Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Impaired ability to form peer relationships, Increased serum serotonin, Tru... |
OMIM:608636 |
Autism |
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Restrictive behavior, Impaired ability to form peer relationships, EEG abnormality, Increased ser... |
OMIM:209850 |
Autism, Susceptibility To, 8 |
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Restrictive behavior, Impaired ability to form peer relationships, EEG abnormality, Increased ser... |
OMIM:607373 |
Autism, Susceptibility To, 20 |
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Attention deficit hyperactivity disorder, Impaired social interactions, Compulsive behaviors |
OMIM:618830 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
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Gait ataxia, Shyness, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:618221 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
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Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired temperature sen... |
DECIPHER:29 |
Dystonia 31 |
|
Generalized dystonia, Writer's cramp, Leg dystonia, Depression, Arm dystonia, Dysphagia, Abnormal... |
OMIM:619565 |
Autism, Susceptibility To, X-Linked 3 |
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Restrictive behavior, EEG abnormality, Increased serum serotonin, Abnormal repetitive mannerisms,... |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
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Restrictive behavior, EEG abnormality, Increased serum serotonin, Abnormal repetitive mannerisms,... |
OMIM:300425 |
Intellectual Developmental Disorder, Autosomal Recessive 64 |
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Impaired social interactions, Aggressive behavior |
OMIM:618103 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
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Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
Asperger Syndrome, Susceptibility To, 1 |
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Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
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Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608631 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
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Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Impaired proprioception, Lim... |
ORPHA:95434 |
Pandas |
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Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At... |
ORPHA:66624 |
Intellectual Developmental Disorder With Autism And Speech Delay |
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Abnormal repetitive mannerisms, Impaired social interactions |
OMIM:606053 |
Hereditary Geniospasm |
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Abnormal social behavior, Intention tremor |
ORPHA:53372 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
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Aggressive behavior, EEG abnormality, Agitation, Emotional lability, Abnormal repetitive mannerisms |
OMIM:617171 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
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Aggressive behavior, Euphoria, EEG abnormality, Lateral ventricle dilatation, Inappropriate behav... |
OMIM:221770 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
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Dystonia, Ataxia, Aggressive behavior, Chorea, Inappropriate laughter, Bruxism, Abnormal repetiti... |
OMIM:619150 |
Benign Paroxysmal Torticollis Of Infancy |
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Irritability, Torticollis, Ataxia, Abnormal head movements |
ORPHA:71518 |
Primary Lateral Sclerosis, Adult, 1 |
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Abnormal upper motor neuron morphology, Dysphagia |
OMIM:611637 |
Huntington Disease-Like 1 |
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Restlessness, Abnormal head movements, Chorea, Dysmetria, Depression, Gait ataxia, EEG abnormalit... |
ORPHA:157941 |
Pick Disease Of Brain |
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Abnormal repetitive mannerisms, Irritability, Disinhibition, Inappropriate laughter, Emotional bl... |
OMIM:172700 |
Autism, Susceptibility To, X-Linked 2 |
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Restrictive behavior, EEG abnormality, Increased serum serotonin, Abnormal repetitive mannerisms,... |
OMIM:300495 |
Boucher-Neuhauser Syndrome |
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Hypogonadotropic hypogonadism, Ataxia, Gait ataxia, Decreased circulating gonadotropin concentrat... |
OMIM:215470 |
Primary Dystonia, Dyt13 Type |
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Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L... |
ORPHA:98807 |
Hsd10 Disease |
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Ataxia, Tremor, Choreoathetosis, Dysphagia, Abnormal social behavior |
ORPHA:391417 |
Frontotemporal Dementia With Motor Neuron Disease |
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Abnormal lower motor neuron morphology, Depression, Progressive cerebellar ataxia, Disinhibition,... |
ORPHA:275872 |
Parkinsonism-Dystonia 3, Childhood-Onset |
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Dystonia, Ataxia, Aggressive behavior, Tremor, Chorea, Depression, Impaired social interactions, ... |
OMIM:619738 |
Juvenile Primary Lateral Sclerosis |
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Abnormal upper motor neuron morphology, Dysphagia |
ORPHA:247604 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
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Self-injurious behavior, Abnormal repetitive mannerisms, Impaired social interactions, Dystonia |
OMIM:617820 |
Guanidinoacetate Methyltransferase Deficiency |
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Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Self-injurious behav... |
ORPHA:382 |
Autosomal Dominant Spastic Ataxia Type 1 |
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Spastic ataxia, Dystonia, Tremor, Impaired vibration sensation in the lower limbs, Impaired propr... |
ORPHA:251282 |
Gm2 Gangliosidosis, Ab Variant |
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Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Dys... |
ORPHA:309246 |
Female Restricted Epilepsy With Intellectual Disability |
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Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... |
ORPHA:101039 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
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Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Impaired ability to form peer relationships, EEG abnormality, Increased ser... |
OMIM:608049 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
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Hyperinsulinemia, Polyphagia, Impaired social interactions, Aggressive behavior |
ORPHA:329249 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
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Self-injurious behavior, Impaired social interactions, Stereotypical hand wringing |
ORPHA:397933 |
Hereditary Liability to Pressure Palsies (HNPP) |
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Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
Primary Lateral Sclerosis, Juvenile |
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Abnormal upper motor neuron morphology, Pseudobulbar paralysis, Decreased compound muscle action ... |
OMIM:606353 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
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Kinetic tremor, Torticollis, Postural tremor, Impaired social interactions |
OMIM:611092 |
Behavioral Variant Of Frontotemporal Dementia |
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Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Irritability, Inappropria... |
ORPHA:275864 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Frontotemporal Dementia |
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Amyotrophic lateral sclerosis, Irritability, Disinhibition, Inappropriate laughter, Polyphagia |
OMIM:600274 |
Dystonia 1, Torsion, Autosomal Dominant |
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Torticollis, Generalized dystonia, Writer's cramp, Tremor, Torsion dystonia, Depression, Blepharo... |
OMIM:128100 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal social behavior, Compulsive behaviors |
ORPHA:444002 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Focal EEG discharges with secondary generalization, Anorexia, Aggr... |
ORPHA:3077 |
Foxg1 Syndrome |
|
Dystonia, Choreoathetosis, Agenesis of corpus callosum, Impaired social interactions, Bruxism, Ab... |
ORPHA:561854 |
Lamb-Shaffer Syndrome |
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Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal social behavior, Abnormal repetitive ma... |
ORPHA:530983 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
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Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Generalized dystonia, Atax... |
OMIM:205100 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
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Amyotrophic lateral sclerosis, Disinhibition, Dysphagia, Emotional lability, Abnormal repetitive ... |
OMIM:612069 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Dystonia, Ataxia, Aggressive behavior, Tremor, Dysmetria, Depression, Gait ataxia... |
OMIM:615157 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
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Ataxia, Abnormal eating behavior, Tremor, Impaired social interactions, Abnormality of pain sensa... |
ORPHA:544254 |
Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Atrophy of the spinal cord, ... |
ORPHA:35689 |
Atypical Rett Syndrome |
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Restrictive behavior, Impaired pain sensation, Tremor, Tongue thrusting, Gait ataxia, Pill-rollin... |
ORPHA:3095 |
Spinal Muscular Atrophy, Segmental |
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Abnormal anterior horn cell morphology |
OMIM:183020 |
Brunner Syndrome |
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Kinetic tremor, Impulsivity, Aggressive behavior, Self-injurious behavior, Low frustration tolerance |
OMIM:300615 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
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Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology, Dystonia |
OMIM:611890 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
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Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Disinhibition, Dysphagia |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
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Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Disinhibition, Dysphagia |
OMIM:616437 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology |
OMIM:607641 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
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Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Dysphagia, Depression |
OMIM:613954 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Abnormal posturing, Dystonia, Dysphagia |
OMIM:304700 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
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Hyperactivity, Diabetes mellitus, Hyperthyroidism, Aggressive behavior, Shyness, Hypothyroidism, ... |
ORPHA:449291 |
Jeavons Syndrome |
|
Abnormal head movements, EEG with spike-wave complexes, EEG with generalized polyspikes, EEG with... |
ORPHA:139431 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Decreased nerve conduction... |
OMIM:606070 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Tremor, Dysphagia |
ORPHA:2590 |
Childhood Absence Epilepsy |
|
Depression, Punding, Attention deficit hyperactivity disorder, Abnormal social behavior, Jerky he... |
ORPHA:64280 |
Childhood Disintegrative Disorder |
|
Abnormal repetitive mannerisms, Abnormal emotion, Impaired social interactions |
ORPHA:168782 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
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Abnormal head movements, Chorea |
OMIM:616939 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology, Dysphagia |
OMIM:607225 |
X-Linked Intellectual Disability, Van Esch Type |
|
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... |
ORPHA:163976 |
Myoclonic-Astatic Epilepsy |
|
EEG with polyspike wave complexes, Hyperactivity, EEG with focal spike waves, Ataxia, Tremor, EEG... |
ORPHA:1942 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Depression |
OMIM:105550 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Impulsivity, Tremor, Depres... |
OMIM:614298 |
Choreoacanthocytosis |
|
Chorea, Compulsive behaviors, Limb dystonia, Laryngeal dystonia, Impaired vibratory sensation, Se... |
ORPHA:2388 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Narcolepsy, Ataxia, Type II diabetes mellitus, Depression |
OMIM:604121 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Abnormal social behavior, Agitation, Ataxia, Disinhibition |
ORPHA:1020 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Amyotrophic lateral sclerosis, Dystonia, Dysphagia |
OMIM:300857 |
Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Somatic sensory dysfunction |
OMIM:612577 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Dystonia, Chorea, Gait ataxia, Titubation, Dysphagia, Abnormal posturing |
ORPHA:225147 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Impaired so... |
OMIM:610042 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology |
OMIM:611067 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Tremor, Focal dystonia, Dysphagia, Jerky head movements |
ORPHA:240103 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Ataxia, Impulsivity, Aggressive behavior, Tongue thrusting, Gait ataxia, Choreoathetosis, Opistho... |
OMIM:619580 |
Niemann-Pick Disease Type C |
|
Limb dystonia, Axial dystonia, Dystonia, Ataxia, Aggressive behavior, Tremor, Narcolepsy, Chorea,... |
ORPHA:646 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Central diabetes insipidus, Aggressive beh... |
ORPHA:293987 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Hyperintensity of MRI T2 signal of the spinal cord, Dy... |
ORPHA:79139 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Gait ataxia, Progressive gait ataxia, Dystonia, Emotional lability, Abnormal social behavior |
ORPHA:309256 |
48,Xxxy Syndrome |
|
Tremor, Irritability, Hypogonadism, Type II diabetes mellitus, Attention deficit hyperactivity di... |
ORPHA:96263 |
Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology, Paresthesia, Distal sensory impairment |
OMIM:263570 |
Rett Syndrome, Congenital Variant |
|
Dystonia, Chorea, Tongue thrusting, Irritability, Athetosis, Impaired social interactions, Bruxis... |
OMIM:613454 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal head movements, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Typ... |
ORPHA:247815 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Generalized dystonia, Opisthotonus, Attention deficit hyperactivity disorder, Dysphagia, Abnormal... |
ORPHA:216866 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Progressive gait ataxia, Dystonia, Emotional lability, Abnormal social behavior, Intention tremor |
ORPHA:309263 |
Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Dystonia, Degeneration of anterior horn cells, Progressiv... |
ORPHA:276244 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Abnormal motor neuron morphology |
ORPHA:52430 |
Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Dysphagia |
OMIM:617839 |
Metachromatic Leukodystrophy, Adult Form |
|
Chorea, Depression, Progressive gait ataxia, Dystonia, Emotional lability, Abnormal social behavi... |
ORPHA:309271 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Motor neuron atrophy, Inappropriate behavior, Spinocerebellar tract degeneration, Abnormal neuron... |
ORPHA:412066 |
Episodic Ataxia Type 4 |
|
Abnormal head movements, Ataxia |
ORPHA:79136 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... |
OMIM:168000 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Dystonia, Jerky head movements |
OMIM:245348 |
Amyotrophic Lateral Sclerosis 1 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Pseudobulbar paralysis, Dysph... |
OMIM:105400 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... |
OMIM:602433 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Restlessness, EEG with continuous slow activity, Depression |
ORPHA:100070 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Ataxia, Aggressive behavior, Bulimia, Self-biting, Central hypothyroidism, Stereot... |
OMIM:300912 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... |
OMIM:605373 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Axial dystonia, Amyotrophic lateral sclerosis, Dystonia, Ataxia, Head titubation, Chorea, Opistho... |
ORPHA:300605 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
Wagro Syndrome |
|
Aggressive behavior, Agitation, Low frustration tolerance, Compulsive behaviors, Impaired social ... |
OMIM:612469 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Resting tremor, Ataxia, Narcolepsy, Depression, Head tremor |
ORPHA:314404 |
New-Onset Refractory Status Epilepticus |
|
Interictal EEG abnormality, Abnormal head movements, Multifocal epileptiform discharges, EEG with... |
ORPHA:363558 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Impaired vibratory sensation, Resting tremor, Abnormal upper motor neuron morphology, Gait ataxia |
OMIM:601162 |
Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Motor neuron atrophy, Depression, Agitation, Emotional lability |
ORPHA:803 |
Fragile X Syndrome |
|
Abnormal head movements, Hyperactivity, Recurrent hand flapping, Self-biting |
OMIM:300624 |
Young-Onset Parkinson Disease |
|
Restless legs, Impulsivity, Tremor, Depression, Agitation, Impaired social interactions, Dystonia |
ORPHA:2828 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ... |
OMIM:616393 |
Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... |
ORPHA:157954 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Amyotrophic lateral sclerosis, Dysphagia |
OMIM:617892 |
Pure Autonomic Failure |
|
Abnormality of circulating catecholamine level |
ORPHA:441 |
47,Xyy Syndrome |
|
Hyperactivity, Impulsivity, Increased circulating gonadotropin level, Attention deficit hyperacti... |
ORPHA:8 |
Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis, Dysphagia |
OMIM:614808 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Amyotrophic lateral sclerosis, Ataxia, Dysphagia |
OMIM:615911 |
African Trypanosomiasis |
|
Somatic sensory dysfunction, Aggressive behavior, Abnormality of the endocrine system, Myelopathy... |
ORPHA:3385 |
Huntington Disease-Like 3 |
|
Abnormal head movements, Chorea, Dystonia, Progressive gait ataxia |
ORPHA:157946 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Ataxia, Aggressive behavior, Dysmetria, Positive Romberg sign, Nonprogressive cerebellar ataxia, ... |
ORPHA:314647 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Hair-pulling, Hypsarrhythmia, Irritability, Dysphagia, Abnormal repetitive mannerisms |
ORPHA:447997 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Dysphagia |
OMIM:613435 |
Prader-Willi Syndrome Due To Translocation |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Anterior pi... |
ORPHA:177907 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Degeneration of anterior horn cells, Abnormal anterior horn cell morphology |
ORPHA:1145 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal fear-induced behavior, Agitation, Restlessness, Depression |
ORPHA:100924 |
Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Postural tremor, Dysphagia |
OMIM:608627 |
Tuberous Sclerosis Complex |
|
Hyperactivity, Impulsivity, Aggressive behavior, Pancreatic endocrine tumor, Pituitary adenoma, R... |
ORPHA:805 |
Fg Syndrome Type 1 |
|
Attention deficit hyperactivity disorder, Abnormal social behavior, Small pituitary gland, Compul... |
ORPHA:93932 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Abnormal posturing |
OMIM:614857 |
Sandifer Syndrome |
|
Abnormal head movements, Torticollis, Abnormal posturing |
ORPHA:71272 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Distal sensory impairment, Dy... |
ORPHA:600 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Pain insensitivity, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious be... |
OMIM:620330 |
Narcolepsy 7 |
|
Narcolepsy, Type II diabetes mellitus |
OMIM:614250 |
Trichotillomania |
|
Hair-pulling, Compulsive behaviors |
OMIM:613229 |
Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons |
OMIM:253310 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Irritability, Abnormal social behavior, Abnormal aggressive, impulsive or violent behavior |
ORPHA:1675 |
Vici Syndrome |
|
Abnormal posturing, Abnormal thymus morphology, Agenesis of corpus callosum, Dysphagia |
OMIM:242840 |
1P21.3 Microdeletion Syndrome |
|
Abnormal eating behavior, Shyness, Aggressive behavior, Self-injurious behavior, Self-mutilation |
ORPHA:293948 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Decreased response to growth hormone stimulation test, Spina bifida, Precocious puberty, Primary ... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Spina bifida, Precocious puberty, Primary ... |
ORPHA:363958 |
Ocular Motor Apraxia |
|
Jerky head movements |
OMIM:257550 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology |
ORPHA:93941 |
Monosomy 22Q13.3 |
|
Hyperactivity, Impaired pain sensation, Hair-pulling, Bruxism, Agenesis of corpus callosum |
ORPHA:48652 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cervical cord co... |
ORPHA:353281 |
Mend Syndrome |
|
Hyperactivity, Abnormal social behavior, Aggressive behavior |
ORPHA:401973 |
Ogden Syndrome |
|
Abnormal head movements, Torticollis |
ORPHA:276432 |
Unilateral Polymicrogyria |
|
Pseudobulbar paralysis, Giant somatosensory evoked potentials, Abnormal posturing |
ORPHA:268943 |
Trichothiodystrophy |
|
Reduced social reciprocity, Partial agenesis of the corpus callosum, Intention tremor, Gait ataxia |
ORPHA:33364 |
Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
Von Hippel-Lindau Disease |
|
Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom... |
ORPHA:892 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Abnormal lateral ventricle morphology, Impulsivity, Aggressive behavior, Abnormal ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Abnormal lateral ventricle morphology, Impulsivity, Aggressive behavior, Abnormal ... |
ORPHA:353277 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Precocious puberty, Multifocal epileptiform discharges, EEG with generalized ... |
ORPHA:369837 |
Williams Syndrome |
|
Hypogonadotropic hypogonadism, Ataxia, Precocious puberty, Tremor, Dysmetria, Depression, Type II... |
ORPHA:904 |
Idiopathic Camptocormia |
|
Amyotrophic lateral sclerosis, Syringomyelia, Myelitis, Dystonia |
ORPHA:1320 |
Monoamine Oxidase A Deficiency |
|
|
ORPHA:3057 |