Intellectual Developmental Disorder, Autosomal Recessive 54 |
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Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Pandas |
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Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Resting tremor, Hyperactivity, Focal EEG discharges with secondary generalization, Anorexia, Aggr... |
ORPHA:3077 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
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Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
Hyperekplexia-Epilepsy Syndrome |
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EEG with temporal focal spikes, Exaggerated startle response |
ORPHA:163985 |
Gm2 Gangliosidosis, Ab Variant |
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Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia |
ORPHA:309246 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... |
OMIM:608643 |
Stiff Person Spectrum Disorder |
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Emotional lability, Exaggerated startle response |
ORPHA:3198 |
Leukodystrophy, Hypomyelinating, 13 |
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Prolonged brainstem auditory evoked potentials, Irritability, Exaggerated startle response |
OMIM:616881 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
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Irritability, Exaggerated startle response, EEG with generalized slow activity |
OMIM:617864 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
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Exaggerated startle response, Depression |
OMIM:620114 |
Stiff-Person Syndrome |
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Exaggerated startle response, Opisthotonus, Depression |
OMIM:184850 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
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Tremor, Exaggerated startle response, Agitation, Truncal titubation |
OMIM:618056 |
Developmental And Epileptic Encephalopathy 68 |
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Exaggerated startle response |
OMIM:618201 |
Developmental And Epileptic Encephalopathy 8 |
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Exaggerated startle response |
OMIM:300607 |
Porphyria Due To Ala Dehydratase Deficiency |
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Abnormal fear-induced behavior, Agitation, Restlessness, Depression |
ORPHA:100924 |
Hyperekplexia 2 |
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Exaggerated startle response |
OMIM:614619 |
Developmental And Epileptic Encephalopathy 49 |
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EEG abnormality, Hyperactivity, Exaggerated startle response |
OMIM:617281 |
Hyperekplexia 3 |
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Exaggerated startle response |
OMIM:614618 |
Asparagine Synthetase Deficiency |
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Exaggerated startle response, Tremor, EEG with burst suppression, Hypsarrhythmia, Irritability |
OMIM:615574 |
Tay-Sachs Disease |
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Exaggerated startle response, Dystonia, Tremor, Depression, Dysphagia, Mania, Laryngeal dystonia |
ORPHA:845 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Exaggerated startle response |
OMIM:609541 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Exaggerated startle response |
OMIM:618598 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Exaggerated startle response |
ORPHA:320406 |
Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
Plaa-Associated Neurodevelopmental Disorder |
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Impaired oropharyngeal swallow response, Exaggerated startle response, Hypsarrhythmia, Dystonia |
ORPHA:521426 |
Tay-Sachs Disease |
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Exaggerated startle response |
OMIM:272800 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
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Tremor, Exaggerated startle response |
OMIM:620327 |
Gm2-Gangliosidosis, Ab Variant |
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Exaggerated startle response, Dystonia |
OMIM:272750 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Irritability, Exaggerated startle response, EEG with generalized slow activity, Dysphagia |
OMIM:618367 |
Glycine Encephalopathy With Normal Serum Glycine |
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Exaggerated startle response, Dysphagia |
OMIM:617301 |
Huntington Disease |
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Dystonia, Oral-pharyngeal dysphagia, Aggressive behavior, Depression, Irritability, Addictive alc... |
ORPHA:399 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Exaggerated startle response |
OMIM:608800 |
Sandhoff Disease, Infantile Form |
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Exaggerated startle response |
ORPHA:309155 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Exaggerated startle response, Dystonia |
ORPHA:438216 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Exaggerated startle response, Dysphagia |
OMIM:617527 |
Sandhoff Disease |
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Exaggerated startle response |
OMIM:268800 |
Gm1 Gangliosidosis Type 1 |
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Exaggerated startle response, Dystonia |
ORPHA:79255 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Exaggerated startle response |
OMIM:253800 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353281 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353277 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Exaggerated startle response, Dystonia, Stereotypical hand wringing, Dysphagia |
ORPHA:438213 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Exaggerated startle response, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis... |
OMIM:619522 |