Auditory Neuropathy, Autosomal Dominant 1 |
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Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Deafness, Autosomal Recessive 9 |
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Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
Deafness, Autosomal Recessive 104 |
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Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... |
OMIM:616515 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
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Exaggerated startle response |
OMIM:617028 |
Edema, Familial Idiopathic, Prepubertal |
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Irritability, Diabetes mellitus |
OMIM:129840 |
Corticosterone Methyloxidase Type Ii Deficiency |
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Decreased circulating aldosterone level, Increased circulating 18-hydroxycortisone level, Increas... |
OMIM:610600 |
Pandas |
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Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Charcot-Marie-Tooth Disease, Type 4B1 |
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Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Late-Onset Familial Hypoaldosteronism |
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Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r... |
ORPHA:556037 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
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Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior, Hearing impairment |
ORPHA:208441 |
Glucocorticoid Deficiency 5 |
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Decreased circulating cortisol level, Abnormal response to ACTH stimulation test |
OMIM:617825 |
Early-Onset Familial Hypoaldosteronism |
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Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r... |
ORPHA:556030 |
Ravine Syndrome |
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Abnormal auditory evoked potentials, Anorexia |
ORPHA:99852 |
Optic Atrophy 8 |
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Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
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Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Periodic Fever, Menstrual Cycle-Dependent |
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Increased circulating cortisol level |
OMIM:614674 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
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Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Decreased serum testosterone concentration, Decreased circulating cortisol level, Precocious pube... |
ORPHA:90793 |
Adrenocortical Carcinoma |
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Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
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Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
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Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, EEG abnormal... |
OMIM:617519 |
Autosomal Recessive Spastic Paraplegia Type 44 |
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Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
Glucocorticoid Deficiency 2 |
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Decreased circulating cortisol level, Increased circulating ACTH level |
OMIM:607398 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Hyperactivity, Focal EEG discharges with secondary generalization, Anorexia, Aggressive behavior,... |
ORPHA:3077 |
Hyperekplexia-Epilepsy Syndrome |
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Exaggerated startle response |
ORPHA:163985 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
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Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Mohr-Tranebjaerg Syndrome |
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Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... |
ORPHA:52368 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
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Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Abcd Syndrome |
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Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... |
OMIM:600501 |
Late-Infantile/Juvenile Krabbe Disease |
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Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Neuromuscula... |
ORPHA:206443 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
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Increased urinary cortisol level, Decreased circulating ACTH concentration, Depression, Increased... |
OMIM:615954 |
Charcot-Marie-Tooth Disease, Type 4C |
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Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
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Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Absence of second... |
ORPHA:90796 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
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Diabetes mellitus, Adrenal hyperplasia, Depression, Increased circulating cortisol level, Primary... |
OMIM:615830 |
Leukodystrophy, Hypomyelinating, 13 |
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Prolonged brainstem auditory evoked potentials, Optic atrophy, Irritability |
OMIM:616881 |
Charcot-Marie-Tooth Disease, Type 4D |
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Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph... |
ORPHA:95699 |
Acth-Independent Macronodular Adrenal Hyperplasia |
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Adrenal hyperplasia, Decreased circulating ACTH concentration, Depression, Increased circulating ... |
OMIM:219080 |
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 |
Hyperekplexia 2 |
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Exaggerated startle response |
OMIM:614619 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
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Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
Glucocorticoid Resistance, Generalized |
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Increased circulating cortisol level, Increased circulating androstenedione concentration, Increa... |
OMIM:615962 |
Hyperekplexia 3 |
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Exaggerated startle response |
OMIM:614618 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
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Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Stiff Person Spectrum Disorder |
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Exaggerated startle response |
ORPHA:3198 |
Porphyria Due To Ala Dehydratase Deficiency |
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Restlessness, Abnormal fear-induced behavior, Depression, Agitation, Hearing impairment |
ORPHA:100924 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
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Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Apparent Mineralocorticoid Excess |
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Decreased circulating aldosterone level, Abnormality of circulating cortisol level, Decreased cir... |
ORPHA:320 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Gm2 Gangliosidosis, Ab Variant |
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Exaggerated startle response, Dystonia |
ORPHA:309246 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
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Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:619260 |
Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
Tay-Sachs Disease |
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Exaggerated startle response |
OMIM:272800 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Exaggerated startle response |
OMIM:609541 |
Infantile Krabbe Disease |
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Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... |
ORPHA:206436 |
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 |
Charcot-Marie-Tooth Disease Type 1F |
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Absent brainstem auditory responses, Restless legs, Optic nerve hypoplasia, Decreased nerve condu... |
ORPHA:101085 |
Stiff-Person Syndrome |
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Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
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Exaggerated startle response |
OMIM:620114 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
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Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
Chronic Bilirubin Encephalopathy |
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Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
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Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Gm2-Gangliosidosis, Ab Variant |
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Exaggerated startle response, Dystonia |
OMIM:272750 |
Arthrogryposis, Distal, Type 2A |
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Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
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 |
Cerebrotendinous Xanthomatosis |
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Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... |
ORPHA:909 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
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Tremor, Exaggerated startle response |
OMIM:620327 |
Trisomy 10P |
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Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... |
ORPHA:171929 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
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Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Adult Krabbe Disease |
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Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Exaggerated startle response, Dystonia |
ORPHA:438216 |
Cushing Disease |
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Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
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Exaggerated startle response |
OMIM:617864 |
Cockayne Syndrome Type 1 |
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Absent brainstem auditory responses, Optic atrophy, Macrotia, Abnormality of peripheral nerve con... |
ORPHA:90321 |
Mend Syndrome |
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Abnormal auditory evoked potentials, Hyperactivity, Low-set ears, Aggressive behavior |
ORPHA:401973 |
Glycine Encephalopathy With Normal Serum Glycine |
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Exaggerated startle response |
OMIM:617301 |
Mogs-Cdg |
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Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy |
ORPHA:79330 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:99889 |
Sandhoff Disease |
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Exaggerated startle response |
OMIM:268800 |
Tay-Sachs Disease |
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Tremor, Exaggerated startle response, Laryngeal dystonia, Dystonia |
ORPHA:845 |
Developmental And Epileptic Encephalopathy 49 |
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Exaggerated startle response |
OMIM:617281 |
Plaa-Associated Neurodevelopmental Disorder |
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Exaggerated startle response, Dystonia |
ORPHA:521426 |
Gm1 Gangliosidosis Type 1 |
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Exaggerated startle response, Dystonia |
ORPHA:79255 |
Cockayne Syndrome B |
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Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:133540 |
Asparagine Synthetase Deficiency |
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Tremor, Exaggerated startle response |
OMIM:615574 |
Cockayne Syndrome A |
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Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:216400 |
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 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... |
ORPHA:353281 |
African Trypanosomiasis |
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Abnormality of the endocrine system, Abnormality of renin-angiotensin system, Abnormal prolactin ... |
ORPHA:3385 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... |
ORPHA:353277 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response |
OMIM:618367 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Exaggerated startle response, Dystonia |
ORPHA:438213 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Exaggerated startle response |
OMIM:619522 |