Intellectual Developmental Disorder, Autosomal Recessive 54 |
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Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Progressive Supranuclear Palsy |
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Dystonia, Tremor, Unsteady gait, Abnormal synaptic transmission, Bradykinesia, Blepharospasm, Dep... |
ORPHA:683 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Torticollis, Exaggerated startle response, Oculogyric crisis, Diarrhea, Limb tremor, Emotional la... |
OMIM:608643 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
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Exaggerated startle response, Inability to walk, Depression, Gastroesophageal reflux, Hearing imp... |
OMIM:620114 |
Stiff Person Spectrum Disorder |
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Emotional lability, Exaggerated startle response, Falls, Difficulty walking |
ORPHA:3198 |
Leukodystrophy, Hypomyelinating, 13 |
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Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Ataxia, Irritabilit... |
OMIM:616881 |
Gm2 Gangliosidosis, Ab Variant |
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Abnormal fear-induced behavior, Exaggerated startle response, Cognitive impairment, Dystonia |
ORPHA:309246 |
Tay-Sachs Disease |
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Psychomotor deterioration, Exaggerated startle response, Dementia |
OMIM:272800 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
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Short attention span, Exaggerated startle response, Inability to walk, Irritability, Macrotia |
OMIM:617864 |
Tay-Sachs Disease |
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Short attention span, Exaggerated startle response, Dystonia, Tremor, Inability to walk, Dysmetri... |
ORPHA:845 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Short attention span, Broad-based gait, Exaggerated startle response, Ataxia, External ear malfor... |
ORPHA:438216 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Posteriorly rotated ears, Exaggerated startle response, Ataxia, Low-set ears |
OMIM:618598 |
Sandhoff Disease |
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Progressive psychomotor deterioration, Exaggerated startle response, Chronic diarrhea, Ataxia |
OMIM:268800 |
Gm2-Gangliosidosis, Ab Variant |
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Exaggerated startle response, Dementia, Dystonia |
OMIM:272750 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
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Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia |
OMIM:618056 |
Stiff-Person Syndrome |
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Depression, Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Inability to walk, Exaggerated startle response |
OMIM:609541 |
Hyperekplexia 2 |
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Exaggerated startle response, Gastroesophageal reflux |
OMIM:614619 |
Hyperekplexia 3 |
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Exaggerated startle response, Gastroesophageal reflux |
OMIM:614618 |
Choreoacanthocytosis |
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Bradyphrenia, Short attention span, Limb dystonia, Resting tremor, Head titubation, Hair-pulling,... |
ORPHA:2388 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Exaggerated startle response, Difficulty walking |
ORPHA:320406 |
Hyperekplexia-Epilepsy Syndrome |
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Exaggerated startle response |
ORPHA:163985 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
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Tremor, Exaggerated startle response, Hearing impairment |
OMIM:620327 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Exaggerated startle response, Posteriorly rotated ears, Dysphagia, Low-set ears, Cognitive impair... |
OMIM:617527 |
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 |
Trichotillomania |
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Hair-pulling |
OMIM:613229 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Exaggerated startle response, Gastroesophageal reflux |
OMIM:608800 |
Asparagine Synthetase Deficiency |
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Exaggerated startle response, Tremor, Irritability, Gastroesophageal reflux, Macrotia, Simple ear |
OMIM:615574 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
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Hair-pulling, Protruding ear, Irritability, Gastroesophageal reflux, Low-set ears, Dysphagia |
ORPHA:447997 |
Glycine Encephalopathy With Normal Serum Glycine |
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Exaggerated startle response, Low-set ears, Dysphagia |
OMIM:617301 |
Plaa-Associated Neurodevelopmental Disorder |
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Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment... |
ORPHA:521426 |
Gm1 Gangliosidosis Type 1 |
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Exaggerated startle response, Low-set ears, Dystonia, Macrotia, Hearing impairment |
ORPHA:79255 |
Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
Sandhoff Disease, Infantile Form |
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Exaggerated startle response |
ORPHA:309155 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
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Hair-pulling, Ataxia, Low-set ears |
OMIM:616393 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Broad-based gait, Posteriorly rotated ears, Hair-pulling, Protruding ear, Constipation, Attention... |
OMIM:620330 |
Developmental And Epileptic Encephalopathy 49 |
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Exaggerated startle response, Macrotia |
OMIM:617281 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Exaggerated startle response |
OMIM:253800 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Irritability, Exaggerated startle response, Dysphagia |
OMIM:618367 |
Monosomy 22Q13.3 |
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Hair-pulling, Macrotia, Gastroesophageal reflux, Hearing impairment |
ORPHA:48652 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Broad-based gait, Exaggerated startle response, Dystonia, Inability to walk, Constipation, Gastro... |
ORPHA:438213 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Exaggerated startle response, Posteriorly rotated ears, Microtia, Attention deficit hyperactivity... |
OMIM:619522 |