| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Scoliosis, Hyperactivity |
OMIM:616311 |
| Biliary Atresia, Extrahepatic |
|
Elevated circulating hepatic transaminase concentration, Portal fibrosis, Increased total bilirub... |
OMIM:210500 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... |
ORPHA:65682 |
| Gallbladder Disease 1 |
|
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... |
OMIM:600803 |
| Protoporphyria, Erythropoietic, X-Linked |
|
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Increased erythrocyte pr... |
OMIM:300752 |
| Hyperbiliverdinemia |
|
Cholestasis, Cholelithiasis, Decreased liver function, Elevated circulating biliverdin concentration |
OMIM:614156 |
| Gcgr-Related Hyperglucagonemia |
|
Cholelithiasis, Glucagonoma, Abnormal biliary tract morphology, Neoplasm of the pancreas, Increas... |
ORPHA:438274 |
| Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Splenomegaly, Irritability, Hypogonadotropic hypogonadism, Hepatomegal... |
ORPHA:848 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Intrahepatic cholestasis, Cholelithiasis, Hepatomegaly, Jaundice, Conjugated hyperbilirubinemia |
OMIM:605479 |
| Myotonic Dystrophy 1 |
|
Cholelithiasis, Hypogonadism, Obsessive-compulsive trait, Testicular atrophy, Dysphagia |
OMIM:160900 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Low Phospholipid-Associated Cholelithiasis |
|
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... |
ORPHA:69663 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear-induced behavior, Kyphoscoliosis, Irritability, Aggressive behavior, Hyperactivity,... |
ORPHA:3077 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Depression, Elevated circulating... |
ORPHA:79095 |
| Primary Basilar Invagination |
|
Abnormal vertebral morphology, Abnormality of the cervical spine, Short neck |
ORPHA:2285 |
| Sialuria |
|
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Atte... |
ORPHA:3166 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Cholelithiasis, Splenomegaly |
OMIM:224100 |
| Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
| Gaucher Disease Type 1 |
|
Elevated circulating CCL18 level, Splenic infarction, Cholelithiasis, Depression, Hepatic failure... |
ORPHA:77259 |
| Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Cirrhosis, Abnormal circulating porphyrin concentration, Decreased liver function |
ORPHA:79278 |
| Coffin-Siris Syndrome 8 |
|
Self-injurious behavior, Cryptorchidism, Aggressive behavior, Hyperactivity, Scoliosis |
OMIM:618362 |
| Caroli Disease |
|
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... |
ORPHA:53035 |
| Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hepatic failure, Hypertriglyceridemia |
OMIM:177000 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Increased serum serotonin, Kyphosis, Hyperactivity |
ORPHA:85288 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... |
OMIM:211600 |
| Pandas |
|
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... |
ORPHA:66624 |
| Mirizzi Syndrome |
|
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Anorexia, Hyperbilirubin... |
ORPHA:521219 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Cholecystitis, Reduced haptoglobin level, Splenomegaly, Jaundice, Hepatomegaly, U... |
OMIM:266200 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Phonic tics, Kyphoscoliosis, Aggressive behavior, Hyperactivity, Compulsive behaviors |
OMIM:301107 |
| Glycogen Storage Disease Xii |
|
Cholelithiasis, Hyperbilirubinemia, Cholecystitis, Reduced haptoglobin level, Elevated circulatin... |
OMIM:611881 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility, Dysphagia, Elevated circulating creatine kinase concentr... |
OMIM:313200 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Jaundice |
OMIM:235700 |
| Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, Jaundice |
OMIM:613470 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Bruxism, Scoliosis, Hyperactivity |
OMIM:300434 |
| Fraxe Intellectual Disability |
|
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... |
ORPHA:100973 |
| 8p23.1 deletion syndrome |
|
Cryptorchidism, Hyperactivity |
DECIPHER:39 |
| Hypogonadism, Male |
|
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy |
OMIM:241100 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Precocious puberty, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Attention deficit hype... |
ORPHA:96092 |
| Glycogen Storage Disease Vii |
|
Cholelithiasis, Increased total bilirubin, Hyperuricemia, Elevated circulating creatine kinase co... |
OMIM:232800 |
| Spherocytosis, Type 1 |
|
Jaundice, Cholelithiasis, Hyperbilirubinemia, Splenomegaly |
OMIM:182900 |
| Beta-Thalassemia Intermedia |
|
Cholelithiasis, Decreased liver function, Hypogonadism, Adrenal insufficiency, Hepatosplenomegaly... |
ORPHA:231222 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... |
ORPHA:567983 |
| Fragile X Syndrome |
|
Recurrent hand flapping, Macroorchidism, postpubertal, Hyperactivity, Self-biting, Scoliosis, Con... |
OMIM:300624 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Cholelithiasis, Decreased testicular size, Cryptorchidism, Low frustration tolerance, Aggressive ... |
OMIM:300534 |
| Glycine Encephalopathy 1 |
|
Hyperglycinemia, Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity |
OMIM:605899 |
| Lathosterolosis |
|
Intrahepatic cholestasis, Elevated circulating lathosterol concentration, Hepatic fibrosis, Eleva... |
OMIM:607330 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis, Abnormal circulating aldosterone, Glucocortocoid-insensitive primary hyperaldoste... |
ORPHA:171876 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Hepatomega... |
OMIM:194380 |
| Combined Oxidative Phosphorylation Deficiency 59 |
|
Attention deficit hyperactivity disorder, Cholelithiasis, Hyperalaninemia |
OMIM:620646 |
| Dubin-Johnson Syndrome |
|
Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality |
OMIM:237500 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... |
ORPHA:52901 |
| Ppoma |
|
Intrahepatic cholestasis, Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circ... |
ORPHA:97278 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal fibrosi... |
OMIM:602347 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic... |
ORPHA:209902 |
| Pancreatic Colipase Deficiency |
|
Exocrine pancreatic insufficiency, Cholelithiasis |
ORPHA:309108 |
| Isolated Biliary Atresia |
|
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun... |
ORPHA:30391 |
| Morm Syndrome |
|
Micropenis, Aggressive behavior, Hyperactivity |
ORPHA:75858 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Self-injurious behavior, Depression, Lumbar hyperlordosis, Aggressive behavior, Hyperactivity, Co... |
OMIM:619467 |
| Mitchell-Riley Syndrome |
|
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Ascites, Hyperbilirubinemia, Absent gallbla... |
OMIM:615710 |
| Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Attention deficit hyperactivity disorder, Biliary atresia, Elevated circulating creatine kinase c... |
ORPHA:565899 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hepatic failure, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Abnorma... |
OMIM:614886 |
| Primary Sclerosing Cholangitis |
|
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... |
ORPHA:171 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci... |
OMIM:617394 |
| Hemochromatosis, Type 1 |
|
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... |
OMIM:235200 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity |
OMIM:619031 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... |
OMIM:619662 |
| Kennedy Disease |
|
Abnormal circulating lipid concentration, Type II diabetes mellitus, Decreased fertility, Testicu... |
ORPHA:481 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Male hypogonadism, Cholelithiasis, Type I diabetes mellitus, Adrenal insufficiency, Primary adren... |
OMIM:240300 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
| Grfoma |
|
Increased circulating cortisol level, Increased circulating prolactin concentration, Elevated cir... |
ORPHA:97261 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis |
ORPHA:208441 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Aggressive behavior, Motor stereotypy, Hyperactivity, Kyphoscoliosis |
OMIM:615541 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Precocious puberty, Aggressive behavior, Scoliosis, Hyperactivity |
ORPHA:457260 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Depression, Cryptorchidism, Aggressive behavior, Hyperactivity, Compulsi... |
ORPHA:485350 |
| Martinez-Frias Syndrome |
|
Annular pancreas, Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Hypoplasia of the gal... |
OMIM:601346 |
| Triosephosphate Isomerase Deficiency |
|
Cholelithiasis, Cholecystitis, Splenomegaly, Prolonged neonatal jaundice, Jaundice, Kyphosis |
OMIM:615512 |
| Ck Syndrome |
|
Irritability, Aggressive behavior, Hyperlordosis, Hyperactivity, Scoliosis, Kyphosis |
OMIM:300831 |
| Phenylketonuria |
|
Depression, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hyperactivity d... |
OMIM:261600 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hypogonadism, Decreased testicular size, Cryptorchidism, Emotional lability, Aggressive behavior,... |
OMIM:300354 |
| Nephronophthisis 19 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... |
OMIM:616217 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
| Metachromatic Leukodystrophy |
|
Addictive behavior, Emotional lability, Abnormal gallbladder morphology, Hemobilia, Neoplasm of t... |
ORPHA:512 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... |
OMIM:613812 |
| Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Neonatal hyperbilirubinemia, Increased total bilirubin, Increased circulating fer... |
ORPHA:3202 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Precocious puberty, Cholelithiasis, Hepatosplenomegaly, Cholecystitis, Aggressive behavior, Hyper... |
OMIM:301066 |
| Cimdag Syndrome |
|
Hypogonadism, Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis |
OMIM:619273 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... |
ORPHA:79302 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Attention deficit hyperactivity disorder, Hypothyroidism, Motor tics, Hyperactivity, Compulsive b... |
OMIM:619927 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Cholelithiasis, Male urethral meatus stenosis, Aggressive behavior, Scoliosis, Kyphosis |
ORPHA:464738 |
| Graves Disease |
|
Graves disease, Abnormal abdomen morphology, Goiter, Increased circulating free T3, Irritability,... |
OMIM:275000 |
| Porphyria, Congenital Erythropoietic |
|
Cholelithiasis, Elevated circulating uroporphyrin concentration, Splenomegaly, Hepatomegaly, Jaun... |
OMIM:263700 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... |
OMIM:620141 |
| Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Priapism, Splenomegaly, Cardiomegaly, Hepatomegaly, Jaundice |
OMIM:603903 |
| Meckel Syndrome, Type 6 |
|
Hepatic fibrosis, Absent gallbladder, Hepatic cysts, Abnormal internal genitalia, Bile duct proli... |
OMIM:612284 |
| Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Cardiomegaly, Aggressive behavior, Ovoid thoracolumbar vertebrae, Hyperactivity, He... |
OMIM:252920 |
| Genitopalatocardiac Syndrome |
|
Hypospadias, Abnormal mesentery morphology, Abnormality of the gallbladder, Cryptorchidism, Male ... |
ORPHA:2075 |
| Distal Duplication 5Q |
|
Aplasia/Hypoplasia of the gallbladder, Hypospadias, Cryptorchidism |
ORPHA:96097 |
| Citrullinemia Type Ii |
|
Abnormal eating behavior, Hepatic steatosis, Hepatomegaly, Restlessness, Mania, Hypoproteinemia, ... |
ORPHA:247585 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Aggressive behavior, Decreased serum insulin-like growth factor 1, Elevated circulating growth ho... |
ORPHA:85327 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Kyphoscoliosis, Irritability, Aggressive behavior, Motor stereotypy, Hyperactivity, Premature ova... |
ORPHA:391307 |
| Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Spinal canal stenosis, Congenital hypothyroidism, Cryptorchidism, Hyperactivity, Hypospadias, Dia... |
OMIM:614613 |
| Congenital Alveolar Capillary Dysplasia |
|
Abnormal vertebral morphology, Asplenia, Absent gallbladder, Annular pancreas |
ORPHA:210122 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Elevated circulating creatine kinase concentration |
OMIM:618775 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Azoospermia, Male infertility |
ORPHA:276183 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism, Hyperactivity, Impulsivity |
OMIM:300143 |
| Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Cervical spine hypermobility, Hypoplasia of the o... |
OMIM:305400 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Abnormality of iron homeostasis, Increased circulating ferritin concentration, Decreased serum te... |
ORPHA:465508 |
| Hereditary Spherocytosis |
|
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Jaundice |
ORPHA:822 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cholelithiasis, Depression, Hepatic failure, Abnormal circulating lipid concentration, Decreased ... |
ORPHA:77293 |
| Steinfeld Syndrome |
|
Abnormal vertebral morphology, Absent gallbladder, Abnormality of the vertebral column |
OMIM:184705 |
| Alpha-Thalassemia |
|
Cholelithiasis, Hepatosplenomegaly, Hypersplenism, Splenomegaly, Jaundice |
ORPHA:846 |
| Pentalogy Of Cantrell |
|
Hypospadias, Scoliosis, Absent gallbladder, Polysplenia |
ORPHA:1335 |
| Mucopolysaccharidosis, Type Iiic |
|
Splenomegaly, Kyphoscoliosis, Ovoid thoracolumbar vertebrae, Beaking of vertebral bodies, Hyperac... |
OMIM:252930 |
| 47,Xyy Syndrome |
|
Varicocele, Azoospermia, Cryptorchidism, Impulsivity, Attention deficit hyperactivity disorder, M... |
ORPHA:8 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Bilateral cryptorchidism, Lumbar hyperlordosis, Obsessive-compulsive trait, Cryptorchidism, Irrit... |
OMIM:617796 |
| Hereditary Elliptocytosis |
|
Cholelithiasis, Neonatal hyperbilirubinemia, Hyperbilirubinemia, Splenomegaly, Prolonged neonatal... |
ORPHA:288 |
| Trichohepatoneurodevelopmental Syndrome |
|
Cholelithiasis, Decreased liver function, Exocrine pancreatic insufficiency, Splenomegaly, Increa... |
OMIM:618268 |
| Mucopolysaccharidosis, Type Iiia |
|
Splenomegaly, Ovoid thoracolumbar vertebrae, Hyperactivity, Hepatomegaly, Scoliosis |
OMIM:252900 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Pituitary adenoma, Abnormal fear-induced behavior, Increased circulating ACTH level, Emotional la... |
OMIM:219090 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Aggressive behavior, Hyperactivity, Dysphagia, Kyphosis, Impulsivity |
ORPHA:500180 |
| 2Q23.1 Microdeletion Syndrome |
|
Self-injurious behavior, Cryptorchidism, Polyphagia, Paroxysmal bursts of laughter, Hyperactivity... |
ORPHA:228402 |
| Cystic Echinococcosis |
|
Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Elevated circulati... |
ORPHA:400 |
| Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Depression, Abnormality of the vertebral spinous processes, Aggressive behavior, ... |
ORPHA:909 |
| Nphp3-Related Meckel-Like Syndrome |
|
Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal biliary tract morphology |
ORPHA:3032 |
| Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Self-injurious behavior, Aggressive behavior, Scoliosis, Hyperactivity |
OMIM:620023 |
| Sickle Cell Anemia |
|
Splenic infarction, Cholelithiasis, Pigment gallstones, Priapism, Elevated circulating creatinine... |
ORPHA:232 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Precocious puberty, Aggressive behavior, Scoliosis, Hyperactivity |
OMIM:300958 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Precocious puberty, Gonadal dysgenesis, Hypogonadism, Cryptorchidism, Aggressive behavior, Hypera... |
ORPHA:3306 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent hand flapping, Irritabil... |
ORPHA:449291 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Hypothalami... |
OMIM:308700 |
| Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Abnormal circulating cholesterol concentration, Pseudobulbar paralysis |
OMIM:213700 |
| Glycogen Storage Disease Ixc |
|
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... |
OMIM:613027 |
| Stankiewicz-Isidor Syndrome |
|
Cryptorchidism, Pineal cyst, Hyperactivity, Shawl scrotum, Micropenis, Hypospadias, Sacral dimple |
OMIM:617516 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... |
OMIM:308750 |
| Lamb-Shaffer Syndrome |
|
Abnormal temper tantrums, Thoracic kyphosis, Motor stereotypy, Hyperactivity, Scoliosis, Fused ce... |
ORPHA:530983 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Pancreatic hypoplasia, Cryptorchidism, Biliary hyperplasia, Hepatomegaly, Micrope... |
ORPHA:83617 |
| Steinert Myotonic Dystrophy |
|
Oral-pharyngeal dysphagia, Hyperinsulinemia, Decreased fertility, Obsessive-compulsive trait, Emo... |
ORPHA:273 |
| Triploidy |
|
Abnormality of the gallbladder, Cryptorchidism, Short neck, Ambiguous genitalia, Hepatomegaly, Hy... |
ORPHA:3376 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Hypoamylasemia, Absent gallbladder, Reduced C-pepti... |
ORPHA:556955 |
| 13Q12.3 Microdeletion Syndrome |
|
Kyphoscoliosis, Cryptorchidism, Self-mutilation, Hyperactivity |
ORPHA:412035 |
| Vacterl/Vater Association |
|
Bifid scrotum, Abnormal morphology of female internal genitalia, Abnormality of the gallbladder, ... |
ORPHA:887 |
| 19P13.12 Microdeletion Syndrome |
|
Precocious puberty, Self-injurious behavior, Hyperlipidemia, Cryptorchidism, Hepatic steatosis, S... |
ORPHA:254346 |
| Digeorge Syndrome |
|
Cholelithiasis, Scoliosis, Parathyroid hypoplasia, Intervertebral disk degeneration, Ovarian cyst... |
OMIM:188400 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Thoracolumbar kyphosis, Abnormal temper tantrums, Cholelithiasis, Hepatic fibrosis, Abnormality o... |
ORPHA:2072 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... |
ORPHA:90791 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... |
OMIM:619849 |
| Trisomy 8P |
|
Annular pancreas, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Short neck, Micropenis, ... |
ORPHA:264450 |
| Fucosidosis |
|
Abnormality of the gallbladder, Cardiomegaly, Hepatomegaly, Hypothyroidism, Anterior beaking of l... |
ORPHA:349 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Recurrent hand flapping, Motor stereotypy, Attention deficit hyperactivity disorder, Hyperactivit... |
OMIM:617600 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| 22Q11.2 Deletion Syndrome |
|
Cholelithiasis, Depression, Abnormality of the uterus, Cryptorchidism, Hypocalcemia, Splenomegaly... |
ORPHA:567 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... |
OMIM:607626 |
| Argininemia |
|
Portal fibrosis, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Hyperargininemia, Irritabil... |
OMIM:207800 |
| Meckel Syndrome, Type 3 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation, Hepatomegaly |
OMIM:607361 |
| Trisomy 10P |
|
Rectovaginal fistula, Absent gallbladder, Dysphagia, Hemivertebrae |
ORPHA:171929 |
| Gaucher Disease |
|
Splenic infarction, Cholelithiasis, Depression, Hepatic failure, Hepatitis, Increased circulating... |
ORPHA:355 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Small scrotum, Microphallus, Cryptorchidism, Self-mutilation, Low frustration tolerance, Hyperact... |
OMIM:300486 |
| Craniofacioskeletal Syndrome |
|
Hypospadias, Absent gallbladder, Cryptorchidism, Hypocalcemia |
OMIM:300712 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Precocious puberty, Abnormal temper tantrums, Low frustration tolerance, Self-mutilation, Stereot... |
ORPHA:163681 |
| Williams Syndrome |
|
Type II diabetes mellitus, Cryptorchidism, Overfriendliness, Polycystic ovaries, Precocious puber... |
ORPHA:904 |
| Ring Chromosome 13 Syndrome |
|
Bifid scrotum, Primary hypothyroidism, Short neck, Ambiguous genitalia, Urogenital sinus anomaly,... |
ORPHA:96176 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperbilirubinemia, Absent gallbladder, Cryptorchidism, Hypocalcemia, Micropenis, Hypospadias |
ORPHA:163979 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Vertebral segmentation defect |
ORPHA:3186 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Uterus didelphys, Septate vagina, Absent gallbladder, Short neck, Micropenis |
OMIM:617925 |
| Tetrasomy 9P |
|
Inappropriate behavior, Absent gallbladder, Cryptorchidism, Biliary atresia, Short neck, Jaundice... |
ORPHA:3310 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Hypogonadism, Decreased testicular size, Aggressive behavior, Short neck, Hyperactivity, Hypoplas... |
ORPHA:85293 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... |
OMIM:208540 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, C... |
ORPHA:79303 |
| Hyperthyroidism, Nonautoimmune |
|
Thyroid hyperplasia, Goiter, Increased circulating free T3, Increased circulating T4 concentratio... |
OMIM:609152 |
| Joubert Syndrome 6 |
|
Hepatic fibrosis, Motor stereotypy, Bile duct proliferation |
OMIM:610688 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Depression, Abnormal fear-induced behavior, Abnormal circulating porphyrin concentration, Hyponat... |
ORPHA:100924 |
| Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Neuroendocrine neoplasm, Ascites, Cholecystitis, Intermittent jaundice, B... |
ORPHA:100086 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Cholestasis, ... |
ORPHA:562639 |
| Caroli Syndrome |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
ORPHA:480520 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Cirrhosis |
OMIM:613987 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Hardikar Syndrome |
|
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Hypersplenism, Impaired... |
OMIM:301068 |
| Wolfram Syndrome 1 |
|
Hypothyroidism, Dysphagia, Testicular atrophy, Diabetes insipidus, Diabetes mellitus |
OMIM:222300 |
| Alkaptonuria |
|
Black pigment gallstones, Prostatitis, Hypothyroidism, Intervertebral disk calcification, Scolios... |
ORPHA:56 |
| Lesch-Nyhan Syndrome |
|
Testicular atrophy, Self-injurious behavior, Dysphagia, Hyperuricemia |
OMIM:300322 |
| Bohring-Opitz Syndrome |
|
Cardiomegaly, Cholelithiasis, Annular pancreas |
ORPHA:97297 |
| Zttk Syndrome |
|
Scoliosis, Absent gallbladder, Kyphosis, Hemivertebrae |
OMIM:617140 |
| Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Type I diabetes mellitus, Exocrine pancreatic insufficiency, Absent gallbladder, Elevated circula... |
OMIM:618500 |
| Meckel Syndrome, Type 7 |
|
Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Portal hypertension, Right ventricular hypert... |
OMIM:267010 |
| Ketamine-Induced Biliary Dilatation |
|
Abnormal biliary tract morphology |
ORPHA:293807 |
| Familial Gestational Hyperthyroidism |
|
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperthyroid... |
ORPHA:99819 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Depression, Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Dysphagia, S... |
OMIM:157640 |
| Sacral Agenesis With Vertebral Anomalies |
|
Abnormal vertebral morphology, Absence of the sacrum, Persistent cloaca, Vertebral clefting |
OMIM:615709 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hepatic fibrosis, Periportal fibrosis, Polydipsia, Cholestasis, Ascites, Hepatosplenomegaly, Hype... |
ORPHA:731 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Increased serum serotonin, Elevated circulating hepatic transaminase concentration, Neuroendocrin... |
ORPHA:100085 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Anterior pituitary agenesis, Pancreatic hypoplasia,... |
ORPHA:2255 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperthyroid... |
ORPHA:424 |
| Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
| Peters-Plus Syndrome |
|
Cryptorchidism, Biliary tract abnormality, Hypoplastic labia majora, Hypoplasia of the vagina, Sh... |
OMIM:261540 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased liver functio... |
OMIM:618329 |
| Chromosome 15Q25 Deletion Syndrome |
|
Polysplenia, Cryptorchidism, Short neck, Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:614294 |
| Peutz-Jeghers Syndrome |
|
Biliary tract neoplasm, Pancreatic adenocarcinoma, Abnormality of the gallbladder, Enlarged polyc... |
ORPHA:2869 |
| Meckel Syndrome, Type 5 |
|
Bile duct proliferation |
OMIM:611561 |
| Primary Biliary Cholangitis |
|
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul... |
ORPHA:186 |
| Metachromatic Leukodystrophy, Adult Form |
|
Depression, Neoplasm of the gallbladder, Emotional lability, Cholecystitis |
ORPHA:309271 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Lumbar hyperlordosis, Absent gallbladder, Kyphoscoliosis, Hemivertebrae, Dysphagia |
ORPHA:500150 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Small scrotum, Elevated circulating hepatic transaminase concentration, Decrease... |
OMIM:613658 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,... |
OMIM:203700 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior |
ORPHA:309246 |
| Liver Disease, Severe Congenital |
|
Portal inflammation, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepatic echogenicity, Hepato... |
OMIM:619991 |
| Neurofibroma |
|
Abnormal biliary tract morphology, Enlargement of parotid gland, Kyphoscoliosis, Spinal canal ste... |
ORPHA:252183 |
| Hereditary Hemorrhagic Telangiectasia |
|
Cholelithiasis, Hepatic failure, Portal hypertension, Cholecystitis, Hepatic arteriovenous malfor... |
ORPHA:774 |
| Meckel Syndrome, Type 2 |
|
Bile duct proliferation |
OMIM:603194 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Biliary atresia, Absent gallbladder, Pancreatic hypoplasia, Diabetes mellitus |
OMIM:600001 |
| D-Bifunctional Protein Deficiency |
|
Fetal ascites, Elevated circulating hepatic transaminase concentration, Cholestasis, Primary adre... |
OMIM:261515 |
| Wolf-Hirschhorn Syndrome |
|
Abnormal vertebral morphology, Abnormality of the vertebral column, Abnormal form of the vertebra... |
ORPHA:280 |
| Smith-Lemli-Opitz Syndrome |
|
Self-injurious behavior, Clitoral hypertrophy, Abnormal form of the vertebral bodies, Abnormality... |
ORPHA:818 |
| X-Linked Intellectual Disability, Snyder Type |
|
Abnormality of the Leydig cells, Cryptorchidism, Kyphoscoliosis, Testicular atrophy, Hypospadias,... |
ORPHA:3063 |
| Cranioectodermal Dysplasia 2 |
|
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Poly... |
OMIM:613610 |
| Myhre Syndrome |
|
Platyspondyly, Enlarged vertebral pedicles, Cryptorchidism, Short neck, Vertebral fusion |
OMIM:139210 |
| Meckel Syndrome, Type 4 |
|
Bile duct proliferation |
OMIM:611134 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Self-injurious behavior, Abnormal fear-induced behavior, Cryptorchidism, Emotional lability, Aggr... |
ORPHA:353281 |
| Meckel Syndrome, Type 1 |
|
Malformation of the hepatic ductal plate, Elevated amniotic fluid alpha-fetoprotein, Accessory sp... |
OMIM:249000 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hepatic fibrosis, Pancreatic fibrosis, Jaundice, Polycystic liver disease, Pancreatic cysts, Conj... |
OMIM:208500 |
| Familial Adenomatous Polyposis |
|
Neoplasm of the gallbladder, Pituitary adenoma, Goiter, Pancreatic adenocarcinoma, Abnormality of... |
ORPHA:733 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Depression, Abnormal circulating biopterin concentration, Abnormal circulating neopterin concentr... |
OMIM:612716 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Increased hepa... |
OMIM:619525 |
| Osteogenesis Imperfecta |
|
Cervical kyphosis, Abnormal form of the vertebral bodies, Enlarged vertebral pedicles, Biconcave ... |
ORPHA:666 |
| Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Self-injurious behavior, Abnormal fear-induced behavior, Cryptorchidism, Emotional lability, Aggr... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Self-injurious behavior, Abnormal fear-induced behavior, Cryptorchidism, Emotional lability, Aggr... |
ORPHA:353277 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Cholestasis, Hyperbilirubinemia, Congenital hepatic fibrosis, Cirrhosis, Elevated circulating ala... |
OMIM:619534 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Type I diabetes mellitus, Hepatitis, Hashimoto thyroiditis, Hypoplasia of the... |
ORPHA:436252 |
