| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... |
ORPHA:766 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Pseudopseudohypoparathyroidism |
|
Short distal phalanx of the 3rd finger, Short metatarsal, Obesity, Hyperphosphatemia, Short 5th f... |
ORPHA:79445 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia, Aggressive behavior, Clinodactyly of the 5th finger, Clinodactyly of the 5t... |
OMIM:618010 |
| Pseudohypoparathyroidism, Type Ib |
|
Short metacarpal, Obesity, Hyperphosphatemia, Hypocalcemia, Brachydactyly |
OMIM:603233 |
| Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia... |
OMIM:155100 |
| Iron-Refractory Iron Deficiency Anemia |
|
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hypertriglyceridemia, Failure to thrive in infancy |
OMIM:619175 |
| Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Failure to thrive in infancy |
OMIM:232700 |
| Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
| Basal Ganglia Calcification, Idiopathic, 5 |
|
Cerebral calcification, Cerebellar calcifications, Basal ganglia calcification, Depression, Demen... |
OMIM:615483 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
| Bernard-Soulier Syndrome |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... |
OMIM:231200 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno... |
OMIM:616860 |
| Coasy Protein-Associated Neurodegeneration |
|
Abnormal globus pallidus morphology, Abnormal caudate nucleus morphology, Eye of the tiger anomal... |
ORPHA:397725 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen |
OMIM:620085 |
| Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... |
OMIM:112910 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Bowing of the legs, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Metaphyseal cupping, Genu ... |
OMIM:619073 |
| Tubulinopathy-Associated Dysgyria |
|
Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Abnormal brainstem morphology... |
ORPHA:467166 |
| Myh9-Related Disease |
|
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... |
ORPHA:182050 |
| Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Syndactyly, Small for gestational age, Anisocytosis, Anemia of... |
OMIM:224120 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Normochromic anemia, Hypertriglyceridemia, Hemolytic anemia |
OMIM:245900 |
| Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt... |
OMIM:607616 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Syndactyly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilo... |
OMIM:615631 |
| Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Diffuse cerebral atrophy, Decreased thalamic volume, Hypoplasia of the brainstem, Secondary micro... |
OMIM:613668 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Caudate atrophy, Basal ganglia calcification, T2 hypointense thalamus, Leukoencephalopathy, Demen... |
OMIM:618193 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
| Pseudohypoparathyroidism, Type Ia |
|
Short metacarpal, Short toe, Short metatarsal, Obesity, Hyperphosphatemia, Short finger, Hypocalc... |
OMIM:103580 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Short attention span, Mild malformation of cortical development, Dysplastic corpus callosum, Abno... |
ORPHA:500166 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Abnormality of the anterior commissure, Hypoplasia of the pons, Absent hippocampal commissure, Mi... |
OMIM:617542 |
| Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
| Pseudohypoparathyroidism, Type Ic |
|
Short metacarpal, Short metatarsal, Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany... |
OMIM:612462 |
| Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Anemia, Hemopha... |
OMIM:603552 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Hypertriglyceridemia |
OMIM:615924 |
| Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
| Blue Diaper Syndrome |
|
Increased body weight, Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
| Alexander Disease Type I |
|
Cerebellar atrophy, Cachexia, Abnormal thalamic MRI signal intensity, Abnormal cerebral white mat... |
ORPHA:363717 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Polyphagia, Obesity, Childhood-onset truncal obesity |
ORPHA:71529 |
| Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... |
OMIM:615703 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612924 |
| Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... |
OMIM:249700 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
OMIM:616516 |
| Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Hypop... |
OMIM:604213 |
| Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... |
OMIM:153670 |
| 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 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... |
ORPHA:98870 |
| Papular Xanthoma |
|
Hyperlipidemia, Histiocytosis |
ORPHA:158008 |
| Cach Syndrome |
|
Cerebellar atrophy, Progressive neurologic deterioration, Microcephaly, T2 hypointense thalamus, ... |
ORPHA:135 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
| Hyperlysinemia, Type I |
|
Hyperactivity, Hyperlysinemia, Anemia |
OMIM:238700 |
| Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Simplified gyral pattern, ... |
ORPHA:300570 |
| Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Cerebellar atrophy, Short stature, Dysphagia, Hypoplasia of the corpus callosum, Atrophy/Degenera... |
OMIM:617862 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
| Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Microcephaly, Simplified gyral pattern, Decreased thalamic volume, Hypoplasia of the brainstem, C... |
OMIM:619072 |
| Hypertriglyceridemia, Transient Infantile |
|
Splenomegaly, Failure to thrive, Hypertriglyceridemia |
OMIM:614480 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... |
OMIM:613101 |
| Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94090 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki... |
OMIM:300908 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dys... |
ORPHA:300573 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612925 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia |
OMIM:610947 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Micrognathia, Small hand, Short foot, Hyperphosphatemia, Hypocalcemia, Short palm, Hypocalcemic s... |
OMIM:241410 |
| Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Neutral Lipid Storage Disease With Myopathy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
OMIM:610717 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Cerebral atrophy, Depression, Abnormal cerebral white matter morphology, Foca... |
ORPHA:79264 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Brachydactyly |
DECIPHER:8 |
| Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Small for gestational age, Hyperphosphatemia, Hypocalcemia, Thickened... |
OMIM:127000 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Cerebellar atrophy, Microcephaly, Hypoplasia of the pons, Dysplastic corpus callosum, Failure to ... |
OMIM:618276 |
| Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
| Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Short metacarpal, Short fifth metatarsal, Short metatarsal, Polyphagia, Obesity, Hype... |
ORPHA:79444 |
| Smith-Magenis Syndrome |
|
Pes planus, Hyperactivity, Hypertriglyceridemia, Synophrys, Self hugging, Increased body weight, ... |
OMIM:182290 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Achilles tendon calcification, Hyperphosphatemia, Metacarpal periosteal thickening, Hypercalcemia |
OMIM:617994 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Bowing of the legs, Abnormal circulating calcium concentration, Tra... |
OMIM:307800 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
| N-Acetylaspartate Deficiency |
|
Short attention span, Short stature, Microcephaly, Secondary microcephaly, Decreased body weight,... |
OMIM:614063 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Micrognathia |
ORPHA:436182 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Basal ganglia calcification, Thalamic calcification, Dysphagia, Mental deterioration, Memory impa... |
OMIM:618317 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hyperuricemia, Increase... |
OMIM:613845 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia, Hirsu... |
OMIM:612526 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Severe short stature, Small for gestational age, Cerebral atrophy, Growth delay, Focal T2 hyperin... |
OMIM:619057 |
| Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Mental deterioration, Basal ganglia calcification, Cerebellar calcifications, Thalamic calcification |
OMIM:618824 |
| Neuroferritinopathy |
|
Abnormal dentate nucleus morphology, Caudate atrophy, Abnormal putamen morphology, T2 hypointense... |
ORPHA:157846 |
| Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Agyria, Hypoplastic hippocampus, Cerebellar vermis hypoplasia, Microcep... |
ORPHA:171680 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hypertriglyceridemia, Polyphagia, Obesity |
OMIM:617885 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Short humerus, Bowing of the long bones, Hydroxyprolinemia, Lateral femoral bowing, Hyperphosphat... |
OMIM:239000 |
| Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... |
ORPHA:71275 |
| Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
ORPHA:36913 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... |
OMIM:605274 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circulating ferritin... |
OMIM:300635 |
| Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Cerebellar atrophy, T2 hypointense thalamus, Cerebral atrophy, Dementia, Cognitive impairment, Dy... |
ORPHA:1947 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short metacarpal, Brachydactyly, Small for gestational age, Neonatal epiphyseal stippling, Short ... |
OMIM:101800 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed epiphyseal ossification... |
OMIM:600081 |
| Microcephaly 29, Primary, Autosomal Recessive |
|
Hyperactivity, Simplified gyral pattern, Primary microcephaly, Emotional lability, Enlarged cereb... |
OMIM:620047 |
| Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
| Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
| Leptin Receptor Deficiency |
|
Short stature, Decreased response to growth hormone stimulation test, Aggressive behavior, Abnorm... |
OMIM:614963 |
| Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
| Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... |
ORPHA:398063 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
OMIM:618398 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis |
OMIM:606445 |
| Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Foxg1 Syndrome |
|
Decreased body weight, Short stature, Abnormal repetitive mannerisms, Bruxism, Stereotypical hand... |
ORPHA:561854 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Dys... |
ORPHA:94093 |
| Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
| Lipase Deficiency, Combined |
|
Hypertriglyceridemia |
OMIM:246650 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Olivopontocerebellar hypoplasia, ... |
ORPHA:370959 |
| Sanjad-Sakati Syndrome |
|
Micrognathia, Small hand, Short foot, Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
| Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Short metacarpal, Short fifth metatarsal, Broad 1st metacarpal, Short metatarsal, Pol... |
ORPHA:79443 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Bruxism, Hirsutism |
OMIM:300434 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... |
OMIM:615558 |
| Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Micrognathia, Overweight, Small hand, Obesity, S... |
OMIM:616222 |
| Hypophosphatemic Bone Disease |
|
Bowing of the legs, Hypophosphatemia |
OMIM:146350 |
| Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Pancytopenia, Hypertriglyceridemia, Absent circulating B cells |
OMIM:620282 |
| Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
| Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Enlarged cerebellum, Hypoplasia of the corpus callosum, Microcephaly |
ORPHA:85165 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Restlessness, Hypoplastic hippocampus, Reduced amygdala volume, Microcephaly, Partial agenesis of... |
OMIM:619517 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... |
OMIM:616959 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Microcephaly, Cortical dysplasia, Self-injurious behavior, Secondary microcephaly, Hypoplasia of ... |
OMIM:615282 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Short stature, Microcephaly, Hypoplasia of the pons, Abnormal repetitive mannerisms, Dysphagia, S... |
OMIM:617695 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Microcephaly, Cortical dysplasia, Attention deficit hyperactivity disorder, Abnormal repetitive m... |
OMIM:618709 |
| Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... |
OMIM:618620 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Abnormal circulating calcium co... |
OMIM:241530 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Aggressive behavior, Microcephaly, Abnormal fear-induced behavior, Cortical dysplasia, Pseudobulb... |
ORPHA:208441 |
| Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume, Abnormal basal ganglia morphology |
OMIM:618646 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Partial agenesis of the corpus callosum, Hypoplastic hippocampus, Agenesis of corpus callosum, Ce... |
ORPHA:85179 |
| Septopreoptic Holoprosencephaly |
|
Short attention span, Abnormal midbrain morphology, Impulsivity, Megalencephaly, Hypoplasia of th... |
ORPHA:280195 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
| Bilateral Generalized Polymicrogyria |
|
Hypoplastic hippocampus, Short stature, Microcephaly, Oral-pharyngeal dysphagia, Diffuse white ma... |
ORPHA:208447 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Arachnodactyly, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia |
OMIM:619013 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Cerebral white matter hypoplasia, Colpocephaly, Enlarged cerebellum, Hypoplasia of the corpus cal... |
ORPHA:477993 |
| Protoporphyria, Erythropoietic, 1 |
|
Hemolytic anemia, Hypertriglyceridemia |
OMIM:177000 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal dementia, ... |
ORPHA:275864 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... |
OMIM:235400 |
| Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Cortical subperiosteal resorption of humeral metaphyses, Diaphyseal sclerosis, Hyperp... |
ORPHA:94089 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Abnormal repetitive mannerisms, Hyperactivity, Short stature |
OMIM:300271 |
| Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
| Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Bowing of the legs, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Hyperprolinemia, Aggressive behavior |
OMIM:239500 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ... |
OMIM:274150 |
| Dominant Beta-Thalassemia |
|
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... |
ORPHA:231226 |
| Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia, Polyphagia, Obesity, Aggressive behavior |
ORPHA:329249 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subperiosteal bone resorption, ... |
OMIM:264700 |
| Linear Verrucous Nevus Syndrome |
|
Sparse scalp hair, Short metacarpal, Toe syndactyly, Genu recurvatum, Talipes, Hypophosphatemia |
ORPHA:2611 |
| Slc35A2-Cdg |
|
Increased circulating thyroglobulin level, Camptodactyly of finger, Failure to thrive in infancy,... |
ORPHA:356961 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
| Cholesteryl Ester Storage Disease |
|
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
| Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300496 |
| Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300425 |
| Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinemia |
OMIM:605899 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subperiosteal bone resorption, ... |
OMIM:277440 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... |
OMIM:201170 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Cortical thickening of long bone diaphyses, H... |
ORPHA:93325 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| Stxbp1-Related Encephalopathy |
|
Hyperactivity, Dysplastic corpus callosum, Cerebral white matter atrophy |
ORPHA:599373 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Rocker bottom foot, Anisocytosis, Micrognathia, Camptodactyly, Failure to thrive |
OMIM:604273 |
| Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Rhizomelia, Sandal gap, Small for gestational age, Hypoplasia of the ... |
OMIM:607143 |
| Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit... |
ORPHA:247585 |
| Coffin-Siris Syndrome 12 |
|
Short stature, Microcephaly, Enlarged cerebellum, Chiari malformation, Hippocampal atrophy, Failu... |
OMIM:619325 |
| Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
| Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ... |
OMIM:620317 |
| Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
| Lhermitte-Duclos Disease |
|
Polymicrogyria, Enlarged cerebellum |
ORPHA:65285 |
| Lissencephaly 9 With Complex Brainstem Malformation |
|
Cerebellar vermis hypoplasia, Short stature, Microcephaly, Hypoplasia of the pons, Dysgenesis of ... |
OMIM:618325 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
| Oculoskeletodental Syndrome |
|
Abnormal thalamus morphology, Dysplastic corpus callosum, Focal white matter lesions, Short stature |
ORPHA:557003 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... |
OMIM:613670 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed epiphyseal ossification... |
OMIM:300554 |
| Combined Oxidative Phosphorylation Defect Type 27 |
|
Diffuse cerebral atrophy, Hypoplastic hippocampus, Abnormal cerebral white matter morphology, Hyp... |
ORPHA:477774 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... |
OMIM:614470 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperphosphatemia |
OMIM:211900 |
| Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... |
ORPHA:158061 |
| Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Emotional lability, Agitation, Aggressive behavior |
OMIM:617171 |
| Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
OMIM:613162 |
| Spinocerebellar Ataxia With Epilepsy |
|
Focal T2 hyperintense thalamic lesion, Cerebral infarct, Progressive neurologic deterioration, De... |
ORPHA:254881 |
| Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Cerebellar vermis hypoplasia, Large basal ganglia, Chiari type I malformation, Abnormal repetitiv... |
ORPHA:261537 |
| Acute Disseminated Encephalomyelitis |
|
Hypointensity of cerebral white matter on MRI, Confusion, Aggressive behavior, Abnormal brainstem... |
ORPHA:83597 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Calf muscle hypertrophy, Hypertriglyceridemia |
ORPHA:280356 |
| Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia |
OMIM:300555 |
| Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Oral-pharyngeal dysphagia, Abnormal brainstem MRI signal intensity, Abnormal thalamic MRI signal ... |
ORPHA:254930 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Abnormality of the lower limb, Hypophosphatemia |
OMIM:193100 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus, Abnormal circ... |
OMIM:620306 |
| Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Small for gestational age, Tapered finger, Aggressive behavior, Long fingers, Clin... |
OMIM:609425 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Splenomegaly, Metaphyseal irregularity, Hypophosphatemia, Polydipsia, ... |
OMIM:239200 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
| Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci... |
OMIM:207750 |
| Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... |
ORPHA:274 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Hypertriglyceridemia, Generalized hirsutism |
ORPHA:363400 |
| Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... |
OMIM:603553 |
| Orotic Aciduria |
|
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... |
OMIM:258900 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia, Coarse metaphyseal trabecularization, Genu valgum, Hypocalcemia, Abnormal hip bone morp... |
ORPHA:93160 |
| Developmental And Epileptic Encephalopathy 99 |
|
Cerebellar atrophy, Hypoplastic hippocampus, Microcephaly, Perisylvian polymicrogyria, Thick corp... |
OMIM:619606 |
| Galloway-Mowat Syndrome 6 |
|
Cerebellar atrophy, Short stature, Decreased response to growth hormone stimulation test, Microce... |
OMIM:618347 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
| Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Tibial bowing, Knee flexion contracture, Femoral bowing, Sparse hair, Short tibia, ... |
OMIM:601559 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... |
OMIM:258860 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Cerebellar vermis hypoplasia, Large basal ganglia, Chiari type I malformation, Abnormal repetitiv... |
ORPHA:261552 |
| Microtriplication 11Q24.1 |
|
Metatarsus adductus, Synophrys, Hyperlipidemia, Small hand, Obesity, Genu valgum, Short foot, Lon... |
ORPHA:289522 |
| New-Onset Refractory Status Epilepticus |
|
Abnormal basal ganglia MRI signal intensity, Cerebellar edema, Confusion, Abnormal thalamic MRI s... |
ORPHA:363558 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hip contracture, Bowing of the long bones, Hypercalcemia, Micrognathia, Metaphyseal chondrodyspla... |
OMIM:156400 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... |
OMIM:619313 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Short attention span, Hyperactivity, Cerebellar vermis hypoplasia, Aggressive behavior, Postnatal... |
OMIM:620242 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal basal ganglia MRI signal intensity, Abnormal brainstem MRI signal intensity, Abnormal th... |
ORPHA:444013 |
| Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Genu valgum, Hypophosphatemia |
OMIM:618913 |
| Smith-Magenis Syndrome |
|
Pes planus, Hypertriglyceridemia, Toe syndactyly, Failure to thrive in infancy, Micrognathia, Syn... |
ORPHA:819 |
| Autosomal Dominant Hypocalcemia |
|
Alopecia, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
| Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Compulsive behaviors, Hyperph... |
OMIM:261600 |
| Costello Syndrome |
|
Short stature, Cerebral atrophy, Chiari type I malformation, Failure to thrive, Enlarged cerebellum |
OMIM:218040 |
| Band Heterotopia |
|
Hypoplastic hippocampus, Subcortical band heterotopia, Lateral ventricle dilatation, Polymicrogyr... |
OMIM:600348 |
| Microphthalmia With Limb Anomalies |
|
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... |
ORPHA:1106 |
| Pontocerebellar Hypoplasia Type 2 |
|
Cerebellar vermis hypoplasia, Abnormal cortical gyration, Oral-pharyngeal dysphagia, Dysplastic c... |
ORPHA:2524 |
| Leigh Syndrome |
|
Abnormal basal ganglia MRI signal intensity, Cerebellar atrophy, Abnormal dentate nucleus morphol... |
ORPHA:506 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... |
ORPHA:247598 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Short stature, Aggressive behavior, Pica, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:617270 |
| Brunet-Wagner Neurodevelopmental Syndrome |
|
Cerebellar atrophy, Cerebral atrophy, Self-injurious behavior, Abnormal repetitive mannerisms, Th... |
OMIM:619690 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
| Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal foot morphology, Abnor... |
ORPHA:352540 |
| Mowat-Wilson Syndrome |
|
Focal cortical dysplasia, Decreased body weight, Agenesis of cerebellar vermis, Short stature, Ce... |
ORPHA:2152 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Cerebellar atrophy, Short stature, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Decre... |
OMIM:614833 |
| Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen... |
OMIM:278000 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Hyperactivity, Cerebellar vermis hypoplasia, Microcephaly, Lateral vent... |
OMIM:617751 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Bowing... |
ORPHA:157215 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormality of the anterior commissure, Abnormal hippocampus morphology, Dysphagia, Aplasia/Hypop... |
ORPHA:572013 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Hypoplasia of the brainstem, Colpocephaly, Polymicrogyria, Agenesis o... |
ORPHA:250972 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... |
OMIM:605814 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia |
OMIM:613877 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypomagnesemia, Thrombocytopenia, Talipes equ... |
OMIM:619743 |
| Congenital Generalized Lipodystrophy |
|
Failure to thrive, Hypertriglyceridemia, Low anterior hairline, Hypertrichosis, Low posterior hai... |
ORPHA:528 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Enlargement of the ankles, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, De... |
ORPHA:289157 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Cerebellar atrophy, Short stature, Microcephaly, Overweight, Hypoplasia of the corpus callosum, A... |
ORPHA:280763 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
| Acromesomelic Dysplasia 2B |
|
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... |
OMIM:228900 |
| Mucolipidosis Iv |
|
Cerebellar atrophy, Progressive neurologic deterioration, Cerebral dysmyelination, Microcephaly, ... |
OMIM:252650 |
| Familial Acute Necrotizing Encephalopathy |
|
Abnormal brainstem MRI signal intensity, Abnormal putamen morphology, Abnormal brainstem morpholo... |
ORPHA:88619 |
| Chylomicron Retention Disease |
|
Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Failure to thrive, Hypocholesterolemia |
ORPHA:71 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Increased C-peptide level |
OMIM:615238 |
| Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia |
OMIM:313900 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Focal T2 hyperintense thalamic lesion, Leukoencephalopathy |
OMIM:613724 |
| Pick Disease Of Brain |
|
Frontotemporal dementia, Polyphagia, Irritability, Disinhibition, Inappropriate laughter, Emotion... |
OMIM:172700 |
| Eiken Syndrome |
|
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m... |
ORPHA:79106 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia, Anemia |
OMIM:603278 |
| Developmental And Epileptic Encephalopathy 60 |
|
Hippocampal malrotation |
OMIM:617929 |
| Takenouchi-Kosaki Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:616737 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Thrombocytopenia, Giant platelets, Anemia |
OMIM:611209 |
| Lathosterolosis |
|
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno... |
OMIM:607330 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Microcephaly, Aggressive behavior, Simplified gyral pattern, Periventricular white... |
OMIM:619470 |
| Hemorrhagic Fever-Renal Syndrome |
|
Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevated circulating creatinine concentration, Hype... |
ORPHA:340 |
| Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern,... |
OMIM:620001 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... |
OMIM:268305 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia |
OMIM:608600 |
| Dent Disease 1 |
|
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed epiphyseal ossification... |
OMIM:300009 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia, Polyphagia, Obesity |
ORPHA:66628 |
| Trichohepatoenteric Syndrome 1 |
|
Increased mean platelet volume, Splenomegaly, Increased serum iron, Hypoalbuminemia, Hypermethion... |
OMIM:222470 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Hypoplastic hippocampus, Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Late... |
OMIM:618606 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal basal ganglia MRI signal intensity, Cerebellar atrophy, Abnormal thalamic MRI signal int... |
ORPHA:485421 |
| Microcephaly-Micromelia Syndrome |
|
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For... |
OMIM:251230 |
| Blount Disease |
|
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... |
ORPHA:2768 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Achilles tendon contrac... |
ORPHA:98855 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytosis, Leukocytosis, Hepatosplenomeg... |
OMIM:618278 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... |
ORPHA:85188 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
| 3P25.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms, Cerebral white matter atrophy, Abnormal thalamus morphology, Atte... |
ORPHA:435638 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia, Polyphagia, Obesity |
ORPHA:179494 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia, Hirsutism |
OMIM:604367 |
| Mandibuloacral Dysplasia |
|
Alopecia, Hypertriglyceridemia, Increased circulating free fatty acid level, Micrognathia, Short ... |
ORPHA:2457 |
| Cystinosis |
|
Hypokalemia, Hypophosphatemia, Polydipsia, Failure to thrive, Abnormal repetitive mannerisms |
ORPHA:213 |
| Japanese Encephalitis |
|
Abnormal substantia nigra morphology, Abnormal midbrain morphology, Anorexia, Abnormal pons morph... |
ORPHA:79139 |
| Opsismodysplasia |
|
Short metacarpal, Rhizomelia, Hypoplasia of the odontoid process, Squared iliac bones, Hypoplasti... |
OMIM:258480 |
| Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Decreased LDL choles... |
OMIM:615947 |
| Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Short attention span, Abnormal substantia nigra morphology, Overweight, Mental deterioration, Obe... |
ORPHA:2822 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Secondary mi... |
OMIM:619306 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia |
OMIM:603471 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... |
ORPHA:158048 |
| Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Agenesis of corpus callosum, Hippocampal malrotation |
OMIM:614402 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegal... |
ORPHA:540 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... |
ORPHA:85170 |
| Orofaciodigital Syndrome Ix |
|
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly |
OMIM:258865 |
| Syndromic Diarrhea |
|
Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Abnormality of iron homeo... |
ORPHA:84064 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Failure to thrive, Hypertriglyceridemia, Splenomegaly, Anemia, Finger swelling, Lymphopenia, Thro... |
OMIM:617591 |
| Familial Congenital Mirror Movements |
|
Agenesis of corpus callosum, Abnormal corticospinal tract morphology, Dysgenesis of the hippocampus |
ORPHA:238722 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Failure to thrive, Focal T2 hyperintense thalamic lesion, Agitation |
OMIM:619046 |
| Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... |
ORPHA:2378 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentrati... |
ORPHA:90041 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Achilles tendon contrac... |
ORPHA:98863 |
| Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Achilles tendon contrac... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Achilles tendon contrac... |
ORPHA:98853 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Elevated circulating C-reactive protein concentration, Decreased... |
OMIM:617718 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Elevated circulating creatine kinase concentration, Hyperlipidemia, Abdominal obesity, Abnormal c... |
OMIM:615980 |
| Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Caudate atrophy, Cerebral atrophy, Dysphagia, Agitation, Bruxism, Abnormal re... |
OMIM:617435 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Compulsive behaviors, Abnormal thalamus morphology, Attention deficit hyperactivity disorder |
ORPHA:404440 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Frontotemporal dementia, Inappropriate behavior, Disinhibition... |
OMIM:600795 |
| Posttransplant Acute Limbic Encephalitis |
|
Confusion, Abnormal hippocampus morphology, Depression, Cognitive impairment, Memory impairment |
ORPHA:163921 |
| Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... |
ORPHA:466650 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Bent Bone Dysplasia Syndrome 2 |
|
Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Short ri... |
OMIM:620076 |
| Chromosome 2Q37 Deletion Syndrome |
|
Short metacarpal, Short fourth metatarsal, Hyperactivity, Highly arched eyebrow, Aggressive behav... |
OMIM:600430 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Talipes, Microgn... |
OMIM:227270 |
| Atelosteogenesis Type Iii |
|
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... |
ORPHA:56305 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Short stature, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obes... |
ORPHA:3077 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Abnormal thalamic MRI signal intensity, Abnormal cerebellar cortex morphology, Depression, Cognit... |
ORPHA:70595 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Microcephaly, Overweight, D... |
ORPHA:457240 |
| Christianson Syndrome |
|
Cerebellar atrophy, Cachexia, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Inappropri... |
ORPHA:85278 |
| Optic Atrophy-Intellectual Disability Syndrome |
|
Short stature, Repetitive compulsive behavior, Abnormal hippocampus morphology, Compulsive behavi... |
ORPHA:401777 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Short stature, Small for gestational age, Microcephaly, Cognitive impairment, Delayed puberty, Ab... |
ORPHA:2959 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
| Ritscher-Schinzel Syndrome 4 |
|
Short stature, Impulsivity, Aggressive behavior, Dysgenesis of the hippocampus, Agenesis of corpu... |
OMIM:619435 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Short stature, Small for gestational age, Failure to thrive in infancy, Microcepha... |
OMIM:614104 |
| Insulin-Like Growth Factor I Deficiency |
|
Short attention span, Hyperactivity, Short stature, Elevated circulating growth hormone concentra... |
OMIM:608747 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Dysplastic corpus callosum, Obesity, Secondary microcephaly, Periventricular white matter hyperin... |
OMIM:619737 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Neurofibrillary tangles, Frontotemporal dementia, Repetitive compulsive behavior, Hypersexuality,... |
OMIM:607485 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal erythrocyte en... |
ORPHA:264580 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Alopecia, Hypertriglyceridemia, Obesity, Abnormal granulocyte morphology, Abnormal circulating cr... |
ORPHA:98907 |
| Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Scarring alopecia of scalp, Abnormal circulating... |
ORPHA:79277 |
| Reni Syndrome |
|
Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Episodic hemolytic anemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:251004 |
| Colchicine Poisoning |
|
Hyponatremia, Alopecia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokal... |
ORPHA:31824 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Sandal gap, Highly arched eyebrow, Synophrys, Paroxysmal bursts of laughter, Polyp... |
ORPHA:228402 |
| Fanconi-Bickel Syndrome |
|
Failure to thrive, Bowing of the long bones, Hypertriglyceridemia, Hypophosphatemia |
ORPHA:2088 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... |
OMIM:308240 |
| Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... |
ORPHA:168782 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Rhizomelia, Postaxial polydactyly, Sparse eyebrow, Squared iliac bones, Preaxi... |
OMIM:616300 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... |
OMIM:187900 |
| Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
| Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Abnormal cerebral white matter morphology, Lateral ventricle dilatation... |
OMIM:613443 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Calf muscle pseudohypertrophy, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Generalized hir... |
ORPHA:79083 |
| Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... |
OMIM:238600 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomegaly, Increased... |
ORPHA:79240 |
| Gm2 Gangliosidosis, Ab Variant |
|
Short stature, Postnatal growth retardation, Abnormal fear-induced behavior, Cerebral atrophy, In... |
ORPHA:309246 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia, Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphy... |
OMIM:600785 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:435660 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Aggressive behavior, Dysgenesis of the hippocampus, Compulsive behaviors, Attention deficit hyper... |
OMIM:619320 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Short attention span, Hyperactivity, Short stature, Microcephaly, Aggressive behavior, Attention ... |
OMIM:618342 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
| Panhypophysitis |
|
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... |
ORPHA:95513 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Hyperactivity, Short metatarsal, Advanced ossification of carpal bones, Obesity... |
OMIM:614613 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Anemia, Increased blood urea nitrogen |
ORPHA:230 |
| X-Linked Hypophosphatemia |
|
Shortening of the talar neck, Bowing of the long bones, Bowing of the legs, Sacroiliac joint syno... |
ORPHA:89936 |
| Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Cerebellar dysplasia |
OMIM:616490 |
| Hydranencephaly |
|
Dysgenesis of the thalamus, Hypoplastic hippocampus, Postnatal growth retardation, Thalamic edema... |
ORPHA:2177 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
| Griscelli Syndrome Type 1 |
|
Premature graying of hair, Hyperlipidemia, White hair |
ORPHA:79476 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Cerebellar atrophy, Cerebral atrophy, Self-injurious behavior, Progressive microcephaly, Compulsi... |
OMIM:618917 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Short stature, Aggressive behavior, Microcephaly, Abnormal repetitive mannerisms |
OMIM:615541 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomegaly, Dysphagia... |
OMIM:613327 |
| Femoral-Facial Syndrome |
|
Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pelvic girdle bone mor... |
ORPHA:1988 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Frontotemporal dementia, Disinhibition, Dysphagia, Emotional lability, Abnormal repetitive manner... |
OMIM:612069 |
| Glycogen Storage Disease Iii |
|
Hyperlipidemia, Elevated circulating creatine kinase concentration |
OMIM:232400 |
| Xp21 Deletion Syndrome |
|
Finger clinodactyly, Calf muscle hypertrophy, Hypertriglyceridemia, Elevated circulating creatine... |
ORPHA:261476 |
| Glycogen Storage Disease Ixc |
|
Splenomegaly, Hypertriglyceridemia |
OMIM:613027 |
| Duplication Of The Pituitary Gland |
|
Short stature, Abnormal midbrain morphology, Microcephaly, Abnormal pituitary gland morphology, A... |
ORPHA:314621 |
| Tay-Sachs Disease |
|
Cerebellar atrophy, Short attention span, Hypointensity of cerebral white matter on MRI, Abnormal... |
ORPHA:845 |
| Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Leukopenia, Abnormal circulating serine concentration, H... |
ORPHA:470 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cerebellar atrophy, Focal polymicrogyria, Microcephaly, Dysplastic corpus callosum, Partial agene... |
OMIM:619103 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Transient hyperphenylalaninemia, Aggressive behavior |
OMIM:612716 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Dysplastic corpus callosum, Small for gestational age, Intrauterine growth retardation |
OMIM:620135 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hypertriglyceridemia, Micrognathia |
OMIM:615381 |
| Seckel Syndrome 10 |
|
Microretrognathia, Hypertriglyceridemia, Elevated hemoglobin A1c, Metaphyseal widening, Cone-shap... |
OMIM:617253 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Dilated fourth ventricle, Thick cerebral cortex, Cerebellar vermis hypoplasia, Postnatal growth r... |
ORPHA:357058 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Splenomegaly, Hypertriglyceridemia, Generalized hirsutism |
ORPHA:2348 |
| Chédiak-Higashi Syndrome |
|
Hyponatremia, Abnormal leukocyte morphology, Hypopigmentation of hair, Hypertriglyceridemia, Panc... |
ORPHA:167 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Cerebral atrophy, Cerebellar hypoplasia... |
OMIM:616900 |
| Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Thick hair, Micrognathia, Short tibia, Adactyly, Broad first met... |
ORPHA:2751 |
| 4Q21 Microdeletion Syndrome |
|
Growth delay, Agenesis of corpus callosum, Self-injurious behavior, Cerebellar hypoplasia, Intrau... |
ORPHA:238750 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Micrognathia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... |
ORPHA:2634 |
| Hereditary Renal Hypouricemia |
|
Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Palmoplantar keratoderma, Palmoplantar hyperhidrosis, Nail dystrophy, Hyper... |
OMIM:610644 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Aggressive behavior, Large for gestational age, Dysplastic corpus callosum, Periventricular cysts... |
ORPHA:544488 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity |
ORPHA:209902 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... |
ORPHA:447 |
| Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Calf muscle hypertrophy, Hypertriglyceridemia |
ORPHA:435651 |
| Rhombencephalosynapsis |
|
Fusion of the cerebellar hemispheres, Septo-optic dysplasia, Agenesis of cerebellar vermis, Abnor... |
ORPHA:59315 |
| Fibrous Dysplasia Of Bone |
|
Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Hyp... |
ORPHA:249 |
| Orthostatic Hypotension 1 |
|
Hypomagnesemia, Increased blood urea nitrogen |
OMIM:223360 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:79085 |
| Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... |
ORPHA:412 |
| Griscelli Syndrome Type 2 |
|
Hypopigmentation of hair, Pancytopenia, Splenomegaly, Hyperlipidemia, Premature graying of hair, ... |
ORPHA:79477 |
| Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia |
OMIM:214900 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... |
ORPHA:3320 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
ORPHA:487796 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Micrognathia, Large for gestational age, Tibial bowing, Hypoplastic iliac wing, Small proximal ti... |
ORPHA:96334 |
| Werner Syndrome |
|
Alopecia of scalp, Elevated hemoglobin A1c, Hypertriglyceridemia |
OMIM:277700 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Large for gestational age, Hypouricemia, Hypophosphatemia |
OMIM:616026 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Failure to thrive, Short stature, Microcephaly, Dysplastic corpus callosum, Simplified gyral patt... |
OMIM:619179 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Hy... |
ORPHA:2570 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hallux valgus, Pes planus, Alopecia, Hypertriglyceridemia, Arachnodactyly, Sandal gap, Phalangeal... |
ORPHA:536532 |
| Tangier Disease |
|
Hypertriglyceridemia, Thrombocytopenia, Hepatosplenomegaly, Nail dystrophy, Hypocholesterolemia, ... |
ORPHA:31150 |
| H Syndrome |
|
Hallux valgus, Abnormal eyebrow morphology, Alopecia, Hypertriglyceridemia, Histiocytosis, Pes pl... |
ORPHA:168569 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
| Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
| Microphthalmia With Limb Anomalies |
|
Failure to thrive, Toe syndactyly, Sandal gap, Abnormal eyelash morphology, Capitate-hamate fusio... |
OMIM:206920 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia |
OMIM:618314 |
| Alstrom Syndrome |
|
Pes planus, Decreased HDL cholesterol concentration, Alopecia, Hypertriglyceridemia, Truncal obes... |
OMIM:203800 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Small for gestational age, Micrognathia, Low anterior hairline, Low posterior hair... |
ORPHA:73272 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal hyperintensity of cerebral white matter on MRI, Failure to thrive in infancy, Aggressi... |
ORPHA:488627 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Abnormal long bone mor... |
ORPHA:411634 |
| Developmental And Epileptic Encephalopathy 6B |
|
Hypoplastic hippocampus, Abnormal repetitive mannerisms |
OMIM:619317 |
| Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia |
OMIM:134600 |
| Xq28 (MECP2) duplication |
|
Microcephaly, Depression, Hypoplasia of the corpus callosum, Dysphagia, Failure to thrive, Abnorm... |
DECIPHER:45 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Short stature, Impulsivity, Microcephaly, Aggressive behavior, Attention deficit h... |
OMIM:620141 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... |
OMIM:119800 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Cachexia, Hypersplenism, Vacuolated l... |
ORPHA:275761 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Globus pallidus calcification, Aggressive behavior, Attention deficit hyperactivit... |
OMIM:620292 |
| Microcephaly-Capillary Malformation Syndrome |
|
Hypoplastic hippocampus, Short stature, Small for gestational age, Simplified gyral pattern, Cere... |
OMIM:614261 |
| Congenital Analbuminemia |
|
Small for gestational age, Hyperlipidemia, Obesity, Pedal edema, Increased alpha-globulin, Hypoal... |
ORPHA:86816 |
| Meningioma |
|
Enlarged pituitary gland, Hypothalamic hypothyroidism, Reduced circulating prolactin concentratio... |
ORPHA:2495 |
| Acquired Partial Lipodystrophy |
|
Lymphocytosis |
ORPHA:79087 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Confusion, Microcephaly, Agitation, Cognitive impairment, Emotional lability, Failure to thrive, ... |
ORPHA:927 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... |
OMIM:602111 |
| 46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
| Aceruloplasminemia |
|
Abnormal thalamic MRI signal intensity, Cognitive impairment, Abnormal dentate nucleus morphology... |
ORPHA:48818 |
| Choreoacanthocytosis |
|
Caudate atrophy, Compulsive behaviors, Small basal ganglia, Self-mutilation of tongue and lips du... |
ORPHA:2388 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Hyperactivity, Aggressive behavior, Corpus callosum atrophy, Cerebral atrophy... |
ORPHA:168491 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Short attention span, Failure to thrive, Short stature, Overweight, Head-banging, Chiari type I m... |
OMIM:619575 |
| Adenohypophysitis |
|
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... |
ORPHA:95512 |
| Shukla-Vernon Syndrome |
|
Cerebellar atrophy, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, A... |
OMIM:301029 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl... |
OMIM:617925 |
| Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite... |
OMIM:258315 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acroosteolysis of distal phalanges... |
ORPHA:280365 |
| Familial Chylomicronemia Syndrome |
|
Hypertriglyceridemia, Hyperlipidemia, Hepatosplenomegaly, Increased circulating chylomicron conce... |
ORPHA:444490 |
| Dravet Syndrome |
|
Short attention span, Impulsivity, Dysgenesis of the hippocampus, Cognitive impairment, Obsessive... |
ORPHA:33069 |
| 19P13.12 Microdeletion Syndrome |
|
Finger syndactyly, Toe clinodactyly, Hyperactivity, Sandal gap, Synophrys, Hyperlipidemia, Obesit... |
ORPHA:254346 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Short stature, Microcephaly, Aggressive behavior, Abnormal cerebral white matter m... |
ORPHA:391307 |
| Acromelic Frontonasal Dysostosis |
|
Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta... |
OMIM:603671 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Renal hypophosphatemia, Rickets of the lower limbs, Lower limb asymmetry, Abnormal sacroiliac joi... |
ORPHA:289176 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... |
OMIM:227810 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Failure to thrive, Short stature, Aggressive behavior, Self-injurious behavior, Secondary microce... |
OMIM:300986 |
| Craniopharyngioma |
|
Enlarged pituitary gland, Cerebral calcification, Proportionate short stature, Neoplasm of the an... |
ORPHA:54595 |
| Cockayne Syndrome Type 1 |
|
Anemia, Increased blood urea nitrogen |
ORPHA:90321 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... |
OMIM:171480 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Elevated circulating creatinine concentration, Elevated circulating C-reactive... |
ORPHA:49041 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Short stature, Microcephaly, Abnormal repetitive mannerisms, Cerebr... |
OMIM:615802 |
| Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Coxa vara, Hyperactivity, Rhizomelia, Iliac crest serration, Hypoplasia... |
ORPHA:239 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Microcephaly, Attention deficit hyperactivity disorder, Abnormal periventricular white matter mor... |
OMIM:619725 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
| Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Renal hypophosphatemia, Elevate... |
ORPHA:1652 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hypertriglyceridemia, Sandal gap, Elevated hemoglobin A1c, Micrognathia, Sparse eyebrow, Decrease... |
OMIM:619127 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cerebellar atrophy, Short attention span, Impulsivity, Microcephaly, Aggressive behavior, Paroxys... |
OMIM:619580 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Hypopigmentation of hair, Failure to thrive in infancy, Oral-pharyngeal dysphagia, ... |
OMIM:219800 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Micrognathia, Compulsive behaviors, Abnormal repetitive mannerisms, Hyponatremia, ... |
ORPHA:534 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Aplasia/Hypoplasia of the clavicles, Alopecia, Abnormal fingertip morphology, Microgn... |
ORPHA:90154 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... |
OMIM:263520 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
| Acquired Generalized Lipodystrophy |
|
Calf muscle pseudohypertrophy, Abnormal circulating lipid concentration, Generalized hirsutism, H... |
ORPHA:79086 |
| Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia |
OMIM:613388 |
| Even-Plus Syndrome |
|
Dysplastic corpus callosum, Severe short stature, Agenesis of corpus callosum |
OMIM:616854 |
| Amoebiasis Due To Free-Living Amoebae |
|
Restlessness, Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Confusion, Abn... |
ORPHA:68 |
| Infantile Nephropathic Cystinosis |
|
Abnormal blood ion concentration, Hypokalemia, Hypophosphatemia, Polydipsia, Failure to thrive |
ORPHA:411629 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... |
OMIM:164900 |
| Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Small for gestational age |
OMIM:256300 |
| Immunodeficiency 92 |
|
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... |
OMIM:619652 |
| Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Small for gestational age, Hypomagnesemia, Thrombocytopenia, Splen... |
ORPHA:699 |
| Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
| Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia |
ORPHA:514 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Proportionate short stature, Self-injurious behavior, Attention deficit hyperactivity disorder, C... |
OMIM:617044 |
| Sandhoff Disease, Infantile Form |
|
Abnormal thalamic MRI signal intensity, Cerebral cortical atrophy |
ORPHA:309155 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Abnormality of hair texture, Splenomegaly, Hypocalcemia, Abnormal epiph... |
ORPHA:667 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hallux valgus, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemia, ... |
OMIM:256040 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Impulsivity, Interhypothalamic adhesion, Self-injurious behavior, Attention deficit hyperactivity... |
OMIM:618929 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hyperlipidemia, Failure to thrive |
ORPHA:369 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Microretrognathia, Hypertriglyceridemia, Failure to thrive in infancy, Splenome... |
OMIM:619418 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly |
OMIM:619955 |
| Mccune-Albright Syndrome |
|
Pancytopenia, Abnormal femur morphology, Increased circulating cortisol level, Hypophosphatemia, ... |
ORPHA:562 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypoplasia of the pons, Cortical dysplasia, Simplified gyral pattern, Abnormal periventricular wh... |
ORPHA:468631 |
| Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia... |
OMIM:619573 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia, Micrognathia, Upper limb undergrowth, Obesity, Slender long ... |
ORPHA:369837 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Autoimmune thrombocytopenia, Hyper... |
ORPHA:77293 |
| Wiedemann-Steiner Syndrome |
|
Psychomotor deterioration, Short attention span, Hyperactivity, Rhizomelia, Short stature, Decrea... |
ORPHA:319182 |
| Raine Syndrome |
|
Bowing of the long bones, Micromelia, Micrognathia, Highly arched eyebrow, Hypophosphatemia, Long... |
OMIM:259775 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hyperactivity, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T... |
ORPHA:760 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Dysplastic corpus callosum, Failure to thrive, Secondary microcephaly, Short stature |
OMIM:619423 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
| Occipital Horn Syndrome |
|
Pes planus, Brachydactyly, Thick hair, Aplastic clavicle, Aplasia/hypoplasia of the humerus, Down... |
ORPHA:198 |
| Joubert Syndrome 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Molar tooth ... |
OMIM:610688 |
| Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg... |
OMIM:618150 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Intracerebral periventricular calcifications, Short stature, Microcephaly, Postnatal growth retar... |
ORPHA:168577 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis |
ORPHA:86843 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, Weight loss, Hypomagnese... |
ORPHA:79102 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Hypertriglyceridemia, Absent eyelashes, Premature graying of hair, Sparse hair, H... |
ORPHA:363618 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Impulsivity, Aggressive behavior, Self-injurious behavior, Lateral ventricle dilatation, Hypoplas... |
OMIM:618914 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Hyperlipidemia, Failure to thrive |
ORPHA:2089 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hyperchole... |
ORPHA:79259 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... |
OMIM:274000 |
| Hereditary Fructose Intolerance |
|
Hypermagnesemia, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
| Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... |
OMIM:108720 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium |
ORPHA:100924 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hypertriglyceridemia, Elevated hemoglobin A1c, Splenomegaly, Large hands, Long foot, Polyphagia, ... |
OMIM:269700 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird... |
ORPHA:1788 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Short attention span, Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Ir... |
ORPHA:449291 |
| Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Cerebral calcification, Cerebellar vermis hypoplasia, Microcephaly, Basal ganglia ... |
OMIM:617281 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Growth delay, Abnormal repetitive mannerisms, Agenesis of corpus callosum, Microcephaly |
ORPHA:261144 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Failure to thrive, Aggressive behavior, Postnatal growth retardation, Bulimia, Sel... |
OMIM:300912 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Weight loss, Hypokalemia, Decreased circulating c... |
ORPHA:3337 |
| Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Hypoplasia of the thymus, Genu varum, Long toe, Absent eyebrow, Alopecia, Absent ey... |
OMIM:264090 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Hirsutism |
OMIM:151660 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Recurren... |
OMIM:617600 |
| Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Wide capital femoral epiphyses, Small for gestational age, Abnormal femoral he... |
ORPHA:1830 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Hyperbiliru... |
ORPHA:1667 |
| Holoprosencephaly 7 |
|
Microcephaly, Partial agenesis of the corpus callosum, Panhypopituitarism, Hypoplasia of the brai... |
OMIM:610828 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl... |
ORPHA:958 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Aggressive behavior, Cortical dysplasia, Progressive language deterioration, Atten... |
OMIM:610042 |
| Methanol Poisoning |
|
Hyperlipidemia, Addictive alcohol use |
ORPHA:31825 |
| Familial Infantile Myoclonic Epilepsy |
|
Cerebellar atrophy, Thick cerebral cortex, Abnormal hippocampus morphology |
ORPHA:352582 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Neonatal death, Dysplastic corpus callosum, Cerebellar hypoplasia |
OMIM:618810 |
| Cerebrofacioarticular Syndrome |
|
Cerebellar vermis hypoplasia, Short stature, Microcephaly, Dysplastic corpus callosum, Self-injur... |
ORPHA:314679 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Microcephaly, Aqueductal stenosis, Hypoplasia of the pons, Partial agenesis of the... |
OMIM:619512 |
| Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Recurrent hand flapping, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:620021 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Azotemia, Hypophosphatemia |
OMIM:104200 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Brittle hair, Micrognathia, Hyperlipidemia, Short clavicles, Osteolytic defects of the ... |
OMIM:608612 |
| Atypical Werner Syndrome |
|
Micrognathia, Abnormal hair whorl, Premature graying of hair, Finger clinodactyly, Short palm, Al... |
ORPHA:79474 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Disorganization of the anterior cerebellar vermis, Hyperactivity, Cerebellar vermis hypoplasia, R... |
OMIM:300486 |
| Rauch-Steindl Syndrome |
|
Hyperactivity, Short stature, Microcephaly, Postnatal growth retardation, Aggressive behavior, In... |
OMIM:619695 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Hypertriglyceridemia, Splenomegaly, Large hands, Long foot, Polyphagia, Hirsutism |
OMIM:608594 |
| Parathyroid Carcinoma |
|
Hypercalcemia, Weight loss, Hypophosphatemia, Dysphagia, Polydipsia |
ORPHA:143 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Conjugated hyperbilirubinemia, Early ossification of capital femoral epip... |
OMIM:208500 |
| Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... |
OMIM:228520 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Sparse scalp hair, Alopecia, Down-sloping shoulders, Micrognathia, Coxa valga, Hyperl... |
OMIM:248370 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
| Neutral Lipid Storage Myopathy |
|
Hypertriglyceridemia, Obesity, Abnormal circulating creatine kinase concentration |
ORPHA:98908 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Aplasia/Hypoplasia of the clavicles, Absent eyelashes, Hyp... |
ORPHA:90153 |
| Omodysplasia 2 |
|
Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomelic arm shorte... |
OMIM:164745 |
| Kapur-Toriello Syndrome |
|
Dysplastic corpus callosum, Failure to thrive, Pachygyria, Polymicrogyria |
ORPHA:2328 |
| Hyperthyroidism, Nonautoimmune |
|
Small for gestational age, Hyperactivity, Increased circulating thyroglobulin level |
OMIM:609152 |
| Cholestasis-Lymphedema Syndrome |
|
Splenomegaly, Hyperlipidemia |
ORPHA:1414 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Elevated circulating C-reactive protein concentration, Perianal abscess, Iron deficiency anemia, ... |
OMIM:301074 |
| Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
| Prader-Willi Syndrome Due To Translocation |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:177907 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Polydipsia, Hypercalcemia, Dysphagia, Hypophosphatemia |
ORPHA:99880 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Dysplastic corpus callosum, Leukoencephalopathy, Hypoplasia of the corpus callosum, Failure to th... |
OMIM:614924 |
| Acute Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity |
ORPHA:529808 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Cerebral white matter hypoplasia, Chiari type I malformation, Abnormal hippocampus morphology |
ORPHA:436003 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Absent nipple, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missin... |
OMIM:200980 |
| Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Small for gestational age, Hyperglycerolemia |
OMIM:307030 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Aplasia/Hypoplasia of the cerebellum, Abnormality of the diencephalon, Abnormal brainstem morphol... |
ORPHA:2720 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dysplastic corpus callosum, Head-banging, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:618569 |
| Pitt-Hopkins Syndrome |
|
Hypoplastic hippocampus, Microcephaly, Self-injurious behavior, Secondary microcephaly, Hypoplasi... |
OMIM:610954 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures |
ORPHA:405 |
| Fructose Intolerance, Hereditary |
|
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia, Failure to thrive |
OMIM:229600 |
| Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Hypertriglyceridemia, Hypercholesterolemia, Failure to thrive, Short dist... |
OMIM:118450 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Thalamic hemorrhage, Cerebral calcification, Abnormal basal ganglia morphology |
ORPHA:464321 |
| Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... |
ORPHA:2879 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Small for gestational age, Microcephaly, Abnormal brainstem morphology, Birth length less than 3r... |
ORPHA:464311 |
| Campomelic Dysplasia |
|
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... |
OMIM:114290 |
| Acromelic Frontonasal Dysplasia |
|
Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia |
ORPHA:1827 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Alopecia, Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipide... |
ORPHA:189427 |
| Campomelic Dysplasia |
|
11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d... |
ORPHA:140 |
| Cranioectodermal Dysplasia 1 |
|
Broad toe, Brachydactyly, Short humerus, Slow-growing hair, Short nail, Rhizomelia, Broad distal ... |
OMIM:218330 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Sparse scalp hair, Hypertriglyceridemia, Small for gestational age, Dysphagia, Sparse hair, Hyper... |
OMIM:606721 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplicatio... |
OMIM:236680 |
| Familial Multiple Lipomatosis |
|
Hyperlipidemia, Bowing of the long bones |
ORPHA:199276 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Hypoplastic hippocampus |
OMIM:617780 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Impulsivity, Aggressive behavior, Dysplastic corpus callosum, Thick corpus callosum, Pineal cyst,... |
OMIM:300967 |
| Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
| Aromatase Deficiency |
|
Eunuchoid habitus, Hyperlipidemia, Delayed epiphyseal ossification, Obesity, Genu valgum, General... |
ORPHA:91 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
| Wiedemann-Rautenstrauch Syndrome |
|
Long toe, Sparse scalp hair, Short humerus, Hypertriglyceridemia, Short femur, Camptodactyly of f... |
ORPHA:3455 |
| Diffuse Cutaneous Mastocytosis |
|
Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis |
ORPHA:79456 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Short stature, Anterior pituitary hypoplasia, Microcephaly, Dysplastic corpus callosum, Intrauter... |
OMIM:151050 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... |
OMIM:276820 |
| Bickerstaff Brainstem Encephalitis |
|
Confusion, Abnormal thalamic MRI signal intensity |
ORPHA:79138 |
| Autoimmune Lymphoproliferative Syndrome |
|
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... |
ORPHA:3261 |
| Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Hypoplastic hippocampus, Abnormal cortical gyration, Aggressive behavior, Cerebellar hypoplasia, ... |
ORPHA:314647 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Anterior pituitary hypoplasia, Aggressive behavior, Dysplastic corpus callosum, Chiari type I mal... |
ORPHA:466791 |
| Apert Syndrome |
|
Abnormal morphology of the limbic system, Absent septum pellucidum, Megalencephaly, Chiari type I... |
OMIM:101200 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormal lateral ventricle morphology, Hyperactivity, Short stature, Impulsivity, Aggressive beha... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormal lateral ventricle morphology, Hyperactivity, Short stature, Impulsivity, Aggressive beha... |
ORPHA:353277 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Chiari malformation, Secondar... |
OMIM:618820 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228308 |
| Kinsship Syndrome |
|
Pes planus, Micrognathia, Coxa valga, Synophrys, Hip dislocation, Hypertrichosis, Fibular hypopla... |
OMIM:619297 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, O... |
ORPHA:353281 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, Vacuolated lymp... |
ORPHA:565612 |
| Parenteral Nutrition-Associated Cholestasis |
|
Small for gestational age, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Abnormal ... |
ORPHA:567983 |
| Charge Syndrome |
|
Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Absent radius, Short thumb, Hand mo... |
OMIM:214800 |
| Goodpasture Syndrome |
|
Anemia, Increased blood urea nitrogen |
OMIM:233450 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormality of the diencephalon, Microcephaly |
ORPHA:2165 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ... |
OMIM:304120 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dysplastic corpus callosum |
ORPHA:363444 |
| Zttk Syndrome |
|
Failure to thrive, Short stature, Dysplastic corpus callosum, Growth delay, Abnormal cerebral whi... |
OMIM:617140 |
| Norrie Disease |
|
Cachexia, Microcephaly, Abnormality of the diencephalon, Self-injurious behavior, Irritability, A... |
ORPHA:649 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Failure to thrive, Microcephaly, Repetitive compulsive behavior, Pineal cyst, Stereotypical body ... |
ORPHA:513456 |
| White-Kernohan Syndrome |
|
Dysplastic corpus callosum, Obesity, Attention deficit hyperactivity disorder |
OMIM:619426 |
| Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Microcephaly, Aggressive behavior, Hair-pulling, Cerebral atrophy, Self-injurious behavior, Bruxi... |
OMIM:616393 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Obesity, Self-injurious behavior... |
ORPHA:293987 |
| Orofaciodigital Syndrome Type 4 |
|
Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ... |
ORPHA:2753 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia, Pedal edema |
ORPHA:567546 |
| Aapoaiv Amyloidosis |
|
Hyperlipidemia, Elevated circulating creatinine concentration |
ORPHA:439232 |
| Glycogen Storage Disease Ib |
|
Splenomegaly, Hyperlipidemia, Xanthelasma, Hyperuricemia, Neutropenia |
OMIM:232220 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Lymphocytosis |
ORPHA:139402 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Failure to thrive in infancy, Proportionate short stature, Dysplastic corpus callosum, Simplified... |
ORPHA:500150 |
| Witteveen-Kolk Syndrome |
|
Hyperactivity, Short stature, Decreased response to growth hormone stimulation test, Small for ge... |
OMIM:613406 |
| Fabry Disease |
|
Anorexia, Hyperlipidemia, Abnormal femur morphology, Abnormal circulating lipid concentration, An... |
ORPHA:324 |
| Osteopathia Striata With Cranial Sclerosis |
|
Paranasal sinus hypoplasia, Arachnodactyly, Micrognathia, Osteopathia striata, Fibular hypoplasia... |
OMIM:300373 |
| Glycogen Storage Disease Ia |
|
Xanthelasma, Hyperlipidemia, Hyperuricemia |
OMIM:232200 |
| Mowat-Wilson Syndrome |
|
Short stature, Microcephaly, Aplasia/Hypoplasia of the cerebral white matter, Abnormal hippocampu... |
OMIM:235730 |
| Kikuchi-Fujimoto Disease |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Splenomegaly, Leukopenia... |
ORPHA:50918 |
| Glycogen Storage Disease Ic |
|
Cyclic neutropenia, Xanthelasma, Hyperlipidemia, Hyperuricemia |
OMIM:232240 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Curly hair, Thick hair, Highly arched eyebrow, Micrognathia, Synophrys, Small hand, Obesity, Fibu... |
ORPHA:444077 |
| Woodhouse-Sakati Syndrome |
|
Sparse hair, Alopecia, Hyperlipidemia, Fine hair |
OMIM:241080 |
| Liver Disease, Severe Congenital |
|
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... |
OMIM:619991 |
| Williams Syndrome |
|
Short stature, Failure to thrive in infancy, Microcephaly, Atrophy/Degeneration involving the cor... |
ORPHA:904 |
| Alström Syndrome |
|
Pes planus, Hypertriglyceridemia, Frontal balding, Splenomegaly, Hyperlipidemia, Short toe, Obesi... |
ORPHA:64 |
| Woodhouse-Sakati Syndrome |
|
Alopecia, Aplasia/Hypoplasia of the eyebrow, Hyperlipidemia |
ORPHA:3464 |
| Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |
