Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment... |
OMIM:609129 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment |
OMIM:601071 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... |
OMIM:616515 |
Deafness, Autosomal Recessive 25 |
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Hearing impairment, Progressive sensorineural hearing impairment |
OMIM:613285 |
Deafness, Autosomal Recessive 29 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:614035 |
Deafness, Autosomal Recessive 20 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:604060 |
Deafness, Autosomal Recessive 13 |
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Sensorineural hearing impairment, Hearing impairment |
OMIM:603098 |
Deafness, Autosomal Recessive 57 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:618003 |
Syndactyly Type 4 |
|
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... |
ORPHA:93405 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia, Cataract |
OMIM:618660 |
Acromesomelic Dysplasia 2C |
|
Short tibia, Short foot, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip disloc... |
OMIM:201250 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... |
OMIM:607778 |
Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Hypoplas... |
OMIM:200700 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
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Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, L... |
OMIM:118651 |
Osebold-Remondini Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Hyp... |
OMIM:112910 |
Crigler-Najjar Syndrome Type 2 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79235 |
Acromesomelic Dysplasia, Grebe Type |
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Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... |
ORPHA:2098 |
Fibular Hemimelia |
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Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... |
ORPHA:93323 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
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Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Fibular aplasia, Tibial bowing |
OMIM:246570 |
Langer Mesomelic Dysplasia |
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Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Micrognathia, Radial bowin... |
OMIM:249700 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Leri-Weill Dyschondrosteosis |
|
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Hypoplasia ... |
OMIM:127300 |
Acheiropody |
|
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Aplas... |
OMIM:200500 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Crigler-Najjar Syndrome Type 1 |
|
Unconjugated hyperbilirubinemia, Tremor, Neonatal hyperbilirubinemia |
ORPHA:79234 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication |
OMIM:188740 |
Lethal Faciocardiomelic Dysplasia |
|
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Microretrognathia, Hyp... |
ORPHA:1972 |
Léri-Weill Dyschondrosteosis |
|
Short tibia, Abnormal carpal morphology, Abnormal metaphysis morphology, Genu valgum, Abnormality... |
ORPHA:240 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... |
OMIM:616648 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Rotor Syndrome |
|
Hyperbilirubinemia, Conjunctival icterus, Conjugated hyperbilirubinemia |
ORPHA:3111 |
Hypercholanemia, Familial, 2 |
|
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619256 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
Jaundice, Familial Obstructive, Of Infancy |
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Neonatal hyperbilirubinemia |
OMIM:308600 |
Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration |
OMIM:619874 |
Hyperlysinemia, Type I |
|
Hyperlysinemia, Hyperactivity, Ectopia lentis |
OMIM:238700 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Hypoplasia of the radius, Lytic defects of humeral diaphysis, Short femur, Hypoplasi... |
OMIM:601376 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem |
ORPHA:99852 |
Malaria |
|
Hyperbilirubinemia, Gait imbalance, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
Mesomelic Dysplasia, Savarirayan Type |
|
Short tibia, Abnormal foot morphology, Hip dislocation, Talipes equinovalgus, Dislocated radial h... |
OMIM:605274 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... |
ORPHA:1986 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hyperbilirubinemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia |
OMIM:620010 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... |
ORPHA:320401 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Short tibia, Absent thumb, Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
Endove Syndrome, Limb-Only Type |
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Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, Cutaneous ... |
OMIM:619217 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal dystrophy, Corneal opacity, Band keratopathy |
OMIM:300779 |
Ring Dermoid Of Cornea |
|
Abnormal conjunctiva morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnorma... |
OMIM:180550 |
Deafness, Autosomal Dominant 41 |
|
Hearing impairment, Progressive sensorineural hearing impairment, Tinnitus |
OMIM:608224 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Broad foot, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Ab... |
OMIM:135750 |
Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia |
OMIM:129850 |
Orofaciodigital Syndrome Type 10 |
|
Short tibia, Short toe, Mesomelic leg shortening, Micrognathia, Metatarsal synostosis, Oligodacty... |
ORPHA:2756 |
Dyschondrosteosis And Nephritis |
|
Short tibia, Radial bowing, Ulnar bowing, Short forearm |
OMIM:127350 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment |
OMIM:601455 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Conjuga... |
OMIM:619868 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... |
ORPHA:3329 |
Glycine Encephalopathy |
|
Hyperactivity, Hyperglycinemia, Impulsivity, Lethargy, Restlessness |
OMIM:605899 |
Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia |
OMIM:179700 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma, Ataxia |
OMIM:271310 |
Tibial Hemimelia |
|
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... |
ORPHA:93322 |
Smith-Magenis syndrome |
|
Hyperactivity, Brachydactyly |
DECIPHER:8 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Absent tibia, Camp... |
OMIM:612576 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Polydactyly, Syndactyly |
OMIM:300484 |
Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia, Tremor... |
OMIM:613280 |
Cataract-Microcornea Syndrome |
|
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy |
ORPHA:1377 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Ataxia, Tremor, Hypertriglyceridemia, Dystonia |
OMIM:615924 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Choreoathetosis, Ataxia, Transient hyperphenylalaninemia, Tremor, Dystonia |
OMIM:612716 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Talipes equinovarus, Congenital bilateral hip dislocation, Cataract |
ORPHA:85288 |
Abcd Syndrome |
|
Abnormal auditory evoked potentials, Aganglionic megacolon, Total intestinal aganglionosis, Heari... |
OMIM:600501 |
Deafness, Autosomal Dominant 58 |
|
Hearing impairment, Tinnitus |
OMIM:615654 |
Deafness, Autosomal Dominant 2A |
|
Hearing impairment, Tinnitus |
OMIM:600101 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Short tibia, 11 pairs of ribs, Triphalangeal thumb, Micrognathia, Clinodactyly, Oligodactyly, Ove... |
OMIM:201170 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
Blount Disease |
|
Tibial bowing, Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal ti... |
ORPHA:2768 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal irregularity, Short lower limbs, Tibial bowing, Femoral bowing, Flared me... |
ORPHA:93356 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy |
OMIM:125250 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... |
OMIM:605814 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy |
OMIM:617519 |
Hyperprolinemia, Type I |
|
Hyperactivity, Hyperprolinemia, Ataxia |
OMIM:239500 |
Hyperbilirubinemia, Shunt, Primary |
|
Hyperbilirubinemia |
OMIM:237800 |
Lipoyltransferase 1 Deficiency |
|
Increased total bilirubin, Dystonia, Hyperprolinemia, Hyperglutaminemia |
OMIM:616299 |
Otosclerosis 7 |
|
Conductive hearing impairment, Otosclerosis, Progressive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Idiopathic Congenital Hypothyroidism |
|
Lethargy, Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia, Abnormal... |
ORPHA:95717 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... |
OMIM:228930 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Patellar aplasia, Synostosis of... |
ORPHA:988 |
Developmental And Epileptic Encephalopathy 43 |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia |
OMIM:617113 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly |
OMIM:228250 |
Acromesomelic Dysplasia 2B |
|
Short phalanx of finger, Deviation of finger, Malaligned carpal bone, Patellar dislocation, Rhizo... |
OMIM:228900 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Patellar aplasia, Hand monodactyly, Absent tibia, Short hallux, Split foot, Split hand, Aplasia o... |
OMIM:119100 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... |
OMIM:601596 |
Lattice Corneal Dystrophy Type I |
|
Corneal scarring, Central opacification of the cornea, Corneal stromal edema, Lattice corneal dys... |
ORPHA:98964 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity, Small hand, Hip dislocation, Short foot, Talipes equinovarus |
OMIM:300434 |
Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder, Episodic ataxia |
OMIM:234500 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short tibia, Rhizomelia, Short ribs, Hypoplasia of the radius, Short femur, Sandal gap, Hypocalce... |
OMIM:607143 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait ataxia, Hyperactivity, Inability to walk, Gait disturbance, Dysmetria, Tremor |
OMIM:618090 |
Orofaciodigital Syndrome Iv |
|
Short tibia, Toe syndactyly, Micrognathia, Foot polydactyly, Short finger, Hand polydactyly, Clin... |
OMIM:258860 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal degeneration, Descemet Membrane Folds, Corneal guttata, Corneal stromal edema, Corneal dy... |
OMIM:136800 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
Stuve-Wiedemann Syndrome 1 |
|
Short tibia, Short phalanx of finger, Micrognathia, Metaphyseal rarefaction, Camptodactyly, Hypop... |
OMIM:601559 |
Slc35A2-Cdg |
|
Camptodactyly of finger, Short tibia, Hip subluxation, Coxa valga, Abnormal long bone morphology,... |
ORPHA:356961 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Coxa valga, Radial bowing, Lateral humeral condyle aplasia, Mesomelia, Opacificatio... |
OMIM:164900 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hyperthreoninemia, Hypergalactosemia, H... |
ORPHA:247598 |
Eiken Syndrome |
|
Short phalanx of finger, Broad foot, Short toe, Metaphyseal irregularity, Abnormal fingertip morp... |
ORPHA:79106 |
Mesomelic Dysplasia, Savarirayan Type |
|
Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Narrow ili... |
ORPHA:85170 |
Isolated Polycystic Liver Disease |
|
Increased total bilirubin |
ORPHA:2924 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hyperbilirubinemia, Tremor, Ataxia |
ORPHA:713 |
Mohr-Tranebjaerg Syndrome |
|
Global brain atrophy, Postlingual sensorineural hearing impairment, Sensorineural hearing impairm... |
ORPHA:52368 |
Short Rib-Polydactyly Syndrome |
|
Short tibia, Polydactyly, Abnormal pelvis bone ossification, Limb undergrowth, Short ribs, Acetab... |
ORPHA:1505 |
Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin |
ORPHA:890 |
Biliary Atresia, Extrahepatic |
|
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia |
OMIM:210500 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Tremor, Broad-based gait |
OMIM:619470 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Broad femoral head, Fibular bowing, Exostoses of the radius, Hypoplasia ... |
ORPHA:85188 |
Juvenile Huntington Disease |
|
Gait ataxia, Hyperactivity, Ataxia, Progressive cerebellar ataxia, Dystonia, Broad-based gait, Br... |
ORPHA:248111 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hyperbilirubinemia, Increased total iron binding capacity, Increased serum bile acid concentration |
OMIM:616278 |
Weismann-Netter Syndrome |
|
Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, Abnormali... |
ORPHA:3344 |
Familial Thyroid Dyshormonogenesis |
|
Delayed proximal femoral epiphyseal ossification, Abnormal circulating thyroglobulin level, Neona... |
ORPHA:95716 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Micrognathia, Clinodactyly, Clinodactyly of the 5th finger, Neonatal hyperbilirubi... |
ORPHA:73272 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hyperactivity, Hallux valgus, Hyperopic astigmatism, Cone-shaped epiphyses of the 2nd toe, Cone-s... |
ORPHA:397973 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Clinodactyly |
OMIM:300928 |
Distal Xq28 Microduplication Syndrome |
|
Tip-toe gait, Clinodactyly, Metatarsus adductus, Impulsivity, Neonatal hyperbilirubinemia, Attent... |
ORPHA:293939 |
Infantile Sialic Acid Storage Disease |
|
Abnormal foot morphology, Metaphyseal irregularity, Conjugated hyperbilirubinemia |
OMIM:269920 |
Phenylketonuria |
|
Hyperactivity, Hyperphenylalaninemia, Maternal hyperphenylalaninemia, Cataract, Attention deficit... |
OMIM:261600 |
Microphthalmia With Limb Anomalies |
|
Short tibia, Toe syndactyly, Micrognathia, Hip dislocation, Postaxial hand polydactyly, Talipes e... |
ORPHA:1106 |
Chromosome 3Q29 Deletion Syndrome |
|
Gait ataxia, Hyperactivity, Tapered finger, Clinodactyly of the 5th finger, Long fingers |
OMIM:609425 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Short tibia, Short phalanx of finger, Hip subluxation, Mesomelic leg shortening, Short 5th finger... |
OMIM:268305 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Pes cavus, Hyperactivity, Neonatal hyperbilirubinemia |
OMIM:609727 |
Microcephaly-Micromelia Syndrome |
|
Short tibia, Absent thumb, Humeroradial synostosis, Micrognathia, Missing ribs, Absent radius, Ol... |
OMIM:251230 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Knee flexion contracture, Genu valgum, Rhizomelia, Micrognathia, Fragmented epiphyses, Epiphyseal... |
ORPHA:166016 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Temporal optic disc pallor, Sensorineural hearing impairment... |
ORPHA:1215 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short phalanx of finger, Toe syndactyly, Micrognathia, Flared iliac wing, Aplasia/hypoplasia of t... |
OMIM:609945 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... |
ORPHA:2378 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal cupping, Coxa vara, Rhizomelia, Radial bowing, Flared iliac wing, Ulnar b... |
OMIM:602111 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hyperlipidemia |
OMIM:214900 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Increased total bilirubin |
OMIM:618528 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Increased serum bile acid concentration, Conjugated hyperbilirubinemia |
OMIM:243300 |
Acheiropodia |
|
Aplasia of the ulna, Upper limb phocomelia, Absent radius, Abnormal metaphysis morphology, Abnorm... |
ORPHA:931 |
Acrocraniofacial Dysostosis |
|
Abnormality of the outer ear, Abnormal auditory evoked potentials, Conductive hearing impairment,... |
OMIM:201050 |
Orofaciodigital Syndrome Ix |
|
Short tibia, Hand polydactyly, Camptodactyly, Toe syndactyly |
OMIM:258865 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Pes cavus, Hyperbilirubinemia |
ORPHA:101009 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Unconjugated hyperbilirubinemia, Elevated transferrin saturation, Increased circulating ferritin ... |
ORPHA:766 |
Megaloblastic Anemia, Folate-Responsive |
|
Hyperbilirubinemia, Hyperhomocystinemia, Increased circulating ferritin concentration |
OMIM:601775 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Bachmann-Bupp Syndrome |
|
Hyperbilirubinemia, Attention deficit hyperactivity disorder, Clinodactyly of the 5th finger |
OMIM:619075 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Patellar hypoplasia, Preaxial foot polydactyly, Absent tibia, Popliteal pterygium, Mirror image f... |
OMIM:119800 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Athetosis, Dystonia, Ataxia |
ORPHA:382 |
Atelosteogenesis Type Iii |
|
Short tibia, Patellar dislocation, Vertebral hypoplasia, Short tubular bones of the hand, Microgn... |
ORPHA:56305 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal guttata, Corneal stromal edema, Abnormal Descemet membrane morphology, Keratitis, Corneal... |
OMIM:613270 |
Metaphyseal Acroscyphodysplasia |
|
Short phalanx of finger, Short toe, Genu varum, Metaphyseal cupping, Coxa valga, Short metacarpal... |
OMIM:250215 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Increased total bilirubin, Knee flexion contracture, Tapered finger, Decreased plasma free carnit... |
OMIM:608836 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Astigmatism, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:619927 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Synostosis of carpal bones, Ulnar deviation of finger, Hypoplasia of the ulna, Abnormal morpholog... |
ORPHA:2634 |
Dyggve-Melchior-Clausen Disease |
|
Hypoplastic acetabulae, Inability to walk, Difficulty walking, Abnormality of the ankle, Genu val... |
ORPHA:239 |
Bent Bone Dysplasia Syndrome 2 |
|
Short tibia, Short sternum, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... |
OMIM:620076 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Hyperbilirubinemia, Increased serum bile acid concentration, Opisthotonus |
OMIM:619685 |
Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia |
OMIM:619232 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Brachydactyly, Fibular apl... |
OMIM:113310 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Hypertriglyceridemia, Hyperbilirubinemia, Increased circulating ferritin concentration, Elevated ... |
ORPHA:158057 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Hyperbilirubinemia, Narrow foot, Elevated circulating creatine kinase concent... |
OMIM:614300 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Short phalanx of finger, Hypoplastic iliac wing, Metaphyseal irregularity, Short ribs, Foot polyd... |
OMIM:208500 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
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Hyperbilirubinemia, Polyphagia |
OMIM:609734 |
Abetalipoproteinemia |
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Gait ataxia, Decreased LDL cholesterol concentration, Hyperbilirubinemia, Keratoconjunctivitis si... |
ORPHA:14 |
Amoebic Keratitis |
|
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... |
ORPHA:67043 |
Wolcott-Rallison Syndrome |
|
Hyperbilirubinemia, Hyperammonemia, Difficulty walking, Hyponatremia, Metaphyseal dysplasia, Hypo... |
ORPHA:1667 |
Acromesomelic Dysplasia 3 |
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Aplasia of the proximal phalanx of the 2nd finger, Broad foot, Short phalanx of finger, Short toe... |
OMIM:609441 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
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Sensorineural hearing impairment, Brain atrophy, Abnormal auditory evoked potentials, Cerebral at... |
OMIM:619260 |
Limbal Stem Cell Deficiency |
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Opacification of the corneal epithelium, Generalized opacification of the cornea, Blepharospasm, ... |
ORPHA:171673 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Increased VLDL cholesterol concentration, Ataxia, Increased LDL choles... |
OMIM:267700 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
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Cone-shaped epiphysis, Postaxial polydactyly, Short ribs, Short long bone, Absent tibia, Short di... |
OMIM:613091 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
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Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
Corneal Endothelial Dystrophy |
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Increased corneal thickness, Corneal dystrophy, Abnormal Descemet membrane morphology, Opacificat... |
OMIM:217700 |
Femoral-Facial Syndrome |
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Aplasia/Hypoplasia of the tibia, Coxa vara, Micrognathia, Hip dysplasia, Preaxial foot polydactyl... |
ORPHA:1988 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
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Hyperactivity, Unsteady gait, Sandal gap, Blue irides |
OMIM:615516 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
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Genu varum, Genu valgum, Metaphyseal irregularity, Bulging epiphyses, Rickets of the lower limbs,... |
OMIM:600785 |
Carpenter Syndrome |
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Polydactyly, Genu valgum, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Syndactyl... |
ORPHA:65759 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
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Short tibia, Rhizomelia, Short ribs, Short long bone, Flat acetabular roof, Microretrognathia, Hy... |
OMIM:616300 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
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Corneal degeneration, Corneal guttata, Corneal dystrophy |
OMIM:610158 |
Pyruvate Carboxylase Deficiency |
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Hyperlysinemia, Hyperalaninemia, Tip-toe gait, Hypoglutaminemia, Hypertaurinemia, Ataxia, Neonata... |
ORPHA:3008 |
Omodysplasia 1 |
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Short tibia, Limited knee flexion/extension, Anterolateral radial head dislocation, Rhizomelia, M... |
OMIM:258315 |
Linear Verrucous Nevus Syndrome |
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Short metacarpal, Toe syndactyly, Hypophosphatemia, Iris coloboma, Abnormal cornea morphology, Ca... |
ORPHA:2611 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
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Abnormal auditory evoked potentials, Optic disc pallor |
OMIM:617523 |
Anterior Segment Dysgenesis 7 |
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Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
Faciocardiomelic Dysplasia, Lethal |
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Short 5th finger, Hypoplasia of the radius, Micrognathia, Hypoplasia of the ulna, Talipes, Short ... |
OMIM:227270 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
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Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Lethargy, Conjugated hyperbilirubinemia... |
OMIM:617156 |
Harderoporphyria |
|
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration |
OMIM:618892 |
Glycogen Storage Disease Vii |
|
Increased total bilirubin, Hyperuricemia |
OMIM:232800 |
Acrodysostosis 2 With Or Without Hormone Resistance |
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Short phalanx of finger, Hyperactivity, Advanced ossification of carpal bones, Short metacarpal, ... |
OMIM:614613 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Developmental cataract, Contracture of the proximal interphalangeal joint of the 5... |
OMIM:620141 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
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Hyperactivity, Iris hypopigmentation, Ataxia, Polyphagia, Broad-based gait |
ORPHA:411515 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Abnormal serum bile acid concentration, Hyperbilirubinemia, Conjugated hyperbilirubinemia |
ORPHA:79303 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
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Inability to walk, Hyperkalemia, Ataxia, Cataract, Nuclear cataract, Conjugated hyperbilirubinemia |
OMIM:608885 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
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Gait ataxia, Hyperactivity, Inability to walk, Impulsivity, Dysphagia, Dystonia |
ORPHA:500180 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
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Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia |
ORPHA:95715 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
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Micrognathia, Increased circulating very long-chain fatty acid concentration, Posterior embryotox... |
OMIM:614887 |
Cornea Plana 2, Autosomal Recessive |
|
Corneal arcus, Corneal opacity, Decreased corneal thickness, Flat cornea, Sclerocornea |
OMIM:217300 |
Wilson Disease |
|
Pedal edema, Limb dystonia, Decreased circulating ceruloplasmin concentration, Increased circulat... |
OMIM:277900 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Delayed proximal femoral epiphyseal ossification, Abnormal circulating thyroglobulin level, Neona... |
ORPHA:90674 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Shuffling gait, Resting tremor, Tremor, Broad-based gait |
ORPHA:3077 |
Spherocytosis, Type 4 |
|
Hyperbilirubinemia |
OMIM:612653 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... |
OMIM:122000 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia |
OMIM:301083 |
Fibular Dimelia-Diplopodia Syndrome |
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Absent tibia |
ORPHA:1757 |
Intrahepatic Cholestasis Of Pregnancy |
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Hyperbilirubinemia, Tremor, Increased serum bile acid concentration |
ORPHA:69665 |
Generalized Eruptive Keratoacanthoma |
|
Conjunctivitis, Abnormal cornea morphology, Keratoconjunctivitis sicca, Dysphagia |
ORPHA:411777 |
Bile Acid Synthesis Defect, Congenital, 4 |
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Hyperbilirubinemia, Decreased serum bile acid concentration |
OMIM:214950 |
Myopathy With Extrapyramidal Signs |
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Hyperlysinemia, Hyperactivity, Calf muscle hypertrophy, Choreoathetosis, Ataxia, Elevated circula... |
OMIM:615673 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Shoulder dislocation, Genu varum, Aplasia/Hypoplasia of the thumb, Asymmetric radial dysplasia, R... |
OMIM:171480 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
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Brushfield spots, Elevated circulating phytanic acid concentration, Micrognathia, Increased circu... |
OMIM:614866 |
Chronic Bilirubin Encephalopathy |
|
Abnormal conjunctiva morphology, Conjunctival icterus, Neonatal hyperbilirubinemia, Hypernatremia... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Abnormal conjunctiva morphology, Conjunctival icterus, Neonatal hyperbilirubinemia, Hypernatremia... |
ORPHA:529799 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia, Increased circulat... |
ORPHA:90673 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:605479 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Hyperbilirubinemia, Increased total iron binding capacity, Increased serum iron |
ORPHA:98870 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Conjugated hyperbilirubinemia, Elevated hepatic iro... |
OMIM:616860 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hyperbilirubinemia |
OMIM:235555 |
Granular Corneal Dystrophy Type I |
|
Central corneal dystrophy, Abnormal corneal epithelium morphology, Central opacification of the c... |
ORPHA:98962 |
Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Coxa valga, Patellar dislocation, Finger syndactyly, Tibial torsion, Micrognathia, Hi... |
ORPHA:3320 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Zonular cataract, Ataxia, Cataract, Brachydactyly, Conjugated hyperbilirubinemia |
ORPHA:168577 |
Liver Failure, Infantile, Transient |
|
Hyperbilirubinemia, Hypoalbuminemia |
OMIM:613070 |
Spherocytosis, Type 1 |
|
Hyperbilirubinemia |
OMIM:182900 |
Spherocytosis, Type 2 |
|
Hyperbilirubinemia |
OMIM:616649 |
Lathosterolosis |
|
Abnormal circulating cholesterol concentration, Toe syndactyly, Micrognathia, Hyperbilirubinemia,... |
OMIM:607330 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration |
OMIM:614886 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
ORPHA:234 |
Acromelic Frontonasal Dysostosis |
|
Short tibia, Polydactyly, Patellar hypoplasia, Preaxial foot polydactyly, Syndactyly, Preaxial po... |
OMIM:603671 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Neurotrophic Keratopathy |
|
Corneal scarring, Allodynia, Corneal stromal edema, Astigmatism, Corneal perforation, Recurrent c... |
ORPHA:137596 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90037 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Hyperbilirubinemia |
OMIM:235700 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hyperammonemia, Conjugated hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:617049 |
Orofaciodigital Syndrome Type 2 |
|
Short tibia, Broad first metatarsal, Mesomelic leg shortening, Finger syndactyly, Micrognathia, P... |
ORPHA:2751 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hyperbilirubinemia |
ORPHA:79302 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia |
OMIM:619484 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short tibia, Coxa valga, Micrognathia, Epiphyseal stippling, Camptodactyly, Metatarsus adductus, ... |
ORPHA:96334 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Talipes calcaneovalgus, Conjugated hyperbilirubinemia, Hip dysplasia |
OMIM:613404 |
Microphthalmia With Limb Anomalies |
|
Foot oligodactyly, Capitate-hamate fusion, 2-5 toe syndactyly, Toe syndactyly, Hip dislocation, M... |
OMIM:206920 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Ataxia, Increased circulating ferritin concentration, Hypoproteinemia,... |
OMIM:603553 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hypercholesterolemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia, Ele... |
OMIM:619662 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short tibia, Hypoplastic pubic bone, Short ribs, Short long bone, Micrognathia, Preaxial polydact... |
OMIM:617925 |
Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia |
OMIM:268150 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Hyperactivity, Genu valgum, Tip-toe gait, Falls, Hyperbilirubinemia, Torticollis, Agitation, Atax... |
OMIM:619475 |
Overhydrated Hereditary Stomatocytosis |
|
Hyperbilirubinemia |
OMIM:185000 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hip subluxation, Mydriasis, Micrognathia, Hyperbilirubinemia, Flared metaphysis, Hypocalcemia |
OMIM:259720 |
Hepatoportal Sclerosis |
|
Hyperbilirubinemia, Hypoalbuminemia |
ORPHA:64743 |
Citrullinemia Type Ii |
|
Hyperactivity, Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Tr... |
ORPHA:247585 |
Anterior Segment Dysgenesis 2 |
|
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... |
OMIM:610256 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Disproportionate shortening of the tibia, Preaxial hand polydactyly, Short ribs, Short long bone,... |
OMIM:263520 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
2-3 toe syndactyly, Short 5th finger, Bulbous tips of toes, Hyperextensibility of the finger join... |
ORPHA:163979 |
Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia |
OMIM:130600 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Micrognathia, Hip dysplasia, Conjugated hyperbilirubinemia, Talipes calcaneovalgus |
OMIM:208085 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micrognathia, Hip dislocation, Short femur, Limb undergrowth, Bifid first metacarpal, Delayed epi... |
OMIM:210710 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hyperbilirubinemia |
OMIM:616689 |
Anterior Segment Dysgenesis 6 |
|
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... |
OMIM:617315 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90036 |
Vernal Keratoconjunctivitis |
|
Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate keratitis, Corneal neovascu... |
ORPHA:70476 |
Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... |
ORPHA:206443 |
Relapsing Fever |
|
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... |
ORPHA:91547 |
Saul-Wilson Syndrome |
|
Coxa valga, Short metacarpal, Enlarged epiphyses, Micrognathia, Hypoplasia of the odontoid proces... |
OMIM:618150 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Gait ataxia, Talipes calcaneovalgus, Hyperactivity, Dysdiadochokinesis, Impulsivity, Dysmetria, D... |
OMIM:610217 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Diffuse cerebral atrophy, Vestibular areflexia |
ORPHA:3240 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia |
OMIM:211600 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Syndactyly, Hyperbilirubinemia |
OMIM:224120 |
Fibrochondrogenesis 1 |
|
Megalocornea, Dumbbell-shaped long bone, Short foot, Rhizomelia, Short ribs, Short long bone, Sma... |
OMIM:228520 |
Sickle Cell Anemia |
|
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration |
ORPHA:232 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Gait imbalance, Limitation of movement at ankles, Iris hypopigmentation, Ataxia, T... |
ORPHA:98794 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:601847 |
Eiken Syndrome |
|
Broad femoral neck, Pseudoepiphyses, Long hallux, Narrow pelvis bone, Flat acetabular roof, Clino... |
OMIM:600002 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hyperbilirubinemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:251880 |
Hereditary Spherocytosis |
|
Hyperbilirubinemia, Ataxia |
ORPHA:822 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hypocholesterolemia, Conjugated hyperbilirubinemia |
OMIM:607765 |
Lissencephaly Due To Lis1 Mutation |
|
Opisthotonus, Neonatal hyperbilirubinemia |
ORPHA:95232 |
Hereditary Elliptocytosis |
|
Hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:288 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito... |
ORPHA:99027 |
Arthrogryposis, Distal, Type 2A |
|
Cerebellar atrophy, Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Atelosteogenesis, Type I |
|
Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Limb undergrowth, Knee di... |
OMIM:108720 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia |
OMIM:266200 |
Dehydrated Hereditary Stomatocytosis |
|
Increased total bilirubin, Increased circulating ferritin concentration, Neonatal hyperbilirubine... |
ORPHA:3202 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hyperbilirubinemia |
OMIM:613812 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia |
ORPHA:348 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Reduced haptoglobin level |
OMIM:613673 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Hyperactivity, Corneal scarring, Keratitis, Opacification of the corneal stroma, Recurrent cornea... |
OMIM:256800 |
Fumarase Deficiency |
|
Hyperbilirubinemia |
OMIM:606812 |
Charcot-Marie-Tooth Disease Type 1F |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Cervical spinal cord atrop... |
ORPHA:101085 |
X-Linked Intellectual Disability, Cabezas Type |
|
Camptodactyly of finger, Hyperactivity, Short foot, Small hand, Toe syndactyly, Clinodactyly of t... |
ORPHA:85293 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Ataxia, Abnormal circulating creatine concentration, Athetosis, Dystonia |
ORPHA:52503 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Radioulnar synostosis, Microretrognathia, Abnormal pelvic girdle bone morpholo... |
ORPHA:1788 |
Kyphomelic Dysplasia |
|
Short metacarpal, Micrognathia, Radial bowing, Flat acetabular roof, Pterygium, Ulnar bowing, Sho... |
OMIM:211350 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
Pearson Marrow-Pancreas Syndrome |
|
Hyperbilirubinemia, Lethargy, Punctate keratitis |
OMIM:557000 |
Infantile Krabbe Disease |
|
Optic atrophy, Diffuse cerebral atrophy, Decreased nerve conduction velocity, Prolonged brainstem... |
ORPHA:206436 |
Orofaciodigital Syndrome X |
|
Hand oligodactyly, Coalescence of tarsal bones, Preaxial hand polydactyly, Fibular aplasia |
OMIM:165590 |
Acro-Renal-Mandibular Syndrome |
|
Finger syndactyly, Hypoplasia of the radius, Micrognathia, Hip dislocation, Hypoplasia of the uln... |
ORPHA:958 |
Occipital Horn Syndrome |
|
Genu valgum, Humerus varus, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Apla... |
ORPHA:198 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hyperbilirubinemia, Hip contracture, Osteolysis involving bones of the upper limbs, Osteolysis in... |
ORPHA:464321 |
X-Linked Intellectual Disability, Nascimento Type |
|
Clubbing of toes, Developmental cataract, Pes cavus, Overlapping toe, Neonatal hyperbilirubinemia... |
ORPHA:163956 |
Graft Versus Host Disease |
|
Hyperbilirubinemia |
ORPHA:39812 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short phalanx of finger, Absent thumb, Coxa valga, Patellar dislocation, Micrognathia, Hip disloc... |
OMIM:274000 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Abnormal autonomic nervous... |
OMIM:609136 |
Cystic Echinococcosis |
|
Hyperbilirubinemia |
ORPHA:400 |
Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
Glycogen Storage Disease Xii |
|
Reduced haptoglobin level, Hyperbilirubinemia, Elevated circulating creatine kinase concentration |
OMIM:611881 |
Cranioectodermal Dysplasia 2 |
|
Polydactyly, Rhizomelia, Short ribs, Micrognathia, Hyperbilirubinemia, Clinodactyly, Syndactyly, ... |
OMIM:613610 |
Rh Deficiency Syndrome |
|
Reduced haptoglobin level, Hyperbilirubinemia |
ORPHA:71275 |
Senior-Boichis Syndrome |
|
Increased total bilirubin, Attention deficit hyperactivity disorder, Agitation, Polydipsia |
ORPHA:84081 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Hyperbilirubinemia |
OMIM:613986 |
Ogden Syndrome |
|
Metatarsus valgus, Micrognathia, Hyperbilirubinemia, Torticollis, Clinodactyly of the 5th finger,... |
OMIM:300855 |
Omodysplasia 2 |
|
Rhizomelic arm shortening, Broad femoral neck, Short 1st metacarpal, Micrognathia, Clinodactyly o... |
OMIM:164745 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level in blood |
OMIM:300908 |
Mitchell-Riley Syndrome |
|
Hyperbilirubinemia |
OMIM:615710 |
Fructose Intolerance, Hereditary |
|
Hyperuricemia, Hypophosphatemia, Hyperbilirubinemia, Lethargy, Bicarbonaturia |
OMIM:229600 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Hyperbilirubinemia, Lethargy |
OMIM:218700 |
Degcags Syndrome |
|
Polydactyly, Genu valgum, Preaxial hand polydactyly, Toe syndactyly, Choking episodes, Hyperbilir... |
OMIM:619488 |
Autoimmune Hepatitis |
|
Increased total bilirubin |
ORPHA:2137 |
Hepatocellular Carcinoma |
|
Pedal edema, Hypokalemia, Hyperbilirubinemia, Hypercalcemia, Hyponatremia, Hypoalbuminemia |
ORPHA:88673 |
Trisomy 10P |
|
Macrotia, Low voltage EEG, Simplified gyral pattern, Abnormal auditory evoked potentials, Abnorma... |
ORPHA:171929 |
Caroli Syndrome |
|
Hyperbilirubinemia, Conjunctival icterus, Conjugated hyperbilirubinemia |
ORPHA:480520 |
Cockayne Syndrome Type 1 |
|
Macrotia, Abnormality of peripheral nerve conduction, Optic atrophy, Absent brainstem auditory re... |
ORPHA:90321 |
Phocomelia, Schinzel Type |
|
Foot oligodactyly, Humeroradial synostosis, Hypoplasia of the radius, Micrognathia, Radial bowing... |
ORPHA:2879 |
Caroli Disease |
|
Conjunctival icterus, Abnormal circulating alpha-fetoprotein concentration, Conjugated hyperbilir... |
ORPHA:53035 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy |
ORPHA:79330 |
Acrorenal-Mandibular Syndrome |
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Toe syndactyly, Micrognathia, Foot polydactyly, Hypoplasia of the radius, Hand polydactyly, Hip d... |
OMIM:200980 |
Primary Biliary Cholangitis |
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Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia |
ORPHA:186 |
Mirizzi Syndrome |
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Hyperbilirubinemia |
ORPHA:521219 |
Campomelic Dysplasia |
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11 pairs of ribs, Short long bone, Micrognathia, Hypoplastic inferior ilia, Hip dislocation, Femo... |
ORPHA:140 |
Paroxysmal Nocturnal Hemoglobinuria |
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Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Decreased serum iron, Conjunctival ic... |
ORPHA:447 |
Cerebrotendinous Xanthomatosis |
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Global brain atrophy, Abnormality of somatosensory evoked potentials, Optic atrophy, Abnormal aud... |
ORPHA:909 |
Acromelic Frontonasal Dysplasia |
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Preaxial foot polydactyly, Patellar hypoplasia, Aplasia/Hypoplasia of the tibia, Talipes equinovarus |
ORPHA:1827 |
Parenteral Nutrition-Associated Cholestasis |
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Hyperlipidemia, Abnormal circulating fatty-acid concentration, Conjugated hyperbilirubinemia |
ORPHA:567983 |
Schneckenbecken Dysplasia |
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Dumbbell-shaped long bone, Hypoplastic ilia, Short ribs, Diaphyseal thickening, Increased fibular... |
ORPHA:3144 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
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Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypokalemia, Hypo... |
ORPHA:90038 |
Congenital Erythropoietic Porphyria |
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Reduced haptoglobin level, Abnormal circulating porphyrin concentration, Keratoconjunctivitis, Un... |
ORPHA:79277 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
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Hyperbilirubinemia |
ORPHA:562639 |
Hydrolethalus Syndrome 1 |
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Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Proximal tibial hypoplasia, Dupl... |
OMIM:236680 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Unconjugated hyperbilirubinemia, Dystonia |
OMIM:618278 |
Campomelic Dysplasia |
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Short phalanx of finger, Hallux valgus, Micrognathia, Hip dislocation, Metatarsus adductus, Dislo... |
OMIM:114290 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Humeroradial synostosis, Aplasia/hypoplasia of the femur, Hip dislocation, Phocomelia, Aplasia/Hy... |
OMIM:276820 |
Acrodysostosis With Multiple Hormone Resistance |
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Short phalanx of finger, Short toe, Hyperactivity, Hyperphosphatemia, Short metacarpal, Absent/hy... |
ORPHA:280651 |
Liver Disease, Severe Congenital |
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Hyperalaninemia, Elevated hepatic iron concentration, Hyperbilirubinemia, Micrognathia, Elevated ... |
OMIM:619991 |
Cockayne Syndrome A |
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Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Decreased n... |
OMIM:216400 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Broad first metatarsal, Polydactyly, Hyperbilirubinemia, Syndactyly, Increased circulating ferrit... |
OMIM:619534 |
Isolated Biliary Atresia |
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Conjugated hyperbilirubinemia |
ORPHA:30391 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Hyperactivity, Blepharospasm, Akinesia, Abnormal foot morphology, Choreoathetosis, Gait disturban... |
OMIM:234200 |
Cockayne Syndrome B |
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Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Decreased n... |
OMIM:133540 |
Reynolds Syndrome |
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Hyperbilirubinemia, Calcinosis |
OMIM:613471 |
Otopalatodigital Syndrome, Type Ii |
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Toe syndactyly, Micrognathia, Broad hallux, Short hallux, Postaxial hand polydactyly, Rocker bott... |
OMIM:304120 |
Argininemia |
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Hyperactivity, Hyperammonemia, Hyperargininemia, Spastic gait |
OMIM:207800 |
Familial Gestational Hyperthyroidism |
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Hyperactivity, Hand tremor, Agitation |
ORPHA:99819 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
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Gait ataxia, Hyperactivity, Micrognathia, 2-4 toe cutaneous syndactyly, Hand tremor, Ataxia, 2-3 ... |
OMIM:614756 |
Hardikar Syndrome |
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Hyperbilirubinemia |
OMIM:301068 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Unconjugated hyperbilirubinemia, Hypocalcemia, Hypoalbuminemia |
OMIM:613658 |
Mend Syndrome |
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Abnormal auditory evoked potentials, Low-set ears |
ORPHA:401973 |
Charge Syndrome |
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Hand monodactyly, Short thumb, Micrognathia, Absent tibia, Hand polydactyly, Bifid femur, Down-sl... |
OMIM:214800 |
Yellow Fever |
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Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated circulating creatine ... |
ORPHA:99829 |
Cranioectodermal Dysplasia 1 |
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Short toe, Rhizomelia, Short ribs, Clinodactyly, Short humerus, Radial deviation of finger, Flatt... |
OMIM:218330 |
Orofaciodigital Syndrome Type 4 |
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Camptodactyly of finger, Genu varum, Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, ... |
ORPHA:2753 |
Congenital Disorder Of Glycosylation, Type Iim |
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Neonatal hyperbilirubinemia |
OMIM:300896 |