Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Osteopathia striata, Abnormality of the metaphysis, Coarse metaphyseal trabecularization, Abnorma... |
ORPHA:2779 |
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Abnormality of pelvic girdle bone morphology, Short toe, Abnormality of long bone morphology, Sho... |
OMIM:259270 |
Glycogen Storage Disease Vi |
|
Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceri... |
OMIM:232700 |
Chylomicron Retention Disease |
|
Hypocholesterolemia, Failure to thrive, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decrea... |
OMIM:246700 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia |
OMIM:306000 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Truncal obesity, Neonatal hypoglycemia, Large for gestational age, Abno... |
ORPHA:293964 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... |
ORPHA:79506 |
Coxopodopatellar Syndrome |
|
Abnormality of epiphysis morphology, Abnormality of pelvic girdle bone morphology, Aplasia/Hypopl... |
ORPHA:1509 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Large for gestational age, Neonatal hypoglycemia |
OMIM:240900 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Distal Arthrogryposis Type 1 |
|
Adducted thumb, Rocker bottom foot, Ulnar deviation of finger, Overlapping fingers, Camptodactyly... |
ORPHA:1146 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age |
OMIM:601820 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Hypercholesterolemia, Hypertrigl... |
OMIM:610947 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Hypocholesterolemia, Decreased LDL cholesterol concentration, Failure to thrive |
OMIM:616834 |
Spinocerebellar Ataxia 14 |
|
Cerebellar atrophy, Dysmetria, Focal dystonia, Progressive cerebellar ataxia, Mental deterioratio... |
OMIM:605361 |
Short Stature Due To Ghsr Deficiency |
|
Hypoglycemia, Decreased body weight, Abnormality of body weight |
ORPHA:314811 |
Beukes Hip Dysplasia |
|
Flat capital femoral epiphysis, Wide proximal femoral metaphysis, Avascular necrosis of the capit... |
OMIM:142669 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Failure to thrive, Hypoglycemia |
OMIM:617950 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia |
OMIM:610021 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... |
ORPHA:411593 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Riboflavin Deficiency |
|
Hypoglycemia, Elevated circulating acylcarnitine concentration |
OMIM:615026 |
Growth Hormone Insensitivity Syndrome |
|
Hypoglycemia, Type II diabetes mellitus, Insulin resistance, Failure to thrive, Truncal obesity, ... |
ORPHA:181393 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resistance, Increased... |
OMIM:615703 |
Hypochondroplasia |
|
Genu varum, Abnormality of pelvic girdle bone morphology, Flared metaphysis, Short long bone, Bra... |
OMIM:146000 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal dysplasia, Genu varum, Metaphyseal cupping of metacarpals, Metaphyseal irregularity, ... |
OMIM:250460 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Abnormality of ... |
ORPHA:1802 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Small for gestational age, Mat... |
ORPHA:324575 |
Juvenile Huntington Disease |
|
Dystonia, Dementia, Cerebellar atrophy, Bradykinesia, Hyperactivity, Progressive cerebellar ataxi... |
ORPHA:248111 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity |
OMIM:617796 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Cerebellar atrophy, Ataxia |
OMIM:613402 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk |
OMIM:616657 |
Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia |
OMIM:610539 |
Peroxisome Biogenesis Disorder 3B |
|
Hypocholesterolemia, Steatorrhea, Failure to thrive |
OMIM:266510 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Failure to thrive in infancy, Abnormal circulating leucine concentration, Hypoglycemia, Hyperammo... |
ORPHA:6 |
Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity |
OMIM:615493 |
Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Failure to thrive, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity |
ORPHA:356996 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I ... |
OMIM:618858 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Dystonia, Mental deterioration, Ataxia |
OMIM:615924 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait disturbance, Cerebellar atrophy, Dysmetria, Hyperactivity, Inability to walk |
OMIM:618090 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Failure to thrive, Hyperbilirubinemia, Hypercholesterole... |
OMIM:605814 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:603813 |
Squalene Synthase Deficiency |
|
Failure to thrive in infancy, Hypocholesterolemia, Increased circulating farnesol concentration, ... |
OMIM:618156 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Aminoacylase 1 Deficiency |
|
Hyperactivity, Cerebellar atrophy |
OMIM:609924 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormality of the metaphysis, Brachydactyly, Hip dysplasia, Abnormality of pelvic girdle bone mo... |
ORPHA:2370 |
Hyperlipidemia, Familial Combined, 3 |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... |
OMIM:144250 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hypocholesterolemia, Steatorrhea, Hyperbilirubinemia, Failure to thrive |
OMIM:607765 |
Potocki-Lupski Syndrome |
|
Hypocholesterolemia, Small for gestational age, Failure to thrive |
OMIM:610883 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Hyperlipidemia, Failure to thrive, Glycosuria, Ketotic hypoglycemia, Postprandial hyperglycemia |
ORPHA:2089 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Small for gestational age, Hyperalaninemia, Hyperammonemia, Elevated circulating se... |
OMIM:615160 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Tarsal synostosis, Abnormality of tibia morphology, Abnormality of the ulna, Abnormality of epiph... |
ORPHA:2639 |
Chylomicron Retention Disease |
|
Hypocholesterolemia, Steatorrhea, Failure to thrive |
ORPHA:71 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity |
OMIM:608747 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Genital neoplasm, Hypoglycemia, Neoplasm of the lung, Neoplasia of the pleura, Soft tissue neopla... |
ORPHA:2126 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Failure to thrive, Hypoglycemia, Small for gestational age, Hyperalaninemia |
OMIM:614702 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Bowing of the long bones, Arachnodactyly, Sandal gap, Abnormality of pelvic girdle bone morpholog... |
ORPHA:2725 |
Hyperlysinemia, Type I |
|
Hyperactivity, Cognitive impairment |
OMIM:238700 |
Progressive Supranuclear Palsy |
|
Dystonia, Dementia, Cognitive impairment, Falls, Bradykinesia, Abnormal synaptic transmission, Un... |
ORPHA:683 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Increased circulating cort... |
ORPHA:79644 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Elevated circulating creatine kinase concentration, Hypocholesterolemia, Abetalipoproteinemia, Ty... |
ORPHA:96180 |
Weismann-Netter Syndrome |
|
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... |
ORPHA:3344 |
Lennox-Gastaut Syndrome |
|
Mental deterioration, Hyperactivity, Falls |
ORPHA:2382 |
Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Hypochondroplasia |
|
Genu varum, Abnormality of femur morphology, Bowing of the long bones, Abnormality of the metaphy... |
ORPHA:429 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Failure to thrive, Hypoglycemia, Hypoalbuminemia |
OMIM:617156 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitu... |
OMIM:262190 |
Galactokinase Deficiency |
|
Hypergalactosemia, Hypoglycemia, Small for gestational age, Failure to thrive, Hypercholesterolem... |
ORPHA:79237 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia, Hypoglycemia, Failure to thrive |
OMIM:614736 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Tarsal synostosis, Abnormally shaped carpal bones, Cuboidal metacarpal, Hip dislocation, Short me... |
ORPHA:968 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... |
ORPHA:240 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Ulnar deviation of finger, Abnormality of pelvic girdle bone morphology, Brachydactyly, Camptodac... |
ORPHA:2928 |
Glucocorticoid Deficiency 2 |
|
Recurrent hypoglycemia, Decreased circulating cortisol level |
OMIM:607398 |
Mody |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemic hypoglycemia, Glucose intole... |
ORPHA:552 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Metatarsal diaphyseal endosteal sclerosis, Abnormality of pelvic girdle bone morphology, Thickene... |
OMIM:144750 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Jeune Syndrome |
|
Toe syndactyly, Cone-shaped epiphysis, Abnormality of the metaphysis, Short foot, Postaxial foot ... |
ORPHA:474 |
Coxoauricular Syndrome |
|
Abnormality of pelvic girdle bone morphology, Hip dislocation, Abnormality of femur morphology |
ORPHA:1508 |
Cln5 Disease |
|
Cerebellar atrophy, Dysmetria, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Trun... |
ORPHA:228360 |
Xq25 Microduplication Syndrome |
|
Hyperactivity, Cerebellar hypoplasia |
ORPHA:521258 |
Chromosome Xq25 Duplication Syndrome |
|
Hyperactivity, Cerebellar hypoplasia |
OMIM:300979 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormality of pelvic girdle bone morphology, Slender long bone |
ORPHA:1506 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Hydrocephalus, Broad-based gait |
OMIM:619470 |
Landau-Kleffner Syndrome |
|
Steppage gait, Social and occupational deterioration, Hyperactivity, Attention deficit hyperactiv... |
ORPHA:98818 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Carnitine Deficiency, Systemic Primary |
|
Hypoglycemia, Failure to thrive, Hyperammonemia, Recurrent hypoglycemia, Impaired gluconeogenesis... |
OMIM:212140 |
Propionic Acidemia |
|
Hypoglycemia, Hyperammonemia |
ORPHA:35 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia |
OMIM:239500 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
Thoracomelic Dysplasia |
|
Diaphyseal thickening, Abnormality of the metaphysis, Genu valgum, Abnormality of fibula morpholo... |
ORPHA:1803 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Hyperammonemia |
ORPHA:664 |
Glycine Encephalopathy |
|
Hyperactivity, Lethargy |
OMIM:605899 |
Atelosteogenesis, Type Ii |
|
Short middle phalanx of finger, Short greater sciatic notch, Bifid humerus, Hitchhiker thumb, San... |
OMIM:256050 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity |
OMIM:619031 |
Proprotein Convertase 1/3 Deficiency |
|
Obesity, Reactive hypoglycemia, Decreased circulating cortisol level |
OMIM:600955 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Insulin-Resistance Syndrome Type B |
|
Fasting hypoglycemia, Abnormality of body weight, Insulin-resistant diabetes mellitus, Fasting hy... |
ORPHA:2298 |
Optic Atrophy 11 |
|
Dysmetria, Hyperactivity, Ataxia, Cerebellar hypoplasia |
OMIM:617302 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia |
OMIM:618810 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity |
OMIM:248510 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Progressive psychomotor deterioration, Cognitive impairment, Hyperactivity, Ataxia, Gait ataxia, ... |
ORPHA:363400 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Lethargy |
OMIM:274270 |
Infantile Neuroaxonal Dystrophy |
|
Dystonia, Gait disturbance, Psychomotor deterioration, Cerebellar atrophy, Cerebellar gliosis, Hy... |
ORPHA:35069 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypocholesterolemia, Failure to thrive, Hypoalbuminemia |
OMIM:212065 |
Rasmussen Subacute Encephalitis |
|
Hemidystonia, Cognitive impairment, Hyperactivity, Inability to walk, Attention deficit hyperacti... |
ORPHA:1929 |
Morm Syndrome |
|
Hyperactivity |
ORPHA:75858 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Hypoglycemia, Glycosuria, Large for gestational age, Diabetes mellitus |
OMIM:616026 |
Gomez-Lopez-Hernandez Syndrome |
|
Agenesis of cerebellar vermis, Cognitive impairment, Hyperactivity, Ataxia, Cerebellar vermis hyp... |
OMIM:601853 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:277460 |
Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration |
OMIM:603776 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Failure to thrive, Abnormal circula... |
ORPHA:14 |
Alg12-Cdg |
|
Hyponatremia, Hypocholesterolemia, Failure to thrive, Recurrent hypoglycemia, Hypoalbuminemia |
ORPHA:79324 |
Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia, Adrenocortical adenoma, Zollinger-Ellison syndrome, Hypoglycemia, Adenoma sebaceum... |
OMIM:131100 |
Femoral-Facial Syndrome |
|
Coxa vara, Hip dysplasia, Abnormality of fibula morphology, Abnormality of pelvic girdle bone mor... |
ORPHA:1988 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Tibial bowing, Fibular bowing, Bowing of the legs, Enamel hypomineralization, Metaphyseal irregul... |
OMIM:307800 |
Mental Retardation, Autosomal Recessive 13 |
|
Hyperactivity, Abnormal cerebellar vermis morphology |
OMIM:613192 |
Pycnodysostosis |
|
Abnormality of pelvic girdle bone morphology, Osteolytic defects of the distal phalanges of the h... |
OMIM:265800 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity |
OMIM:615541 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Gait disturbance, Dementia, Cerebellar atrophy, Hyperactivity, Inability to walk, Ataxia, Mental ... |
ORPHA:168491 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Hypoglycemia, Decreased circulating cortisol ... |
OMIM:618838 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Osteogenesis Imperfecta, Type V |
|
Abnormality of pelvic girdle bone morphology, Anterior radial head dislocation, Dentinogenesis im... |
OMIM:610967 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypercholesterolemia, Abdominal obesity, Truncal obesity |
OMIM:615812 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Short clavicles, Hypoplastic scapulae, Congenital diaphragmatic hernia, Absent thumb, Bowed humer... |
OMIM:618022 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Cerebellar atrophy, Ataxia |
OMIM:271980 |
Secondary Intestinal Lymphangiectasia |
|
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypocholesterolemia, L... |
ORPHA:90363 |
Glycogen Storage Disease Ixc |
|
Fasting hypoglycemia, Hypoglycemia, Hypertriglyceridemia |
OMIM:613027 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Dystonia, Cerebellar atrophy, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Mental ... |
OMIM:610217 |
Moebius Syndrome |
|
Lower limb undergrowth, Arthrogryposis multiplex congenita, Aplasia/Hypoplasia involving the meta... |
OMIM:157900 |
Osteopetrosis, Autosomal Dominant 1 |
|
Abnormality of pelvic girdle bone morphology, Thickened cortex of long bones |
OMIM:607634 |
Verloove Vanhorick-Brubakk Syndrome |
|
Tarsal synostosis, Abnormality of femur morphology, Finger syndactyly, Abnormality of pelvic gird... |
ORPHA:3429 |
Kaufman Oculocerebrofacial Syndrome |
|
Hypocholesterolemia, Failure to thrive |
OMIM:244450 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia, Failure to thrive, Hyperammonemia, Elevated alpha-fetoprotein, Conjugated hyperbili... |
OMIM:617049 |
Intellectual Disability, Birk-Barel Type |
|
Fatiguable weakness of proximal limb muscles, Hyperactivity, Fatigable weakness of skeletal muscles |
ORPHA:166108 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Abnormality of pelvic girdle bone morphology, Stippled calcification proximal humeral epiphyses, ... |
OMIM:222765 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormal neuron morphology, Hyperactivity, Ataxia, Cerebellar vermis atrophy, Mental deterioratio... |
ORPHA:163681 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Hyperactivity, Dystonia |
ORPHA:88616 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Dystonia, Ataxia |
OMIM:612716 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Metaphyseal widening, Abnormality of pelvic girdle bone morphology, Club-shaped distal femur, Erl... |
OMIM:123000 |
Phenylketonuria |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:261600 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Hypoglycemia, Failure to thrive |
OMIM:210200 |
X-Linked Adrenoleukodystrophy |
|
Gait disturbance, Dementia, Cognitive impairment, Hyperactivity, Attention deficit hyperactivity ... |
ORPHA:43 |
Grant Syndrome |
|
Abnormality of the glenoid fossa, Abnormality of pelvic girdle bone morphology, Bowing of the lon... |
ORPHA:2097 |
Mend Syndrome |
|
Dandy-Walker malformation, Hyperactivity, Hydrocephalus |
OMIM:300960 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Ataxia, Broad-based gait |
ORPHA:411515 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Unsteady gait, Hyperactivity, Broad-based gait |
OMIM:617865 |
Codas Syndrome |
|
Abnormality of epiphysis morphology, Abnormal dental enamel morphology, Congenital hip dislocatio... |
ORPHA:1458 |
Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
Tangier Disease |
|
Hypocholesterolemia, Hypertriglyceridemia |
ORPHA:31150 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Progressive language deterioration |
OMIM:610042 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Hyperactivity, Cerebellar atrophy |
ORPHA:369939 |
Aredyld Syndrome |
|
Abnormality of pelvic girdle bone morphology, Lipoatrophy, Abnormal dental enamel morphology, Bra... |
ORPHA:1133 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Hand oligodactyly, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Finger syndactyly, Aplas... |
ORPHA:1788 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Broad-based gait |
ORPHA:457260 |
Osteopetrosis, Autosomal Dominant 2 |
|
Fractures of the long bones, Abnormality of pelvic girdle bone morphology |
OMIM:166600 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Dystonia, Athetosis, Ataxia |
ORPHA:382 |
47,Xyy Syndrome |
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Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Hyperactivity, Hydrocephalus, Attentio... |
ORPHA:8 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Hyperactivity, Shuffling gait, Broad-based gait |
ORPHA:3077 |
X-Linked Cerebral Adrenoleukodystrophy |
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Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Mental deterioration, Diff... |
ORPHA:139396 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
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Hyperactivity, Dystonia, Inability to walk, Gait ataxia |
ORPHA:500180 |
Smith-Lemli-Opitz Syndrome |
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Hypocholesterolemia, Facial capillary hemangioma, Failure to thrive, Elevated 7-dehydrocholesterol |
OMIM:270400 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
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Disorganization of the anterior cerebellar vermis, Hyperactivity, Cerebellar vermis hypoplasia, C... |
OMIM:300486 |
Mucopolysaccharidosis, Type Iiib |
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Hyperactivity, Progressive neurologic deterioration |
OMIM:252920 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
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Unsteady gait, Hyperactivity |
OMIM:615516 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
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Hyperkalemia, Hyponatremia, Hypoglycemia, Failure to thrive, Endometrial carcinoma, Breast carcin... |
ORPHA:90790 |
Cleidocranial Dysplasia |
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Short clavicles, Hypoplastic scapulae, Tapered finger, Abnormality of epiphysis morphology, Hypop... |
ORPHA:1452 |
Chondrodysplasia-Disorder Of Sex Development Syndrome |
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Broad long bones, Short metacarpal, Abnormality of pelvic girdle bone morphology, Short phalanx o... |
ORPHA:1422 |
Myopathy With Extrapyramidal Signs |
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Dystonia, Cerebellar dysplasia, Hyperactivity, Ataxia, Difficulty walking |
OMIM:615673 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
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Hyperactivity, Abnormal pons morphology |
ORPHA:85327 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:618504 |
Intellectual Developmental Disorder, X-Linked 107 |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301013 |
Chromosome 15Q25 Deletion Syndrome |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:614294 |
Osteogenesis Imperfecta, Type Ii |
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Crumpled long bones, Abnormality of pelvic girdle bone morphology, Tibial bowing, Broad long bones |
OMIM:166210 |
Isolated Epispadias |
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Abnormality of pelvic girdle bone morphology |
ORPHA:93928 |
Mucopolysaccharidosis, Type Iiic |
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Hyperactivity, Motor deterioration |
OMIM:252930 |
Paget Disease Of Bone 2, Early-Onset |
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Fractures of the long bones, Bowing of the long bones, Abnormality of pelvic girdle bone morphology |
OMIM:602080 |
Legius Syndrome |
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Dystonia, Cognitive impairment, Hyperactivity, Chiari type I malformation, Attention deficit hype... |
ORPHA:137605 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
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Hyperactivity |
OMIM:615824 |
Bladder Exstrophy And Epispadias Complex |
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Abnormality of pelvic girdle bone morphology, Inguinal hernia |
OMIM:600057 |
Adenylosuccinase Deficiency |
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Hyperactivity, Inability to walk, Gait ataxia, Cerebellar atrophy |
OMIM:103050 |
Graves Disease, Susceptibility To, 1 |
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Hyperactivity |
OMIM:275000 |
X-Linked Creatine Transporter Deficiency |
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Hyperactivity, Dystonia, Athetosis, Ataxia |
ORPHA:52503 |
Spastic Paraplegia 9A, Autosomal Dominant |
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Abnormality of pelvic girdle bone morphology, Hiatus hernia, Carpal bone hypoplasia |
OMIM:601162 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Dystonia, Gait disturbance, Dementia, Bradykinesia, Hyperactivity, Ataxia, Akinesia, Mental deter... |
OMIM:234200 |
Cartilage-Hair Hypoplasia |
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Metaphyseal dysplasia, Metaphyseal widening, Short palm, Femoral bowing, Abnormality of pelvic gi... |
OMIM:250250 |
Harrod Syndrome |
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Abnormality of pelvic girdle bone morphology, Arachnodactyly, Abnormal shoulder morphology |
ORPHA:2115 |
Intellectual Disability, Buenos-Aires Type |
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Abnormality of pelvic girdle bone morphology, Clinodactyly of the 5th finger, Umbilical hernia |
ORPHA:3079 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
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Toe syndactyly, Aplasia/Hypoplasia of the phalanges of the toes, Aplasia/Hypoplasia of the phalan... |
ORPHA:1112 |
Meier-Gorlin Syndrome 1 |
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Cutaneous finger syndactyly, Absent glenoid fossa, Genu varum, Aplasia/Hypoplasia of the patella,... |
OMIM:224690 |
Citrullinemia Type Ii |
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Hyperactivity, Memory impairment, Lethargy |
ORPHA:247585 |
Primary Fanconi Renotubular Syndrome |
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Hypouricemia, Hypoglycemia, Hypokalemia, Weight loss, Hypophosphatemia, Glycosuria, Hyperuricosur... |
ORPHA:3337 |
Joubert Syndrome 1 |
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Dysgenesis of the cerebellar vermis, Occipital myelomeningocele, Agenesis of cerebellar vermis, H... |
OMIM:213300 |
Glycogen Storage Disease Ic |
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Hypoglycemia, Hepatocellular carcinoma, Hyperlipidemia, Hepatoblastoma, Hyperuricemia, Xanthelasma |
OMIM:232240 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
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Tarsal stippling, Polydactyly, Postaxial polydactyly, Epiphyseal stippling, Stippled calcificatio... |
OMIM:302960 |
Camurati-Engelmann Disease |
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Cortical thickening of long bone diaphyses, Abnormal diaphysis morphology, Abnormality of the uln... |
ORPHA:1328 |
Sclerosteosis 1 |
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Deviation of finger, Abnormality of pelvic girdle bone morphology, 2-3 finger syndactyly, Cortica... |
OMIM:269500 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
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Hyperactivity |
OMIM:618314 |
Mucopolysaccharidosis Type 3 |
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Gait disturbance, Dementia, Loss of ambulation, Progressive neurologic deterioration, Hyperactivi... |
ORPHA:581 |
Cartilage-Hair Hypoplasia |
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Metaphyseal dysplasia, Diaphyseal thickening, Tibial bowing, Abnormality of epiphysis morphology,... |
ORPHA:175 |
Spondylocarpotarsal Synostosis Syndrome |
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Tarsal synostosis, Capitate-hamate fusion, Epiphyseal dysplasia, Coxa vara, Carpal synostosis, Sh... |
OMIM:272460 |
Caudal Regression Sequence |
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Abnormal iliac wing morphology, Abnormality of pelvic girdle bone morphology |
ORPHA:3027 |
Argininemia |
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Hyperactivity, Spastic gait, Cerebellar atrophy |
OMIM:207800 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
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Dysmetria, Hyperactivity, Ataxia, Cerebellar hypoplasia, Unsteady gait |
OMIM:614756 |
Hyperthyroidism, Nonautoimmune |
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Hyperactivity |
OMIM:609152 |
Mucopolysaccharidosis Type 2 |
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Communicating hydrocephalus, Cognitive impairment, Progressive neurologic deterioration, Hyperact... |
ORPHA:580 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Hyperactivity, Olivopontocerebellar hypoplasia, Hydrocephalus |
ORPHA:457284 |
Choreoacanthocytosis |
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Lingual dystonia, Loss of ambulation, Bradyphrenia, Oromandibular dystonia, Falls, Bradykinesia, ... |
ORPHA:2388 |
Histidinemia |
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Hyperactivity |
ORPHA:2157 |
Saethre-Chotzen Syndrome |
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Absent first metatarsal, Toe syndactyly, Hallux valgus, Partial duplication of the distal phalanx... |
OMIM:101400 |
Familial Gestational Hyperthyroidism |
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Hyperactivity |
ORPHA:99819 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Hyperactivity |
ORPHA:424 |
Fetal Akinesia Deformation Sequence 1 |
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Rocker bottom foot, Arthrogryposis multiplex congenita, Slender long bone, Camptodactyly of finge... |
OMIM:208150 |