Microcephaly 7, Primary, Autosomal Recessive |
|
Simplified gyral pattern |
OMIM:612703 |
Microcephaly 12, Primary, Autosomal Recessive |
|
Simplified gyral pattern |
OMIM:616080 |
Periventricular Nodular Heterotopia 6 |
|
Periventricular nodular heterotopia, Gray matter heterotopia |
OMIM:615544 |
Cortical Dysplasia, Complex, With Other Brain Malformations 4 |
|
Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Agyria |
OMIM:615412 |
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly |
|
Pachygyria, Lissencephaly |
OMIM:614499 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Subcortical band heterotopia, Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly |
OMIM:615411 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hepatomegaly, Hypoglycemia, Hypertriglyceridemia |
OMIM:306000 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterole... |
OMIM:232700 |
Lissencephaly 1 |
|
Subcortical band heterotopia, Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly |
OMIM:607432 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Abnormality of neuronal migration, Simplified gyral pattern, Pachygyria, Polymicrogyria, Gray mat... |
OMIM:604317 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... |
ORPHA:79506 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... |
OMIM:610021 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Increased urine alpha-ketoglutarate c... |
ORPHA:35878 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Central hypothyroidism, Decreased circulating free T4 level, Inappropriately normal thyroid-stimu... |
OMIM:301033 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Excessive insuli... |
ORPHA:324575 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Neonatal hypoglycemia, Abnormal cir... |
ORPHA:293964 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Hypercholesterolemia, Diabetes m... |
OMIM:610947 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Hyperproteinemia, Neutropenia, Anemia, Splenomegaly, Ataxia, Increased circulating ... |
ORPHA:158048 |
Microlissencephaly |
|
Periventricular heterotopia, Simplified gyral pattern, Pachygyria, Polymicrogyria, Subcortical he... |
ORPHA:1083 |
Immunodeficiency, Common Variable, 6 |
|
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5... |
OMIM:613496 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Gaisböck Syndrome |
|
Hyperproteinemia, Nephrocalcinosis, Increased red blood cell count, Hyperuricemia, Hypercholester... |
ORPHA:90041 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Insulin resistance, Splenomegaly, Hypercholesterolemia, Hepatic steatosis, Hepatosp... |
OMIM:612526 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Focal pancreatic islet hyperplasia,... |
ORPHA:276575 |
Multiple Myeloma |
|
Hyperproteinemia, Hypercalcemia, Nephrotic syndrome, Lymphadenopathy, Elevated circulating creati... |
ORPHA:29073 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Excessive insuli... |
ORPHA:276580 |
Sub-Cortical Nodular Heterotopia |
|
Abnormality of neuronal migration, Polymicrogyria, Subcortical heterotopia |
ORPHA:101029 |
Lissencephaly, X-Linked, 1 |
|
Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria |
OMIM:300067 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resistance, Increased... |
OMIM:615703 |
Lissencephaly 3 |
|
Pachygyria, Polymicrogyria, Agyria, Gray matter heterotopia, Lissencephaly |
OMIM:611603 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Gray matter heterotopia, Pachygyria, Agyria |
ORPHA:1084 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia, Nephrotic syndrome, Podocyte foot process effacement, Glomerular sclerosis, Stag... |
OMIM:619155 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:256450 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
Band Heterotopia |
|
Gray matter heterotopia, Subcortical band heterotopia, Polymicrogyria |
OMIM:600348 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Increased LDL cholesterol concentration, Elevated circulating creatine kinase conce... |
OMIM:616828 |
Nephronophthisis 16 |
|
Hepatic fibrosis, Nephronophthisis, Polycystic kidney dysplasia, Cholestasis, Renal insufficiency... |
OMIM:615382 |
Periventricular Nodular Heterotopia 8 |
|
Periventricular nodular heterotopia |
OMIM:618185 |
Congenital Megacalycosis |
|
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... |
ORPHA:93109 |
Nephrotic Syndrome, Type 1 |
|
Renal tubular atrophy, Hypoproteinemia, Hyperlipidemia, Congenital nephrotic syndrome, Glomerular... |
OMIM:256300 |
Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Diabetes insipidus, Hypoglycemia, Insulin resistance, Hypogonadism, Hy... |
ORPHA:181393 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hepatic steatosis, Hypercholesterolemia, Decreased circu... |
OMIM:616829 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Generalized aminoaciduria, Renal tubular dysfunction, Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Periventricular heterotopia |
OMIM:608097 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Adrenal calcif... |
ORPHA:75234 |
Aa Amyloidosis |
|
Hepatomegaly, Adrenal insufficiency, Nephrotic syndrome, Acute kidney injury, Cholestasis, Nephro... |
ORPHA:85445 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... |
OMIM:147630 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Hypoketotic hypoglycemia, Excessive insulin response to glucagon test, Hyperinsulin... |
ORPHA:276556 |
Cortical Malformations, Occipital |
|
Pachygyria, Polymicrogyria |
OMIM:614115 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... |
ORPHA:171706 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Asymptomatic hyperammonemia |
OMIM:606762 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Steppage gait, Ataxia, Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Hypoglycemia, Leucine-Induced |
|
Ataxia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
Citrullinemia Type Ii |
|
Hepatomegaly, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hepatoc... |
ORPHA:247585 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal cyst, Splenomeg... |
OMIM:263200 |
Nephronophthisis 2 |
|
Hyperkalemia, Chronic tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creati... |
OMIM:602088 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Hyponatremia, Decreased HDL cholesterol concentration, Hypoproteinemia, Leukopenia,... |
OMIM:267700 |
Mody |
|
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... |
ORPHA:552 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... |
ORPHA:276608 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypergalactosemia, Hypoglycemia, Increased level of galactitol in urine, Hyperchole... |
ORPHA:79237 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... |
ORPHA:567548 |
Lipodystrophy, Familial Partial, Type 7 |
|
Insulin resistance, Dysmetria, Glucose intolerance, Impaired glucose tolerance, Pancreatitis, Hyp... |
OMIM:606721 |
Omenn Syndrome |
|
Hepatomegaly, B lymphocytopenia, Hypoproteinemia, Lymphadenopathy, Hypoplasia of the thymus, Anem... |
OMIM:603554 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Elevated circulating growth hormone conc... |
ORPHA:90301 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Insulin-resistant diabetes mellitus at puberty, Hepatic steatosis, Hypertriglyc... |
ORPHA:280356 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Periventricular Nodular Heterotopia 1 |
|
Abnormality of neuronal migration, Gray matter heterotopia |
OMIM:300049 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Insulin resistance, Pancreatitis, Hepatic steatosis, Diabetes mellitus, Hyperinsuli... |
ORPHA:79084 |
Periventricular Nodular Heterotopia 7 |
|
Periventricular nodular heterotopia, Gray matter heterotopia |
OMIM:617201 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Cystic renal dysplasia, Hepatomegaly, Hepatic fibrosis, Asplenia, Cholestasis, Enlarged kidney |
OMIM:615415 |
Autosomal Dominant Polycystic Kidney Disease |
|
Pancreatic cysts, Elevated circulating creatinine concentration, Pituitary growth hormone cell ad... |
ORPHA:730 |
Tyrosinemia, Type I |
|
Hepatomegaly, Renal Fanconi syndrome, Hypophosphatemic rickets, Hypoglycemia, Hepatocellular carc... |
OMIM:276700 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Cirrhosis, Hypercholesterolemia, Hyp... |
OMIM:605814 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Cirrhosis, Hepatic steatosis, Hyperactivity, Ataxia, Hypertrigl... |
ORPHA:363400 |
Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... |
ORPHA:411593 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Pancreatitis, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased c... |
OMIM:207750 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Lethargy, Hepatomegaly, Hepatic calcification, Ureteral duplication, Hydronephrosis, Decreased pl... |
OMIM:608836 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Renal Fanconi syndrome, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased h... |
ORPHA:263455 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Periventricular nodular heterotopia |
OMIM:618572 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Focal segmental glomerulosclerosis, Hypoglycemia, Hepatocellular carcinoma, Hyperli... |
OMIM:232200 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia |
ORPHA:71529 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Focal segmental glomerulosclerosis, Neutropenia, Hypoglycemia, Hepatocellular carci... |
OMIM:232220 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Hypoproteinemia, Lymphopenia |
OMIM:207731 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Steppage gait, Ataxia, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Hyperlipidemia, Familial Combined, 3 |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... |
OMIM:144250 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... |
OMIM:208540 |
Chudley-Mccullough Syndrome |
|
Gray matter heterotopia, Polymicrogyria |
OMIM:604213 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... |
ORPHA:79644 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Hyponatremia, Hypoproteinemia, Leukopenia, Lymphadenopathy, Anemia, Increased total... |
OMIM:603553 |
Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia |
OMIM:152800 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:603813 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal insufficiency, Bone-marrow foam cells, Splenomegaly, Hepatosplenomegaly, Hypersplenism, S... |
OMIM:278000 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Lissencephaly, Periventricular ribbonlike heterotopia |
OMIM:618677 |
Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Nep... |
OMIM:616730 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Neutropenia, Leukopenia,... |
OMIM:617303 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Gray matter heterotopia, Type II lissencephaly, Dysgyria |
ORPHA:352682 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... |
ORPHA:93108 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Decreased HDL cholesterol concentration, Insulin-resistant diabetes mellitus, ... |
OMIM:604367 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Central adrenal insufficiency, Decreased response to growth hormone stimulation test, Pituitary h... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Central adrenal insufficiency, Decreased response to growth hormone stimulation test, Pituitary h... |
ORPHA:71526 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia |
OMIM:619101 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Lymphangiectasis, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Cirrhosis, Hypoa... |
OMIM:602579 |
Insulin-Resistance Syndrome Type B |
|
Increased serum testosterone level, Fasting hypoglycemia, Insulin-resistant diabetes mellitus, En... |
ORPHA:2298 |
Obesity Due To Congenital Leptin Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:66628 |
Refractory Celiac Disease |
|
Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Iron deficiency anemia, Hypophosphatemia, ... |
ORPHA:398063 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... |
OMIM:613092 |
Insulinoma |
|
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Hyperinsulinemic hypoglycemia, Fasting hy... |
ORPHA:97279 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormality of neuronal migration |
OMIM:618709 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Myoglobinuria, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Hepatic necrosis, Abnorma... |
ORPHA:71212 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hypoglycemia, Long penis, Insulin-resistant diabetes mellitus, Diabetic ket... |
OMIM:262190 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoproteinemia, Neutropenia, Hypoalbuminemia |
OMIM:600351 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating transferrin c... |
OMIM:616000 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration |
ORPHA:1980 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:179494 |
Trypsinogen Deficiency |
|
Hypoproteinemia |
OMIM:614044 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Obesity Due To Sim1 Deficiency |
|
Attention deficit hyperactivity disorder, Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Macroscopic hematuria, Hypercalcemia, Episodic hemolytic anemia, Increased blood urea nitrogen, M... |
ORPHA:251004 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Dystonia, Gait imbalance, Urinary bladder sphincter dysfunction, Elevated circulating creatine ki... |
ORPHA:64753 |
Leptospirosis |
|
Hepatomegaly, Hyperproteinemia, Lymphadenopathy, Hepatitis, Acute kidney injury, Thrombocytopenia... |
ORPHA:509 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Precocious puberty in females, Insulin resistance, Cirrhosis, Hepatic steatosis, Hy... |
ORPHA:528 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Pulmonary lymphangiectasia, Hepatomegaly, Hydronephrosis, Hypoproteinemia, Splenomegaly, Thyroid ... |
OMIM:235255 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Dengue Fever |
|
Hypoproteinemia, Hepatomegaly, Leukopenia, Thrombocytopenia, Lethargy |
ORPHA:99828 |
Perlman Syndrome |
|
Hepatomegaly, Abnormal pancreas morphology, Hypoplasia of penis, Nephroblastoma, Hyperinsulinemia |
ORPHA:2849 |
Sitosterolemia 1 |
|
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Splenom... |
OMIM:210250 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Pancreatitis, Lactescent serum, Splenomegaly, Hypercholesterolemia, Hepatosplenom... |
OMIM:238600 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Abnormal lymphatic vessel morphology, Lymphangioma, Abnormality of the lymphati... |
ORPHA:464329 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Hypercholesterolemia, Ataxia, Truncal ataxia, Hypoalbuminemia, Limb ataxia, Gait ataxia |
OMIM:208920 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen content, Tubulointerstitial fibrosis, Ne... |
ORPHA:79259 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypergalactosemia, Hyperammonemia, Hepatosplenomegaly, Hyperthreoninemia, Hypermethioninemia, Jau... |
ORPHA:247598 |
Igg4-Related Kidney Disease |
|
Tubulointerstitial nephritis, Lymphadenopathy, Chronic kidney disease, Eosinophilia, Elevated cir... |
ORPHA:449395 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Cirrhosis, Hypercholesterolemia, Conjuga... |
OMIM:619662 |
Hemimegalencephaly |
|
Abnormal neuron morphology, Pachygyria, Gray matter heterotopia, Polymicrogyria |
ORPHA:99802 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia, Lymphopenia |
ORPHA:1116 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Delayed thelarche, Delayed puberty |
OMIM:616033 |
Retinitis Pigmentosa |
|
Hypogonadism, Hypoplasia of penis, Type II diabetes mellitus, Hyperinsulinemia |
ORPHA:791 |
Laron Syndrome |
|
Hypoglycemia, Abnormality of the endocrine system, Hypercholesterolemia, Hypoplasia of penis, Del... |
ORPHA:633 |
Johanson-Blizzard Syndrome |
|
Hypospadias, Hypoproteinemia, Hydronephrosis, Anemia, Abnormality of the pancreas, Diabetes melli... |
ORPHA:2315 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Myoglobinuria, Portal fibrosis, Hepatic fibrosis, Hepatocellu... |
ORPHA:370 |
Bdv Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... |
OMIM:619326 |
Lysinuric Protein Intolerance |
|
Tubulointerstitial nephritis, Oroticaciduria, Decreased glomerular filtration rate, Decreased res... |
ORPHA:470 |
Temple Syndrome |
|
Maturity-onset diabetes of the young, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Myoglobinuria, Hepatic fibrosis, Hepatocellular carcinoma, El... |
ORPHA:79240 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Pulmonary lymphangiectasia, Hepatomegaly, Hydronephrosis, Hypoproteinemia, Splenomegaly, Hepatosp... |
ORPHA:1655 |
H Syndrome |
|
Lymphadenopathy, Abnormality of the kidney, Hypogonadism, Hepatosplenomegaly, Microcytic anemia, ... |
ORPHA:168569 |
Immunodeficiency 43 |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:241600 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Myoglobinuri... |
ORPHA:264580 |
Autosomal Recessive Polycystic Kidney Disease |
|
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Splenomegaly, Biliary... |
ORPHA:731 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Ataxia, Xanthelasma, Hypertriglyce... |
OMIM:277460 |
Symmetrical Thalamic Calcifications |
|
Abnormality of neuronal migration |
ORPHA:1314 |
Mpi-Cdg |
|
Hepatomegaly, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Hypothyroidism, Hypoalbuminemia, P... |
ORPHA:79319 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Abnormal lymphatic vessel morphology, Anemia, Hypocalcemia, Reduced proportion o... |
ORPHA:90362 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Ab... |
ORPHA:99886 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholangitis, Hepatocellular carcinoma, Biliary tract obstruction, Cholelithiasis, Pancreatitis, N... |
ORPHA:69663 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoproteinemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase con... |
ORPHA:26793 |
Galloway-Mowat Syndrome 7 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Nep... |
OMIM:618348 |
Alstrom Syndrome |
|
Hepatomegaly, Chronic active hepatitis, Decreased HDL cholesterol concentration, Tubulointerstiti... |
OMIM:203800 |
Maternal Hyperthermia-Induced Birth Defects |
|
Abnormality of neuronal migration |
ORPHA:2216 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, H... |
ORPHA:412 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
Bangstad Syndrome |
|
Increased circulating cortisol level, Ataxia, Abnormality of the parathyroid gland, Type I diabet... |
ORPHA:1227 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Smith-Magenis Syndrome |
|
Abnormality of the urinary system, Hypercholesterolemia, Hyperactivity, Hypertriglyceridemia, Abn... |
OMIM:182290 |
Cog4-Cdg |
|
Cirrhosis, Hypercholesterolemia, Hepatosplenomegaly, Ataxia, Thrombocytopenia |
ORPHA:263501 |
Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin |
ORPHA:86816 |
Chédiak-Higashi Syndrome |
|
Neutropenia, Lymphadenopathy, Splenomegaly, Increased circulating ferritin concentration, Hepatos... |
ORPHA:167 |
Leprechaunism |
|
Central hypothyroidism, Hepatomegaly, Fasting hypoglycemia, Long penis, Insulin resistance, Nephr... |
ORPHA:508 |
Acrocephalopolydactylous Dysplasia |
|
Cystic renal dysplasia, Hepatomegaly, Hepatic fibrosis, Pancreatic fibrosis, Polysplenia, Enlarge... |
OMIM:200995 |
Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Renal angiomyolipoma,... |
ORPHA:276152 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid... |
ORPHA:79086 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Hypoproteinemia, Thrombocytosis, Iron deficiency anemia, Hypoalbuminemia |
OMIM:226300 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Diaphanospondylodysostosis |
|
Cystic renal dysplasia, Nephrogenic rest, Nephroblastomatosis, Abnormal liver lobulation, Enlarge... |
OMIM:608022 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Hypercholesterolemia, Precocious puberty |
ORPHA:254531 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia |
ORPHA:329249 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Heavy proteinuria, Leukopenia, Nephrotic syndrome, Anemia, Bone marrow hypocellularity, Hepatospl... |
ORPHA:505248 |
Estrogen Resistance |
|
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia |
OMIM:615363 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Lethargy, Goiter, Neonatal hyperbilirubinemia, Thyroid hypoplasia, Abnormal circulating thyroglob... |
ORPHA:90674 |
Donohue Syndrome |
|
Fasting hypoglycemia, Hepatic fibrosis, Long penis, Hyperglycemia, Precocious puberty, Pancreatic... |
OMIM:246200 |
Lissencephaly 5 |
|
Gray matter heterotopia, Subcortical band heterotopia, Type II lissencephaly |
OMIM:615191 |
Morgagni-Stewart-Morel Syndrome |
|
Abnormality of the endocrine system, Hyperuricemia, Hypercholesterolemia, Diabetes mellitus, Hypo... |
ORPHA:77296 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... |
OMIM:619313 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Acute hepatic steatosis, Hepatitis, Macrovesicular hepat... |
ORPHA:209902 |
Ménétrier Disease |
|
Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia |
ORPHA:2494 |
Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Pachygyria, Polymicrogyria, Gray matter heterotopia, Lissencephaly |
ORPHA:300573 |
Brain Small Vessel Disease 2 |
|
Subcortical heterotopia, Polymicrogyria |
OMIM:614483 |
Mental Retardation, Autosomal Dominant 13 |
|
Abnormality of neuronal migration, Pachygyria |
OMIM:614563 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia, Exocrine pancreatic insufficiency |
OMIM:260450 |
Mandibuloacral Dysplasia |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Glucose intolerance, Increased circulati... |
ORPHA:2457 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Cong... |
OMIM:143400 |
Lissencephaly 6 With Microcephaly |
|
Microlissencephaly, Periventricular heterotopia, Simplified gyral pattern, Pachygyria, Polymicrog... |
OMIM:616212 |
Beckwith-Wiedemann Syndrome |
|
Renal cortical cysts, Adrenocortical carcinoma, Adrenocortical cytomegaly, Hepatomegaly, Nephroca... |
OMIM:130650 |
Pierson Syndrome |
|
Hypoproteinemia, Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis,... |
OMIM:609049 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Type II diabetes mellitus, Hyperinsulinemia, Hypergonadotropic hypogonadism |
ORPHA:3085 |
Smith-Magenis Syndrome |
|
Gait disturbance, Abnormality of the ureter, Abnormal localization of kidney, Hypercholesterolemi... |
ORPHA:819 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Insulin resistance, Elevated circulating creatine kinase concentration, Splenomegal... |
OMIM:613327 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Hypoproteinemia, Jaundice |
OMIM:608093 |
Beckwith-Wiedemann Syndrome |
|
Hypoglycemia, Congenital megaureter, Neonatal hypoglycemia, Splenomegaly, Nephropathy, Hypercalci... |
ORPHA:116 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Insulin-resistant diabetes mellitus, Hyper... |
OMIM:151660 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Anemia, Increase... |
ORPHA:230 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney |
ORPHA:79128 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia, Type II diabetes mellitus, Renovascular hypertension |
ORPHA:401923 |
Autosomal Recessive Primary Microcephaly |
|
Gray matter heterotopia, Pachygyria |
ORPHA:2512 |
Endocrine-Cerebroosteodysplasia |
|
Hypospadias, Adrenal hypoplasia, Micropenis, Hyperechogenic kidneys, Microphallus, Enlarged kidney |
OMIM:612651 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Gray matter heterotopia, Pachygyria |
ORPHA:370980 |
Rabson-Mendenhall Syndrome |
|
Increased serum testosterone level, Fasting hypoglycemia, Long penis, Insulin resistance, Insulin... |
ORPHA:769 |
Dysplastic Cortical Hyperostosis |
|
Abnormality of neuronal migration |
ORPHA:2204 |
Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration |
OMIM:603776 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Abnormality of the lymphatic system, Nephroblastoma, Enlarged kidney |
ORPHA:276280 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Nephrolithiasis, Splenomegaly, Cirr... |
OMIM:608594 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Abnormality of neuronal migration |
OMIM:614887 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Abnormality of neuronal migration, Pachygyria |
OMIM:608840 |
Acalvaria |
|
Abnormality of neuronal migration |
ORPHA:945 |
Lysosomal Acid Lipase Deficiency |
|
Hyperkalemia, Microvesicular hepatic steatosis, Hyponatremia, Hepatic fibrosis, Vacuolated lympho... |
ORPHA:275761 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Nephrolithiasis, Splenomegaly, Cirr... |
OMIM:269700 |
Estrogen Resistance Syndrome |
|
Glucose intolerance, Absence of pubertal development, Absence of secondary sex characteristics, I... |
ORPHA:785 |
Subependymal Nodular Heterotopia |
|
Abnormality of neuronal migration, Gray matter heterotopia, Polymicrogyria |
ORPHA:101030 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Leukocytosis, Hyperglycemia, Left ventricular hypertrophy, Hypercholesterolemia, Hypothyroidism, ... |
ORPHA:90065 |
Alagille Syndrome 1 |
|
Renal hypoplasia, Focal segmental glomerulosclerosis, Hepatocellular carcinoma, Renal tubular aci... |
OMIM:118450 |
Pearson Syndrome |
|
Adrenal insufficiency, Neutropenia, Lacticaciduria, Hypophosphatemia, Splenomegaly, Steatorrhea, ... |
ORPHA:699 |
Mirage Syndrome |
|
Hypospadias, Hyponatremia, Adrenal insufficiency, Hyperkalemia, Hypoglycemia, Leukopenia, Anemia,... |
OMIM:617053 |
Immunodeficiency 47 |
|
Hepatomegaly, Normocytic anemia, Hepatic fibrosis, Leukopenia, Thrombocytopenia, Splenomegaly, Ci... |
OMIM:300972 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Maturity-onset diabetes of the young, Hypercholesterolemia, Precocious puberty |
ORPHA:96184 |
Gracile Bone Dysplasia |
|
Micropenis, Hypoplastic spleen, Asplenia, Hypocalcemia |
OMIM:602361 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Hyperins... |
OMIM:608612 |
Woodhouse-Sakati Syndrome |
|
Dystonia, Streak ovary, Hyperlipidemia, Insulin-resistant diabetes mellitus, Decreased serum estr... |
ORPHA:3464 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De... |
OMIM:174000 |
Alg9-Cdg |
|
Hepatomegaly, Hydronephrosis, Abnormal renal artery morphology, Torticollis, Hepatic cysts, Hypop... |
ORPHA:79328 |
Leber Congenital Amaurosis |
|
Abnormality of neuronal migration |
ORPHA:65 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Abnormality of neuronal migration, 4-layered lissencephaly, Microlissencephaly |
ORPHA:89844 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Renal dysplasia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney |
OMIM:613091 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Dystonia, Hypoglycemia, Type II diabetes mellitus, Hypogonadotropic hypog... |
ORPHA:453533 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... |
ORPHA:300373 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypoglycemia, Urinary retention, Abnormality of the peritoneum, Neoplasm of the liver, Recurrent ... |
ORPHA:2126 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperglycemia, Impaired glucose ... |
OMIM:248370 |
Bardet-Biedl Syndrome 20 |
|
Pancreatitis, Hypercholesterolemia, Micropenis, Male hypogonadism, Proteinuria |
OMIM:619471 |
Megalocornea-Mental Retardation Syndrome |
|
Hypercholesterolemia, Ataxia, Primary hypothyroidism |
OMIM:249310 |
Meacham Syndrome |
|
Horseshoe kidney, Accessory spleen, Enlarged kidney |
OMIM:608978 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Pancreatic hypoplasia, Ureteropelvic junction obstruction, Diabetes mellitus, Unilat... |
OMIM:137920 |
Microphthalmia, Syndromic 9 |
|
Horseshoe kidney, Hydronephrosis, Renal hypoplasia, Renal malrotation, Pelvic kidney, Multilobula... |
OMIM:601186 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia, Ataxia, Hypothyroidism |
ORPHA:2479 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2772 |
Tetrasomy 18P |
|
Abnormality of neuronal migration |
ORPHA:3307 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Chronic neutropenia, Renal malrotation, Bifid ureter, Multicystic kidney dysplasia, Transient neu... |
ORPHA:500095 |
Prader-Willi Syndrome |
|
Adrenal insufficiency, Type II diabetes mellitus, Hypogonadotropic hypogonadism, Attention defici... |
OMIM:176270 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Gray matter heterotopia |
OMIM:617008 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypophosphatemia, Proximal renal tubular acidosis, Oligosacchariduria, Hyperaldosteronism, Hyperc... |
ORPHA:534 |
Hypomelanosis Of Ito |
|
Gray matter heterotopia |
OMIM:300337 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypospadias, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Walker-Warburg Syndrome |
|
Abnormality of neuronal migration, Abnormal cortical gyration, Pachygyria, Macrogyria, Polymicrog... |
ORPHA:899 |
Joubert Syndrome 30 |
|
Gray matter heterotopia |
OMIM:617622 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Gray matter heterotopia, Lissencephaly, Simplified gyral pattern |
OMIM:615219 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Lissencephaly, Pachygyria, Polymicrogyria, Agyria, Subcortical heterotopia, Gray matter heterotop... |
OMIM:614643 |
Poretti-Boltshauser Syndrome |
|
Gray matter heterotopia |
OMIM:615960 |
Edinburgh Malformation Syndrome |
|
Abnormality of neuronal migration |
ORPHA:1895 |
Oculocerebrocutaneous Syndrome |
|
Gray matter heterotopia |
OMIM:164180 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Abnormality of the intrahepatic bile duct, Hypercholesterolemia, Pulmonary carcinoid tumor, Hyper... |
ORPHA:363618 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of neuronal migration |
ORPHA:44 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormality of neuronal migration, Abnormal cortical gyration, Pachygyria, Macrogyria, Polymicrog... |
ORPHA:2211 |
Acromelic Frontonasal Dysostosis |
|
Gray matter heterotopia, Periventricular nodular heterotopia |
OMIM:603671 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Gray matter heterotopia, Type II lissencephaly |
OMIM:615287 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Periventricular heterotopia |
OMIM:618974 |
Desmosterolosis |
|
Abnormality of neuronal migration, Abnormal cortical gyration, Pachygyria, Macrogyria, Polymicrog... |
ORPHA:35107 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Splenomegaly, Increased circulating ferritin concentration, Anterior pituitary hypoplasia, Medull... |
OMIM:619534 |
Fragile X Syndrome |
|
Periventricular heterotopia |
OMIM:300624 |
Thanatophoric Dysplasia Type 2 |
|
Abnormality of neuronal migration |
ORPHA:93274 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hypospadias, Hepatomegaly, Hydronephrosis, Right ventricular hypertrophy, Renal cyst, Hepatoblast... |
OMIM:312870 |
Pseudo-Torch Syndrome 2 |
|
Gray matter heterotopia, Polymicrogyria |
OMIM:617397 |
Steinert Myotonic Dystrophy |
|
Testicular atrophy, Non-medullary thyroid carcinoma, Gait disturbance, Insulin resistance, Second... |
ORPHA:273 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Abnormality of neuronal migration |
OMIM:300957 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Horseshoe kidney, Type II diabetes mellitus, Hepatic fibrosis, Hyperlipidemia, Glucose intoleranc... |
ORPHA:99413 |
Turner Syndrome |
|
Horseshoe kidney, Type II diabetes mellitus, Hepatic fibrosis, Hyperlipidemia, Glucose intoleranc... |
ORPHA:881 |
Mosaic Monosomy X |
|
Horseshoe kidney, Type II diabetes mellitus, Hepatic fibrosis, Hyperlipidemia, Glucose intoleranc... |
ORPHA:99228 |
Monosomy X |
|
Horseshoe kidney, Type II diabetes mellitus, Hepatic fibrosis, Hyperlipidemia, Glucose intoleranc... |
ORPHA:99226 |
Thanatophoric Dysplasia |
|
Gray matter heterotopia |
ORPHA:2655 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypercholesterolemia |
OMIM:615812 |
Periventricular Nodular Heterotopia |
|
Periventricular heterotopia |
ORPHA:98892 |
Lowe Oculocerebrorenal Syndrome |
|
Hyperphosphaturia, Renal Fanconi syndrome, Elevated maternal serum alpha-fetoprotein, Proximal re... |
OMIM:309000 |
Atypical Werner Syndrome |
|
Type II diabetes mellitus, Abnormality of circulating leptin level, Insulin-resistant diabetes me... |
ORPHA:79474 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormal neuron morphology, Abnormality of neuronal migration |
ORPHA:163681 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Gray matter heterotopia, Type II lissencephaly, Polymicrogyria |
ORPHA:370959 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2518 |
Neu-Laxova Syndrome |
|
Abnormality of neuronal migration, Abnormal cortical gyration, Pachygyria, Macrogyria, Polymicrog... |
ORPHA:2671 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Pachygyria, Periventricular heterotopia |
ORPHA:255138 |
Alkuraya-Kucinskas Syndrome |
|
Gray matter heterotopia, Lissencephaly |
OMIM:617822 |
Thanatophoric Dysplasia, Type I |
|
Gray matter heterotopia |
OMIM:187600 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2063 |
Joubert Syndrome |
|
Abnormality of neuronal migration, Polymicrogyria |
ORPHA:475 |
Van Maldergem Syndrome 1 |
|
Subcortical band heterotopia, Periventricular nodular heterotopia, Simplified gyral pattern, Pach... |
OMIM:601390 |
Neurocutaneous Melanocytosis |
|
Abnormality of neuronal migration |
ORPHA:2481 |
Galloway-Mowat Syndrome |
|
Abnormality of neuronal migration, Pachygyria |
ORPHA:2065 |
Alström Syndrome |
|
Hyperlipidemia, Hepatitis, Splenomegaly, Elevated circulating thyroid-stimulating hormone concent... |
ORPHA:64 |
3C Syndrome |
|
Abnormality of neuronal migration |
ORPHA:7 |
Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Hepatic steatosis,... |
ORPHA:391665 |
Chiari Malformation Type Ii |
|
Gray matter heterotopia |
OMIM:207950 |
Man1B1-Cdg |
|
Periventricular heterotopia |
ORPHA:397941 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Abnormality of neuronal migration, Pachygyria, Polymicrogyria |
ORPHA:157 |
Radio-Tartaglia Syndrome |
|
Gray matter heterotopia |
OMIM:619312 |
9Q21.13 Microdeletion Syndrome |
|
Gray matter heterotopia |
ORPHA:531151 |
Ventriculomegaly With Cystic Kidney Disease |
|
Gray matter heterotopia |
OMIM:219730 |
Joubert Syndrome With Oculorenal Defect |
|
Abnormality of neuronal migration |
ORPHA:2318 |
Leukocyte Adhesion Deficiency |
|
Leukocytosis, Thrombocytosis, Peritonitis, Polycythemia, Hyperinsulinemic hypoglycemia, Bone marr... |
ORPHA:2968 |
Juvenile Polyposis Syndrome |
|
Hypoproteinemia, Anemia, Neoplasm of the pancreas, Extrahepatic portal hypertension, Hepatic arte... |
ORPHA:2929 |
Vici Syndrome |
|
Gray matter heterotopia |
ORPHA:1493 |
Orofaciodigital Syndrome Xvi |
|
Gray matter heterotopia |
OMIM:617563 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Gray matter heterotopia |
OMIM:618797 |
Coffin-Lowry Syndrome |
|
Abnormality of neuronal migration |
ORPHA:192 |
Van Maldergem Syndrome 2 |
|
Gray matter heterotopia, Subcortical band heterotopia, Periventricular nodular heterotopia |
OMIM:615546 |
Miller-Dieker Lissencephaly Syndrome |
|
Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria |
OMIM:247200 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormality of neuronal migration, Pachygyria, Polymicrogyria |
ORPHA:228308 |
Alg11-Cdg |
|
Gray matter heterotopia |
ORPHA:280071 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Periventricular heterotopia |
OMIM:618476 |
Thanatophoric Dysplasia Type 1 |
|
Gray matter heterotopia |
ORPHA:1860 |
Pmm2-Cdg |
|
Hepatic fibrosis, Nephrotic syndrome, Insulin resistance, Hypogonadotropic hypogonadism, Abnormal... |
ORPHA:79318 |
16P13.11 Microdeletion Syndrome |
|
Abnormality of neuronal migration |
ORPHA:261236 |
Tenorio Syndrome |
|
Gait disturbance, Hypoinsulinemia, Hypoglycemia |
OMIM:616260 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gray matter heterotopia |
ORPHA:26791 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Periventricular heterotopia |
OMIM:618870 |
6Q Terminal Deletion Syndrome |
|
Abnormality of neuronal migration, Gray matter heterotopia, Polymicrogyria, Periventricular heter... |
ORPHA:75857 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Gray matter heterotopia, Polymicrogyria |
OMIM:214100 |
Bohring-Opitz Syndrome |
|
Gray matter heterotopia |
OMIM:605039 |
Periventricular Nodular Heterotopia 9 |
|
Gray matter heterotopia, Polymicrogyria, Periventricular nodular heterotopia |
OMIM:618918 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Periventricular heterotopia |
OMIM:618929 |
Joubert Syndrome With Hepatic Defect |
|
Abnormality of neuronal migration |
ORPHA:1454 |
Bilateral Perisylvian Polymicrogyria |
|
Abnormality of neuronal migration, Bilateral perisylvian polymicrogyria, Perisylvian predominant ... |
ORPHA:98889 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Periventricular heterotopia, Simplified gyral pattern, Pachygyria, Polymicrogyria, Lissencephaly |
ORPHA:468631 |
Orofaciodigital Syndrome Type 6 |
|
Abnormality of neuronal migration |
ORPHA:2754 |
Cerebrofacioarticular Syndrome |
|
Gray matter heterotopia |
ORPHA:314679 |
16Q24.3 Microdeletion Syndrome |
|
Periventricular heterotopia |
ORPHA:261250 |
Koolen-De Vries Syndrome |
|
Gray matter heterotopia |
OMIM:610443 |
Vici Syndrome |
|
Gray matter heterotopia |
OMIM:242840 |
Holoprosencephaly |
|
Abnormality of neuronal migration |
ORPHA:2162 |
Orofaciodigital Syndrome I |
|
Abnormal cortical gyration, Gray matter heterotopia |
OMIM:311200 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Abnormality of neuronal migration |
ORPHA:464311 |
Aicardi Syndrome |
|
Gray matter heterotopia, Pachygyria, Polymicrogyria |
OMIM:304050 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Gray matter heterotopia |
ORPHA:453499 |
Neuromuscular Oculoauditory Syndrome |
|
Periventricular heterotopia |
OMIM:618733 |
Opitz-Kaveggia Syndrome |
|
Gray matter heterotopia |
OMIM:305450 |
Mismatch Repair Cancer Syndrome 1 |
|
Gray matter heterotopia |
OMIM:276300 |
Nijmegen Breakage Syndrome |
|
Abnormality of neuronal migration |
ORPHA:647 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Abnormality of neuronal migration |
ORPHA:3186 |
Arima Syndrome |
|
Gray matter heterotopia |
OMIM:243910 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Gray matter heterotopia |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Gray matter heterotopia |
ORPHA:352665 |
Pagod Syndrome |
|
Abnormality of neuronal migration |
ORPHA:991 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Gray matter heterotopia, Polymicrogyria |
OMIM:618820 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Gray matter heterotopia, Pachygyria |
OMIM:210710 |
Fontaine Progeroid Syndrome |
|
Gray matter heterotopia, Periventricular heterotopia |
OMIM:612289 |
Smith-Lemli-Opitz Syndrome |
|
Periventricular heterotopia |
OMIM:270400 |
Hydrolethalus Syndrome 1 |
|
Abnormal cortical gyration, Gray matter heterotopia |
OMIM:236680 |
Orofaciodigital Syndrome Xiv |
|
Polymicrogyria, Simplified gyral pattern, Periventricular heterotopia |
OMIM:615948 |
Proteus Syndrome |
|
Gray matter heterotopia |
ORPHA:744 |
Orofaciodigital Syndrome Type 14 |
|
Periventricular heterotopia |
ORPHA:434179 |
Genitopatellar Syndrome |
|
Periventricular heterotopia |
OMIM:606170 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Polymicrogyria, Periventricular heterotopia |
ORPHA:261537 |
Mowat-Wilson Syndrome |
|
Polymicrogyria, Periventricular heterotopia |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Polymicrogyria, Periventricular heterotopia |
ORPHA:261552 |