpus callosum	OMIM:614120
Ophthalmomandibulomelic Dysplasia	Opacification of the corneal stroma, Megalocornea	OMIM:164900
Meckel Syndrome, Type 4	Meningocele, Anencephaly, Encephalocele, Microphthalmia	OMIM:611134
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Hyperphosphatasia-Intellectual Disability Syndrome	Seizure, Myoclonus, Gait disturbance, Bilateral tonic-clonic seizure, Ataxia	ORPHA:247262
Mucopolysaccharidosis Type 4	Mucopolysacchariduria, Hearing impairment, Corneal opacity	ORPHA:582
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma, Atresia of the external auditory canal	OMIM:601356
Mitochondrial Trifunctional Protein Deficiency 2	Bilateral tonic-clonic seizure, Myalgia, Seizure	OMIM:620300
Fryns Syndrome	Multicystic kidney dysplasia, Low-set, posteriorly rotated ears, Vesicoureteral reflux, Hydroneph...	ORPHA:2059
Arthrogryposis, Distal, Type 2A	Abnormal auditory evoked potentials, Hearing impairment	OMIM:193700
Peroxisome Biogenesis Disorder 1A (Zellweger)	Aminoaciduria, Cataract, Low-set ears, Abnormal helix morphology, Pigmentary retinopathy, Hearing...	OMIM:214100
Mucopolysaccharidosis Type 2	Optic atrophy, Otosclerosis, Conductive hearing impairment, Decreased nerve conduction velocity, ...	ORPHA:580
Dermochondrocorneal Dystrophy	Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities	OMIM:221800
Schwannomatosis, Vestibular	Cataract, Posterior subcapsular cataract, Hearing impairment, Bilateral vestibular schwannoma, Ep...	OMIM:101000
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Myoclonic seizure, Head-banging, Hypoplasia of the pons, Seizure, Generalized non-motor (absence)...	OMIM:620455
Lathosterolosis	Cataract, Microcornea, Hearing impairment, Horseshoe kidney, Abnormal platelet morphology, Thromb...	ORPHA:46059
Full Nf2-Related Schwannomatosis	Posterior subcapsular cataract, Bilateral vestibular schwannoma, Abnormal optic nerve morphology,...	ORPHA:637
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Hep...	OMIM:609136
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Cerebral cortical atrophy, Broad-based gait, Seizure, Hippocampal atrophy, Gait ataxia, Dysmetria...	OMIM:614756
Joubert Syndrome 18	Molar tooth sign on MRI, Agenesis of corpus callosum	OMIM:614815
Adult-Onset Autosomal Dominant Leukodystrophy	Abnormal auditory evoked potentials, Urinary retention, Abnormality of somatosensory evoked poten...	ORPHA:99027
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmune hydrops fetalis, Micropht...	OMIM:153400
Coach Syndrome 3	Molar tooth sign on MRI, Ataxia	OMIM:619113
Hermansky-Pudlak Syndrome 10	Cerebral atrophy, Focal myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:617050
Peroxisome Biogenesis Disorder 5A (Zellweger)	Low-set ears, Hypospadias, Cataract, Abnormal helix morphology, Optic atrophy, Hearing impairment...	OMIM:614866
Spondylo-Ocular Syndrome	Aplasia/Hypoplasia of the lens, Microphthalmia	ORPHA:85194
Cocaine Intoxication	Seizure, Chest pain, Focal-onset seizure, Flank pain, Abdominal pain, Bilateral tonic-clonic seiz...	ORPHA:90068
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Microcornea, Ectopia pupillae, Sclerocornea, Hypospadias	OMIM:615877
Joubert Syndrome 15	Molar tooth sign on MRI, Ataxia	OMIM:614464
Meckel Syndrome	Accessory spleen, Cataract, Microcornea, Multicystic kidney dysplasia, Optic atrophy, Low-set, po...	ORPHA:564
Atelis Syndrome 2	Low-set ears, Protruding ear, Vitreous hemorrhage, Developmental cataract, Remnants of the hyaloi...	OMIM:620185
De Barsy Syndrome	Low-set ears, Cataract, Abnormal fundus fluorescein angiography, Large earlobe, Corneal opacity, ...	ORPHA:2962
Chime Syndrome	Acute leukemia, Hearing impairment, Retinal coloboma, Hydronephrosis, Corneal opacity	ORPHA:3474
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Hydronephrosis, Sclerocornea, Pelvic kidney, Limbal dermoid	OMIM:613001
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:301091
Joubert Syndrome 32	Molar tooth sign on MRI, Ataxia	OMIM:617757
Weaver Syndrome	Lateral ventricle dilatation, Seizure, Generalized non-motor (absence) seizure, Polyphagia, Bilat...	OMIM:277590
Proboscis Lateralis	Unilateral renal agenesis, Microcornea, Cataract, Duplication of renal pelvis, Optic disc colobom...	ORPHA:141099
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microphthalmia	OMIM:614833
Joubert Syndrome With Ocular Defect	Seizure, Agenesis of corpus callosum, Gait disturbance, Molar tooth sign on MRI, Ataxia	ORPHA:220493
Oculocerebrorenal Syndrome Of Lowe	Lentiglobus, Hematuria, Proximal renal tubular acidosis, Chorioretinal dysplasia, Chronic otitis ...	ORPHA:534
Mucopolysaccharidosis Type 2, Severe Form	Optic atrophy, Otosclerosis, Conductive hearing impairment, Heparan sulfate excretion in urine, H...	ORPHA:217085
Histiocytoid Cardiomyopathy	Optic atrophy, Megalocornea, Renal cyst, Corneal opacity, Congenital aphakia	ORPHA:137675
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic nerve hypoplasia, Occipital encephalocele, Microphthalmia	ORPHA:370959
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Bilateral tonic-clonic seizure	ORPHA:79350
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Wilson Disease	Anemia, Thrombocytopenia, Splenomegaly, Kayser-Fleischer ring	ORPHA:905
Bresek Syndrome	Optic nerve hypoplasia, Microphthalmia	ORPHA:85284
Joubert Syndrome 1	Hypoplasia of the brainstem, Hemifacial spasm, Brainstem dysplasia, Self-mutilation, Aggressive b...	OMIM:213300
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Ethmoidal encephalocele, Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Microphthalmia, Syndromic 3	Cataract, Optic nerve aplasia, Sensorineural hearing impairment, Sclerocornea, Micropenis, Hyposp...	OMIM:206900
Mucopolysaccharidosis Type 2, Attenuated Form	Optic atrophy, Otosclerosis, Conductive hearing impairment, Heparan sulfate excretion in urine, H...	ORPHA:217093
Neurooculocardiogenitourinary Syndrome	Microphthalmia	OMIM:618652
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Myoclonic seizure, Athetosis, Bilateral tonic-clonic seizure	OMIM:615474
Kinsship Syndrome	Generalized non-motor (absence) seizure, Bruxism, Myoclonus, Focal-onset seizure, Bilateral tonic...	OMIM:619297
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Tangier Disease	Opacification of the corneal stroma, Facial diplegia, Splenomegaly	OMIM:205400
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Self-injurious behavior, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (withi...	ORPHA:466943
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Joubert Syndrome 35	Elongated superior cerebellar peduncle, Molar tooth sign on MRI, Ataxia	OMIM:618161
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia	ORPHA:3191
Gorlin-Chaudhry-Moss Syndrome	Sclerocornea, Conductive hearing impairment, Astigmatism	ORPHA:2095
Cataract 5, Multiple Types	Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Hyperferritinemia With Or Without Cataract	Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract	OMIM:600886
Premature Aging Syndrome, Penttinen Type	Sensorineural hearing impairment, Corneal stromal edema, Hypermyelinated retinal nerve fibers, Co...	OMIM:601812
Mucopolysaccharidosis Type 6	Hearing impairment, Splenomegaly, Mucopolysacchariduria, Opacification of the corneal stroma, Chr...	ORPHA:583
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia	OMIM:610756
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Self-injurious behavior, Typical absence seizure, Aggressive behavior, Attention deficit hyperact...	ORPHA:466950
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Low-set ears, Renal cyst, Keratoconjunctivitis sicca, Corneal opacity, Buphthalmos, Hypospadias, ...	ORPHA:495875
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Optic atrophy, Megalocornea, Hypoplasia of the retina, Retinal degeneration, Enlarged f...	OMIM:253280
Heart And Brain Malformation Syndrome	Polyhydramnios, Microphthalmia	OMIM:616920
Mosaic Variegated Aneuploidy Syndrome	Cataract, Multicystic kidney dysplasia, Hearing impairment, Low-set, posteriorly rotated ears, Co...	ORPHA:1052
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Ataxia, Cerebral cortical atrophy, Broad-based gait, Typical absence seizure, Seizure, Febrile se...	ORPHA:268261
Nivelon-Nivelon-Mabille Syndrome	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:600092
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Microphthalmia	OMIM:615249
Joubert Syndrome 37	Microphthalmia	OMIM:619185
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Neurocardiofaciodigital Syndrome	Cataract, Hearing impairment, Vesicoureteral reflux, Sclerocornea, Optic disc pallor	OMIM:619869
Galloway-Mowat Syndrome 1	Focal segmental glomerulosclerosis, Cataract, Low-set ears, Optic atrophy, Hypoplasia of the iris...	OMIM:251300
Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	ORPHA:2717
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Bilateral tonic-clonic seizure, Motor stereotypy, Cerebral atrophy, Seizure	OMIM:301040
Mosaic Variegated Aneuploidy Syndrome 1	Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure, Agenesis of corpus callosum	OMIM:257300
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Frontofacionasal Dysplasia	Encephalocele, Microphthalmia	ORPHA:1791
Gomez-Lopez-Hernandez Syndrome	Low-set ears, Opacification of the corneal stroma, Posteriorly rotated ears	OMIM:601853
Joubert Syndrome 40	Molar tooth sign on MRI	OMIM:619582
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Self-injurious behavior, Broad-based gait, Myoclonic seizure, Fixated interests, Generalized non-...	OMIM:620330
Tbck-Related Intellectual Disability Syndrome	Sensorineural hearing impairment, Neurogenic bladder, EEG with generalized epileptiform discharge...	ORPHA:488632
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Lateral ventricle dilatation, Seizure, Inability to walk, Colpocephaly, Corpus callosum atrophy, ...	OMIM:620371
Trisomy 10P	Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Multiple renal cys...	ORPHA:171929
Combined Oxidative Phosphorylation Deficiency 3	Bilateral tonic-clonic seizure, Cognitive impairment, Seizure, Ataxia	OMIM:610505
Spondylodysplastic Ehlers-Danlos Syndrome	Low-set ears, Posterior subcapsular cataract, Hearing impairment, Optic disc coloboma, Megalocorn...	ORPHA:536471
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos, Umbilical hernia	ORPHA:369891
Temtamy Syndrome	Microphthalmia	OMIM:218340
Thrombocytopenia-Absent Radius Syndrome	Cataract, Horseshoe kidney, Hepatosplenomegaly, Vesicoureteral reflux, Leukocytosis, Eosinophilia...	OMIM:274000
Tyrosinemia Type 2	Corneal opacity	ORPHA:28378
Joubert Syndrome 2	Seizure, Hypoplasia of the brainstem, Brainstem dysplasia, Elongated superior cerebellar peduncle...	OMIM:608091
Relapsing Fever	Acute kidney injury, Leukopenia, Leukocytosis, Hematuria, Thrombocytopenia, Neutrophilia, Anemia	ORPHA:91547
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Cataract, Multicystic kidney dysplasia, Retinal coloboma, Bifid ureter, Transient neutropenia, As...	ORPHA:500095
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia	OMIM:301108
W Syndrome	Bilateral tonic-clonic seizure	ORPHA:2804
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Spondyloepiphyseal Dysplasia, Maroteaux Type	Mucopolysacchariduria, Opacification of the corneal stroma	OMIM:184095
Bone Marrow Failure Syndrome 5	Bilateral tonic-clonic seizure	OMIM:618165
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma	ORPHA:3453
Congenital Disorder Of Deglycosylation 1	Low-set ears, Chondroitin sulfate excretion in urine, Keratan sulfate excretion in urine, Heparan...	OMIM:615273
Sandestig-Stefanova Syndrome	Microphthalmia	OMIM:618804
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Moebius Syndrome	Microphthalmia	OMIM:157900
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Bilateral tonic-clonic seizure	ORPHA:423479
Combined Oxidative Phosphorylation Deficiency 15	Seizure, Cognitive impairment, Ataxia, Progressive neurologic deterioration, Unsteady gait, Bilat...	OMIM:614947
Gaucher Disease	Splenic infarction, Hearing impairment, Abnormal macular morphology, Cherry red spot of the macul...	ORPHA:355
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Global brain atrophy, Cerebellar atrophy, Generalized non-motor (absence) seizure, Generalized to...	ORPHA:369837
Rere-Related Neurodevelopmental Syndrome	Microphthalmia	ORPHA:494344
Baraitser-Winter Syndrome 1	Microphthalmia	OMIM:243310
Phace Syndrome	Retinal vascular malformation, Cataract, Heterochromia iridis, Sclerocornea, Lens coloboma, Iris ...	ORPHA:42775
Solitary Median Maxillary Central Incisor	Anophthalmia, Microphthalmia	OMIM:147250
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Cerebral cortical atrophy, Myoclonic seizure, Generalized-onset seizure, Epileptic spasm, Bilater...	OMIM:620024
Tetraamelia-Multiple Malformations Syndrome	Polyhydramnios, Septo-optic dysplasia, Microphthalmia	ORPHA:3301
Meckel Syndrome 14	Oligohydramnios, Occipital encephalocele, Increased nuchal translucency, Microphthalmia	OMIM:619879
Joubert Syndrome 14	Meningocele, Encephalocele, Microphthalmia	OMIM:614424
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Holoprosencephaly 14	Aqueductal stenosis, Partial agenesis of the corpus callosum, Cerebellar atrophy, Bilateral tonic...	OMIM:619895
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Adams-Oliver Syndrome	Ascites, Encephalocele, Microphthalmia	ORPHA:974
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Meckel Syndrome, Type 10	Molar tooth sign on MRI, Seizure	OMIM:614175
Joubert Syndrome 16	Molar tooth sign on MRI	OMIM:614465
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Acute Generalized Exanthematous Pustulosis	Renal insufficiency, Leukocytosis, Eosinophilia, Neutropenia, Neutrophilia, Conjunctivitis	ORPHA:293173
Tangier Disease	Hepatosplenomegaly, Facial diplegia, Thrombocytopenia, Corneal opacity, Anemia	ORPHA:31150
Tubulointerstitial Nephritis And Uveitis Syndrome	Posterior synechiae of the anterior chamber, Retinal vasculitis, Tubulointerstitial nephritis, Am...	ORPHA:91500
Duplication Of The Pituitary Gland	Abnormal midbrain morphology, Abnormal hypothalamus morphology, Self-mutilation, Agenesis of corp...	ORPHA:314621
Chondrodysplasia Punctata 2, X-Linked Dominant	Polyhydramnios, Edema, Microphthalmia	OMIM:302960
Mitochondrial Complex I Deficiency, Nuclear Type 1	Exercise intolerance, Cerebellar atrophy, Lethargy, Bilateral tonic-clonic seizure, Ataxia	OMIM:252010
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Peters Plus Syndrome	Hypospadias, Multicystic kidney dysplasia, Cataract, Microcornea, Peters anomaly, Microtia, secon...	ORPHA:709
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 years)	ORPHA:3044
D-Bifunctional Protein Deficiency	Bilateral tonic-clonic seizure, Corpus callosum atrophy, Seizure, Cerebellar atrophy	OMIM:261515
Mend Syndrome	Low-set ears, Cataract, Abnormal auditory evoked potentials	ORPHA:401973
Vacterl With Hydrocephalus	Polyhydramnios, Anophthalmia, Spina bifida, Microphthalmia	ORPHA:3412
Deafness, Unilateral, With Delayed Endolymphatic Hydrops	Edema	OMIM:612097
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Myoclonic seizure, Generalized myoclonic seizure, Seizure, Generalized-onset seizure, Bilateral t...	OMIM:614231
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Small earlobe, Hearing impairment, Corneal opacity	ORPHA:364577
Neurofibromatosis Type 1	Cataract, Chronic myelogenous leukemia, Hearing impairment, Chorioretinal coloboma, Abnormality o...	ORPHA:636
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Broad-based gait, Myoclonic seizure, Cerebral atrophy, Seizure, Violent behavior, Gait ataxia, Bi...	OMIM:280000
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Frontonasal Dysplasia 2	Oligohydramnios, Encephalocele, Microphthalmia	OMIM:613451
Ablepharon Macrostomia Syndrome	Atresia of the external auditory canal, Hearing impairment, Corneal opacity, Hypoplasia of penis,...	ORPHA:920
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microphthalmia	OMIM:617914
Mucopolysaccharidosis, Type Vi	Splenomegaly, Hearing impairment, Dermatan sulfate excretion in urine, Corneal opacity	OMIM:253200
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Bilateral tonic-clonic seizure	ORPHA:436159
Xeroderma Pigmentosum	Aminoaciduria, Cataract, Optic atrophy, Keratitis, Hearing impairment, Pterygium, Sensorineural h...	ORPHA:910
Joubert Syndrome With Oculorenal Defect	Molar tooth sign on MRI, Seizure, Ataxia	ORPHA:2318
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Microphthalmia	OMIM:609053
Coach Syndrome 1	Molar tooth sign on MRI, Seizure, Ataxia	OMIM:216360
Wilson Disease	Aminoaciduria, Sunflower cataract, Glycosuria, Kayser-Fleischer ring, Decreased nerve conduction ...	OMIM:277900
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Broad-based gait, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the a...	ORPHA:513456
Galloway-Mowat Syndrome 3	Oligohydramnios, Edema, Microphthalmia	OMIM:617729
Moebius Syndrome	Facial palsy, Hearing impairment, Corneal opacity	ORPHA:570
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	Anophthalmia, Microphthalmia	OMIM:206920
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Garg-Mishra Progeroid Syndrome	Microphthalmia	OMIM:620601
Trichothiodystrophy 3, Photosensitive	Microphthalmia	OMIM:616395
Matthew-Wood Syndrome	Anophthalmia, Microphthalmia	ORPHA:2470
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Frontorhiny	Basal encephalocele, Cranium bifidum occultum, Encephalocele, Microphthalmia	ORPHA:391474
Congenital Fibrinogen Deficiency	Microphthalmia	ORPHA:335
Warburg Micro Syndrome 4	Microphthalmia	OMIM:615663
Hallermann-Streiff Syndrome	Choreoathetosis, Bilateral tonic-clonic seizure, Hyperactivity	OMIM:234100
Hyper-Igd Syndrome	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Elevated urine mevalonic acid level, Renal angiom...	OMIM:260920
Infantile Nephropathic Cystinosis	Aminoaciduria, Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals, Glycosuria, ...	ORPHA:411629
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Sensorineural hearing ...	ORPHA:2072
Wolf-Hirschhorn Syndrome	Hypospadias, Optic atrophy, Hearing impairment, Megalocornea, Low-set, posteriorly rotated ears, ...	ORPHA:280
Kindler Epidermolysis Bullosa	Neoplasm of the urethra, Phimosis, Urethral stricture, Corneal opacity, Anemia, Conjunctivitis	ORPHA:2908
Mucopolysaccharidosis, Type Iva	Keratan sulfate excretion in urine, Opacification of the corneal stroma, Hearing impairment, Chon...	OMIM:253000
Microcephaly-Micromelia Syndrome	Oligohydramnios, Microphthalmia	OMIM:251230
Encephalocraniocutaneous Lipomatosis	Iris coloboma, Retinopathy, Corneal opacity	ORPHA:2396
Mucolipidosis Iii Gamma	Mucopolysacchariduria, Opacification of the corneal stroma	OMIM:252605
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Refsum Disease	Microphthalmia	ORPHA:773
Marden-Walker Syndrome	Microphthalmia	OMIM:248700
Neuroocular Syndrome 1	Low-set ears, Cataract, Microcornea, Peters anomaly, Cupped ear, Anterior creases of earlobe, Hyp...	OMIM:619539
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Mosaic Trisomy 1	Low-set ears, Renal cortical cysts, Penile hypospadias, Renal cyst, Micropenis, Opacification of ...	ORPHA:1692
Manitoba Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	OMIM:248450
Smith-Lemli-Opitz Syndrome	Cataract, Multicystic kidney dysplasia, Iris coloboma, Optic atrophy, Low-set, posteriorly rotate...	ORPHA:818
Pseudoleprechaunism Syndrome, Patterson Type	Bilateral tonic-clonic seizure, Atonic seizure	ORPHA:2976
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Williams Syndrome	Megalocornea, Sensorineural hearing impairment, Posterior embryotoxon, Flat cornea, Chronic otiti...	ORPHA:904
X Small Rings	Bilateral tonic-clonic seizure, Seizure	ORPHA:96201
Joubert Syndrome 17	Molar tooth sign on MRI, Ataxia	OMIM:614615
Oculoectodermal Syndrome	Microcornea, Astigmatism, Chorioretinal atrophy, Opacification of the corneal stroma, Limbal derm...	OMIM:600268
Chromosome 13Q33-Q34 Deletion Syndrome	Anencephaly, Encephalocele, Microphthalmia	OMIM:619148
Orofaciodigital Syndrome Type 6	Seizure, Gait disturbance, Hypothalamic hamartoma, Molar tooth sign on MRI, Ataxia	ORPHA:2754
Orofaciodigital Syndrome Xvi	Inability to walk, Molar tooth sign on MRI, Ataxia	OMIM:617563
Webb-Dattani Syndrome	Bilateral tonic-clonic seizure	OMIM:615926
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Corneal opacity	OMIM:620519
Fraser Syndrome 1	Low-set ears, Renal hypoplasia, Cupped ear, Atresia of the external auditory canal, Conductive he...	OMIM:219000
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Holoprosencephaly-Postaxial Polydactyly Syndrome	Polyhydramnios, Umbilical hernia, Encephalocele, Microphthalmia	ORPHA:2166
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Anemia, Corneal opacity	ORPHA:79396
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
Microphthalmia, Syndromic 2	Hypospadias, Microcornea, Cupped ear, Asymmetry of the ears, Sensorineural hearing impairment, Po...	OMIM:300166
Autosomal Dominant Cutis Laxa	Low-set ears, Unilateral renal agenesis, Pyelonephritis, Protruding ear, Bladder diverticulum, De...	ORPHA:90348
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Encephalocele, Microphthalmia	OMIM:613150
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Bilateral tonic-clonic seizure	ORPHA:79124
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia	OMIM:241410
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	OMIM:616449
Fanconi Anemia, Complementation Group F	Polyhydramnios, Microphthalmia	OMIM:603467
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia	OMIM:618571
Larsen Syndrome	Conductive hearing impairment, Hearing impairment, Corneal opacity	OMIM:150250
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Chylothorax, Lymphedema, Pleural effusion, Anophthalmia, Microphthalmia, Edema	ORPHA:2526
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Difficulty walking, Cerebral cortical atrophy, Gait ataxia, Bilateral tonic-clonic seizure	ORPHA:457359
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Multicystic kidney dysplasia, Optic nerve dysplasia, Hydronephrosis, Micropenis, Retinal dysplasi...	OMIM:615287
Isolated Permanent Neonatal Diabetes Mellitus	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia	ORPHA:99885
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Martsolf Syndrome 1	Microphthalmia	OMIM:212720
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Trisomy 18	Oligohydramnios, Anencephaly, Spina bifida, Microphthalmia	ORPHA:3380
Micro Syndrome	Microphthalmia	ORPHA:2510
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Microphthalmia	OMIM:253800
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Multifocal seizures, Motor stereotypy,...	OMIM:301044
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Inability to walk, Genera...	ORPHA:459070
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia	ORPHA:1352
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hydroureter, Keratitis, Macrotia, Astigmatism, Hydronephrosis, Aganglionic megacolon, Corneal opa...	ORPHA:2273
Apolipoprotein A-I Deficiency	Opacification of the corneal stroma	ORPHA:425
Ogden Syndrome	Cerebral atrophy, Generalized-onset seizure, Irritability, Dysphagia, Bilateral tonic-clonic seiz...	OMIM:300855
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Arthralgia, Myoclonic spasms, Sudden cardiac death, Bilateral tonic-clonic seizure	ORPHA:73224
Wiedemann-Rautenstrauch Syndrome	Low-set ears, Cataract, Optic atrophy, Pigmentary retinopathy, Optic disc hypoplasia, Recurrent o...	ORPHA:3455
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia	ORPHA:2728
Mycophenolate Mofetil Embryopathy	Hydrops fetalis, Microphthalmia	ORPHA:268249
Curry-Jones Syndrome	Occipital meningocele, Lipomyelomeningocele, Microphthalmia	OMIM:601707
Warburg Micro Syndrome 2	Microphthalmia	OMIM:614225
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Opacification of the corneal stroma	OMIM:313400
Osteogenesis Imperfecta	Hearing impairment, Progressive hearing impairment, Nephrolithiasis, Hypercalciuria, Thrombocytop...	ORPHA:666
Pseudotrisomy 13 Syndrome	Encephalocele, Microphthalmia	OMIM:264480
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Abnormal midbrain morphology, Self-injurious behavior, Depression, Polydipsia, Seizure, Emotional...	ORPHA:293987
Pelvis-Shoulder Dysplasia	Hydranencephaly, Spina bifida, Bilateral microphthalmos	ORPHA:2839
Duane-Radial Ray Syndrome	Spina bifida occulta, Optic disc hypoplasia, Microphthalmia	OMIM:607323
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Joubert Syndrome 8	Molar tooth sign on MRI, Ataxia	OMIM:612291
Oliver Syndrome	Bilateral tonic-clonic seizure	ORPHA:2920
Cat Eye Syndrome	Umbilical hernia, Microphthalmia	OMIM:115470
Kapur-Toriello Syndrome	Microphthalmia	OMIM:244300
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Low-set ears, Sensorineural hearing impairment, Posteriorly rotated ears, Corneal opacity	OMIM:608670
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Molar tooth sign on MRI, Seizure, Hypoplasia of the brainstem	OMIM:619306
Hereditary Acrokeratotic Poikiloderma	Abnormality of the urethra, Hearing impairment, Keratoconjunctivitis, Abnormal preputium morpholo...	ORPHA:2907
Trichothiodystrophy 1, Photosensitive	Microphthalmia	OMIM:601675
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Minimal change glomerulonephritis, Leukocytosis, Autoimmune hemolytic anemia, Splen...	OMIM:620565
Microphthalmia, Lenz Type	Microphthalmia	ORPHA:568
Linear Skin Defects With Multiple Congenital Anomalies 3	Sclerocornea	OMIM:300952
Gaucher Disease, Type Iiic	Pancytopenia, Opacification of the corneal stroma, Splenomegaly	OMIM:231005
Monosomy 9Q22.3	Umbilical hernia, Microphthalmia	ORPHA:77301
Mucolipidosis Ii Alpha/Beta	Megalocornea, Recurrent otitis media, Splenomegaly, Mucopolysacchariduria, Opacification of the c...	OMIM:252500
Bartsocas-Papas Syndrome 1	Axillary pterygium, Low-set ears, Popliteal pterygium, Cupped ear, Pterygium, Micropenis, Opacifi...	OMIM:263650
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Colpocephaly, Elongated superior cerebellar peduncle, Lateral ventricle dilatation, Molar tooth s...	ORPHA:397715
Cohen Syndrome	Microphthalmia	ORPHA:193
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Fraser Syndrome 2	Oligohydramnios, Microphthalmia	OMIM:617666
Van Den Ende-Gupta Syndrome	Protruding ear, Sclerocornea, Overfolded helix, Posteriorly rotated ears, Small earlobe	OMIM:600920
3Q29 Microdeletion Syndrome	Microphthalmia	ORPHA:65286
Holoprosencephaly	Spinal dysraphism, Branchial anomaly, Encephalocele, Anophthalmia, Microphthalmia	ORPHA:2162
Microphthalmia, Syndromic 6	Low-set ears, Renal hypoplasia, Microcornea, Hearing impairment, Protruding ear, Uplifted earlobe...	OMIM:607932
Cousin Syndrome	Hydranencephaly, Microphthalmia	OMIM:260660
Hartsfield Syndrome	Bilateral tonic-clonic seizure, Agenesis of corpus callosum	OMIM:615465
Neu-Laxova Syndrome 1	Generalized edema, Hydranencephaly, Small placenta, Short umbilical cord, Spina bifida, Microphth...	OMIM:256520
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	ORPHA:464738
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Roberts-Sc Phocomelia Syndrome	Low-set ears, Cataract, Accessory spleen, Long penis, Absent earlobe, Horseshoe kidney, Posterior...	OMIM:268300
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Tinnitus, Opacification of the corneal stroma, Hearing impairment	ORPHA:79280
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Microphthalmia	OMIM:616300
Phace Association	Optic nerve hypoplasia, Microphthalmia	OMIM:606519
Fanconi Anemia, Complementation Group N	Microphthalmia	OMIM:610832
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Cerebellar-Facial-Dental Syndrome	Abnormal midbrain morphology, Hypoplasia of the pons, Hypoplasia of the brainstem	ORPHA:444072
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Broad-based gait, Seizure, Bilateral tonic-clonic seizure on awakening, Recurrent singultus, Epil...	ORPHA:438213
Pituitary Adenoma 4, Acth-Secreting	Abnormal fear-induced behavior, Emotional lability	OMIM:219090
2Q31.1 Microdeletion Syndrome	Microphthalmia	ORPHA:251014
Basal Cell Nevus Syndrome 1	Spina bifida, Microphthalmia	OMIM:109400
Fryns Syndrome	Low-set ears, Abnormal helix morphology, Polysplenia, Hydronephrosis, Renal cyst, Aganglionic meg...	OMIM:229850
Stuve-Wiedemann Syndrome 1	Low-set ears, Opacification of the corneal stroma, Abnormal autonomic nervous system physiology	OMIM:601559
Limb Body Wall Complex	Lens subluxation, Iris coloboma, Corneal opacity	ORPHA:2369
1Q21.1 Microdeletion Syndrome	Microphthalmia	ORPHA:250989
Meckel Syndrome, Type 1	Occipital encephalocele, Large placenta, Oligohydramnios, Microphthalmia, Anencephaly	OMIM:249000
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Self-injurious behavior, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic...	OMIM:612474
Fanconi Anemia	Umbilical hernia, Oligohydramnios, Aplasia/Hypoplasia of the iris, Spina bifida, Microphthalmia	ORPHA:84
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Self-injurious behavior, Abnormal fear-induced behavior, Seizure, Emotional lability, Aggressive ...	ORPHA:353281
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Microphthalmia	ORPHA:2250
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
Yunis-Varon Syndrome	Low-set ears, Cataract, Hearing impairment, Renal artery stenosis, Sclerocornea, Micropenis, Reno...	ORPHA:3472
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Spina bifida, Microphthalmia	ORPHA:508498
Hutchinson-Gilford Progeria Syndrome	Conductive hearing impairment, High-frequency sensorineural hearing impairment, Prominent ear hel...	ORPHA:740
Orofaciodigital Syndrome Vi	Hypothalamic hamartoma, Molar tooth sign on MRI, Agenesis of corpus callosum	OMIM:277170
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Digeorge Syndrome	Low-set ears, Unilateral renal agenesis, Recurrent otitis media, Renal insufficiency, Splenomegal...	OMIM:188400
Joubert Syndrome 5	Aggressive behavior, Thickened superior cerebellar peduncle, Molar tooth sign on MRI, Ataxia	OMIM:610188
Dubowitz Syndrome	Hypoplasia of the iris, Microphthalmia	OMIM:223370
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Treacher-Collins Syndrome	Branchial fistula, Encephalocele, Microphthalmia	ORPHA:861
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Arima Syndrome	Polydipsia, Hypoplasia of the brainstem, Brainstem dysplasia, Molar tooth sign on MRI, Ataxia	OMIM:243910
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia	OMIM:308300
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos	OMIM:618874
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Jacobsen Syndrome	Macular hypoplasia, Microphthalmia	OMIM:147791
22Q11.2 Deletion Syndrome	Umbilical hernia, Spina bifida, Microphthalmia, Polyhydramnios, Meningocele	ORPHA:567
Fanconi Anemia, Complementation Group C	Microphthalmia	OMIM:227645
Pallister-Hall Syndrome	Microphthalmia	OMIM:146510
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Self-injurious behavior, Abnormal fear-induced behavior, Seizure, Abnormal lateral ventricle morp...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Self-injurious behavior, Abnormal fear-induced behavior, Seizure, Abnormal lateral ventricle morp...	ORPHA:353277
Trichothiodystrophy	Bilateral microphthalmos, Umbilical hernia	ORPHA:33364
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Polyhydramnios, Branchial cyst, Microphthalmia	OMIM:620186
Holoprosencephaly 7	Occipital meningocele, Bilateral microphthalmos, Microphthalmia	OMIM:610828
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Microphthalmia	ORPHA:959
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Aicardi Syndrome	Spina bifida, Microphthalmia	OMIM:304050
Roberts Syndrome	Polyhydramnios, Microphthalmia	ORPHA:3103
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Microgastria-Limb Reduction Defect Syndrome	Anophthalmia, Microphthalmia	ORPHA:2538
Acromelic Frontonasal Dysostosis	Low-set ears, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Charge Syndrome	Polyhydramnios, Umbilical hernia, Anophthalmia, Microphthalmia	ORPHA:138
Microphthalmia, Syndromic 9	Anophthalmia, Bilateral microphthalmos	OMIM:601186
Sotos Syndrome	Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Cerebral atrophy...	ORPHA:821
Chromosome 13Q14 Deletion Syndrome	Umbilical hernia, Microphthalmia	OMIM:613884
Hallermann-Streiff Syndrome	Microphthalmia	ORPHA:2108
Myhre Syndrome	Pericardial effusion, Microphthalmia	OMIM:139210
Orofaciodigital Syndrome Type 2	Bilateral tonic-clonic seizure	ORPHA:2751
Rothmund-Thomson Syndrome, Type 2	Microphthalmia	OMIM:268400
Fontaine Progeroid Syndrome	Oligohydramnios, Umbilical hernia, Microphthalmia	OMIM:612289
Fanconi Anemia, Complementation Group D2	Microphthalmia	OMIM:227646
Fanconi Anemia, Complementation Group L	Microphthalmia	OMIM:614083
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Lateral ventricle dilatation, Molar tooth sign on MRI	OMIM:619479
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Steinfeld Syndrome	Microphthalmia	OMIM:184705
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia	OMIM:616975
Doors Syndrome	Myoclonus, Focal impaired awareness seizure, Bilateral tonic-clonic seizure	ORPHA:79500
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia	OMIM:620005
Aicardi Syndrome	Microphthalmia	ORPHA:50
Holoprosencephaly 9	Optic nerve hypoplasia, Occipital meningocele, Anophthalmia, Microphthalmia	OMIM:610829
Microphthalmia With Limb Anomalies	True anophthalmia, Microphthalmia	ORPHA:1106
Traboulsi Syndrome	Microphthalmia	OMIM:601552
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia	OMIM:609945
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Microphthalmia	ORPHA:306542
Degcags Syndrome	Polyhydramnios, Microphthalmia	OMIM:619488
Focal Dermal Hypoplasia	Umbilical hernia, Myelomeningocele, Aniridia, Anophthalmia, Microphthalmia, Spina bifida occulta	OMIM:305600
Monosomy 9P	Microphthalmia	ORPHA:261112
Osteoporosis-Pseudoglioma Syndrome	Phthisis bulbi, Microphthalmia	OMIM:259770
Cockayne Syndrome	Microphthalmia	ORPHA:191
Hydrolethalus Syndrome 1	Polyhydramnios, Anencephaly, Microphthalmia	OMIM:236680
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:468631
Holoprosencephaly 2	Iris coloboma, Remnants of the hyaloid vascular system, Chorioretinal coloboma	OMIM:157170
Fraser Syndrome	Umbilical hernia, Myelomeningocele, Encephalocele, Anophthalmia, Microphthalmia	ORPHA:2052
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Keratitis, Hearing impairment, Corneal n...	OMIM:308205
Adams-Oliver Syndrome 1	Encephalocele, Microphthalmia	OMIM:100300
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia	ORPHA:3186
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia	OMIM:616734
Charge Syndrome	Umbilical hernia, Unilateral microphthalmos, Anophthalmia, Microphthalmia, Polyhydramnios	OMIM:214800
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Molar tooth sign on MRI, Hypoplasia of the brainstem	OMIM:616546
Witteveen-Kolk Syndrome	Polyhydramnios, Branchial fistula, Microphthalmia	OMIM:613406
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Kabuki Syndrome 1	Lateral ventricle dilatation, Focal impaired awareness seizure, Bilateral tonic-clonic seizure wi...	OMIM:147920
Joubert Syndrome 38	Molar tooth sign on MRI	OMIM:619476
8Q24.3 Microdeletion Syndrome	Branchial cyst, Bilateral microphthalmos, Oligohydramnios, Spina bifida occulta, Optic nerve hypo...	ORPHA:508488
Pallister-Hall Syndrome	Oligohydramnios, Umbilical hernia, Microphthalmia	ORPHA:672
Renpenning Syndrome 1	Microphthalmia	OMIM:309500
Yunis-Varon Syndrome	Low-set ears, Cataract, Cupped ear, Prominent antihelix, Sensorineural hearing impairment, Protru...	OMIM:216340
Joubert Syndrome 39	Molar tooth sign on MRI	OMIM:619562
Tetraamelia Syndrome 1	Microphthalmia	OMIM:273395
Branchiooculofacial Syndrome	Branchial anomaly, Anophthalmia, Microphthalmia	OMIM:113620
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos	ORPHA:93325
Lowe Oculocerebrorenal Syndrome	Microphthalmia	OMIM:309000
Orofaciodigital Syndrome Type 14	Partial agenesis of the corpus callosum, Molar tooth sign on MRI	ORPHA:434179
Holoprosencephaly 1	Microphthalmia	OMIM:236100
Orofaciodigital Syndrome Xiv	Partial agenesis of the corpus callosum, Molar tooth sign on MRI	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	Branchial anomaly, Occipital encephalocele, Anophthalmia, Microphthalmia	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	Anophthalmia, Microphthalmia	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

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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

MGI Allele	Allele Type	Produced
Eef1d^{tm1(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Eef1d^{tm450623(L1L2_GT0_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Eef1d^em1(IMPC)Mbp	Inter-exon deletion	Mice
Eef1d^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Eef1d MGI:1913906

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

MicroCT E14.5-E15.5

Gross Morphology Embryo E14.5-E15.5

X-ray

X-ray

Human diseases caused by Eef1d mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data