Autism, Susceptibility To, X-Linked 4 |
|
Impulsivity, Aggressive behavior, Hypotonia, Generalized hypotonia, Attention deficit hyperactivi... |
OMIM:300830 |
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder, Depression |
OMIM:613003 |
Familial Alzheimer-Like Prion Disease |
|
Deficit in phonologic short-term memory, Depression, Cognitive impairment, Attention deficit hype... |
ORPHA:280397 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Absent Language |
|
Inability to walk, Hypotonia, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:620038 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Short attention span, Hyperactivity |
DECIPHER:19 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Short attention span, Hyperactivity |
OMIM:608443 |
Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
Hyperlysinemia, Type I |
|
Short attention span, Hyperactivity, Hyperlysinuria, Cognitive impairment, Hyperlysinemia, Anemia |
OMIM:238700 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Compulsive behaviors, Attention deficit hyperactivity disorder,... |
OMIM:137580 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior, Hypotonia, Generalized hypotonia, Bruxism, Spasticity |
OMIM:615493 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Lower limb spasticity, Aggressive behavior, Inability to walk, Hypotonia, Attention deficit hyper... |
OMIM:619639 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Impulsivity, Hypsarrhythmia, Generalized hypotonia, Attention deficit hype... |
OMIM:617113 |
Hartnup Disorder |
|
Hyperactivity, Hypertonia, Attention deficit hyperactivity disorder, Episodic ataxia, Emotional l... |
OMIM:234500 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk, Spastic tetraplegia, Hypotonia, Irritability, Spasticity |
OMIM:616657 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity, Hypotonia |
DECIPHER:20 |
Spinocerebellar Ataxia 14 |
|
Dysmetria, Focal dystonia, Depression, Gait ataxia, Progressive cerebellar ataxia, Attention defi... |
OMIM:605361 |
Landau-Kleffner Syndrome |
|
Interictal EEG abnormality, Short attention span, Hyperactivity, EEG with frontal focal spikes, I... |
ORPHA:98818 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior, Hypotonia, Bruxism, Spasticity |
ORPHA:356996 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Dysmetria, Depression, Attention deficit hyperactivity disorder, Difficulty walking, Ment... |
OMIM:619191 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Rigidity, Depression, Inappropriate behavior, Cognitive impairment, Dystonia, Memory impa... |
ORPHA:401901 |
Juvenile Huntington Disease |
|
Hyperactivity, Broad-based gait, Ataxia, Rigidity, Depression, Gait ataxia, Irritability, Progres... |
ORPHA:248111 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Aggressive behavior, EEG abnormality, Falls, EEG with focal sharp slow waves, Ment... |
ORPHA:2382 |
Stxbp1-Related Encephalopathy |
|
Hyperactivity, Ataxia, EEG with abnormally slow frequencies, Inability to walk, Hypotonia, Spasti... |
ORPHA:599373 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, Hypotonia, EEG abnormality, Generalized hypotonia, Ab... |
OMIM:239500 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Continuous spike and waves during slow sleep, Impulsivity, Attention deficit hyper... |
OMIM:301008 |
Ravine Syndrome |
|
Ataxia, Abnormal auditory evoked potentials, Anorexia, Decreased body weight, Failure to thrive |
ORPHA:99852 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Diminished ability to concentrate, Generalized... |
OMIM:615516 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Hypotonia, Self-mutilation |
DECIPHER:8 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Short attention span, Hyperactivity, Broad-based gait, Ataxia, EEG abnormality, Inappropriate lau... |
ORPHA:411515 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
EEG abnormality, Hyperactivity, Low-set ears |
ORPHA:436151 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Ataxia, Dystonia, Mental deterioration, Spasticity |
OMIM:615924 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Irritability, Hyp... |
OMIM:605899 |
Cln5 Disease |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Multifocal epilepti... |
ORPHA:228360 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Confusion, Microangiopathic hemolytic anemia, Decreased serum creatinine, Thromb... |
ORPHA:54057 |
Rasmussen Subacute Encephalitis |
|
Hyperactivity, Hemidystonia, Inability to walk, Increased theta frequency activity in EEG, Emotio... |
ORPHA:1929 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... |
ORPHA:100973 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Ataxia, Narcolepsy, Depression, Dementia, Memory impairment, Spasticity |
OMIM:604121 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Obesity, Hearing impairment |
OMIM:620270 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Focal EEG discharges with secondary generalization, Anorexia, Ag... |
ORPHA:3077 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Lower limb spasticity, Hyperactivity, Ataxia, EEG with generalized polyspikes, Aggressive behavio... |
ORPHA:163681 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia, Hypotonia |
OMIM:613402 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation, Hypsarrhythmia |
OMIM:619970 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... |
OMIM:617519 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, Neur... |
ORPHA:206443 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Difficulty walking... |
ORPHA:320401 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors, Dystonia, S... |
OMIM:301107 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Rigidity, Inability to walk, Hypotonia, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Depression, Irritability, Att... |
OMIM:261600 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Ataxia, EEG with spike-wave complexes, Aggressive behavior, Inability to walk, EEG... |
ORPHA:168491 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Progressive language deterioration, ... |
OMIM:610042 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Hypotonia, Abnormal r... |
OMIM:619470 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Se... |
OMIM:619827 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Jerk-locked premyoclonus spikes, EEG with irregular generalized spike and wave complexes,... |
OMIM:607876 |
Infantile Neuroaxonal Dystrophy |
|
Psychomotor deterioration, Short attention span, Hyperactivity, Axial hypotonia, Ataxia, Spastic ... |
ORPHA:35069 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... |
OMIM:235400 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Inability to walk, Bruxism, EEG abnormality, Self-injurious behavior, Infantile mu... |
OMIM:618718 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Dysphagia, Gait ataxia, EEG a... |
ORPHA:500180 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Failure to thrive, Posteriorly rotated ears, Small for gestational age, Aggressive... |
OMIM:609425 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Inability to walk, Sensorineural hearing impairment, Preling... |
ORPHA:52368 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Confusion, Schistocytosis, Elevated circulating creatinine concentration, Microa... |
OMIM:274150 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Hypotonia, Attention deficit hyperactivity disorder |
OMIM:617182 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... |
OMIM:125250 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Hypotonia, Generalized hypotonia, Aggressive behavior |
OMIM:248510 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Myoclonic-Astatic Epilepsy |
|
EEG with polyspike wave complexes, Hyperactivity, EEG with focal spike waves, Ataxia, EEG with ir... |
ORPHA:1942 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia |
OMIM:617056 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Ataxia, Optic atrophy, Irritability, Joint contra... |
OMIM:616881 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Hypotonia, EEG abnormality, Self-injurious behavior, ... |
OMIM:271980 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Hypotonia, Self-injurious behavior, Athetosis, Dystonia |
ORPHA:382 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Axial hypotonia, Ataxia, Aggressive behavior, Choreoathetosis, Dystonia, Spasticity |
OMIM:612716 |
Ck Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Irritability, Abnormal cortical bon... |
OMIM:300831 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612926 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se... |
OMIM:601455 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Hypotonia, Depression, Atten... |
OMIM:620242 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Lower limb spasticity, Hyperactivity, Aggressive behavior, Unsteady gait, Depression, Self-injuri... |
ORPHA:485350 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Irritability, Decreased serum creatinine, Decreased ci... |
OMIM:300539 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Short attention span, Hyperactivity, Broad-based gait, Ataxia, EEG with abnormally slow frequenci... |
ORPHA:98794 |
Developmental And Epileptic Encephalopathy 109 |
|
Hyperactivity, Axial hypotonia, Hypotonia, Gait ataxia, Crouch gait, Spasticity |
OMIM:620145 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612925 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia, Elevated circulating creatinine concentration |
OMIM:619468 |
Preeclampsia |
|
Elevated circulating creatinine concentration, Thrombocytopenia |
ORPHA:275555 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Ataxia, Narcolepsy, Depression, Mental deterioration, Memory impairment, Spasticity |
ORPHA:314404 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Short attention span, Hyperactivity, Restlessness, Aggressive behavior, Hypotonia, Agitation |
OMIM:300558 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Aggressive behavior, Hypotonia, Depression, Self-injurious behavior, Compulsive be... |
OMIM:619467 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Progressive neurologic deterioration, Aggressive behavior, Joint sti... |
OMIM:252920 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Short attention span, Hyperactivity, Impulsivity, Dysphagia, Dysmetria, Gait ataxia, Dysdiadochok... |
OMIM:610217 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Aggressive behavior, Progressive spastic paraparesis, Dementia, Disinhibition, Gai... |
ORPHA:43 |
Optic Atrophy 11 |
|
Hyperactivity, Decreased sensory nerve conduction velocity, Ataxia, Optic nerve hypoplasia, Splen... |
OMIM:617302 |
Gomez-Lopez-Hernandez Syndrome |
|
Hyperactivity, Ataxia, Hypotonia, Depression, Self-injurious behavior, Hypertonia, Generalized hy... |
OMIM:601853 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Short attention span, Hyperactivity, Aggressive behavior, Hypotonia, Depression, Irritability, Se... |
ORPHA:449291 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Progressive neurologic deterioration, Elevated circulating creatinine concentr... |
ORPHA:247691 |
Relapsing Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... |
ORPHA:91547 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Aggressive b... |
OMIM:612736 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Joint laxity, Hyperactivity, Broad-based gait, Aggressive behavior, Hearing impairment |
ORPHA:457260 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Aggressive behavior, Prominent crus of helix, Obesity, Attention deficit hyperacti... |
OMIM:301013 |
Charcot-Marie-Tooth Disease Type 1F |
|
Restless legs, Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve condu... |
ORPHA:101085 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Aggressive behavior, Hypotonia, Attention deficit hyperactivity disorder, Abnormal... |
OMIM:620292 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Ataxia, Progressive psychomotor deterioration, Gait ataxia, Cognitive impairment, ... |
ORPHA:363400 |
Niemann-Pick Disease Type C |
|
Axial dystonia, Lower limb spasticity, Dystonia, Ataxia, Progressive neurologic deterioration, Ag... |
ORPHA:646 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit... |
ORPHA:247585 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Rigidity, Inability to walk, Choreoathetosis, Self-injurious ... |
OMIM:620023 |
Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... |
OMIM:600501 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms |
OMIM:615541 |
Osteopetrosis, Autosomal Recessive 9 |
|
Elevated circulating creatinine concentration, Hyperkalemia, Anemia |
OMIM:620366 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Ataxia, Abnormal auditory evoked potentials, Abnormality of somatosensor... |
ORPHA:99027 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Ataxia, Abnormal pinna morphology, Small for gestational age, Failure to thrive in... |
OMIM:614104 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Short attention span, Hyperactivity, Sensorineural hearing impairment, Decreased body... |
OMIM:608747 |
Cerebrotendinous Xanthomatosis |
|
Osteopenia, Progressive psychomotor deterioration, Ataxia, Osteoporosis, Increased susceptibility... |
ORPHA:909 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Tem... |
ORPHA:1215 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Short attention span, Lower limb spasticity, Hyperactivity, Ataxia, Confusion, Spastic tetrapares... |
ORPHA:139396 |
Developmental And Epileptic Encephalopathy 103 |
|
EEG with polyspike wave complexes, Hyperactivity, Ataxia, EEG with burst suppression, Hypotonia, ... |
OMIM:619913 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ... |
ORPHA:3202 |
Chromosome Xq13 Duplication Syndrome |
|
Hyperactivity, Aggressive behavior, Hypotonia, Diminished ability to concentrate, Attention defic... |
OMIM:301069 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Hyperactivity, Axial hypotonia, Ataxia, Broad-based gait, Tongue thrusting, Pica, Hypotonia, Unst... |
OMIM:617865 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Thrombocytopenia, Elevated circulating creatinine concentration, Hypoalbuminemia, Anemia |
OMIM:608104 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Graves Disease, Susceptibility To, 1 |
|
Irritability, Hyperactivity, Polyphagia, Weight loss |
OMIM:275000 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, Progressive neurologic ... |
ORPHA:206448 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Hypotonia, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abno... |
OMIM:617600 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration |
OMIM:616733 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Lymphopenia, Hyperactivity, Aggressive behavior, Irritability, Macrotia, Abnormal repetitive mann... |
ORPHA:391307 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Short attention span, Hyperactivity, Small for gestational age, Congenital sensorineural hearing ... |
ORPHA:73272 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Arthrogryposis, Distal, Type 2A |
|
Hip contracture, Flexion contracture of finger, Failure to thrive, Small for gestational age, Rec... |
OMIM:193700 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Hyperactivity, Joint stiffness, Splenomegaly, Dense calvaria, Dysphagia, Motor dete... |
OMIM:252930 |
Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia |
ORPHA:90060 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Confusion, Hyperbilirubinemia |
ORPHA:542323 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... |
ORPHA:90038 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Ataxia, Abnormal auditory evoked potentials |
OMIM:619260 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Ataxia, Akinesia, Rigidity, Phonic tics, Depression, Blepharospasm, Dysphagia, Cho... |
OMIM:234200 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Elevated circulating creatinine concentration |
OMIM:615605 |
Infantile Krabbe Disease |
|
Psychomotor deterioration, Prolonged brainstem auditory evoked potentials, Progressive neurologic... |
ORPHA:206436 |
Senior-Loken Syndrome 1 |
|
Polydipsia, Elevated circulating creatinine concentration, Anemia |
OMIM:266900 |
Adenylosuccinase Deficiency |
|
Hyperactivity, Aggressive behavior, Inability to walk, Hypotonia, Opisthotonus, Gait ataxia, Inap... |
OMIM:103050 |
Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Hyperactivity, Joint stiffness, Splenomegaly, Dense calvaria, Hearing impairment |
OMIM:252900 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Histidinemia |
|
Histidinuria, Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Self-mutilation, Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Bacterial Toxic-Shock Syndrome |
|
Confusion, Elevated circulating creatine kinase concentration, Elevated circulating creatinine co... |
ORPHA:36234 |
C3 Glomerulopathy |
|
Elevated circulating creatinine concentration |
ORPHA:329918 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Bradyphrenia, Short attention span, Hyperactivity, Facial hypotonia, Dysphagia, Neonatal hypotonia |
ORPHA:589821 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
EEG with burst suppression, Hyperactivity, Failure to thrive, Hypsarrhythmia |
OMIM:619239 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Ataxia, Aganglionic megacolon, Cachexia, Joint hyperflexibility, Athetosis, Self-m... |
ORPHA:52503 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Hepatomegaly, Failure to thrive, Foot joint contracture, Ata... |
ORPHA:90321 |
Pediatric-Onset Graves Disease |
|
Hepatomegaly, Hyperactivity, Craniosynostosis, Splenomegaly, Jaundice, Neutropenia in presence of... |
ORPHA:525731 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia, Hypochromic microcytic anemia, Osteope... |
ORPHA:3240 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... |
ORPHA:79126 |
Angelman Syndrome |
|
Hyperactivity, Broad-based gait, Ataxia, Hypotonia, EEG abnormality, Progressive gait ataxia, Gen... |
OMIM:105830 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Argininemia |
|
Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Cholestasis, Irritability, Portal ... |
OMIM:207800 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hyperactivity, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T... |
ORPHA:760 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
Cockayne Syndrome A |
|
Hip contracture, Hepatomegaly, Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potent... |
OMIM:216400 |
Marburg Hemorrhagic Fever |
|
Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hyperamylasemia... |
ORPHA:99826 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Ataxia, Aganglionic megacolon, Short-segment aganglionic meg... |
OMIM:609136 |
Hyperlysinemia |
|
Short attention span, Neck hypertonia, Hyperactivity, Spastic tetraparesis, Spastic diplegia, Dys... |
ORPHA:2203 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Decreased HDL cholesterol concentration, Iron deficiency anemia, Hypo... |
OMIM:618885 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Hyperactivity, Osteomyelitis, Abnormal autonomic nervous system physiology, Emotional lability, P... |
OMIM:256800 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... |
OMIM:608836 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
Choreoacanthocytosis |
|
Hypertonia, Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Decrease... |
ORPHA:2388 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Elevated circulating creatinine concentration |
OMIM:614376 |
Cockayne Syndrome B |
|
Hepatomegaly, Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Small for g... |
OMIM:133540 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration, Confusion |
ORPHA:97292 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Anemia, Increased blood urea nitrogen |
ORPHA:230 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Emotional lability, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
Hemorrhagic Fever-Renal Syndrome |
|
Confusion, Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevated circulating creatinine concentr... |
ORPHA:340 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hyperuricemia, Anemia |
OMIM:174000 |
Trisomy 10P |
|
Absent gallbladder, Posteriorly rotated ears, Small for gestational age, Abnormal auditory evoked... |
ORPHA:171929 |
Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia |
OMIM:618314 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Anorexia, Elevated circulating C-reactive protein concentration, Elevated circ... |
ORPHA:49041 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Aminoaciduria, Hypokal... |
ORPHA:411634 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Prolonge... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Prolonge... |
ORPHA:529799 |
Mucopolysaccharidosis Type 2 |
|
Progressive neurologic deterioration, Conductive hearing impairment, Abnormal repetitive manneris... |
ORPHA:580 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperproteinemia, Anemia |
ORPHA:29073 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Multiple joint contractures, Hair-pulling, Protruding ear, Hypsarrhythmia, Irritab... |
ORPHA:447997 |
Mend Syndrome |
|
Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Low-set ears, Failure to... |
ORPHA:401973 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Emotional lability, Hyperactivity, Ataxia |
OMIM:620047 |
Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
Aapoaiv Amyloidosis |
|
Hyperlipidemia, Elevated circulating creatinine concentration |
ORPHA:439232 |
Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Hepatomegaly, Sensorineural hearing impairment, Optic atroph... |
ORPHA:79330 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Aggressive behavior, Narcolepsy, Depression, Self-injurious behavior, Compulsive behaviors, Gener... |
ORPHA:293987 |
Oligomeganephronia |
|
Polydipsia, Elevated circulating creatinine concentration |
ORPHA:2260 |
Narcolepsy 7 |
|
Narcolepsy |
OMIM:614250 |
African Trypanosomiasis |
|
Akinesia, Aggressive behavior, Narcolepsy, Choreoathetosis, Irritability, Gait disturbance, Diffi... |
ORPHA:3385 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Nail-biting, Hyperactivity, Osteomyelitis, Short attention span, Impulsivity, Painless fractures ... |
ORPHA:642 |
Papillorenal Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:120330 |
Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration |
ORPHA:730 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Anorexia, Elevated circ... |
ORPHA:91500 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:617478 |
Yellow Fever |
|
Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat... |
ORPHA:99829 |
Pauci-Immune Glomerulonephritis |
|
Granulomatosis, Elevated circulating creatinine concentration |
ORPHA:93126 |
Renal Cysts And Diabetes Syndrome |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:137920 |
Igg4-Related Kidney Disease |
|
Eosinophilia, Elevated circulating creatinine concentration, Decreased retinol-binding protein le... |
ORPHA:449395 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Elevat... |
OMIM:619534 |