Attention Deficit-Hyperactivity Disorder |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
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Short attention span, Hyperactivity |
OMIM:608443 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
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Short attention span, Hyperactivity |
DECIPHER:19 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
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Hyperactivity, Bruxism, Aggressive behavior, Large for gestational age |
ORPHA:356996 |
Polycythemia Vera |
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Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Erythrocytosis, Familial, 8 |
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Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Erythrocytosis, Familial, 3 |
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Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Erythrocytosis, Familial, 5 |
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Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Erythrocytosis, Familial, 4 |
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Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Erythrocytosis, Familial, 6 |
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Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Hyperlysinemia, Type I |
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Cognitive impairment, Short attention span, Hyperactivity, Anemia |
OMIM:238700 |
Erythrocytosis, Familial, 1 |
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Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Erythrocytosis, Familial, 7 |
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Increased hematocrit, Polycythemia |
OMIM:617981 |
Anemia, Sideroblastic, 5 |
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Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Erythrocytosis, Familial, 2 |
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Increased red blood cell mass, Failure to thrive, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
Glycine Encephalopathy 1 |
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Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Lethargy |
OMIM:605899 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Hartnup Disorder |
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Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Intellectual Developmental Disorder, X-Linked 109 |
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Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Smith-Magenis syndrome |
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Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Juvenile Huntington Disease |
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Broad-based gait, Hyperactivity, Ataxia, Gait ataxia, Bradykinesia, Progressive cerebellar ataxia... |
ORPHA:248111 |
Fraxe Intellectual Disability |
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Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Developmental And Epileptic Encephalopathy 43 |
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Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Tempi Syndrome |
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Increased hematocrit, Polycythemia |
ORPHA:284227 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
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Hyperactivity, Broad-based gait, Aggressive behavior, Elbow flexion contracture, Abnormal repetit... |
OMIM:619470 |
Landau-Kleffner Syndrome |
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Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Gait ataxia, Depression, M... |
ORPHA:98818 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
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Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... |
OMIM:619827 |
Ck Syndrome |
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Hyperactivity, Aggressive behavior, Irritability, Abnormal cortical bone morphology, Slender buil... |
OMIM:300831 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, O... |
ORPHA:3077 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
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Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Lennox-Gastaut Syndrome |
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Mental deterioration, Hyperactivity, Falls, Aggressive behavior |
ORPHA:2382 |
Gaisböck Syndrome |
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Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Obesity, Gout, Inc... |
ORPHA:90041 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
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Short attention span, Hyperactivity, Broad-based gait, Ataxia, Obesity, Inappropriate laughter, P... |
ORPHA:411515 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
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Hyperactivity, Aggressive behavior, Unsteady gait, Diminished ability to concentrate, Recurrent h... |
OMIM:615516 |
Phenylketonuria |
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Hyperactivity, Aggressive behavior, Depression, Irritability, Attention deficit hyperactivity dis... |
OMIM:261600 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
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Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Insulin-Like Growth Factor I Deficiency |
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Osteopenia, Short attention span, Hyperactivity, Decreased body weight |
OMIM:608747 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
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Hyperactivity, Inguinal hernia, Impulsivity, Aggressive behavior, Frequent temper tantrums, Atten... |
OMIM:620141 |
Mucopolysaccharidosis, Type Iiib |
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Hyperactivity, Progressive neurologic deterioration, Aggressive behavior, Joint stiffness, Spleno... |
OMIM:252920 |
Cln5 Disease |
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Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Dysmetria, Dysdiado... |
ORPHA:228360 |
Infantile Neuroaxonal Dystrophy |
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Psychomotor deterioration, Short attention span, Hyperactivity, Ataxia, Impulsivity, Unsteady gai... |
ORPHA:35069 |
Mucopolysaccharidosis, Type Iiic |
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Hyperactivity, Joint stiffness, Splenomegaly, Motor deterioration, Hernia, Dysphagia, Dense calvaria |
OMIM:252930 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
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Limitation of movement at ankles, Short attention span, Broad-based gait, Hyperactivity, Ataxia, ... |
ORPHA:98794 |
Mucopolysaccharidosis, Type Iiia |
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Inguinal hernia, Hyperactivity, Joint stiffness, Splenomegaly, Umbilical hernia, Dense calvaria |
OMIM:252900 |
Acute Interstitial Pneumonia |
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Reduced hematocrit |
ORPHA:79126 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
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Hyperactivity, Ataxia, Aggressive behavior, Mental deterioration, Obesity, Low frustration tolera... |
ORPHA:163681 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
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Joint laxity, Short attention span, Hyperactivity, Aggressive behavior, Depression, Self-injuriou... |
ORPHA:449291 |
X-Linked Adrenoleukodystrophy |
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Hyperactivity, Aggressive behavior, Dementia, Disinhibition, Gait disturbance, Attention deficit ... |
ORPHA:43 |
Pitt-Hopkins-Like Syndrome 1 |
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Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... |
OMIM:610042 |
X-Linked Cerebral Adrenoleukodystrophy |
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Short attention span, Hyperactivity, Ataxia, Confusion, Inability to walk, Dysmetria, Hamstring c... |
ORPHA:139396 |
Neurodegeneration With Brain Iron Accumulation 2B |
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Short attention span, Hyperactivity, Impulsivity, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadoc... |
OMIM:610217 |
Citrullinemia Type Ii |
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Restlessness, Hyperactivity, Confusion, Aggressive behavior, Abnormal eating behavior, Mania, Mem... |
ORPHA:247585 |
Bone Marrow Failure Syndrome 3 |
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Acute myeloid leukemia, Pancytopenia, Hyperactivity, Aplastic anemia, Thrombocytopenia, Reduced b... |
OMIM:617052 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Hyperactivity, Ataxia, Akinesia, Acanthocytosis, Phonic tics, Depression, Choreoathetosis, Bradyk... |
OMIM:234200 |
Choreoacanthocytosis |
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Compulsive behaviors, Loss of ambulation, Self-mutilation of tongue and lips due to involuntary m... |
ORPHA:2388 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Normocytic anemia, Anorexia, Weight loss, Normochromic anemia, Reduced hematocrit, Chorioretinal ... |
ORPHA:91500 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Nail-biting, Fasciitis, Osteomyelitis, Hyperactivity, Short attention span, Impulsivity, Corneal ... |
ORPHA:642 |