Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response |
OMIM:617028 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear/anxiety-related behavior, Cognitive impairment, Anxiety, Chorea, Exaggerated startl... |
ORPHA:309246 |
Stiff Person Spectrum Disorder |
|
Emotional lability, Agoraphobia, Falls, Difficulty walking, Anxiety, Exaggerated startle response |
ORPHA:3198 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response, Irritability, Ataxia, Failure to thrive |
OMIM:616881 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Inability to walk, Irritability, Failure to thrive, Chorea, Exaggerated startle response |
OMIM:617864 |
Gm2-Gangliosidosis, Ab Variant |
|
Apathy, Dementia, Chorea, Exaggerated startle response, Dystonia |
OMIM:272750 |
Tay-Sachs Disease |
|
Psychomotor deterioration, Exaggerated startle response, Dementia, Apathy |
OMIM:272800 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Impaired vibration sensation in the lower limbs, Difficulty walking |
ORPHA:320406 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Emotional lability, Limb dystonia, Torticollis, Blepharospasm, Limb tremor, Oculogyric crisis, Ir... |
OMIM:608643 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Failure to thrive |
OMIM:618201 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ataxia |
OMIM:618598 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Ataxia, Broad-based gait, Anxiety, Exaggerated startle response, Dystonia |
ORPHA:438216 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Tremor, Gait ataxia, Exaggerated startle response, Dysmetria |
OMIM:618056 |
Stiff-Person Syndrome |
|
Agoraphobia, Anxiety, Opisthotonus, Exaggerated startle response |
OMIM:184850 |
Sandhoff Disease |
|
Ataxia, Exaggerated startle response, Impotence, Progressive psychomotor deterioration, Impaired ... |
OMIM:268800 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Inability to walk |
OMIM:609541 |
Tay-Sachs Disease |
|
Gait disturbance, Inability to walk, Anxiety, Memory impairment, Tremor, Exaggerated startle resp... |
ORPHA:845 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Inability to walk |
OMIM:620114 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Failure to thrive |
OMIM:615574 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Anxiety |
OMIM:617281 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Cognitive impairment, Exaggerated startle response, Failure to thrive |
OMIM:617527 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Dystonia, Failure to thrive |
ORPHA:521426 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response, Irritability |
OMIM:618367 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Dystonia |
ORPHA:79255 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response |
OMIM:253800 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Dystonia, Inability to walk, Broad-based gait |
ORPHA:438213 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Chordee, Exaggerated startle response |
OMIM:619522 |