Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, In... |
OMIM:613370 |
Transient Neonatal Diabetes Mellitus |
|
Hypothyroidism, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Small for gestationa... |
ORPHA:99886 |
Chudley-Mccullough Syndrome |
|
Gray matter heterotopia, Hydrocephalus, Partial agenesis of the corpus callosum, Dysplastic corpu... |
OMIM:604213 |
Lipodystrophy, Familial Partial, Type 1 |
|
Increased facial adipose tissue, Loss of gluteal subcutaneous adipose tissue, Increased adipose t... |
OMIM:608600 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Severe failure to thrive, Intrauterine growt... |
OMIM:601410 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... |
OMIM:601820 |
Sub-Cortical Nodular Heterotopia |
|
Subcortical heterotopia, Abnormality of neuronal migration, Agenesis of corpus callosum, Polymicr... |
ORPHA:101029 |
Mody |
|
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, E... |
ORPHA:552 |
Lissencephaly, X-Linked, 1 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria, Agenesis of corpus callosum |
OMIM:300067 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Short stature, Increased circulat... |
ORPHA:171706 |
Lissencephaly 3 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria, Periventricular laminar heterotopia, ... |
OMIM:611603 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... |
OMIM:256450 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia, Short stature, Polyphagia, Hyperglycemia, Obesity |
ORPHA:329249 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Polyphagia, Polydipsia |
OMIM:222100 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hyperinsulinemia, Childhood-onset truncal obesity, Decreased response to growth hormone stimulati... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hyperinsulinemia, Childhood-onset truncal obesity, Decreased response to growth hormone stimulati... |
ORPHA:71526 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Cirrhosis, Loss of gluteal subcutaneous adipose tissue, Type II diabetes mellit... |
OMIM:604367 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria |
OMIM:615411 |
Donohue Syndrome |
|
Hyperinsulinemia, Hepatic fibrosis, Precocious puberty, Adipose tissue loss, Postprandial hypergl... |
OMIM:246200 |
Band Heterotopia |
|
Gray matter heterotopia, Lateral ventricle dilatation, Hydrocephalus, Subcortical band heterotopi... |
OMIM:600348 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Abnormality of neuronal migration |
OMIM:618709 |
Lissencephaly 1 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria |
OMIM:607432 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:619101 |
Hereditary Central Diabetes Insipidus |
|
Weight loss, Diabetes insipidus, Growth delay, Polydipsia |
ORPHA:30925 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Precocious puberty, Short stature, Diabetic ketoacidosis, Small for gestational... |
OMIM:262190 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... |
ORPHA:453533 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism |
OMIM:307500 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Ketotic hypoglycemia, Small for gestational age, Mate... |
ORPHA:324575 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Failure to thrive, Hyperinsulin... |
OMIM:606762 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Gray matter heterotopia, Hydrocephalus, Type II lissencephaly, Dysgyria, Occipital encephalocele |
ORPHA:352682 |
Rabson-Mendenhall Syndrome |
|
Hypothyroidism, Precocious puberty, Increased serum testosterone level, Short stature, Impaired g... |
ORPHA:769 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Maternal diabetes, Type I diabetes mellitus, Hyperins... |
ORPHA:276580 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Small for gestational age, Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia, Intrauteri... |
OMIM:606176 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hypoketotic hypoglycemia, Hyperhidrosis, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Agitati... |
ORPHA:276608 |
Pediatric-Onset Graves Disease |
|
Hyperhidrosis, Hyperactivity, Jaundice, Increased circulating T4 concentration, Thyrotoxicosis wi... |
ORPHA:525731 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Type I diabetes mellitus, Hyperinsulinemic hypoglycem... |
ORPHA:276575 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hyperinsulinemia, Increased facial adipose tissue, Type II diabetes mellitus, Reduced subcutaneou... |
OMIM:151660 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Polycystic ovaries, H... |
ORPHA:79084 |
Glycogen Storage Disease Vi |
|
Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly, Failure to thrive in infancy, Pos... |
OMIM:232700 |
Bardet-Biedl Syndrome 9 |
|
Polyphagia, Truncal obesity, Hyperglycemia, Obesity, Polydipsia |
OMIM:615986 |
Microlissencephaly |
|
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... |
ORPHA:1083 |
Cystinosis |
|
Hypothyroidism, Short stature, Type I diabetes mellitus, Failure to thrive, Delayed puberty, Port... |
ORPHA:213 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Acholic stools, Diabetes mellitus, Ch... |
OMIM:615710 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Hypogonadism, Short stature, Hypoglycemia, Postnatal growth retardation |
OMIM:616113 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young |
OMIM:609812 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... |
OMIM:615954 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Flexion contracture, Type I diabetes mellitus |
OMIM:618856 |
Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Flexion contracture, Reduced subcutaneous adipose tissue, Diabetes mellitu... |
OMIM:609069 |
Renal Glucosuria |
|
Glycosuria, Polyphagia, Polydipsia |
OMIM:233100 |
Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... |
OMIM:147630 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Gray matter heterotopia, Agyria, Pachygyria |
ORPHA:1084 |
Septo-Optic Dysplasia Spectrum |
|
Diabetes insipidus, Hypohidrosis, Anterior pituitary hypoplasia, Short stature, Maternal diabetes... |
ORPHA:3157 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Loss of glute... |
ORPHA:280356 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... |
OMIM:609968 |
Acalvaria |
|
Spina bifida, Holoprosencephaly, Hydrocephalus, Abnormality of neuronal migration |
ORPHA:945 |
Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
Familial Renal Glucosuria |
|
Glycosuria, Insulin resistance, Moderate postnatal growth retardation, Hyperglycemia, Abnormal or... |
ORPHA:69076 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoketotic hypoglycemia, Large for gestational age, Hyperinsulinemic hypoglycemia, Diffuse pancr... |
ORPHA:276556 |
Subependymal Nodular Heterotopia |
|
Meningocele, Gray matter heterotopia, Myelomeningocele, Abnormality of neuronal migration, Partia... |
ORPHA:101030 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular heterotopia, Periventricular nodular heterotopia |
OMIM:608097 |
Insulin-Resistance Syndrome Type B |
|
Biliary cirrhosis, Decreased body weight, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia... |
ORPHA:2298 |
Short Syndrome |
|
Lipoatrophy, Birth length less than 3rd percentile, Small for gestational age, Insulin resistance... |
OMIM:269880 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Dexamethasone-... |
ORPHA:403 |
Central Diabetes Insipidus |
|
Weight loss, Failure to thrive, Polydipsia, Diabetes insipidus |
ORPHA:178029 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperinsulinemia, Flexion contracture, Increased facial adipose tissue, Impaired glucose toleranc... |
OMIM:248370 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Childhood-onset truncal obesity, Increased adipose tissue, Type II diabetes mel... |
ORPHA:71529 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia, Hypergonadotropic hypogonadism, Obesity, Intrauterine growth retardation |
OMIM:619737 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating aldosterone level, Short stature, Abnormality of circulating cortisol level... |
ORPHA:320 |
Polymicrogyria Due To Tubb2B Mutation |
|
Gray matter heterotopia, Perisylvian polymicrogyria, Lateral ventricle dilatation, Lissencephaly,... |
ORPHA:300573 |
Insulin Autoimmune Syndrome |
|
Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive... |
ORPHA:411593 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperinsulinemia, Flexion contracture, Decreased adipose tissue around neck, Loss of facial adipo... |
OMIM:608612 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
Lissencephaly 5 |
|
Gray matter heterotopia, Hydrocephalus, Type II lissencephaly, Subcortical band heterotopia, Occi... |
OMIM:615191 |
Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Greig Cephalopolysyndactyly Syndrome |
|
Joint contracture of the hand, Camptodactyly of toe, Inguinal hernia, Cryptorchidism, Hyperglycem... |
OMIM:175700 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Small for gestational age, Type I diabetes mellitus, Hyperglycemia |
OMIM:618858 |
Familial Hyperaldosteronism Type Iii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Abnormal circulating ... |
ORPHA:251274 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Short stature, Ketotic hypoglycemia, Glycosuria, Failure to thrive, Postprandial hyperglycemia |
ORPHA:2089 |
Panhypophysitis |
|
Abnormal size of pituitary gland, Increased circulating prolactin concentration, Gonadotropin def... |
ORPHA:95513 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Pancreatic hypoplasia, Lower-limb joint contracture, Neonatal insulin-dependent diabetes mellitus... |
ORPHA:99885 |
Isolated Sedoheptulokinase Deficiency |
|
Flexion contracture, Short stature, Hepatitis, Arthrogryposis multiplex congenita, Inguinal herni... |
ORPHA:440713 |
Insulinoma |
|
Hyperhidrosis, Hyperinsulinemia, Nonketotic hypoglycemia, Abnormality of the pancreatic islet cel... |
ORPHA:97279 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Glycosuria, Small for gestational age, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
Bangstad Syndrome |
|
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Abnormal testis morphology, Shor... |
ORPHA:1227 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Large for gestational age, Neonatal hypoglycem... |
ORPHA:293964 |
Autosomal Recessive Primary Microcephaly |
|
Agenesis of corpus callosum, Gray matter heterotopia, Pachygyria |
ORPHA:2512 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral pattern, Lissencepha... |
OMIM:604317 |
Hyperaldosteronism, Familial, Type Iii |
|
Decreased circulating renin level, Hyperaldosteronism, Polydipsia, Adrenal hyperplasia |
OMIM:613677 |
Temple Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Short stature, Small f... |
ORPHA:254516 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hypothyroidism, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology,... |
ORPHA:93111 |
Fanconi-Bickel Syndrome |
|
Abnormal hepatic glycogen storage, Impaired glucose tolerance, Glycosuria, Hepatocellular carcino... |
ORPHA:2088 |
Whipple Disease |
|
Hypothyroidism, Cachexia, Insulin resistance, Hepatomegaly, Splenomegaly, Polydipsia |
ORPHA:3452 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Chondrocalcinosis, Weight loss, Thyroid carcinoma, Abnormality of the ... |
ORPHA:143 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hyperaldosteronism, Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible p... |
ORPHA:369929 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Failure to thrive, Short stature, Polydipsia, Diabetes insipidus |
OMIM:304800 |
Lissencephaly 6 With Microcephaly |
|
Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Microlissencephaly, Partial... |
OMIM:616212 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Failure to thrive, Short stature, Nephrogenic diabetes insipidus, Polydipsia |
OMIM:125800 |
Hyperparathyroidism, Neonatal Severe |
|
Failure to thrive, Elevated circulating parathyroid hormone level, Hepatomegaly, Primary hyperpar... |
OMIM:239200 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Cirrhosis, Weight loss, Cholangiocarcinoma, Hepatocellular carcinoma, Diabetes me... |
ORPHA:465508 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Short stature, Attention deficit hyperactivity disorder, Polyphagia, Obesity, G... |
ORPHA:369873 |
Familial Cold Urticaria |
|
Hyperhidrosis, Polydipsia |
ORPHA:47045 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Short stature, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Diabetes mellitus, Delayed p... |
OMIM:616033 |
Primary Unilateral Adrenal Hyperplasia |
|
Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldosteronism, Polydip... |
ORPHA:231580 |
Senior-Loken Syndrome 4 |
|
Polydipsia |
OMIM:606996 |
Bdv Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... |
OMIM:619326 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Chondrocalcinosis, Parathyroid adenoma, Thyroid carcinoma, Abnormality... |
ORPHA:99880 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Glutathionuria |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:231950 |
Acquired Central Diabetes Insipidus |
|
Weight loss, Diabetes insipidus, Polydipsia |
ORPHA:95626 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Increased circulating cortisol level, Abnormal response t... |
ORPHA:79644 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Gray matter heterotopia, Simplified gyral pattern, Communicating hydrocephalus, Lissencephaly, Co... |
OMIM:615219 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Hyperpitui... |
ORPHA:91351 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Short stature, Keloids, Decreased testicular size, Type II diabetes mellitus, P... |
ORPHA:3085 |
Gitelman Syndrome |
|
Hyperhidrosis, Parathyroid adenoma, Diabetic ketoacidosis, Type II diabetes mellitus, Neoplasm of... |
ORPHA:358 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Weight loss, Neoplasm of the liver, Abnormality of the peritoneum, Hypoglycemia, Recurrent hypogl... |
ORPHA:2126 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia |
OMIM:619468 |
Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Decreased response to growth hormone stimulation test, Short stature, Post... |
OMIM:615925 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia |
OMIM:604484 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Simplified gyral pattern, Partial agenesis of the corpus callosum, Periventricular heterotopia |
OMIM:616171 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypoketotic hypoglycemia, Hyperhidrosis, Hyperinsulinemia, Glycosuria, Large for gestational age,... |
ORPHA:263455 |
Nephronophthisis 11 |
|
Hepatic fibrosis, Growth delay, Polydipsia |
OMIM:613550 |
Wolfram Syndrome |
|
Diabetes insipidus, Hypogonadism, Male hypogonadism, Diabetes mellitus, Delayed puberty, Abnormal... |
ORPHA:3463 |
Nephrogenic Diabetes Insipidus |
|
Short stature, Failure to thrive, Growth delay, Nephrogenic diabetes insipidus, Polydipsia |
ORPHA:223 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Decreased body weight, Short stature, Decreased serum insulin-like growth factor 1... |
OMIM:608747 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:66628 |
Chiari Malformation Type Ii |
|
Gray matter heterotopia, Myelomeningocele, Spina bifida, Hydrocephalus, Cervical myelopathy, Agen... |
OMIM:207950 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Failure to thrive, Hypoglycemia, Growth delay |
OMIM:615453 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperinsulinemia, Cirrhosis, Hyperactivity, Reduced intraabdominal adipose tissue, Reduced subcut... |
ORPHA:363400 |
Ochoa Syndrome |
|
Polydipsia, Cryptorchidism |
ORPHA:2704 |
Glycogen Storage Disease Ixc |
|
Cirrhosis, Increased hepatic glycogen content, Hypoglycemia, Bile duct proliferation, Growth dela... |
OMIM:613027 |
Beta-Ketothiolase Deficiency |
|
Oral aversion, Weight loss, Agitation, Hypoglycemia, Hepatomegaly, Hyperglycemia |
ORPHA:134 |
Perlman Syndrome |
|
Hyperinsulinemia, Inguinal hernia, Hepatomegaly, Cryptorchidism, Abnormal pancreas morphology, Fe... |
ORPHA:2849 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:179494 |
Cystinosis, Nephropathic |
|
Hypohidrosis, Weight loss, Short stature, Glycosuria, Male hypogonadism, Diabetes mellitus, Delay... |
OMIM:219800 |
Necrotizing Enterocolitis |
|
Hyperglycemia, Peritonitis, Small for gestational age, Abnormal glucose homeostasis |
ORPHA:391673 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Attention deficit hyperactivity disorder, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperi... |
ORPHA:35878 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration |
ORPHA:1980 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hyperglycemia, Hypothyroidism, Alcoholism, Hypopituitarism |
ORPHA:90065 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes |
OMIM:610582 |
East Syndrome |
|
Salt craving, Hyperaldosteronism, Increased circulating renin level, Polydipsia |
ORPHA:199343 |
Bardet-Biedl Syndrome 17 |
|
Hypogonadism, Obesity, Polydipsia |
OMIM:615994 |
Oculocerebrocutaneous Syndrome |
|
Gray matter heterotopia, Agenesis of corpus callosum, Orbital encephalocele |
OMIM:164180 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
4-layered lissencephaly, Abnormality of neuronal migration, Agenesis of corpus callosum, Microlis... |
ORPHA:89844 |
Hemimegalencephaly |
|
Abnormal neuron morphology, Gray matter heterotopia, Pachygyria, Polymicrogyria |
ORPHA:99802 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity, Polyphagia |
OMIM:618406 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Short stature, Hypogonadism, Small for gestational age, Insulin resistance, Failur... |
ORPHA:73272 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Patent ductus arteriosus, Glycosuria,... |
OMIM:600001 |
Leprechaunism |
|
Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism, Decreased body weight, Enlarged ova... |
ORPHA:508 |
Gitelman Syndrome |
|
Increased circulating renin level, Failure to thrive, Delayed puberty, Growth delay, Salt craving... |
OMIM:263800 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Central hypothyroidism, Increased circulating prolactin concentration, Hypohidrosis, Gonadotropin... |
ORPHA:293987 |
Helix Syndrome |
|
Hypohidrosis, Anhidrosis, Hyperparathyroidism, Xerostomia, Polydipsia |
OMIM:617671 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hyperaldosteronism, Short stature, Increased circulating renin level, Salt craving, Polydipsia |
OMIM:612780 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Abnormal testis morphology, Hypogonadism, Type II diabetes mellitus, Atypical s... |
ORPHA:791 |
Mandibuloacral Dysplasia |
|
Hyperinsulinemia, Contractures of the large joints, Increased subcutaneous truncal adipose tissue... |
ORPHA:2457 |
Symmetrical Thalamic Calcifications |
|
Abnormality of neuronal migration |
ORPHA:1314 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia, Short stature, Postnatal growth retardation |
OMIM:619489 |
Estrogen Resistance |
|
Increased serum estradiol, Hyperinsulinemia, Impaired glucose tolerance, Breast aplasia, Polycyst... |
OMIM:615363 |
Maternal Hyperthermia-Induced Birth Defects |
|
Abnormality of neuronal migration |
ORPHA:2216 |
Leber Congenital Amaurosis |
|
Encephalocele, Abnormality of neuronal migration |
ORPHA:65 |
Infantile Nephropathic Cystinosis |
|
Abnormality of thyroid physiology, Glycosuria, Failure to thrive, Growth delay, Polydipsia |
ORPHA:411629 |
Senior-Boichis Syndrome |
|
Hepatic fibrosis, Cirrhosis, Malformation of the hepatic ductal plate, Agitation, Hepatosplenomeg... |
ORPHA:84081 |
Autosomal Recessive Polycystic Kidney Disease |
|
Pancreatic cysts, Hepatic fibrosis, Biliary hyperplasia, Periportal fibrosis, Hypersplenism, Jaun... |
ORPHA:731 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly, Short stature |
ORPHA:66518 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Short statu... |
OMIM:618160 |
Nephronophthisis 4 |
|
Growth delay, Polydipsia |
OMIM:606966 |
Nephronophthisis 3 |
|
Hepatic fibrosis, Polydipsia |
OMIM:604387 |
Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Failure to thrive, Pancreati... |
OMIM:260370 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Increased serum leptin, Insulin resistance, Polyphagia, Obesity |
OMIM:617885 |
Toxic Epidermal Necrolysis |
|
Weight loss, Pancreatitis, Polydipsia, Dysphagia |
ORPHA:537 |
Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Hyperinsulinemia, Cirrhosis, Insulin resistance, Adipose tissue lo... |
ORPHA:528 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Hyperhidrosis, Increased circulating prolactin concentration, Diabetes ... |
ORPHA:300373 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Gray matter heterotopia, Subcortical heterotopia, Encephalocele, Agyria, Hydrocephalus, Lissencep... |
OMIM:614643 |
Erdheim-Chester Disease |
|
Hyperhidrosis, Diabetes insipidus, Retroperitoneal fibrosis, Weight loss, Hypogonadotropic hypogo... |
ORPHA:35687 |
Nephronophthisis 1 |
|
Growth delay, Polydipsia |
OMIM:256100 |
Walker-Warburg Syndrome |
|
Abnormality of neuronal migration, Abnormal cortical gyration, Macrogyria, Hydrocephalus, Lissenc... |
ORPHA:899 |
Galactokinase Deficiency |
|
Hyperinsulinemia, Small for gestational age, Hepatosplenomegaly, Failure to thrive, Hypoglycemia,... |
ORPHA:79237 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Adrenocortical adenoma |
ORPHA:681 |
Proximal Renal Tubular Acidosis |
|
Enamel hypomineralization, Short stature, Glycosuria, Mild postnatal growth retardation, Failure ... |
ORPHA:47159 |
3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
Thanatophoric Dysplasia Type 2 |
|
Holoprosencephaly, Hydrocephalus, Encephalocele, Abnormality of neuronal migration |
ORPHA:93274 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus, Abnormality of neuronal migration |
ORPHA:1895 |
Atypical Werner Syndrome |
|
Hyperinsulinemia, Decreased body weight, Abnormal testis morphology, Short stature, Glycosuria, T... |
ORPHA:79474 |
Juvenile Nephropathic Cystinosis |
|
Hypothyroidism, Glycosuria, Failure to thrive, Growth delay, Polydipsia |
ORPHA:411634 |
Cole Disease |
|
Hyperglycemia |
OMIM:615522 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased circulating follicle stimulating hormone concentration, Short stature, Decreased circul... |
OMIM:613986 |
Arima Syndrome |
|
Hepatic fibrosis, Cirrhosis, Hepatic steatosis, Growth delay, Hepatomegaly, Polydipsia |
OMIM:243910 |
Teratoma, Pineal |
|
Polydipsia |
OMIM:273120 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita... |
ORPHA:276152 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Type II diabetes mellitus, Abdominal obesity, Truncal obesity |
OMIM:615812 |
Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Cirrhosis, Insulin resistance, Hepatic steatosis, Acute pancreatitis, Polycysti... |
ORPHA:79086 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Gray matter heterotopia, Hydrocephalus, Type II lissencephaly, Occipital encephalocele, Agenesis ... |
ORPHA:370959 |
Renal Hypoplasia |
|
Small for gestational age, Polydipsia |
ORPHA:93101 |
Oligomeganephronia |
|
Small for gestational age, Congenital diaphragmatic hernia, Polydipsia |
ORPHA:2260 |
Pyruvate Carboxylase Deficiency |
|
Failure to thrive, Hypoglycemia, Growth delay, Hepatomegaly, Hyperglycemia |
ORPHA:3008 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Hepatic necrosis, Neonatal hypoglycemia, Hyperinsulinemic hypoglycemia,... |
ORPHA:71212 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Gray matter heterotopia, Pachygyria |
ORPHA:370980 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hyperinsulinemia, Cirrhosis, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me... |
OMIM:608594 |
Desmosterolosis |
|
Abnormality of neuronal migration, Abnormal cortical gyration, Macrogyria, Hydrocephalus, Lissenc... |
ORPHA:35107 |
Brain Small Vessel Disease 2 |
|
Subcortical heterotopia, Polymicrogyria |
OMIM:614483 |
Hypomagnesemia 3, Renal |
|
Failure to thrive, Elevated circulating parathyroid hormone level, Polydipsia |
OMIM:248250 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperaldosteronism, Hyperactive renin-angiotensin system, Short stature, Small for gestational ag... |
OMIM:241200 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Agenesis of corpus callosum, Periventricular heterotopia, Pachygyria |
ORPHA:255138 |
Mpi-Cdg |
|
Hypothyroidism, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Failure to thrive, Hepatomegaly,... |
ORPHA:79319 |
Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Enlarged polycystic ovaries, Absence of secondary sex characteristics, Abnormal... |
ORPHA:785 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Abnormality of neuronal migration, Pachygyria |
OMIM:608840 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Microvesicular hepatic steatosis, Periportal fibrosis, Cholangitis, Hepatic steatosis, Failure to... |
OMIM:124000 |
Dysplastic Cortical Hyperostosis |
|
Abnormality of neuronal migration |
ORPHA:2204 |
Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Brain-Lung-Thyroid Syndrome |
|
Hyperactivity, Thyroid hemiagenesis, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:209905 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Exencephaly, Encephalocele, Abnormality of neuronal migration, Abnormal cortical gyration, Macrog... |
ORPHA:2211 |
Distal Renal Tubular Acidosis |
|
Failure to thrive, Short stature, Growth delay, Polydipsia |
ORPHA:18 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hyperinsulinemia, Cirrhosis, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me... |
OMIM:269700 |
Senior-Loken Syndrome 3 |
|
Polydipsia |
OMIM:606995 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Abnormality of neuronal migration, Hydrocephalus, Pachygyria, Agenesis of corpus callosum, Polymi... |
ORPHA:157 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hypothyroidism, Hepatic fibrosis, Short stature, Achilles tendon contracture, Hepatic steatosis, ... |
OMIM:616263 |
Periventricular Nodular Heterotopia 1 |
|
Gray matter heterotopia, Abnormality of neuronal migration |
OMIM:300049 |
Thanatophoric Dysplasia |
|
Gray matter heterotopia, Hydrocephalus |
ORPHA:2655 |
Ventriculomegaly With Cystic Kidney Disease |
|
Gray matter heterotopia, Hydrocephalus |
OMIM:219730 |
Pseudo-Torch Syndrome 2 |
|
Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria |
OMIM:617397 |
Alstrom Syndrome |
|
Hypothyroidism, Hyperinsulinemia, Diabetes insipidus, Decreased response to growth hormone stimul... |
OMIM:203800 |
Dend Syndrome |
|
Hyperglycemia |
ORPHA:79134 |
Scorpion Envenomation |
|
Hyperhidrosis, Glycosuria, Acute pancreatitis, Hyperglycemia, Restlessness |
ORPHA:466677 |
Joubert Syndrome |
|
Hydrocephalus, Encephalocele, Abnormality of neuronal migration, Polymicrogyria |
ORPHA:475 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Failure to thrive, Hyperaldosteronism, Polydipsia |
OMIM:602522 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Flexion contracture, Insulin resistance, Hepatic steatosis, Failure to thrive, ... |
OMIM:613327 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Periventricular heterotopia, Lateral ventricle dilatation |
OMIM:614105 |
Holoprosencephaly 14 |
|
Gray matter heterotopia, Periventricular heterotopia, Aqueductal stenosis, Hydrocephalus, Alobar ... |
OMIM:619895 |
Neurocutaneous Melanocytosis |
|
Meningocele, Abnormality of neuronal migration |
ORPHA:2481 |
Thyrotoxic Periodic Paralysis |
|
Hyperhidrosis, Thyrotoxicosis with toxic single thyroid nodule, Hyperthyroidism, Thyrotoxicosis w... |
ORPHA:79102 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Patent ductus arteriosus, Hypothyroidism, Decreased response to growth hormone stimulation test, ... |
ORPHA:444077 |
16P13.11 Microdeletion Syndrome |
|
Holoprosencephaly, Abnormality of neuronal migration, Agenesis of corpus callosum |
ORPHA:261236 |
Periventricular Nodular Heterotopia 7 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria |
OMIM:617201 |
Joubert Syndrome With Oculorenal Defect |
|
Hydrocephalus, Encephalocele, Abnormality of neuronal migration |
ORPHA:2318 |
Galloway-Mowat Syndrome |
|
Aqueductal stenosis, Abnormality of neuronal migration, Pachygyria |
ORPHA:2065 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Microvesicular hepatic steatosis, Small for gestational age, Failure to thrive, Hypoglycemia, Ing... |
OMIM:220111 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2772 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Simplified gyral pattern, Periventricular heterotopia |
OMIM:618273 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Hydrocephalus, Periventricular heterotopia, Colpocephaly |
OMIM:619833 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormality of neuronal migration, Hydrocephalus, Pachygyria, Agenesis of corpus callosum, Polymi... |
ORPHA:228308 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Cirrhosis, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Failure to thrive, Hepatomegaly |
OMIM:602579 |
Vici Syndrome |
|
Gray matter heterotopia, Agenesis of corpus callosum |
ORPHA:1493 |
Hypomelanosis Of Ito |
|
Gray matter heterotopia |
OMIM:300337 |
Senior-Loken Syndrome 1 |
|
Polydipsia |
OMIM:266900 |
Congenital Disorder Of Deglycosylation 2 |
|
Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria |
OMIM:619775 |
Tetrasomy 18P |
|
Abnormality of neuronal migration |
ORPHA:3307 |
Prader-Willi Syndrome |
|
Failure to thrive in infancy, Hyperinsulinemia, Precocious puberty, Decreased response to growth ... |
OMIM:176270 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Gray matter heterotopia |
OMIM:619694 |
Neu-Laxova Syndrome |
|
Abnormality of neuronal migration, Abnormal cortical gyration, Spina bifida, Macrogyria, Lissence... |
ORPHA:2671 |
Thanatophoric Dysplasia, Type I |
|
Gray matter heterotopia, Hydrocephalus |
OMIM:187600 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of neuronal migration |
ORPHA:44 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Gray matter heterotopia |
OMIM:617008 |
3C Syndrome |
|
Hydrocephalus, Abnormality of neuronal migration |
ORPHA:7 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hydrocephalus, Periventricular heterotopia, Agenesis of corpus callosum |
OMIM:618476 |
Alkuraya-Kucinskas Syndrome |
|
Gray matter heterotopia, Hydrocephalus, Lissencephaly |
OMIM:617822 |
Radio-Tartaglia Syndrome |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:619312 |
Thanatophoric Dysplasia Type 1 |
|
Gray matter heterotopia, Hydrocephalus |
ORPHA:1860 |
Poretti-Boltshauser Syndrome |
|
Gray matter heterotopia |
OMIM:615960 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Abnormality of neuronal migration |
OMIM:300957 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Abnormality of neuronal migration, Agenesis of corpus callosum, Polymicrogyria |
OMIM:608836 |
Joubert Syndrome 30 |
|
Gray matter heterotopia |
OMIM:617622 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Periventricular heterotopia |
OMIM:618974 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Gray matter heterotopia, Anencephaly, Hydrocephalus, Communicating hydrocephalus, Type II lissenc... |
OMIM:615287 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Periventricular heterotopia, Agenesis of corpus callosum |
OMIM:618929 |
6Q Terminal Deletion Syndrome |
|
Gray matter heterotopia, Periventricular heterotopia, Abnormality of neuronal migration, Polymicr... |
ORPHA:75857 |
Woodhouse-Sakati Syndrome |
|
Hypothyroidism, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Decrease... |
ORPHA:3464 |
Cerebrofacioarticular Syndrome |
|
Gray matter heterotopia, Dysplastic corpus callosum, Agenesis of corpus callosum |
ORPHA:314679 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Hydrocephalus, Abnormality of neuronal migration |
ORPHA:1454 |
Fragile X Syndrome |
|
Periventricular heterotopia |
OMIM:300624 |
Acromelic Frontonasal Dysostosis |
|
Gray matter heterotopia, Encephalocele, Periventricular nodular heterotopia, Agenesis of corpus c... |
OMIM:603671 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Gray matter heterotopia, Polymicrogyria, Holoprosencephaly, Dysplastic corpus callosum, Agenesis ... |
OMIM:618820 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormal neuron morphology, Abnormality of neuronal migration |
ORPHA:163681 |
16Q24.3 Microdeletion Syndrome |
|
Periventricular heterotopia, Colpocephaly |
ORPHA:261250 |
Aicardi Syndrome |
|
Gray matter heterotopia, Lateral ventricle dilatation, Spina bifida, Partial agenesis of the corp... |
OMIM:304050 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Lobar holoprosencephaly, Pa... |
ORPHA:468631 |
Neuromuscular Oculoauditory Syndrome |
|
Periventricular heterotopia, Agenesis of corpus callosum |
OMIM:618733 |
Bohring-Opitz Syndrome |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:605039 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2518 |
Van Maldergem Syndrome 1 |
|
Gray matter heterotopia, Simplified gyral pattern, Periventricular nodular heterotopia, Subcortic... |
OMIM:601390 |
Periventricular Nodular Heterotopia |
|
Periventricular heterotopia |
ORPHA:98892 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2063 |
Mismatch Repair Cancer Syndrome 1 |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:276300 |
Man1B1-Cdg |
|
Periventricular heterotopia |
ORPHA:397941 |
Opitz-Kaveggia Syndrome |
|
Partial agenesis of the corpus callosum, Gray matter heterotopia, Hydrocephalus |
OMIM:305450 |
Orofaciodigital Syndrome I |
|
Gray matter heterotopia, Myelomeningocele, Abnormal cortical gyration, Hydrocephalus, Agenesis of... |
OMIM:311200 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Biliary cirrhosis, Hepatic steatosis, Increased circulating gonadotropin level, Glucose intoleran... |
ORPHA:99413 |
Turner Syndrome |
|
Biliary cirrhosis, Hepatic steatosis, Increased circulating gonadotropin level, Glucose intoleran... |
ORPHA:881 |
Mosaic Monosomy X |
|
Biliary cirrhosis, Hepatic steatosis, Increased circulating gonadotropin level, Glucose intoleran... |
ORPHA:99228 |
Monosomy X |
|
Biliary cirrhosis, Hepatic steatosis, Increased circulating gonadotropin level, Glucose intoleran... |
ORPHA:99226 |
Holoprosencephaly |
|
Spinal dysraphism, Encephalocele, Abnormality of neuronal migration, Hydrocephalus, Holoprosencep... |
ORPHA:2162 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Holoprosencephaly, Abnormality of neuronal migration |
ORPHA:3186 |
Coffin-Lowry Syndrome |
|
Abnormality of neuronal migration |
ORPHA:192 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemia |
ORPHA:230 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Gray matter heterotopia, Polymicrogyria |
OMIM:614887 |
9Q21.13 Microdeletion Syndrome |
|
Gray matter heterotopia |
ORPHA:531151 |
Pagod Syndrome |
|
Meningocele, Encephalocele, Abnormality of neuronal migration, Spina bifida |
ORPHA:991 |
Alg11-Cdg |
|
Gray matter heterotopia |
ORPHA:280071 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Gray matter heterotopia |
OMIM:618797 |
Hydrolethalus Syndrome 1 |
|
Gray matter heterotopia, Abnormal cortical gyration, Arrhinencephaly, Anencephaly, Severe hydroce... |
OMIM:236680 |
Miller-Dieker Lissencephaly Syndrome |
|
Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria |
OMIM:247200 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Gray matter heterotopia, Colpocephaly, Abnormal cortical gyration, Lateral ventricle dilatation, ... |
OMIM:210710 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Periventricular heterotopia |
OMIM:618870 |
Van Maldergem Syndrome 2 |
|
Gray matter heterotopia, Subcortical band heterotopia, Periventricular nodular heterotopia |
OMIM:615546 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Gray matter heterotopia |
OMIM:608624 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gray matter heterotopia |
ORPHA:26791 |
Orofaciodigital Syndrome Xvi |
|
Gray matter heterotopia |
OMIM:617563 |
Liver Disease, Severe Congenital |
|
Peritonitis, Portal inflammation, Hyperinsulinemic hypoglycemia, Hepatic steatosis, Hepatomegaly,... |
OMIM:619991 |
Vici Syndrome |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:242840 |
Orofaciodigital Syndrome Xiv |
|
Periventricular heterotopia, Simplified gyral pattern, Holoprosencephaly, Partial agenesis of the... |
OMIM:615948 |
Steinert Myotonic Dystrophy |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Abnormality of thyroid p... |
ORPHA:273 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Gray matter heterotopia, Polymicrogyria |
OMIM:214100 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Gray matter heterotopia, Frontal polymicrogyria, Pachygyria |
OMIM:620024 |
Orofaciodigital Syndrome Type 6 |
|
Abnormality of neuronal migration |
ORPHA:2754 |
Koolen-De Vries Syndrome |
|
Gray matter heterotopia |
OMIM:610443 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Gray matter heterotopia, Agenesis of corpus callosum |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Gray matter heterotopia, Agenesis of corpus callosum |
ORPHA:352665 |
Bilateral Perisylvian Polymicrogyria |
|
Bilateral perisylvian polymicrogyria, Abnormality of neuronal migration, Perisylvian predominant ... |
ORPHA:98889 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Gray matter heterotopia |
ORPHA:453499 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Abnormality of neuronal migration |
ORPHA:464311 |
Smith-Lemli-Opitz Syndrome |
|
Periventricular heterotopia, Hydrocephalus, Holoprosencephaly, Partial agenesis of the corpus cal... |
OMIM:270400 |
Periventricular Nodular Heterotopia 9 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria |
OMIM:618918 |
Alström Syndrome |
|
Hepatosplenomegaly, Hepatic steatosis, Dorsocervical fat pad, Decreased circulating T4 concentrat... |
ORPHA:64 |
Fontaine Progeroid Syndrome |
|
Gray matter heterotopia, Hydrocephalus, Periventricular heterotopia |
OMIM:612289 |
Nijmegen Breakage Syndrome |
|
Abnormality of neuronal migration |
ORPHA:647 |
Genitopatellar Syndrome |
|
Agenesis of corpus callosum, Periventricular heterotopia, Pachygyria, Colpocephaly |
OMIM:606170 |
Orofaciodigital Syndrome Type 14 |
|
Partial agenesis of the corpus callosum, Periventricular heterotopia |
ORPHA:434179 |
Pmm2-Cdg |
|
Hyperinsulinemia, Hepatic fibrosis, Elevated circulating thyroid-stimulating hormone concentratio... |
ORPHA:79318 |
Proteus Syndrome |
|
Gray matter heterotopia |
ORPHA:744 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Agenesis of corpus callosum, Periventricular heterotopia, Lateral ventricle dilatation, Polymicro... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Agenesis of corpus callosum, Periventricular heterotopia, Lateral ventricle dilatation, Polymicro... |
ORPHA:261552 |
Mowat-Wilson Syndrome |
|
Periventricular heterotopia, Agenesis of corpus callosum, Polymicrogyria |
ORPHA:2152 |