Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608762 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 12 |
|
Bilateral tonic-clonic seizure |
OMIM:614847 |
Seizures, Benign Familial Neonatal, 3 |
|
Bilateral tonic-clonic seizure |
OMIM:608217 |
Seizures, Benign Familial Neonatal, 2 |
|
Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:121201 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:611364 |
Seizures, Benign Familial Infantile, 2 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:605751 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... |
OMIM:614417 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:604827 |
Epilepsy, Familial Temporal Lobe, 3 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura |
OMIM:611630 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure |
OMIM:619964 |
Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:603204 |
Seizures, Benign Familial Infantile, 5 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:617080 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... |
OMIM:600512 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... |
OMIM:616461 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus |
ORPHA:22 |
Centralopathic Epilepsy |
|
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures |
OMIM:117100 |
Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:604352 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:602477 |
Febrile Seizures, Familial, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:121210 |
Febrile Seizures, Familial, 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609255 |
Febrile Seizures, Familial, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609253 |
Epilepsy, Photogenic, With Spastic Diplegia And Mental Retardation |
|
Photosensitive tonic-clonic seizure |
OMIM:226800 |
Epilepsy, Myoclonic Juvenile |
|
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... |
OMIM:254770 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:215500 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... |
OMIM:616685 |
Epilepsy, Idiopathic Generalized |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
OMIM:600669 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... |
OMIM:616172 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:604233 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607628 |
Seizures, Benign Familial Neonatal, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... |
OMIM:121200 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:613863 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Bilateral tonic-clonic seizure |
OMIM:617863 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... |
OMIM:604403 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... |
OMIM:618357 |
Developmental And Epileptic Encephalopathy 9 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... |
OMIM:300088 |
Developmental And Epileptic Encephalopathy 15 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Focal clonic s... |
OMIM:615006 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607631 |
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:614499 |
Developmental And Epileptic Encephalopathy 11 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus |
OMIM:613721 |
Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:609800 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:617924 |
Epilepsy, Familial Temporal Lobe, 6 |
|
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... |
OMIM:615697 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... |
OMIM:613060 |
Epilepsy, Familial Temporal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... |
OMIM:608096 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Drusen, Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:267800 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Developmental And Epileptic Encephalopathy 104 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Focal im... |
OMIM:619970 |
Developmental And Epileptic Encephalopathy 12 |
|
Focal-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure |
OMIM:613722 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Myoclonus, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal sensory seizur... |
OMIM:615400 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure |
OMIM:617643 |
Developmental And Epileptic Encephalopathy 26 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
OMIM:616056 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:615127 |
Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:614418 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Cortical Malformations, Occipital |
|
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure |
OMIM:614115 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Perioral Myoclonia With Absences |
|
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... |
ORPHA:139426 |
Polymicrogyria, Bilateral Temporooccipital |
|
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei... |
OMIM:612691 |
Juvenile Absence Epilepsy |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
ORPHA:1941 |
Developmental And Epileptic Encephalopathy 94 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... |
OMIM:615369 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Seizures, Benign Familial Infantile, 3 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a... |
OMIM:607745 |
Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:600131 |
Febrile Seizures, Familial, 8 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:607681 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:300388 |
Epilepsy, Progressive Myoclonic 7 |
|
Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure |
OMIM:616187 |
Developmental And Epileptic Encephalopathy 24 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen... |
OMIM:615871 |
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:600176 |
Developmental And Epileptic Encephalopathy 54 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... |
OMIM:617391 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
ORPHA:101046 |
Dravet Syndrome |
|
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Visually-in... |
OMIM:607208 |
Developmental And Epileptic Encephalopathy 74 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... |
OMIM:618396 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:266100 |
Benign Familial Infantile Epilepsy |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... |
ORPHA:306 |
Developmental And Epileptic Encephalopathy 53 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Seizure, Convu... |
OMIM:617389 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:601068 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu... |
OMIM:617831 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... |
OMIM:245570 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Seizure, Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure |
OMIM:162350 |
Developmental And Epileptic Encephalopathy 31A |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic... |
OMIM:616346 |
Myoclonic Epilepsy, Familial Infantile |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Generalized myoclonic seizure, Febr... |
OMIM:605021 |
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
|
Bilateral tonic-clonic seizure |
OMIM:617709 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Myoclonus |
OMIM:608105 |
Developmental And Epileptic Encephalopathy 108 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... |
OMIM:620115 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Developmental And Epileptic Encephalopathy 34 |
|
Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, S... |
OMIM:616645 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Bilateral tonic-clonic seizure |
OMIM:619639 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:613608 |
Isolated Focal Cortical Dysplasia |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa... |
ORPHA:65683 |
Developmental And Epileptic Encephalopathy 33 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonic seizure, Seizure |
OMIM:616409 |
Unilateral Hemispheric Polymicrogyria |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Gene... |
ORPHA:101071 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (absence) seizure,... |
OMIM:607682 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Myoclonic status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with ... |
OMIM:611726 |
Developmental And Epileptic Encephalopathy 43 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Atypical absence seizure, At... |
OMIM:617113 |
Episodic Ataxia, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus |
OMIM:618924 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:617171 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Seizure, Bilateral tonic-clonic seizure, Atonic seizure |
OMIM:309530 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
Seizure, Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) s... |
OMIM:609446 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... |
OMIM:617935 |
Developmental And Epileptic Encephalopathy 30 |
|
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure |
OMIM:616341 |
Seizures, Benign Familial Infantile, 1 |
|
Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic... |
OMIM:601764 |
Female Restricted Epilepsy With Intellectual Disability |
|
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... |
ORPHA:101039 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... |
ORPHA:363549 |
Continuous Spikes And Waves During Sleep |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Typical absence se... |
ORPHA:725 |
Lennox-Gastaut Syndrome |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Atypical absence seizure, General... |
ORPHA:2382 |
Developmental And Epileptic Encephalopathy 13 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
OMIM:614558 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:610003 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Status epilepticus without prominent motor s... |
OMIM:204300 |
Epilepsy, Progressive Myoclonic, 9 |
|
Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus, Generalized myoclonic seizure, Act... |
OMIM:616540 |
Lipedema |
|
Edema |
OMIM:614103 |
Developmental And Epileptic Encephalopathy 27 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, My... |
OMIM:616139 |
Alternating Hemiplegia Of Childhood 1 |
|
Bilateral tonic-clonic seizure |
OMIM:104290 |
Developmental And Epileptic Encephalopathy 52 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Seizure, Atypical absence seizure, Gene... |
OMIM:617350 |
Developmental And Epileptic Encephalopathy 98 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, ... |
OMIM:619605 |
Developmental And Epileptic Encephalopathy 59 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal clonic seizure, Focal impa... |
OMIM:617904 |
Rolandic Epilepsy-Speech Dyspraxia Syndrome |
|
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset |
ORPHA:163721 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus |
OMIM:254800 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Encephalopathy Due To Prosaposin Deficiency |
|
Bilateral tonic-clonic seizure, Myoclonus |
ORPHA:139406 |
Lissencephaly 10 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
OMIM:618873 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Generalized myoclonic-aton... |
OMIM:618587 |
Epilepsy, Progressive Myoclonic, 6 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Myoclonic sta... |
OMIM:614018 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608636 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
ORPHA:79137 |
Familial Focal Epilepsy With Variable Foci |
|
Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seizure, Focal-onset seizure, Fo... |
ORPHA:98820 |
Myoclonic Epilepsy Of Infancy |
|
Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absen... |
ORPHA:86909 |
Epilepsy, Progressive Myoclonic, 12 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:619191 |
Developmental And Epileptic Encephalopathy 67 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... |
OMIM:618141 |
Glycogen Storage Disease 0, Muscle |
|
Bilateral tonic-clonic seizure |
OMIM:611556 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo... |
OMIM:619157 |
Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure |
OMIM:612621 |
Autosomal Recessive Frontotemporal Pachygyria |
|
Seizure, Bilateral tonic-clonic seizure |
ORPHA:329329 |
Episodic Ataxia, Type 5 |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seizure, Feb... |
OMIM:613855 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Myoclonic seizure |
OMIM:619000 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... |
OMIM:619338 |
Juvenile Myoclonic Epilepsy |
|
Generalized-onset seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absence) s... |
ORPHA:307 |
Stxbp1-Related Encephalopathy |
|
Epileptic spasm, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, Focal motor s... |
ORPHA:599373 |
Mercaptolactate-Cysteine Disulfiduria |
|
Bilateral tonic-clonic seizure |
OMIM:249650 |
Developmental And Epileptic Encephalopathy 42 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal tonic seizure, Myoclonic seizure, Focal impa... |
OMIM:617106 |
Benign Familial Neonatal-Infantile Seizures |
|
Neonatal seizure, Focal clonic seizure, Bilateral tonic-clonic seizure, Tonic seizure |
ORPHA:140927 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Bilateral tonic-clonic seizure |
OMIM:301076 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
ORPHA:208441 |
Developmental And Epileptic Encephalopathy 99 |
|
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... |
OMIM:619606 |
Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:615942 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-m... |
ORPHA:36387 |
Pontocerebellar Hypoplasia, Type 14 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure |
OMIM:619301 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure |
OMIM:618856 |
Developmental And Epileptic Encephalopathy 109 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,... |
OMIM:620145 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Focal impaired awareness seizure, S... |
ORPHA:330050 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:615362 |
Epilepsy, Progressive Myoclonic, 8 |
|
Action myoclonus, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:616230 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Developmental And Epileptic Encephalopathy 91 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal motor seizure, Myoclonic se... |
OMIM:617711 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Bilateral tonic-clonic seizure |
OMIM:618425 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Seizure, Melanin pigment aggregatio... |
OMIM:607624 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Guanidinoacetate Methyltransferase Deficiency |
|
Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Generalized myoclonic ... |
ORPHA:382 |
Spastic Paraplegia 82, Autosomal Recessive |
|
Focal-onset seizure, Bilateral tonic-clonic seizure with generalized onset |
OMIM:618770 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Landau-Kleffner Syndrome |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Generalize... |
ORPHA:98818 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Edema, Intrauterine growth retardation |
OMIM:616570 |
Progressive Myoclonic Epilepsy Type 3 |
|
Bilateral tonic-clonic seizure, Chin myoclonus, Photosensitive myoclonic seizure, Myoclonus, Limb... |
ORPHA:263516 |
Developmental And Epileptic Encephalopathy 63 |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Se... |
OMIM:617976 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Seizure, Bilateral tonic-clonic seizure, Infantile spasms |
ORPHA:250972 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Bilateral tonic-clonic seizure |
OMIM:614322 |
Developmental And Epileptic Encephalopathy 102 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... |
OMIM:619881 |
Lissencephaly 3 |
|
Seizure, Bilateral tonic-clonic seizure, Generalized tonic seizure |
OMIM:611603 |
Pontocerebellar Hypoplasia, Type 15 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure |
OMIM:619302 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Preeclampsia/Eclampsia 1 |
|
Hypertension, Edema, Intrauterine growth retardation |
OMIM:189800 |
Yoon-Bellen Neurodevelopmental Syndrome |
|
Generalized myoclonic-atonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, Status ep... |
OMIM:619701 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Bilateral tonic-clonic seizure |
OMIM:618832 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Developmental And Epileptic Encephalopathy 79 |
|
Bilateral tonic-clonic seizure with generalized onset, Migrating focal seizure, Tonic seizure, My... |
OMIM:618559 |
Congenital Disorder Of Glycosylation, Type Iaa |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:617082 |
Developmental And Epileptic Encephalopathy 106 |
|
Focal clonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure |
OMIM:620028 |
Kohlschutter-Tonz Syndrome |
|
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:226750 |
Developmental And Epileptic Encephalopathy 37 |
|
Focal hemiclonic seizure, Multifocal seizures, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:616981 |
Salt And Pepper Developmental Regression Syndrome |
|
Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus |
OMIM:609056 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Seizure, Myocl... |
OMIM:618497 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:301020 |
Developmental And Epileptic Encephalopathy 6B |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Focal-o... |
OMIM:619317 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:620317 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Systemic Primary Carnitine Deficiency |
|
Bilateral tonic-clonic seizure with focal onset |
ORPHA:158 |
Malignant Migrating Focal Seizures Of Infancy |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
ORPHA:293181 |
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects |
|
Bilateral tonic-clonic seizure, Infantile spasms |
OMIM:618470 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:620200 |
Developmental And Epileptic Encephalopathy 23 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal impaired awareness seizure... |
OMIM:615859 |
Brain Small Vessel Disease 2 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:614483 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure |
OMIM:617836 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Generalized non-motor (abs... |
OMIM:619616 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Tonic seizure |
OMIM:618090 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Myoclonus |
OMIM:617290 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Status epilepticus |
OMIM:613970 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Edema, Pulmonary edema |
OMIM:178400 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:619065 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... |
OMIM:618697 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Bilateral Generalized Polymicrogyria |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,... |
ORPHA:208447 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Bilateral tonic-clonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3 mo... |
OMIM:612736 |
Developmental And Epileptic Encephalopathy 93 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Clonic seizure, Focal-onset seiz... |
OMIM:618012 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Bilateral tonic-clonic seizure |
OMIM:617862 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Status epilepti... |
OMIM:271980 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:204200 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Seizure, Melanin pigment aggregatio... |
OMIM:256710 |
Peho-Like Syndrome |
|
Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus |
OMIM:617507 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Febrile seizure ... |
ORPHA:289266 |
Coloboma Of Macula |
|
Macular coloboma |
OMIM:120300 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Familial Infantile Myoclonic Epilepsy |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Simple feb... |
ORPHA:352582 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
Jeavons Syndrome |
|
Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, Visua... |
ORPHA:139431 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Bilateral tonic-clonic seizure |
OMIM:240900 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Bilateral tonic-clonic seizure |
ORPHA:53583 |
Rolandic Epilepsy |
|
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset sei... |
ORPHA:1945 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Atonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myocloni... |
OMIM:617810 |
Alpers-Huttenlocher Syndrome |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus |
ORPHA:726 |
Developmental And Epileptic Encephalopathy 66 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, C... |
OMIM:618067 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic seizure, Febrile seizu... |
OMIM:618917 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Bilateral tonic-clonic seizure |
ORPHA:100988 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Developmental And Epileptic Encephalopathy 103 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Tonic status epilepticus, General... |
OMIM:619913 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Focal-onset seizure, Convulsive status epilepticus |
OMIM:618760 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Severe Neonatal-Onset Encephalopathy With Microcephaly |
|
Seizure, Bilateral tonic-clonic seizure |
ORPHA:209370 |
Aminoacylase 1 Deficiency |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:609924 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal impaired ... |
OMIM:619854 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Developmental And Epileptic Encephalopathy 8 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Tonic seizure |
OMIM:300607 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepticus, Myo... |
OMIM:610539 |
Developmental And Epileptic Encephalopathy 61 |
|
Seizure, Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset |
OMIM:617933 |
Congenital Varicella Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:291 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Developmental And Epileptic Encephalopathy 90 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:301058 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:616281 |
Developmental And Epileptic Encephalopathy 41 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Focal tonic seizure, Myoclonic seizure, Myocloni... |
OMIM:617105 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure |
OMIM:604317 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Unilateral Focal Polymicrogyria |
|
Bilateral tonic-clonic seizure with focal onset, Simple febrile seizure, Focal motor seizure, Sei... |
ORPHA:268947 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus |
OMIM:614652 |
Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
Developmental And Epileptic Encephalopathy 18 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... |
OMIM:615476 |
Severe Canavan Disease |
|
Seizure, Bilateral tonic-clonic seizure |
ORPHA:314911 |
Oxoglutarate Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure |
OMIM:203740 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Developmental And Epileptic Encephalopathy 4 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Status epilepticus, Generalized myoclonic seizur... |
OMIM:612164 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Premature graying of hair, Seizure, Hypo... |
ORPHA:33445 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Bilateral tonic-clonic seizure |
OMIM:619278 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Status epilepticus, Fe... |
OMIM:620292 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Rasmussen Subacute Encephalitis |
|
Epilepsia partialis continua, Epileptic spasm, Repeated focal motor seizures, Bilateral tonic-clo... |
ORPHA:1929 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect |
OMIM:600776 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:615637 |
Infantile Cerebellar-Retinal Degeneration |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:614559 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:300423 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Bilateral tonic-clonic seizure |
OMIM:618237 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Focal ... |
ORPHA:485350 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Seizure, Bilateral tonic-clonic seizure |
ORPHA:488635 |
Sarcosinemia |
|
Bilateral tonic-clonic seizure |
ORPHA:3129 |
Developmental And Epileptic Encephalopathy 47 |
|
Focal-onset seizure, Status epilepticus, Bilateral tonic-clonic seizure, Tonic seizure |
OMIM:617166 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal impaired awareness seizure |
OMIM:617493 |
Foxg1 Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Status epilepticus, Myoclonus |
ORPHA:561854 |
Myoclonic Epilepsy Of Lafora |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... |
OMIM:254780 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Seizure, Bilateral tonic-clonic seizure, Focal motor seizure |
OMIM:619911 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Bilateral tonic-clonic seizure |
OMIM:615031 |
3-Methylglutaconic Aciduria, Type Viia |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic se... |
OMIM:619835 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
OMIM:619428 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Seizure |
OMIM:600721 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Seizure, Multifocal seizures, Bilateral tonic-clonic seizure, Generalized non-motor (absence) sei... |
OMIM:618170 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Focal... |
OMIM:617600 |
Childhood Absence Epilepsy |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ... |
ORPHA:64280 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure |
OMIM:619827 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia, Umbilical hernia |
OMIM:615297 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Spastic Ataxia 5, Autosomal Recessive |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:614487 |
Hyperekplexia 3 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:614618 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:609054 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Bilateral tonic-clonic seizure, Focal motor seizure |
OMIM:618235 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia, Polyhydramnios |
ORPHA:3469 |
Spinocerebellar Ataxia 48 |
|
Bilateral tonic-clonic seizure |
OMIM:618093 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:607876 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:615716 |
Methionine Malabsorption Syndrome |
|
Seizure, White hair, Blue irides |
OMIM:250900 |
Microphthalmia, Isolated 5 |
|
Microphthalmia, Cystoid macular edema |
OMIM:611040 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300558 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Dk1-Cdg |
|
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Infantile spasms |
ORPHA:91131 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:619877 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia |
OMIM:218670 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure |
OMIM:616083 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Typical absence seizure, Focal tonic seizure... |
ORPHA:168491 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Seizure, Bilateral tonic-clonic seizure, Status epilepticus |
ORPHA:529665 |
New-Onset Refractory Status Epilepticus |
|
Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure with focal onset, Focal... |
ORPHA:363558 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Focal myoclonic seizure |
ORPHA:464282 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Bilateral tonic-clonic seizure |
ORPHA:457205 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus |
ORPHA:313772 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
Sandhoff Disease, Infantile Form |
|
Seizure, Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure |
ORPHA:309155 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:617468 |
Lafora Disease |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... |
ORPHA:501 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele |
ORPHA:1528 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Bilateral tonic-clonic seizure |
OMIM:540000 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, Focal impaired awar... |
OMIM:618325 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:616171 |
Chromosome 22Q13 Duplication Syndrome |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:615538 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Seizure, Bilateral tonic-clonic seizure with generalized onset, Atypical absence seizure, Bilater... |
ORPHA:98795 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
Cln3 Disease |
|
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure |
ORPHA:228346 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema |
OMIM:618773 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Microphthalmia |
OMIM:613885 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Myoclonus, Nocturnal seizures |
OMIM:619725 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure |
OMIM:619983 |
Congenital Toxoplasmosis |
|
Microphthalmia, Ascites, Intrauterine growth retardation |
ORPHA:858 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Bilateral tonic-clonic seizure |
OMIM:618120 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Cofs Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:1466 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Nocturnal seizures, Bilateral tonic-clonic seizure, Focal hyperkinetic seizure |
ORPHA:98784 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
Sulfite Oxidase Deficiency, Isolated |
|
Bilateral tonic-clonic seizure |
OMIM:272300 |
Houge-Janssens Syndrome 3 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seiz... |
OMIM:618354 |
Cat-Eye Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:195 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Occipital encephalocele |
ORPHA:324416 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... |
ORPHA:897 |
X-Linked Intellectual Disability, Hedera Type |
|
Atonic seizure, Bilateral tonic-clonic seizure |
ORPHA:93952 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Canavan Disease |
|
Epileptic spasm, Bilateral tonic-clonic seizure |
OMIM:271900 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Abnormal left ventricular function, Microphthalmia, Cardiomyopathy |
OMIM:613155 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Seizure, Bilateral tonic-clonic seizure, Myoclonic spasms |
ORPHA:79264 |
Lissencephaly Due To Tuba1A Mutation |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms |
ORPHA:171680 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Seizure, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411515 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:1617 |
Familial Exudative Vitreoretinopathy |
|
Macular telangiectasia, Lymphedema, Macular edema, Vitreous hemorrhage, Retinal neovascularizatio... |
ORPHA:891 |
Pitt-Hopkins-Like Syndrome 1 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus, F... |
OMIM:610042 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Orbital encephalocele, Anophthalmia |
OMIM:164180 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Hypertrophic cardiomyopathy, Oligohydramnios |
OMIM:619053 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Seizure, Bilateral tonic-clonic seizure |
ORPHA:457240 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Polyhydramnios |
ORPHA:2547 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Bilateral tonic-clonic seizure |
OMIM:619356 |
Behavioral Variant Of Frontotemporal Dementia |
|
Bilateral tonic-clonic seizure |
ORPHA:275864 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Dilated cardiomyopathy, Reduced systolic function |
OMIM:618805 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Generalized myoclonic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure |
OMIM:615501 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
Biemond Syndrome Type 2 |
|
Microphthalmia |
ORPHA:141333 |
Seckel Syndrome 2 |
|
Microphthalmia, Heart murmur |
OMIM:606744 |
D-Glyceric Aciduria |
|
Bilateral tonic-clonic seizure, Seizure, Status epilepticus, Focal clonic seizure, Myoclonus |
OMIM:220120 |
Hartsfield Syndrome |
|
Encephalocele, Microphthalmia, Intrauterine growth retardation |
ORPHA:2117 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
ORPHA:488613 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s... |
OMIM:301091 |
Spinocerebellar Ataxia With Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Myoclonus |
ORPHA:254881 |
17Q12 Microduplication Syndrome |
|
Microphthalmia, Polyhydramnios |
ORPHA:261272 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Seizure, Bilateral tonic-clonic seizure, Infantile spasms |
ORPHA:79243 |
Griscelli Syndrome Type 2 |
|
Hypopigmentation of hair, Partial albinism, Premature graying of hair, Seizure, Iris hypopigmenta... |
ORPHA:79477 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Bilateral tonic-clonic seizure |
ORPHA:79350 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... |
ORPHA:894 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Red hair, Hypopigmentation of the skin, Hypoglycemic seizures |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Red hair, Hypopigmentation of the skin, Hypoglycemic seizures |
ORPHA:71526 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:618381 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:48431 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Seizure, Bilateral tonic-clonic seizure, Infantile spasms |
ORPHA:544503 |
Joubert Syndrome 22 |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:615665 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Bilateral tonic-clonic seizure |
ORPHA:199354 |
Pelger-Huet Anomaly |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:169400 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Pulmonary arterial hypertension |
OMIM:300887 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure |
ORPHA:42 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Hypoglycemic seizures, Sei... |
ORPHA:480864 |
Lissencephaly 8 |
|
Microphthalmia, Occipital encephalocele |
OMIM:617255 |
Pierpont Syndrome |
|
Microphthalmia |
ORPHA:487825 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Seizure, Bilateral tonic-clonic seizure, Focal myoclonic seizure, Focal impaired awareness seizure |
ORPHA:369929 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus |
OMIM:616672 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Seizure, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus |
ORPHA:364028 |
Migraine, Familial Hemiplegic, 2 |
|
Bilateral tonic-clonic seizure, Focal motor seizure |
OMIM:602481 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure... |
OMIM:619580 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Bilateral tonic-clonic seizure |
OMIM:616351 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu... |
OMIM:614207 |
Ataxia-Telangiectasia |
|
Premature graying of hair, Seizure, Hypopigmentation of hair, Multiple cafe-au-lait spots |
ORPHA:100 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
Pierpont Syndrome |
|
Microphthalmia |
OMIM:602342 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Bone Marrow Failure Syndrome 5 |
|
Bilateral tonic-clonic seizure |
OMIM:618165 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Bilateral tonic-clonic seizure |
ORPHA:453510 |
Developmental And Epileptic Encephalopathy 49 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Myoclonus |
OMIM:617281 |
Bilateral Polymicrogyria |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,... |
ORPHA:268940 |
Warburg Micro Syndrome 1 |
|
Microphthalmia |
OMIM:600118 |
Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
Monosomy 18P |
|
Microphthalmia, Hypertension, Lymphedema |
ORPHA:1598 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia, Umbilical hernia, Congestive heart failure, Edema |
ORPHA:2505 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:620070 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Microphthalmia, Intrauterine growth retardation, Oligohydramnios |
ORPHA:228390 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:620300 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:618316 |
Nivelon-Nivelon-Mabille Syndrome |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:600092 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177910 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation |
OMIM:603194 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Seizure, Bilateral tonic-clonic seizure, Focal myoclonic seizure |
ORPHA:481152 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation |
ORPHA:290 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia |
OMIM:601349 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Bilateral tonic-clonic seizure |
ORPHA:369840 |
Hydrolethalus |
|
Microphthalmia, Anophthalmia, Anencephaly, Polyhydramnios |
ORPHA:2189 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Seizur... |
ORPHA:457351 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:614072 |
Meckel Syndrome, Type 5 |
|
Microphthalmia, Occipital encephalocele, Anencephaly |
OMIM:611561 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal hemiclonic seizure, Focal-... |
OMIM:616973 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Trisomy 13 |
|
Anophthalmia, Hydrops fetalis, Aplasia/Hypoplasia of the iris, Microphthalmia, Intrauterine growt... |
ORPHA:3378 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Chylothorax, Micropht... |
OMIM:153400 |
Classic Phenylketonuria |
|
Seizure, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:79254 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, General... |
ORPHA:79351 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:615181 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure |
OMIM:615398 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia |
OMIM:619694 |
Temtamy Syndrome |
|
Microphthalmia |
ORPHA:1777 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Sei... |
ORPHA:395 |
Frontonasal Dysplasia 1 |
|
Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele |
OMIM:136760 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia |
OMIM:602501 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Bilateral tonic-clonic seizure, Myoclonic spasms |
ORPHA:478029 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Generalized non-motor (absence) ... |
OMIM:300912 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia, Dehydration |
OMIM:214150 |
Developmental And Epileptic Encephalopathy 100 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... |
OMIM:619777 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:1438 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Arrhythmia |
ORPHA:3191 |
Ritscher-Schinzel Syndrome 4 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:619435 |
Chromosome Xp11.3 Deletion Syndrome |
|
Bilateral tonic-clonic seizure |
OMIM:300578 |
Congenital Fibrinogen Deficiency |
|
Microphthalmia, Tachycardia, Internal hemorrhage |
ORPHA:335 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:610756 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:93267 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair |
ORPHA:2221 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia, Lymphedema |
OMIM:152950 |
3P25.3 Microdeletion Syndrome |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
ORPHA:435638 |
Bresek Syndrome |
|
Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation |
ORPHA:85284 |
Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia, Tricuspid regurgitation |
OMIM:618652 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:615474 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure |
ORPHA:3044 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia |
OMIM:601794 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia, Oligohydramnios |
OMIM:614219 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
W Syndrome |
|
Bilateral tonic-clonic seizure |
ORPHA:2804 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation |
OMIM:611134 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Bilateral tonic-clonic seizure |
OMIM:201475 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Generalized tonic seizure |
OMIM:617193 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia |
OMIM:613730 |
Warburg Micro Syndrome 3 |
|
Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:614222 |
Vitreoretinochoroidopathy |
|
Microphthalmia, Vitreous hemorrhage, Retinal neovascularization |
OMIM:193220 |
Biotinidase Deficiency |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal motor seizure, Seizure, Generalized myocl... |
ORPHA:79241 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia, Heart murmur, Intrauterine growth retardation |
ORPHA:2728 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Early Infantile Epileptic Encephalopathy |
|
Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Focal-onset seizure... |
ORPHA:1934 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
ORPHA:329308 |
Amish Lethal Microcephaly |
|
Bilateral tonic-clonic seizure |
ORPHA:99742 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia, Increased nuchal translucency, Oligohydramnios |
OMIM:618494 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma, Umbilical hernia, Pulmonic stenosis |
OMIM:618914 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:300863 |
Developmental And Epileptic Encephalopathy 95 |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Status epilept... |
OMIM:618143 |
Hermansky-Pudlak Syndrome 10 |
|
Bilateral tonic-clonic seizure, Focal myoclonic seizure |
OMIM:617050 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Bilateral tonic-clonic seizure |
ORPHA:423479 |
Gracile Bone Dysplasia |
|
Aniridia, Microphthalmia, Ascites |
OMIM:602361 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Encephalocele, Portal hypertension, Pulmonary arterial hypertension,... |
ORPHA:974 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia |
OMIM:613153 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Microphthalmia, Occipital encephalocele, Optic nerve hypoplasia, Cardiomyopathy |
ORPHA:370959 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
1Q44 Microdeletion Syndrome |
|
Bilateral tonic-clonic seizure |
ORPHA:238769 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia |
ORPHA:2788 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Infantile spasms |
OMIM:620224 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
Sandhoff Disease |
|
Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:268800 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Mic... |
OMIM:300952 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
OMIM:614231 |
Jaberi-Elahi Syndrome |
|
Bilateral tonic-clonic seizure |
OMIM:617988 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:615802 |
Temtamy Syndrome |
|
Aortic regurgitation, Microphthalmia |
OMIM:218340 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:617798 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Joubert Syndrome 14 |
|
Encephalocele, Meningocele, Intracranial hemorrhage, Hypertension, Microphthalmia |
OMIM:614424 |
Squalene Synthase Deficiency |
|
Seizure, Abnormality of hair pigmentation |
OMIM:618156 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Seizure, Bilateral tonic-clonic seizure, Myoclonus |
ORPHA:247262 |
Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Edema, Retinal hemorrhage, Hypoplasia of the iris... |
OMIM:609049 |
Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:85194 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:618804 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Tricuspid regurgitation, Increased nuchal translucency, Mitral regurgita... |
OMIM:619879 |
Glass Syndrome |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se... |
OMIM:612313 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Angelman Syndrome Due To A Point Mutation |
|
Seizure, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411511 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation |
OMIM:617914 |
Galloway-Mowat Syndrome 3 |
|
Edema, Oligohydramnios, Hypertension, Microphthalmia, Intrauterine growth retardation |
OMIM:617729 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia, Retinal neovascularization |
OMIM:305390 |
Neuromuscular Oculoauditory Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms |
OMIM:618733 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:163966 |
Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Spina bifida occulta |
OMIM:169550 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia, Intrauterine growth retardation |
ORPHA:2470 |
Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... |
ORPHA:999 |
Refsum Disease |
|
Heart block, Microphthalmia, Cardiomyopathy |
ORPHA:773 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
ORPHA:496641 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... |
ORPHA:3440 |
Rere-Related Neurodevelopmental Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:494344 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Bilateral tonic-clonic seizure |
ORPHA:436159 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Toni... |
OMIM:620024 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele |
OMIM:607597 |
Baraitser-Winter Syndrome 1 |
|
Microphthalmia, Aortic valve stenosis |
OMIM:243310 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Seizure, Bilateral tonic-clonic seizure, Myoclonic spasms |
OMIM:252160 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Atonic seizure, Bilateral tonic-clonic seizure |
ORPHA:2976 |
Heart And Brain Malformation Syndrome |
|
Microphthalmia, Polyhydramnios |
OMIM:616920 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:614105 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair, Hypoglycemic seizures |
OMIM:609734 |
Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Joubert Syndrome 37 |
|
Microphthalmia |
OMIM:619185 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Abnormally large globe |
OMIM:615249 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia |
OMIM:167730 |
Webb-Dattani Syndrome |
|
Bilateral tonic-clonic seizure |
OMIM:615926 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia |
OMIM:612379 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Fanconi Anemia, Complementation Group I |
|
Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation |
OMIM:609053 |
Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:616395 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Seizure, Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure |
OMIM:617799 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:163649 |
Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
Microcephaly-Micromelia Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Oligohydramnios |
OMIM:251230 |
Fetal Alcohol Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:1915 |
Frontofacionasal Dysplasia |
|
Encephalocele, Microphthalmia |
ORPHA:1791 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset |
ORPHA:163681 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure |
OMIM:257300 |
Moebius Syndrome |
|
Microphthalmia |
OMIM:157900 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
Mosaic Trisomy 9 |
|
Spina bifida, Polyhydramnios, Hydrops fetalis, Microphthalmia, Intrauterine growth retardation, O... |
ORPHA:99776 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
Weaver Syndrome |
|
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:277590 |
Persistent Hyperplastic Primary Vitreous |
|
Phthisis bulbi, Buphthalmos, Macular hypoplasia, Microphthalmia, Hemorrhage of the eye |
ORPHA:91495 |
X Small Rings |
|
Seizure, Bilateral tonic-clonic seizure |
ORPHA:96201 |
Tetraamelia-Multiple Malformations Syndrome |
|
Microphthalmia, Septo-optic dysplasia, Polyhydramnios |
ORPHA:3301 |
Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos |
OMIM:615085 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... |
OMIM:203300 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Hyphema |
OMIM:221900 |
Japanese Encephalitis |
|
Status epilepticus, Bilateral tonic-clonic seizure, Focal motor seizure, Myoclonus |
ORPHA:79139 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia |
OMIM:617883 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Spina bifida, Polyhydramnios, Microphthalmia, Intrauterine growth retardation |
ORPHA:3412 |
Carney Complex, Type 1 |
|
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Generalized-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure |
OMIM:620066 |
Oliver Syndrome |
|
Bilateral tonic-clonic seizure |
ORPHA:2920 |
Stevenson-Carey Syndrome |
|
Microphthalmia |
OMIM:611961 |
Oculopalatocerebral Syndrome |
|
Microphthalmia |
OMIM:257910 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Microphthalmia, Intrauterine growth retardation, Oligohydramnios |
OMIM:613451 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:77298 |
Alternating Hemiplegia Of Childhood |
|
Seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Status epilepticus |
ORPHA:2131 |
Marden-Walker Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:248700 |
Melas |
|
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonus |
ORPHA:550 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia, Polyhydramnios, Edema |
OMIM:302960 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:618426 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... |
ORPHA:3214 |
Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
Martsolf Syndrome 1 |
|
Microphthalmia, Congestive heart failure, Cardiac arrest, Cardiomyopathy |
OMIM:212720 |
Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
ORPHA:369837 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia |
OMIM:614526 |
Kinsship Syndrome |
|
Focal-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myo... |
OMIM:619297 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:301040 |
Papillorenal Syndrome |
|
Microphthalmia, Hypertension, Edema |
OMIM:120330 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Umbilical hernia, Bilateral microphthalmos |
ORPHA:369891 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:1352 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Infantile spasms |
ORPHA:255210 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia |
ORPHA:404440 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Bilateral tonic-clonic seizure |
ORPHA:79124 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia, Severe intrauterine growth retardation |
OMIM:241410 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic spasms |
ORPHA:447997 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se... |
ORPHA:466943 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia, Pulmonary arterial hypertension |
OMIM:616449 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Seizure, Bilateral tonic-clonic seizure with focal onset |
ORPHA:488627 |
Fanconi Anemia, Complementation Group F |
|
Microphthalmia, Polyhydramnios, Intrauterine growth retardation |
OMIM:603467 |
Chediak-Higashi Syndrome |
|
Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Seizure, Giant melanosomes in melano... |
OMIM:214500 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia |
OMIM:206920 |
Lujo Hemorrhagic Fever |
|
Seizure, Bilateral tonic-clonic seizure |
ORPHA:319213 |
Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia |
OMIM:120200 |
Warburg Micro Syndrome 4 |
|
Microphthalmia |
OMIM:615663 |
Cocaine Intoxication |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Atypical absence status epilepticus, Seizure... |
ORPHA:90068 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Bilateral microphthalmos |
ORPHA:2399 |
Curry-Jones Syndrome |
|
Microphthalmia |
ORPHA:1553 |
Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia, Corneal neovascularization, Telangiectasia |
OMIM:278730 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:610505 |
D-Bifunctional Protein Deficiency |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:261515 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Intrauterine growth retardation, Bilateral microphthalmos |
OMIM:610758 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Microphthalmia, Anencephaly, Pulmonic stenosis |
OMIM:619148 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Bilateral tonic-clonic seizure, Myoclonic spasms |
ORPHA:73224 |
Frontorhiny |
|
Encephalocele, Microphthalmia, Cranium bifidum occultum, Basal encephalocele |
ORPHA:391474 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Micro Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:2510 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Microphthalmia, Dilated cardiomyopathy, Pulmonic stenosis |
OMIM:253800 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure |
ORPHA:466950 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia |
OMIM:617306 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
Incontinentia Pigmenti |
|
Telangiectasia of the skin, Congestive heart failure, Retinal hemorrhage, Pulmonary arterial hype... |
ORPHA:464 |
Walker-Warburg Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:899 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia |
OMIM:617244 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Polyhydramnios, Increased nuchal translucency, Microphthalmia, Ascites, Int... |
ORPHA:1052 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia |
OMIM:616538 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:244300 |
Mosaic Trisomy 1 |
|
Microphthalmia, Increased nuchal translucency, Polyhydramnios |
ORPHA:1692 |
Galloway-Mowat Syndrome 1 |
|
Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation, Oligohydramnios |
OMIM:251300 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Oligohydramnios |
ORPHA:364577 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure |
OMIM:619512 |
De Sanctis-Cacchione Syndrome |
|
Bilateral tonic-clonic seizure |
OMIM:278800 |
Kapur-Toriello Syndrome |
|
Microphthalmia |
ORPHA:2328 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray... |
ORPHA:163746 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia |
OMIM:620098 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia |
OMIM:612530 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia |
OMIM:234050 |
Atelis Syndrome 2 |
|
Microphthalmia, Vitreous hemorrhage, Pulmonic stenosis, Supravalvar pulmonary stenosis |
OMIM:620185 |
Oculofaciocardiodental Syndrome |
|
Microphthalmia |
ORPHA:2712 |
Hallermann-Streiff Syndrome |
|
Bilateral tonic-clonic seizure |
OMIM:234100 |
3Q29 Microdeletion Syndrome |
|
Microphthalmia, Pulmonary arterial hypertension |
ORPHA:65286 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
ORPHA:99885 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Edema, Lymphedema, Chylothorax, Microphthalmia, Pleural effusion |
ORPHA:2526 |
Trisomy 18 |
|
Spina bifida, Anencephaly, Oligohydramnios, Microphthalmia, Intrauterine growth retardation |
ORPHA:3380 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Microphthalmia, Encephalocele |
OMIM:613150 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia |
OMIM:618571 |
3Q29 Microduplication Syndrome |
|
Aniridia, Microphthalmia |
ORPHA:251038 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Seizure |
OMIM:301044 |
Ritscher-Schinzel Syndrome 3 |
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Microphthalmia |
OMIM:619135 |
Trichothiodystrophy 1, Photosensitive |
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Microphthalmia, Telangiectasia |
OMIM:601675 |
X-Linked Dominant Chondrodysplasia Punctata |
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Microphthalmia |
ORPHA:35173 |
Nance-Horan Syndrome |
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Microphthalmia |
OMIM:302350 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Bilateral tonic-clonic seizure, Typical absence seizure, Seizure, Generalized myoclonic seizure, ... |
ORPHA:268261 |
Mycophenolate Mofetil Embryopathy |
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Microphthalmia, Hydrops fetalis |
ORPHA:268249 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
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Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:280000 |
Fryns Syndrome |
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Microphthalmia, Polyhydramnios |
ORPHA:2059 |
Encephalocraniocutaneous Lipomatosis |
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Hypoplasia of the iris, Microphthalmia |
OMIM:613001 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
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Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Febrile seizure (within the age ran... |
ORPHA:459070 |
Warburg Micro Syndrome 2 |
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Microphthalmia |
OMIM:614225 |
Focal Dermal Hypoplasia |
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Telangiectasia of the skin, Spina bifida, Hypoplasia of the iris, Umbilical hernia, Microphthalmia |
ORPHA:2092 |
Cohen Syndrome |
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Microphthalmia, Intrauterine growth retardation |
ORPHA:193 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
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Encephalocele, Microphthalmia, Optic nerve hypoplasia |
OMIM:614643 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
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Encephalocele, Microphthalmia, Umbilical hernia, Polyhydramnios |
ORPHA:2166 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
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Microphthalmia, Pulmonary arterial hypertension |
ORPHA:464738 |
Premature Aging Syndrome, Penttinen Type |
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Corneal stromal edema, Microphthalmia |
OMIM:601812 |
Pseudotrisomy 13 Syndrome |
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Encephalocele, Microphthalmia |
OMIM:264480 |
Joubert Syndrome 2 |
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Encephalocele, Microphthalmia |
OMIM:608091 |
Oculodentodigital Dysplasia, Autosomal Recessive |
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Microphthalmia |
OMIM:257850 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se... |
ORPHA:513456 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
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Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos, Microphthalmia |
OMIM:236670 |
Combined Oxidative Phosphorylation Deficiency 15 |
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Seizure, Bilateral tonic-clonic seizure with focal onset |
OMIM:614947 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
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Microphthalmia |
OMIM:156610 |
Oculoauricular Syndrome |
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Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta |
OMIM:612109 |
Curry-Jones Syndrome |
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Occipital meningocele, Microphthalmia, Lipomyelomeningocele |
OMIM:601707 |
Duane-Radial Ray Syndrome |
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Microphthalmia, Spina bifida occulta, Optic disc hypoplasia |
OMIM:607323 |
Holoprosencephaly |
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Encephalocele, Anophthalmia, Spinal dysraphism, Branchial anomaly, Microphthalmia, Arrhythmia |
ORPHA:2162 |
Oculo-Palato-Cerebral Syndrome |
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Microphthalmia, Intrauterine growth retardation |
ORPHA:2714 |
Cat Eye Syndrome |
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Microphthalmia, Umbilical hernia, Pulmonic stenosis |
OMIM:115470 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
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Bilateral tonic-clonic seizure |
OMIM:252010 |
Pelvis-Shoulder Dysplasia |
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Hydranencephaly, Bilateral microphthalmos, Spina bifida |
ORPHA:2839 |
Meckel Syndrome |
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Encephalocele, Anophthalmia, Anencephaly, Aplasia/Hypoplasia of the iris, Microphthalmia, Oligohy... |
ORPHA:564 |
Holoprosencephaly 14 |
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Bilateral tonic-clonic seizure |
OMIM:619895 |
1Q21.1 Microdeletion Syndrome |
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Microphthalmia, Intrauterine growth retardation |
ORPHA:250989 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
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Microphthalmia, Anophthalmia |
OMIM:615877 |
Microphthalmia, Lenz Type |
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Microphthalmia |
ORPHA:568 |
8Q21.11 Microdeletion Syndrome |
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Microphthalmia |
ORPHA:284160 |
Incontinentia Pigmenti |
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Hypoplasia of the fovea, Microphthalmia, Retinal hemorrhage |
OMIM:308300 |
Fraser Syndrome 2 |
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Microphthalmia, Oligohydramnios |
OMIM:617666 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Histiocytoid cardiomyopathy, Microphthalmia, Arrhythmia, Junctional ectopic tachycardia |
OMIM:309801 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
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Microphthalmia |
OMIM:618727 |
Chromosome 8Q21.11 Deletion Syndrome |
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Microphthalmia |
OMIM:614230 |
Microphthalmia, Syndromic 9 |
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Intrauterine growth retardation, Anophthalmia, Bilateral microphthalmos, Pulmonic stenosis |
OMIM:601186 |
Xeroderma Pigmentosum, Complementation Group B |
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Microphthalmia |
OMIM:610651 |
Microphthalmia, Syndromic 3 |
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Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia |
OMIM:206900 |
Teebi-Shaltout Syndrome |
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Microphthalmia, Aortic valve stenosis |
OMIM:272950 |
Fanconi Anemia, Complementation Group C |
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Microphthalmia, Intrauterine growth retardation |
OMIM:227645 |
Jacobsen Syndrome |
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Microphthalmia, Macular hypoplasia, Intrauterine growth retardation |
OMIM:147791 |
Ogden Syndrome |
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Generalized-onset seizure, Bilateral tonic-clonic seizure |
OMIM:300855 |
22Q11.2 Deletion Syndrome |
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Gastrointestinal hemorrhage, Polyhydramnios, Spina bifida, Meningocele, Occipital myelomeningocel... |
ORPHA:567 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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Microphthalmia, Pulmonary arterial hypertension, Portal hypertension, Intrauterine growth retarda... |
OMIM:620005 |
Dubowitz Syndrome |
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Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation |
OMIM:223370 |
Cousin Syndrome |
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Hydranencephaly, Microphthalmia |
OMIM:260660 |
Adams-Oliver Syndrome 1 |
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Encephalocele, Hypertension, Pulmonary arterial hypertension, Pulmonic stenosis, Microphthalmia, ... |
OMIM:100300 |
Phace Association |
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Microphthalmia, Optic nerve hypoplasia |
OMIM:606519 |
Stromme Syndrome |
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Microphthalmia, Optic nerve hypoplasia |
OMIM:243605 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
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Bilateral tonic-clonic seizure |
ORPHA:457359 |
Myhre Syndrome |
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Pericardial effusion, Hypertension, Microphthalmia, Aortic valve stenosis, Intrauterine growth re... |
OMIM:139210 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
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Microphthalmia |
OMIM:110100 |
Hartsfield Syndrome |
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Bilateral tonic-clonic seizure |
OMIM:615465 |
Yunis-Varon Syndrome |
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Polyhydramnios, Increased nuchal translucency, Bilateral microphthalmos, Hydrops fetalis, Renovas... |
ORPHA:3472 |
Cockayne Syndrome B |
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Hypoplasia of the iris, Hypertension, Microphthalmia, Arrhythmia, Intrauterine growth retardation |
OMIM:133540 |
Ohdo Syndrome, X-Linked |
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Microphthalmia |
OMIM:300895 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
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Encephalocele, Microphthalmia |
OMIM:616300 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Branchial cyst, Polyhydramnios, Pulmonary arterial hypertension, Microphthalmia, Intrauterine gro... |
OMIM:620186 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Aortic regurgitation, Microphthalmia, Optic nerve hypoplasia, Spina bifida |
ORPHA:508498 |
Fanconi Anemia |
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Spina bifida, Aplasia/Hypoplasia of the iris, Intrauterine growth retardation, Umbilical hernia, ... |
ORPHA:84 |
Cockayne Syndrome Type 3 |
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Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Increased blood pressure, Microphthalmia |
ORPHA:90324 |
Pallister-Hall Syndrome |
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Microphthalmia, Intrauterine growth retardation |
OMIM:146510 |
2Q31.1 Microdeletion Syndrome |
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Microphthalmia |
ORPHA:251014 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:2250 |
Oculodentodigital Dysplasia |
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Microphthalmia, Arrhythmia |
OMIM:164200 |
Roberts Syndrome |
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Microphthalmia, Severe intrauterine growth retardation, Polyhydramnios |
ORPHA:3103 |
Momo Syndrome |
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Bilateral microphthalmos |
ORPHA:2563 |
Monosomy 9Q22.3 |
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Microphthalmia, Umbilical hernia |
ORPHA:77301 |
Fanconi Anemia, Complementation Group L |
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Microphthalmia, Intrauterine growth retardation |
OMIM:614083 |
Fanconi Anemia, Complementation Group E |
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Microphthalmia |
OMIM:600901 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
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Microphthalmia |
ORPHA:85167 |
Neu-Laxova Syndrome 1 |
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Spina bifida, Polyhydramnios, Short umbilical cord, Small placenta, Hydranencephaly, Microphthalm... |
OMIM:256520 |
Gaucher Disease |
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Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
ORPHA:355 |
Hallermann-Streiff Syndrome |
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Microphthalmia, Congestive heart failure |
ORPHA:2108 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
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Microphthalmia |
ORPHA:1236 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
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Microphthalmia, Intrauterine growth retardation, Oligohydramnios |
OMIM:608670 |
Microphthalmia With Linear Skin Defects Syndrome |
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Tricuspid regurgitation, Anophthalmia, Dilated cardiomyopathy, Mitral regurgitation, Arrhythmia, ... |
ORPHA:2556 |
Basal Cell Nevus Syndrome 1 |
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Microphthalmia, Spina bifida |
OMIM:109400 |
Trichothiodystrophy |
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Cardiomyopathy, Bilateral microphthalmos, Umbilical hernia, Intrauterine growth retardation |
ORPHA:33364 |
Fanconi Anemia, Complementation Group A |
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Microphthalmia |
OMIM:227650 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:620330 |
Meckel Syndrome, Type 1 |
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Occipital encephalocele, Large placenta, Anencephaly, Microphthalmia, Intrauterine growth retarda... |
OMIM:249000 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Unilateral microphthalmos |
OMIM:618874 |
Oculocerebrorenal Syndrome Of Lowe |
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Dehydration, Buphthalmos, Joint swelling, Umbilical hernia, Microphthalmia |
ORPHA:534 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
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Generalized myoclonic-atonic seizure, Seizure, Bilateral tonic-clonic seizure |
OMIM:614756 |
Isolated Arrhinia |
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Microphthalmia |
ORPHA:1134 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:612474 |
Orofaciodigital Syndrome Type 2 |
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Bilateral tonic-clonic seizure |
ORPHA:2751 |
Rothmund-Thomson Syndrome, Type 2 |
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Microphthalmia, Telangiectasia |
OMIM:268400 |
Fontaine Progeroid Syndrome |
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Tricuspid regurgitation, Pulmonary arterial hypertension, Umbilical hernia, Microphthalmia, Intra... |
OMIM:612289 |
Treacher-Collins Syndrome |
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Encephalocele, Microphthalmia, Branchial fistula |
ORPHA:861 |
Brittle Cornea Syndrome |
|
Abnormality of hair pigmentation |
ORPHA:90354 |
Fryns Syndrome |
|
Microphthalmia, Chylothorax, Polyhydramnios |
OMIM:229850 |
Degcags Syndrome |
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Tachycardia, Polyhydramnios, Pulmonary arterial hypertension, Pulmonic stenosis, Microphthalmia, ... |
OMIM:619488 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:616975 |
Bartsocas-Papas Syndrome 1 |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:263650 |
Acro-Renal-Ocular Syndrome |
|
Microphthalmia, Optic disc hypoplasia |
ORPHA:959 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia |
ORPHA:2612 |
Doors Syndrome |
|
Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure |
ORPHA:79500 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia |
OMIM:201180 |
Mend Syndrome |
|
Microphthalmia, Aortic valve stenosis |
ORPHA:401973 |
Holoprosencephaly 7 |
|
Occipital meningocele, Microphthalmia, Bilateral microphthalmos |
OMIM:610828 |
Monosomy 13Q14 |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:1587 |
Aicardi Syndrome |
|
Microphthalmia, Spina bifida |
OMIM:304050 |
Fanconi Anemia, Complementation Group D2 |
|
Microphthalmia |
OMIM:227646 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2538 |
Charge Syndrome |
|
Microphthalmia, Anophthalmia, Polyhydramnios, Intrauterine growth retardation |
ORPHA:138 |
Microphthalmia, Syndromic 2 |
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Anophthalmia, Phthisis bulbi, Umbilical hernia, Pulmonic stenosis, Microphthalmia, Aortic valve s... |
OMIM:300166 |
Holoprosencephaly 9 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610829 |
Steinfeld Syndrome |
|
Microphthalmia |
OMIM:184705 |
Cockayne Syndrome |
|
Microphthalmia, Hypertension, Retinal hemorrhage |
ORPHA:191 |
Choreoacanthocytosis |
|
Seizure, Bilateral tonic-clonic seizure |
ORPHA:2388 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Epileptic spasm, Seizure, Myoclonus, Bilateral tonic-clonic seizure on awakening, Generalized ton... |
ORPHA:438213 |
Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia |
OMIM:127000 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Microphthalmia |
OMIM:617925 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Intrauterine growth retardation, Bilateral microphthalmos, Optic nerve hypoplasia |
ORPHA:468631 |
Aicardi Syndrome |
|
Microphthalmia |
ORPHA:50 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, True anophthalmia |
ORPHA:1106 |
Frontofacionasal Dysplasia |
|
Cranium bifidum occultum, Microphthalmia |
OMIM:229400 |
Phace Syndrome |
|
Microphthalmia, Lens coloboma, Optic nerve hypoplasia |
ORPHA:42775 |
Hydrolethalus Syndrome 1 |
|
Microphthalmia, Anencephaly, Polyhydramnios, Intrauterine growth retardation |
OMIM:236680 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Microphthalmia |
OMIM:609945 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Microphthalmia |
OMIM:601552 |
Focal Dermal Hypoplasia |
|
Anophthalmia, Myelomeningocele, Telangiectasia, Umbilical hernia, Aniridia, Microphthalmia, Spina... |
OMIM:305600 |
Monosomy 9P |
|
Microphthalmia |
ORPHA:261112 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Phthisis bulbi |
OMIM:259770 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Cerebral hemorrhage, Retinal hemorrhage, Hypoplasia of the iris, Ischemic stroke, Microphthalmia,... |
OMIM:175780 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cranium bifidum occultum, Microphthalmia |
ORPHA:306542 |
Witteveen-Kolk Syndrome |
|
Branchial fistula, Polyhydramnios, Intracranial hemorrhage, Microphthalmia, Intrauterine growth r... |
OMIM:613406 |
8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Branchial cyst, Optic nerve hypoplasia, Bilateral microphthalmos, In... |
ORPHA:508488 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Buphthalmos, Microphthalmia, Hypoplasia of the retina |
OMIM:253280 |
Chromosome 13Q14 Deletion Syndrome |
|
Microphthalmia, Umbilical hernia |
OMIM:613884 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia |
ORPHA:3186 |
Sotos Syndrome |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Focal impaired ... |
ORPHA:821 |
Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia |
OMIM:603457 |
Proboscis Lateralis |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
ORPHA:141099 |
Fraser Syndrome |
|
Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia, Microphthalmia |
ORPHA:2052 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Intrauterine growth retardation, Bilateral microphthalmos |
ORPHA:93325 |
Charge Syndrome |
|
Anophthalmia, Polyhydramnios, Unilateral microphthalmos, Umbilical hernia, Pulmonic stenosis, Mic... |
OMIM:214800 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microphthalmia |
OMIM:616734 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Microphthalmia, Lens coloboma, Umbilical hernia |
OMIM:619539 |
Pallister-Hall Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Umbilical hernia, Oligohydramnios |
ORPHA:672 |
Renpenning Syndrome 1 |
|
Microphthalmia |
OMIM:309500 |
Tetraamelia Syndrome 1 |
|
Microphthalmia |
OMIM:273395 |
Fraser Syndrome 1 |
|
Encephalocele, Myelomeningocele, Anophthalmia, Bilateral microphthalmos |
OMIM:219000 |
Kabuki Syndrome 1 |
|
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset |
OMIM:147920 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Optic atrophy, Retinal degeneration |
ORPHA:442835 |
Branchiooculofacial Syndrome |
|
Microphthalmia, Branchial anomaly, Anophthalmia, Intrauterine growth retardation |
OMIM:113620 |
Lowe Oculocerebrorenal Syndrome |
|
Microphthalmia |
OMIM:309000 |
Roberts-Sc Phocomelia Syndrome |
|
Microphthalmia, Frontal encephalocele, Severe intrauterine growth retardation, Polyhydramnios |
OMIM:268300 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:649 |
Mowat-Wilson Syndrome |
|
Microphthalmia, Pulmonic stenosis |
OMIM:235730 |
Holoprosencephaly 1 |
|
Microphthalmia |
OMIM:236100 |
Microphthalmia, Syndromic 6 |
|
Microphthalmia, Anophthalmia |
OMIM:607932 |
Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos |
OMIM:154500 |
Holoprosencephaly 2 |
|
Microphthalmia |
OMIM:157170 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Microphthalmia, Aortic valve stenosis, Hyphema, Pulmonic stenosis |
ORPHA:261552 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Microphthalmia, Aortic valve stenosis, Pulmonic stenosis |
ORPHA:261537 |
Mowat-Wilson Syndrome |
|
Microphthalmia, Aortic valve stenosis, Pulmonic stenosis |
ORPHA:2152 |
Townes-Brocks Syndrome |
|
Microphthalmia |
ORPHA:857 |
Craniofacial Microsomia 1 |
|
Microphthalmia, Occipital encephalocele, Anophthalmia, Branchial anomaly |
OMIM:164210 |
Microphthalmia, Syndromic 1 |
|
Microphthalmia, Anophthalmia |
OMIM:309800 |