Major Depressive Disorder |
|
Depression |
OMIM:608516 |
Major Affective Disorder 1 |
|
Mania, Depression |
OMIM:125480 |
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder, Depression |
OMIM:613003 |
Specific Language Impairment 2 |
|
Deficit in phonologic short-term memory |
OMIM:606712 |
Specific Language Impairment 1 |
|
Deficit in phonologic short-term memory |
OMIM:606711 |
7q11.23 duplication syndrome |
|
Short attention span |
DECIPHER:43 |
Presenile Dementia, Kraepelin Type |
|
Dementia |
OMIM:176600 |
Monoamine Oxidase A Deficiency |
|
Cognitive impairment |
ORPHA:3057 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Impaired social interactions, Compulsive behaviors |
OMIM:618830 |
Severe Primary Trimethylaminuria |
|
Aggressive behavior, Negative affectivity, Depression, Emotional lability, Obsessive-compulsive t... |
ORPHA:468726 |
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 |
Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
Advanced Sleep Phase Syndrome, Familial, 3 |
|
Depression |
OMIM:616882 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Short attention span, Hyperactivity |
DECIPHER:19 |
Autism, Susceptibility To, X-Linked 4 |
|
Motor tics, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior |
OMIM:300830 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Short attention span, Hyperactivity |
OMIM:608443 |
Basal Ganglia Calcification, Idiopathic, 4 |
|
Dementia, Attention deficit hyperactivity disorder, Depression |
OMIM:615007 |
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant |
|
Dementia, Cognitive impairment |
OMIM:618564 |
Obsessive-Compulsive Disorder |
|
Collectionism, Compulsive behaviors, Skin-picking, Depression |
OMIM:164230 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Gait ataxia, Shyness, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:618221 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608631 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Abnormal repetitive mannerisms, Impaired social interactions |
OMIM:606053 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Unsteady gait, Impaired ability to form peer relationships, Impaired social... |
OMIM:608636 |
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 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Elevated hemoglobin A1c |
OMIM:616511 |
Intellectual Developmental Disorder, Autosomal Recessive 64 |
|
Impaired social interactions, Aggressive behavior |
OMIM:618103 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitroge... |
OMIM:620085 |
Brunner Syndrome |
|
Self-injurious behavior, Low frustration tolerance, Impulsivity, Aggressive behavior |
OMIM:300615 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Reduced C-peptide level, Elevated hemoglobin A1c |
OMIM:618858 |
Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder |
OMIM:607417 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Reduced C-peptide level, Elevated hemoglobin A1c |
OMIM:610582 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Reduced C-peptide level, Elevated hemoglobin A1c |
OMIM:606176 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Hartnup Disorder |
|
Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Attention deficit hyperactivity disorder |
OMIM:617028 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Elevated hemoglobin A1c |
OMIM:609812 |
Pick Disease Of Brain |
|
Frontotemporal dementia, Polyphagia, Irritability, Disinhibition, Inappropriate laughter, Emotion... |
OMIM:172700 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Reduced C-peptide level, Elevated hemoglobin A1c |
OMIM:616329 |
Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... |
ORPHA:168782 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Hyperlysinemia, Type I |
|
Short attention span, Hyperactivity, Cognitive impairment |
OMIM:238700 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Inability to walk, Hyperactivity, Irritability |
OMIM:616657 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Elevated hemoglobin A1c |
OMIM:619278 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:618620 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Dysmetria, Depression, Difficulty walking, Attention deficit hyperactivity disorder, Ment... |
OMIM:619191 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability |
OMIM:605899 |
Frontotemporal Dementia |
|
Frontotemporal dementia, Frontal lobe dementia, Irritability, Dementia, Disinhibition, Inappropri... |
OMIM:600274 |
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 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Elevated circulating creatine kinase concentration, Loss of ambulation, Gait ataxia, Limb... |
OMIM:208920 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... |
ORPHA:101039 |
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Elevated hemoglobin A1c, Gait ataxia |
OMIM:616192 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Confusion, Dementia, Agitation, Disinhibition, Semantic dementia, Memory impairment, Abno... |
ORPHA:1020 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, Hyperprolinemia, Abnormal repetitive mannerisms |
OMIM:239500 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612924 |
Polyendocrine-Polyneuropathy Syndrome |
|
Ataxia, Elevated hemoglobin A1c |
OMIM:616113 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... |
ORPHA:3077 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Self-injurious behavior, Impaired social interactions, Stereotypical hand wringing |
ORPHA:397933 |
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 |
Ataxia-Oculomotor Apraxia 4 |
|
Ataxia, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Cognitive impairme... |
OMIM:616267 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia |
ORPHA:94124 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Transient hyperphenylalanine... |
OMIM:612716 |
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 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia |
OMIM:620270 |
Hsd10 Disease |
|
Short attention span, Ataxia, Choreoathetosis, Gait disturbance, Dysphagia, Abnormal social behavior |
ORPHA:391417 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia |
OMIM:607250 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Confusion, Abnormal fear-induced behavior, Abnormal circulating porph... |
ORPHA:100924 |
Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Depression, Irritability, Attention deficit hyperactivity dis... |
OMIM:261600 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors, Dystonia |
OMIM:301107 |
Landau-Kleffner Syndrome |
|
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Gait ataxia, Depression, M... |
ORPHA:98818 |
Lesch-Nyhan Phenotype With Normal Hgprt |
|
Choreoathetosis, Self-mutilation, Hyperuricemia |
OMIM:308950 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Citrullinemia Type Ii |
|
Restlessness, Hyperactivity, Decreased HDL cholesterol concentration, Acute hyperammonemia, Confu... |
ORPHA:247585 |
Juvenile Huntington Disease |
|
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Progressive cerebellar ataxia, ... |
ORPHA:248111 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612925 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Dystonia |
OMIM:615924 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... |
OMIM:618718 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608049 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... |
OMIM:610042 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Familial Renal Glucosuria |
|
Elevated hemoglobin A1c |
ORPHA:69076 |
Lennox-Gastaut Syndrome |
|
Mental deterioration, Hyperactivity, Falls, Aggressive behavior |
ORPHA:2382 |
Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Short attention span, Attention deficit hyperactivity disorder, Abnormal social behavior, Compuls... |
ORPHA:444002 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hyperuricemia, Increase... |
OMIM:613845 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei... |
ORPHA:64753 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Aggressive behavior, Tremor, Abnormal repetitive mannerisms |
OMIM:619470 |
Gand Syndrome |
|
Hyperactivity, Tics, Inappropriate laughter |
OMIM:615074 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Diminished ability to concentrate, Recurrent h... |
OMIM:615516 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Polyphagia, Impaired social interactions, Aggressive behavior |
ORPHA:329249 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior |
OMIM:248510 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
Dend Syndrome |
|
Elevated hemoglobin A1c |
ORPHA:79134 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Compulsive behaviors |
OMIM:619467 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia |
OMIM:613752 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Aceruloplasminemia |
|
Ataxia, Decreased serum iron, Increased circulating ferritin concentration, Aceruloplasminemia, D... |
OMIM:604290 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Werner Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:277700 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... |
OMIM:235400 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Iron Overload, Susceptibility To |
|
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... |
OMIM:620121 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... |
OMIM:267700 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Short attention span, Hyperactivity, Aggressive behavior, Shyness, Depression, Self-injurious beh... |
ORPHA:449291 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ... |
OMIM:274150 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Athetosis, Self-injurious behavior, Dystonia |
ORPHA:382 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal social behavior, Abnormal repetitive ma... |
ORPHA:530983 |
Diarrhea 13 |
|
Hypoalbuminemia |
OMIM:620357 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Aggressive behavior, Depression, Impaired social interactions, Dysphagia |
OMIM:619738 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia |
ORPHA:88643 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Elevated transferrin saturation |
OMIM:205950 |
Childhood Absence Epilepsy |
|
Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression |
ORPHA:64280 |
Mody |
|
Elevated hemoglobin A1c, Abnormal circulating C-peptide concentration |
ORPHA:552 |
Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia, Abnormal repetitive mannerisms, Paroxysmal bursts of laughter |
OMIM:618347 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron |
OMIM:603358 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
Seckel Syndrome 10 |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:617253 |
Genetic Hyperferritinemia Without Iron Overload |
|
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... |
ORPHA:254704 |
Young-Onset Parkinson Disease |
|
Restless legs, Short attention span, Impulsivity, Depression, Frontal lobe dementia, Dementia, Ag... |
ORPHA:2828 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici... |
OMIM:620242 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Unsteady gait, Gait ataxia, Hypoalbuminemia, Dysphagia, Mental deterioration |
OMIM:254900 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Ataxia, Gait disturbance, Inappropriate laughter, Abnormal repetitive mannerisms, ... |
OMIM:614104 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia, Polyphagia, Self-injurious behavior, Abnormal repetitive mannerisms, Parox... |
ORPHA:228402 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Broad-based gait, Hypoalbuminemia |
OMIM:618805 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Irritability, Hypoalbuminemia |
ORPHA:656 |
Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia |
OMIM:615008 |
Cln5 Disease |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Dysmetria, Dysdiado... |
ORPHA:228360 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Episodic hemolytic anemia, Polyphagia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:251004 |
Reni Syndrome |
|
Mental deterioration, Hypertriglyceridemia, Hypoalbuminemia, Ataxia |
OMIM:617575 |
Alg6-Cdg |
|
Hypoalbuminemia, Decreased LDL cholesterol concentration, Ataxia |
ORPHA:79320 |
Chylomicron Retention Disease |
|
Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia |
OMIM:246700 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c |
OMIM:616539 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment |
ORPHA:309246 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior |
OMIM:620023 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Irritab... |
OMIM:603553 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Myoclonic-Astatic Epilepsy |
|
Hyperactivity, Ataxia, Unsteady gait, Abnormal emotion, Impaired social interactions, Attention d... |
ORPHA:1942 |
Bloom Syndrome |
|
Leukemia, Elevated hemoglobin A1c |
OMIM:210900 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dysphagia |
ORPHA:500180 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue t... |
ORPHA:98794 |
Liver Failure, Infantile, Transient |
|
Irritability, Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Immunodeficiency 27A |
|
Hypoalbuminemia, Anorexia |
OMIM:209950 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Short attention span, Elevated circulating creatine kinase concentration, Abnormal circulating ho... |
ORPHA:88618 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Irritability, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
ORPHA:391307 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Splenomegaly, Hypertriglyceridemia, Polyphagia, Elevated hemoglobin A1c |
OMIM:269700 |
Hjv Or Hamp-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... |
ORPHA:79230 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Aggressive behavior, Increased circulating ACTH level, Dementia, Disinhibition, Ga... |
ORPHA:43 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Increased blood urea nitrogen |
OMIM:223360 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... |
OMIM:616050 |
Infantile Neuroaxonal Dystrophy |
|
Psychomotor deterioration, Short attention span, Hyperactivity, Ataxia, Impulsivity, Unsteady gai... |
ORPHA:35069 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Motor deterioration, Dementia, Gai... |
ORPHA:168491 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Leishmaniasis |
|
Hypoalbuminemia, Anorexia |
ORPHA:507 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Ataxia, Aggressive behavior, Mental deterioration, Low frustration tolerance, Abno... |
ORPHA:163681 |
Aceruloplasminemia |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, At... |
ORPHA:48818 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Anorexia |
ORPHA:2494 |
Cockayne Syndrome Type 1 |
|
Ataxia, Gait disturbance, Difficulty walking, Increased blood urea nitrogen, Anemia |
ORPHA:90321 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis |
OMIM:231100 |
Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Anemia, Increased blood urea nitrogen |
ORPHA:230 |
Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Dysphagia |
ORPHA:2070 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy... |
OMIM:242150 |
Adenylosuccinase Deficiency |
|
Hyperactivity, Aggressive behavior, Inability to walk, Gait ataxia, Inappropriate laughter, Self-... |
OMIM:103050 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Immunodeficiency 43 |
|
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia |
OMIM:241600 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... |
ORPHA:447 |
47,Xyy Syndrome |
|
Hyperactivity, Impulsivity, Increased circulating gonadotropin level, Increased serum testosteron... |
ORPHA:8 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Hepatoportal Sclerosis |
|
Hyperbilirubinemia, Hypoalbuminemia, Cognitive impairment |
ORPHA:64743 |
Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:619127 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum iron, Depression, Decreased circulating carnitine concentration, Decreased serum ... |
ORPHA:89842 |
Metachromatic Leukodystrophy, Adult Form |
|
Short attention span, Progressive psychomotor deterioration, Depression, Memory impairment, Progr... |
ORPHA:309271 |
Beta-Thalassemia |
|
Irritability, Abnormality of iron homeostasis |
ORPHA:848 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Gait ataxia, Progressive gait ataxia, Tip-toe gait, Emotional lability, Abnormal social behavior |
ORPHA:309256 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Anorexia, Elevated circulating C-reactive protein concentration, Elevated circ... |
ORPHA:49041 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Short attention span, Hyperactivity, Impulsivity, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dys... |
OMIM:610217 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
Congenital Enterovirus Infection |
|
Irritability, Hypoalbuminemia, Hyperammonemia |
ORPHA:292 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... |
OMIM:608643 |
Keratoderma Hereditarium Mutilans |
|
Self-injurious behavior, Abnormal spinal cord morphology |
ORPHA:494 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Short attention span, Progressive psychomotor deterioration, Progressive gait ataxia, Emotional l... |
ORPHA:309263 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac... |
OMIM:617600 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Ataxia, Abnormal circulating creatine concentration, Athetosis, Dystonia, Self-mut... |
ORPHA:52503 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Difficulty walking, Hyperbilirubinemia |
ORPHA:1667 |
X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis |
ORPHA:75563 |
Insulin-Like Growth Factor I Deficiency |
|
Short attention span, Hyperactivity, Elevated circulating growth hormone concentration, Decreased... |
OMIM:608747 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
OMIM:308240 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Short attention span, Hyperactivity, Decreased circulating cortisol level, Ataxia, Confusion, Ina... |
ORPHA:139396 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Abnormal circulating albumin concentration |
ORPHA:86839 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Hypoalbuminemia |
OMIM:608104 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Hypoalbuminemia, Progressive neurologic deterioration |
OMIM:618329 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Falls, Difficulty walking |
ORPHA:3198 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hyperactivity, Aggressive behavior, Low frustration tolerance, Impaired social interactions, Comp... |
OMIM:309520 |
Mpi-Cdg |
|
Hypoalbuminemia |
ORPHA:79319 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... |
ORPHA:158061 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation |
OMIM:618056 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... |
ORPHA:766 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Restless legs, Abnormal spinal cord morphology |
ORPHA:99947 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Broad-based gait, Ataxia, Decreased LDL cholesterol conc... |
ORPHA:14 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Bacterial Toxic-Shock Syndrome |
|
Confusion, Elevated circulating creatine kinase concentration, Elevated circulating creatinine co... |
ORPHA:36234 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration |
ORPHA:247353 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
Aicardi-Goutieres Syndrome 9 |
|
Irritability, Hypoalbuminemia, Self-mutilation |
OMIM:619487 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Hypouricemia, Dementia, Hypoalbuminemia, High ... |
OMIM:277900 |
Immunodeficiency 32B |
|
Hypoalbuminemia |
OMIM:226990 |
48,Xxxy Syndrome |
|
Irritability, Abnormal social behavior, Attention deficit hyperactivity disorder, Abnormal aggres... |
ORPHA:96263 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia |
OMIM:617093 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Nonprogressive cerebellar ataxia, Memory i... |
ORPHA:314647 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Emotional lability, Hyperactivity, Ataxia |
OMIM:620047 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypoalbuminemia |
OMIM:617021 |
Trichohepatoenteric Syndrome 1 |
|
Increased serum iron, Hypoalbuminemia, Abnormality of iron homeostasis, Hypermethioninemia, Cogni... |
OMIM:222470 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Increased serum iron, Elevated hepatic iron concentration |
OMIM:206100 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia |
OMIM:618314 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormal spinal cord morphology |
ORPHA:139578 |
Gracile Syndrome |
|
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... |
ORPHA:53693 |
Avian Influenza |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react... |
ORPHA:454836 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia |
OMIM:602579 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Mucopolysaccharidosis-Plus Syndrome |
|
Inability to walk, Hypoalbuminemia |
OMIM:617303 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia |
ORPHA:540 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
Tay-Sachs Disease |
|
Exaggerated startle response, Dystonia, Increased serum beta-hexosaminidase, Tremor, Inability to... |
ORPHA:845 |
Hypermanganesemia With Dystonia 1 |
|
Steppage gait, Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbiliru... |
OMIM:613280 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Emotional lability, Hyperactivity, Self-mutilation |
OMIM:256800 |
Argininemia |
|
Irritability, Hyperactivity, Spastic gait, Anorexia |
OMIM:207800 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Ataxia, Akinesia, Phonic tics, Depression, Choreoathetosis, Dementia, Gait disturb... |
OMIM:234200 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia |
ORPHA:367 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Inability to walk, Exaggerated startle response |
OMIM:609541 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Ataxia, Hypoalbuminemia, Dysmetria, Hypocholesterolemia |
OMIM:212065 |
Niemann-Pick Disease Type C |
|
Ataxia, Progressive neurologic deterioration, Aggressive behavior, Mental deterioration, Depressi... |
ORPHA:646 |
Fg Syndrome Type 1 |
|
Broad-based gait, Abnormal social behavior, Compulsive behaviors, Attention deficit hyperactivity... |
ORPHA:93932 |
Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Hypoalbuminemia, Dysphagia |
ORPHA:85443 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Allodynia, Anorexia |
ORPHA:51890 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirubinemia |
OMIM:251880 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ataxia |
OMIM:618598 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response |
OMIM:620114 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Confusion, Anorexia, Aggressive behavior, Hyp... |
ORPHA:99826 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Difficulty walking |
ORPHA:320406 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hyperactivity, Hypoalbuminemia |
OMIM:235510 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Dysdiadochokinesis, Gait disturbance, Hyperglycine... |
ORPHA:309854 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased prealb... |
ORPHA:37042 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
Spinal Arteriovenous Metameric Syndrome |
|
Abnormal spinal cord morphology, Spinal arteriovenous malformation |
ORPHA:53721 |
Alg12-Cdg |
|
Hyponatremia, Hypoalbuminemia, Hypocholesterolemia |
ORPHA:79324 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response, Ataxia |
OMIM:616881 |
Complex Regional Pain Syndrome |
|
Allodynia |
ORPHA:83452 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... |
OMIM:617156 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:619055 |
Choreoacanthocytosis |
|
Bradyphrenia, Short attention span, Self-mutilation of tongue and lips due to involuntary movemen... |
ORPHA:2388 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Broad-based gait, Ataxia, Exaggerated startle response, Dystonia |
ORPHA:438216 |
Prader-Willi Syndrome Due To Translocation |
|
Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive behaviors, Attention deficit hyp... |
ORPHA:177907 |
Galloway-Mowat Syndrome 1 |
|
Hypoalbuminemia, Ataxia |
OMIM:251300 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Inability to walk, Abnormal social behavior, Irritability, Abnormal aggressive, impulsive or viol... |
ORPHA:1675 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Tuberous Sclerosis Complex |
|
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Depression, Self... |
ORPHA:805 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Inability to walk, Hypoalbuminemia |
ORPHA:505248 |
Solitary Bone Cyst |
|
Abnormal spinal cord morphology |
ORPHA:83468 |
Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia |
ORPHA:186 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia |
OMIM:617729 |
Trigeminal Neuralgia |
|
Allodynia |
ORPHA:221091 |
Xfe Progeroid Syndrome |
|
Hypoalbuminemia |
OMIM:610965 |
Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia |
ORPHA:67 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Hair-pulling, Irritability, Dysphagia, Abnormal repetitive mannerisms |
ORPHA:447997 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Inability to walk, Exaggerated startle response |
OMIM:617864 |
Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Exaggerated startle response |
OMIM:617281 |
Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Decreased prealbumin level, Hypoalbuminemia, Hypoc... |
ORPHA:90363 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... |
ORPHA:465508 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Primary Sclerosing Cholangitis |
|
Hypoalbuminemia, Depression |
ORPHA:171 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Elevated circulating thymidine concentration, Elevated circulating deoxyuridine concentration, Al... |
OMIM:603041 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating fatty-acid concentration, Abnormal circulating lipid concentration, Hypotrig... |
ORPHA:2298 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Elevated circulating creatine kinase concentration |
OMIM:253800 |
Acute Disseminated Encephalomyelitis |
|
Irritability, Abnormal spinal cord morphology, Myelitis, Aggressive behavior |
ORPHA:83597 |
Dominant Beta-Thalassemia |
|
Irritability, Abnormality of iron homeostasis |
ORPHA:231226 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353281 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Dysphagia |
OMIM:617301 |
Sandhoff Disease |
|
Exaggerated startle response, Ataxia |
OMIM:268800 |
Mend Syndrome |
|
Hyperactivity, Abnormal social behavior, Aggressive behavior |
ORPHA:401973 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Smith-Lemli-Opitz Syndrome |
|
Hyperactivity, Aggressive behavior, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol co... |
OMIM:270400 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Neurotrophic Keratopathy |
|
Allodynia |
ORPHA:137596 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypoalbuminemia |
ORPHA:79396 |
Beta-Thalassemia Major |
|
Irritability, Abnormality of iron homeostasis |
ORPHA:231214 |
Goodpasture Syndrome |
|
Anemia, Increased blood urea nitrogen |
OMIM:233450 |
Immunodeficiency 82 With Systemic Inflammation |
|
Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Hypernatremia, Anorexia |
OMIM:619381 |
Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response, Hypoasparaginemia |
OMIM:615574 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia |
OMIM:613658 |
Plaa-Associated Neurodevelopmental Disorder |
|
Impaired oropharyngeal swallow response, Exaggerated startle response, Dystonia |
ORPHA:521426 |
Beta-Thalassemia Intermedia |
|
Abnormality of iron homeostasis, Elevated hepatic iron concentration |
ORPHA:231222 |
Juvenile Polyposis Of Infancy |
|
Hypoalbuminemia |
ORPHA:79076 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Abnormal spinal cord morphology |
ORPHA:88628 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Dysphagia |
OMIM:617527 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Dystonia |
ORPHA:79255 |
Adrenomyeloneuropathy |
|
Dorsal column degeneration, Atrophy of the spinal cord, Abnormal spinal cord morphology |
ORPHA:139399 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353277 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Abnormal social behavior, Inappropriate laughter, Attention deficit hyperactivity disorder, Overf... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Abnormal social behavior, Inappropriate laughter, Attention deficit hyperactivity disorder, Overf... |
ORPHA:363958 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Osteopenia, Broad-based gait, Exaggerated startle response, Dystonia, Decreased serum iron, Inabi... |
ORPHA:438213 |
Amoebiasis Due To Free-Living Amoebae |
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Irritability, Abnormal spinal cord morphology, Restlessness |
ORPHA:68 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... |
OMIM:619534 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response, Dysphagia |
OMIM:618367 |
Benign Schwannoma |
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Allodynia |
ORPHA:252164 |
Superficial Siderosis |
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Atrophy of the spinal cord, Abnormal spinal cord morphology |
ORPHA:247245 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
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Hypoalbuminemia |
OMIM:614748 |
Williams Syndrome |
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Ataxia, Dysmetria, Depression, Gait disturbance, Gait imbalance, Attention deficit hyperactivity ... |
ORPHA:904 |
Syndromic Diarrhea |
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Abnormality of iron homeostasis |
ORPHA:84064 |
Tropical Endomyocardial Fibrosis |
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Hypoalbuminemia |
ORPHA:75565 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Exaggerated startle response, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis... |
OMIM:619522 |
Primary Sjögren Syndrome |
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Abnormal spinal cord morphology, Depression |
ORPHA:289390 |
Mosaic Trisomy 20 |
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Abnormal spinal cord morphology |
ORPHA:1724 |
Tetrasomy 9P |
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Hyperactivity, Abnormal spinal cord morphology, Inappropriate behavior |
ORPHA:3310 |
Limb Body Wall Complex |
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Abnormal spinal cord morphology, Spina bifida occulta, Spina bifida |
ORPHA:2369 |
Pmm2-Cdg |
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Reduced thyroxin-binding globulin, Hypoalbuminemia, Ataxia |
ORPHA:79318 |
Intellectual Developmental Disorder, Autosomal Recessive 76 |
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Self-injurious behavior |
OMIM:619931 |