Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... |
OMIM:112910 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... |
OMIM:249700 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia |
OMIM:619175 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Tibial Torsion, Bilateral Medial |
|
Bowing of the legs, Tibial torsion |
OMIM:188800 |
Blount Disease |
|
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... |
ORPHA:2768 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Fibular aplasia, Mesomelia, Shor... |
OMIM:605274 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Papular Xanthoma |
|
Hyperlipidemia |
ORPHA:158008 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia |
OMIM:246650 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Talipes equinovarus, Abnormal auditory e... |
OMIM:601382 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia |
OMIM:610947 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Cupped ear, Hand monodacty... |
OMIM:119100 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
OMIM:616516 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Posteriorly rotated ears, Micrognathia, Fibular hypoplasia, Ta... |
OMIM:201170 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:245900 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia |
OMIM:608898 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... |
ORPHA:85170 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... |
OMIM:228900 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia |
ORPHA:436182 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... |
OMIM:258860 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Hypertriglyceridemia, Transient Infantile |
|
Hypertriglyceridemia |
OMIM:614480 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met... |
OMIM:156500 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia |
OMIM:615924 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal fingertip m... |
ORPHA:79106 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia |
ORPHA:71529 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... |
ORPHA:85188 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
Neutral Lipid Storage Disease With Myopathy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
OMIM:610717 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
Niemann-Pick Disease, Type B |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:607616 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... |
ORPHA:320401 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:618620 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... |
OMIM:617519 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Protruding ear, Clinodactyly of the 5th finger, Short ... |
OMIM:268305 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Grant Syndrome |
|
Micrognathia, Down-sloping shoulders, Tibial bowing |
OMIM:138930 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... |
ORPHA:1106 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of the legs, Metaph... |
ORPHA:2502 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... |
ORPHA:2634 |
Slc35A2-Cdg |
|
Camptodactyly of finger, Coxa valga, Metatarsus adductus, Sensorineural hearing impairment, Hypsa... |
ORPHA:356961 |
Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia |
OMIM:177000 |
Osteosclerosis With Ichthyosis And Fractures |
|
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing |
OMIM:166740 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial synostosis, For... |
OMIM:251230 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... |
ORPHA:2378 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... |
ORPHA:2639 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... |
OMIM:602111 |
Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contracture, Short tibia, Short phalanx... |
OMIM:601559 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif... |
OMIM:600785 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:603552 |
Atelosteogenesis Type Iii |
|
Absent humerus, Epiphyseal stippling of the humerus, Short tubular bones of the hand, Abnormality... |
ORPHA:56305 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... |
OMIM:227270 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... |
OMIM:119800 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Tremor, Sensorineural hearing impairme... |
ORPHA:52368 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia |
OMIM:613877 |
Orofaciodigital Syndrome Ix |
|
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly |
OMIM:258865 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Rhizomelia, Sandal gap, Abnormal pinna morphology, Sensorineural hear... |
OMIM:607143 |
Immunodeficiency 109 With Lymphoproliferation |
|
Hypertriglyceridemia |
OMIM:620282 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda... |
OMIM:609945 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Tibial bowing, Femoral bowing, Nar... |
OMIM:608940 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:280356 |
Bent Bone Dysplasia Syndrome 2 |
|
Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Talipes ... |
OMIM:620076 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:613101 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Talipes cavus equinovar... |
OMIM:601455 |
Shox-Related Short Stature |
|
Micrognathia, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Lower limb undergrowth... |
ORPHA:314795 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:300635 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Conductive hearing impairment, Uln... |
OMIM:171480 |
Weismann-Netter Syndrome |
|
Fibular bowing, Squared iliac bones, Anterior tibial bowing, Lateral femoral bowing |
OMIM:112350 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Increased C-peptide level |
OMIM:615238 |
Femoral-Facial Syndrome |
|
Short femur, Micrognathia, Abnormal fibula morphology, Coxa vara, Abnormal pelvic girdle bone mor... |
ORPHA:1988 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... |
OMIM:164900 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia |
OMIM:608600 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Thrombocytopenia-Absent Radius Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the h... |
ORPHA:3320 |
Citrullinemia, Type Ii, Adult-Onset |
|
Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia |
OMIM:603471 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ... |
OMIM:616300 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615947 |
Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... |
OMIM:238600 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Hip dislocation, Abnormal auditory evoked potentials, Coxa valga |
OMIM:109120 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Micrognathia, Conductive hearing impairment, Short tibia, Adacty... |
ORPHA:2751 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi... |
ORPHA:1788 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Optic disc pallor, Broad finger |
OMIM:617523 |
Hyperekplexia-Epilepsy Syndrome |
|
EEG with temporal focal spikes, Exaggerated startle response |
ORPHA:163985 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:618398 |
Craniosynostosis With Fibular Aplasia |
|
Fibular aplasia |
OMIM:218550 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia |
ORPHA:329249 |
Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia |
OMIM:165590 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Sandal gap, Posteriorly rotated ears, Capitate-hamate fusion, 2-3 toe cutaneous s... |
OMIM:206920 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia |
OMIM:604367 |
Abcd Syndrome |
|
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... |
OMIM:600501 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Atelosteogenesis, Type Iii |
|
Radial bowing, Rhizomelia, Sandal gap, Micrognathia, Tombstone-shaped proximal phalanges, Widened... |
OMIM:108721 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short tibia, Short femur, Talipes equinovarus |
OMIM:620306 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Absent Achi... |
ORPHA:1215 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:79085 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Abnormal pinna morphology, Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic... |
OMIM:617925 |
Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Fibula... |
OMIM:258315 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:363400 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Optic nerve hypoplasia, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hyp... |
OMIM:603671 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
Caffey Disease |
|
Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs |
OMIM:114000 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ... |
ORPHA:158057 |
Dyggve-Melchior-Clausen Disease |
|
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow... |
OMIM:223800 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Micrognathia, Abnormality of the lower limb, Abnormal fi... |
ORPHA:3035 |
Arthrogryposis, Distal, Type 2A |
|
Hip contracture, Shoulder flexion contracture, Rocker bottom foot, Abnormal auditory evoked poten... |
OMIM:193700 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Posteriorly rotated ears, Overlapping toe, Ankle clonus, Low-set ears |
OMIM:618598 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy |
OMIM:616881 |
Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia |
OMIM:613027 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
Kniest Dysplasia |
|
Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Delayed epiphyseal ossification, Flared m... |
OMIM:156550 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Hearing impairment, Cox... |
OMIM:618150 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Irregular epiphyses, Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoke... |
OMIM:619260 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Bowing of the legs, Trapezoidal distal femoral condyles, Femoral bo... |
OMIM:307800 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hyperlipidemia |
OMIM:214900 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Micrognathia, Tibial bowing, Hypoplastic iliac wing, Short tibia, Small proximal tibial epiphyses... |
ORPHA:96334 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... |
OMIM:263520 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy, Absent Achilles reflex, Ankle clo... |
OMIM:609541 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
ORPHA:412 |
Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Posteriorly ... |
ORPHA:1427 |
Boomerang Dysplasia |
|
Absent radius, Hypoplastic iliac body, Fibular aplasia |
OMIM:112310 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ... |
ORPHA:85165 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Tremor, Decreased nerve conduction velocity, EEG ... |
ORPHA:206443 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:435651 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Proximal lower limb amyotrophy, Optic nerve hypoplasia, Decr... |
ORPHA:101085 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:278000 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Hearing i... |
OMIM:600383 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Rocker bottom foot, Micrognathia, Talipes equinovalgus, Multifocal epileptiform discharges, Tibia... |
ORPHA:453510 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation... |
OMIM:300106 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Absent brainstem auditory responses, Vestibular areflexia, Dystonia |
ORPHA:3240 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:435660 |
Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level |
ORPHA:528 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... |
ORPHA:158061 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619313 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... |
OMIM:108720 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hypertriglyceridemia |
OMIM:615381 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98855 |
Reni Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Ivory epiphyses, Brachydactyly, Radial bowing, Pseudoepiphyses of the metacarpals, Hypoplastic sc... |
OMIM:210720 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Elevated circulating creatine kinase concentration |
OMIM:232400 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia |
ORPHA:66628 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98863 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98853 |
Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:261 |
Mandibuloacral Dysplasia |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level |
ORPHA:2457 |
Acro-Renal-Mandibular Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapula... |
ORPHA:958 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed epiphyseal ossification... |
OMIM:600081 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:819 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia |
ORPHA:179494 |
Omodysplasia 2 |
|
Short humerus, Posteriorly rotated ears, Micrognathia, Fibular hypoplasia, Hypoplastic distal hum... |
OMIM:164745 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy, Hyporeflexia of lower limbs, Pes ... |
ORPHA:320406 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co... |
OMIM:615980 |
Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... |
OMIM:228520 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperuricemia |
ORPHA:79083 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing... |
OMIM:250220 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, EEG with generalized slow activity, Upper limb postural tremor, Abnormal... |
ORPHA:99027 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertriglyceridemia |
ORPHA:2348 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Hip contracture, Exaggerated startle response, Overlapping toe, Genu recurvatum, Hip dislocation,... |
OMIM:617301 |
Trisomy 10P |
|
Thumb contracture, Posteriorly rotated ears, Abnormal auditory evoked potentials, Micrognathia, E... |
ORPHA:171929 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Aplasia of the ulna, Micrognathia, ... |
ORPHA:2879 |
Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Hyperextensibility of the finger joints, Exaggerated startle r... |
ORPHA:521426 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia |
ORPHA:540 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Macrotia, Hypoplastic vertebral bodies, Flared iliac wing, Short lo... |
ORPHA:79255 |
Campomelic Dysplasia |
|
11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d... |
ORPHA:140 |
Cousin Syndrome |
|
Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger... |
OMIM:260660 |
Cerebrotendinous Xanthomatosis |
|
Resting tremor, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreas... |
ORPHA:909 |
Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619802 |
Seckel Syndrome 1 |
|
Ivory epiphyses, 11 pairs of ribs, Pes planus, Sandal gap, Abnormal finger flexion crease, Abnorm... |
OMIM:210600 |
Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:261476 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia |
OMIM:203800 |
Werner Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:277700 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Posteriorly rotated ears, Micrognat... |
OMIM:200980 |
Hyperekplexia 1 |
|
Exaggerated startle response, Hip dislocation |
OMIM:149400 |
Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Hypophosphatemia |
ORPHA:2088 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed epiphyseal ossification... |
OMIM:300554 |
Familial Chylomicronemia Syndrome |
|
Hyperlipidemia, Hypertriglyceridemia, Increased circulating chylomicron concentration |
ORPHA:444490 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Occipital Horn Syndrome |
|
Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h... |
ORPHA:198 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:79240 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... |
ORPHA:206436 |
Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... |
OMIM:277170 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Small earlobe, Short lower limbs, Underfolded helix, Posteriorly rotated ears, Lower limb asymmet... |
ORPHA:93315 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:264580 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... |
OMIM:274000 |
Mend Syndrome |
|
Overlapping toe, Broad hallux, Abnormal auditory evoked potentials, Micrognathia, Long fingers, 2... |
ORPHA:401973 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
OMIM:613327 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration |
ORPHA:98907 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hyperlipidemia |
ORPHA:369 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Hyperlipidemia |
ORPHA:2089 |
Acquired Generalized Lipodystrophy |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia |
ORPHA:79086 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Dystonia, O... |
ORPHA:79330 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Clinodactyly of the 5th finger, Exaggerated startle response, Tremor, Truncal titubation |
OMIM:618056 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of... |
OMIM:208500 |
Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Foot joint contracture, Tremor, Optic atrophy, Macrotia, Abn... |
ORPHA:90321 |
Hydrolethalus Syndrome 1 |
|
Abnormal pinna morphology, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, D... |
OMIM:236680 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Long ear, Aplasia/Hypop... |
OMIM:276820 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni... |
OMIM:609136 |
Seckel Syndrome 10 |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:617253 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hypertriglyceridemia |
OMIM:617591 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Hearing impairment |
OMIM:620114 |
Dent Disease 1 |
|
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed epiphyseal ossification... |
OMIM:300009 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
ORPHA:280365 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality, Pes cavus |
ORPHA:206448 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:151660 |
Campomelic Dysplasia |
|
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... |
OMIM:114290 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Posteriorly rotated ears, Rocker bottom foot, Postaxial polydactyly... |
OMIM:617527 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... |
ORPHA:90041 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Macrotia, Optic nerve hypoplasia, EEG with generalized slow activity |
OMIM:617864 |
Acromelic Frontonasal Dysplasia |
|
Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia |
ORPHA:1827 |
Cockayne Syndrome A |
|
Hip contracture, Abnormal pinna morphology, Abnormal auditory evoked potentials, Tremor, Decrease... |
OMIM:216400 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Tangier Disease |
|
Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Exaggerated startle response, Short femur, Tapered finger, EEG with generalized sl... |
OMIM:618367 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Optic nerve hypoplasia, Long foot, Micrognathia, Tremor, EEG with b... |
OMIM:615574 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia |
ORPHA:158048 |
Cockayne Syndrome B |
|
Abnormal pinna morphology, Abnormal auditory evoked potentials, Tremor, Decreased nerve conductio... |
OMIM:133540 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia |
ORPHA:275761 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia |
ORPHA:369837 |
H Syndrome |
|
Hypertriglyceridemia |
ORPHA:168569 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
ORPHA:309246 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response, Hearing impairment |
OMIM:620327 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Micrognathia, Short metatarsal, Tibial bowing, Femoral bowing, Conduc... |
OMIM:304120 |
Griscelli Syndrome Type 2 |
|
Hyperlipidemia |
ORPHA:79477 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia |
ORPHA:1414 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia |
ORPHA:79259 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia |
ORPHA:167 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Genu recurvatum, Tibial bowing, Knee dislocation, Shoulder dislocation, Short phalanx of finger, ... |
OMIM:143095 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hypertriglyceridemia |
ORPHA:536532 |
Melnick-Needles Syndrome |
|
Short humerus, Pes planus, Hypoplastic scapulae, Coxa valga, Micrognathia, Flared metaphysis, Hip... |
OMIM:309350 |
Tay-Sachs Disease |
|
Exaggerated startle response, Quadriceps muscle atrophy, Tremor, Optic atrophy, Ankle clonus, Dys... |
ORPHA:845 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Hyperglycerolemia |
OMIM:307030 |
Developmental And Epileptic Encephalopathy 49 |
|
EEG abnormality, Exaggerated startle response, Macrotia, Optic atrophy |
OMIM:617281 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Hypertriglyceridemia |
OMIM:619418 |
Osteogenesis Imperfecta, Type Viii |
|
Short metacarpal, Radial bowing, Femoral retroversion, Tibial bowing, Femoral bowing, Slender lon... |
OMIM:610915 |
Orofaciodigital Syndrome Type 4 |
|
Finger syndactyly, Microtia, third degree, Posteriorly rotated ears, Camptodactyly of finger, Mic... |
ORPHA:2753 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperlipidemia, Increased LDL chol... |
ORPHA:77293 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
External ear malformation, Exaggerated startle response, Dystonia |
ORPHA:438216 |
Neutral Lipid Storage Myopathy |
|
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration |
ORPHA:98908 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Osteopathia Striata With Cranial Sclerosis |
|
Paranasal sinus hypoplasia, Arachnodactyly, Facial palsy, Posteriorly rotated ears, Micrognathia,... |
OMIM:300373 |
Immunodeficiency 87 And Autoimmunity |
|
Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration |
OMIM:619573 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
Cranioectodermal Dysplasia 1 |
|
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Broad distal phalanges of all fingers, Short... |
OMIM:218330 |
Sandhoff Disease |
|
Exaggerated startle response, Orthostatic hypotension |
OMIM:268800 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
Alagille Syndrome 1 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:118450 |
Charge Syndrome |
|
Hypoplasia of the ulna, Mixed hearing impairment, Down-sloping shoulders, Facial palsy, Micrognat... |
OMIM:214800 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:619127 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:269700 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hypertriglyceridemia |
OMIM:608594 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Calf muscle hypertrophy, Exaggerated startle response, Optic atrophy |
OMIM:253800 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228308 |
Familial Multiple Lipomatosis |
|
Hyperlipidemia |
ORPHA:199276 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating C-reactive pr... |
OMIM:256040 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased circulating cortisol level, Hyperaldosteronism, Paradoxical increased cortisol secretio... |
ORPHA:189427 |
Kinsship Syndrome |
|
Pes planus, Coxa valga, Micrognathia, Hip dislocation, Fibular hypoplasia, Polydactyly, Low-set e... |
OMIM:619297 |
Aapoaiv Amyloidosis |
|
Hyperlipidemia, Elevated circulating creatinine concentration |
ORPHA:439232 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:606721 |
Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Abnormal pinna morphology, Micrognathia, Humeroradial synostosis... |
ORPHA:3404 |
Atypical Werner Syndrome |
|
Hypertriglyceridemia |
ORPHA:79474 |
Parenteral Nutrition-Associated Cholestasis |
|
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration |
ORPHA:567983 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Hyperlipidemia |
ORPHA:90154 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia |
OMIM:264090 |
Glycogen Storage Disease Ia |
|
Xanthelasma, Hyperlipidemia, Hyperuricemia |
OMIM:232200 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Low-set, posteriorly rotated ears, Mixed hearing impairment, Hearing impairment, Micrognathia, Se... |
ORPHA:444077 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Broad toe, Exaggerated startle response, Posteriorly rotated ears, Tapered finger, Short thumb, S... |
OMIM:619522 |
Glycogen Storage Disease Ib |
|
Xanthelasma, Hyperlipidemia, Hyperuricemia |
OMIM:232220 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia |
ORPHA:3455 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Glycogen Storage Disease Ic |
|
Xanthelasma, Hyperlipidemia, Hyperuricemia |
OMIM:232240 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hyperlipidemia, Elevated circulating creatine kinase concentration |
ORPHA:565612 |
Aromatase Deficiency |
|
Hyperlipidemia |
ORPHA:91 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Hip dysplasia, Exaggerated startle response, Dystonia |
ORPHA:438213 |
Woodhouse-Sakati Syndrome |
|
Hyperlipidemia |
OMIM:241080 |
Alström Syndrome |
|
Hyperlipidemia, Hypertriglyceridemia |
ORPHA:64 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |