| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301008 |
| Developmental And Epileptic Encephalopathy 56 |
|
Ataxia, EEG abnormality, Anxiety, Attention deficit hyperactivity disorder, Broad-based gait |
OMIM:617665 |
| Severe Primary Trimethylaminuria |
|
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety |
ORPHA:468726 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Impulsivity, Aggressive behavior, Hyperactivity |
OMIM:309548 |
| Ichthyosis, Lamellar, Autosomal Dominant |
|
Hyperkeratosis, Pruritus |
OMIM:146750 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Recurrent cutaneous fungal infections, Palmoplantar keratoderma |
OMIM:244850 |
| Autism, Susceptibility To, X-Linked 4 |
|
Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder |
OMIM:300830 |
| Porokeratosis Of Mibelli |
|
Hyperkeratosis, Pruritus |
ORPHA:735 |
| Familial Alzheimer-Like Prion Disease |
|
Emotional lability, Anxiety, Attention deficit hyperactivity disorder, Depression |
ORPHA:280397 |
| Epidermolysis Bullosa Simplex, Localized |
|
Hyperkeratosis |
OMIM:131800 |
| Mental Retardation, Autosomal Dominant 52 |
|
Anxiety, Hyperactivity |
OMIM:617796 |
| Mental Retardation, Autosomal Dominant 45 |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617600 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617756 |
| Auditory Neuropathy, Autosomal Dominant, 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 |
|
Hyperkeratosis, Palmoplantar keratoderma |
OMIM:616400 |
| Mental Retardation, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Familial Reactive Perforating Collagenosis |
|
Pruritus, Hyperkeratotic papule, Perifolliculitis, Maculopapular exanthema, Crusting erythematous... |
ORPHA:79147 |
| Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617574 |
| Mental Retardation, Fra12A Type |
|
Hyperkeratosis |
OMIM:136630 |
| Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Depr... |
OMIM:619279 |
| Dystonia 11, Myoclonic |
|
Tremor, Depression, Agoraphobia, Writer's cramp, Torticollis, Anxiety |
OMIM:159900 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Pruritus, Perifollicular hyperkeratosis |
ORPHA:505 |
| Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Mental Retardation, Autosomal Recessive 37 |
|
Aggressive behavior, Hyperactivity |
OMIM:615493 |
| Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis |
OMIM:101850 |
| Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement |
|
Hyperkeratosis |
OMIM:270220 |
| Dermatoleukodystrophy |
|
Hyperkeratosis |
ORPHA:1659 |
| Epidermolysis Bullosa, Nonspecific, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
| Epidermolysis Bullosa Dystrophica, Pretibial |
|
Hyperkeratosis, Pruritus |
OMIM:131850 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Inability to walk, Irritability, Hyperactivity |
OMIM:616657 |
| Cole Disease |
|
Hyperkeratosis, Palmoplantar keratoderma |
OMIM:615522 |
| Pemphigus Erythematosus |
|
Pruritus, Acantholysis, Crusting erythematous dermatitis |
ORPHA:79480 |
| Ichthyosis Hystrix Of Curth-Macklin |
|
Hyperkeratosis, Recurrent skin infections, Diffuse palmoplantar hyperkeratosis |
ORPHA:79503 |
| Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
| Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
| Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
| Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Aggressive behavior, Hyperactivity |
ORPHA:356996 |
| Myoclonus-Dystonia Syndrome |
|
Personality disorder, Dystonia, Depression, Writer's cramp, Panic attack, Torticollis, Anxiety |
ORPHA:36899 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
EEG abnormality, Hyperactivity |
ORPHA:436151 |
| Peeling Skin Syndrome 5 |
|
Hyperkeratosis |
OMIM:617115 |
| Obsessive-Compulsive Disorder |
|
Skin-picking, Anxiety, Depression |
OMIM:164230 |
| Gilles De La Tourette Syndrome |
|
Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder |
OMIM:137580 |
| Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Acantholysis |
ORPHA:704 |
| Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis |
OMIM:618531 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Bipolar affective disorder, Tremor, Aggressive behavior, Broad-based gait, Resting tremor, Irrita... |
ORPHA:3077 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
| Huntington Disease-Like 2 |
|
Dystonia, Depression, Apathy, Action tremor, Bradykinesia, Irritability, Anxiety |
OMIM:606438 |
| Superficial Epidermolytic Ichthyosis |
|
Acantholysis, Edema, Palmoplantar keratoderma |
ORPHA:455 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Depression, Difficulty walking, Ataxia, Anxiety, Dysmetria, Attention deficit hyperactivity disorder |
OMIM:619191 |
| Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis, Pruritus |
OMIM:617571 |
| Pemphigus Foliaceus |
|
Crusting erythematous dermatitis, Acantholysis |
ORPHA:79481 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Hyperkeratosis, Pruritus, Plantar hyperkeratosis, Palmar hyperkeratosis |
ORPHA:79399 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Acantholysis, Palmoplantar keratoderma, Erythroderma, Recurrent skin infections, Psoriasiform der... |
OMIM:615508 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Gait ataxia, Depression, Resting tremor, Bradykinesia, Emotional lability, Craniofacial dystonia,... |
ORPHA:71517 |
| Developmental And Epileptic Encephalopathy 43 |
|
Ataxia, Hyperactivity |
OMIM:617113 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Dystonia, Depression, Resting tremor, Bradykinesia, Anxiety |
OMIM:605909 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Perifolliculitis, Follicular hyperkeratosis, Chronic furunculosis, Recurrent cutaneous abscess fo... |
OMIM:613736 |
| Darier-White Disease |
|
Pruritus, Subungual hyperkeratotic fragments, Acantholysis |
OMIM:124200 |
| Pachyonychia Congenita 4 |
|
Hyperkeratosis, Palmoplantar keratoderma |
OMIM:615728 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Difficulty walking, Abnormal motor evoked potentials, Ataxia, Abnormal auditory evoked potentials... |
ORPHA:320401 |
| Spinocerebellar Ataxia 12 |
|
Dysdiadochokinesis, Axial dystonia, Depression, Head tremor, Action tremor, Progressive cerebella... |
OMIM:604326 |
| Smith-Magenis syndrome |
|
Self-mutilation, Hyperactivity |
DECIPHER:8 |
| Pandas |
|
Claustrophobia, Depression, Agoraphobia, Separation insecurity, Emotional lability, Impulsivity, ... |
ORPHA:66624 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials, Ataxia |
ORPHA:99852 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Aggressive behavior, Abnormality of the pinna, Ataxia, Hyperactivity, Optic atrophy |
OMIM:300983 |
| Hyperprolinemia, Type I |
|
EEG abnormality, Aggressive behavior, Ataxia, Hyperactivity |
OMIM:239500 |
| Dystonia 12 |
|
Dystonia, Depression, Bradykinesia, Emotional lability, Torticollis, Unsteady gait, Anxiety |
OMIM:128235 |
| Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Paroxysmal dystonia, Normal interictal EEG, Anxiety |
OMIM:602066 |
| Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
| Iga Pemphigus |
|
Pruritus, Pustule, Cutaneous abscess, Neutrophilic infiltration of the skin, Acantholysis |
ORPHA:555905 |
| Landau-Kleffner Syndrome |
|
EEG with frontal focal spikes, EEG with temporal focal spikes, Interictal EEG abnormality, Aggres... |
ORPHA:98818 |
| Acquired Ichthyosis |
|
Hyperkeratosis, Pruritus, Recurrent skin infections, Palmoplantar keratoderma |
ORPHA:454 |
| Glycine Encephalopathy |
|
Lethargy, Aggressive behavior, Impulsivity, Irritability, Hyperactivity |
OMIM:605899 |
| Lennox-Gastaut Syndrome |
|
Personality disorder, Aggressive behavior, EEG with focal sharp slow waves, EEG abnormality, Fall... |
ORPHA:2382 |
| Abcd Syndrome |
|
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon |
OMIM:600501 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity |
OMIM:618090 |
| Mohr-Tranebjaerg Syndrome |
|
Inability to walk, Tremor, Dystonia, Attention deficit hyperactivity disorder, Absent brainstem a... |
ORPHA:52368 |
| Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617526 |
| Familial Benign Chronic Pemphigus |
|
Hyperkeratosis, Acantholysis |
ORPHA:2841 |
| Skin Fragility-Woolly Hair Syndrome |
|
Palmoplantar keratosis with erythema and scale, Acantholysis |
OMIM:607655 |
| Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans, Pruritus |
ORPHA:409 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Macrotia |
OMIM:300928 |
| Non-Epidermolytic Palmoplantar Keratoderma |
|
Pruritus, Diffuse palmoplantar hyperkeratosis |
ORPHA:2337 |
| Insulin-Like Growth Factor I Deficiency |
|
Sensorineural hearing impairment, Hyperactivity |
OMIM:608747 |
| Mannosidosis, Beta A, Lysosomal |
|
Hearing impairment, Aggressive behavior, Hyperactivity |
OMIM:248510 |
| Ichthyosis With Confetti |
|
Hyperkeratosis, Erythroderma, Palmoplantar hyperkeratosis |
OMIM:609165 |
| Fraxe Intellectual Disability |
|
Prominent ear helix, Impulsivity, Aggressive behavior, Hyperactivity |
ORPHA:100973 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Neonatal death, Acantholysis |
OMIM:609638 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Pruritis on abdomen, Pruritus, Palmar pruritus, Pruritus on foot, Eczematoid dermatitis, Pruritis... |
ORPHA:64745 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Gait disturbance, Ataxia, Abnormal auditory evoked ... |
OMIM:125250 |
| Pityriasis Rubra Pilaris |
|
Pruritus, Pustule, Palmoplantar keratoderma, Erythroderma, Subungual hyperkeratosis, Eczema |
ORPHA:2897 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Impulsivity, Aggressive behavior, Hyperactivity |
OMIM:604317 |
| Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... |
OMIM:616648 |
| Cln5 Disease |
|
Dysdiadochokinesis, Inability to walk, Tremor, EEG with spike-wave complexes, Truncal ataxia, Agg... |
ORPHA:228360 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Tremor, Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic act... |
ORPHA:206443 |
| Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Dystonia, Hypsarrhythmia, Depression, EEG with focal epileptiform discharges, Multifocal epilepti... |
ORPHA:88616 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Gait disturbance, Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduc... |
OMIM:601455 |
| Juvenile Huntington Disease |
|
Dystonia, Gait ataxia, Depression, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Irritabil... |
ORPHA:248111 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Postural tremor, Blepharospasm, Resting tremor, Bradykinesia, Leg dystonia, Anxiety |
OMIM:606324 |
| Hypotrichosis 6 |
|
Follicular hyperkeratosis, Pruritus |
OMIM:607903 |
| Stiff Person Spectrum Disorder |
|
Difficulty walking, Agoraphobia, Emotional lability, Exaggerated startle response, Falls, Anxiety |
ORPHA:3198 |
| Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis |
ORPHA:199267 |
| Phenylketonuria |
|
Self-mutilation, Aggressive behavior, Depression, Irritability, Anxiety, Hyperactivity, Attention... |
OMIM:261600 |
| Peeling Skin Syndrome 6 |
|
Pruritus, Orthokeratosis, Parakeratosis |
OMIM:618084 |
| Chromosome 3Q29 Deletion Syndrome |
|
Gait ataxia, Aggressive behavior, Macrotia, Posteriorly rotated ears, Anxiety, Hyperactivity |
OMIM:609425 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Inability to walk, Tremor, Self-injurious behavior, Paroxysmal bursts of laughter, EEG abnormalit... |
OMIM:618718 |
| Mental Retardation, Autosomal Dominant 43 |
|
Impulsivity, Anxiety, Hyperactivity |
OMIM:616977 |
| Porokeratosis |
|
Hyperkeratosis, Pruritus |
ORPHA:79358 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Anxiety, Aggressive behavior, Hyperactivity, Macrotia |
OMIM:300558 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Tremor, Dystonia, Aggressive behavior, Ataxia, Hyperactivity |
OMIM:612716 |
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Erythroderma, Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis |
OMIM:133200 |
| Lymphatic Malformation 4 |
|
Hyperkeratosis, Lymphedema |
OMIM:615907 |
| Aminoacylase 1 Deficiency |
|
Sensorineural hearing impairment, Hyperactivity |
OMIM:609924 |
| Mental Retardation, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior, Macrotia |
OMIM:615541 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Tremor, Ataxia, Dystonia |
OMIM:615924 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Macrotia |
OMIM:301013 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy |
OMIM:617519 |
| Olmsted Syndrome 2 |
|
Pruritus, Palmoplantar keratoderma, Hyperkeratosis, Parakeratosis, Perioral hyperkeratosis, Palmo... |
OMIM:619208 |
| Microcephaly, Seizures, And Developmental Delay |
|
Ataxia, Hyperactivity |
OMIM:613402 |
| Bazex Syndrome |
|
Pruritus, Palmoplantar keratoderma, Hyperkeratosis, Edema, Parakeratosis |
ORPHA:166113 |
| Vulvovaginal Gingival Syndrome |
|
Pruritus, Parakeratosis |
ORPHA:83453 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Aggressive behavior, Self-injurious behavior, Ataxia, EEG abnormality, Anxiety, Hyperactivity |
OMIM:271980 |
| Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Pruritus, Palmoplantar keratoderma, Parakeratosis |
OMIM:614594 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... |
OMIM:601596 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Inappropriate laughter, Ataxia, EEG abnormality, Hyperactivity, Broad-based gait, Happy demeanor |
ORPHA:411515 |
| Lichen Planus Pemphigoides |
|
Hyperkeratosis, Pruritus |
ORPHA:254478 |
| Sotos Syndrome 3 |
|
Hyperactivity |
OMIM:617169 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Hyperkeratosis, Erythroderma, Palmoplantar keratoderma, Parakeratosis |
OMIM:612281 |
| Dystonia 26, Myoclonic |
|
Depression, Blepharospasm, Laryngeal dystonia, Torticollis, Anxiety |
OMIM:616398 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
| Psoriasis 2 |
|
Hyperkeratosis, Psoriasiform dermatitis, Parakeratosis |
OMIM:602723 |
| Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Pruritus, Parakeratosis |
ORPHA:158681 |
| Rasmussen Subacute Encephalitis |
|
Inability to walk, Hemidystonia, EEG with focal epileptiform discharges, Interictal epileptiform ... |
ORPHA:1929 |
| Coffin-Siris Syndrome 8 |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity |
OMIM:618362 |
| Olmsted Syndrome, X-Linked |
|
Palmoplantar keratoderma, Hyperkeratosis, Subungual hyperkeratosis, Parakeratosis, Palmoplantar h... |
OMIM:300918 |
| Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Seborrheic dermatitis |
OMIM:610227 |
| Xq25 Microduplication Syndrome |
|
Anxiety, Hyperactivity |
ORPHA:521258 |
| Xq25 Duplication Syndrome |
|
Anxiety, Hyperactivity |
OMIM:300979 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Hyperkeratosis, Pruritus, Palmoplantar keratoderma, Parakeratosis |
OMIM:615821 |
| Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response, Anxiety, Abnormal fear/anxiety-related behavior, Inapprop... |
ORPHA:309246 |
| Perry Syndrome |
|
Tremor, Dystonia, Disinhibition, Akinesia, Depression, Apathy, Bradykinesia, Anxiety, Inappropria... |
OMIM:168605 |
| Lethal Acantholytic Erosive Disorder |
|
Oligohydramnios, Acantholysis |
ORPHA:158687 |
| Myoclonic-Astatic Epilepsy |
|
Tremor, Abnormal emotion/affect behavior, EEG with generalized slow activity, EEG with polyspike ... |
ORPHA:1942 |
| Mental Retardation, Autosomal Recessive 61 |
|
Posteriorly rotated ears, EEG abnormality, Aggressive behavior, Hyperactivity |
OMIM:617773 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Inability to walk, Dystonia, Gait ataxia, Aggressive behavior, Impulsivity, EEG abnormality, Hype... |
ORPHA:500180 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Sensorineural hearing impairment, Aggressive behavior, Hyperactivity |
OMIM:618342 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Bipolar affective disorder, Aggressive behavior, Depression, Self-injurious behavior, Progressive... |
ORPHA:485350 |
| Optic Atrophy 11 |
|
Facial diplegia, Macrotia, Ataxia, Hearing impairment, Dysmetria, Hyperactivity, Optic atrophy |
OMIM:617302 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Optic atrophy, Lethargy, Hyperactivity |
OMIM:274270 |
| Vohwinkel Syndrome, Variant Form |
|
Hyperkeratosis, Orthokeratosis, Parakeratosis |
OMIM:604117 |
| Early-Onset Schizophrenia |
|
Low self esteem, Depression, Abnormal emotion/affect behavior, Impairment in personality function... |
ORPHA:96369 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Ataxia, Absent brainstem auditory responses, Sensorineural hearing im... |
ORPHA:1215 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity |
ORPHA:85288 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Dysdiadochokinesis, Tremor, Gait ataxia, Autonomic bladder dysfunction, Orthostatic hypotension, ... |
ORPHA:99027 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Hyperkeratosis, Acne inversa, Orthokeratosis |
OMIM:617337 |
| Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hearing impairment, Aggressive behavior, Broad-based gait, Hyperactivity |
ORPHA:457260 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Dystonia, Aggressive behavior, Self-injurious behavior, Ataxia, Hyperactivity, Athetosis |
ORPHA:382 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Inability to walk, EEG with spike-wave complexes, EEG with series of focal spikes, Aggressive beh... |
ORPHA:168491 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Erythroderma, Orthokeratosis, Palmoplantar keratoderma, Parakeratosis |
OMIM:604777 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Anxiety, Impulsivity, Aggressive behavior, Hyperactivity |
ORPHA:101039 |
| Naxos Disease |
|
Palmoplantar keratoderma, Acantholysis |
OMIM:601214 |
| Ck Syndrome |
|
Posteriorly rotated ears, Irritability, Aggressive behavior, Hyperactivity |
ORPHA:251383 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Inability to walk, Gait ataxia, Head tremor, Limb ataxia, Absent brainstem auditory responses, Se... |
ORPHA:101085 |
| Mental Retardation, Autosomal Recessive 38 |
|
Self-mutilation, Unsteady gait, Aggressive behavior, Hyperactivity |
OMIM:615516 |
| Gand Syndrome |
|
Inappropriate laughter, Hyperactivity |
OMIM:615074 |
| Ck Syndrome |
|
Posteriorly rotated ears, Irritability, Aggressive behavior, Hyperactivity |
OMIM:300831 |
| Peeling Skin Syndrome 4 |
|
Hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma |
OMIM:607936 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response, EEG with temporal focal spikes |
ORPHA:163985 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Clark-Baraitser Syndrome |
|
Aggressive behavior, Hyperactivity |
OMIM:617752 |
| Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Hearing impairment, Optic atrophy, Aggressive behavior, Hyperactivity |
ORPHA:369939 |
| Infantile Neuroaxonal Dystrophy |
|
Dystonia, Gait disturbance, Abnormal autonomic nervous system physiology, Ataxia, Emotional labil... |
ORPHA:35069 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Uplifted earlobe, Impulsivity, Hyperactivity |
OMIM:300143 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Dysdiadochokinesis, Dystonia, Gait ataxia, Bradykinesia, Emotional lability, Impulsivity, Dysmetr... |
OMIM:610217 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Hyperactivity, Unsteady gait, Broad-based gait, Happy demeanor |
OMIM:617865 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Lethargy, Blepharospasm, Emotional lability, Limb tremor, Exaggerated startle response, Torticoll... |
OMIM:608643 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Gait disturbance, Ataxia, EEG abnormality, Broad-... |
ORPHA:206448 |
| Hyperphosphatasia With Mental Retardation Syndrome 6 |
|
Thickened helices, Aggressive behavior, EEG with multifocal slow activity, Hyperactivity, Large e... |
OMIM:616809 |
| Acrocraniofacial Dysostosis |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairment |
OMIM:201050 |
| Stiff-Person Syndrome |
|
Depression, Agoraphobia, Opisthotonus, Exaggerated startle response, Anxiety |
OMIM:184850 |
| Mental Retardation, Autosomal Dominant 7 |
|
Thickened helices, Inappropriate laughter, Macrotia, Gait disturbance, Abnormality of the pinna, ... |
OMIM:614104 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Tremor, Inappropriate laughter, Ataxia, EEG with abnormally slow frequencies, EEG abnormality, Hy... |
ORPHA:98794 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hearing impairment, Aggressive behavior, Broad-based gait, Hyperactivity |
OMIM:300958 |
| Cerebrotendinous Xanthomatosis |
|
Personality disorder, Dystonia, Aggressive behavior, Depression, Gait disturbance, Resting tremor... |
ORPHA:909 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Vestibular areflexia, Absent brainstem auditory responses, Head titubation |
ORPHA:3240 |
| X-Linked Adrenoleukodystrophy |
|
Disinhibition, Aggressive behavior, Gait disturbance, Inappropriate sexual behavior, Hyperactivit... |
ORPHA:43 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Tremor, Gait ataxia, Aggressive behavior, Abnormality of the pinna, Hyperactivity, Mood swings |
OMIM:300354 |
| Pitt-Hopkins-Like Syndrome 1 |
|
EEG abnormality, Aggressive behavior, Ataxia, Hyperactivity |
OMIM:610042 |
| Adenylosuccinase Deficiency |
|
Self-mutilation, Inability to walk, Inappropriate laughter, Gait ataxia, Aggressive behavior, Opi... |
OMIM:103050 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Aggressive behavior, Hyperactivity |
OMIM:615824 |
| Pachyonychia Congenita 3 |
|
Chapped lip, Palmoplantar keratoderma, Hyperkeratosis, Palmar hyperkeratosis, Plantar hyperkeratosis |
OMIM:615726 |
| Graves Disease, Susceptibility To, 1 |
|
Irritability, Hyperactivity |
OMIM:275000 |
| Coffin-Siris Syndrome 7 |
|
Posteriorly rotated ears, Hearing impairment, Hyperactivity, Macrotia |
OMIM:618027 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Ataxia, Optic disc pallor |
OMIM:619260 |
| Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Aggressive behavior, Hyperactivity |
OMIM:615286 |
| Symptomatic Form Of Fragile X Syndrome In Female Carrier |
|
Aggressive behavior, Depression, Macrotia, Self-injurious behavior, Irritability, Anxiety, Hypera... |
ORPHA:449291 |
| Stevens-Johnson Syndrome |
|
Acantholysis |
ORPHA:36426 |
| Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Inappropriate crying, Opisthotonus, Hearing impai... |
ORPHA:206436 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity, EEG with burst suppression, Hypsarrhythmia |
OMIM:619239 |
| X-Linked Creatine Transporter Deficiency |
|
Self-mutilation, Dystonia, Aganglionic megacolon, Ataxia, Hyperactivity, Athetosis |
ORPHA:52503 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Difficulty walking, Exaggerated startle response, Optic atrophy, Optic disc pallor |
ORPHA:320406 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Low-set, posteriorly rotated ears, Exaggerated startle response, Ataxia |
OMIM:618598 |
| Smith-Magenis Syndrome |
|
Self-mutilation, Morphological abnormality of the middle ear, Head-banging, Hearing impairment, E... |
OMIM:182290 |
| Toxic Epidermal Necrolysis |
|
Acantholysis |
ORPHA:537 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Macrotia |
OMIM:618504 |
| Chromosome 2Q37 Deletion Syndrome |
|
Self-injurious behavior, Sensorineural hearing impairment, Aggressive behavior, Hyperactivity |
OMIM:600430 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Tremor, Gait ataxia, Ataxia, Limb dystonia, Hyperactivity |
ORPHA:363400 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Irritability, Aggressive behavior, Macrotia |
ORPHA:391307 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Macrotia, Ataxia, Hypsarrhythmia |
OMIM:300912 |
| Rubinstein-Taybi Syndrome 2 |
|
Posterior helix pit, Hyperactivity |
OMIM:613684 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Aggressive behavior, Hyperactivity |
ORPHA:85327 |
| Gomez-Lopez-Hernandez Syndrome |
|
Bipolar affective disorder, Depression, Self-injurious behavior, Ataxia, Posteriorly rotated ears... |
OMIM:601853 |
| Gm2-Gangliosidosis, Ab Variant |
|
Apathy, Exaggerated startle response, Dystonia |
OMIM:272750 |
| Cockayne Syndrome Type 1 |
|
Tremor, Macrotia, Difficulty walking, Gait disturbance, Ataxia, Hearing impairment, Absent brains... |
ORPHA:90321 |
| Angelman Syndrome |
|
Progressive gait ataxia, Paroxysmal bursts of laughter, Limb tremor, EEG abnormality, Hyperactivi... |
OMIM:105830 |
| Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Self-biting, Hyperactivity |
OMIM:618314 |
| Hyperlysinemia, Type I |
|
Hyperactivity |
OMIM:238700 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Ataxia, Exaggerated startle response, Anxiety, Broad-based gait |
ORPHA:438216 |
| Cri-Du-Chat Syndrome |
|
Self-mutilation, Aggressive behavior, Difficulty walking, Abnormality of the pinna, Hearing impai... |
OMIM:123450 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Optic atrophy, Optic disc pallor |
OMIM:609541 |
| 2Q23.1 Microdeletion Syndrome |
|
Paroxysmal bursts of laughter, Self-injurious behavior, Ataxia, Hyperactivity |
ORPHA:228402 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Hypoplasia of the semicircular canal, Abnormal autonomic nervous system physiology, Long-segment ... |
OMIM:609136 |
| Angelman Syndrome |
|
Inability to walk, Tremor, Inappropriate laughter, Aggressive behavior, Broad-based gait, Self-in... |
ORPHA:72 |
| Tay-Sachs Disease |
|
Inability to walk, Tremor, Dystonia, Depression, Gait disturbance, Laryngeal dystonia, Hearing im... |
ORPHA:845 |
| Arthrogryposis, Distal, Type 2A |
|
Hearing impairment, Abnormal auditory evoked potentials |
OMIM:193700 |
| Tay-Sachs Disease |
|
Apathy, Exaggerated startle response |
OMIM:272800 |
| Intellectual Disability, Birk-Barel Type |
|
Fatiguable weakness of proximal limb muscles, Protruding ear, Fatigable weakness of skeletal musc... |
ORPHA:166108 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Low-set, posteriorly rotated ears, Aggressive behavior, Self-biting |
ORPHA:3306 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Self-mutilation, Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous s... |
OMIM:256800 |
| Mucopolysaccharidosis, Type Iiib |
|
Hearing impairment, Aggressive behavior, Hyperactivity |
OMIM:252920 |
| Mental Retardation, Autosomal Recessive 13 |
|
Hyperactivity |
OMIM:613192 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Aggressive behavior, Ataxia, Posteriorly rotated ears, Anxiety, Hyperactivity |
OMIM:618430 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Bilateral sensorineural hearing impairment, Sensorineural hearing impairment, Hyperactivity, Atte... |
ORPHA:73272 |
| Fragile X Syndrome |
|
Hyperactivity, Macrotia |
OMIM:300624 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Aggressive behavior, Macrotia, Ataxia, Multifocal epileptiform discharges, Hearing impairment, EE... |
ORPHA:369891 |
| 13Q12.3 Microdeletion Syndrome |
|
Self-mutilation, Hearing impairment, Hyperactivity |
ORPHA:412035 |
| 16P12.1P12.3 Triplication Syndrome |
|
Skin-picking, Nail-biting, Anxiety, Hyperactivity, Attention deficit hyperactivity disorder, Larg... |
ORPHA:485405 |
| Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529799 |
| Choreoacanthocytosis |
|
Hair-pulling, Head titubation, Emotional lability, Head-banging, Progressive inability to walk, F... |
ORPHA:2388 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Chromosome 15Q25 Deletion Syndrome |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:614294 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Tremor, Aggressive behavior, EEG abnormality, Hyperactivity, Abnormality of earlobe, Broad-based ... |
ORPHA:85293 |
| Cockayne Syndrome A |
|
Tremor, Gait disturbance, Abnormality of the pinna, Ataxia, Abnormal auditory evoked potentials, ... |
OMIM:216400 |
| 19P13.3 Microduplication Syndrome |
|
Self-injurious behavior, Posteriorly rotated ears, Irritability, Hyperactivity, Microtia |
ORPHA:447980 |
| Lamb-Shaffer Syndrome |
|
Optic atrophy, Ataxia, Hyperactivity |
ORPHA:530983 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Aggressive behavior, Abnormally folded helix, Emotional lability, Low frustration tolerance, Hype... |
OMIM:309520 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Self-mutilation, Inappropriate laughter, Low frustration tolerance, Optic nerve hypoplasia, Hyper... |
ORPHA:363686 |
| Mend Syndrome |
|
Abnormal auditory evoked potentials, Aggressive behavior, Hyperactivity |
ORPHA:401973 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Skin rash, Xerostomia, Acantholysis, Inflammatory abnormality of the skin |
ORPHA:95455 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Dystonia, Tremor, Akinesia, Depression, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia, Hy... |
OMIM:234200 |
| Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Macrotia, Hypsarrhythmia |
OMIM:615574 |
| Cockayne Syndrome B |
|
Tremor, Abnormality of the pinna, Ataxia, Abnormal auditory evoked potentials, Sensorineural hear... |
OMIM:133540 |
| Glass Syndrome |
|
Hyperactivity, Aggressive behavior, Broad-based gait, Happy demeanor |
OMIM:612313 |
| Mucopolysaccharidosis, Type Iiia |
|
Hearing impairment, Hyperactivity |
OMIM:252900 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Chromosome 10Q26 Deletion Syndrome |
|
Aggressive behavior, Sensorineural hearing impairment, Protruding ear, Hyperactivity, Broad-based... |
OMIM:609625 |
| Citrullinemia Type Ii |
|
Tremor, Lethargy, Aggressive behavior, Irritability, Hyperactivity |
ORPHA:247585 |
| Trisomy 10P |
|
Low voltage EEG, Macrotia, EEG with burst suppression, Posteriorly rotated ears, Abnormal auditor... |
ORPHA:171929 |
| Pediatric-Onset Graves Disease |
|
Hyperactivity, Tremor, Irritability, Mood swings |
ORPHA:525731 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
| 47,Xyy Syndrome |
|
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity |
ORPHA:8 |
| Early Infantile Epileptic Encephalopathy |
|
Tremor, Uni- and bilateral multifocal epileptiform discharges, EEG with spike-wave complexes, Dys... |
ORPHA:1934 |
| Hyperlysinemia |
|
Tremor, EEG with spike-wave complexes, Hypoplastic helices, Hypoplasia of the antihelix, Opisthot... |
ORPHA:2203 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Sensorineural hearing impairment, Hyperactivity |
OMIM:609727 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Dystonia, Hypsarrhythmia, Low-set, posteriorly rotated ears, Exaggerated startle response, Sensor... |
ORPHA:521426 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Inability to walk, Difficulty walking, Gait disturbance, Ataxia, Hearing impairment, Dysmetria, H... |
ORPHA:139396 |
| Sandhoff Disease |
|
Exaggerated startle response, Ataxia, Orthostatic hypotension |
OMIM:268800 |
| Cerebellar Ataxia, Nonprogressive, With Mental Retardation |
|
Aggressive behavior, Ataxia, Unsteady gait, Protruding ear, Dysmetria, Hyperactivity, Short ear |
OMIM:614756 |
| Joubert Syndrome 1 |
|
Self-mutilation, Aggressive behavior, Ataxia, Hyperactivity, Optic disc pallor |
OMIM:213300 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Gait ataxia, Macrotia |
OMIM:300486 |
| Mucopolysaccharidosis, Type Iiic |
|
Hearing impairment, Hyperactivity |
OMIM:252930 |
| Mucopolysaccharidosis Type 3 |
|
Thickened helices, Fatigable weakness of swallowing muscles, Disinhibition, Aggressive behavior, ... |
ORPHA:581 |
| Familial Gestational Hyperthyroidism |
|
Hand tremor, Hyperactivity |
ORPHA:99819 |
| White-Sutton Syndrome |
|
Aggressive behavior, Self-injurious behavior, Posteriorly rotated ears, Sensorineural hearing imp... |
ORPHA:468678 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Sensorineural hearing impairment, Ataxia, Hyperactivity |
ORPHA:760 |
| 7Q11.23 Microduplication Syndrome |
|
Aggressive behavior, Large earlobe, Overfolded helix, Low-set, posteriorly rotated ears, Self-inj... |
ORPHA:96121 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hand tremor, Hyperactivity |
ORPHA:424 |
| Brain-Lung-Thyroid Syndrome |
|
Dystonia, Intention tremor, Ataxia, Sensorineural hearing impairment, Falls, Hyperactivity |
ORPHA:209905 |
| Stankiewicz-Isidor Syndrome |
|
Hyperactivity, Hearing impairment, Abnormality of the optic disc |
OMIM:617516 |
| Argininemia |
|
Spastic gait, Irritability, Hyperactivity |
OMIM:207800 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Optic atrophy |
OMIM:617301 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hair-pulling, Hypsarrhythmia, Protruding ear, Irritability, Hyperactivity |
ORPHA:447997 |
| Hyperthyroidism, Nonautoimmune |
|
Hyperactivity |
OMIM:609152 |
| Gm1 Gangliosidosis Type 1 |
|
Hearing impairment, Exaggerated startle response, Macrotia |
ORPHA:79255 |
| Brooks-Wisniewski-Brown syndrome |
|
Posteriorly rotated ears, Cupped ear, Protruding ear, EEG abnormality, Hyperactivity, Optic atrophy |
OMIM:300612 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Posteriorly rotated ears, Exaggerated startle response, Optic atrophy |
OMIM:617527 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Self-mutilation, Orthostatic hypotension due to autonomic dysfunction, Abnormal emotion/affect be... |
ORPHA:642 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Optic atrophy |
OMIM:253800 |
| Wiedemann-Steiner Syndrome |
|
Anxiety, Low frustration tolerance, Aggressive behavior, Hyperactivity |
ORPHA:319182 |
| Tuberous Sclerosis Complex |
|
Aggressive behavior, Depression, Self-injurious behavior, Impulsivity, Anxiety, Hyperactivity, At... |
ORPHA:805 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Aggressive behavior, Conductive hearing impairment, Self-injurious behavior, Agoraphobia, Emotion... |
ORPHA:353281 |
| Mucopolysaccharidosis Type 2 |
|
Otosclerosis, Aggressive behavior, Conductive hearing impairment, Papilledema, Impulsivity, Senso... |
ORPHA:580 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Aggressive behavior, Conductive hearing impairment, Self-injurious behavior, Agoraphobia, Emotion... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Aggressive behavior, Conductive hearing impairment, Self-injurious behavior, Agoraphobia, Emotion... |
ORPHA:353277 |
| Fanconi Anemia, Complementation Group E |
|
Prolonged G2 phase of cell cycle |
OMIM:600901 |
| Fanconi Anemia, Complementation Group A |
|
Prolonged G2 phase of cell cycle |
OMIM:227650 |
| Fanconi Anemia, Complementation Group C |
|
Prolonged G2 phase of cell cycle |
OMIM:227645 |
| Fanconi Anemia, Complementation Group D2 |
|
Prolonged G2 phase of cell cycle |
OMIM:227646 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Inability to walk, Dystonia, Exaggerated startle response, Optic disc pallor, Broad-based gait |
ORPHA:438213 |
| Seckel Syndrome 7 |
|
Microtia |
OMIM:614851 |
| Microcephalic Primordial Dwarfism, Dauber Type |
|
Microtia |
ORPHA:319675 |
