Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Intellectual Developmental Disorder, Autosomal Recessive 59 |
|
Aggressive behavior |
OMIM:617323 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
Panic Disorder 1 |
|
Anxiety |
OMIM:167870 |
Autism, Susceptibility To, X-Linked 4 |
|
Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder |
OMIM:300830 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Familial Alzheimer-Like Prion Disease |
|
Cognitive impairment, Deficit in phonologic short-term memory, Emotional lability, Depression, An... |
ORPHA:280397 |
Severe Primary Trimethylaminuria |
|
Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivity |
ORPHA:468726 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Chorea, Inappropriate behavior, Memory impairment, Cognitive impairment, Ataxia, Tremor, Depressi... |
ORPHA:401901 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Chorea, Cognitive impairment, Apathy, Dementia, Depression, Anxiety, Athetosis |
OMIM:615483 |
Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Attention deficit hyperactivity disorder, Self-injurious behavior |
OMIM:607417 |
Dystonia 11, Myoclonic |
|
Writer's cramp, Torticollis, Tremor, Depression, Anxiety, Agoraphobia, Panic attack |
OMIM:159900 |
Huntington Disease-Like 2 |
|
Chorea, Memory impairment, Inertia, Anxiety, Apathy, Dementia, Action tremor, Depression, Subcort... |
OMIM:606438 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Spinocerebellar Ataxia 12 |
|
Dysdiadochokinesis, Dementia, Dysmetria, Head tremor, Axial dystonia, Action tremor, Depression, ... |
OMIM:604326 |
Chorea, Benign Hereditary |
|
Chorea, Dementia, Anxiety |
OMIM:118700 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
Sandhoff Disease, Adult Form |
|
Gait ataxia, Anxiety, Focal dystonia, Tremor, Mental deterioration, Dystonia |
ORPHA:309169 |
Childhood-Onset Benign Chorea With Striatal Involvement |
|
Chorea, Dementia, Anxiety |
ORPHA:494541 |
Myoclonus-Dystonia Syndrome |
|
Anxiety, Writer's cramp, Torticollis, Depression, Panic attack, Dystonia, Personality disorder |
ORPHA:36899 |
Creutzfeldt-Jakob Disease |
|
Gait ataxia, Apathy, Dementia, Depression, Anxiety, Irritability, Memory impairment |
OMIM:123400 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Self-mutilation |
OMIM:137580 |
Intellectual Developmental Disorder, Autosomal Recessive 25 |
|
Anxiety |
OMIM:614346 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety |
OMIM:619031 |
Obsessive-Compulsive Disorder |
|
Skin-picking, Depression, Anxiety |
OMIM:164230 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Dementia, Depression, Anxiety, Dystonia |
OMIM:605909 |
Persistent Idiopathic Facial Pain |
|
Somatic sensory dysfunction, Paresthesia, Impaired pain sensation, Depression, Anxiety |
ORPHA:398147 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
Spinocerebellar Ataxia 48 |
|
Gait ataxia, Chorea, Anxiety, Ataxia, Dysmetria, Tremor, Depression, Mental deterioration, Irrita... |
OMIM:618093 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Dysmetria, Depression, Anxiety, Mental deterioration |
OMIM:619191 |
Spinocerebellar Ataxia 14 |
|
Gait ataxia, Impaired vibration sensation at ankles, Focal dystonia, Dysmetria, Depression, Menta... |
OMIM:605361 |
Huntington Disease-Like 1 |
|
Chorea, Aggressive behavior, Dementia, Dysmetria, Depression, Anxiety |
OMIM:603218 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response, Emotional lability |
OMIM:617028 |
Rapid-Onset Dystonia-Parkinsonism |
|
Gait ataxia, Resting tremor, Limb dystonia, Torticollis, Emotional lability, Craniofacial dystoni... |
ORPHA:71517 |
Intellectual Developmental Disorder, X-Linked 63 |
|
Anxiety |
OMIM:300387 |
Migraine, Familial Hemiplegic, 1 |
|
Tremor, Ataxia, Anxiety |
OMIM:141500 |
Dystonia 12 |
|
Torticollis, Emotional lability, Tremor, Depression, Anxiety, Dystonia |
OMIM:128235 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Memory impairment, Anxiety, Apathy, Tremor, Depression, Mental deterioration, Dystonia |
ORPHA:240085 |
Gm2 Gangliosidosis, Ab Variant |
|
Chorea, Inappropriate behavior, Exaggerated startle response, Abnormal fear/anxiety-related behav... |
ORPHA:309246 |
Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Self-injurious behavior, Agitation |
OMIM:619970 |
Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability |
OMIM:234500 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Glycine Encephalopathy |
|
Hyperactivity, Aggressive behavior, Impulsivity, Irritability, Restlessness |
OMIM:605899 |
Early-Onset Schizophrenia |
|
Diminished motivation, Abnormal emotion/affect behavior, Suicidal ideation, Unhappy demeanor, Emo... |
ORPHA:96369 |
Dystonia 26, Myoclonic |
|
Blepharospasm, Anxiety, Torticollis, Depression, Laryngeal dystonia, Dystonia |
OMIM:616398 |
Pandas |
|
Chorea, Abnormal fear/anxiety-related behavior, Separation insecurity, Emotional lability, Depres... |
ORPHA:66624 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Impulsivity, Hyperactivity, Aggressive behavior, Agitation |
OMIM:309548 |
Geniospasm 1 |
|
Anxiety |
OMIM:190100 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Dystonia, Anxiety |
OMIM:619651 |
Childhood Disintegrative Disorder |
|
Abnormal emotion/affect behavior, Social and occupational deterioration, Anxiety, Motor deteriora... |
ORPHA:168782 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Agitation |
ORPHA:100973 |
Rabies |
|
Paresthesia, Depression, Anxiety |
ORPHA:770 |
Raynaud-Claes Syndrome |
|
Aggressive behavior, Bipolar affective disorder, Depression, Anxiety, Progressive cerebellar atax... |
OMIM:300114 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Inappropriate behavior, Frontotemporal dementia, Inertia, Motor deterioration, Apathy, Dementia, ... |
ORPHA:412066 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior |
OMIM:248510 |
Posttransplant Acute Limbic Encephalitis |
|
Cognitive impairment, Ataxia, Dystonia, Depression, Anxiety, Memory impairment |
ORPHA:163921 |
Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior |
OMIM:239500 |
Parkinsonism With Polyneuropathy |
|
Depression, Resting tremor, Anxiety |
OMIM:619279 |
Fragile X Tremor/Ataxia Syndrome |
|
Gait ataxia, Impaired distal vibration sensation, Dysdiadochokinesis, Postural tremor, Resting tr... |
OMIM:300623 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Chorea, Aggressive behavior, Ataxia, Tremor, Action tremor, Depression, Anxiety, Dystonia |
OMIM:619738 |
Trisomy X |
|
Tremor, Cognitive impairment, Depression, Anxiety |
ORPHA:3375 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Abnormal aggressive, impulsive or vi... |
ORPHA:3077 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Anxiety |
OMIM:606324 |
Developmental And Epileptic Encephalopathy 43 |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Stiff Person Spectrum Disorder |
|
Agoraphobia, Exaggerated startle response, Emotional lability, Anxiety |
ORPHA:3198 |
Choreoacanthocytosis |
|
Progressive choreoathetosis, Aggressive behavior, Dementia, Emotional lability, Self-mutilation o... |
OMIM:200150 |
Tay-Sachs Disease |
|
Exaggerated startle response, Apathy, Psychomotor deterioration, Dementia |
OMIM:272800 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Suicidal ideation |
ORPHA:208441 |
Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Anxiety, Irritabili... |
OMIM:261600 |
Posterior Cortical Atrophy |
|
Memory impairment, Inertia, Ataxia, Anxiety |
ORPHA:54247 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Gait ataxia, Diminished motivation, Aggressive behavior, Cognitive impairment, Dysdiadochokinesis... |
OMIM:615157 |
Dystonia 28 |
|
Anxiety, Torticollis, Leg dystonia, Oromandibular dystonia, Depression, Arm dystonia, Generalized... |
ORPHA:589618 |
Morm Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:75858 |
Developmental And Epileptic Encephalopathy 56 |
|
Action tremor, Ataxia, Anxiety |
OMIM:617665 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Depression, Ataxia, Anxiety |
OMIM:619425 |
Neurodevelopmental Disorder With Dystonia And Seizures |
|
Chorea, Self-injurious behavior, Anxiety, Athetosis, Dystonia |
OMIM:619922 |
Wolfram-Like Syndrome |
|
Depression, Progressive cerebellar ataxia, Dementia, Anxiety |
ORPHA:411590 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Chorea, Resting tremor, Choreoathetosis, Anxiety, Dystonia |
OMIM:606703 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Aggressive behavior, Anxiety |
OMIM:609425 |
Huntington Disease |
|
Chorea, Hostility, Aggressive behavior, Suicidal ideation, Anxiety, Apathy, Dystonia, Depression,... |
ORPHA:399 |
Inherited Creutzfeldt-Jakob Disease |
|
Gait ataxia, Chorea, Apathy, Dementia, Emotional lability, Tremor, Progressive forgetfulness, Dep... |
ORPHA:282166 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Self-biting, Attention deficit hyper... |
OMIM:619827 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Aggressive behavior, Impulsivity, Anxiety, Abnormal eating behavior |
ORPHA:101039 |
Dopa-Responsive Dystonia |
|
Oculogyric crisis, Irritability, Emotional lability, Leg dystonia, Tremor, Depression, Anxiety, A... |
ORPHA:255 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior |
ORPHA:382 |
Perry Syndrome |
|
Inappropriate behavior, Frontotemporal dementia, Suicidal ideation, Apathy, Tremor, Depression, A... |
OMIM:168605 |
Gm2-Gangliosidosis, Ab Variant |
|
Chorea, Exaggerated startle response, Apathy, Dementia, Dystonia |
OMIM:272750 |
Rolandic Epilepsy |
|
Paresthesia, Emotional lability, Dysesthesia, Depression, Anxiety |
ORPHA:1945 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Ataxia, Anxiety |
OMIM:618970 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Anxiety |
OMIM:301013 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Dystonia, Ataxia, Anxiety |
OMIM:620094 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Chorea, Resting tremor, Ataxia, Anxiety, Dystonia, Intention tremor, Panic attack |
OMIM:619725 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:2382 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Aggressive behavior, Anxiety, Dementia, Tremor, Mental deterioration, Dystonia |
OMIM:300894 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Writer's cramp, Torticollis, Focal dystonia, Head tremor, Axial dystonia, Craniofacial dystonia, ... |
ORPHA:420492 |
Landau-Kleffner Syndrome |
|
Gait ataxia, Aggressive behavior, Social and occupational deterioration, Emotional lability, Depr... |
ORPHA:98818 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
Adiposis Dolorosa |
|
Depression, Anxiety |
OMIM:103200 |
Trigeminal Neuralgia |
|
Somatic sensory dysfunction, Episodic paroxysmal anxiety, Paresthesia, Allodynia, Depression |
ORPHA:221091 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Tremor, Cognitive impairment, Ataxia, Anxiety |
ORPHA:36387 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior |
OMIM:615541 |
Multiple System Atrophy, Parkinsonian Type |
|
Gait ataxia, Resting tremor, Postural tremor, Apathy, Axial dystonia, Depression, Anxiety, Progre... |
ORPHA:98933 |
Cln5 Disease |
|
Aggressive behavior, Dysdiadochokinesis, Anxiety, Truncal ataxia, Ataxia, Dysmetria, Tremor, Ment... |
ORPHA:228360 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety |
OMIM:619467 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety |
OMIM:271980 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Depression, Anxiety, Agoraphobia, Opisthotonus |
OMIM:184850 |
Multiple System Atrophy, Cerebellar Type |
|
Gait ataxia, Postural tremor, Resting tremor, Apathy, Limb ataxia, Axial dystonia, Depression, An... |
ORPHA:227510 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Cognitive impairment, Motor deterioration, Apathy, Dementia, Emotional lability, Depression, Anxi... |
ORPHA:136 |
Usher Syndrome Type 3 |
|
Depression, Ataxia, Anxiety |
ORPHA:231183 |
Young-Onset Parkinson Disease |
|
Cognitive impairment, Frontal lobe dementia, Apathy, Dementia, Tremor, Depression, Anxiety, Dysto... |
ORPHA:2828 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathetosis, Oculogy... |
OMIM:608643 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Self-mutilation |
OMIM:615516 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Aggressive behavior, Dysdiadochokinesis, Ataxia, Dysmetria, Anxiety, Intention tremor |
OMIM:618356 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hyperactivity, Aggressive behavior, Agitation, Anxiety, Restlessness |
OMIM:300558 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Aggressive behavior |
OMIM:612716 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Cognitive impairment, Paroxysmal dystonia, Suicidal ideation, Depression, Anxiety |
ORPHA:98784 |
Cln3 Disease |
|
Aggressive behavior, Anxiety, Dementia, Ataxia, Depression, Mental deterioration, Memory impairment |
ORPHA:228346 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response, Irritability, Ataxia |
OMIM:616881 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Irritability, Polyphagia |
OMIM:275000 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Gait ataxia, Impaired vibration sensation in the lower limbs, Postural tremor, Limb dystonia, Tor... |
ORPHA:98808 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:620141 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Gait ataxia, Inertia, Ataxia, Dementia, Dysmetria, Dysesthesia, Depression, Anxiety, Memory impai... |
ORPHA:93256 |
Burning Mouth Syndrome |
|
Emotional lability, Dysesthesia, Impaired temperature sensation, Depression, Anxiety |
ORPHA:353253 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior |
OMIM:620023 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Gait ataxia, Depression, Ataxia, Anxiety |
OMIM:613077 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Dementia, Tremor, Progressive neurologic deterioration, Depression, Anxiety |
ORPHA:329478 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Anxiety, Progressive gait ataxia, Bipolar affective disorder, Depression, Mental deterioration, G... |
ORPHA:329308 |
Myopathy, Mitochondrial, And Ataxia |
|
Dysdiadochokinesis, Truncal ataxia, Limb ataxia, Ataxia, Dysmetria, Tremor, Depression, Anxiety, ... |
OMIM:617675 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Impaired vibration sensation in the lower limbs, Exaggerated startle response |
ORPHA:320406 |
Mcleod Syndrome |
|
Chorea, Impaired vibration sensation at ankles, Depression, Anxiety, Dystonia, Personality disorder |
OMIM:300842 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Depression |
OMIM:620114 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Chorea, Exaggerated startle response, Irritability |
OMIM:617864 |
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 |
|
Exaggerated startle response, Dystonia, Ataxia, Anxiety |
ORPHA:438216 |
Insulinoma |
|
Paresthesia, Abnormality of pain sensation, Tremor, Anxiety, Transient global amnesia |
ORPHA:97279 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Self-biting |
OMIM:618314 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Gait ataxia, Exaggerated startle response, Truncal titubation, Dysmetria, Tremor |
OMIM:618056 |
Autoimmune Hypoparathyroidism |
|
Paresthesia, Anxiety, Depression, Laryngeal dystonia, Irritability |
ORPHA:36913 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Dystonia-Aphonia Syndrome |
|
Generalized dystonia, Cognitive impairment, Oromandibular dystonia, Anxiety |
ORPHA:412217 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Gait ataxia, Paroxysmal bursts of laughter, Aggressive behavior, Choreoathetosis, Happy demeanor,... |
OMIM:619580 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Tay-Sachs Disease |
|
Exaggerated startle response, Memory impairment, Anxiety, Dysmetria, Tremor, Laryngeal dystonia, ... |
ORPHA:845 |
Sandhoff Disease |
|
Exaggerated startle response, Progressive psychomotor deterioration, Impaired temperature sensati... |
OMIM:268800 |
Adiposis Dolorosa |
|
Memory impairment, Paresthesia, Depression, Anxiety |
ORPHA:36397 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Arm dystonia, Dementia, Paroxysmal dystonia, Anxiety |
ORPHA:79244 |
Usher Syndrome |
|
Cognitive impairment, Vestibular areflexia, Ataxia, Depression, Anxiety |
ORPHA:886 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Attention deficit hyperactivity diso... |
ORPHA:449291 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder |
OMIM:610042 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Emotional lability, Anxiety, Depression, Mental deterioration |
OMIM:219080 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal fear/anxiety-related behavior, Apathy, Depression, Anxiety |
ORPHA:100924 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Emotional lability, Anxiety, Depression, Mental deterioration |
OMIM:610475 |
Progressive Non-Fluent Aphasia |
|
Frontotemporal dementia, Depression, Anxiety, Mental deterioration, Memory impairment |
ORPHA:100070 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Choreoacanthocytosis |
|
Blepharospasm, Hair-pulling, Limb dystonia, Self-mutilation of tongue and lips due to involuntary... |
ORPHA:2388 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Emotional lability, Anxiety, Depression, Mental deterioration |
OMIM:610489 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
Autosomal Dominant Hypocalcemia |
|
Paresthesia, Writer's cramp, Emotional lability, Depression, Anxiety |
ORPHA:428 |
Congenital Heart Defects, Multiple Types, 7 |
|
Depression, Anxiety |
OMIM:618780 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response |
OMIM:615574 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Hyperactivity, Emotional lability |
OMIM:620047 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Cognitive impairment |
OMIM:617527 |
Nmda Receptor Encephalitis |
|
Chorea, Memory impairment, Hypersexuality, Oculogyric crisis, Choreoathetosis, Depression, Anxiet... |
ORPHA:217253 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Dystonia |
ORPHA:79255 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Dystonia |
ORPHA:521426 |
Pituitary Adenoma 4, Acth-Secreting |
|
Abnormal fear/anxiety-related behavior, Emotional lability |
OMIM:219090 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response |
OMIM:253800 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Social and occupational deterioratio... |
ORPHA:353281 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Abnormal fear/anxiety-related behavior, Aggressive behavior, Social and occupational deterioratio... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Abnormal fear/anxiety-related behavior, Aggressive behavior, Social and occupational deterioratio... |
ORPHA:353277 |
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 |