| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume |
OMIM:615193 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocyto... |
OMIM:187800 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619271 |
| Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Splenomegaly, Unconjugated hyperbilirubinemia, Elevated tran... |
ORPHA:766 |
| Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
| Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Short 5th finger, Short 4th metacarpal, Short 5th metacarpal, Short distal pha... |
ORPHA:79445 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... |
OMIM:314050 |
| Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Short metacarpal, Brachydactyly, Hypocalcemia, Obesity |
OMIM:603233 |
| Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
| Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Leu... |
OMIM:155100 |
| Iron-Refractory Iron Deficiency Anemia |
|
Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic anemia, Poikilo... |
OMIM:206200 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia, Clinodactyly of the 5th toe, Clinodactyly of the 5th finger, Overfriendliness |
OMIM:618010 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly |
OMIM:619175 |
| Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
| Syndactyly Type 4 |
|
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... |
ORPHA:93405 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... |
OMIM:607778 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Hypertriglyceridemia |
OMIM:608898 |
| Acromesomelic Dysplasia 2C |
|
Short tibia, Short foot, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip disloc... |
OMIM:201250 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Increased mean platelet volume, Impa... |
OMIM:617443 |
| Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Hypoplas... |
OMIM:200700 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant ... |
OMIM:231200 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi... |
OMIM:616860 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia, Hypervalinemia, Hyperisoleucinemia |
OMIM:620085 |
| Osebold-Remondini Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Hyp... |
OMIM:112910 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, L... |
OMIM:118651 |
| Coasy Protein-Associated Neurodegeneration |
|
Abnormality of thalamus morphology, Abnormal caudate nucleus morphology, Cognitive impairment, Ab... |
ORPHA:397725 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Genu varum, Metaphyseal cupping, Hypophosphatemia, Bowing of the legs, Flared metaphysis, Hypocal... |
OMIM:619073 |
| Myh9-Related Disease |
|
Congenital thrombocytopenia, Neutrophil inclusion bodies, Increased mean platelet volume, Giant p... |
ORPHA:182050 |
| Acromesomelic Dysplasia, Grebe Type |
|
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... |
ORPHA:2098 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Weight loss, Circulating... |
OMIM:613673 |
| Slc35A1-Cdg |
|
Thrombocytopenia, Neutropenia, Abnormal platelet granules, Giant platelets |
ORPHA:238459 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Small for gestational age, Hyperbilirubinemia, Erythroid hyperplasia, Reticuloc... |
OMIM:224120 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:144300 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hemolytic anemia, Normochromic anemia |
OMIM:245900 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Increased LDL cholesterol concentration, Decreased HDL cholestero... |
OMIM:607616 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Syndactyly, Anisocytosis, Anemia ... |
OMIM:615631 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures |
ORPHA:2239 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation |
OMIM:124900 |
| Pseudohypoparathyroidism, Type Ia |
|
Short toe, Hypocalcemic tetany, Hyperphosphatemia, Short metacarpal, Short finger, Brachydactyly,... |
OMIM:103580 |
| Leri-Weill Dyschondrosteosis |
|
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Hypoplasia ... |
OMIM:127300 |
| Fibular Hemimelia |
|
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... |
ORPHA:93323 |
| Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Short metacarpal, Brachydactyly, Short metatarsal, Hypoca... |
OMIM:612462 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Midline brainstem cleft, Fusion of the left and right thalami, Absent hip... |
OMIM:617542 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Neutropenia, Increased circulating ferritin concentration, Hemophagocytosis, Thrombocytop... |
OMIM:603552 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Childhood-onset truncal obesity, Obesity, Polyphagia |
ORPHA:71529 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
| Sitosterolemia 1 |
|
Stomatocytosis, Hypercholesterolemia, Anemia, Reduced haptoglobin level, Reticulocytosis, Impaire... |
OMIM:210250 |
| Léri-Weill Dyschondrosteosis |
|
Short tibia, Abnormal carpal morphology, Abnormal metaphysis morphology, Genu valgum, Abnormality... |
ORPHA:240 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612924 |
| Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia, Increased body weight |
ORPHA:94086 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Hypertriglyceridemia |
OMIM:615924 |
| Langer Mesomelic Dysplasia |
|
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Micrognathia, Radial bowin... |
OMIM:249700 |
| Chudley-Mccullough Syndrome |
|
Cerebellar dysplasia, Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Hypoplasia ... |
OMIM:604213 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
OMIM:616516 |
| Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
| Morbid Obesity And Spermatogenic Failure |
|
Obesity, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hyperc... |
OMIM:615703 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem... |
OMIM:153670 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612926 |
| Hyperlysinemia, Type I |
|
Hyperlysinemia, Hyperactivity, Anemia |
OMIM:238700 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... |
ORPHA:98870 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Thrombocytopenia, Macrothrombocytopenia |
OMIM:616176 |
| Papular Xanthoma |
|
Histiocytosis, Hyperlipidemia |
ORPHA:158008 |
| Lethal Faciocardiomelic Dysplasia |
|
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Microretrognathia, Hyp... |
ORPHA:1972 |
| Cach Syndrome |
|
Cerebellar vermis atrophy, Cognitive impairment, Lateral ventricle dilatation, Apathy, T2 hypoint... |
ORPHA:135 |
| Acheiropody |
|
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Aplas... |
OMIM:200500 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Pancytopenia |
OMIM:617872 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
| Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Cerebral cortical atrophy, Hypoplasia of the brainstem, Cerebellar hypoplasia, Simplified gyral p... |
OMIM:619072 |
| Hypertriglyceridemia, Transient Infantile |
|
Failure to thrive, Hypertriglyceridemia, Splenomegaly |
OMIM:614480 |
| Tubulinopathy-Associated Dysgyria |
|
Abnormality of thalamus morphology, Abnormal brainstem morphology, Agyria, Cerebellar vermis hypo... |
ORPHA:467166 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Hepatosplenomegaly, Increased circulating ferritin concentration, Hemophagocytosis, Throm... |
OMIM:613101 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Fibular aplasia, Tibial bowing |
OMIM:246570 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Abnormality of thalamus morphology, Lateral ventricle dilatation, Primary microcephaly, Lissencep... |
ORPHA:300570 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Unconjugated hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reticulocytosi... |
OMIM:300908 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cognitive impairment, Anxiety, Motor deterioration, Emotional lability, Abnormal repetitive manne... |
ORPHA:79264 |
| Pseudohypoparathyroidism Type 2 |
|
Hyperphosphatemia, Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Hypocalcemia |
ORPHA:94090 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612925 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Leukoencephalopathy, Cerebral cortical atrophy, T2 hypointense thalamus, Dementia, Basal ganglia ... |
OMIM:618193 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia |
OMIM:610947 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hyperphosphatemia, Short foot, Small hand, Micrognathia, Hypocalcemic seizures, Hypocalcemia, Sho... |
OMIM:241410 |
| Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:144600 |
| Neutral Lipid Storage Disease With Myopathy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
OMIM:610717 |
| Alexander Disease Type I |
|
Cachexia, Rosenthal fibers, Abnormal cerebral white matter morphology, Focal T2 hyperintense basa... |
ORPHA:363717 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Mild malformation of corti... |
ORPHA:500166 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... |
ORPHA:86841 |
| Kenny-Caffey Syndrome, Type 2 |
|
Hyperphosphatemia, Anemia, Transient hypophosphatemia, Small for gestational age, Abnormality of ... |
OMIM:127000 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Hypoplasia of the radius, Lytic defects of humeral diaphysis, Short femur, Hypoplasi... |
OMIM:601376 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Failure to thrive, Hypoplasia of the pons, Microcephaly, Cerebellar atrophy, Dysplastic corpus ca... |
OMIM:618276 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Metacarpal periosteal thickening, Hyperphosphatemia, Achilles tendon calcification, Hypercalcemia |
OMIM:617994 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Abnormal circulating calcium concentration, Trapezoidal distal femoral condyles, Genu valgum, Met... |
OMIM:307800 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
| Pseudohypoparathyroidism Type 1C |
|
Broad distal phalanx of the thumb, Hypocalcemic tetany, Hyperphosphatemia, Short 4th metacarpal, ... |
ORPHA:79444 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Obesity, Polyphagia, Hyperlipidemia |
OMIM:617885 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Micrognathia, Hypertriglyceridemia |
ORPHA:436182 |
| Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Cerebellar calcifications, Thalamic calcification, Basal ganglia calcification, Mental deterioration |
OMIM:618824 |
| Foxg1 Syndrome |
|
Paroxysmal bursts of laughter, Decreased body weight, Cognitive impairment, Short stature, Stereo... |
ORPHA:561854 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Hirsutism, Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia, Splenome... |
OMIM:612526 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication |
OMIM:188740 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Leukopenia, Anemia, Hyperuricemia, Pancytopenia, Increased blood urea nitrogen, Hyponatremia, Thr... |
OMIM:613845 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Small for gestational age, Severe short stature, Growth delay, Focal T2 hyperintense thalamic les... |
OMIM:619057 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Hyperphosphatemia |
OMIM:614207 |
| Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Hypoplasia of the brainstem, Perisylvian polymicrogyria, Agyria, Dysgen... |
ORPHA:171680 |
| Rh Deficiency Syndrome |
|
Reduced haptoglobin level, Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis,... |
ORPHA:71275 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Hyperphosphatemia, Hyperuricemia, Short humerus, Failure to thrive, Lateral femoral bowing, Hydro... |
OMIM:239000 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Short tibia, Abnormal foot morphology, Hip dislocation, Talipes equinovalgus, Dislocated radial h... |
OMIM:605274 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Aplastic anemia, Hy... |
OMIM:300635 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Short tibia, Absent thumb, Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
| Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:36913 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short phalanx of finger, Hyperphosphatemia, Short metacarpal, Small for gestational age, Long hal... |
OMIM:101800 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Metaphyseal irregularity, Bulging epiphyses, Hypophosphatemia, Tibial bowing, Femoral bowing, Bow... |
OMIM:600081 |
| Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Thrombocytope... |
OMIM:169400 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Short tibia, Rhizomelia, Short ribs, Small for gestational age, Hypoplasia of the radius, Short f... |
OMIM:607143 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... |
ORPHA:79506 |
| Neuroferritinopathy |
|
Iron accumulation in substantia nigra, Abnormal dentate nucleus morphology, Cognitive impairment,... |
ORPHA:157846 |
| Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hypocalcemia, Hyperkalemia, Hyperphosphatemia |
ORPHA:99845 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Anemia, Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Hypertrigly... |
OMIM:618398 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Drug-Induced Lupus Erythematosus |
|
Anemia, Elevated circulating creatine kinase concentration, Increased blood urea nitrogen, Elevat... |
ORPHA:231111 |
| Refractory Celiac Disease |
|
Weight loss, Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportio... |
ORPHA:398063 |
| Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, Cutaneous ... |
OMIM:619217 |
| Acrodysostosis With Multiple Hormone Resistance |
|
Short phalanx of finger, Short toe, Hyperactivity, Hyperphosphatemia, Short metacarpal, Absent/hy... |
ORPHA:280651 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Neutropenia, Hyperbilirubinemi... |
ORPHA:158057 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... |
ORPHA:3203 |
| Lipase Deficiency, Combined |
|
Hypertriglyceridemia |
OMIM:246650 |
| Orofaciodigital Syndrome Type 10 |
|
Short tibia, Short toe, Mesomelic leg shortening, Micrognathia, Metatarsal synostosis, Oligodacty... |
ORPHA:2756 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Fusion of the cerebellar hemispheres, Dilated fourth ventricle, Hypoplasia of the brainstem, Abno... |
ORPHA:370959 |
| Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hyperuricemia, Hyperkalemia, Agitation, Elevated circulating creatine kinase c... |
ORPHA:94093 |
| Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
| Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Small hand, Micrognathia, Hypocalcemia, Short foot |
ORPHA:2323 |
| Hypophosphatemic Bone Disease |
|
Bowing of the legs, Hypophosphatemia |
OMIM:146350 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Failure ... |
OMIM:267700 |
| Pseudohypoparathyroidism Type 1A |
|
Broad distal phalanx of the thumb, Hypocalcemic tetany, Hyperphosphatemia, Short 4th metacarpal, ... |
ORPHA:79443 |
| Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Hypoplasia of the corpus callosum, Enlarged cerebellum, Microcephaly |
ORPHA:85165 |
| Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... |
ORPHA:1986 |
| Temple Syndrome |
|
Hypertriglyceridemia, Short foot, Small hand, Small for gestational age, Micrognathia, Clinodacty... |
OMIM:616222 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Elliptocytosis, Decreased serum iron, Poikilocytosis, Decreased mean corpuscular volume, ... |
OMIM:616959 |
| Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Alopecia, Hyperphosphatemia, Abnormal hair quantity, Abnormal hip bone morphology, Obesity |
ORPHA:457059 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Inappropriate behavior, Frontotemporal dementia, Aggressive behavior, Emotional blunting, Frontot... |
ORPHA:275864 |
| Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hyperuricemia, Splenomegaly, Hypercholesterolemia |
OMIM:306000 |
| Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Cognitive impairment, Hyperintensity of cerebral white matter on MRI, Motor deterioration, T2 hyp... |
ORPHA:1947 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Abnormal circulating calcium concentration, Metaphyseal irregularity, Bulging epiphyses, Hypophos... |
OMIM:241530 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Hypoplastic hippocampus, Cerebral atrophy, Partial agenesis of the corpus callosum, Agenesis of c... |
ORPHA:85179 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Thalamic calcification, Memory impairment, Basal ganglia calcification, Mental deterioration |
OMIM:618317 |
| Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
| Orofaciodigital Syndrome Viii |
|
Short tibia, Polydactyly, Syndactyly |
OMIM:300484 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Obesity, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Elevat... |
OMIM:618620 |
| Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Abnormal basal ganglia morphology, Decreased thalamic volume |
OMIM:618646 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Arachnodactyly, Hypertriglyceridemia, Microcytic anemia, Hypoalbuminemia |
OMIM:619013 |
| Microcephaly 29, Primary, Autosomal Recessive |
|
Simplified gyral pattern, Enlarged cerebellum, Emotional lability, Primary microcephaly |
OMIM:620047 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis... |
OMIM:235400 |
| Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia, Hemolytic anemia |
OMIM:177000 |
| Tibial Hemimelia |
|
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... |
ORPHA:93322 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Hypoplasia of the corpus callosum, Enlarged cerebellum, Cerebral white matter hypoplasia, Colpoce... |
ORPHA:477993 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis... |
OMIM:274150 |
| Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Bowing of the legs, Iron deficiency anemia, Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
| Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
| Bilateral Generalized Polymicrogyria |
|
Self-injurious behavior, Lateral ventricle dilatation, Short stature, Abnormal repetitive manneri... |
ORPHA:208447 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... |
OMIM:615558 |
| Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Hypertriglyceridemia, Decreased HDL chole... |
ORPHA:650 |
| Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Splenomegaly, Hypercholesterolemia |
ORPHA:75234 |
| Dominant Beta-Thalassemia |
|
Genu valgum, Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Decreased mean... |
ORPHA:231226 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Metaphyseal irregularity, Bulging epiphyses, Hypophosphatemia, Tibial bowing, Hypocalcemic seizur... |
OMIM:264700 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:241520 |
| Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Diaphyseal sclerosis, Hypocalcemic seizures, ... |
ORPHA:94089 |
| Linear Verrucous Nevus Syndrome |
|
Sparse scalp hair, Short metacarpal, Toe syndactyly, Hypophosphatemia, Talipes, Genu recurvatum |
ORPHA:2611 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Metaphyseal irregularity, Bulging epiphyses, Hypophosphatemia, Tibial bowing, Alopecia universali... |
OMIM:277440 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Small for gestational age, Hirsutism, Congenital bilateral hip dislocation, Talipe... |
ORPHA:85288 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Short tibia, 11 pairs of ribs, Triphalangeal thumb, Micrognathia, Clinodactyly, Oligodactyly, Ove... |
OMIM:201170 |
| Dyschondrosteosis And Nephritis |
|
Short tibia, Radial bowing, Ulnar bowing, Short forearm |
OMIM:127350 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Micrognathia, Camptodactyly, Failure to thrive, Anisocytosis, Rocker bottom foot |
OMIM:604273 |
| Slc35A2-Cdg |
|
Camptodactyly of finger, Short tibia, Hip subluxation, Coxa valga, Abnormal long bone morphology,... |
ORPHA:356961 |
| Interstitial Nephritis, Karyomegalic |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:614817 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hyperphosphatemia, Anemia, Stenosis of the medullary cavity of the long bone... |
ORPHA:93325 |
| Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Broad foot, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Ab... |
OMIM:135750 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity, Small hand, Hip dislocation, Hirsutism, Short foot, Talipes equinovarus |
OMIM:300434 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Elliptocytosis, Poikilocytosis, Anisocytosis, Macrocytic anemia, Thrombocytopenia, Neutropenia, A... |
OMIM:300835 |
| Smith-Magenis Syndrome |
|
Hyperactivity, Synophrys, Brachydactyly, Hypercholesterolemia, Short palm, Hypertriglyceridemia, ... |
OMIM:182290 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Failure to thrive, Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Absent tibia, Camp... |
OMIM:612576 |
| Tangier Disease |
|
Splenomegaly, Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I c... |
OMIM:205400 |
| Lhermitte-Duclos Disease |
|
Enlarged cerebellum, Polymicrogyria |
ORPHA:65285 |
| Smith-Magenis syndrome |
|
Hyperactivity, Brachydactyly |
DECIPHER:8 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Cerebellar vermis atrophy, Lateral ventricle dilatation, Inappropriate crying, Diffuse cerebral a... |
ORPHA:77299 |
| Oculoskeletodental Syndrome |
|
Dysplastic corpus callosum, Abnormality of thalamus morphology, Focal white matter lesions, Short... |
ORPHA:557003 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Elevated circulating apolipoprotein B concentration, In... |
OMIM:144250 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Monocyt... |
OMIM:614470 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Metaphyseal irregularity, Bulging epiphyses, Hypophosphatemia, Tibial bowing, Femoral bowing, Bow... |
OMIM:300554 |
| Citrullinemia Type Ii |
|
Hyperactivity, Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, De... |
ORPHA:247585 |
| Leptin Receptor Deficiency |
|
Aggressive behavior, Decreased response to growth hormone stimulation test, Short stature, Emotio... |
OMIM:614963 |
| Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Neutropenia, Increased circulating ferritin concentra... |
ORPHA:158061 |
| Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperphosphatemia, Calcinosis |
OMIM:211900 |
| Spastic Paraplegia 45, Autosomal Recessive |
|
Hypoplasia of the corpus callosum, Dysplastic corpus callosum |
OMIM:613162 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Calf muscle hypertrophy |
ORPHA:280356 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... |
ORPHA:3329 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Lateral ventricle dilatation, Primary microcephaly, Happy demeanor, Abnormal corpus callosum morp... |
ORPHA:261537 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, Splenomegal... |
OMIM:612690 |
| Dent Disease 2 |
|
Hypophosphatemia, Elevated circulating creatine kinase concentration |
OMIM:300555 |
| Hyperparathyroidism, Neonatal Severe |
|
Metaphyseal irregularity, Anemia, Calcinosis, Hypophosphatemia, Failure to thrive, Hypercalcemia,... |
OMIM:239200 |
| Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Impaired ristocetin-induced plate... |
ORPHA:274 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemia, Hypophosphatemic rickets, Abnormality of the lower limb |
OMIM:193100 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Leukopenia, Anemia, Pancytopenia, Hepatosplenomegaly, Failure to thriv... |
OMIM:603553 |
| Glycine Encephalopathy |
|
Restlessness, Impulsivity, Hyperactivity, Hyperglycinemia |
OMIM:605899 |
| Apolipoprotein C-Ii Deficiency |
|
Decreased circulating apolipoprotein C-II concentration, Hypercholesterolemia, Increased circulat... |
OMIM:207750 |
| Weismann-Netter Syndrome |
|
Anemia, Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, A... |
ORPHA:3344 |
| Coffin-Siris Syndrome 12 |
|
Chiari malformation, Short stature, Enlarged cerebellum, Hippocampal atrophy, Failure to thrive, ... |
OMIM:619325 |
| Malignant Hyperthermia Of Anesthesia |
|
Hyperphosphatemia, Hyperkalemia, Elevated creatine kinase after exercise |
ORPHA:423 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Hypertriglyceridemia, Generalized hirsutism |
ORPHA:363400 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Reduced amygdala volume, Abnormal dentate nucleus morphology, Lateral ventricle dilatation, Thin ... |
OMIM:619517 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Genu varum, Genu valgum, Alopecia, Hypophosphatemia, Coarse metaphyseal trabecularization, Hypoca... |
ORPHA:93160 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Cognitive impairment, Abnormal brainstem MRI signal intensity, Failure to thrive, Abnormal basal ... |
ORPHA:444013 |
| Developmental And Epileptic Encephalopathy 99 |
|
Perisylvian polymicrogyria, Frontotemporal cerebral atrophy, Thick corpus callosum, Thin corpus c... |
OMIM:619606 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Lateral ventricle dilatation, Primary microcephaly, Happy demeanor, Abnormal corpus callosum morp... |
ORPHA:261552 |
| Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... |
OMIM:228930 |
| Mowat-Wilson Syndrome |
|
Decreased body weight, Agenesis of cerebellar vermis, Anxiety, Short stature, Enlarged cerebellum... |
ORPHA:2152 |
| Stuve-Wiedemann Syndrome 1 |
|
Short tibia, Short phalanx of finger, Micrognathia, Metaphyseal rarefaction, Camptodactyly, Hypop... |
OMIM:601559 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Knee flexion contracture, Metaphyseal cupping, Hip contracture, Short ribs, Short long bone, Micr... |
OMIM:156400 |
| Orofaciodigital Syndrome Iv |
|
Short tibia, Toe syndactyly, Micrognathia, Foot polydactyly, Short finger, Hand polydactyly, Clin... |
OMIM:258860 |
| Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemia, Hypophosphatemic rickets, Genu valgum |
OMIM:618913 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... |
OMIM:619313 |
| Costello Syndrome |
|
Short stature, Enlarged cerebellum, Failure to thrive, Chiari type I malformation, Cerebral atrophy |
OMIM:218040 |
| Orotic Aciduria |
|
Pyrimidine-responsive megaloblastic anemia, Poikilocytosis, Anisocytosis, Failure to thrive, Fola... |
OMIM:258900 |
| Acute Disseminated Encephalomyelitis |
|
Abnormal periventricular white matter morphology, Cerebral edema, Aggressive behavior, Hypointens... |
ORPHA:83597 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated circulating... |
ORPHA:247598 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Leukoencephalopathy, Abnormality of thalamus morphology |
OMIM:613724 |
| Lysosomal Acid Lipase Deficiency |
|
Leukopenia, Anemia, Hypersplenism, Steatorrhea, Hepatosplenomegaly, Failure to thrive, Increased ... |
OMIM:278000 |
| Short Rib-Polydactyly Syndrome |
|
Short tibia, Polydactyly, Abnormal pelvis bone ossification, Limb undergrowth, Short ribs, Acetab... |
ORPHA:1505 |
| Lissencephaly 9 With Complex Brainstem Malformation |
|
Cerebellar hemisphere hypoplasia, Hypoplasia of the brainstem, Short stature, Hypoplastic anterio... |
OMIM:618325 |
| Band Heterotopia |
|
Lateral ventricle dilatation, Hypoplastic hippocampus, Subcortical band heterotopia, Agenesis of ... |
OMIM:600348 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Bowing of the legs, Hypophosphatemia, Hypophosphatemic rickets, Increased circulating beta-C-term... |
ORPHA:157215 |
| Oncogenic Osteomalacia |
|
Abnormal foot morphology, Abnormality of the tarsal bones, Hypophosphatemia, Hypocalcemia, Abnorm... |
ORPHA:352540 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Decreased body weight, Short stature, Lissencephaly, Microcephaly, Cerebellar atrophy, Mild short... |
OMIM:614833 |
| Microphthalmia With Limb Anomalies |
|
Short tibia, Toe syndactyly, Micrognathia, Hip dislocation, Postaxial hand polydactyly, Talipes e... |
ORPHA:1106 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
| Glycerol Kinase Deficiency |
|
Small for gestational age, Hypertriglyceridemia |
OMIM:307030 |
| New-Onset Refractory Status Epilepticus |
|
Cognitive impairment, Focal T2 hyperintense basal ganglia lesion, Abnormal basal ganglia MRI sign... |
ORPHA:363558 |
| Leigh Syndrome With Cardiomyopathy |
|
Basal ganglia gliosis, Abnormality of thalamus morphology, Abnormal caudate nucleus morphology, N... |
ORPHA:70474 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia |
OMIM:613877 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Failure to thrive, Hyp... |
OMIM:605814 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal irregularity, Short lower limbs, Tibial bowing, Femoral bowing, Flared me... |
ORPHA:93356 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Polyphagia, Hyperlipidemia |
ORPHA:329249 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Abnormal periventricular white matter morphology, Cerebral cortical atrophy, Short stature, Abnor... |
ORPHA:280763 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Genu varum, Irregular, rachitic-like metaphyses, Hypophosphatemia, Tibial bowing, Femoral bowing,... |
ORPHA:289157 |
| Leigh Syndrome |
|
Encephalomalacia, Abnormal dentate nucleus morphology, Neuronal loss in basal ganglia, Abnormal b... |
ORPHA:506 |
| Autosomal Dominant Hypocalcemia |
|
Alopecia, Hypocalcemia, Hypomagnesemia, Hyperphosphatemia |
ORPHA:428 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Hypoplasia of the brainstem, Colpocephaly, Dysplastic corpus callosum, Agenesis of corpus callosu... |
ORPHA:250972 |
| Familial Acute Necrotizing Encephalopathy |
|
Cerebral edema, Abnormality of thalamus morphology, Abnormal putamen morphology, Abnormal brainst... |
ORPHA:88619 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Cognitive impairment, Abnormal brainstem MRI signal intensity, Abnormal cerebral white matter mor... |
ORPHA:254930 |
| Chylomicron Retention Disease |
|
Steatorrhea, Failure to thrive, Hypocholesterolemia, Hypertriglyceridemia, Acanthocytosis |
ORPHA:71 |
| Mucolipidosis Iv |
|
Cerebral dysmyelination, Progressive neurologic deterioration, Microcephaly, Cerebellar atrophy, ... |
OMIM:252650 |
| Acromesomelic Dysplasia 2B |
|
Short phalanx of finger, Deviation of finger, Malaligned carpal bone, Patellar dislocation, Rhizo... |
OMIM:228900 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Increased C-peptide level, Hypertriglyceridemia |
OMIM:615238 |
| Congenital Generalized Lipodystrophy |
|
Increased C-peptide level, Failure to thrive, Long foot, Hypercholesterolemia, Low posterior hair... |
ORPHA:528 |
| Combined Oxidative Phosphorylation Defect Type 27 |
|
Diffuse cerebral atrophy, Abnormal cerebral white matter morphology, Hypoplastic hippocampus, Dif... |
ORPHA:477774 |
| Childhood Disintegrative Disorder |
|
Abnormal emotion/affect behavior, Social and occupational deterioration, Motor deterioration, Abn... |
ORPHA:168782 |
| Eiken Syndrome |
|
Short phalanx of finger, Broad foot, Short toe, Metaphyseal irregularity, Abnormal fingertip morp... |
ORPHA:79106 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Patellar aplasia, Hand monodactyly, Absent tibia, Short hallux, Split foot, Split hand, Aplasia o... |
OMIM:119100 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Cerebellar dysplasia, Decreased response to growth hormone stimulation test, Short stature, Abnor... |
ORPHA:457240 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Genu varum, Anemia, Hypophosphatemia, Mildly elevated creatine kinase, Elevated circulating creat... |
OMIM:619743 |
| Takenouchi-Kosaki Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:616737 |
| Developmental And Epileptic Encephalopathy 60 |
|
Hippocampal malrotation |
OMIM:617929 |
| Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia |
OMIM:313900 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Thrombocytopenia, Anemia, Giant platelets |
OMIM:611209 |
| Smith-Magenis Syndrome |
|
Toe syndactyly, Micrognathia, Synophrys, Hand polydactyly, Obesity, Clinodactyly of the 5th finge... |
ORPHA:819 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hyperphosphatemia, Anemia, Decreased body weight, Hyperkalemia, Agitation, Leukocytosis, Elevated... |
ORPHA:340 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Obesity, Polyphagia, Decreased proportion of CD4-positive helper T cells |
ORPHA:66628 |
| Microtriplication 11Q24.1 |
|
Genu valgum, Short foot, Small hand, Synophrys, Clinodactyly of the 5th finger, Long eyelashes, M... |
ORPHA:289522 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia |
OMIM:608600 |
| Dent Disease 1 |
|
Metaphyseal irregularity, Bulging epiphyses, Hypophosphatemia, Tibial bowing, Femoral bowing, Bow... |
OMIM:300009 |
| Lathosterolosis |
|
Abnormal circulating cholesterol concentration, Anisopoikilocytosis, Hyperbilirubinemia, Hepatosp... |
OMIM:607330 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Elliptocytosis, Reticulocytosis, Hepatosplenom... |
OMIM:618278 |
| Trichohepatoenteric Syndrome 1 |
|
Hypermethioninemia, Splenomegaly, Abnormality of iron homeostasis, Increased mean platelet volume... |
OMIM:222470 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Lateral ventricle dilatation, Hypoplastic hippocampus, Failure to thrive, Hypoplasia of the pons,... |
OMIM:618606 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Broad femoral head, Fibular bowing, Exostoses of the radius, Hypoplasia ... |
ORPHA:85188 |
| Septopreoptic Holoprosencephaly |
|
Perisylvian polymicrogyria, Anterior hypopituitarism, Abnormal septum pellucidum morphology, Cent... |
ORPHA:280195 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Obesity, Polyphagia, Decreased proportion of CD4-positive helper T cells |
ORPHA:179494 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Achilles tendon contracture, Proximal lower limb amyotrophy, Hyporeflexia of lower limbs, Obesity... |
ORPHA:98855 |
| Christianson Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus... |
ORPHA:85278 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Patellar aplasia, Synostosis of... |
ORPHA:988 |
| Mandibuloacral Dysplasia |
|
Alopecia, Increased circulating free fatty acid level, Acroosteolysis of distal phalanges (feet),... |
ORPHA:2457 |
| Microcephaly-Micromelia Syndrome |
|
Short tibia, Absent thumb, Humeroradial synostosis, Micrognathia, Missing ribs, Absent radius, Ol... |
OMIM:251230 |
| Opsismodysplasia |
|
Short phalanx of finger, Metaphyseal cupping, Hypoplastic pubic bone, Short foot, Rhizomelia, Sho... |
OMIM:258480 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Short tibia, Short phalanx of finger, Hip subluxation, Mesomelic leg shortening, Short 5th finger... |
OMIM:268305 |
| Familial Congenital Mirror Movements |
|
Morphological abnormality of the corticospinal tract, Dysgenesis of the hippocampus, Agenesis of ... |
ORPHA:238722 |
| Hyperlipoproteinemia, Type Id |
|
Decreased LDL cholesterol concentration, Failure to thrive, Hyperlipoproteinemia, Decreased HDL c... |
OMIM:615947 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Hypertriglyceridemia, Hyperuricemia, Decreased HDL cholesterol concentration, Hirsutism |
OMIM:604367 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Thin corpus callosum, Abnormal repetitive mannerisms, Pachy... |
ORPHA:572013 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly |
OMIM:228250 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Hypoplasia of the brainstem, Molar tooth sign on MRI, Cerebellar hypopl... |
OMIM:619306 |
| Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Hippocampal malrotation, Agenesis of corpus callosum |
OMIM:614402 |
| Posttransplant Acute Limbic Encephalitis |
|
Cognitive impairment, Abnormal hippocampus morphology, Depression, Anxiety, Memory impairment |
ORPHA:163921 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Finger swelling, Anemia, Lymphopenia, Failure to thrive, Thrombocytopenia, Hypertriglyceridemia, ... |
OMIM:617591 |
| Syndromic Diarrhea |
|
Splenomegaly, Hypoplasia of the thymus, Abnormality of iron homeostasis, Lymphopenia, Thrombocyto... |
ORPHA:84064 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Hyperammonemia, Hyperargininemia, Elevated plasma citrulline |
OMIM:603471 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Narrow ili... |
ORPHA:85170 |
| Orofaciodigital Syndrome Ix |
|
Short tibia, Hand polydactyly, Camptodactyly, Toe syndactyly |
OMIM:258865 |
| Pontocerebellar Hypoplasia Type 2 |
|
Hypoplasia of the brainstem, Hypoplasia of the ventral pons, Abnormal cortical gyration, Cerebell... |
ORPHA:2524 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Neutropenia, Pan... |
ORPHA:158048 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Compulsive behaviors, Abnormality of thalamus morphology, Anxiety |
ORPHA:404440 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Anemia, Neutropenia, Increased circulating ferritin concentration, Hemophagocytosis, Thrombocytop... |
ORPHA:540 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperlipidemia, Elevated circulating creatine kinase concentration |
ORPHA:435660 |
| Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... |
ORPHA:2378 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Cognitive impairment, Abnormal thalamic MRI signal intensity, Depression, Abnormal cerebellar cor... |
ORPHA:70595 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... |
ORPHA:567548 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Abnormal circulating lipid concentration, Elevated circulating creatine kinase concentration, Pes... |
OMIM:615980 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Achilles tendon contracture, Proximal lower limb amyotrophy, Obesity, Elevated circulating creati... |
ORPHA:98863 |
| Emery-Dreifuss Muscular Dystrophy |
|
Achilles tendon contracture, Proximal lower limb amyotrophy, Obesity, Elevated circulating creati... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Achilles tendon contracture, Proximal lower limb amyotrophy, Obesity, Elevated circulating creati... |
ORPHA:98853 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume, Elevated circulating C-reactive ... |
OMIM:617718 |
| Exercise-Induced Malignant Hyperthermia |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration, Thrombocytop... |
ORPHA:466650 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperlipidemia |
ORPHA:79085 |
| Cystinosis |
|
Failure to thrive, Hypophosphatemia, Polydipsia, Hypokalemia |
ORPHA:213 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Knee flexion contracture, Genu valgum, Rhizomelia, Micrognathia, Fragmented epiphyses, Epiphyseal... |
ORPHA:166016 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Truncal obesity, Hypercholesterolemia, Hypertriglyceride... |
OMIM:615812 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Cognitive impairment, Abnormality of thalamus morphology, Short stature, Small for gestational ag... |
ORPHA:2959 |
| Japanese Encephalitis |
|
Cerebral edema, Abnormality of thalamus morphology, Abnormal substantia nigra morphology, Abnorma... |
ORPHA:79139 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperlipidemia, Calf muscle hypertrophy |
ORPHA:435651 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Cerebral cortical atrophy, Abnormal substantia nigra morphology, Lateral ventricle dilatation, Hy... |
ORPHA:2822 |
| Gaisböck Syndrome |
|
Increased mean corpuscular hemoglobin concentration, Hypertriglyceridemia, Hyperuricemia, Increas... |
ORPHA:90041 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
| Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Hypoplastic hippocampus, Cerebral atrophy, Agenesis of corpus callosum |
OMIM:600329 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Obesity, Secondary microcephaly, Periventricular white matter hyperintensities, Dysplastic corpus... |
OMIM:619737 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short phalanx of finger, Aplasia/hypoplasia of the femur, Micrognathia, Flared iliac wing, Toe sy... |
OMIM:609945 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Abnormal circulating creatine kinase concentration, Alopecia, Abnormal granulocyte morphology, Ob... |
ORPHA:98907 |
| Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Hypoplasia of the brainstem, Simplified gyral pattern, Failure to thrive, Microcephaly, Dysplasti... |
OMIM:620001 |
| Congenital Erythropoietic Porphyria |
|
Reduced haptoglobin level, Abnormal circulating porphyrin concentration, Leukopenia, Hemolytic an... |
ORPHA:79277 |
| Nephrotic Syndrome, Type 14 |
|
Hypertriglyceridemia, Lymphopenia, Hypoalbuminemia |
OMIM:617575 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Increased blood urea nitrogen, Episodic hemolytic anemia, Hypercalcemia |
ORPHA:251004 |
| Bent Bone Dysplasia Syndrome 2 |
|
Short tibia, Short sternum, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... |
OMIM:620076 |
| Fanconi-Bickel Syndrome |
|
Failure to thrive, Hypophosphatemia, Hypertriglyceridemia, Bowing of the long bones |
ORPHA:2088 |
| Colchicine Poisoning |
|
Alopecia, Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Leukocytosis, Hyponatr... |
ORPHA:31824 |
| 3P25.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms, Abnormality of thalamus morphology, Cerebral white matter atrophy |
ORPHA:435638 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Lymphocytosis, Pancytopenia, Thrombocytopenia, Hemophagocytosis, Elevated circulating C-reactive ... |
OMIM:308240 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Anemia, Abnormal erythrocyte enzyme level, Elevated circulating creatine kinase concentration, Fa... |
ORPHA:264580 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Impaired epinephrine-induced platelet aggregation, Macrothrombocytopenia, Increased RBC distribut... |
OMIM:187900 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Short tibia, Sparse eyebrow, Rhizomelia, Short ribs, Short long bone, Flat acetabular roof, Micro... |
OMIM:616300 |
| 4Q21 Microdeletion Syndrome |
|
Self-injurious behavior, Cerebellar hypoplasia, Abnormal repetitive mannerisms, Growth delay, Int... |
ORPHA:238750 |
| Atelosteogenesis Type Iii |
|
Short tibia, Patellar dislocation, Vertebral hypoplasia, Short tubular bones of the hand, Microgn... |
ORPHA:56305 |
| Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
| Hydranencephaly |
|
Thalamic edema, Cerebral cortical atrophy, Primary microcephaly, Atrophic pituitary gland, Dysgen... |
ORPHA:2177 |
| Faciocardiomelic Dysplasia, Lethal |
|
Short 5th finger, Small for gestational age, Micrognathia, Hypoplasia of the radius, Hypoplasia o... |
OMIM:227270 |
| Uremic Pruritus |
|
Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia |
ORPHA:94059 |
| Hyperlipoproteinemia, Type I |
|
Lactescent serum, Hepatosplenomegaly, Hyperlipidemia, Hypercholesterolemia, Increased circulating... |
OMIM:238600 |
| X-Linked Hypophosphatemia |
|
Shortening of the talar neck, Abnormal lower-limb metaphysis morphology, Genu valgum, Genu varum,... |
ORPHA:89936 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hyperuricemia, Calf muscle pseudohypertrophy, Hypertriglyceridemia, Generalized hirsutism, Spleno... |
ORPHA:79083 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hyperactivity, Hallux valgus, Obesity, Cone-shaped epiphyses of the 2nd toe, Cone-shaped epiphyse... |
ORPHA:397973 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Lewy bodies, Frontotemporal dementia, Cerebral cortical atrophy, Lateral ventricle dilatation, Hy... |
OMIM:607485 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
| Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Cerebellar dysplasia |
OMIM:616490 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Anemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceri... |
ORPHA:79240 |
| Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Anterior hypopituitarism, Dysplastic corpus callosum |
OMIM:601016 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Increased blood urea nitrogen, Anemia, Elevated circulating creatinine concentration |
ORPHA:230 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Obesity, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:209902 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short phalanx of finger, Hyperactivity, Advanced ossification of carpal bones, Short metacarpal, ... |
OMIM:614613 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus... |
ORPHA:2570 |
| Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Coxa vara, Micrognathia, Hip dysplasia, Preaxial foot polydactyl... |
ORPHA:1988 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Secondary microcephaly, Abnormal thalamic MRI signal intensity, Abnormal basal ganglia MRI signal... |
ORPHA:485421 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Abnormal erythrocyte enzyme level, Elevated circulating creatine kinase concentration, Failure to... |
ORPHA:370 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
| Fanconi-Bickel Syndrome |
|
Failure to thrive, Hypophosphatemia, Hypouricemia, Hypokalemia |
OMIM:227810 |
| Griscelli Syndrome Type 1 |
|
Premature graying of hair, White hair, Hyperlipidemia |
ORPHA:79476 |
| Glycogen Storage Disease Iii |
|
Hyperlipidemia, Elevated circulating creatine kinase concentration |
OMIM:232400 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Thrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Macrothrombocytopenia |
OMIM:603585 |
| Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia, Splenomegaly |
OMIM:613027 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated circulating creatine kinase concentration, Failure to thrive, Hirsutism, Dysphagia, Hype... |
OMIM:613327 |
| Aceruloplasminemia |
|
Abnormal dentate nucleus morphology, Cognitive impairment, Apathy, Abnormal thalamic MRI signal i... |
ORPHA:48818 |
| Xp21 Deletion Syndrome |
|
Finger clinodactyly, Hypertriglyceridemia, Calf muscle hypertrophy, Elevated circulating creatine... |
ORPHA:261476 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Postaxial polydactyly, Short ribs, Short long bone, Absent tibia, Short di... |
OMIM:613091 |
| Rubinstein-Taybi Syndrome 2 |
|
Short 5th toe, Hyperactivity, Short first metatarsal, Micrognathia, Long eyelashes, Broad hallux,... |
OMIM:613684 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Small for gestational age, Dysplastic corpus callosum, Intrauterine growth retardation |
OMIM:620135 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
