Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Autism, Susceptibility To, X-Linked 4 |
|
Motor tics, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior |
OMIM:300830 |
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder |
OMIM:613003 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Compulsive behaviors |
OMIM:618830 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Carbimazole Sensitivity |
|
Drug-induced agranulocytosis |
OMIM:212060 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder |
OMIM:607417 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Unsteady gait, Impaired ability to form peer relationships, Impaired social... |
OMIM:608636 |
Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Gait ataxia, Shyness, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:618221 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Autism, Susceptibility To, 8 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:607373 |
Autism |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:209850 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Abnormal repetitive mannerisms, Impaired social interactions |
OMIM:606053 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Dystonia, Ataxia, Aggressive behavior, Chorea, Falls, Inappropriate laughter, Bruxism, Abnormal r... |
OMIM:619150 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L... |
ORPHA:98807 |
Glutathione Synthetase Deficiency |
|
Neutropenia, Hemolytic anemia, Ataxia, Intention tremor |
OMIM:266130 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Inability to walk, Self-injurious behavior, Impaired social interactions, Dystonia, Abnormal repe... |
OMIM:617820 |
Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei |
OMIM:310350 |
N-Acetylaspartate Deficiency |
|
Broad-based gait, Unsteady gait, Truncal ataxia, Decreased body weight, Abnormal repetitive manne... |
OMIM:614063 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300425 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Emotional lability, Agitation, Aggressive behavior |
OMIM:617171 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Broad-based gait, Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetiti... |
OMIM:617862 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:617270 |
Pick Disease Of Brain |
|
Polyphagia, Irritability, Disinhibition, Inappropriate laughter, Emotional blunting, Abnormal rep... |
OMIM:172700 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ... |
ORPHA:3077 |
Hereditary Geniospasm |
|
Abnormal social behavior, Intention tremor |
ORPHA:53372 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618709 |
Hyperlysinemia, Type I |
|
Hyperactivity, Anemia |
OMIM:238700 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Ataxia, Thrombocytopenia, Unsteady gait, Dysmetria, Acute myelomonocytic leukemia, ... |
OMIM:159550 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Tremor, Hyperactivity, Limb dystonia, Aggressive behavior |
OMIM:620270 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Aggressive behavior, Tremor, Abnormal repetitive mannerisms |
OMIM:619470 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Irritability, Inappropria... |
ORPHA:275864 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive m... |
OMIM:618718 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Small for gestational age, Aggressive behavior, Gait ataxia, Failure to thrive, Ab... |
OMIM:609425 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... |
OMIM:613670 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
Foxg1 Syndrome |
|
Dystonia, Inability to walk, Choreoathetosis, Difficulty walking, Bruxism, Impaired social intera... |
ORPHA:561854 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Phonic tics, Compulsive behaviors, Dystonia |
OMIM:301107 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Gait disturbance, Dysto... |
OMIM:600795 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior |
OMIM:239500 |
Hartnup Disorder |
|
Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... |
ORPHA:168782 |
Folate Malabsorption, Hereditary |
|
Ataxia, Folate-responsive megaloblastic anemia, Athetosis, Leukopenia, Neutropenia, Thrombocytopenia |
OMIM:229050 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability |
OMIM:605899 |
Hsd10 Disease |
|
Short attention span, Ataxia, Choreoathetosis, Gait disturbance, Dysphagia, Abnormal social behavior |
ORPHA:391417 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Waddling gait, Shyness, Overweight, Difficulty walking, Dystonia, Abnormal repetitive mannerisms |
ORPHA:280763 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Irritability, Failure to thrive, Abnormal repetitive mannerisms, Difficulty walking |
OMIM:617393 |
Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Short attention span, Attention deficit hyperactivity disorder, Abnormal social behavior, Compuls... |
ORPHA:444002 |
Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Aggressive behavior, Tremor, Choreoathetosis, Dystonia |
OMIM:612716 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Baker-Gordon Syndrome |
|
Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, Dystonia, Abnormal repetitiv... |
OMIM:618218 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Ataxia, Small for gestational age, Failure to thrive in infancy, Gait disturbance,... |
OMIM:614104 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Confusion, Dementia, Agitation, Disinhibition, Semantic dementia, Memory impairment, Abno... |
ORPHA:1020 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Disinhibition, Dysphagia, Emotional lability, Abnormal repetitive ... |
OMIM:612069 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Abnormal repetitive mannerisms |
OMIM:617830 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Inability to walk, Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Dystonia, ... |
OMIM:618917 |
Christianson Syndrome |
|
Dystonia, Cachexia, Dysphagia, Gait ataxia, Inappropriate laughter, Truncal ataxia, Abnormal repe... |
ORPHA:85278 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Dys... |
ORPHA:309246 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Pontocerebellar Hypoplasia, Type 11 |
|
Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Self-injurious behavior, Attention defi... |
OMIM:617695 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Dystonia, Ataxia, Aggressive behavior, Tremor, Chorea, Depression, Impaired social interactions, ... |
OMIM:619738 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... |
ORPHA:101039 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Athetosis, Dystonia |
ORPHA:382 |
Developmental And Epileptic Encephalopathy 107 |
|
Abnormal repetitive mannerisms |
OMIM:620033 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Ataxia, Neutropenia |
OMIM:616949 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia |
OMIM:615285 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Tremor, Hyperactivity, Dystonia |
OMIM:615924 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia, Dystonia |
OMIM:619302 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia, Dystonia |
OMIM:619301 |
Lopes-Maciel-Rodan Syndrome |
|
Dystonia, Tremor, Unsteady gait, Bruxism, Agitation, Dysphagia, Abnormal repetitive mannerisms |
OMIM:617435 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def... |
OMIM:261600 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Xq28 (MECP2) duplication |
|
Inability to walk, Gait ataxia, Depression, Dysphagia, Failure to thrive, Abnormal repetitive man... |
DECIPHER:45 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... |
OMIM:614470 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615282 |
Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300495 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting, Gait ataxia, Chore... |
OMIM:619580 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608049 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Aggressive behavior, Tremor, Attention deficit hyperactivity disorder, Bruxism, De... |
OMIM:618342 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Bruxism, Dysphagia, Weight loss, Blepharospasm, Depression, Li... |
ORPHA:93958 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Shyness, Depression, Self-injurious behavior, Irritability, A... |
ORPHA:449291 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Parox... |
ORPHA:228402 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal social behavior, Abnormal repetitive ma... |
ORPHA:530983 |
Developmental And Epileptic Encephalopathy 6B |
|
Ataxia, Inability to walk, Chorea, Choreoathetosis, Dystonia, Abnormal repetitive mannerisms |
OMIM:619317 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Tremor, Overweight, Depression, Gait disturbance, Abnormal repetitive mannerisms, Self-mutilation |
ORPHA:457240 |
Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb... |
OMIM:226990 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Chorea, Attention deficit hyperactivity disorder, Dystonia, Abnormal repe... |
OMIM:619725 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Small for gestational age, Repetitive compulsive behavior, Compulsive behaviors, A... |
ORPHA:352490 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Impaired so... |
OMIM:610042 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Neutropenia, Absent circulating B cells, Abnormal T cell morphology |
OMIM:613501 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618906 |
Developmental And Epileptic Encephalopathy 30 |
|
Abnormal repetitive mannerisms |
OMIM:616341 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Dystonia, Choreoathetosis, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:289916 |
Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:619690 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Abnormal repetitive mannerisms |
OMIM:619092 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia |
OMIM:603552 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior |
OMIM:615516 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention deficit hyperactivity disord... |
OMIM:620242 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Abnormal repetitive mannerisms, Chorea, Attention deficit hyperactivity disorder, ... |
OMIM:617600 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Dystonia, Splenomegaly, Choreoathetosis, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:79312 |
Immunodeficiency 46 |
|
Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Pain insensitivity, Aggressive behavior, Obesity, Self-injurious behavior, Skin-pi... |
OMIM:600430 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Pain insensitivity, Ataxia, Repetitive compulsive behavior, Inability to walk, Chorea, Bruxism, D... |
OMIM:300260 |
Galloway-Mowat Syndrome 6 |
|
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Decreased body weight |
OMIM:618347 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Smith-Magenis Syndrome |
|
Hyperactivity, Impaired pain sensation, Self hugging, Increased body weight, Head-banging, Onycho... |
OMIM:182290 |
Rett Syndrome, Congenital Variant |
|
Dystonia, Chorea, Tongue thrusting, Athetosis, Irritability, Impaired social interactions, Bruxis... |
OMIM:613454 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Reduction of neutrophil motility |
OMIM:266265 |
Choreoacanthocytosis |
|
Chorea, Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Impaired vib... |
ORPHA:2388 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
48,Xxyy Syndrome |
|
Ataxia, Tremor, Obesity, Depression, Attention deficit hyperactivity disorder, Abnormal repetitiv... |
ORPHA:10 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... |
OMIM:150550 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Depressi... |
ORPHA:33543 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Ataxia, Agitation, Emotional lability, Failure to thrive, Abnormal repetitive mannerisms |
ORPHA:927 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Broad-based gait, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absen... |
OMIM:619705 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Broad-based gait, Dystonia, Aggressive behavior, Gait disturbance, Attention deficit hyperactivit... |
OMIM:300352 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Failure to thrive, Ataxia, Aggressive behavior, Bulimia, Self-biting, Stereotypica... |
OMIM:300912 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Pain insensitivity, Aggressive behavior, Attention deficit hyperactivity disorder, Obsessive-comp... |
OMIM:618825 |
Developmental And Epileptic Encephalopathy 64 |
|
Paroxysmal dystonia, Dystonia, Inability to walk, Chorea, Self-injurious behavior, Bruxism, Abnor... |
OMIM:618004 |
Shukla-Vernon Syndrome |
|
Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Abn... |
OMIM:301029 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
Metachromatic Leukodystrophy, Adult Form |
|
Short attention span, Chorea, Progressive psychomotor deterioration, Depression, Memory impairmen... |
ORPHA:309271 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia, Abnormal T cell morphology |
OMIM:613502 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Failure to thrive, Ataxia, Aggressive behavior, Self-injurious behavior, Gait disturbance, Attent... |
OMIM:300986 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
Bilateral Generalized Polymicrogyria |
|
Oculogyric crisis, Oral-pharyngeal dysphagia, Self-injurious behavior, Dystonia, Abnormal repetit... |
ORPHA:208447 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde... |
ORPHA:3226 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dystonia, Obesity, Choreoathetosis, Impaired social interactions, Attention deficit hyperactivity... |
ORPHA:261197 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Paroxysmal dystonia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, De... |
ORPHA:98784 |
Childhood Absence Epilepsy |
|
Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression |
ORPHA:64280 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Obesity, Compulsive behaviors, Abnormal repetitive ma... |
OMIM:618430 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
Potocki-Lupski Syndrome |
|
Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Failure to thrive, Abnormal ... |
OMIM:610883 |
Rett Syndrome |
|
Inability to walk, Gait disturbance, Agitation, Difficulty walking, Dystonia, Failure to thrive, ... |
ORPHA:778 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Broad-based gait, Gait ataxia, Difficulty walking, Dystonia, Abnormal repetitive mannerisms |
OMIM:617807 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... |
OMIM:620292 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Gait disturbance, Low frustration ... |
ORPHA:168491 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
Whim Syndrome 1 |
|
Neutropenia |
OMIM:193670 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Small for gestational age, Overweight, Pica, Irritability, Obsessive-compulsive tr... |
OMIM:617796 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia |
OMIM:606843 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Irritability, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
ORPHA:391307 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Depression, Dysphagia, Loss of ambulation, Emotional lability, Abnormal repetitive mannerisms |
ORPHA:79264 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... |
ORPHA:100924 |
48,Xxxy Syndrome |
|
Tremor, Obesity, Irritability, Attention deficit hyperactivity disorder, Abnormal social behavior... |
ORPHA:96263 |
Cri-Du-Chat Syndrome |
|
Hyperactivity, Small for gestational age, Aggressive behavior, Difficulty walking, Abnormal repet... |
OMIM:123450 |
Hemochromatosis, Type 3 |
|
Lymphopenia, Anemia, Neutropenia |
OMIM:604250 |
Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615637 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Short attention span, Progressive psychomotor deterioration, Progressive gait ataxia, Emotional l... |
ORPHA:309263 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Gait ataxia, Progressive gait ataxia, Tip-toe gait, Dystonia, Emotional lability, Abnormal social... |
ORPHA:309256 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Ataxia, Abnormal dense granules, Tremor, Thrombocytope... |
OMIM:214500 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
OMIM:617044 |
4Q21 Microdeletion Syndrome |
|
Tremor, Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:238750 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
Radio-Tartaglia Syndrome |
|
Ataxia, Impulsivity, Aggressive behavior, Tremor, Obesity, Gait imbalance, Attention deficit hype... |
OMIM:619312 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... |
ORPHA:158057 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... |
OMIM:618986 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Ataxia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Pain insensitivity, Aggressive behavior, Tremor, Self-injurious behavior, Compulsive behaviors, D... |
OMIM:617061 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Gait ataxia, Impaired pain sensation, Abnormal repetitive mannerisms, Overfriendliness |
OMIM:616579 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia |
OMIM:619644 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Abnormal repetitive mannerisms, Low frustration tolerance, Attention deficit hyperactivity disord... |
OMIM:619293 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... |
ORPHA:3202 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Positive Romberg sign, Cerebellar hypoplas... |
ORPHA:314647 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Aggressive behavior, Scissor gait, Dysmetria, Attention deficit hyperactivity disorder, Truncal a... |
OMIM:619121 |
Ritscher-Schinzel Syndrome 4 |
|
Ataxia, Impulsivity, Aggressive behavior, Chorea, Athetosis, Dysphagia, Abnormal repetitive manne... |
OMIM:619435 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Gait ataxia, Low frustration tolerance, Abnormal repetitive mannerisms, Self-mutil... |
OMIM:300486 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... |
ORPHA:313892 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutropenia, Thromb... |
OMIM:308240 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ... |
OMIM:616393 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Torticollis, Inability to walk, Delayed early-childhood social milestone developm... |
ORPHA:300570 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Abnormal repetitive mannerisms, Ataxia, Head tremor |
OMIM:619428 |
Coffin-Siris Syndrome 6 |
|
Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder |
OMIM:617808 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Self-biting |
ORPHA:3306 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia |
OMIM:617475 |
White-Sutton Syndrome |
|
Waddling gait, Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Irritability... |
OMIM:616364 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Ataxia, Attention deficit hyperactivity disorder, Impaired social interactions, Compulsive behavi... |
OMIM:615656 |
Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia |
OMIM:607676 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Aggressive behavior, Tremor, Gait ataxia, Attention deficit hyperactivity disorder, Compulsive be... |
ORPHA:476126 |
Developmental And Epileptic Encephalopathy 66 |
|
Broad-based gait, Anemia, Neutropenia |
OMIM:618067 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Neutropenia, Agra... |
OMIM:301078 |
Immunodeficiency 7 |
|
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Neutropenia |
OMIM:615387 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Inability to walk, Abnormal repetitive mannerisms |
OMIM:613443 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor... |
ORPHA:98850 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Inability to walk, Abnormal repetitive mannerisms |
ORPHA:411986 |
Relapsing Fever |
|
Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:91547 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, N... |
ORPHA:572 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:88 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia |
ORPHA:2643 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Loss of ambulation, Craniofacial dystonia, Neutropenia |
OMIM:618253 |
Smith-Magenis Syndrome |
|
Failure to thrive in infancy, Impaired pain sensation, Obesity, Self-injurious behavior, Gait dis... |
ORPHA:819 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Anemia |
ORPHA:54251 |
Niemann-Pick Disease Type C |
|
Ataxia, Progressive neurologic deterioration, Aggressive behavior, Chorea, Mental deterioration, ... |
ORPHA:646 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Hijazi-Reis Syndrome |
|
Abnormal repetitive mannerisms, Gait disturbance |
OMIM:301094 |
Griscelli Syndrome Type 2 |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Inability to walk, Abnormal repetitive mannerisms |
OMIM:619877 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Abnormal repetitive mannerisms |
ORPHA:85277 |
Chromosome 5P13 Duplication Syndrome |
|
Small for gestational age, Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive be... |
OMIM:613174 |
Coffin-Siris Syndrome 7 |
|
Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors |
OMIM:618027 |
Developmental Delay, Hypotonia, And Impaired Language |
|
Ataxia, Neutropenia |
OMIM:620012 |
Phelan-Mcdermid Syndrome |
|
Broad-based gait, Aggressive behavior, Impaired pain sensation, Unsteady gait, Tongue thrusting, ... |
OMIM:606232 |
3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Tremor, Neutropenia, Opisthotonus, Choreoathetosis, Leukopenia, Dystonia, Thrombocytopenia |
OMIM:616271 |
Den Hoed-De Boer-Voisin Syndrome |
|
Ataxia, Tremor, Inability to walk, Overweight, Obesity, Agitation, Dysphagia, Decreased body weig... |
OMIM:619229 |
Alazami Syndrome |
|
Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh... |
ORPHA:319671 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Ataxia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia |
OMIM:275350 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Neutropenia |
OMIM:617056 |
Snijders Blok-Campeau Syndrome |
|
Broad-based gait, Unsteady gait, Abnormal repetitive mannerisms, Attention deficit hyperactivity ... |
OMIM:618205 |
Propionic Acidemia |
|
Pancytopenia, Dystonia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:606054 |
Barth Syndrome |
|
Cyclic neutropenia, Hypochromic microcytic anemia, Gait disturbance, Granulocytopenia, Neutropenia |
OMIM:302060 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Tics, Compulsive behaviors, Decreased body weight, Abnormal repetitive mannerisms, Intention trem... |
OMIM:619475 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia |
ORPHA:1302 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:617751 |
5Q14.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:228384 |
Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia |
OMIM:614204 |
Fg Syndrome Type 1 |
|
Broad-based gait, Abnormal cerebellum morphology, Compulsive behaviors, Attention deficit hyperac... |
ORPHA:93932 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618504 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ataxia, Aggressive behavior, Unsteady gait, Low frustration tolerance, Abnormal temper tantrums, ... |
ORPHA:457279 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Broad-based gait, Abnormal repetitive mannerisms, Bruxism |
OMIM:616351 |
Houge-Janssens Syndrome 3 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618354 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Failure to thrive, Abnormal repetitive mannerisms, Inappropriate laughter |
OMIM:615802 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... |
ORPHA:101096 |
Acute Generalized Exanthematous Pustulosis |
|
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia |
ORPHA:293173 |
Pgm3-Cdg |
|
Hemolytic anemia, Ataxia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4... |
ORPHA:443811 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,... |
OMIM:304790 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Impulsivity, Aggressive behavior |
OMIM:618914 |
Cystinosis |
|
Polydipsia, Failure to thrive, Abnormal repetitive mannerisms, Gait disturbance |
ORPHA:213 |
3-Methylglutaconic Aciduria Type 7 |
|
Choreoathetosis, Neutropenia, Infection associated neutropenia, Opisthotonus |
ORPHA:445038 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Hair-pulling, Irritability, Dysphagia, Abnormal repetitive mannerisms |
ORPHA:447997 |
Trichotillomania |
|
Hair-pulling, Compulsive behaviors |
OMIM:613229 |
Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Neutrophilia |
ORPHA:1930 |
Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Ataxia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis... |
ORPHA:158048 |
Adult-Onset Still Disease |
|
Splenomegaly, Leukocytosis, Neutrophilia |
ORPHA:829 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:398124 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
Staphylococcal Necrotizing Pneumonia |
|
Leukopenia, Leukocytosis, Neutrophilia |
ORPHA:36238 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia |
OMIM:619752 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Inability to walk, Abnormal repetitive mannerisms, Dysphagia |
OMIM:617802 |
Rauch-Steindl Syndrome |
|
Hyperactivity, Failure to thrive, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:619695 |
3P25.3 Microdeletion Syndrome |
|
Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
ORPHA:435638 |
22Q11.2 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:1727 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Pancytopenia, Ataxia, Tremor, Inability to walk, Thrombocytopenia,... |
ORPHA:167 |
Letterer-Siwe Disease |
|
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly |
OMIM:246400 |
Macrophage Activation Syndrome |
|
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc... |
ORPHA:158061 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells |
OMIM:617099 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Broad-based gait, Pain insensitivity, Aggressive behavior, Hair-pulling, Polyphagia,... |
OMIM:620330 |
Macrocephaly-Developmental Delay Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:397612 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Abnormal repetitive mannerisms |
ORPHA:500159 |
Prader-Willi Syndrome Due To Translocation |
|
Obesity, Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive behaviors, Attention de... |
ORPHA:177907 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms, Limb dystonia |
ORPHA:457351 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Frequent temper tantrums, Attention deficit hyperactivity disorder, Abnormal repetitive mannerism... |
OMIM:619103 |
7Q11.23 Microduplication Syndrome |
|
Hyperactivity, Collectionism, Aggressive behavior, Unsteady gait, Polyphagia, Obesity, Dysmetria,... |
ORPHA:96121 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia |
ORPHA:292 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Aggressive behavior, Unsteady gait, Failure to thrive, Abnormal repetitive mannerisms, Self-mutil... |
OMIM:212066 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Choreoathetosis, Dystonia, Abnormal ... |
ORPHA:522077 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Normochromic anemia, Thrombocytopenia, Neutropenia |
OMIM:614857 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Dystonia, Acanthocytosis, Tremor, Phonic tics, Depression, Choreoathetosis, Blepha... |
OMIM:234200 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Lymphopenia, Neutropenia |
OMIM:614868 |
Japanese Encephalitis |
|
Neutrophilia, Tremor, Opisthotonus, Choreoathetosis, Pill-rolling tremor, Dystonia |
ORPHA:79139 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620073 |
Pneumocystosis |
|
Abnormal neutrophil count |
ORPHA:723 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Schimke Immunoosseous Dysplasia |
|
Waddling gait, Pancytopenia, Thrombocytopenia, Abnormal T cell morphology, Neutropenia, Lymphopen... |
OMIM:242900 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Agitation, Hand tremor |
ORPHA:99819 |
2Q37 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Obesity, Compulsive beh... |
ORPHA:1001 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Waddling gait, Neutropenia, Difficulty walking, Microcytic anemia |
OMIM:251900 |
Kleefstra Syndrome 1 |
|
Abnormal repetitive mannerisms, Obesity, Compulsive behaviors, Aggressive behavior |
OMIM:610253 |
Immunodeficiency 23 |
|
Hemolytic anemia, Ataxia, Abscess, Eosinophilia, Neutropenia, Lymphopenia |
OMIM:615816 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia |
ORPHA:520 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Thrombocytopenia, Anemia, Neutropenia |
ORPHA:47 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormal repetitive mannerisms, Dysphagia |
ORPHA:572013 |
Joubert Syndrome 6 |
|
Abnormal repetitive mannerisms, Ataxia |
OMIM:610688 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Splenomegaly, Neutrophilia, Abscess |
OMIM:612852 |
Methylmalonic Aciduria, Cbla Type |
|
Pancytopenia, Tremor, Anemia, Neutropenia, Thrombocytopenia |
OMIM:251100 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Choreoathetosis, Neutropenia, Ataxia, Dystonia |
OMIM:615471 |
Niemann-Pick Disease, Type C2 |
|
Dystonia, Abnormal repetitive mannerisms, Ataxia, Dysphagia |
OMIM:607625 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Leukopenia, Thrombocytopenia, Neutropenia |
OMIM:251000 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia |
ORPHA:2169 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Dystonia, Abnormal repetitive mannerisms, Ataxia, Dysphagia |
ORPHA:496641 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Agitation, Hand tremor |
ORPHA:424 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:529965 |
Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Leukocytosis, Chronic lymphatic leukemia, Anemia, Sterile a... |
ORPHA:3243 |
Felty Syndrome |
|
Splenomegaly, Anemia, Neutropenia, Abnormal lymphocyte morphology, Thrombocytopenia |
ORPHA:47612 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Overweight, Head-banging, Self-injurious behavior, Attention deficit hyperactivity disorder, Freq... |
OMIM:619575 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Obesity, Truncal obesity, Irritability, C... |
OMIM:615873 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Anemia, Neutropenia |
OMIM:614520 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Impaired pain sensation, Attention deficit hyperactivity disorder, Decreased body weight, Abnorma... |
OMIM:619005 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
Megalocornea-Intellectual Disability Syndrome |
|
Abnormal repetitive mannerisms, Ataxia |
ORPHA:2479 |
Wiedemann-Steiner Syndrome |
|
Hyperactivity, Aggressive behavior, Low frustration tolerance, Dysphagia, Failure to thrive, Abno... |
ORPHA:319182 |
White-Sutton Syndrome |
|
Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive behaviors, Abnor... |
ORPHA:468678 |
Mucopolysaccharidosis-Plus Syndrome |
|
Inability to walk, Thrombocytopenia, Splenomegaly, Leukopenia, Neutropenia, Anemia |
OMIM:617303 |
Diamond-Blackfan Anemia 11 |
|
Anemia of inadequate production, Neutropenia |
OMIM:614900 |
Nmda Receptor Encephalitis |
|
Oculogyric crisis, Hypersexuality, Chorea, Opisthotonus, Choreoathetosis, Depression, Agitation, ... |
ORPHA:217253 |
Transketolase Deficiency |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
ORPHA:488618 |
Cohen Syndrome |
|
Leukopenia, Neutropenia |
OMIM:216550 |
Pilarowski-Bjornsson Syndrome |
|
Abnormal repetitive mannerisms |
OMIM:617682 |
Bainbridge-Ropers Syndrome |
|
Inability to walk, Self-injurious behavior, Recurrent hand flapping, Failure to thrive, Abnormal ... |
OMIM:615485 |
Leukocyte Adhesion Deficiency Type Ii |
|
Neutrophilia, Ataxia, Microcytic anemia, Leukocytosis, Impaired tandem gait, Anemia |
ORPHA:99843 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Leukopenia, Neutropenia, Thrombocytopenia |
OMIM:613989 |
Wolcott-Rallison Syndrome |
|
Iron deficiency anemia, Lymphocytosis, Difficulty walking, Neutropenia |
ORPHA:1667 |
Hermansky-Pudlak Syndrome 10 |
|
Splenomegaly, Neutropenia, Dystonia |
OMIM:617050 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353281 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia |
ORPHA:540 |
Tuberous Sclerosis Complex |
|
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Depression, Self... |
ORPHA:805 |
Autosomal Agammaglobulinemia |
|
Neutropenia |
ORPHA:33110 |
Methylmalonic Aciduria, Cblb Type |
|
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia |
OMIM:251110 |
Kleefstra Syndrome |
|
Aggressive behavior, Obesity, Self-injurious behavior, Abnormal repetitive mannerisms, Self-mutil... |
ORPHA:261494 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Abnormal repetitive mannerisms |
ORPHA:261144 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Neutropenia |
OMIM:616395 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Monosomy 22Q13.3 |
|
Hyperactivity, Impaired pain sensation, Hair-pulling, Obesity, Bruxism |
ORPHA:48652 |
Schimke Immuno-Osseous Dysplasia |
|
Thrombocytopenia, Decreased proportion of naive CD8 T cells, Abnormal proportion of naive CD4 T c... |
ORPHA:1830 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Neutropenia, B lymphocytopenia, Hepatosplenomegaly |
OMIM:301081 |
Hydroxykynureninuria |
|
Abnormal repetitive mannerisms |
ORPHA:79155 |
Aspergillosis |
|
Eosinophilia, Neutropenia |
ORPHA:1163 |
Necrotizing Enterocolitis |
|
Leukocytosis, Thrombocytopenia, Neutropenia |
ORPHA:391673 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, Lymphopenia, Anemia |
ORPHA:508542 |
Pitt-Hopkins Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Gait ataxia |
OMIM:610954 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
Van Esch-O'Driscoll Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Shyness |
OMIM:301030 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... |
OMIM:250250 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... |
OMIM:612541 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Inability to walk, Abnormal social behavior, Irritability, Abnormal aggressive, impulsive or viol... |
ORPHA:1675 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Megaloblastic anemia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:277380 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:600901 |
Bacterial Toxic-Shock Syndrome |
|
Increased circulating metamyelocyte count, Abscess, Increased circulating myelocyte count, Thromb... |
ORPHA:36234 |
Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Hepatosplenomegaly, Enlarg... |
OMIM:608233 |
Leigh Syndrome |
|
Dystonia, Ataxia, Choreoathetosis, Athetosis, Neutropenia, Anemia |
ORPHA:506 |
Mend Syndrome |
|
Failure to thrive, Hyperactivity, Abnormal social behavior, Aggressive behavior |
ORPHA:401973 |
Developmental And Epileptic Encephalopathy 100 |
|
Chorea, Gait ataxia, Choreoathetosis, Dysphagia, Abnormal repetitive mannerisms |
OMIM:619777 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227650 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Self-injurious behavior, Compulsive behaviors, Frequent temper tantrums, Failure t... |
OMIM:619512 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Broad-based gait, Pain insensitivity, Ataxia, Truncal ataxia, Dysmetria, Gait ataxia, Dysphagia, ... |
OMIM:617330 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Gait atax... |
OMIM:614756 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
Hyper-Igd Syndrome |
|
Splenomegaly, Leukocytosis, Neutrophilia, Hepatosplenomegaly |
OMIM:260920 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia |
OMIM:617827 |
Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye... |
ORPHA:3260 |
Fanconi Anemia, Complementation Group I |
|
Neutropenia |
OMIM:609053 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... |
ORPHA:2330 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Neutropenia |
OMIM:308230 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Inability to walk, Abnormal repetitive mannerisms, Opisthotonus |
ORPHA:508533 |
Poikiloderma With Neutropenia |
|
Splenomegaly, Leukopenia, Neutropenia |
OMIM:604173 |
Developmental And Epileptic Encephalopathy 2 |
|
Inability to walk, Abnormal repetitive mannerisms |
OMIM:300672 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Small for gestational age, Gait disturbance, Attention deficit hyperactivity disorder, Failure to... |
ORPHA:464311 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Tremor, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:277400 |
Sepsis In Premature Infants |
|
Splenomegaly, Leukocytosis, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:90051 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hyperactivity, Small for gestational age, Gait disturbance, Failure to thrive, Abnormal repetitiv... |
ORPHA:464306 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227645 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Chiari type I ma... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Chiari type I ma... |
ORPHA:353277 |
Whim Syndrome |
|
Lymphopenia, Abnormal neutrophil morphology, Limb ataxia, Neutropenia |
ORPHA:51636 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Broad-based gait, Repetitive compulsive behavior, Gait ataxia, Stereotypical body rocking, Failur... |
ORPHA:513456 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
Trichothiodystrophy |
|
Increased mean corpuscular hemoglobin concentration, Gait ataxia, Neutropenia, Anemia, Intention ... |
ORPHA:33364 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Neutropenia, Hypoplastic... |
OMIM:557000 |
Kinsship Syndrome |
|
Failure to thrive, Abnormal repetitive mannerisms, Bruxism |
OMIM:619297 |
Agammaglobulinemia 1, Autosomal Recessive |
|
B lymphocytopenia, Rectal abscess, Neutropenia |
OMIM:601495 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia in presence o... |
ORPHA:37042 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Chiari type I malformation, Inappropriate laughter, Attention deficit hyperactivity disorder, Abn... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Chiari type I malformation, Inappropriate laughter, Attention deficit hyperactivity disorder, Abn... |
ORPHA:363958 |
Familial Mediterranean Fever |
|
Splenomegaly, Leukocytosis, Neutrophilia |
OMIM:249100 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
Bare Lymphocyte Syndrome, Type Ii |
|
Neutropenia |
OMIM:209920 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Neutropenia, Megaloblastic anemia |
ORPHA:79284 |
Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Inability to walk, Ataxia, Neutropenia |
OMIM:617799 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Thrombocytopenia, Neutropenia |
OMIM:617941 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia |
OMIM:607944 |
Fusariosis |
|
Brain abscess, Lung abscess, Abnormality of the spleen, Granuloma, Neutropenia, Lymphopenia |
ORPHA:228119 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Abnormal repetitive mannerisms, Obesity, Aggressive behavior |
OMIM:301066 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Abnormal repetitive mannerisms |
OMIM:301040 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Severe failure to thrive, Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:468631 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Abnormal repetitive mannerisms, Obesity, Difficulty walking |
OMIM:618653 |
Oculocerebrorenal Syndrome Of Lowe |
|
Depression, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivity disord... |
ORPHA:534 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227646 |
Vici Syndrome |
|
Leukopenia, T lymphocytopenia, Neutropenia, Decreased proportion of CD4-positive helper T cells, ... |
OMIM:242840 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Neutropenia, Ataxia, Thrombocytopenia, Megaloblastic anemia |
ORPHA:79282 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Neutropenia |
OMIM:618005 |
Mucopolysaccharidosis Type 2 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal temper tantrums, Abnormal repetitive ma... |
ORPHA:580 |
Cohen Syndrome |
|
Neutropenia |
ORPHA:193 |
Ogden Syndrome |
|
Irritability, Torticollis, Abnormal repetitive mannerisms, Dysphagia |
OMIM:300855 |
Arboleda-Tham Syndrome |
|
Dystonia, Abnormal repetitive mannerisms, Gait imbalance, Dysphagia |
OMIM:616268 |
Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, B lymphocytopenia, Anemia, Neutropenia |
OMIM:300755 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Small for gestational age, Hyperactivity, Abnormal repetitive mannerisms |
OMIM:309590 |
Khan-Khan-Katsanis Syndrome |
|
Lymphopenia, Anemia, Neutropenia |
OMIM:618460 |
Williams Syndrome |
|
Ataxia, Failure to thrive in infancy, Tremor, Obesity, Dysmetria, Depression, Gait disturbance, G... |
ORPHA:904 |
Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Ataxia, Thrombocytopenia, Splenomegaly, Neutropenia, Hypoplastic s... |
ORPHA:699 |
3-Methylglutaconic Aciduria, Type Viii |
|
Tremor, Neutropenia, Dystonia |
OMIM:617248 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Tremor, Self-injurious behavior, Truncal obesity, Failure to thrive, Abnormal repetitive mannerisms |
OMIM:612474 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Kikuchi-Fujimoto Disease |
|
Ataxia, Thrombocytopenia, Splenomegaly, Leukopenia, Lymphocytosis, Neutropenia, Anemia |
ORPHA:50918 |
Rothmund-Thomson Syndrome |
|
Leukemia, Aplastic anemia, Anemia, Neutropenia |
ORPHA:2909 |
Crimean-Congo Hemorrhagic Fever |
|
Pancytopenia, Neutrophilia, Splenomegaly, Leukocytosis, Leukopenia, Thrombocytopenia |
ORPHA:99827 |
Toxic Epidermal Necrolysis |
|
Thrombocytopenia, Anemia, Neutropenia |
ORPHA:537 |
Rothmund-Thomson Syndrome Type 1 |
|
Leukemia, Aplastic anemia, Anemia, Neutropenia |
ORPHA:221008 |
1P36 Deletion Syndrome |
|
Polyphagia, Obesity, Self-injurious behavior, Gait disturbance, Dysphagia, Failure to thrive, Abn... |
ORPHA:1606 |
Marburg Hemorrhagic Fever |
|
Lymphopenia, Reticulocytosis, Neutrophilia in presence of infection, Leukopenia, Abnormal lymphoc... |
ORPHA:99826 |
Norrie Disease |
|
Cachexia, Self-injurious behavior, Irritability, Attention deficit hyperactivity disorder, Failur... |
ORPHA:649 |
Rothmund-Thomson Syndrome Type 2 |
|
Leukemia, Aplastic anemia, Anemia, Neutropenia |
ORPHA:221016 |
Cartilage-Hair Hypoplasia |
|
Anemia, Neutropenia |
ORPHA:175 |
Glycogen Storage Disease Ib |
|
Splenomegaly, Neutropenia |
OMIM:232220 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:508498 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis... |
OMIM:619522 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Neutropenia |
ORPHA:163956 |
Hermansky-Pudlak Syndrome |
|
Neutropenia |
ORPHA:79430 |
Primrose Syndrome |
|
Restlessness, Ataxia, Aggressive behavior, Self-injurious behavior, Truncal obesity, Tics, Attent... |
OMIM:259050 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Neutropenia |
OMIM:271510 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Loss of ambulation, Unsteady gait, Abnormal repetitive mannerisms |
OMIM:616682 |
Yellow Fever |
|
Leukocytosis, Neutrophilia, Thrombocytopenia |
ORPHA:99829 |
Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:309000 |
Wolf-Hirschhorn Syndrome |
|
Small for gestational age, Failure to thrive, Abnormal repetitive mannerisms |
OMIM:194190 |
Coffin-Siris Syndrome 12 |
|
Failure to thrive, Abnormal repetitive mannerisms |
OMIM:619325 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Abnormal repetitive mannerisms |
OMIM:301044 |
Zygomycosis |
|
Brain abscess, Splenic abscess, Neutropenia |
ORPHA:73263 |
Mowat-Wilson Syndrome |
|
Broad-based gait, Ataxia, Impaired pain sensation, Inability to walk, Bruxism, Impaired social in... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Broad-based gait, Impaired pain sensation, Inability to walk, Bruxism, Dysphagia, Failure to thri... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Broad-based gait, Impaired pain sensation, Inability to walk, Bruxism, Dysphagia, Failure to thri... |
ORPHA:261552 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anemia, Neutropenia |
ORPHA:95455 |
Sponastrime Dysplasia |
|
Neutropenia |
ORPHA:93357 |
Aspartylglucosaminuria |
|
Vacuolated lymphocytes, Neutropenia |
OMIM:208400 |