Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79235 |
Congenital Herpes Simplex Virus Infection |
|
Hydranencephaly, Intrauterine growth retardation, Premature birth, Microcephaly |
ORPHA:293 |
Malaria |
|
Retinopathy, Cognitive impairment, Hyperbilirubinemia, Elevated circulating C-reactive protein co... |
ORPHA:673 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Polyhydramnios, Hydrocephalus, Cerebellar hypoplasia, Holoprosencephaly, Cerebellar agenesis, Hyd... |
OMIM:617967 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
Hypercholanemia, Familial, 2 |
|
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia |
OMIM:619256 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia |
OMIM:618660 |
Crigler-Najjar Syndrome Type 1 |
|
Memory impairment, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus |
OMIM:182940 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration |
OMIM:619874 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Spina bifida |
ORPHA:2476 |
Frontal Encephalocele |
|
Encephalocele, Cerebral calcification, Spina bifida, Hydrocephalus, Aplasia/Hypoplasia of the cor... |
ORPHA:1931 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Truncus arteriosus, Microcephaly |
OMIM:601355 |
Schisis Association |
|
Encephalocele, Premature birth, Spina bifida, Microcephaly, Anencephaly |
ORPHA:63862 |
Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
Diprosopus |
|
Anencephaly |
ORPHA:1681 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Anencephaly 2 |
|
Anencephaly |
OMIM:619452 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Decreased fetal movement, Aplasia/Hypoplasia of the cerebellum, Microcephaly, Aplasia/Hypoplasia ... |
ORPHA:2570 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Placental Insufficiency |
|
Intrauterine growth retardation, Abnormal umbilical cord blood vessel morphology, Abnormal placen... |
ORPHA:439167 |
Hydrolethalus Syndrome 2 |
|
Agenesis of corpus callosum, Hydrocephalus, Anencephaly |
OMIM:614120 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Agenesis of cerebellar vermis, Microcephaly, Hydrocephalus, Meningocele, Anencepha... |
OMIM:611134 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Microcephaly, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Aplasia/... |
ORPHA:1908 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia |
OMIM:620010 |
Acalvaria |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:3111 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Premature birth, Polyhydramnios, Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebe... |
OMIM:225790 |
Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia |
OMIM:179700 |
Microhydranencephaly |
|
Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Pachygyria, Ag... |
OMIM:605013 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Distal Deletion 13Q |
|
Encephalocele, Microcephaly, Anencephaly, Aplasia/Hypoplasia of the corpus callosum, Holoprosence... |
ORPHA:1590 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Meningocele, Anencephaly, Intrauterine growth retardation, Dandy-Walker malformation |
OMIM:603194 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia |
OMIM:129850 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Hypoplasia of the brainstem, Stillbirth, Cerebellar hypoplasia, Neonatal death, Hydranencephaly, ... |
OMIM:236500 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Pigmentary retinopathy, Neonatal hyperbilirubinemia, Retinal degeneration |
ORPHA:3363 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida |
OMIM:211960 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Anencephaly, Cerebellar hypoplasia, Dandy-Walker malformation |
OMIM:614175 |
Hydrolethalus |
|
Premature birth, Absent septum pellucidum, Polyhydramnios, Hydrocephalus, Anencephaly, Agenesis o... |
ORPHA:2189 |
Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida, Microcephaly |
ORPHA:64754 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Anencephaly |
OMIM:611561 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Hepatic fibrosis, Esophagitis, In... |
ORPHA:541423 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia, Agenesis of co... |
OMIM:207950 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Intrauterine growth retardation, Severe intrauterine growth retardation, Small placenta, Microcep... |
ORPHA:73272 |
Aplasia Cutis Congenita |
|
Spinal dysraphism |
ORPHA:1114 |
Hyperbilirubinemia, Shunt, Primary |
|
Hyperbilirubinemia |
OMIM:237800 |
Caudal Duplication |
|
Myelomeningocele, Spinal cord lesion, Spina bifida |
ORPHA:1756 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Iniencephaly |
|
Encephalocele, Spina bifida, Polyhydramnios, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal... |
ORPHA:63259 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Anemia, Intestinal bleeding, Bone marrow hypocellularity, Intrauterine growth retardation, Oral l... |
OMIM:612199 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Intrauterine growth retardation, Small placenta, Oligohydramnios |
ORPHA:397590 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Microcephaly, Patent ductus arteriosus, Anencephaly, Agenesis of corpus callosum, ... |
OMIM:619148 |
Cerebrocostomandibular Syndrome |
|
Cerebral calcification, Spina bifida, Microcephaly, Myelomeningocele, Meningocele, Porencephalic ... |
ORPHA:1393 |
Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
Vacterl/Vater Association |
|
Occipital encephalocele, Premature birth, Polyhydramnios, Anencephaly, Single umbilical artery, I... |
ORPHA:887 |
Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Anencephaly, Hydrocephalus |
OMIM:313850 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Polyhydramnios, Hydrocephalus, Anencephaly, Hydrops fetalis, Hypopl... |
OMIM:616546 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida |
ORPHA:2345 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Lym... |
OMIM:619991 |
Limb Body Wall Complex |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Abnormal spinal cord m... |
ORPHA:2369 |
Biliary Atresia, Extrahepatic |
|
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin |
OMIM:210500 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Spina bifida |
ORPHA:2839 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Absent septu... |
OMIM:615287 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Intrauterine growth retardation, Spina bifida, Microcephaly |
ORPHA:1327 |
De Barsy Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Cutis laxa, Excessive wrinkled skin, High pa... |
ORPHA:2962 |
Short-Rib Thoracic Dysplasia 12 |
|
Polyhydramnios, Splenomegaly, Patent ductus arteriosus, Hydrocephalus, Anencephaly, Holoprosencep... |
OMIM:269860 |
Amish Lethal Microcephaly |
|
Decreased fetal movement, Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Lissencephaly... |
ORPHA:99742 |
Cutis Laxa, Autosomal Dominant 3 |
|
Intrauterine growth retardation, Premature skin wrinkling, Cutis laxa, Dermal translucency |
OMIM:616603 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:243300 |
Pentalogy Of Cantrell |
|
Encephalocele, Hydrocephalus, Anencephaly, Polysplenia |
ORPHA:1335 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Increased serum bile acid concentration, Increased total iron binding capacity, Hyperbilirubinemia |
OMIM:616278 |
Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin |
ORPHA:890 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Pyloric stenosis, Cutis laxa, Excessive wrinkled skin, Intrauterine growth retardation, Dermal tr... |
OMIM:614438 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Atrial septal defect, Dermal translucency |
OMIM:619115 |
Isolated Polycystic Liver Disease |
|
Increased total bilirubin |
ORPHA:2924 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly |
OMIM:612284 |
Neu-Laxova Syndrome 1 |
|
Decreased fetal movement, Spina bifida, Polyhydramnios, Fetal akinesia sequence, Patent ductus ar... |
OMIM:256520 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Occipital encephalocele, Microcephaly, Asplenia, Large placenta, Patent ductus ... |
OMIM:249000 |
Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia |
OMIM:601775 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Spina bifida |
ORPHA:1120 |
Trisomy 18 |
|
Spina bifida, Microcephaly, Anencephaly, Aplasia/Hypoplasia of the corpus callosum, Holoprosencep... |
ORPHA:3380 |
Lipoyltransferase 1 Deficiency |
|
Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin |
OMIM:616299 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Dermal translucency |
ORPHA:529965 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2 |
|
Dermal translucency |
OMIM:619120 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Umbilical hernia, Redundant skin, Dermal translucency |
OMIM:225410 |
Fontaine Progeroid Syndrome |
|
Dermal translucency, Atrial septal defect, Bicuspid aortic valve, Redundant skin, Periventricular... |
OMIM:612289 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Ventricular septal defect, Patent ductus arteriosus, High palate, Pulmonic stenosis, Atrial septa... |
OMIM:617506 |
Pilarowski-Bjornsson Syndrome |
|
Dermal translucency |
OMIM:617682 |
Neu-Laxova Syndrome 2 |
|
Decreased fetal movement, Spina bifida, Microcephaly, Polyhydramnios, Lissencephaly, Cerebellar h... |
OMIM:616038 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Czeizel-Losonci Syndrome |
|
Thickened nuchal skin fold, Spina bifida, Myelomeningocele, Hydrocephalus, Spina bifida occulta |
ORPHA:2437 |
Fetal Akinesia Deformation Sequence 1 |
|
Decreased fetal movement, Premature birth, Absent septum pellucidum, Polyhydramnios, Fetal akines... |
OMIM:208150 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Large placenta, Umbilical hernia, Polyhydramnios |
ORPHA:254534 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hyperlipidemia |
OMIM:214900 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Increased serum bile acid concentration, Irritability, Hyperbilirubinemia |
OMIM:619685 |
Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia |
OMIM:619232 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Retinal dystrophy, Hyperbilirubinemia |
ORPHA:713 |
Diabetic Embryopathy |
|
Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Spinal dysraphism, Single... |
ORPHA:1926 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... |
ORPHA:766 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Polymicrogyria, Pulmonic stenosis, Dermal translucency |
OMIM:618343 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Cleft palate, Cutis laxa, Dermal translucency |
OMIM:615349 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... |
OMIM:614300 |
Fountain Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:3219 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Mosaic Trisomy 9 |
|
Spina bifida, Microcephaly, Asplenia, Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, ... |
ORPHA:99776 |
Hijazi-Reis Syndrome |
|
Hyperbilirubinemia |
OMIM:301094 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hydrocephalus, Mitral valve prolapse, High palate, Dermal translucency |
ORPHA:536467 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Meckel Syndrome |
|
Encephalocele, Accessory spleen, Microcephaly, Asplenia, Hydrocephalus, Anencephaly, Lobar holopr... |
ORPHA:564 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Dermal translucency |
OMIM:137940 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Patent ductus arteriosus, Hydr... |
OMIM:609192 |
Neu-Laxova Syndrome |
|
Decreased fetal movement, Cerebral calcification, Absent septum pellucidum, Spina bifida, Abnorma... |
ORPHA:2671 |
Spherocytosis, Type 4 |
|
Hyperbilirubinemia |
OMIM:612653 |
Chromosome 17P13.1 Deletion Syndrome |
|
Decreased fetal movement, Diffuse cerebral atrophy, Spina bifida, Microcephaly, Hydrocephalus, Um... |
OMIM:613776 |
Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia |
OMIM:268150 |
Liver Failure, Infantile, Transient |
|
Irritability, Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
Cousin Syndrome |
|
Hydranencephaly, Hydrocephalus |
OMIM:260660 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia |
OMIM:130600 |
Restrictive Dermopathy |
|
Dextrocardia, Large placenta, Patent ductus arteriosus, Submucous cleft hard palate, Short umbili... |
ORPHA:1662 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia |
OMIM:301083 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ... |
ORPHA:158057 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:605479 |
Barber-Say Syndrome |
|
Redundant skin, Velopharyngeal insufficiency, High palate, Premature skin wrinkling, Dry skin, De... |
OMIM:209885 |
Harderoporphyria |
|
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia |
OMIM:618892 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Absent septum pellucidum, Abnormal cortical gyration, Polyhydramnios, Anencepha... |
OMIM:236680 |
Infantile Sialic Acid Storage Disease |
|
Conjugated hyperbilirubinemia |
OMIM:269920 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Patent ductus arteriosus, Hydr... |
OMIM:610168 |
Spherocytosis, Type 1 |
|
Hyperbilirubinemia |
OMIM:182900 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Spherocytosis, Type 2 |
|
Hyperbilirubinemia |
OMIM:616649 |
Autosomal Dominant Cutis Laxa |
|
Redundant neck skin, Redundant skin, Dilatation of the ventricular cavity, Cutis laxa, Small bowe... |
ORPHA:90348 |
Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia |
ORPHA:95717 |
Vacterl With Hydrocephalus |
|
Polyhydramnios, Spina bifida, Aqueductal stenosis, Hydrocephalus, Single umbilical artery, Intrau... |
ORPHA:3412 |
Bachmann-Bupp Syndrome |
|
Attention deficit hyperactivity disorder, Hyperbilirubinemia |
OMIM:619075 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Abnormal serum bile acid concentration |
ORPHA:79303 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Decreased serum bile acid concentration, Hyperbilirubinemia |
OMIM:214950 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level |
ORPHA:95715 |
Intrahepatic Cholestasis Of Pregnancy |
|
Increased serum bile acid concentration, Hyperbilirubinemia, Depression |
ORPHA:69665 |
Hepatoportal Sclerosis |
|
Cognitive impairment, Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:64743 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hyperbilirubinemia |
OMIM:235555 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Confusion, Hyperbilirubinemia |
ORPHA:542323 |
Trisomy 20P |
|
Umbilical hernia, Spina bifida |
ORPHA:261318 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Microcephaly, Tethered cord, Spinal dysraphism |
OMIM:617660 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia |
OMIM:619484 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated hepatic iro... |
OMIM:616860 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia |
ORPHA:98870 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Hyperbilirubinemia |
OMIM:235700 |
Glycogen Storage Disease Vii |
|
Hyperuricemia, Elevated circulating creatine kinase concentration, Increased total bilirubin |
OMIM:232800 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
ORPHA:234 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90037 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Tethered cord, Spinal dysraphism |
OMIM:612918 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Umbilical hernia, Large placenta, Polyhydramnios, Intrauterine growth retardation |
ORPHA:254528 |
Fibular Hemimelia |
|
Thrombocytopenia, Spina bifida |
ORPHA:93323 |
Distal Xq28 Microduplication Syndrome |
|
Neonatal hyperbilirubinemia, Attention deficit hyperactivity disorder, Depression |
ORPHA:293939 |
Wiedemann-Rautenstrauch Syndrome |
|
Hydrocephalus, Congenital malformation of the left heart, Severe intrauterine growth retardation,... |
ORPHA:3455 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:617049 |
Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
Focal Dermal Hypoplasia |
|
Umbilical hernia, Patent ductus arteriosus, Spina bifida |
ORPHA:2092 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida |
ORPHA:2874 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hyperbilirubinemia |
ORPHA:79302 |
Ring Chromosome 13 Syndrome |
|
Agenesis of corpus callosum, Anencephaly, Microcephaly |
ORPHA:96176 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cerebellar vermis hypoplasia, Eosinophilia, Spina bifida, Thrombocytopenia, Patent ductus arterio... |
OMIM:274000 |
Mosaic Trisomy 16 |
|
Premature birth, Large placenta, Patent ductus arteriosus, Single umbilical artery, Intrauterine ... |
ORPHA:1708 |
Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia |
OMIM:613280 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia |
OMIM:609734 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
Loeys-Dietz Syndrome 3 |
|
Ventricular hypertrophy, Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Paten... |
OMIM:613795 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Spinal dysraphism |
OMIM:603546 |
Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:95716 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia |
OMIM:614886 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Irritability, H... |
OMIM:603553 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida |
OMIM:193500 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Irritability, Hyperuricemia, Neonatal hyperbilirubinemia |
ORPHA:348 |
Pagod Syndrome |
|
Encephalocele, Spina bifida, Microcephaly, Abnormality of the spleen, Meningocele |
ORPHA:991 |
Fibromuscular Dysplasia, Multifocal |
|
Hiatus hernia, High palate, Striae distensae, Dermal translucency |
OMIM:619329 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Tethered cord, Spina bifida, Patent ductus arteriosus, Partial agenesis of the corpus callosum, T... |
OMIM:619480 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... |
OMIM:617156 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hyperbilirubinemia |
OMIM:616689 |
Nail-Patella Syndrome |
|
Spina bifida |
OMIM:161200 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Spina bifida, Microcephaly, Patent ductus arteriosus,... |
ORPHA:84 |
Trichohepatoenteric Syndrome 1 |
|
Increased mean platelet volume, Polyhydramnios, Splenomegaly, Large placenta, Abnormalities of pl... |
OMIM:222470 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:1667 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Optic nerve hypoplasia, Spina bifida, Microcephaly, Hypoplasia of the corpus callosum, Truncus ar... |
ORPHA:508498 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90036 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Optic atrophy, Irritability, Hypocalcemia, Hyperbilirubinemia |
OMIM:259720 |
Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Tethered cord, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hy... |
OMIM:600145 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... |
OMIM:227810 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Ecchymosis, Mitral valve prolapse, Anemia, Dermal translucency |
OMIM:130050 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Abnormality of retinal pigmentation, Rod-cone dystrophy,... |
ORPHA:14 |
Ulnar Hemimelia |
|
Spinal dysraphism |
ORPHA:93320 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:601847 |
Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Partial agenesis of the corpus callosum... |
OMIM:304050 |
Jacobsen Syndrome |
|
Premature birth, Spina bifida, Cerebral atrophy, Intrauterine growth retardation, Pachygyria, Age... |
ORPHA:2308 |
22Q11.2 Deletion Syndrome |
|
Spina bifida, Microcephaly, Polyhydramnios, Splenomegaly, Patent ductus arteriosus, Meningocele, ... |
ORPHA:567 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia |
OMIM:211600 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
High palate, Cutis laxa, Dermal translucency |
OMIM:614437 |
Basal Cell Nevus Syndrome 1 |
|
Calcification of falx cerebri, Hydrocephalus, Spina bifida |
OMIM:109400 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Portal vei... |
ORPHA:3202 |
Vater/Vacterl Association |
|
Occipital encephalocele, Tethered cord, Spina bifida, Patent ductus arteriosus, Single umbilical ... |
OMIM:192350 |
Relapsing Fever |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:91547 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Hypocholesterolemia |
OMIM:607765 |
Hallermann-Streiff Syndrome |
|
Spina bifida, Microcephaly |
OMIM:234100 |
Graft Versus Host Disease |
|
Irritability, Hyperbilirubinemia |
ORPHA:39812 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia |
OMIM:609727 |
Kagami-Ogata Syndrome |
|
Large placenta, Premature birth, Polyhydramnios |
ORPHA:254519 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hyperammonemia, Hyperprolinemia, H... |
ORPHA:3008 |
Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia |
OMIM:266200 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... |
OMIM:608836 |
Hereditary Elliptocytosis |
|
Neonatal hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:288 |
Overhydrated Hereditary Stomatocytosis |
|
Hyperbilirubinemia |
OMIM:185000 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Greenberg Dysplasia |
|
Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Increased nucha... |
OMIM:215140 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirubinemia |
OMIM:251880 |
Autoimmune Hepatitis |
|
Depression, Increased total bilirubin |
ORPHA:2137 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hyperbilirubinemia |
OMIM:613812 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Hyperbilirubinemia |
OMIM:613673 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Hyperbilirubinemia |
OMIM:613986 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Conjugated hyperbilirubinemia |
OMIM:613404 |
Restrictive Dermopathy 1 |
|
Spontaneous chorioamniotic separation, Decreased fetal movement, Premature birth, Polyhydramnios,... |
OMIM:275210 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Depression, Attention deficit hyperactivity disorder, Hypercholesterolemia, Abnormal circulating ... |
ORPHA:90674 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia |
OMIM:617093 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
Holoprosencephaly |
|
Encephalocele, Microcephaly, Abnormality of the spleen, Hydrocephalus, Spinal cord tumor, Spinal ... |
ORPHA:2162 |
Split Cord Malformation |
|
Tethered cord, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydroc... |
ORPHA:573278 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Conjugated hyperbilirubinemia, Increased circulating very long-chain fatty acid concentration |
OMIM:614887 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Hypouricemia, Dementia, Hypoalbuminemia, High ... |
OMIM:277900 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Spina bifida, Microcephaly, Hydrocephalus, Fetal pyelectasis, Dural ectasia, Hypoplasia of the co... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Spina bifida, Microcephaly, Hydrocephalus, Fetal pyelectasis, Dural ectasia, Hypoplasia of the co... |
ORPHA:363958 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Conjugated hyperbilirubinemia, Optic nerve dysplasia, Optic atrophy, Elevated circulating phytani... |
OMIM:614866 |
Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Spina bifida, Microcephaly, Polyhydramnios, Patent ductus arteriosus, Hyperinte... |
OMIM:180849 |
Vascular Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, Redundant skin, High, narrow palate, Mitral valve prolapse, Exce... |
ORPHA:286 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia |
OMIM:300908 |
Rh Deficiency Syndrome |
|
Reduced haptoglobin level, Hyperbilirubinemia |
ORPHA:71275 |
Glycogen Storage Disease Xii |
|
Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Hyperbilirubinemia |
OMIM:611881 |
Fumarase Deficiency |
|
Optic atrophy, Hyperbilirubinemia |
OMIM:606812 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Conjugated hyperbilirubinemia |
OMIM:208085 |
Isolated Posterior Meningocele |
|
Tethered cord, Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Hydromyelia,... |
ORPHA:268810 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hyperbilirubinemia |
OMIM:224120 |
Campomelic Dysplasia |
|
Hydrocephalus, Polyhydramnios, Spina bifida, Spinal dysraphism |
OMIM:114290 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Vitreous hemorrhage, Retinal hemorrhage, Hyperbilirubinemia |
ORPHA:464321 |
Cystic Echinococcosis |
|
Hyperbilirubinemia |
ORPHA:400 |
Mitchell-Riley Syndrome |
|
Hyperbilirubinemia |
OMIM:615710 |
Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia |
ORPHA:95232 |
Cartilage-Hair Hypoplasia |
|
Neutropenia, Anemia, Spinal dysraphism |
ORPHA:175 |
Hereditary Spherocytosis |
|
Hyperbilirubinemia |
ORPHA:822 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Elevated circulating creatinine concentration, Irritability, Hypokalemia, Unconjuga... |
ORPHA:90038 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Short attention span, Depression, Irritability, Diminished ability to concentrate, Attention defi... |
OMIM:619475 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Premature birth, Polyhydramnios, Microcephaly, Large placenta, Spinal dysraphism, Hepatosplenomeg... |
ORPHA:96334 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90673 |
Beckwith-Wiedemann Syndrome |
|
Premature birth, Polyhydramnios, Splenomegaly, Large placenta, Subchorionic septal cyst, Umbilica... |
ORPHA:116 |
Mirizzi Syndrome |
|
Hyperbilirubinemia |
ORPHA:521219 |
Lathosterolosis |
|
Abnormal circulating cholesterol concentration, Elevated circulating lathosterol concentration, H... |
OMIM:607330 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Conjugated hyperbilirubinemia, Retinal degeneration |
OMIM:208500 |
Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia |
ORPHA:186 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Conjugated hyperbilirubinemia, Hyperkalemia |
OMIM:608885 |
Parenteral Nutrition-Associated Cholestasis |
|
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration |
ORPHA:567983 |
Otopalatodigital Syndrome, Type Ii |
|
Umbilical hernia, Hydrocephalus, Stillbirth, Spina bifida |
OMIM:304120 |
Caroli Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:480520 |
Hardikar Syndrome |
|
Pigmentary retinopathy, Irritability, Hyperbilirubinemia |
OMIM:301068 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypocalcemia, Hyperbilirubinemia |
ORPHA:163979 |
Ogden Syndrome |
|
Irritability, Hyperbilirubinemia |
OMIM:300855 |
Senior-Boichis Syndrome |
|
Attention deficit hyperactivity disorder, Increased total bilirubin |
ORPHA:84081 |
Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida, Microcephaly |
ORPHA:322 |
Fructose Intolerance, Hereditary |
|
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia |
OMIM:229600 |
Caroli Disease |
|
Conjugated hyperbilirubinemia, Abnormal circulating alpha-fetoprotein concentration |
ORPHA:53035 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Hyperbilirubinemia |
ORPHA:562639 |
Pearson Marrow-Pancreas Syndrome |
|
Hyperbilirubinemia |
OMIM:557000 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Irritability, Unconjugated hyperbilirubinemia |
OMIM:618278 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Hyperbilirubinemia |
OMIM:218700 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Conjugated hyperbilirubinemia |
ORPHA:168577 |
Isolated Biliary Atresia |
|
Conjugated hyperbilirubinemia |
ORPHA:30391 |
Cranioectodermal Dysplasia 2 |
|
Hyperbilirubinemia |
OMIM:613610 |
Reynolds Syndrome |
|
Calcinosis, Hyperbilirubinemia |
OMIM:613471 |
X-Linked Intellectual Disability, Nascimento Type |
|
Neonatal hyperbilirubinemia |
ORPHA:163956 |
Degcags Syndrome |
|
Hyperbilirubinemia |
OMIM:619488 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hyperbilirubinemia, Progressive neurologic deterioration |
OMIM:210710 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Optic disc coloboma, Unconjugated hyperbilirubinemia |
OMIM:620186 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia |
OMIM:613658 |
Congenital Erythropoietic Porphyria |
|
Unconjugated hyperbilirubinemia, Abnormal circulating porphyrin concentration, Reduced haptoglobi... |
ORPHA:79277 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Rod-cone dystrophy, Neonatal hyperbilirubinemia |
OMIM:300896 |
Yellow Fever |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration... |
ORPHA:99829 |
Neurooculorenal Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:620305 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... |
OMIM:619534 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood... |
ORPHA:447 |
Johanson-Blizzard Syndrome |
|
Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration |
OMIM:243800 |
Epilepsy, Familial Adult Myoclonic, 7 |
|
|
OMIM:618075 |