| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Scoliosis |
OMIM:616311 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Anorexia, Jaundice, Cholestatic liver disease, Acholic stools, Cir... |
ORPHA:65682 |
| Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy, Sco... |
OMIM:601382 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Cholester... |
OMIM:600803 |
| Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Cholelithiasis, Increased erythrocyte protoporphyrin concentration |
OMIM:300752 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Focal EEG discharges with secondary generalization, Kyphoscoliosis, Aggressive beh... |
ORPHA:3077 |
| Myotonic Dystrophy 1 |
|
Facial diplegia, Hypogonadism, Dysphagia, Cholelithiasis, Obsessive-compulsive trait, Testicular ... |
OMIM:160900 |
| Hyperbiliverdinemia |
|
Cholelithiasis, Elevated circulating biliverdin concentration, Decreased liver function, Cholestasis |
OMIM:614156 |
| Sialuria |
|
Neuropathic spinal arthropathy, Hepatomegaly, Elevated hepatic transaminase, Hepatosplenomegaly, ... |
ORPHA:3166 |
| Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Hepatitis, Irritability, Abnormality o... |
ORPHA:848 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Cholelithiasis |
OMIM:605479 |
| Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Intrahepatic choles... |
ORPHA:69663 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Elevated circulating creatine kinase concent... |
ORPHA:79095 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Anorexia, Portal hypertension, Conj... |
ORPHA:53035 |
| Coffin-Siris Syndrome 8 |
|
Hyperactivity, Aggressive behavior, Cryptorchidism, Self-injurious behavior, Scoliosis |
OMIM:618362 |
| Autosomal Erythropoietic Protoporphyria |
|
Abnormal circulating porphyrin concentration, Cholelithiasis, Decreased liver function, Cirrhosis |
ORPHA:79278 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Splenomegaly, Cholelithiasis, Jaundice |
OMIM:224100 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, EEG abnormal... |
OMIM:617519 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
EEG abnormality, Hyperactivity, Low-set ears |
ORPHA:436151 |
| Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl... |
OMIM:211600 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... |
ORPHA:100973 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Hyperactivity, Increased serum serotonin |
ORPHA:85288 |
| Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hypertriglyceridemia, Hepatic failure |
OMIM:177000 |
| Glycogen Storage Disease Xii |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Short neck, Splenomegaly, Jaund... |
OMIM:611881 |
| Mirizzi Syndrome |
|
Elevated hepatic transaminase, Anorexia, Pancreatitis, Jaundice, Cholesterol gallstones, Hyperbil... |
ORPHA:521219 |
| Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Diabetes mellitus, Abnormal biliary tract morphology, Cholelithiasis, I... |
ORPHA:438274 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Unconjugated hyperbilirubinemia, Cholelithia... |
OMIM:266200 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Kyphoscoliosis, Aggressive behavior, Phonic tics, Compulsive behaviors |
OMIM:301107 |
| Alpha-Thalassemia |
|
Hypersplenism, Cholelithiasis, Jaundice, Splenomegaly |
ORPHA:846 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy, Elevated circulating creatine kinase concentration, Dysp... |
OMIM:313200 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Fragile X Syndrome |
|
Macroorchidism, postpubertal, Hyperactivity, Macrotia, Self-biting, Scoliosis, Recurrent hand fla... |
OMIM:300624 |
| Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation, Hypsarrhythmia |
OMIM:619970 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Restlessness, Hyperactivity, Aggressive behavior, Cryptorchidism, Protruding ear, Low frustration... |
OMIM:300534 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Impulsivity, Short neck, Precocious puberty, Cryptorchidism, Aplasia/Hypoplasia of the gallbladde... |
ORPHA:96092 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Jaundice, Cholecystitis, Hyperbilirubinemia, Cholelithiasis |
OMIM:235700 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior, Hyperprolinemia, EEG abnormality, Abnormal repetitive mannerisms |
OMIM:239500 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Hyperactivity, Scoliosis, Bruxism |
OMIM:300434 |
| Glycogen Storage Disease Vii |
|
Elevated circulating creatine kinase concentration, Jaundice, Hyperuricemia, Cholelithiasis, Incr... |
OMIM:232800 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Pigment gallstones, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis |
OMIM:613470 |
| Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ... |
ORPHA:567983 |
| Crigler-Najjar Syndrome Type 1 |
|
Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Prolonged n... |
ORPHA:79234 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Hepatocellular carcinoma, Splenomegaly, Jaun... |
ORPHA:231222 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials, Anorexia |
ORPHA:99852 |
| 8p23.1 deletion syndrome |
|
Cryptorchidism, Hyperactivity |
DECIPHER:39 |
| Spherocytosis, Type 1 |
|
Splenomegaly, Cholelithiasis, Jaundice, Hyperbilirubinemia |
OMIM:182900 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Cryptorchidism, EEG abnormality, Self-mutilation |
OMIM:604317 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Kyphoscoliosis, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitiv... |
OMIM:615541 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Continuous spike and waves during slow sleep, Hyperactivity, Impulsivity, Attention deficit hyper... |
OMIM:301008 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Hearing impairment, Aggressive behavior |
ORPHA:208441 |
| Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Hyperglycinemia |
OMIM:605899 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Hypsarrhythmia, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundice, Hepatitis, Ch... |
OMIM:194380 |
| Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
| Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca... |
OMIM:235200 |
| Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... |
ORPHA:97278 |
| Pancreatic Colipase Deficiency |
|
Cholelithiasis, Exocrine pancreatic insufficiency |
ORPHA:309108 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality |
OMIM:237500 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Aggressive behavior, Precocious puberty, Scoliosis, Hearing impairment |
ORPHA:457260 |
| Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Atretic gallbladder, ... |
ORPHA:30391 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Increased circ... |
ORPHA:171876 |
| Metachromatic Leukodystrophy |
|
Hearing impairment, Decreased nerve conduction velocity, Abnormal gallbladder morphology, Hemobil... |
ORPHA:512 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Lumbar hyperlordosis, Aggressive behavior, Depression, Self-injurious behavior, Th... |
OMIM:619467 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Hyperactivity, Aggressive behavior, Cryptorchidism, Depression, Self-injurious behavior, EEG with... |
ORPHA:485350 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
EEG with parietal focal spikes, Hepatomegaly, Posteriorly rotated ears, Aggressive behavior, Prec... |
OMIM:301066 |
| Ck Syndrome |
|
Hyperactivity, Lumbar hyperlordosis, Posteriorly rotated ears, Kyphoscoliosis, Aggressive behavio... |
ORPHA:251383 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... |
OMIM:602347 |
| Landau-Kleffner Syndrome |
|
Interictal EEG abnormality, Hyperactivity, EEG with frontal focal spikes, Impulsivity, Aggressive... |
ORPHA:98818 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Kyphosis, Cryptorchidism, Repetitive compulsive behavior, Compulsive behaviors, Sc... |
ORPHA:352490 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... |
ORPHA:209902 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619662 |
| Ck Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Hyperlordosis, Kyphosis, Irritabili... |
OMIM:300831 |
| Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Abnormal circulating cholesterol concentration, Pseudobulbar paralysis, Abnorm... |
OMIM:213700 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Premature ovarian insufficiency, Female hypogonadism, Cholelithiasis, Decreas... |
OMIM:240300 |
| Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Ascites, Acholic stools, Hyp... |
OMIM:615710 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Hyperbilirubinemia, Abnormality of the male genitalia, Elevated ci... |
OMIM:614886 |
| Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Abnormality of the vertebral spinous processes, Abnormal auditory evoked poten... |
ORPHA:909 |
| Triosephosphate Isomerase Deficiency |
|
Optic disc pallor, Kyphosis, Jaundice, Splenomegaly, Cholecystitis, Prolonged neonatal jaundice, ... |
OMIM:615512 |
| Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Biliary atresia, Elevated circulating creatine kinase concentration, Attention deficit hyperactiv... |
ORPHA:565899 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
| Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatomega... |
ORPHA:171 |
| Kennedy Disease |
|
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Abnormal circulating lipid ... |
ORPHA:481 |
| Grfoma |
|
Anorexia, Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increase... |
ORPHA:97261 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Aggressive behavior, Cardiomegaly, Splenomegaly, Ovoid thoracolumbar... |
OMIM:252920 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
| Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Depression, Irritability, Com... |
OMIM:261600 |
| Hurler-Scheie Syndrome |
|
Hepatomegaly, Splenomegaly, Sensorineural hearing impairment, Spinal canal stenosis, Abnormal ner... |
ORPHA:93476 |
| Cimdag Syndrome |
|
Hepatomegaly, Microvesicular hepatic steatosis, Sensorineural hearing impairment, Hypogonadism, C... |
OMIM:619273 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hyperactivity, Hypospadias, Abnormal pinna morphology, Aggressive behavior, Kyphosis, Cryptorchid... |
OMIM:300354 |
| Steinfeld Syndrome |
|
Absent gallbladder, Abnormal pinna morphology, Abnormality of the vertebral column, Abnormal vert... |
OMIM:184705 |
| Dehydrated Hereditary Stomatocytosis |
|
Portal vein thrombosis, Increased circulating ferritin concentration, Splenomegaly, Intermittent ... |
ORPHA:3202 |
| Distal Duplication 5Q |
|
Hypospadias, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Low-set ears, Macrotia |
ORPHA:96097 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Kyphoscoliosis, Decreased nerve conduction velocity, Sensori... |
OMIM:601455 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Martinez-Frias Syndrome |
|
Hypoplasia of the gallbladder, Hypospadias, Extrahepatic biliary duct atresia, Annular pancreas, ... |
OMIM:601346 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Aggressive behavior, Kyphosis, EEG abnormality, Dysphagia |
ORPHA:500180 |
| Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Premature ovarian insufficiency, Kyphoscoliosis, Aggressive behavior, Irritability... |
ORPHA:391307 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Papilledema, Elevated circulating creatine kinase concentration |
OMIM:618775 |
| Sickle Cell Anemia |
|
Pigment gallstones, Abnormality of the spleen, Elevated circulating creatinine concentration, Cho... |
ORPHA:232 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism, Hyperactivity, Uplifted earlobe, Impulsivity |
OMIM:300143 |
| Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Hyperactivity, Splenomegaly, Ovoid thoracolumbar vertebrae, Scoliosis, Hearing impa... |
OMIM:252900 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Aggressive behavior, Kyphosis, Male urethral meatus stenosis, Scoliosis, Low-set ear... |
ORPHA:464738 |
| Trisomy 10P |
|
Absent gallbladder, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst... |
ORPHA:171929 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Lumbar hyperlordosis, Asymmetry of the ears, Bilateral cryptorchidism, Cryptorchid... |
OMIM:617796 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Os odontoideum, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing imp... |
OMIM:619260 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
| Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Asplenia, Annular pancreas, Abnormal vertebral morphology |
ORPHA:210122 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
| Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Hyperactivity, Kyphoscoliosis, Splenomegaly, Ovoid thoracolumbar vertebrae, Dysphag... |
OMIM:252930 |
| Porphyria, Congenital Erythropoietic |
|
Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating uroporphyrin concentration, Cholelithi... |
OMIM:263700 |
| Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypoalbuminemia, Hepatic fibrosis,... |
ORPHA:247585 |
| Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Exocrine pancreatic insufficiency, Splenomegaly, EEG abnormality, Recurrent pancrea... |
OMIM:618268 |
| Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Short neck, Bilateral cryptorchidism, Hypoplasia ... |
OMIM:305400 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder, Hypothyroidism, Mo... |
OMIM:619927 |
| Genitopalatocardiac Syndrome |
|
Hypospadias, Kyphosis, Cryptorchidism, Male pseudohermaphroditism, Abnormal mesentery morphology,... |
ORPHA:2075 |
| Hereditary Elliptocytosis |
|
Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaundice, Cholelithiasis, Neonatal... |
ORPHA:288 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hepatomegaly, Hyperactivity, Aggressive behavior, Precocious puberty, EEG with generalized polysp... |
ORPHA:163681 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
| Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
| 47,Xyy Syndrome |
|
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... |
ORPHA:8 |
| Lathosterolosis |
|
Elevated hepatic transaminase, Bilobate gallbladder, Lumbosacral meningocele, Intrahepatic choles... |
OMIM:607330 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Se... |
OMIM:619827 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Scoliosis, Attention deficit hyperactivity disor... |
OMIM:620141 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Decreased serum insulin-like growth factor 1, Hypertrigl... |
ORPHA:77293 |
| Sickle Cell Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Cholelithiasis, Priapism |
OMIM:603903 |
| Stankiewicz-Isidor Syndrome |
|
Sacral dimple, Hyperactivity, Hypospadias, Cryptorchidism, Pineal cyst, Abnormal optic disc morph... |
OMIM:617516 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Self-injurious behavior, EEG abnormality, Low-set ears, Bruxism, Abnormal repetiti... |
OMIM:618718 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Aggressive behavior, Precocious puberty, Scoliosis, Hearing impairment |
OMIM:300958 |
| Smith-Magenis Syndrome |
|
Hyperactivity, Hypertriglyceridemia, Abnormality of the thyroid gland, Self hugging, Head-banging... |
OMIM:182290 |
| Hereditary Spherocytosis |
|
Hepatomegaly, Splenomegaly, Jaundice, Hyperbilirubinemia, Cholelithiasis |
ORPHA:822 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Testicular at... |
ORPHA:465508 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG with per... |
ORPHA:206443 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Prelingual sensorineural h... |
ORPHA:52368 |
| Arthrogryposis, Distal, Type 2A |
|
Kyphoscoliosis, Short neck, Abnormal auditory evoked potentials, Cryptorchidism, Scoliosis, Spina... |
OMIM:193700 |
| Meckel Syndrome, Type 6 |
|
Abnormal internal genitalia, Absent gallbladder, Cystic liver disease, Bile duct proliferation, H... |
OMIM:612284 |
| Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormality of the vertebral column, Abnormal auditory evoked p... |
OMIM:109120 |
| Mend Syndrome |
|
Sacral dimple, Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Kyphosis,... |
ORPHA:401973 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hyperactivity, Diabetes mellitus, Hypospadias, Cryptorchidism, Spinal canal stenosis, Congenital ... |
OMIM:614613 |
| Potocki-Lupski Syndrome |
|
Hyperactivity, Oral-pharyngeal dysphagia, Hypothyroidism, EEG abnormality, Scoliosis, Hypocholest... |
OMIM:610883 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Diabetes mellitus, Hyperthyroidism, Aggressive behavior, Hypothyroidism, Macrotia,... |
ORPHA:449291 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Abnormality of the spleen, Sensorineural hearing impairment, Splenomegaly, Hepatospl... |
ORPHA:2072 |
| Pentalogy Of Cantrell |
|
Absent gallbladder, Polysplenia, Hypospadias, Scoliosis |
ORPHA:1335 |
| Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Self-injurious behavior, Hyperactivity, Scoliosis, Aggressive behavior |
OMIM:620023 |
| 19P13.12 Microdeletion Syndrome |
|
Hepatic steatosis, Hyperactivity, Hypospadias, Short neck, Precocious puberty, Kyphosis, Hyperlip... |
ORPHA:254346 |
| Lamb-Shaffer Syndrome |
|
Hyperactivity, Optic atrophy, Fused cervical vertebrae, Thoracic kyphosis, Scoliosis, Abnormal te... |
ORPHA:530983 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Neonatal insulin-dependent diabetes mellitus, Abnormal pinna morphology, Redu... |
ORPHA:556955 |
| Mogs-Cdg |
|
Absent brainstem auditory responses, Thoracic scoliosis, Hepatomegaly, External genital hypoplasi... |
ORPHA:79330 |
| 13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Kyphoscoliosis, Cryptorchidism, Self-mutilation, Hearing impairment |
ORPHA:412035 |
| Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... |
ORPHA:400 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Hypoplasia of penis, Cryptorchidism, Polyphagia, Self-injurious behavior, Abnormal... |
ORPHA:228402 |
| Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology |
ORPHA:3032 |
| Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Absent brainstem auditory responses, Hepatomegaly, Cryptorchidism,... |
ORPHA:90321 |
| Trisomy 8P |
|
Sacral dimple, Posteriorly rotated ears, Short neck, Cryptorchidism, Annular pancreas, Aplasia/Hy... |
ORPHA:264450 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
| Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Prolonged... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Prolonged... |
ORPHA:529799 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Biliary hyperplasia, Cryptorchidism, Cleft vertebral arch, Fused cervical vertebrae... |
ORPHA:83617 |
| Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif... |
OMIM:613027 |
| Fg Syndrome 3 |
|
Cryptorchidism, Hyperactivity, Sensorineural hearing impairment |
OMIM:300406 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... |
ORPHA:85327 |
| 22Q11.2 Deletion Syndrome |
|
Short neck, Hypoplasia of the thymus, Abnormality of the uterus, Hypocalcemia, Conductive hearing... |
ORPHA:567 |
| Steinert Myotonic Dystrophy |
|
Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Non-medullary t... |
ORPHA:273 |
| Triploidy |
|
Low-set, posteriorly rotated ears, Hepatomegaly, Hypoplasia of penis, Hypospadias, Short neck, Cr... |
ORPHA:3376 |
| Optic Atrophy 11 |
|
Hyperactivity, Decreased sensory nerve conduction velocity, Optic nerve hypoplasia, Splenomegaly,... |
OMIM:617302 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Kyphosis, Abnormality of the gallbladder, Anterior beaking of lumbar ... |
ORPHA:349 |
| 16P12.1P12.3 Triplication Syndrome |
|
Nail-biting, Hyperactivity, Decreased response to growth hormone stimulation test, Bilateral cryp... |
ORPHA:485405 |
| Digeorge Syndrome |
|
Hepatic steatosis, Pilonidal sinus, Parathyroid agenesis, Decreased circulating parathyroid hormo... |
OMIM:188400 |
| Vacterl/Vater Association |
|
Bifid scrotum, Low-set, posteriorly rotated ears, Hypoplasia of penis, Abnormal intervertebral di... |
ORPHA:887 |
| Metachromatic Leukodystrophy, Adult Form |
|
Decreased nerve conduction velocity, Optic atrophy, Depression, Bilateral sensorineural hearing i... |
ORPHA:309271 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Vertebral segmentation defect, Atresia of the external auditory canal, Hearin... |
ORPHA:3186 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
| Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Posteriorly rotated ears, Cryptorchidism, Microtia, Hypocalcemia |
OMIM:300712 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Hyperactivity, Short neck, Aggressive behavior, Kyphosis, Abnormal earlobe m... |
ORPHA:85293 |
| Argininemia |
|
Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Hyperammonemia, Cholestasis, Irrit... |
OMIM:207800 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Scoliosis, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abno... |
OMIM:617600 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Restless legs, Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve condu... |
ORPHA:101085 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Diabetes mellitus, Sensorineural hearing impairment, Optic a... |
ORPHA:1215 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Posteriorly rotated ears, Cryptorchidism, Microtia, Hypocalcemia... |
ORPHA:163979 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
| Wolfram Syndrome 1 |
|
Diabetes mellitus, Diabetes insipidus, Sensorineural hearing impairment, Optic atrophy, Dysphagia... |
OMIM:222300 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Abnormal pinna morphology, Septate vagina, Short neck, Uterus didelphys, Micr... |
OMIM:617925 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Abnormal circulating porphyrin concentration, Abnormal fear-induced b... |
ORPHA:100924 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Small scrotum, Cryptorchidism, Microphallus, Low frustration tolerance, Micropenis... |
OMIM:300486 |
| Hereditary Hemorrhagic Telangiectasia |
|
Portal hypertension, Cholecystitis, Cirrhosis, Cholelithiasis, Hepatic failure |
ORPHA:774 |
| Williams Syndrome |
|
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Cardiomegaly, Abnormal f... |
ORPHA:904 |
| Gaucher Disease Type 1 |
|
Hepatomegaly, Anorexia, Hypersplenism, Kyphosis, Splenomegaly, Cirrhosis, Delayed puberty, Verteb... |
ORPHA:77259 |
| Tetrasomy 9P |
|
Absent gallbladder, Sacral dimple, Hyperactivity, Short neck, Cryptorchidism, Jaundice, Biliary a... |
ORPHA:3310 |
| Abcd Syndrome |
|
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... |
OMIM:600501 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Abnormal eating behavior, EEG with abnormally slow frequencies, Tongue thrusting, ... |
ORPHA:98794 |
| Meckel Syndrome, Type 3 |
|
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate |
OMIM:607361 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy, Low-set ears |
OMIM:601163 |
| Mucopolysaccharidosis, Type Iiid |
|
Restlessness, Pilonidal sinus, Thoracic scoliosis, Hyperactivity, Hepatomegaly, Short neck, Aggre... |
OMIM:252940 |
| Ring Chromosome 13 Syndrome |
|
Bifid scrotum, Hypoplasia of the gallbladder, Hypospadias, Posteriorly rotated ears, Short neck, ... |
ORPHA:96176 |
| Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Conductive hearing impairment, Sensorineural hearing impairment, Exocrine pan... |
OMIM:618500 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... |
ORPHA:79303 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... |
OMIM:301068 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... |
OMIM:208540 |
| Cockayne Syndrome A |
|
Hepatomegaly, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve con... |
OMIM:216400 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ele... |
ORPHA:100085 |
| Bohring-Opitz Syndrome |
|
Low-set, posteriorly rotated ears, Cardiomegaly, Optic atrophy, Cholelithiasis, Annular pancreas |
ORPHA:97297 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Irritability, Optic atrophy |
OMIM:616881 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
| Zttk Syndrome |
|
Absent gallbladder, Kyphosis, Hemivertebrae, Optic atrophy, Protruding ear, Scoliosis, Low-set ears |
OMIM:617140 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Facial palsy, Sensorineural hear... |
OMIM:157640 |
| Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked... |
ORPHA:99027 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Cirrhosis |
OMIM:613987 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Hyperactivity, Lumbar hyperlordosis, Aggressive behavior, Hyperlordosis, Cryptorchidism, Self-inj... |
OMIM:616078 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile... |
ORPHA:562639 |
| Gallbladder Neuroendocrine Tumor |
|
Anorexia, Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Cholecystitis,... |
ORPHA:100086 |
| Joubert Syndrome 6 |
|
Abnormal repetitive mannerisms, Bile duct proliferation, Hepatic fibrosis |
OMIM:610688 |
| Cockayne Syndrome B |
|
Hepatomegaly, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve con... |
OMIM:133540 |
| Lesch-Nyhan Syndrome |
|
Self-injurious behavior, Testicular atrophy, Hyperuricemia, Dysphagia |
OMIM:300322 |
| Primary Biliary Cholangitis |
|
Orthostatic hypotension, Portal hypertension, Conjugated hyperbilirubinemia, Abnormality of the t... |
ORPHA:186 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Sensorineural hearing impairment, Optic atrophy, Bile duct prolife... |
OMIM:618329 |
| Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Increased circulatin... |
OMIM:609152 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
| Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Posteriorly rotated ears, Short neck... |
OMIM:261540 |
| Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... |
ORPHA:206436 |
| Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Short neck, Cryptorchidism, Low-set ears, Attention defi... |
OMIM:614294 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Vestibular areflexia, Absent brainstem auditory res... |
ORPHA:3240 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insufficiency, Biliary atresia,... |
ORPHA:2255 |
| Meckel Syndrome, Type 7 |
|
Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Bile d... |
OMIM:267010 |
| X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Kyphoscoliosis, Asymmetry of the ears, Kyphosis, Cryptorchidism, Cupped ear, EEG abn... |
ORPHA:3063 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Lumbar hyperlordosis, Optic nerve hypoplasia, Kyphoscoliosis, Hemivertebrae, ... |
ORPHA:500150 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality, Erectile dysfunction |
ORPHA:206448 |
| Ketamine-Induced Biliary Dilatation |
|
Abnormal biliary tract morphology |
ORPHA:293807 |
| D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Fetal ascites, Decreased nerve conduction velocity, ... |
OMIM:261515 |
| Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
| Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology, Persistent cloaca |
OMIM:615709 |
| Familial Gestational Hyperthyroidism |
|
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... |
ORPHA:99819 |
| Wolf-Hirschhorn Syndrome |
|
Low-set, posteriorly rotated ears, Sacral dimple, Hypospadias, Kyphosis, Cryptorchidism, Abnormal... |
ORPHA:280 |
| Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Biliary tract neoplasm, Abnormality of th... |
ORPHA:2869 |
| Neurofibroma |
|
Kyphoscoliosis, Spinal canal stenosis, Enlargement of parotid gland, Abnormal biliary tract morph... |
ORPHA:252183 |
| Meckel Syndrome, Type 5 |
|
Bile duct proliferation |
OMIM:611561 |
| Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic ... |
OMIM:619991 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... |
ORPHA:424 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Cryptorchidism, Abnormal fear-induc... |
ORPHA:353281 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Small scrotum, Portal hypertension, Cholestasis, Hypoalbuminemia, ... |
OMIM:613658 |
| Smith-Lemli-Opitz Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Aganglionic megacolon, Short... |
ORPHA:818 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior |
ORPHA:309246 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... |
OMIM:203700 |
| Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Pituitary adenom... |
ORPHA:733 |
| Myhre Syndrome |
|
Vertebral fusion, Short neck, Cryptorchidism, Enlarged vertebral pedicles, Platyspondyly, Microti... |
OMIM:139210 |
| Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangitis, Short neck, Splenomegaly, Biliary cirrh... |
OMIM:613610 |
| Choreoacanthocytosis |
|
Elevated circulating creatine kinase concentration, Compulsive behaviors, Decreased amplitude of ... |
ORPHA:2388 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Diabetes mellitus, Pancreatic hypoplasia, Biliary atresia |
OMIM:600001 |
| Meckel Syndrome, Type 2 |
|
Bile duct proliferation |
OMIM:603194 |
| Meckel Syndrome, Type 1 |
|
Accessory spleen, External genital hypoplasia, Adrenal hypoplasia, Short neck, Asplenia, Cryptorc... |
OMIM:249000 |
| Meckel Syndrome, Type 4 |
|
Bile duct proliferation |
OMIM:611134 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Polycystic liver disease, Pancreatic fibrosis, Conjugated hyperbilirubinemia, Pancreatic cysts, J... |
OMIM:208500 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:619525 |
| Osteogenesis Imperfecta |
|
Mixed hearing impairment, Cervical kyphosis, Kyphosis, Vertebral compression fracture, Abnormal f... |
ORPHA:666 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Cryptorchidism, Abnormal fear-induc... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Cryptorchidism, Abnormal fear-induc... |
ORPHA:353277 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Protruding ear, Hypoalbuminemia, He... |
OMIM:619534 |
| Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Hepatitis, Hypoplasia of the thymus, Type I diabetes mellitus, Abnormal ductus choledochus morpho... |
ORPHA:436252 |
