| Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Depression, Attention deficit hyperactivity disorder |
OMIM:613003 |
| Porokeratosis Plantaris Palmaris Et Disseminata |
|
Hyperkeratotic papule, Pruritus, Palmoplantar hyperkeratosis |
ORPHA:737 |
| Severe Primary Trimethylaminuria |
|
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity |
ORPHA:468726 |
| Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections |
OMIM:244850 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Ichthyosis, Lamellar, Autosomal Dominant |
|
Hyperkeratosis, Pruritus |
OMIM:146750 |
| Porokeratosis Of Mibelli |
|
Hyperkeratosis, Pruritus |
ORPHA:735 |
| Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
| Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
| Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617756 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:616400 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Familial Reactive Perforating Collagenosis |
|
Inflammatory abnormality of the skin, Perifolliculitis, Maculopapular exanthema, Crusting erythem... |
ORPHA:79147 |
| Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617574 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Pruritus, Perifollicular hyperkeratosis |
ORPHA:505 |
| Palmoplantar Keratoderma-Deafness Syndrome |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:2202 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
| Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis |
OMIM:101850 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Continuous spike and waves ... |
OMIM:301008 |
| Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement |
|
Hyperkeratosis |
OMIM:270220 |
| Dermatoleukodystrophy |
|
Hyperkeratosis |
ORPHA:1659 |
| Epidermolysis Bullosa Dystrophica, Pretibial |
|
Hyperkeratosis, Pruritus |
OMIM:131850 |
| Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
| Cole Disease |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:615522 |
| Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
| Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
| Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Low-set ears, EEG abnormality, Hyperactivity |
ORPHA:436151 |
| Ichthyosis Hystrix Of Curth-Macklin |
|
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Recurrent skin infections |
ORPHA:79503 |
| Obsessive-Compulsive Disorder |
|
Depression, Anxiety, Skin-picking |
OMIM:164230 |
| Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
| Dystonia 11, Myoclonic |
|
Torticollis, Agoraphobia, Depression, Anxiety, Tremor, Writer's cramp |
OMIM:159900 |
| Peeling Skin Syndrome 5 |
|
Hyperkeratosis |
OMIM:617115 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior |
OMIM:619031 |
| Myoclonus-Dystonia Syndrome |
|
Torticollis, Depression, Anxiety, Panic attack, Writer's cramp, Personality disorder, Dystonia |
ORPHA:36899 |
| Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder |
OMIM:607417 |
| Pemphigus Vulgaris |
|
Acantholysis, Recurrent cutaneous abscess formation |
ORPHA:704 |
| Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Normal interictal EEG, Anxiety, Paroxysmal dystonia, Paroxysmal choreoathetosis |
OMIM:602066 |
| Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis |
OMIM:618531 |
| Superficial Epidermolytic Ichthyosis |
|
Palmoplantar keratoderma, Acantholysis, Edema |
ORPHA:455 |
| Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Hypsarrhythmia |
OMIM:619970 |
| Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Plantar hyperkeratosis, Pruritus |
OMIM:616487 |
| Darier-White Disease |
|
Acantholysis, Pruritus, Subungual hyperkeratotic fragments |
OMIM:124200 |
| Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Pruritus, Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:617571 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Orthokeratosis, Recurrent skin infections, Acantholysis, Erythroderma, Palmoplantar keratoderma, ... |
OMIM:615508 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Pruritus, Plantar hyperkeratosis, Hyperkeratosis, Palmar hyperkeratosis |
ORPHA:79399 |
| Parkinsonism With Polyneuropathy |
|
Resting tremor, Depression, Decreased motor nerve conduction velocity, Anxiety, Decreased amplitu... |
OMIM:619279 |
| Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Chronic furunculosis, Perifolliculitis, Acne inversa, Follicular hyperkeratosis, Recurrent cutane... |
OMIM:613736 |
| Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Hypsarrhythmia |
OMIM:617113 |
| Pandas |
|
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... |
ORPHA:66624 |
| Iga Pemphigus |
|
Pustule, Acantholysis, Pruritus, Cutaneous abscess, Neutrophilic infiltration of the skin |
ORPHA:555905 |
| Intellectual Developmental Disorder, Fra12A Type |
|
Erythroderma, Hyperkeratosis |
OMIM:136630 |
| Acquired Ichthyosis |
|
Palmoplantar keratoderma, Hyperkeratosis, Pruritus, Recurrent skin infections |
ORPHA:454 |
| Pemphigus Foliaceus |
|
Pustule, Acantholysis, Crusting erythematous dermatitis, Pruritus, Erythroderma, Psoriasiform der... |
ORPHA:79481 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Hyperactivity, Resting tremor, Tremor, Focal EEG discharg... |
ORPHA:3077 |
| Pemphigus Erythematosus |
|
Malar rash, Acantholysis |
ORPHA:79480 |
| Familial Benign Chronic Pemphigus |
|
Acantholysis, Hyperkeratosis |
ORPHA:2841 |
| Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Hyperactivity, Impulsivity, EEG with focal epileptiform discharges, Depression, EEG with generali... |
ORPHA:88616 |
| Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Erythroderma, Palmoplantar keratoderma, Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:615024 |
| Landau-Kleffner Syndrome |
|
EEG with frontal focal spikes, Hyperactivity, Impulsivity, Continuous spike and waves during slow... |
ORPHA:98818 |
| Hyperkeratosis Lenticularis Perstans |
|
Pruritus, Hyperkeratosis lenticularis perstans |
ORPHA:409 |
| Lennox-Gastaut Syndrome |
|
EEG abnormality, Hyperactivity, Aggressive behavior, EEG with focal sharp slow waves, Personality... |
ORPHA:2382 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... |
OMIM:616648 |
| Pityriasis Rubra Pilaris |
|
Pustule, Eczema, Subungual hyperkeratosis, Pruritus, Erythroderma, Palmoplantar keratoderma |
ORPHA:2897 |
| Insulin-Like Growth Factor I Deficiency |
|
Sensorineural hearing impairment, Hyperactivity |
OMIM:608747 |
| Non-Epidermolytic Palmoplantar Keratoderma |
|
Diffuse palmoplantar hyperkeratosis, Pruritus |
ORPHA:2337 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Acantholysis, Neonatal death |
OMIM:609638 |
| Hyperprolinemia, Type I |
|
EEG abnormality, Hyperactivity, Aggressive behavior |
OMIM:239500 |
| Fraxe Intellectual Disability |
|
Impulsivity, Prominent ear helix, Hyperactivity, Aggressive behavior |
ORPHA:100973 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Pruritis on hand, Eczematoid dermatitis, Pruritus on foot, Palmar pruritus, Pruritus, Pruritis on... |
ORPHA:64745 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Abnormal pinna morphology, Hyperactivity, Optic atrophy, Tremor, Aggressive behavior |
OMIM:300983 |
| Mannosidosis, Beta A, Lysosomal |
|
Hearing impairment, Hyperactivity, Aggressive behavior |
OMIM:248510 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Impulsivity, Hyperactivity, Aggressive behavior |
OMIM:604317 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Mohr-Tranebjaerg Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Optic atrophy, Tremor, Hyperactivity, Aggressive behavior |
OMIM:619470 |
| Skin Fragility-Woolly Hair Syndrome |
|
Acantholysis, Palmoplantar hyperkeratosis |
OMIM:607655 |
| Peeling Skin Syndrome 6 |
|
Pruritus, Orthokeratosis, Parakeratosis |
OMIM:618084 |
| Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis |
ORPHA:199267 |
| Hypotrichosis 6 |
|
Pruritus, Follicular hyperkeratosis |
OMIM:607903 |
| Glycine Encephalopathy |
|
Impulsivity, Hyperactivity, Aggressive behavior, Irritability |
OMIM:605899 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... |
OMIM:617519 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Impulsivity, Hyperactivity, Aggressive behavior |
OMIM:309548 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
EEG abnormality, Hyperactivity, Self-injurious behavior, Tremor, Low-set ears, Paroxysmal bursts ... |
OMIM:618718 |
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Erythroderma, Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis |
OMIM:133200 |
| Phenylketonuria |
|
Hyperactivity, Self-mutilation, Depression, Anxiety, Attention deficit hyperactivity disorder, Ag... |
OMIM:261600 |
| Lymphatic Malformation 4 |
|
Hyperkeratosis, Lymphedema |
OMIM:615907 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... |
ORPHA:320401 |
| Porokeratosis |
|
Hyperkeratosis, Pruritus |
ORPHA:79358 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Hyperactivity, Inappropriate behavior, EEG with generalized epileptiform... |
OMIM:619827 |
| Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Anxiety, Aggressive behavior, Macrotia, Low-set ears, Posteriorly rotated ears |
OMIM:609425 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Tremor, Choreoathetosis, Aggressive behavior, Dystonia |
OMIM:612716 |
| Aminoacylase 1 Deficiency |
|
Sensorineural hearing impairment, Hyperactivity |
OMIM:609924 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Self-injurious behavior, Hyperactivity, Athetosis, Aggressive behavior, Dystonia |
ORPHA:382 |
| Olmsted Syndrome 2 |
|
Palmoplantar hyperkeratosis, Perioral hyperkeratosis, Hyperkeratosis, Pruritus, Palmoplantar kera... |
OMIM:619208 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Optic atrophy, Hyperactivity, Macrotia |
OMIM:300928 |
| Hypotrichosis Simplex Of The Scalp |
|
Pruritus, Atopic dermatitis, Hyperkeratosis, Parakeratosis |
ORPHA:90368 |
| Warty Dyskeratoma |
|
Acantholysis |
ORPHA:69745 |
| Morm Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:75858 |
| Olmsted Syndrome 1 |
|
Palmoplantar keratoderma, Subungual hyperkeratosis, Pruritus, Parakeratosis |
OMIM:614594 |
| Bazex Syndrome |
|
Hyperkeratosis, Edema, Pruritus, Palmoplantar keratoderma, Parakeratosis |
ORPHA:166113 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Anxiety, Abnormality of superior crus of antihelix, Prominent crus of helix, Atten... |
OMIM:301013 |
| Lichen Planus Pemphigoides |
|
Hyperkeratosis, Pruritus |
ORPHA:254478 |
| Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Irritability... |
ORPHA:206443 |
| Rasmussen Subacute Encephalitis |
|
EEG with focal spikes, Hyperactivity, Irritability, Continuous spike and waves during slow sleep,... |
ORPHA:1929 |
| Psoriasis 2 |
|
Psoriasiform dermatitis, Hyperkeratosis, Parakeratosis |
OMIM:602723 |
| Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Seborrheic dermatitis |
OMIM:610227 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
| Coffin-Siris Syndrome 8 |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:618362 |
| Dystonia 26, Myoclonic |
|
Torticollis, Blepharospasm, Laryngeal dystonia, Depression, Anxiety, Dystonia |
OMIM:616398 |
| Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... |
OMIM:300918 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Attention deficit hyperactivity disorder, Bipolar affective disorder, Hyperactivity |
OMIM:619927 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment |
OMIM:125250 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
EEG abnormality, Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior |
OMIM:271980 |
| Xq25 Microduplication Syndrome |
|
Anxiety, Hyperactivity |
ORPHA:521258 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials |
OMIM:601455 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Tremor, Hyperactivity, Dystonia |
OMIM:615924 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Palmoplantar keratoderma, Hyperkeratosis, Pruritus, Parakeratosis |
OMIM:615821 |
| Lethal Acantholytic Erosive Disorder |
|
Acantholysis, Oligohydramnios |
ORPHA:158687 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Self-injurious behavior, Hyperactivity, Depression, Anxiety, Aggressive behavior |
OMIM:619467 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Tremor, Hyperactivity |
OMIM:618090 |
| Naxos Disease |
|
Diffuse palmoplantar hyperkeratosis, Subungual hyperkeratosis, Acantholysis, Hyperkeratosis, Palm... |
OMIM:601214 |
| Vohwinkel Syndrome, Variant Form |
|
Orthokeratosis, Hyperkeratosis, Parakeratosis |
OMIM:604117 |
| Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity, EEG with polyspike wave complexes |
OMIM:617169 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Anteverted ears, Hyperactivity, Aggressive behavior, Macrotia |
OMIM:615541 |
| Stiff Person Spectrum Disorder |
|
Agoraphobia, Anxiety, Exaggerated startle response, Emotional lability |
ORPHA:3198 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Happy demeanor, EEG abnormality, Hyperactivity, Inappropriate laughter |
ORPHA:411515 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Anxiety, Inappropriate beha... |
ORPHA:309246 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Acne inversa, Orthokeratosis, Hyperkeratosis |
OMIM:617337 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Cln5 Disease |
|
EEG with focal spikes, Hyperactivity, EEG with spike-wave complexes, Anxiety, Tremor, Aggressive ... |
ORPHA:228360 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
EEG abnormality, Impulsivity, Hyperactivity, Aggressive behavior, Dystonia |
ORPHA:500180 |
| Juvenile Huntington Disease |
|
Depression, Hyperactivity, Dystonia, Irritability |
ORPHA:248111 |
| Abcd Syndrome |
|
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... |
OMIM:600501 |
| Early-Onset Schizophrenia |
|
Impairment in personality functioning, Abnormal emotion/affect behavior, Depression, Anxiety, Low... |
ORPHA:96369 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Heari... |
OMIM:601596 |
| Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Erythroderma, Orthokeratosis, Hyperkeratosis |
OMIM:615023 |
| Myoclonic-Astatic Epilepsy |
|
Hyperactivity, EEG with focal spike waves, EEG with polyspike wave complexes, Abnormal emotion/af... |
ORPHA:1942 |
| Chromosome Xq25 Duplication Syndrome |
|
Anxiety, Hyperactivity |
OMIM:300979 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Impulsivity, Anxiety, Hyperactivity, Aggressive behavior |
ORPHA:101039 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
EEG with focal spikes, Self-injurious behavior, Hyperactivity, Depression, Anxiety, Aggressive be... |
ORPHA:485350 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Orthokeratosis, Hyperkeratosis, Erythroderma, Palmoplantar keratoderma, Parakeratosis |
OMIM:612281 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response, EEG with temporal focal spikes |
ORPHA:163985 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Sensorineural hearing impairment, Protruding ear, Hyperactivity, Tremor, Attention deficit hypera... |
OMIM:618342 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hearing impairment, Hyperactivity, Aggressive behavior |
ORPHA:457260 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Anxiety, Hyperactivity, Aggressive behavior, Macrotia |
OMIM:300558 |
| Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Optic atrophy, Hearing impairment, Hyperactivity, Aggressive behavior |
ORPHA:369939 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Impulsivity, Uplifted earlobe, Hyperactivity |
OMIM:300143 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Self-mutilation |
OMIM:615516 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment, Temporal op... |
ORPHA:1215 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
EEG with focal spikes, Skin-picking, Hyperactivity, Self-mutilation, EEG with generalized epilept... |
ORPHA:163681 |
| Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials |
OMIM:201050 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
EEG with photoparoxysmal response, Hyperactivity, EEG with spike-wave complexes, EEG with general... |
ORPHA:168491 |
| Stiff-Person Syndrome |
|
Agoraphobia, Exaggerated startle response, Opisthotonus, Depression, Anxiety |
OMIM:184850 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Head titubation, Vestibular areflexia |
ORPHA:3240 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
| Developmental And Epileptic Encephalopathy 103 |
|
Hyperactivity, Opisthotonus, EEG with polyspike wave complexes, Continuous spike and waves during... |
OMIM:619913 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Sensorineural hearing impairment, Action tremor, Abnormal autonomic nervous system physiology, In... |
ORPHA:99027 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Opisthotonus, Inappropriate crying, Irritability, Optic atro... |
ORPHA:206436 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... |
OMIM:608643 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Cerebrotendinous Xanthomatosis |
|
Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Resting ... |
ORPHA:909 |
| Stevens-Johnson Syndrome |
|
Acantholysis |
ORPHA:36426 |
| Infantile Neuroaxonal Dystrophy |
|
Hyperactivity, Impulsivity, Abnormal autonomic nervous system physiology, Optic atrophy, Emotiona... |
ORPHA:35069 |
| Toxic Epidermal Necrolysis |
|
Acantholysis |
ORPHA:537 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity, Hypsarrhythmia, EEG with burst suppression |
OMIM:619239 |
| Adenylosuccinase Deficiency |
|
Happy demeanor, Hyperactivity, Opisthotonus, Self-mutilation, Aggressive behavior, Inappropriate ... |
OMIM:103050 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:619260 |
| X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Aganglionic megacolon, Self-mutilation, Athetosis, Dystonia |
ORPHA:52503 |
| X-Linked Adrenoleukodystrophy |
|
Inappropriate sexual behavior, Hyperactivity, Progressive hearing impairment, Attention deficit h... |
ORPHA:43 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Hyperactivity, Depression, Anxiety, Attention deficit hyperactivity diso... |
ORPHA:449291 |
| Pitt-Hopkins-Like Syndrome 1 |
|
EEG abnormality, Hyperactivity, Aggressive behavior |
OMIM:610042 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Macrotia |
OMIM:618504 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Decreased nerve conduction... |
ORPHA:101085 |
| Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Irritability |
OMIM:275000 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability, Macrotia |
ORPHA:391307 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Happy demeanor, EEG abnormality, Hyperactivity, EEG with abnormally slow frequencies, Tremor, Ina... |
ORPHA:98794 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Self-biting |
OMIM:618314 |
| Tay-Sachs Disease |
|
Apathy, Exaggerated startle response |
OMIM:272800 |
| Arthrogryposis, Distal, Type 2A |
|
Hearing impairment, Abnormal auditory evoked potentials |
OMIM:193700 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity |
OMIM:617600 |
| Adult Krabbe Disease |
|
EEG abnormality, Prolonged brainstem auditory evoked potentials |
ORPHA:206448 |
| Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Apathy, Exaggerated startle response |
OMIM:272750 |
| Mucopolysaccharidosis, Type Iiib |
|
Hearing impairment, Hyperactivity, Aggressive behavior |
OMIM:252920 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Hyperactivity, Abnormal autonomic nervous system physiology, Self-mutilation, Postural hypotensio... |
OMIM:256800 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic atrophy, Optic disc pallor, Exaggerated startle response |
OMIM:609541 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Impulsivity, Intention tremor, Optic atrophy, Emotional lability, Dystonia |
OMIM:610217 |
| Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic atrophy, Optic disc pallor, Exaggerated startle response |
ORPHA:320406 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Optic atrophy, Tremor, Macrotia, Abnormality of peripheral n... |
ORPHA:90321 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... |
OMIM:609136 |
| Mend Syndrome |
|
Low-set ears, Hyperactivity, Aggressive behavior, Abnormal auditory evoked potentials |
ORPHA:401973 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, External ear malformation, Exaggerated startle response, Anxiety |
ORPHA:438216 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Xerostomia, Acantholysis, Inflammatory abnormality of the skin, Skin rash |
ORPHA:95455 |
| Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Hypsarrhythmia, Macrotia |
OMIM:615574 |
| Tay-Sachs Disease |
|
Exaggerated startle response, Laryngeal dystonia, Depression, Anxiety, Optic atrophy, Tremor, Hea... |
ORPHA:845 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Low-set, posteriorly rotated ears |
OMIM:618598 |
| Mogs-Cdg |
|
Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment, Dystonia |
ORPHA:79330 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
| Trisomy 10P |
|
EEG with focal spikes, Low voltage EEG, EEG with burst suppression, Abnormal auditory evoked pote... |
ORPHA:171929 |
| Choreoacanthocytosis |
|
Laryngeal dystonia, Limb dystonia, Emotional lability, Hyperactivity, Self-injurious behavior, Re... |
ORPHA:2388 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Cockayne Syndrome B |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Decreased nerve conduction velocity,... |
OMIM:133540 |
| Cockayne Syndrome A |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Decreased nerve conduction velocity,... |
OMIM:216400 |
| Early Infantile Epileptic Encephalopathy |
|
EEG abnormality, Hyperactivity, EEG with spike-wave complexes, Self-injurious behavior, EEG with ... |
ORPHA:1934 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Sensorineural hearing impairment, Exaggerated startle response, Low-set, posteriorly rotated ears... |
ORPHA:521426 |
| Microcephaly 29, Primary, Autosomal Recessive |
|
Hyperactivity, Emotional lability |
OMIM:620047 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Optic atrophy, Low-set ears, Exaggerated startle response |
OMIM:617301 |
| Familial Gestational Hyperthyroidism |
|
Hyperactivity, Hand tremor |
ORPHA:99819 |
| Sandhoff Disease |
|
Orthostatic hypotension, Exaggerated startle response |
OMIM:268800 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Protruding ear, Hyperactivity, Irritability, Hypsarrhythmia, Low-set ears, Hair-pulling |
ORPHA:447997 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Hand tremor |
ORPHA:424 |
| Gm1 Gangliosidosis Type 1 |
|
Hearing impairment, Low-set ears, Exaggerated startle response, Macrotia |
ORPHA:79255 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Blepharospasm, Hyperactivity, Depression, Optic atrophy, Tremor, Choreoathetosis, Dystonia |
OMIM:234200 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Optic atrophy, Low-set ears, Posteriorly rotated ears, Exaggerated startle response |
OMIM:617527 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Optic atrophy, Exaggerated startle response |
OMIM:253800 |
| 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 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Microtia, Small earlobe, Attention deficit hyperactivity disorder, ... |
OMIM:619522 |
| Fanconi Anemia, Complementation Group D2 |
|
Prolonged G2 phase of cell cycle |
OMIM:227646 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Dystonia |
ORPHA:438213 |
| Seckel Syndrome 7 |
|
Microtia |
OMIM:614851 |
| Microcephalic Primordial Dwarfism, Dauber Type |
|
Microtia |
ORPHA:319675 |
