Intellectual Developmental Disorder, Autosomal Recessive 54 |
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Delayed speech and language development, Exaggerated startle response |
OMIM:617028 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Exaggerated startle response, Absent speech |
OMIM:618598 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
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Exaggerated startle response, Absent speech |
OMIM:620114 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
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Exaggerated startle response, Delayed speech and language development, Absent speech, Truncal tit... |
OMIM:618056 |
Leukodystrophy, Hypomyelinating, 13 |
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Exaggerated startle response, Absent speech |
OMIM:616881 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
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Exaggerated startle response, Absent speech |
OMIM:617864 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathetosis, Oculogy... |
OMIM:608643 |
Hyperekplexia-Epilepsy Syndrome |
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Exaggerated startle response |
ORPHA:163985 |
Tay-Sachs Disease |
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Exaggerated startle response, Absent speech, Tremor, Laryngeal dystonia, Speech articulation diff... |
ORPHA:845 |
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 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response |
OMIM:618367 |
Hyperekplexia 2 |
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Exaggerated startle response |
OMIM:614619 |
Gm2 Gangliosidosis, Ab Variant |
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Exaggerated startle response, Dystonia |
ORPHA:309246 |
Hyperekplexia 3 |
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Exaggerated startle response |
OMIM:614618 |
Plaa-Associated Neurodevelopmental Disorder |
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Delayed speech and language development, Exaggerated startle response, Dystonia |
ORPHA:521426 |
Stiff Person Spectrum Disorder |
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Exaggerated startle response |
ORPHA:3198 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Exaggerated startle response |
OMIM:609541 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Exaggerated startle response |
ORPHA:320406 |
Stiff-Person Syndrome |
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Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
Tay-Sachs Disease |
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Exaggerated startle response |
OMIM:272800 |
Gm2-Gangliosidosis, Ab Variant |
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Exaggerated startle response, Dystonia |
OMIM:272750 |
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 |
Asparagine Synthetase Deficiency |
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Exaggerated startle response |
OMIM:615574 |
Trichotillomania |
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Hair-pulling |
OMIM:613229 |
Glycine Encephalopathy With Normal Serum Glycine |
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Exaggerated startle response |
OMIM:617301 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
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Hair-pulling, Absent speech |
OMIM:616393 |
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 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Exaggerated startle response |
OMIM:617527 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
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Delayed speech and language development, Hair-pulling |
ORPHA:447997 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Exaggerated startle response, Dystonia, Receptive language delay, Absent speech |
ORPHA:438213 |
Monosomy 22Q13.3 |
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Delayed speech and language development, Hair-pulling |
ORPHA:48652 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Delayed speech and language development, Exaggerated startle response |
OMIM:619522 |
Choreoacanthocytosis |
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Blepharospasm, Hair-pulling, Resting tremor, Lingual dystonia, Limb dystonia, Head titubation, Or... |
ORPHA:2388 |
Robinow Syndrome, Autosomal Dominant 2 |
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OMIM:616331 |
Autosomal Dominant Robinow Syndrome |
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ORPHA:3107 |