Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
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Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Limb dystonia, Hypertrophic cardiomy... |
OMIM:620270 |
Attention Deficit-Hyperactivity Disorder |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
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Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior |
ORPHA:356996 |
Stxbp1-Related Encephalopathy |
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Hyperactivity, Ataxia, EEG with abnormally slow frequencies, Tremor, Inability to walk, Multifoca... |
ORPHA:599373 |
Ravine Syndrome |
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Ataxia, Abnormal auditory evoked potentials, Anorexia, Decreased body weight, Failure to thrive |
ORPHA:99852 |
Auditory Neuropathy, Autosomal Dominant 1 |
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Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
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EEG abnormality, Hyperactivity, Low-set ears |
ORPHA:436151 |
Deafness, Autosomal Recessive 9 |
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Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Deafness, Autosomal Recessive 104 |
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Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Optic Atrophy 8 |
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Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... |
OMIM:616648 |
Fraxe Intellectual Disability |
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Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... |
ORPHA:100973 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
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Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... |
OMIM:617519 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
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Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity disorder, Patent... |
OMIM:617182 |
Charcot-Marie-Tooth Disease, Type 4B1 |
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Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Mohr-Tranebjaerg Syndrome |
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Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Inability to walk, S... |
ORPHA:52368 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
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Hyperactivity, Broad-based gait, Aggressive behavior, Tremor, Optic atrophy, Elbow flexion contra... |
OMIM:619470 |
Developmental And Epileptic Encephalopathy 104 |
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Self-injurious behavior, Hyperactivity, Agitation, Hypsarrhythmia |
OMIM:619970 |
Smith-Magenis syndrome |
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Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Intellectual Developmental Disorder, X-Linked 109 |
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Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Resting tremor, Hyperactivity, Broad-based gait, Focal EEG discharges with secondary generalizati... |
ORPHA:3077 |
Developmental And Epileptic Encephalopathy 43 |
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Hyperactivity, Ataxia, Impulsivity, Hypsarrhythmia, Attention deficit hyperactivity disorder |
OMIM:617113 |
Hyperprolinemia, Type I |
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Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Abnormal repetitive mannerisms |
OMIM:239500 |
8p23.1 deletion syndrome |
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Hyperactivity, Congenital diaphragmatic hernia, Abnormal heart morphology, Atrial septal defect, ... |
DECIPHER:39 |
Intellectual Developmental Disorder, X-Linked 111 |
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Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors, Dystonia |
OMIM:301107 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
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Continuous spike and waves during slow sleep, Hyperactivity, Impulsivity, Attention deficit hyper... |
OMIM:301008 |
Autosomal Recessive Spastic Paraplegia Type 44 |
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Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Difficulty walking... |
ORPHA:320401 |
Chromosome 3Q29 Deletion Syndrome |
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Hyperactivity, Small for gestational age, Posteriorly rotated ears, Aggressive behavior, Macrotia... |
OMIM:609425 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
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Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... |
OMIM:125250 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
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Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, EEG abnormality, Low-set ears,... |
OMIM:618718 |
Landau-Kleffner Syndrome |
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Interictal EEG abnormality, Hyperactivity, EEG with frontal focal spikes, Impulsivity, Aggressive... |
ORPHA:98818 |
Lennox-Gastaut Syndrome |
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Hyperactivity, Aggressive behavior, EEG abnormality, Falls, EEG with focal sharp slow waves |
ORPHA:2382 |
Late-Infantile/Juvenile Krabbe Disease |
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Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, Trem... |
ORPHA:206443 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
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Hyperactivity, Tremor, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Cln5 Disease |
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Hyperactivity, Ataxia, EEG with spike-wave complexes, Aggressive behavior, Tremor, Inability to w... |
ORPHA:228360 |
Aminoacylase 1 Deficiency |
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Hyperactivity, Bradycardia, Sensorineural hearing impairment |
OMIM:609924 |
Charcot-Marie-Tooth Disease, Type 4D |
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Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se... |
OMIM:601455 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
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Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Car... |
ORPHA:1215 |
Guanidinoacetate Methyltransferase Deficiency |
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Hyperactivity, Ataxia, Aggressive behavior, Athetosis, Self-injurious behavior, Dystonia |
ORPHA:382 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
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Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia |
OMIM:612716 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Orthostatic hypotension, Ataxia, Abnormal auditory evoked potentials, Abnormality of somatosensor... |
ORPHA:99027 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
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Hyperactivity, Dystonia, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, EEG ab... |
ORPHA:500180 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
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Hyperactivity, Inguinal hernia, Impulsivity, Aggressive behavior, Contracture of the proximal int... |
OMIM:620141 |
Leukodystrophy, Hypomyelinating, 13 |
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Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Ataxia, Optic atrop... |
OMIM:616881 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
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Nail-biting, Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Se... |
OMIM:619827 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
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Hyperactivity, EEG with burst suppression, Hypsarrhythmia, Pulmonic stenosis, Atrial septal defec... |
OMIM:619239 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
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Reduced subcutaneous adipose tissue, Hyperactivity, Ataxia, Reduced intraabdominal adipose tissue... |
ORPHA:363400 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
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Hyperactivity, Broad-based gait, Ataxia, Obesity, EEG abnormality, Inappropriate laughter, Polyph... |
ORPHA:411515 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
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Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Chromosome 2Q37 Deletion Syndrome |
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Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Obesity, Self-injurious beh... |
OMIM:600430 |
Charcot-Marie-Tooth Disease, Type 4C |
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Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Charcot-Marie-Tooth Disease Type 1F |
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Restless legs, Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve condu... |
ORPHA:101085 |
Mucopolysaccharidosis, Type Iiib |
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Hyperactivity, Aggressive behavior, Cardiomegaly, Asymmetric septal hypertrophy, Dense calvaria, ... |
OMIM:252920 |
Arthrogryposis, Distal, Type 2A |
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Hip contracture, Inguinal hernia, Flexion contracture of finger, Small for gestational age, Shoul... |
OMIM:193700 |
Mucopolysaccharidosis, Type Iiia |
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Hyperactivity, Inguinal hernia, Asymmetric septal hypertrophy, Umbilical hernia, Dense calvaria, ... |
OMIM:252900 |
Intellectual Developmental Disorder, X-Linked 107 |
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Hyperactivity, Aggressive behavior, Prominent crus of helix, Obesity, Attention deficit hyperacti... |
OMIM:301013 |
16P12.1P12.3 Triplication Syndrome |
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Nail-biting, Hyperactivity, Tachycardia, Abnormal heart morphology, Large earlobe, Abnormal tricu... |
ORPHA:485405 |
Optic Atrophy 11 |
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Hyperactivity, Decreased sensory nerve conduction velocity, Ataxia, Optic nerve hypoplasia, Gait ... |
OMIM:617302 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
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Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Osteopetrosis, Dystonia |
ORPHA:3240 |
Abcd Syndrome |
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Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... |
OMIM:600501 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
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Hyperactivity, Slender build, Heart murmur, Pulmonic stenosis, Attention deficit hyperactivity di... |
OMIM:617600 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
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Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, EEG with abnormally slow frequ... |
ORPHA:98794 |
Cerebrotendinous Xanthomatosis |
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Osteopenia, Optic disc pallor, Resting tremor, Ataxia, Abnormal auditory evoked potentials, Aggre... |
ORPHA:909 |
Cockayne Syndrome Type 1 |
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Absent brainstem auditory responses, Ataxia, Scarring, Foot joint contracture, Tremor, Macrotia, ... |
ORPHA:90321 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
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Hyperactivity, Ataxia, Aggressive behavior, EEG with generalized polyspikes, Obesity, EEG with ge... |
ORPHA:163681 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
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Optic disc pallor, Sensorineural hearing impairment, Ataxia, Abnormal auditory evoked potentials |
OMIM:619260 |
Cockayne Syndrome B |
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Reduced subcutaneous adipose tissue, Ataxia, Small for gestational age, Abnormal auditory evoked ... |
OMIM:133540 |
Mucopolysaccharidosis, Type Iiic |
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Hyperactivity, Asymmetric septal hypertrophy, Hernia, Dysphagia, Dense calvaria, Hearing impairment |
OMIM:252930 |
Infantile Krabbe Disease |
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Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve conduction velocity, Op... |
ORPHA:206436 |
Cockayne Syndrome A |
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Reduced subcutaneous adipose tissue, Hip contracture, Ataxia, Abnormal pinna morphology, Abnormal... |
OMIM:216400 |
Congenitally Corrected Transposition Of The Great Arteries |
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Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... |
OMIM:608643 |
Insulin-Like Growth Factor I Deficiency |
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Osteopenia, Hyperactivity, Sensorineural hearing impairment, Decreased body weight |
OMIM:608747 |
Gm2 Gangliosidosis, Ab Variant |
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Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia |
ORPHA:309246 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
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Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Optic disc pallor, Exaggerated startle response, Inability to walk, Flexion contracture, Optic at... |
OMIM:609541 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
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Hyperactivity, Aggressive behavior, Macrotia, Mitral valve prolapse, Self-injurious behavior, Hyp... |
ORPHA:449291 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
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Failure to thrive, Exaggerated startle response, Optic nerve hypoplasia, Inability to walk, Joint... |
OMIM:617864 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Optic disc pallor, Exaggerated startle response, Multiple joint contractures, Optic atrophy, Diff... |
ORPHA:320406 |
Hyperekplexia 3 |
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Exaggerated startle response, Syncope, Hiatus hernia |
OMIM:614618 |
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 |
Mend Syndrome |
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Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Abnormal heart morpholog... |
ORPHA:401973 |
X-Linked Creatine Transporter Deficiency |
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Hyperactivity, Ataxia, Aganglionic megacolon, Cachexia, Athetosis, Dystonia, Self-mutilation |
ORPHA:52503 |
Stiff-Person Syndrome |
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Hypertension, Tachycardia, Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Absent brainstem auditory responses, Torticollis, Ataxia, Aganglionic megacolon, Portal hypertens... |
OMIM:609136 |
Pitt-Hopkins-Like Syndrome 1 |
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Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Attention deficit hyperactivity diso... |
OMIM:610042 |
Adult Krabbe Disease |
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Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, EEG abnormality, Gait d... |
ORPHA:206448 |
Mucopolysaccharidosis Type 2 |
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Abnormal tricuspid valve morphology, Conductive hearing impairment, Abnormal repetitive mannerism... |
ORPHA:580 |
Brain-Lung-Thyroid Syndrome |
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Hyperactivity, Ventricular septal defect, Ataxia, Abnormal eating behavior, Sensorineural hearing... |
ORPHA:209905 |
Trisomy 10P |
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Small for gestational age, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG wit... |
ORPHA:171929 |
Hyperekplexia-Epilepsy Syndrome |
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EEG with temporal focal spikes, Exaggerated startle response |
ORPHA:163985 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
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Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation |
OMIM:618056 |
Mogs-Cdg |
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Absent brainstem auditory responses, Cardiomegaly, Sensorineural hearing impairment, Optic atroph... |
ORPHA:79330 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
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Exaggerated startle response, Limb joint contracture, Tremor, Atrial septal defect, Patent forame... |
OMIM:620327 |
Developmental And Epileptic Encephalopathy 68 |
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Exaggerated startle response, Failure to thrive, Flexion contracture |
OMIM:618201 |
Glycine Encephalopathy With Normal Serum Glycine |
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Hip contracture, Exaggerated startle response, Flexion contracture, Optic atrophy, Elbow flexion ... |
OMIM:617301 |
Developmental And Epileptic Encephalopathy 49 |
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Hyperactivity, Exaggerated startle response, Optic atrophy, EEG abnormality, Macrotia |
OMIM:617281 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Exaggerated startle response, Bradycardia |
OMIM:608800 |
Sandhoff Disease |
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Orthostatic hypotension, Ataxia, Exaggerated startle response, Cardiomegaly |
OMIM:268800 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
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Inability to walk, Exaggerated startle response, Hearing impairment |
OMIM:620114 |
Stiff Person Spectrum Disorder |
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Exaggerated startle response, Falls, Difficulty walking |
ORPHA:3198 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Posteriorly rotated ears, Exaggerated startle response, Ataxia, Low-set ears |
OMIM:618598 |
Plaa-Associated Neurodevelopmental Disorder |
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Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment... |
ORPHA:521426 |
Sandhoff Disease, Infantile Form |
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Mitral regurgitation, Exaggerated startle response, Mitral valve prolapse |
ORPHA:309155 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Exaggerated startle response, Dilated cardiomyopathy, Optic atrophy, Myocardial fibrosis, Flexion... |
OMIM:253800 |
Tay-Sachs Disease |
|
Exaggerated startle response, Dystonia, Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait... |
ORPHA:845 |
Early Infantile Epileptic Encephalopathy |
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Hyperactivity, Ventricular septal defect, EEG with spike-wave complexes, Tremor, EEG with burst s... |
ORPHA:1934 |
Gm1 Gangliosidosis Type 1 |
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Exaggerated startle response, Cardiomyopathy, Abnormal odontoid tissue morphology, Low-set ears, ... |
ORPHA:79255 |
Hyperthyroidism, Nonautoimmune |
|
Small for gestational age, Hyperactivity, Tachycardia |
OMIM:609152 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Broad-based gait, Exaggerated startle response, Ataxia, External ear malformation, Dystonia |
ORPHA:438216 |
Choreoacanthocytosis |
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Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Decreased amplitude ... |
ORPHA:2388 |
Chronic Bilirubin Encephalopathy |
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Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Legius Syndrome |
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Hyperactivity, Dystonia, Paroxysmal atrial tachycardia, Mitral valve prolapse, Multiple lipomas, ... |
ORPHA:137605 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Exaggerated startle response, Posteriorly rotated ears, Optic atrophy, Contractures of the large ... |
OMIM:617527 |
Hyperekplexia 2 |
|
Exaggerated startle response, Hiatus hernia |
OMIM:614619 |
Hyperekplexia 1 |
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Umbilical hernia, Inguinal hernia, Exaggerated startle response |
OMIM:149400 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Optic nerve hypoplasia, Tremor, EEG with burst suppression, Macroti... |
OMIM:615574 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Hyperactivity, Small for gestational age, Hand tremor, Weight loss, Agitation |
ORPHA:424 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Osteopenia, Optic disc pallor, Broad-based gait, Uterine prolapse, Bicuspid aortic valve, Ventric... |
ORPHA:438213 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Hyperactivity, Dystonia, Ataxia, Akinesia, Tremor, Optic atrophy, Phonic tics, Choreoathetosis, B... |
OMIM:234200 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Agitation, Hand tremor, Weight loss |
ORPHA:99819 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response, EEG with generalized slow activity, Dysphagia |
OMIM:618367 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Ventricular septal defect, Posteriorly rotated ears, Microtia, Atte... |
OMIM:619522 |