Diaminopentanuria |
|
Neurodegeneration, Ataxia |
OMIM:222350 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Ataxia, Neurodegeneration, Cerebral atrophy |
OMIM:610951 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Joubert Syndrome 13 |
|
Molar tooth sign on MRI |
OMIM:614173 |
Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:616781 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Diffuse cerebral atrophy, Motor neuron atrophy, Frontotemporal cerebral atrophy, Bradykinesia, Fa... |
ORPHA:412066 |
Joubert Syndrome 31 |
|
Molar tooth sign on MRI, Truncal ataxia |
OMIM:617761 |
Joubert Syndrome 4 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Ataxia, Thickened superior cereb... |
OMIM:609583 |
Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:617562 |
Joubert Syndrome 33 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:617767 |
Joubert Syndrome 27 |
|
Molar tooth sign on MRI, Ataxia, Gait ataxia |
OMIM:617120 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, T... |
OMIM:300607 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response, Focal impaired awareness seizure, Generalized tonic seizure |
ORPHA:163985 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... |
OMIM:168000 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... |
OMIM:605373 |
Adult Krabbe Disease |
|
Broad-based gait, Somatic sensory dysfunction, Ataxia, Abnormal medulla oblongata morphology, Abn... |
ORPHA:206448 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Status epilepticus, Myoclonus |
OMIM:618201 |
Hyperekplexia 1 |
|
Seizure, Exaggerated startle response, Myoclonus, Nocturnal seizures |
OMIM:149400 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclonus |
ORPHA:309155 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Diabetes mellitus, Hypothyroidism |
ORPHA:3198 |
Hyperekplexia 3 |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:614618 |
Joubert Syndrome 17 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:614615 |
Joubert Syndrome 6 |
|
Ataxia, Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated superior cerebellar pedun... |
OMIM:610688 |
Pure Autonomic Failure |
|
Abnormality of circulating catecholamine level |
ORPHA:441 |
Gm2 Gangliosidosis, Ab Variant |
|
Seizure, Exaggerated startle response, Dystonia |
ORPHA:309246 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Diabetes mellitus, Myoclonic spasms, Opisthotonus |
OMIM:184850 |
Septopreoptic Holoprosencephaly |
|
Hypoplasia of the pons, Abnormal midbrain morphology |
ORPHA:280195 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Seizure, Focal impaired awareness seizure |
OMIM:618056 |
Gm2-Gangliosidosis, Ab Variant |
|
Seizure, Exaggerated startle response, Dystonia, Myoclonic seizure |
OMIM:272750 |
Hyperekplexia 2 |
|
Exaggerated startle response, Myoclonus |
OMIM:614619 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoc... |
OMIM:617281 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Seizure, Exaggerated startle response |
OMIM:620114 |
Trichotillomania |
|
Hair-pulling |
OMIM:613229 |
Tay-Sachs Disease |
|
Seizure, Exaggerated startle response |
OMIM:272800 |
Slc35A2-Cdg |
|
Cerebellar atrophy, Abnormal midbrain morphology, Inability to walk, Cerebral atrophy, Atrophy/De... |
ORPHA:356961 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Seizure, Exaggerated startle response, Status epilepticus |
OMIM:617864 |
Tay-Sachs Disease |
|
Exaggerated startle response, Precocious puberty, Tremor, Typical absence seizure, Seizure, Focal... |
ORPHA:845 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response, Myoclonic seizure |
OMIM:620327 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Seizure, Exaggerated startle response, Dystonia |
ORPHA:438216 |
Sandhoff Disease |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:268800 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Seizure, Exaggerated startle response, Generalized-onset seizure, Congenital hypothyroidism |
OMIM:617527 |
Asparagine Synthetase Deficiency |
|
Tremor, Clonic seizure, Exaggerated startle response, Seizure |
OMIM:615574 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response |
OMIM:616881 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Plaa-Associated Neurodevelopmental Disorder |
|
Seizure, Exaggerated startle response, Dystonia |
ORPHA:521426 |
Gm1 Gangliosidosis Type 1 |
|
Seizure, Exaggerated startle response, Dystonia |
ORPHA:79255 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response, Tonic seizure, Seizure, Atonic seizure, Focal emotional seizure wit... |
OMIM:618367 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Hair-pulling, Infantile spasms, Generalized tonic seizure |
OMIM:616393 |
Japanese Encephalitis |
|
Abnormal substantia nigra morphology, Abnormal midbrain morphology, Paucity of anterior horn moto... |
ORPHA:79139 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Seizure, Exaggerated startle response |
OMIM:253800 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hair-pulling, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic spasms |
ORPHA:447997 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain morphology, Abnormal brainstem M... |
ORPHA:68 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Choreoacanthocytosis |
|
Resting tremor, Bilateral tonic-clonic seizure, Head titubation, Hair-pulling, Blepharospasm, Sei... |
ORPHA:2388 |
Von Hippel-Lindau Disease |
|
Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom... |
ORPHA:892 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Hair-pulling, Generalized non-motor (absence) seizure, Myoclonic ... |
OMIM:620330 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Epileptic spasm, Exaggerated startle response, Abnormality of the endocrine system, Precocious pu... |
ORPHA:438213 |
Cerebellar-Facial-Dental Syndrome |
|
Hypoplasia of the pons, Hypoplasia of the brainstem, Abnormal midbrain morphology |
ORPHA:444072 |
Monosomy 22Q13.3 |
|
Hair-pulling, Seizure |
ORPHA:48652 |
Duplication Of The Pituitary Gland |
|
Abnormal midbrain morphology |
ORPHA:314621 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Seizure, Exaggerated startle response |
OMIM:619522 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Abnormal midbrain morphology, Impaired pain sensation |
ORPHA:293987 |