Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Ataxia, Pes cavus, Steppage gait, Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Gait ataxia, Cognitive impairment, Truncal ataxia, Limb ataxia, Ataxia, Elevated circulating crea... |
OMIM:208920 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Ataxia, Pes cavus, Steppage gait, Distal lower limb muscle weakness, Hypercholesterolemia, Hypoal... |
ORPHA:94124 |
Citrullinemia Type Ii |
|
Hyperactivity, Memory impairment, Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholestero... |
ORPHA:247585 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... |
OMIM:620058 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy, Hypermethioninemia, Increased circulating creatine kinase MM isoform, Hypoalbumin... |
OMIM:613752 |
Alg6-Cdg |
|
Decreased LDL cholesterol concentration, Rod-cone dystrophy, Shortening of all distal phalanges o... |
ORPHA:79320 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia, Clinodactyly of the 5th finger, Chorioretinal coloboma |
ORPHA:1116 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Craniosynostosis, Hypoalbuminemia |
ORPHA:88643 |
Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... |
OMIM:607778 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Gait imbalance, Postural tremor, Choreoathetosis, Ataxia, Elevated circulat... |
ORPHA:64753 |
Immunodeficiency 43 |
|
Radial bowing, Hypoplasia of the ulna, Hypoproteinemia, Decreased circulating beta-2-microglobuli... |
OMIM:241600 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... |
OMIM:616000 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia, Pedal edema, Stillbirth |
OMIM:152800 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Conjuga... |
OMIM:619868 |
Fibular Hemimelia |
|
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... |
ORPHA:93323 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia, Sensorineural hearing impairment |
OMIM:221400 |
Ataxia-Oculomotor Apraxia 4 |
|
Cognitive impairment, Ataxia, Elevated circulating alpha-fetoprotein concentration, Hypercholeste... |
OMIM:616267 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Hypsarrhythmia, Micrognathia, Clinodactyly of the 5th finger, Hypoproteinemia, Tremor |
OMIM:608093 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H... |
OMIM:246700 |
Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Hypoplas... |
OMIM:200700 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Increased VLDL cholesterol concentration, Ataxia, Increased LDL choles... |
OMIM:267700 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Absent o... |
OMIM:601376 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Intention tremor, Osteopenia, Erlenmeyer flask deformity of the femurs |
OMIM:610539 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, L... |
OMIM:118651 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Primary Membranoproliferative Glomerulonephritis |
|
Drusen, Hypoalbuminemia |
ORPHA:54370 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Slc35A2-Cdg |
|
Short tibia, Hip subluxation, Camptodactyly of finger, Sensorineural hearing impairment, Coxa val... |
ORPHA:356961 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Patent foramen ovale, Increased circulating free fatty acid level, Vent... |
ORPHA:26793 |
Syndactyly Type 4 |
|
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... |
ORPHA:93405 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Congenital Analbuminemia |
|
Pedal edema, Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hyp... |
ORPHA:86816 |
Acromesomelic Dysplasia 2C |
|
Short tibia, Short foot, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip disloc... |
OMIM:201250 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
Refractory Celiac Disease |
|
Hypophosphatemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Osteoporosis, Hypoalbuminemia |
ORPHA:398063 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Osebold-Remondini Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Hyp... |
OMIM:112910 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Nephrotic Syndrome, Type 11 |
|
Arachnodactyly, Ventricular septal defect, Micrognathia, Clinodactyly, Dilated cardiomyopathy, Pa... |
OMIM:616730 |
Johanson-Blizzard Syndrome |
|
Sensorineural hearing impairment, Abnormal cardiac septum morphology, Diabetes mellitus, Hypoprot... |
ORPHA:2315 |
Lethal Faciocardiomelic Dysplasia |
|
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Microretrognathia, Hyp... |
ORPHA:1972 |
Galloway-Mowat Syndrome 8 |
|
Hearing impairment, Hypoalbuminemia |
OMIM:618349 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Clubbing, Hypoproteinemia, Clubbing of fingers, Hypoalbuminemia |
OMIM:226300 |
Mohr-Tranebjaerg Syndrome |
|
Postlingual sensorineural hearing impairment, Ankle clonus, Sensorineural hearing impairment, Pre... |
ORPHA:52368 |
Acromesomelic Dysplasia, Grebe Type |
|
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... |
ORPHA:2098 |
Potocki-Lupski Syndrome |
|
Patent foramen ovale, Hyperactivity, EEG abnormality, Micrognathia, Atrial septal defect, Hypocho... |
OMIM:610883 |
Hyperlysinemia, Type I |
|
Hyperlysinemia, Hyperactivity, Cognitive impairment |
OMIM:238700 |
Léri-Weill Dyschondrosteosis |
|
Short tibia, Abnormal carpal morphology, Abnormal metaphysis morphology, Genu valgum, Abnormality... |
ORPHA:240 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Ataxia, Tremor, Mental deterioration, Hypertriglyceridemia, Dystonia |
OMIM:615924 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short tibia, Patent foramen ovale, Sensorineural hearing impairment, Rhizomelia, Short ribs, Hypo... |
OMIM:607143 |
Peroxisome Biogenesis Disorder 3B |
|
Rod-cone dystrophy, Sensorineural hearing impairment, Elevated circulating phytanic acid concentr... |
OMIM:266510 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Ataxia, Increased circulating ferritin concentration, Hypoproteinemia,... |
OMIM:603553 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
Leri-Weill Dyschondrosteosis |
|
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Hypoplasia ... |
OMIM:127300 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Dilated cardiomyopathy, Broad-based gait, Hypoalbuminemia |
OMIM:618805 |
Fibronectin Glomerulopathy |
|
Pedal edema, Hypoalbuminemia |
ORPHA:84090 |
Nephrotic Syndrome, Type 14 |
|
Sensorineural hearing impairment, Ataxia, Hypoglycemia, Mental deterioration, Hypertriglyceridemi... |
OMIM:617575 |
Squalene Synthase Deficiency |
|
Knee flexion contracture, 2-3 toe syndactyly, Macrotia, Decreased LDL cholesterol concentration, ... |
OMIM:618156 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Decreased LDL cholesterol concentration, Sensorineural hearing impairment, Rod-cone dystrophy, Sp... |
ORPHA:96180 |
Chédiak-Higashi Syndrome |
|
Cognitive impairment, Inability to walk, Pericardial effusion, Gait disturbance, Ataxia, Abnormal... |
ORPHA:167 |
Alg1-Cdg |
|
Cardiomyopathy, Abnormal heart morphology, Hypoalbuminemia |
ORPHA:79327 |
Primary Intestinal Lymphangiectasia |
|
Pericardial effusion, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia |
ORPHA:90362 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Clubbing, Hyperostosis, Periostosis, Hypoalbuminemia |
OMIM:614441 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Perimembranous ventricular septal defect, Camptodactyly, Low-set ears, Neonatal death, Elevated c... |
OMIM:608104 |
Galloway-Mowat Syndrome 6 |
|
Clinodactyly of the 5th finger, Hypoalbuminemia |
OMIM:618347 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Ventricular septal defect, Micrognathia, Hypoproteinemia, Postaxial hand polydactyly, Low-set ear... |
OMIM:235255 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Short Rib-Polydactyly Syndrome |
|
Short tibia, Polydactyly, Absent or minimally ossified vertebral bodies, Retinopathy, Abnormal pe... |
ORPHA:1505 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Arachnodactyly, Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... |
ORPHA:103910 |
Dengue Fever |
|
Hypoproteinemia |
ORPHA:99828 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased LDL cholesterol concentration, Rod-cone dystrophy, Retinal degeneration, Ataxia, Steato... |
OMIM:615558 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hypoplastic iliac wing, Hyperactivity, Conductive hearing impairment, Sensorineural hearing impai... |
OMIM:235510 |
Immunodeficiency 27A |
|
Hypoplasia of the femoral head, Hypoalbuminemia |
OMIM:209950 |
Hyperprolinemia, Type I |
|
Ataxia, Hyperactivity, Hyperprolinemia, EEG abnormality |
OMIM:239500 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Sensorineural hearing impairment, Optic atrophy, Chorioretinal hyperpigmentation... |
OMIM:618329 |
Langer Mesomelic Dysplasia |
|
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Micrognathia, Radial bowin... |
OMIM:249700 |
Abetalipoproteinemia |
|
Pes cavus, Hypopigmentation of the fundus, Steppage gait, Hypocholesterolemia, Talipes equinovaru... |
ORPHA:14 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:616050 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Impaired glucose tolerance, Type II diabetes mellitus, Osteoporosis, Increased LDL cholesterol co... |
OMIM:610947 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Ventricular septal defect, Micrognathia, Hypoproteinemia, Postaxial hand polydactyly, Low-set ear... |
ORPHA:1655 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Talipes equinovar... |
OMIM:601382 |
Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Neonatal insulin-dependent diabetes mellitus, Hyperbilirubinemia, ... |
ORPHA:1667 |
Alg12-Cdg |
|
Patent foramen ovale, Sensorineural hearing impairment, Abnormal bone ossification, Short long bo... |
ORPHA:79324 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Gait ataxia, Postural tremor, Mental deterioration, Action tremor, Dysphagia, Unsteady gait, Inte... |
OMIM:254900 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Cardiomyopathy, Hypoproteinemia, Dilated cardiomyopathy, Elevated circulating creatine kinase con... |
OMIM:615895 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Cardiomyopathy, Macrotia, Rod-cone dystrophy, Pericardial effusion, Ataxia, Steatorrhea, Pericard... |
OMIM:212065 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, EEG abnormality, Absent brainstem auditory responses, Choreoath... |
OMIM:617519 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Steatorrhea, Dysphagia |
ORPHA:2070 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypermethioninemia, Cardiomyopathy, Hyperhomocystinemia, Pes planus, Elevated circulating creatin... |
ORPHA:88618 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Sensorineural hearing impairment, Decreased circulating ceruloplasmin concentration, Decreased ci... |
OMIM:242150 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials, Ataxia |
ORPHA:99852 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
Mpi-Cdg |
|
Hyperinsulinemic hypoglycemia, Hypoalbuminemia |
ORPHA:79319 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Sensorineural hearing impairment, Abnormal retinal nerve fiber layer ... |
ORPHA:1215 |
Mucopolysaccharidosis-Plus Syndrome |
|
Inability to walk, Optic atrophy, Chorioretinal hypopigmentation, Flared iliac wing, Acetabular d... |
OMIM:617303 |
Nephrotic Syndrome, Type 8 |
|
Sensorineural hearing impairment, Hypoalbuminemia |
OMIM:615244 |
Acheiropody |
|
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Aplas... |
OMIM:200500 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Hyperinsulinemia, Fasting hypoglycemia, Diabetic ketoac... |
ORPHA:2298 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Neonatal hyperbilirubinemi... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Neonatal hyperbilirubinemi... |
ORPHA:529799 |
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 |
Al Amyloidosis |
|
Abnormal cardiac atrium morphology, Abnormal autonomic nervous system physiology, Increased circu... |
ORPHA:85443 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Polydactyly, Syndactyly |
OMIM:300484 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Short tibia, 11 pairs of ribs, Triphalangeal thumb, Micrognathia, Talipes equinovarus, Clinodacty... |
OMIM:201170 |
Wilson Disease |
|
Pedal edema, Osteomalacia, Glycosuria, Limb dystonia, Decreased circulating ceruloplasmin concent... |
OMIM:277900 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... |
ORPHA:567548 |
Stuve-Wiedemann Syndrome 1 |
|
Short tibia, Short phalanx of finger, Abnormal autonomic nervous system physiology, Micrognathia,... |
OMIM:601559 |
Leigh Syndrome With Nephrotic Syndrome |
|
EEG with focal spikes, Cardiomegaly, Hypoalbuminemia |
ORPHA:255249 |
Orofaciodigital Syndrome Type 10 |
|
Short tibia, Short toe, Mesomelic leg shortening, Micrognathia, Metatarsal synostosis, Oligodacty... |
ORPHA:2756 |
Tibial Hemimelia |
|
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... |
ORPHA:93322 |
Aicardi-Goutieres Syndrome 9 |
|
Optic atrophy, Pericardial effusion, Left ventricular hypertrophy, Pericarditis, Chorioretinal at... |
OMIM:619487 |
Late-Infantile/Juvenile Krabbe Disease |
|
Neuromuscular dysphagia, EEG with persistent abnormal rhythmic activity, Gait disturbance, Ataxia... |
ORPHA:206443 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Elevated circulating C-reactive protein concentration, Hypoalbuminemia |
OMIM:308240 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Steatorrhea, Hyperinsulinemic hypoglycemia, Hypoalbuminemia |
OMIM:602579 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Mitral valv... |
OMIM:616648 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal auditory evoked potentials, Gait disturbance, Progressive sensorineural h... |
OMIM:125250 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Fibular aplasia, Tibial bowing |
OMIM:246570 |
Glycine Encephalopathy |
|
Impulsivity, Hyperactivity, Restlessness, Hyperglycinemia |
OMIM:605899 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hyperthreoninemia, Hypergalactosemia, H... |
ORPHA:247598 |
Leishmaniasis |
|
Hypoalbuminemia |
ORPHA:507 |
Eiken Syndrome |
|
Short phalanx of finger, Broad foot, Short toe, Metaphyseal irregularity, Thin bony cortex, Abnor... |
ORPHA:79106 |
Omenn Syndrome |
|
Hypoproteinemia |
OMIM:603554 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito... |
ORPHA:320401 |
Optic Atrophy 11 |
|
Hyperactivity, Macrotia, Gait apraxia, Optic atrophy, EEG with focal sharp waves, Optic nerve hyp... |
OMIM:617302 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Macrotia, Optic atrophy, Clinodactyly |
OMIM:300928 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Gait ataxia, Hyperactivity, Hyperinsulinemia, Cognitive impairment, Limb dystonia, Insulin resist... |
ORPHA:363400 |
Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, Cutaneous ... |
OMIM:619217 |
Mesomelic Dysplasia, Savarirayan Type |
|
Short tibia, Abnormal foot morphology, Hip dislocation, Talipes equinovalgus, Dislocated radial h... |
OMIM:605274 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Neonatal hypoglycemia, Elevated circulating creatine kinase concentration, Hypoglycemia, Neonatal... |
OMIM:619055 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra... |
OMIM:616834 |
Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Elevated circulating C-reacti... |
ORPHA:158061 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Abnormal cardiomyocyte morphology, Dilated cardiomyopathy, Hypoalbuminemia |
ORPHA:367 |
Pierson Syndrome |
|
Retinal hemorrhage, Macular hypoplasia, Retinal vascular tortuosity, Hypopigmentation of the fund... |
OMIM:609049 |
Hepatoportal Sclerosis |
|
Hyperbilirubinemia, Cognitive impairment, Hypoalbuminemia |
ORPHA:64743 |
Myopathy With Extrapyramidal Signs |
|
Hyperlysinemia, Hyperactivity, Ventricular septal defect, Optic atrophy, Calf muscle hypertrophy,... |
OMIM:615673 |
Immunodeficiency 32B |
|
Hypoalbuminemia |
OMIM:226990 |
Microcephaly-Micromelia Syndrome |
|
Short tibia, Absent thumb, Humeroradial synostosis, Micrognathia, Missing ribs, Absent radius, Ol... |
OMIM:251230 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Retinal degeneration, Macu... |
OMIM:619260 |
Congenital Enterovirus Infection |
|
Pericardial effusion, Hyperammonemia, Hypoalbuminemia, Myocarditis, Cardiomyopathy |
ORPHA:292 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Hypsarrhythmia, Ataxia, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Choreoathetosis, Ataxia, Transient hyperphenylalaninemia, Tremor, Dystonia |
OMIM:612716 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Increased circulating ferritin concentration, Head titubatio... |
ORPHA:3240 |
Galloway-Mowat Syndrome 1 |
|
Macrotia, Optic atrophy, Micrognathia, Camptodactyly, Ataxia, Pes cavus, Slender finger, Low-set ... |
OMIM:251300 |
Landau-Kleffner Syndrome |
|
Gait ataxia, Hyperactivity, Social and occupational deterioration, EEG with generalized epileptif... |
ORPHA:98818 |
Liver Failure, Infantile, Transient |
|
Hyperbilirubinemia, Hypoalbuminemia |
OMIM:613070 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Sensorineural hearing impairm... |
ORPHA:540 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Sensorineural hearing impairment, Prelingual sensorineural hearing impairment, Mic... |
ORPHA:73272 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Abnormal circulating protein concentration, Retinal h... |
ORPHA:86839 |
Microphthalmia With Limb Anomalies |
|
Short tibia, Optic atrophy, Toe syndactyly, Micrognathia, Hip dislocation, Postaxial hand polydac... |
ORPHA:1106 |
Xfe Progeroid Syndrome |
|
Optic atrophy, Attenuation of retinal blood vessels, Pes cavus, Hearing impairment, Hypoalbuminemia |
OMIM:610965 |
Orofaciodigital Syndrome Iv |
|
Short tibia, Toe syndactyly, Micrognathia, Foot polydactyly, Short finger, Hand polydactyly, Clin... |
OMIM:258860 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Pericardial effusion, Micrognathia, Hyponatremia, Low-set ears, Hypocalcemia, Hypertriglyceridemi... |
OMIM:618183 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short phalanx of finger, Toe syndactyly, Micrognathia, Flared iliac wing, Aplasia/hypoplasia of t... |
OMIM:609945 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication |
OMIM:188740 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Falls, EEG abnormality, EEG with focal sharp slow waves, Mental deterioration |
ORPHA:2382 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia, Hypertrophic cardiomyopathy, Micrognathia, Neonatal death |
OMIM:618810 |
Orofaciodigital Syndrome Ix |
|
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly, Retinal coloboma |
OMIM:258865 |
Avian Influenza |
|
Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Elevated circulating crea... |
ORPHA:454836 |
Smith-Lemli-Opitz Syndrome |
|
Hip subluxation, 2-3 toe syndactyly, Micrognathia, Epiphyseal stippling, Hip dislocation, Metatar... |
OMIM:270400 |
Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Abnormal auditory evoked potentials, Pes cavus, Progressive psychomotor deteriorat... |
ORPHA:909 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Thin bony cortex, Broad tibial metaphyses, Increased bone mineral density, Broad femoral head, Fi... |
ORPHA:85188 |
Smith-Magenis Syndrome |
|
Hyperactivity, EEG abnormality, Retinal detachment, Brachydactyly, Abnormal heart morphology, Hyp... |
OMIM:182290 |
Liver Disease, Severe Congenital |
|
Subvalvular aortic stenosis, Patent foramen ovale, Hyperalaninemia, Dilatation of the ventricular... |
OMIM:619991 |
Trichohepatoenteric Syndrome 1 |
|
Hypermethioninemia, Abnormality of iron homeostasis, Ventricular septal defect, Avascular necrosi... |
OMIM:222470 |
Bent Bone Dysplasia Syndrome 2 |
|
Short tibia, Short sternum, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... |
OMIM:620076 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hyperbilirubinemia, Hypoalbuminemia, Hypoglycemia, Elevated circulating alpha-fetoprotein concent... |
OMIM:251880 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Pes cavus, Difficulty walking, Hammertoe, Abnormal cra... |
OMIM:601596 |
Rasmussen Subacute Encephalitis |
|
Hyperactivity, Cognitive impairment, Inability to walk, Increased theta frequency activity in EEG... |
ORPHA:1929 |
Acrocraniofacial Dysostosis |
|
Conductive hearing impairment, Sensorineural hearing impairment, Short first metatarsal, Short 1s... |
OMIM:201050 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Gait disturbance, Decreased nerve conduction velocity, Talip... |
OMIM:601455 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hypocholesterolemia, Rickets, Steatorrhea, Conjugated hyperbilirubinemia |
OMIM:607765 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased plasma carnitine, Decreased serum iron, Dilated cardiomyopathy, Dysphagia, Abnormal cir... |
ORPHA:89842 |
Charcot-Marie-Tooth Disease Type 1F |
|
Gait ataxia, Sensorineural hearing impairment, Cognitive impairment, Inability to walk, Absent br... |
ORPHA:101085 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Patent foramen ovale, Inability to walk, Optic atrophy, Atrial septal defect, Abnormality of reti... |
ORPHA:505248 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Abnormal auditory evoked potentials, Abnormal autonomic nervous system physiology, Action tremor,... |
ORPHA:99027 |
Dyschondrosteosis And Nephritis |
|
Short tibia, Radial bowing, Ulnar bowing, Short forearm |
OMIM:127350 |
Amoebiasis Due To Entamoeba Histolytica |
|
Abnormal pericardium morphology, Constrictive pericarditis, Hypoalbuminemia |
ORPHA:67 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Abnormality of the lower limb, Elevated circu... |
ORPHA:36234 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... |
ORPHA:1986 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Short tibia, Macrotia, Rhizomelia, Short ribs, Short long bone, Flat acetabular roof, Microretrog... |
OMIM:616300 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... |
ORPHA:3329 |
Galloway-Mowat Syndrome 3 |
|
Micrognathia, Hip dislocation, Camptodactyly, Arachnodactyly, Low-set ears, Hypoalbuminemia |
OMIM:617729 |
Mend Syndrome |
|
2-3 toe syndactyly, Hyperactivity, Abnormal auditory evoked potentials, Micrognathia, Hand polyda... |
ORPHA:401973 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Genu varum, Genu valgum, Metaphyseal irregularity, Thin bony cortex, Generalized bone demineraliz... |
OMIM:600785 |
Chylomicron Retention Disease |
|
Hypocholesterolemia, Retinopathy, Hypertriglyceridemia, Steatorrhea |
ORPHA:71 |
Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Coxa vara, Microtia, Micrognathia, Hip dysplasia, Maternal diabe... |
ORPHA:1988 |
Juvenile Polyposis Of Infancy |
|
Clubbing of fingers, Atrial septal defect, Broad thumb, Abnormal heart morphology, Midclavicular ... |
ORPHA:79076 |
Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Orthostatic hypotension, Osteoporosis, Conjugated hyper... |
ORPHA:186 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Continuous spike and waves during slow sleep, Hyperactivity, Impulsivity, Attention deficit hyper... |
OMIM:301008 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short tibia, Hypoplastic pubic bone, Microtia, Short ribs, Micrognathia, Short long bone, Narrow ... |
OMIM:617925 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Absent tibia, Camp... |
OMIM:612576 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Short tibia, Hip subluxation, Short phalanx of finger, Short 5th finger, Micrognathia, Hip disloc... |
OMIM:268305 |
Cln5 Disease |
|
Hyperactivity, Inability to walk, Dysdiadochokinesis, Truncal ataxia, EEG with focal spikes, Mult... |
ORPHA:228360 |
8p23.1 deletion syndrome |
|
Atrioventricular canal defect, Hyperactivity, Abnormal heart morphology, Atrial septal defect |
DECIPHER:39 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of central somatosensory evoked potentials, Dysdiadochokinesis, Gait disturbance, Ata... |
OMIM:277460 |
Gaisböck Syndrome |
|
Hyperuricemia, Increased circulating renin level, Diabetes mellitus, Hypercholesterolemia, Hyperp... |
ORPHA:90041 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubin... |
OMIM:617156 |
Juvenile Huntington Disease |
|
Gait ataxia, Hyperactivity, Ataxia, Dementia, Progressive cerebellar ataxia, Dystonia, Broad-base... |
ORPHA:248111 |
Secondary Intestinal Lymphangiectasia |
|
Decreased prealbumin level, Secondary hyperaldosteronism, Reduced circulating transferrin concent... |
ORPHA:90363 |
Kaufman Oculocerebrofacial Syndrome |
|
Ventricular septal defect, Micrognathia, Clinodactyly of the 5th finger, Atrial septal defect, Me... |
OMIM:244450 |
Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Exaggerated startle response, Ankle clonus, Memory impairmen... |
ORPHA:845 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Abnormal circulating calcium concentration, Trapezoidal distal femoral condyles, Genu valgum, Met... |
OMIM:307800 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Broad foot, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Ab... |
OMIM:135750 |
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 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short tibia, Coxa valga, Micrognathia, Epiphyseal stippling, Camptodactyly, Metatarsus adductus, ... |
ORPHA:96334 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hypertriglyceridemia, Hyperproteinemia, Increased circulating ferritin concentration, Ataxia |
ORPHA:158048 |
Juvenile Polyposis Syndrome |
|
Clubbing, Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Type I diabetes mellitus, Abnormal blood ion concentration, Hypocalce... |
ORPHA:37042 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Optic atrophy, Calf muscle hypertrophy, Dilated cardiomyopathy, Atr... |
OMIM:253800 |
Abcd Syndrome |
|
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Hypop... |
OMIM:600501 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Pedal edema, Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Adult Krabbe Disease |
|
EEG abnormality, Gait disturbance, Ataxia, Pes cavus, Progressive neurologic deterioration, Menta... |
ORPHA:206448 |
Cockayne Syndrome Type 1 |
|
Pigmentary retinopathy, Foot joint contracture, Macrotia, Abnormality of peripheral nerve conduct... |
ORPHA:90321 |
Hepatocellular Carcinoma |
|
Pedal edema, Type II diabetes mellitus, Hypokalemia, Hyperbilirubinemia, Hypoglycemia, Hypercalce... |
ORPHA:88673 |
Dubowitz Syndrome |
|
Hyperactivity, Rod-cone dystrophy, Micrognathia, Clinodactyly of the 5th finger, Pes planus, Synd... |
OMIM:223370 |
Multiple Myeloma |
|
Osteopenia, Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia |
ORPHA:29073 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Broad first metatarsal, Atrioventricular canal defect, Polydactyly, Unbalanced atrioventricular c... |
OMIM:619534 |
19P13.12 Microdeletion Syndrome |
|
Hyperactivity, Conductive hearing impairment, Sensorineural hearing impairment, Ventricular septa... |
ORPHA:254346 |
Infantile Neuroaxonal Dystrophy |
|
Hyperactivity, Abnormality of peripheral nerve conduction, Optic atrophy, Abnormal autonomic nerv... |
ORPHA:35069 |
Orofaciodigital Syndrome Type 2 |
|
Short tibia, Atrioventricular canal defect, Broad first metatarsal, Conductive hearing impairment... |
ORPHA:2751 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Disproportionate shortening of the tibia, Preaxial hand polydactyly, Ventricular septal defect, S... |
OMIM:263520 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short phalanx of finger, Hyperactivity, Advanced ossification of carpal bones, Short metacarpal, ... |
OMIM:614613 |
Acromelic Frontonasal Dysostosis |
|
Short tibia, Polydactyly, Patellar hypoplasia, Preaxial foot polydactyly, Optic nerve hypoplasia,... |
OMIM:603671 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Patellar aplasia, Hand monodactyly, Absent tibia, Split foot, Short hallux, Split hand, Aplasia o... |
OMIM:119100 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Thin bony cortex, Unconjugated hyperbilirubinemia, Rickets, Hypoglycemia, Osteopenia, Reduced bon... |
OMIM:613658 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
EEG with generalized slow activity grade 4, Hyperactivity, EEG with series of focal spikes, Inabi... |
ORPHA:168491 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Knee flexion contracture, Genu valgum, Rhizomelia, Micrognathia, Fragmented epiphyses, Epiphyseal... |
ORPHA:166016 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... |
ORPHA:2378 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Optic disc pallor, Broad finger |
OMIM:617523 |
Myoclonic-Astatic Epilepsy |
|
Hyperactivity, EEG with polyspike wave complexes, Interictal epileptiform activity, Ataxia, EEG w... |
ORPHA:1942 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Thin bony cortex, Metaphyseal irregularity, Bulging epiphyses, Osteomalacia, Hypophosphatemia, Ti... |
OMIM:300554 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Palmoplantar keratoderma, Craniosynostosis, Hypoalbuminemia |
ORPHA:79396 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Hyperactivity, Ankle clonus, Inability to walk, Decreased circulating cortisol level, Gait distur... |
ORPHA:139396 |
Omodysplasia 1 |
|
Short tibia, Limited knee flexion/extension, Anterolateral radial head dislocation, Ventricular s... |
OMIM:258315 |
Mody |
|
Transient neonatal diabetes mellitus, Retinopathy, Diabetic ketoacidosis, Glycosuria, Glucose int... |
ORPHA:552 |
Chromosome 2Q37 Deletion Syndrome |
|
Subvalvular aortic stenosis, Short phalanx of finger, Hyperactivity, Short toe, Sensorineural hea... |
OMIM:600430 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity, Absent thumb, EEG with burst suppression, Hypsarrhythmia, Atrial septal defect, Pu... |
OMIM:619239 |
Leukodystrophy, Hypomyelinating, 13 |
|
Ataxia, Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy |
OMIM:616881 |
Seckel Syndrome 10 |
|
Ventricular hypertrophy, Cone-shaped epiphysis, Impaired glucose tolerance, Glycosuria, Slender l... |
OMIM:617253 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Patellar hypoplasia, Bilateral talipes equinovarus, Preaxial foot polydactyly, Absent tibia, Mirr... |
OMIM:119800 |
Infantile Krabbe Disease |
|
Ankle clonus, Opisthotonus, Optic atrophy, Psychomotor deterioration, Decreased nerve conduction ... |
ORPHA:206436 |
Arthrogryposis, Distal, Type 2A |
|
Knee flexion contracture, Hip contracture, Flexion contracture of toe, Abnormal auditory evoked p... |
OMIM:193700 |
Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Coxa valga, Sensorineural hearing impairment, Abnormal cardiac septum morphology, Pat... |
ORPHA:3320 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Hip dislocation, Sensorineural hearing impairment, Coxa valga |
OMIM:109120 |
Atelosteogenesis Type Iii |
|
Short tibia, Patellar dislocation, Vertebral hypoplasia, Short tubular bones of the hand, Microgn... |
ORPHA:56305 |
Dyggve-Melchior-Clausen Disease |
|
Hypoplastic acetabulae, Inability to walk, Difficulty walking, Abnormality of the ankle, Hearing ... |
ORPHA:239 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Postaxial polydactyly, Short ribs, Short long bone, Absent tibia, Short di... |
OMIM:613091 |
Acromesomelic Dysplasia 2B |
|
Short phalanx of finger, Deviation of finger, Malaligned carpal bone, Patellar dislocation, Rhizo... |
OMIM:228900 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Ankle clonus, Optic atrophy, Inability to walk, Pes cavus, Absent A... |
OMIM:609541 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Osteoporosis, Type I diabetes mellitus, Hypoalbuminemia |
ORPHA:171 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Stankiewicz-Isidor Syndrome |
|
2-3 toe syndactyly, Hyperactivity, Absent thumb, Truncus arteriosus, Ventricular septal defect, M... |
OMIM:617516 |
Occipital Horn Syndrome |
|
Coxa valga, Large iliac wing, Hip dislocation, Osteolysis, Dysphagia, Short palm, Aplasia/hypopla... |
ORPHA:198 |
Tangier Disease |
|
Coronary artery stenosis, Left ventricular hypertrophy, Facial diplegia, Hypocholesterolemia, Hyp... |
ORPHA:31150 |
Marburg Hemorrhagic Fever |
|
Hypokalemia, Elevated circulating creatine kinase concentration, Pericarditis, Hypoglycemia, Hype... |
ORPHA:99826 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Shoulder dislocation, Genu varum, Conductive hearing impairment, Aplasia/Hypoplasia of the thumb,... |
OMIM:171480 |
Leptospirosis |
|
Retinal hemorrhage, Chorioretinitis, Pericarditis, Optic neuritis, Hyperproteinemia, Papilledema,... |
ORPHA:509 |
Trisomy 10P |
|
Short toe, Contracture of thumb, Macrotia, Low voltage EEG, EEG with burst suppression, EEG with ... |
ORPHA:171929 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Aganglionic megacolon, Ataxia, Abnormal circulating creatine concentration, Atheto... |
ORPHA:52503 |
Cockayne Syndrome A |
|
Hypoplastic iliac wing, Sensorineural hearing impairment, Hip contracture, Optic atrophy, Retinal... |
OMIM:216400 |
Faciocardiomelic Dysplasia, Lethal |
|
Short 5th finger, Hypoplasia of the radius, Micrognathia, Hypoplasia of the ulna, Talipes, Short ... |
OMIM:227270 |
Juvenile Polyposis Syndrome |
|
Low-set ears, Hypoproteinemia, Clubbing of fingers |
ORPHA:2929 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Pes cavus, Hyperactivity, Neonatal hyperbilirubinemia, Sensorineural hearing impairment |
OMIM:609727 |
Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Asymmetric septal hypertrophy, Dense calvaria, Progressive neurologic deterioratio... |
OMIM:252920 |
Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Rod-cone dystrophy, Motor deterioration, Asymmetric septal hypertrophy, Dense calv... |
OMIM:252930 |
Microphthalmia With Limb Anomalies |
|
Foot oligodactyly, Capitate-hamate fusion, 2-5 toe syndactyly, Toe syndactyly, Talipes equinovaru... |
OMIM:206920 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Patellar aplasia, Synostosis of... |
ORPHA:988 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Optic atrophy, Hyporeflexia of lower limbs, Pes cavus, Difficulty w... |
ORPHA:320406 |
Mesomelic Dysplasia, Savarirayan Type |
|
Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Narrow ili... |
ORPHA:85170 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Sensorineural hearing impairment, Optic atrophy, Hyperextensibility... |
ORPHA:521426 |
Mucopolysaccharidosis Type 3 |
|
Conductive hearing impairment, Optic atrophy, Abnormality of the middle ear ossicles, Dysphagia, ... |
ORPHA:581 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly |
OMIM:228250 |
Mogs-Cdg |
|
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses, Left ventri... |
ORPHA:79330 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Cognitive impairment, Progressive hearing impairment, Gait disturbance, Dementia, ... |
ORPHA:43 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, EEG with generalized epileptiform discharges, EEG with focal spikes, Interictal ep... |
ORPHA:163681 |
Fibrochondrogenesis 1 |
|
Patent foramen ovale, Dumbbell-shaped long bone, Short foot, Rhizomelia, Short ribs, Short long b... |
OMIM:228520 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Hip contracture, Optic atrophy, Hip dislocation, Overlapping toe, D... |
OMIM:617301 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Gait ataxia, Talipes calcaneovalgus, Hyperactivity, Dysdiadochokinesis, Optic atrophy, Dysmetria,... |
OMIM:610217 |
Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Broad foot, Short phalanx of finger, Short toe... |
OMIM:609441 |
Atelosteogenesis, Type I |
|
Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Limb undergrowth, Knee di... |
OMIM:108720 |
Hyperlysinemia |
|
Hyperlysinemia, Hyperactivity, Hypoornithinemia, Hypoplastic helices, Tip-toe gait, Dysmetria, Hy... |
ORPHA:2203 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Synostosis of carpal bones, Ulnar deviation of finger, Hypoplasia of the ulna, Abnormal morpholog... |
ORPHA:2634 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Short phalanx of finger, Hypoplastic iliac wing, Metaphyseal irregularity, Short ribs, Foot polyd... |
OMIM:208500 |
Gm1 Gangliosidosis Type 1 |
|
Broad long bone diaphyses, Macrotia, Exaggerated startle response, Short long bone, Flattened fem... |
ORPHA:79255 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rocker bottom foot, Exaggerated startle response, Cognitive impairment, Optic atrophy, Micrognath... |
OMIM:617527 |
Tropical Endomyocardial Fibrosis |
|
Pedal edema, Restrictive cardiomyopathy, Coronary artery stenosis, Right ventricular cardiomyopat... |
ORPHA:75565 |
Stiff Person Spectrum Disorder |
|
Diabetes mellitus, Exaggerated startle response, Falls, Difficulty walking |
ORPHA:3198 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomalacia, Cholesteatoma, Elevated circulating C-reactive protein concentration, Hypernatremia... |
OMIM:619381 |
Mucopolysaccharidosis Type 2 |
|
Conductive hearing impairment, Retinopathy, Optic atrophy, Papilledema, Abnormal mitral valve mor... |
ORPHA:580 |
Cockayne Syndrome B |
|
Hypoplastic iliac wing, Pigmentary retinopathy, Sensorineural hearing impairment, Optic atrophy, ... |
OMIM:133540 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ankle clonus, Ataxia, Overlapping toe, Low-set ears, Posteriorly ro... |
OMIM:618598 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Sensorineural hearing impairment, Micrognathia, Clinodactyly of the 5th finger, Os... |
OMIM:608747 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Gait ataxia, Exaggerated startle response, Clinodactyly of the 5th finger, Agitation, Truncal tit... |
OMIM:618056 |
Sandhoff Disease |
|
Exaggerated startle response, Ataxia, Orthostatic hypotension, Cardiomegaly, Progressive psychomo... |
OMIM:268800 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hyperactivity, Hypomagnesemia |
OMIM:618314 |
Eiken Syndrome |
|
Broad femoral neck, Pseudoepiphyses, Long hallux, Narrow pelvis bone, Flat acetabular roof, Clino... |
OMIM:600002 |
Charge Syndrome |
|
Micrognathia, Secundum atrial septal defect, Lop ear, Dysphagia, Bilateral talipes equinovarus, C... |
OMIM:214800 |
Tay-Sachs Disease |
|
Exaggerated startle response, Dementia, Psychomotor deterioration, Cherry red spot of the macula |
OMIM:272800 |
Gm2 Gangliosidosis, Ab Variant |
|
Cognitive impairment, Exaggerated startle response, Dystonia, Cherry red spot of the macula |
ORPHA:309246 |
Acro-Renal-Mandibular Syndrome |
|
Finger syndactyly, Hypoplasia of the radius, Micrognathia, Hip dislocation, Hypoplasia of the uln... |
ORPHA:958 |
Hydrolethalus Syndrome 1 |
|
Preaxial hand polydactyly, Upper limb undergrowth, Ventricular septal defect, Micrognathia, Proxi... |
OMIM:236680 |
Pmm2-Cdg |
|
Hyperinsulinemia, Macrotia, Rod-cone dystrophy, Pericardial effusion, Insulin resistance, Ataxia,... |
ORPHA:79318 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hyperactivity, Sensorineural hearing impairment, Ataxia, Hypouricemia |
ORPHA:760 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short phalanx of finger, Atrioventricular canal defect, Absent thumb, Coxa valga, Patellar disloc... |
OMIM:274000 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Macrotia, Inability to walk, Optic nerve hypoplasia, EEG with gener... |
OMIM:617864 |
Cranioectodermal Dysplasia 1 |
|
Short toe, Sagittal craniosynostosis, Rhizomelia, Short ribs, Bicuspid aortic valve, Retinal dyst... |
OMIM:218330 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Aganglionic megac... |
OMIM:609136 |
Omodysplasia 2 |
|
Rhizomelic arm shortening, Broad femoral neck, Short 1st metacarpal, Micrognathia, Clinodactyly o... |
OMIM:164745 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Blepharospasm, Akinesia, Optic atrophy, Abnormal foot morphology, Retinal degenera... |
OMIM:234200 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Macrotia, Hypoalbuminemia |
OMIM:614748 |
Campomelic Dysplasia |
|
11 pairs of ribs, Short long bone, Micrognathia, Hypoplastic inferior ilia, Tibial bowing, Hip di... |
ORPHA:140 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Macrotia, EEG with burst suppression, Hypsarrhythmia, Micrognathia,... |
OMIM:615574 |
Campomelic Dysplasia |
|
Short phalanx of finger, Conductive hearing impairment, Hallux valgus, Micrognathia, Hip dislocat... |
OMIM:114290 |
Hyperthyroidism, Nonautoimmune |
|
Increased circulating thyroglobulin level, Hyperactivity |
OMIM:609152 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response, EEG with temporal focal spikes |
ORPHA:163985 |
Ophthalmomandibulomelic Dysplasia |
|
Coxa valga, Radial bowing, Lateral humeral condyle aplasia, Mesomelia, Fibular hypoplasia |
OMIM:164900 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathetosis, Oculogy... |
OMIM:608643 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Hearing impairment, Inability to walk |
OMIM:620114 |
Acrodysostosis With Multiple Hormone Resistance |
|
Short phalanx of finger, Short toe, Hyperactivity, Hyperphosphatemia, Short metacarpal, Absent/hy... |
ORPHA:280651 |
Early Infantile Epileptic Encephalopathy |
|
Hyperactivity, Ventricular septal defect, EEG abnormality, EEG with burst suppression, Hypsarrhyt... |
ORPHA:1934 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Microtia, Radioulnar synostosis, Microretrognathia, Abnormal pelvic girdle bon... |
ORPHA:1788 |
Legius Syndrome |
|
Polydactyly, Hyperactivity, Diaphyseal dysplasia, Cognitive impairment, Pulmonic stenosis, Mitral... |
ORPHA:137605 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Patent foramen ovale, Exaggerated startle response, Ventricular septal defect, Inability to walk,... |
ORPHA:438213 |
Acheiropodia |
|
Aplasia of the ulna, Upper limb phocomelia, Absent radius, Abnormal metaphysis morphology, Abnorm... |
ORPHA:931 |
Choreoacanthocytosis |
|
Peroneal muscle atrophy, Hyperactivity, Blepharospasm, Falls, Resting tremor, Lingual dystonia, A... |
ORPHA:2388 |
Acrorenal-Mandibular Syndrome |
|
Toe syndactyly, Micrognathia, Foot polydactyly, Hypoplasia of the radius, Hip dislocation, Hand p... |
OMIM:200980 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Sandhoff Disease, Infantile Form |
|
Mitral valve prolapse, Exaggerated startle response, Cherry red spot of the macula |
ORPHA:309155 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Ataxia, External ear malformation, Dystonia, Broad-based gait |
ORPHA:438216 |
Maternal Phenylketonuria |
|
Double outlet right ventricle, Hyperactivity, Bifid distal phalanx of the thumb, Hypoplastic heli... |
ORPHA:2209 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Stiff-Person Syndrome |
|
Diabetes mellitus, Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Otopalatodigital Syndrome, Type Ii |
|
Conductive hearing impairment, Toe syndactyly, Micrognathia, Broad hallux, Short hallux, Postaxia... |
OMIM:304120 |
Osteopathia Striata With Cranial Sclerosis |
|
Paranasal sinus hypoplasia, Conductive hearing impairment, Ventricular septal defect, Microtia, F... |
OMIM:300373 |
Acromelic Frontonasal Dysplasia |
|
Preaxial foot polydactyly, Patellar hypoplasia, Aplasia/Hypoplasia of the tibia, Talipes equinovarus |
ORPHA:1827 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Argininemia |
|
Hyperactivity, Hyperammonemia, Hyperargininemia, Spastic gait |
OMIM:207800 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia, Dementia |
OMIM:272750 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Humeroradial synostosis, Aplasia/hypoplasia of the femur, Hip dislocation, Long ear, Phocomelia, ... |
OMIM:276820 |
Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
Hyperekplexia 1 |
|
Exaggerated startle response, Hip dislocation |
OMIM:149400 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Small earlobe, Exaggerated startle response, Tapered finger, Ventricular septal defect, Short 5th... |
OMIM:619522 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Orofaciodigital Syndrome Type 4 |
|
Camptodactyly of finger, Genu varum, Aplasia/Hypoplasia of the tibia, Conductive hearing impairme... |
ORPHA:2753 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Schneckenbecken Dysplasia |
|
Dumbbell-shaped long bone, Hypoplastic ilia, Short ribs, Diaphyseal thickening, Increased fibular... |
ORPHA:3144 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hip subluxation, Patent foramen ovale, Hypoplasia of proximal radius, Conductive hearing impairme... |
ORPHA:444077 |
Kinsship Syndrome |
|
Polydactyly, Coxa valga, Micrognathia, Hip dislocation, Dislocated radial head, Osteopenia, Mesom... |
OMIM:619297 |