Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Tremor, Hereditary Essential, 6 |
|
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor |
OMIM:618866 |
Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication |
OMIM:619491 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Episodic Kinesigenic Dyskinesia 2 |
|
Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia |
OMIM:611031 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
OMIM:232400 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia |
ORPHA:401840 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Neonatal Hemochromatosis |
|
Hypoglycemia, Increased circulating ferritin concentration, Congenital hepatic fibrosis, Increase... |
ORPHA:446 |
Tremor, Hereditary Essential, 2 |
|
Kinetic tremor, Upper limb postural tremor |
OMIM:602134 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus |
OMIM:611092 |
Polyglucosan Body Myopathy 2 |
|
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Elevated circu... |
OMIM:616199 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Ataxia, Intention tremor |
OMIM:190200 |
Episodic Kinesigenic Dyskinesia 3 |
|
Choreoathetosis, Torticollis, Involuntary movements, Dystonia |
OMIM:620245 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, ... |
OMIM:232700 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Distal muscle weakness, Hypoglycemia, Elevated circulating creatine kina... |
OMIM:300559 |
Hemochromatosis, Neonatal |
|
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... |
OMIM:231100 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... |
ORPHA:79299 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Diabetes mellitus, Increased circulating ferritin concentration, E... |
ORPHA:79230 |
Splenoportal Vascular Anomalies |
|
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi... |
OMIM:271500 |
Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated ci... |
OMIM:610717 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Skeletal muscle atrophy, Distal muscle weakness, Splenomegaly, Limb ataxia, Gait at... |
OMIM:616719 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Episodic Ataxia, Type 8 |
|
Episodic ataxia, Slurred speech, Ataxia, Intention tremor |
OMIM:616055 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... |
OMIM:614561 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia |
OMIM:606664 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Portal fibrosis, Hepat... |
ORPHA:369 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Incre... |
OMIM:261750 |
Mitochondrial Myopathy, Infantile, Transient |
|
Increased serum pyruvate, Hepatomegaly, Elevated circulating creatine kinase concentration, Facia... |
OMIM:500009 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat... |
OMIM:613313 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Dystonia 24 |
|
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia |
OMIM:615034 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Diabetes mellitus, Obesity |
OMIM:608320 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Spinocerebellar Ataxia 40 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... |
OMIM:616053 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Insulin resistance, Arthralgia, Paresthesia, Gait disturbance |
ORPHA:2398 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Lipod... |
OMIM:612526 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Spasticity, Gait ataxia |
ORPHA:217012 |
3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Hypoglycemia, Progressive cerebellar ataxia |
ORPHA:67046 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign |
ORPHA:85292 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619874 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fatty replacement of skeletal muscle, Gowers sign, Proximal muscle weakness in lower limbs, Fasti... |
ORPHA:171706 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:609016 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab... |
ORPHA:324575 |
Malaria |
|
Acute kidney injury, Hyperbilirubinemia, Gait imbalance, Elevated circulating C-reactive protein ... |
ORPHA:673 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Spinocerebellar Ataxia 37 |
|
Tremor, Frequent falls, Ataxia |
OMIM:615945 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor |
OMIM:611808 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Hypoketotic hypoglycemi... |
ORPHA:276580 |
Hypercholanemia, Familial, 2 |
|
Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia |
OMIM:619256 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Spasticity, Babinski sign, Ataxia |
OMIM:611105 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia |
OMIM:617018 |
Chorea, Benign Familial |
|
Chorea |
OMIM:215450 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Exercise-induced rhabdomyolysis, Elevated circulating crea... |
OMIM:201475 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile ... |
OMIM:619868 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Atrial septal defect, Hype... |
OMIM:620211 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre... |
OMIM:615703 |
Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor |
ORPHA:308 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly, Ataxia, Gait disturbance |
ORPHA:2274 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Hepatic steatosis, Recurrent hypoglycemia, Hypoalbuminemia |
OMIM:620357 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Elevated circulating creatine k... |
OMIM:618655 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Calf musc... |
ORPHA:280356 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated... |
OMIM:615158 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Elevated circ... |
ORPHA:42 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... |
ORPHA:139507 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Elevated hepatic transaminase, Waddling gait, Elevated circulating creatine kinase concentration,... |
OMIM:612937 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Acute hepatic failure, Generalized limb muscle atrophy, Gait ataxia, Hepatosplenomegaly, Progress... |
ORPHA:466794 |
Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Elevated hepatic transaminase, Hypoglycemia, Episodic tachypnea, Hypera... |
OMIM:615160 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circu... |
OMIM:619386 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Waddling gait, Hip contracture, Scapular winging, Broad-based gait, Elevated circulating creatine... |
OMIM:615290 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor |
ORPHA:2589 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Proteinuria, Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid... |
OMIM:620010 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Ataxia, Decr... |
OMIM:246900 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:600116 |
Sandhoff Disease, Adult Form |
|
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity |
ORPHA:309169 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Hyperbilirubinemia |
OMIM:618660 |
Dystonia 23 |
|
Axial dystonia, Torticollis, Writer's cramp, Myoclonus, Head tremor, Limb dystonia |
OMIM:614860 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Rhab... |
OMIM:618120 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypertriglyceridemia, Eleva... |
ORPHA:79240 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy, Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating free fatty acid... |
ORPHA:276556 |
Intellectual Developmental Disorder, Autosomal Recessive 14 |
|
Intention tremor |
OMIM:614020 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia |
OMIM:601820 |
Pediatric Hepatocellular Carcinoma |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat... |
ORPHA:33402 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fatty acid leve... |
ORPHA:276575 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619662 |
Rotor Syndrome |
|
Bilirubinuria, Conjugated hyperbilirubinemia, Conjunctival icterus, Porphyrinuria, Hyperbilirubin... |
ORPHA:3111 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:212140 |
Galactokinase Deficiency |
|
Hepatomegaly, Cataract, Hypoglycemia, Small for gestational age, Hyperinsulinemia, Hepatosplenome... |
ORPHA:79237 |
Dystonia 16 |
|
Torticollis, Postural tremor, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, Limb dystonia |
ORPHA:210571 |
Analbuminemia |
|
Lipodystrophy, Osteoporosis, Elevated circulating transferrin concentration, Increased LDL choles... |
OMIM:616000 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia |
OMIM:261650 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Progressive distal muscle weakness, Respirato... |
ORPHA:399058 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Frequent falls, Hemiballismus |
ORPHA:494526 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... |
OMIM:128230 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sho... |
OMIM:300718 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Res... |
OMIM:617404 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Intention tremor |
OMIM:617863 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia |
ORPHA:35 |
Mpi-Cdg |
|
Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis, Decreased liver function, H... |
ORPHA:79319 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Hepatomegaly, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... |
ORPHA:254864 |
Myopathy, Tubular Aggregate, 2 |
|
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Proximal muscle we... |
OMIM:615883 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Chorea, Involuntary movements |
OMIM:616939 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Elevated circulat... |
OMIM:600175 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... |
OMIM:306000 |
Dystonia 16 |
|
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... |
OMIM:612067 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Decrea... |
OMIM:619048 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia |
OMIM:605909 |
Edinburgh Malformation Syndrome |
|
Failure to thrive, Neonatal hyperbilirubinemia |
OMIM:129850 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Waddling gait, Scapular winging, Calf muscle pseudohypertrophy, Neck flexor weakness, Centrally n... |
OMIM:608358 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Athetosis, Hyperalaninemia |
OMIM:266150 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Hypoglycemia, Prolonged neonatal jaundice |
OMIM:262400 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
Dystonia 7, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... |
OMIM:602124 |
Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79235 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia |
ORPHA:423296 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia |
ORPHA:94124 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia |
OMIM:144300 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
OMIM:212138 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:255120 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... |
OMIM:613027 |
Hemochromatosis, Type 4 |
|
Fatigue, Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferri... |
OMIM:606069 |
Paroxysmal Kinesigenic Dyskinesia |
|
Involuntary movements, Writer's cramp, Chorea, Athetosis, Dystonia |
ORPHA:98809 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypertriglyceridemia, Hypog... |
ORPHA:264580 |
Fanconi-Bickel Syndrome |
|
Fasting hypoglycemia, Hepatomegaly, Ketonuria, Hypouricemia, Osteomalacia, Renal tubular dysfunct... |
OMIM:227810 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating branched chain amino acid conce... |
ORPHA:2394 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Skeletal muscle atrophy, Kyphosis, Inability to walk, Gait disturbance, Scoliosis, Joint contract... |
OMIM:611225 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Hypoglycemia |
OMIM:614741 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Babinski sign, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, Truncal ataxia, ... |
ORPHA:314978 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia |
OMIM:607250 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Osteoporosis, Gout, Increased LDL cholesterol c... |
OMIM:610947 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hypoglycemia, Elevated circulating creatinine concentration, Increased blood urea n... |
OMIM:617872 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... |
OMIM:607317 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Lipodystrophy, Adipose tissue loss, Insuli... |
ORPHA:528 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Decreased circulating cerul... |
OMIM:616828 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Lower limb spasticity, Hand tremor, Progressive spastic paraplegia |
ORPHA:401835 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... |
OMIM:604326 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:228305 |
Coach Syndrome 2 |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce... |
OMIM:619111 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Hypoglycemic seizures, Incr... |
ORPHA:293964 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Avian Influenza |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-... |
ORPHA:454836 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
Spinocerebellar Ataxia Type 28 |
|
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Head t... |
ORPHA:101109 |
Infantile Sialic Acid Storage Disease |
|
Osteopenia, Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Nephrotic sy... |
OMIM:269920 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Kyphoscoliosis, Elevated circulating creatine kinase concentr... |
OMIM:620386 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Ataxia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Diabetes mellitus, Pneumonia, Elevated circulating C-reactive protein conce... |
ORPHA:36238 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Myopathy, Lethargy, Hepat... |
ORPHA:26792 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Hypoglycosylation of alpha-dystroglycan, Scapular winging, Elevated circulating creatine kinase c... |
OMIM:616052 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Small for gestational age, Micropenis, Ataxia, Neonatal hyperbilirubinemia |
ORPHA:3363 |
Crigler-Najjar Syndrome Type 1 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemi... |
OMIM:278000 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Transient hyp... |
ORPHA:156 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Hyperlordosis, Chorea, Myopathy, Rest... |
ORPHA:369840 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Renal insufficiency, Increased body weight, Increased total bilirubin |
ORPHA:890 |
Bethlem Myopathy 2 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Kyphosis, Flexion contractu... |
OMIM:616471 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
Corticobasal Syndrome |
|
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr... |
ORPHA:454887 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia, Hepati... |
OMIM:602579 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Cataract, Elevated circulating creatine kinase concentration, Decreased movement range in interph... |
OMIM:609115 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Generalized muscle weakness, Hyperinsulinemia, Pancreatic islet-cell hyper... |
ORPHA:276608 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor... |
ORPHA:98762 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity |
OMIM:615768 |
Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Hepatomegaly, Hyperbilirubinemia |
OMIM:237800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Elbow contracture, V... |
OMIM:606612 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Hyperbilirubinemia |
OMIM:179700 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein... |
OMIM:251880 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism... |
ORPHA:314632 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Respiratory insufficiency due to muscle weakness, Kyphosis, Upper limb amyotrophy, Distal sensory... |
OMIM:617087 |
Migraine, Familial Hemiplegic, 1 |
|
Tremor, Hemiplegia, Ataxia, Hemiparesis |
OMIM:141500 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:617950 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno... |
OMIM:616860 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Knee flex... |
OMIM:608836 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Waddling gait, Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosi... |
OMIM:607155 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Myoclonus |
OMIM:615400 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity |
OMIM:615924 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Multiple renal cysts, Increased total bilirubin |
ORPHA:2924 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Osteoarthritis, Osteoporosis, Obesity, Hyperostosis frontalis interna, Hyperur... |
ORPHA:77296 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:617093 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Hypoglycemia, Low plasma citrulline, Elevated circulating alanine aminotransferase ... |
OMIM:261680 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Exercise-induced rhabdomyolysis, Respiratory distres... |
ORPHA:26793 |
Short Stature Due To Partial Ghr Deficiency |
|
Hypoglycemia |
ORPHA:314802 |
Porphyria Cutanea Tarda, Type I |
|
Hepatic fibrosis |
OMIM:176090 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Dyspnea, Tachypnea, Restrictive ventilator... |
OMIM:616414 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Hepatic bridgin... |
OMIM:613759 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Flexion contracture, Hyperglycemia, Calcinosis, Hepatomegaly, Lipodystrophy, Insulin-... |
OMIM:248370 |
Aceruloplasminemia |
|
Torticollis, Decreased circulating ceruloplasmin concentration, Decreased circulating copper conc... |
ORPHA:48818 |
Fadd-Related Immunodeficiency |
|
Hepatic fibrosis, Decreased liver function |
ORPHA:306550 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Hypoglycemia, Episodic tachypn... |
ORPHA:348 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:617049 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia |
OMIM:128235 |
Hijazi-Reis Syndrome |
|
Astigmatism, Gait disturbance, Iris coloboma, Hyperbilirubinemia |
OMIM:301094 |
Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
OMIM:608600 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng... |
OMIM:617284 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hepatic failure, Hypoglycemia, Hyperammonemia |
ORPHA:664 |
Systemic Primary Carnitine Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Neck muscle weakness, Muscle weakness |
ORPHA:158 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Elevated circulating creatine kinase concentration, Limb ataxia, Gait ataxia, Hypoalbumin... |
OMIM:208920 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Limb... |
ORPHA:216873 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega... |
OMIM:151660 |
Short Stature Due To Ghsr Deficiency |
|
Hypoglycemia |
ORPHA:314811 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Hepatomegaly, Ketonu... |
ORPHA:247598 |
Infantile Liver Failure Syndrome 2 |
|
Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia, Let... |
OMIM:616483 |
X-Linked Sideroblastic Anemia |
|
Fatigue, Elevated hepatic transaminase, Splenomegaly, Dyspnea, Glucose intolerance, Abnormality o... |
ORPHA:75563 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Hepatomegaly, Ventricular septal defect, Proteinuria, Conjugated hyperbilirubinemia, Nephropathy,... |
OMIM:613404 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi... |
ORPHA:521406 |
Autoinflammatory-Pancytopenia Syndrome |
|
Type I diabetes mellitus, Cholestatic liver disease, Hepatic fibrosis, Hepatosplenomegaly |
OMIM:619858 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst, Increased total bilirubin |
OMIM:174050 |
Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concent... |
ORPHA:79322 |
Urocanase Deficiency |
|
Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating acylcarnitine concentration, Rh... |
ORPHA:159 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia, Maturity-onset diabetes of the young, Obesity, Joint hypermobility |
ORPHA:254531 |
Iron Overload, Susceptibility To |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated circulati... |
OMIM:620121 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Apnea, Tachypnea, Hyperammonemia, Hyperglycinemia, Pancreatitis, Limb... |
OMIM:606054 |
Retinitis Pigmentosa 89 |
|
Micronodular cirrhosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly |
OMIM:618955 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations |
OMIM:615048 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph... |
OMIM:616730 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:614251 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Renal insufficiency, Neonatal insulin-dependent diabetes mellitus, Ch... |
ORPHA:1667 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... |
ORPHA:247585 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... |
ORPHA:53035 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia, Flexion contracture |
OMIM:618856 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Ele... |
OMIM:609015 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Secundum atrial septal defect, Elevated circu... |
OMIM:614300 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Respiratory failure requiring assisted ventilation, R... |
ORPHA:264675 |
Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Cholestasis, Glucose intolerance, Hepatic... |
OMIM:615630 |
Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria |
ORPHA:363710 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Galactosemia Ii |
|
Cataract, Hypergalactosemia, Galactosuria |
OMIM:230200 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Rickets |
OMIM:619232 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... |
OMIM:301310 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Lethargy, Hypoglycemia |
OMIM:615026 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Cataract, Proteinuria, Ataxia, Type II diabetes mellitus, Hy... |
ORPHA:225 |
Laron Syndrome |
|
Hypoplasia of penis, Hypoglycemia, Osteoarthritis, Truncal obesity, Hypercholesterolemia |
ORPHA:633 |
Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Diabetes mellitus, Elevated circulating creatine kinase concentration, L... |
OMIM:615980 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyp... |
ORPHA:2089 |
Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Overweight... |
OMIM:616222 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait |
OMIM:600363 |
Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus |
ORPHA:98763 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Incr... |
ORPHA:766 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Elevated circulating creati... |
OMIM:615895 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hype... |
ORPHA:35878 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Hypoglycemia |
OMIM:262700 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia |
OMIM:619175 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hypoglycemia, Ataxia, Tachypnea, Hyperammonemia, Body odor, Hyperuricemia, Cough, H... |
ORPHA:134 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Hypoglycemia, Proteinuria, Hyperlipidemia, Osteoporosis, Nephrolithiasis, Gout, Xan... |
OMIM:232200 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Myoclonus, Dystonia |
OMIM:619651 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Ataxia, Dysmetria |
OMIM:617917 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Fatigue, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Muscular dy... |
OMIM:253601 |
Laurence-Moon Syndrome |
|
Congenital hepatic fibrosis, Ataxia, Type II diabetes mellitus |
ORPHA:2377 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei... |
ORPHA:64753 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Hypoglycemia, Hyperammonemia |
ORPHA:6 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Hepatomegaly, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Joint ... |
OMIM:615704 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... |
ORPHA:240103 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... |
OMIM:606703 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Hepatomegaly, Ataxia, Tachypnea, Respiratory insufficiency, Respiratory fai... |
OMIM:614299 |
Harderoporphyria |
|
Hepatomegaly, Increased urine harderoporphyrin level, Splenomegaly, Increased circulating ferriti... |
OMIM:618892 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Skeletal muscle atrophy, Hypogly... |
ORPHA:26791 |
Citrullinemia Type I |
|
Torticollis, Ataxia, Tachypnea, Hyperammonemia, Elevated plasma citrulline, Hepatic failure |
ORPHA:247525 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Myoclonus, Dystonia, Limb hypertonia |
ORPHA:324588 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Elevated circulating c... |
OMIM:602088 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Ataxia, Splenomegaly, Hyperprolinemia, Muscle weakness, Hyperalaninemia... |
OMIM:619046 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Unsteady gait, Hypoglycemia |
OMIM:610090 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Dia... |
ORPHA:101330 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... |
OMIM:605814 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Hyperlipidemia, Splenomegaly |
OMIM:214900 |
Rapid-Onset Dystonia-Parkinsonism |
|
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dystonia, Craniofacial... |
ORPHA:71517 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia, Pancreatitis, Hyperammonemia |
OMIM:620137 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Hepatomegaly, Conjugated hyperbilirubinemia, Rickets, Renal cyst, Abnormal serum bile... |
ORPHA:79303 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Elevated circulating creatine kinase concentration, Spinal rigidity, Short neck, Kyp... |
ORPHA:75840 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Periportal fibrosis |
OMIM:213010 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypoglycemia, Small for gestational age, Insulin resistance, Osteoporosis, Truncal obesity, Failu... |
ORPHA:73272 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe... |
OMIM:618138 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ... |
ORPHA:567983 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Galactosemia Iv |
|
Cataract, Hypergalactosemia |
OMIM:618881 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome... |
ORPHA:567548 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... |
ORPHA:158057 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp... |
ORPHA:251282 |
Lipoyltransferase 1 Deficiency |
|
Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, Hyperglutaminuria, Increased tota... |
OMIM:616299 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612716 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Elevated circulating creatine kinase concentration, Short neck, Decreased cervical spi... |
ORPHA:98863 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating fatty-acid concentration, Hyper... |
ORPHA:263455 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia |
OMIM:618093 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... |
ORPHA:363654 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... |
OMIM:618858 |
Spinocerebellar Ataxia 50 |
|
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor |
OMIM:620158 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper... |
OMIM:618641 |
Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic acidemia, Hypoglycemia, Methylmalonic acidemia, Elevated hepatic transaminase |
ORPHA:289504 |
Acute Lung Injury |
|
Respiratory distress, Acute pancreatitis, Pneumonia, Elevated circulating C-reactive protein conc... |
ORPHA:178320 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Ataxia, Elevated circulating acylcarnitine concentration, Tachypnea, Respiratory failure, Abnorma... |
OMIM:615838 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... |
ORPHA:71212 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d... |
ORPHA:98855 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Gait disturbance, Mildly elevated creatine kinase, Hyperglycemia |
OMIM:604484 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Distal lower limb amyotrophy, Ataxia, Impaired pain sensation, Kyphosis, Distal upper limb amyotr... |
ORPHA:101075 |
Sandhoff Disease |
|
Splenomegaly, Kyphosis, Ataxia, Hepatomegaly |
ORPHA:796 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hernia, Abnormality of the lower urinary tract, Hyperbilirubinemia, Hiatus hernia |
ORPHA:101009 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Fatigue, Hepatomegaly, Elevated hepatic transaminase, Acute pancreatitis... |
ORPHA:20 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... |
OMIM:600803 |
Spinocerebellar Ataxia 23 |
|
Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia |
OMIM:610245 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus |
OMIM:613608 |
Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor |
OMIM:601068 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Failure to thrive |
OMIM:211600 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ... |
OMIM:619902 |
Maple Syrup Urine Disease |
|
Hypoglycemia, Elevated circulating branched chain amino acid concentration, Ataxia, Elevated circ... |
OMIM:248600 |
Atypical Rett Syndrome |
|
Sudden episodic apnea, Episodic tachypnea, Impaired pain sensation, Kyphosis, Inability to walk, ... |
ORPHA:3095 |
Donohue Syndrome |
|
Skeletal muscle atrophy, Hyperinsulinemia, Cholestasis, Hepatic fibrosis, Pancreatic islet-cell h... |
OMIM:246200 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, Flexion contracture, Increa... |
OMIM:618484 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d... |
ORPHA:98853 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Steatorrhea, Failure to thriv... |
OMIM:607765 |
Parkinsonism With Polyneuropathy |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:619279 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia, Muscle weakness |
OMIM:616111 |
Cholesteryl Ester Storage Disease |
|
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly |
ORPHA:75234 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Obesity, Craniosynostosis, Cardiomegaly |
ORPHA:88643 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:618838 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Ataxia... |
OMIM:267700 |
Senior-Loken Syndrome |
|
Congenital hepatic fibrosis, Ataxia |
ORPHA:3156 |
Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Hepatomegaly, Broad-based gait, Ataxia, Fail... |
ORPHA:14 |
Becker Muscular Dystrophy |
|
Exercise intolerance, Fatigue, Elevated hepatic transaminase, Skeletal muscle atrophy, Elevated c... |
ORPHA:98895 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia, Inability to walk, Respiratory insufficiency, Athetosis, Gait disturbance, Scoliosi... |
OMIM:618241 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Fatigue, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Fulminant hepatitis, Type I diabe... |
OMIM:618549 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypoglycemia, Acute rhabdomyolysis, Camptodactyly of finger, Ataxia, Kyphosis, Dysmetria, Paresth... |
ORPHA:48431 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Elevated hepati... |
OMIM:619355 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, R... |
ORPHA:412 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Decreased HDL cholesterol concentration, Corneal arcus, Cataract |
OMIM:618463 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea, Maternal diabetes |
ORPHA:45452 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Lethargy, Hepatic steatosis |
OMIM:201450 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:615362 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Decreased seru... |
ORPHA:541423 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Ataxia, Insulin resistance, Hyperinsulinemia, Gait ataxia, My... |
ORPHA:363400 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Elevated circulati... |
ORPHA:99901 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periportal fibrosis, Elevated hepatic tr... |
OMIM:619484 |
Acute Interstitial Pneumonia |
|
Fatigue, Elevated circulating C-reactive protein concentration, Crackles, Nonproductive cough, Dy... |
ORPHA:79126 |
Glycogen Storage Disease Vii |
|
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Gout, Hematur... |
OMIM:232800 |
Pyridoxal Phosphate-Responsive Seizures |
|
Hypoglycemia, Abnormal circulating glycine concentration, Abnormal circulating tyrosine concentra... |
ORPHA:79096 |
Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
Myofibrillar Myopathy 10 |
|
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Kyphosis, Elbow fl... |
OMIM:619040 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... |
OMIM:606176 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Ataxia-Oculomotor Apraxia 4 |
|
Ataxia, Elevated circulating alpha-fetoprotein concentration, Obesity, Hypoalbuminemia, Hyperchol... |
OMIM:616267 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased circulating car... |
ORPHA:79159 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Conjugated hyperbilirubinemia, Mic... |
OMIM:617156 |
Mitochondrial Trifunctional Protein Deficiency |
|
Progressive distal muscle weakness, Rhabdomyolysis, Generalized muscle weakness, Cholestasis, Ske... |
ORPHA:746 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilir... |
OMIM:618528 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
Neutral Lipid Storage Myopathy |
|
Hand muscle weakness, Fatty replacement of skeletal muscle, Gowers sign, Cholecystitis, Hepatic s... |
ORPHA:98908 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:604367 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Hypoglycemia, Proteinuria, Splenomegaly, Hyperlipidemia, Osteoporosis, Nephrolithia... |
OMIM:232220 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, C... |
OMIM:602390 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Renal tubular dysfunction, Hyperbilirubinemia, Decreased body weight, Atrial septal defect, Eleva... |
OMIM:614886 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Bicuspid aortic valve, Overweight, Dilated cardiomyopathy, Renovascular hypertension, Type II dia... |
ORPHA:401923 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614727 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Tachypnea, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood u... |
OMIM:620085 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Hypoglycemia, Ataxia... |
ORPHA:3008 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Poor head control, Hypoglycemia, Elevated circulating aspartate aminotra... |
OMIM:245400 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hypoglycemia, Hyperuricemia |
ORPHA:364 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Abdominal pain, Cardiomegaly, Inc... |
OMIM:235200 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Ventricular septal defect, Small for gestational age, Conjugated hyperbilirubinemia, Nephropathy,... |
OMIM:208085 |
Parkinson Disease 22, Autosomal Dominant |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:616710 |
Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Aminoaciduria, Increased ... |
OMIM:603358 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotr... |
OMIM:614921 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Hsd10 Mitochondrial Disease |
|
Choreoathetosis, Elevated circulating tiglylglycine concentration, Hypoglycemia |
OMIM:300438 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Exercise intolerance, Elevated circulating creatine kinase concen... |
OMIM:615084 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Hyperammonemia, Hyperglycinemia, Lethargy, Pa... |
OMIM:251000 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... |
OMIM:606159 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Hypoglycemic seizures, Obesity, Hyperbilirubinemia |
OMIM:609734 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoaciduria, Hypoalbuminemia... |
OMIM:277900 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat... |
ORPHA:254704 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:617836 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... |
OMIM:617145 |
Subaortic Stenosis-Short Stature Syndrome |
|
Short neck, Kyphosis, Biliary tract abnormality, Respiratory insufficiency, Type II diabetes mell... |
ORPHA:3191 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Splenomegaly, Hyperbilirubinemia, Steatorrhea, Failure to thrive |
OMIM:235555 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... |
ORPHA:397946 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Cardiomyopathy, Cataract, Elevated circulating creatine kinase concentration |
OMIM:615352 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Decreased circulating free fatty acid level, Recurrent hy... |
ORPHA:79644 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont... |
ORPHA:536516 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Hypoglycemia, Elevated circulating alpha-fet... |
OMIM:276700 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Jaundice, Tachypnea, Hyperammonemia, Hype... |
OMIM:615751 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Urocanic Aciduria |
|
Action tremor, Ataxia, Truncal ataxia, Gait ataxia |
ORPHA:210128 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor |
OMIM:619738 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Recurrent hypoglycemia, Unsteady gait, Gait ataxia |
OMIM:618158 |
Mehmo Syndrome |
|
Inability to walk, Hypoglycemia, Difficulty walking, Gait ataxia |
OMIM:300148 |
Idiopathic Congenital Hypothyroidism |
|
Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia |
ORPHA:95717 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Waddling gait, Inguinal hernia, Cataract, Small for gestational age, Reduced bone mineral density... |
OMIM:618392 |
Argininosuccinic Aciduria |
|
Hepatomegaly, Ataxia, Elevated circulating aspartate aminotransferase concentration, Hyperglutami... |
OMIM:207900 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Kyphosis, I... |
OMIM:615381 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Skeletal muscle atrophy, Ataxia, Impaired pain sensation, Kyphosis, Gait disturbance, Scoliosis |
ORPHA:101078 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes ... |
ORPHA:99886 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Acute hyperammonemia, Hypoglycemia, Lethargy |
OMIM:210200 |
Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis... |
ORPHA:470 |
Typical Nemaline Myopathy |
|
Waddling gait, Elevated circulating creatine kinase concentration, Facial palsy, Hyperlordosis, S... |
ORPHA:171436 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology |
ORPHA:3032 |
Classic Galactosemia |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Ataxia, Jaundice, Ascites, Gait distur... |
ORPHA:79239 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Maturity-onset diabetes of the young, Obesity, Truncal obesity, Hyperc... |
ORPHA:96184 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ... |
OMIM:610199 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Elevated hepatic transaminase, Waddling gait, Elevated circulating creatine kinase concentration,... |
OMIM:300280 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Proximal muscle weakness in upper limbs, Hypertriglyceridemia, Elevated circulating... |
ORPHA:435660 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia |
OMIM:618958 |
Hypermanganesemia With Dystonia 1 |
|
Hepatomegaly, Hypermanganesemia, Steppage gait, Increased total iron binding capacity, Unconjugat... |
OMIM:613280 |
Central Core Disease |
|
Neonatal respiratory distress, Multiple joint contractures, Elevated circulating creatine kinase ... |
ORPHA:597 |
Primary Biliary Cholangitis |
|
Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Hepatic failure, Biliary cirrhosis,... |
ORPHA:186 |
Joubert Syndrome 7 |
|
Central apnea, Ataxia, Episodic tachypnea, Tachypnea, Scoliosis, Neonatal breathing dysregulation |
OMIM:611560 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... |
OMIM:605911 |
Bachmann-Bupp Syndrome |
|
Hypoglycemia, Hyperbilirubinemia, Large for gestational age |
OMIM:619075 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14 |
|
Inability to walk, Cataract, Ataxia, Elevated circulating creatine kinase concentration |
OMIM:615350 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia |
ORPHA:1368 |
Joubert Syndrome 9 |
|
Episodic tachypnea, Hepatic fibrosis, Apnea, Scoliosis |
OMIM:612285 |
Biliary Atresia, Extrahepatic |
|
Unconjugated hyperbilirubinemia, Hepatomegaly, Hyperbilirubinemia, Increased total bilirubin |
OMIM:210500 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Increased serum bile acid concentration |
OMIM:243300 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Recurrent fractures, Hypercalcemia, Cranio... |
ORPHA:251004 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia |
ORPHA:329249 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Glyco... |
OMIM:616026 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Apnea, Abnormal hemidiaphragm morphology, Asthma, Tachypnea, Pneum... |
ORPHA:2257 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Pelvic mass, Reduced C-peptide level, Neoplasm of t... |
ORPHA:2126 |
3-Methylglutaconic Aciduria Type 4 |
|
Hypoglycemia, Decreased liver function |
ORPHA:67048 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Decreased liver function |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Decreased liver function |
OMIM:618839 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Elevated transferrin saturation |
OMIM:205950 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Waddling gait, Broad-based gait, Lumbar hyperlordosis, Ataxia, Kyphosis, Inability to walk, Scoli... |
OMIM:616756 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea... |
ORPHA:79084 |
H Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Recurrent fractures, Lipodystrophy, Abnormality of the k... |
ORPHA:168569 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hepatosplen... |
OMIM:619487 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Waddling gait, Hepatomegaly, Elevated circulating creatine kinase concentration, Proximal muscle ... |
OMIM:251900 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate |
OMIM:607361 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Atretic gallbladder, ... |
ORPHA:30391 |
Parastremmatic Dwarfism |
|
Kyphosis, Flexion contracture, Scoliosis, Short neck |
OMIM:168400 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myoglobinuria, Renal insufficiency, Ataxia, Hyperbilirubinemia |
ORPHA:713 |
Galactosemia Iii |
|
Splenomegaly, Hepatomegaly, Jaundice, Hypergalactosemia |
OMIM:230350 |
Sialidosis Type 2 |
|
Skeletal muscle atrophy, Hepatomegaly, Ataxia, Splenomegaly, Kyphosis, Flexion contracture, Dyspn... |
ORPHA:87876 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Ataxia, Hepatic fibrosis, Portal hypertension |
OMIM:617341 |
Isolated Complex I Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Poor head control, Diabetes mellitus, Hypoglycemia, Ataxi... |
ORPHA:2609 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Skeletal muscle atrophy, Microvesicular hepatic steatosis, Progressive mus... |
OMIM:256810 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulating aspartate amino... |
OMIM:620300 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Portal hypertension, Splenomegaly, Abnormal ... |
OMIM:216360 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating aspartate aminotransf... |
ORPHA:2088 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Hypoalbuminemia, Hepatic fibrosis, Generalized amyotrophy, Neoplasm of the... |
ORPHA:171 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... |
OMIM:612736 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Hepatomegaly, Dicarboxylic aciduria, Lacticaciduria, Hypoalbumine... |
OMIM:613070 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Respiratory insufficiency due to muscle weakness, Ra... |
OMIM:613561 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... |
OMIM:610582 |
Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Hypercalcemia, Increased proinsulin:insulin ratio, Recurrent hypog... |
ORPHA:94086 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Iridodonesis, Ataxia, Hypoplasia of the iris, Joint hyperflexibility, Astigmatism, Hy... |
ORPHA:2479 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Conjugated hyperbilirubinemia, Umbilical hernia, Abnormal circulating thyroglobulin level |
ORPHA:95715 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph... |
OMIM:618348 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Abnormal renal morphology, Increased body weight, Abnormal heart morphology... |
OMIM:182290 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Fatigue, Waddling gait, Elevated circulating creatine kinase concentration, Proximal amyotrophy, ... |
ORPHA:209335 |
Dent Disease |
|
Elevated circulating creatine kinase concentration, Delayed epiphyseal ossification, Nephrocalcin... |
ORPHA:1652 |
Familial Thyroid Dyshormonogenesis |
|
Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Abnormal circulating thyroglo... |
ORPHA:95716 |
Cog4-Cdg |
|
Hypercholesterolemia, Ataxia, Failure to thrive in infancy, Hepatosplenomegaly |
ORPHA:263501 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Ataxia |
OMIM:278780 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hepatomegaly, Cataract, Ataxia, Conjugated hyperbilirubinemia, Splenomegaly, Inability to walk, H... |
OMIM:608885 |
Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Aortic valve stenosi... |
OMIM:615382 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Dystonia |
OMIM:618049 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Broad-based gait, Neonatal respiratory distress, Ataxia, Crackles, Asthma, ... |
OMIM:610978 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Diabetes mellitus, Joint stiffness, Cardiomegaly, Increased circulating ferritin co... |
ORPHA:465508 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Ataxia, Distal muscle weakness, Achilles te... |
OMIM:616263 |
Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Dyspne... |
OMIM:607616 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy, Hypoglycemia, Generalized amyotrophy |
OMIM:610006 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Flexion contracture, Dysmetria, Hypoalbumine... |
OMIM:212065 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated hepatic transaminase, Hypoglycemia, Elevated circulating creatine kinase concentration, ... |
OMIM:616878 |
Congenital Analbuminemia |
|
Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... |
ORPHA:86816 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Exercise intolerance, Elevated circulating creatine kinase concen... |
ORPHA:352447 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Spasticity, Ataxia, Myoclonus |
OMIM:616494 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia, Hepatitis, Hypoglycemic seizures, Prolonged neonatal jaundice, Neonat... |
ORPHA:199296 |
2P21 Microdeletion Syndrome |
|
Hypoglycemia, Hypocalcemia |
ORPHA:163693 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Exercise intolerance, Elevated hepatic transaminase, Hypoglycemia, Portal hypertension, Cough, Ta... |
OMIM:613658 |
Galactose Mutarotase Deficiency |
|
Hepatomegaly, Hypergalactosemia, Cholestasis, Decreased liver function |
ORPHA:570422 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Insulin resistance, Long pen... |
ORPHA:508 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce... |
OMIM:300972 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Diabetes mellitus, Foot joint contracture, Facial palsy, Ataxia, Achilles tendon co... |
ORPHA:456312 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Inability to walk, Flexion contracture, Nephrotic syndro... |
OMIM:617303 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hyperuricemia, Hyperammonemia |
OMIM:246450 |
Endocardial Fibroelastosis |
|
Hypoglycemia |
ORPHA:2022 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Elevated circulating glutaric acid concentratio... |
OMIM:231680 |
Transaldolase Deficiency |
|
Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly, Hepatic fibrosis, Decreas... |
OMIM:606003 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Inability to walk, Hyperalaninemia, Hypoglycemia, Hyperammonemia |
OMIM:614739 |
Dominant Beta-Thalassemia |
|
Diabetes mellitus, Hypoplasia of the musculature, Hepatocellular carcinoma, Hypersplenism, Spleno... |
ORPHA:231226 |
Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Ataxia, Dysmetria, Increased LDL cholesterol concentration, Xanthelasma, Pr... |
OMIM:277460 |
Aceruloplasminemia |
|
Diabetes mellitus, Ataxia, Decreased serum iron, Increased circulating ferritin concentration, Ac... |
OMIM:604290 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Neonatal hypoglycemia, Hypoglycemia, Hyperbilirubinemia |
OMIM:613986 |
Cdkl5-Deficiency Disorder |
|
Impaired pain sensation, Kyphosis, Abnormal respiratory system physiology, Gait disturbance, Diff... |
ORPHA:505652 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Urinary incontinence, Spinal muscular atrophy, Camptodactyly of finger, Denervation of the diaphr... |
OMIM:604320 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Spasticity |
OMIM:213200 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Cranial hyperostosis, Hepatosplenomeg... |
OMIM:259720 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Ascites |
OMIM:614702 |
Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Cataract, Elevated circulating creatine kinase concentration |
OMIM:615184 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Fatigue, Elevated hepatic transaminase, Tachypnea, Elevated circulating creatinine concentration,... |
ORPHA:542323 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Poor head control, Hypoglycemia, Hypoalbuminemia, Macrovesicular h... |
OMIM:618329 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Dystonia |
ORPHA:306669 |
Cog8-Cdg |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Poor head control, Hypoglycemia, Ataxia |
ORPHA:95428 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... |
OMIM:232300 |
Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity |
OMIM:608768 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Myoclonus |
OMIM:619028 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Fatigue, Elevated circulating creatine kinase concentration, Hyperlordosis, Skeletal muscle hyper... |
OMIM:613157 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentr... |
OMIM:603553 |
Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia |
OMIM:601775 |
Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Elevated... |
OMIM:615673 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Diabetic ketoacidosis, Hepatic steatosis, Increased C-peptide... |
OMIM:615238 |
Cholera |
|
Hyponatremia, Hypoglycemia, Abdominal pain, Tachypnea, Abnormal blood ion concentration, Hypokale... |
ORPHA:173 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Lethargy, Hyperammonemia |
ORPHA:28 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Ataxia, Elevated circulating creatine kinase concentration, Centrally nu... |
OMIM:248800 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia |
ORPHA:139485 |
Adams-Oliver Syndrome 6 |
|
Splenomegaly, Hepatic fibrosis, Portal hypertension |
OMIM:616589 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Bicarbonaturia, Aminoaciduria, Renal Fanconi ... |
OMIM:309000 |
Cystic Echinococcosis |
|
Hepatomegaly, Bone cyst, Renal cyst, Abnormal heart morphology, Weight loss, Membranous nephropat... |
ORPHA:400 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Short neck, Respiratory insufficiency due to muscle weakness, Kyphosis, ... |
OMIM:611890 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Cataract, Hype... |
OMIM:606721 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Decreased serum bile acid concentration, Hepatomegaly, Failure to thrive, Hyperbilirubinemia |
OMIM:214950 |
Pulmonary Alveolar Microlithiasis |
|
Fatigue, Hepatomegaly, Abnormal circulating calcium concentration, Nonproductive cough, Dyspnea, ... |
ORPHA:60025 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Proteinuria, Hyperlipidemia, Osteop... |
ORPHA:79259 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Failure to thrive in infancy, Joint stiffness, Renal hypoplasia/aplasia, Ab... |
ORPHA:819 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... |
OMIM:615415 |
Beta-Thalassemia Major |
|
Hepatomegaly, Diabetes mellitus, Hypoplasia of the musculature, Hepatocellular carcinoma, Hypersp... |
ORPHA:231214 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrophy, Scoliosis |
OMIM:618323 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cholestatic liver disease, Hypoglycemia, Hypoketotic hypoglycemia |
ORPHA:5 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Broad-based gait, Elevated circulating alanine aminotransferase concentration, Hypo... |
OMIM:618805 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Bradykinesia, Dystonia, Parkinsonism with favorable response to dopaminergic me... |
ORPHA:240085 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia |
OMIM:617916 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Spinal rigidity, Respiratory insufficiency... |
OMIM:254090 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia |
ORPHA:172 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Obesity, Gout, Nephrocalcinosi... |
ORPHA:90041 |
Biotinidase Deficiency |
|
Hepatomegaly, Ataxia, Apnea, Splenomegaly, Tachypnea, Hyperammonemia |
OMIM:253260 |
Axial Osteomalacia |
|
Myopathy, Polycystic liver disease, Elevated circulating creatine kinase concentration, Proximal ... |
OMIM:109130 |
Hsd10 Disease, Infantile Type |
|
Poor head control, Hypoglycemia, Cardiomegaly, Hyperammonemia, Choreoathetosis, Loss of ambulation |
ORPHA:391428 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con... |
ORPHA:84081 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Urinary incontinence, Neonatal hyperbilirubinemia, Hiatus hernia, Urinary urgency, Urinary hesita... |
OMIM:609727 |
Cog7-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:79333 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
ORPHA:329284 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Exercise intolerance, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Elevated... |
OMIM:613327 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Cataract, Elevated circulating creatine kinase concentration, Achilles tendon contracture, Obesit... |
OMIM:615418 |
Graft Versus Host Disease |
|
Dupuytren contracture, Fasciitis, Lipodystrophy, Limited elbow movement, Limited shoulder movemen... |
ORPHA:39812 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Impaired vibratory sensation, Tachypnea, Spastic gai... |
ORPHA:415 |
Tetanus |
|
Rigors, Respiratory distress, Elevated circulating creatine kinase concentration, Bowel incontine... |
ORPHA:3299 |
Neuhauser Syndrome |
|
Osteopenia, Iridodonesis, Ataxia, Hypoplasia of the iris, Hypercholesterolemia, Megalocornea |
OMIM:249310 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni... |
OMIM:619725 |
Glutaric Acidemia I |
|
Choreoathetosis, Elevated circulating glutaric acid concentration, Hypoglycemia, Hepatomegaly |
OMIM:231670 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hepatomegaly, Maternal diabetes, Cardiomegaly, Tachypnea, Hypoxemia, Right ventricular hypertrophy |
ORPHA:860 |
Cholestasis-Lymphedema Syndrome |
|
Fatigue, Hepatomegaly, Portal hypertension, Abdominal pain, Splenomegaly, Hyperlipidemia, Jaundic... |
ORPHA:1414 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykin... |
OMIM:618877 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Clumsiness, Bradykinesia, Dystonia |
OMIM:619911 |
Mcleod Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:300842 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Hypoglycemia, Lethargy |
OMIM:229700 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Hypospadias, Splenomegaly, Hepatosplenomegaly, Micropenis, Weight loss, Unconjugate... |
OMIM:613673 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... |
OMIM:208540 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Failure to thrive, Splenomegaly |
OMIM:601847 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Cataract, Hyperamylasemia, Band keratopathy, Impaired renal tubular reabsorption of bicarbonate, ... |
OMIM:604278 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Abnormal urinary color |
ORPHA:234 |
Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Hypoglycemia, Diastasis recti, Neonatal hypoglycemia |
ORPHA:231140 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Intraal... |
OMIM:300770 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ataxia, Micronodular cirrhosis... |
ORPHA:98907 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Malignant Hyperthermia Of Anesthesia |
|
Acute hepatic failure, Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Hypercapnia, Abnorm... |
ORPHA:423 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... |
ORPHA:99750 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Hepatomegaly, Dicarboxylic aciduria, Conjugated hyperbilirubinemia, Increased circulating very lo... |
OMIM:614887 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Ataxia, Impaired pain sensation, Kyphosis, Unsteady gait, Distal sensory impairment, Scoliosis, L... |
OMIM:618124 |
Methionine Malabsorption Syndrome |
|
Tachypnea, Positive ferric chloride test |
OMIM:250900 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Calf muscle pseudohypertrophy, Hypertriglyceridemia, Diabetes mellitus, Maternal di... |
ORPHA:79083 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J... |
OMIM:603552 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Chronic fatigue, Hypersplenism, Splenomegaly, Bone pain, Hypocholesterolemia |
OMIM:610539 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... |
OMIM:262190 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... |
OMIM:602347 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Hypoglycemia, Proteinuria, Ataxia, Mesangial h... |
OMIM:617575 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Ataxia, Microvesicula... |
OMIM:124000 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Hepatic fibrosis, Cirrhosis, Hepatomegaly |
OMIM:601539 |
Bacterial Toxic-Shock Syndrome |
|
Pain, Respiratory distress, Myositis, Sinusitis, Elevated circulating creatine kinase concentrati... |
ORPHA:36234 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Dyspnea, Tachypnea, Hypophosphatemia |
OMIM:239200 |
Senior-Loken Syndrome 9 |
|
Hepatic fibrosis, Cholestasis |
OMIM:616629 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hypoglycemia, Microvesicular hepatic steatosis, Hepatic failure, M... |
OMIM:611126 |
Gaucher Disease Type 2 |
|
Respiratory distress, Hepatomegaly, Splenomegaly, Flexion contracture, Cough, Abnormal pattern of... |
ORPHA:77260 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Cholestasis, Hypokalemia, Portal fibrosis, Hepatic fibrosis, In... |
OMIM:619377 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi... |
OMIM:608612 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Skeletal muscle atrophy, Ataxia, Hypoglycemia, Dysmetria, Athetosis, Generalized amyotrophy, Musc... |
OMIM:617710 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Ataxia, Elevated circulating c... |
OMIM:608799 |
Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Splenomegaly, Arthrit... |
OMIM:210250 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi... |
OMIM:615157 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea, Ataxia, Hyperammonemia |
ORPHA:79242 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Failure to thrive, Enlarged kidney |
OMIM:615285 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Impaired vibratory sensation, Urinary incontinence, Kyphosis, Impaired vibration sensation in the... |
OMIM:614409 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Axial dystonia, Torticollis, Writer's cramp, Limb tremor, Focal dystonia, Myoclonus, Head tremor,... |
ORPHA:420492 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Abnormal urinary color, Increased total bilirubin |
ORPHA:90037 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Kyphosis, Myopathy, Macrovesicular hepatic steatosis, Scoliosis |
OMIM:618234 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
OMIM:240200 |
Spinocerebellar Ataxia Type 21 |
|
Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor... |
ORPHA:98773 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Cataract, Elevated circulating creatine kinase concentration, Osteolysis, Increase... |
ORPHA:52430 |
Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:91547 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dystonia, Limb... |
OMIM:261640 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Atrial septal defect, Hepatomegaly, Cataract, Ventricular septal defect, Hypospadias, Small for g... |
OMIM:614866 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Rigidity, Abnormal pyramidal sign, Gait ataxia, Bradykines... |
ORPHA:391411 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Intention tremor |
OMIM:610185 |
Glut1 Deficiency Syndrome 2 |
|
Tremor, Ataxia, Choreoathetosis, Dystonia |
OMIM:612126 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:40 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Respiratory distress, Porta... |
ORPHA:367 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordination, Myoclonus, Myoclonic... |
ORPHA:79263 |
Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Corneal arcus, Xanthelasma |
OMIM:603776 |
Fructose Intolerance, Hereditary |
|
Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Hypoglycemia, Bicarbonaturia, Proximal ... |
OMIM:229600 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
Epilepsy, Progressive Myoclonic, 6 |
|
Tremor, Ataxia, Myoclonus |
OMIM:614018 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Inguinal hernia, Large for gestational age, Umbilical hernia, Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Hepatomegaly, Inguinal hernia, Increased serum beta-hexosaminidase, Craniosynostosis,... |
OMIM:252500 |
High Altitude Pulmonary Edema |
|
Exercise intolerance, Orthopnea, Crackles, Dyspnea, Tachypnea, Hypoxemia, Chest pain, Cough |
ORPHA:330012 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612438 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... |
ORPHA:79345 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia, Hepatomegaly |
OMIM:605479 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Kyphosis, Skeletal muscle hypertrophy, Gait disturbance, Scoliosis |
ORPHA:99014 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia |
ORPHA:98870 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated hepatic transaminase, Hypoglycemia, Elevated circulating creatine kinase concentration, ... |
ORPHA:480864 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... |
ORPHA:730 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Hyperglycemia |
OMIM:615453 |
Mitchell-Riley Syndrome |
|
Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia |
OMIM:615710 |
Spherocytosis, Type 4 |
|
Splenomegaly, Hyperbilirubinemia |
OMIM:612653 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Increased serum bile acid concentration, Hyperbilirubinemia, Mild proteinuria |
OMIM:619685 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Hypoglycemia |
ORPHA:231147 |
Pyruvate Dehydrogenase Deficiency |
|
Ataxia, Dyspnea, Tachypnea, Choreoathetosis, Gait disturbance |
ORPHA:765 |
Scorpion Envenomation |
|
Pain, Acute pancreatitis, Increased circulating NT-proBNP concentration, Ataxia, Elevated circula... |
ORPHA:466677 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia |
OMIM:233910 |
Pleural Mesothelioma |
|
Respiratory distress, Hepatomegaly, Dyspnea, Abnormal respiratory system physiology, Chest pain, ... |
ORPHA:50251 |
Hereditary Spherocytosis |
|
Hepatomegaly, Ataxia, Splenomegaly, Gout, Hyperbilirubinemia, Restrictive cardiomyopathy |
ORPHA:822 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Hyperprolinemia, Hyperalaninemia, Leth... |
OMIM:619064 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Tremor, Rigidity, Dysmetria, Gait ataxia |
OMIM:618090 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Left ventricular hypertrophy, Hypercholesterolemia, Hyperglycemia |
ORPHA:90065 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Tremor, Ataxia, Dysmetria, Gait ataxia |
OMIM:618387 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Splenomegaly, Hepatomegaly, Reduced haptoglobin level, Unconjugated hyperbilirubinemia |
OMIM:266200 |
Alpha-Mannosidosis |
|
Hepatomegaly, Short neck, Kyphosis, Splenomegaly, Macroglossia, Type II diabetes mellitus, Scoliosis |
ORPHA:61 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia |
ORPHA:70594 |
Glycogen Storage Disease Xii |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Jaundice, Elevate... |
OMIM:611881 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Bulbar palsy, Poor head control, Hypoglycemia, Elevated circulating creatine kinase concentration... |
OMIM:619055 |
Chronic Bilirubin Encephalopathy |
|
Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hypernatremia, Neonatal h... |
ORPHA:529808 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... |
OMIM:606693 |
Acute Bilirubin Encephalopathy |
|
Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hypernatremia, Neonatal h... |
ORPHA:529799 |
Cryptogenic Organizing Pneumonia |
|
Fatigue, Respiratory distress, Bronchial breath sound, Elevated circulating C-reactive protein co... |
ORPHA:1302 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... |
OMIM:271530 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Congenital Myopathy 22A, Classic |
|
Fatigue, Hip contracture, Thoracic scoliosis, Scapular winging, Waddling gait, Spinal rigidity, C... |
OMIM:620351 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Joint stiffness, Heparan sulfate excretion in urine, Inability to walk, Flexion cont... |
ORPHA:505248 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Hyperammonemia, Dysmetria, Hyperornithinemia, Dysdiadochokinesis, Decreased liver f... |
OMIM:238970 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... |
ORPHA:79301 |
Linear Verrucous Nevus Syndrome |
|
Cataract, Abnormality of the kidney, Reduced bone mineral density, Abnormal cornea morphology, Hy... |
ORPHA:2611 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Diaphragmatic eventration, Ataxia, Microvesicular hepatic steatosi... |
ORPHA:66634 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Abnormality of the pancreas, Splenomegaly, Jaundice, Cholestasis, Increased serum i... |
OMIM:222470 |
Hypotonia-Cystinuria Syndrome |
|
Facial palsy, Neonatal hypoglycemia, Ragged-red muscle fibers, Hypocalcemia, Muscle weakness |
OMIM:606407 |
Sickle Cell Anemia |
|
Osteoporosis, Osteomyelitis, Elevated circulating creatinine concentration, Unconjugated hyperbil... |
ORPHA:232 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Ataxia, Facial myokymia |
OMIM:620007 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Abnormal heart morp... |
ORPHA:85445 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Insulin resistance, Enlarged ki... |
ORPHA:90301 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Hypoglycemic seizures, Hepatic necrosis, Hepatic steatosis, Hypoketoti... |
OMIM:231530 |
Myopathy, Centronuclear, 2 |
|
Waddling gait, Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal muscle... |
OMIM:255200 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hyperbilirubinemia, Hepatosplenomegaly |
ORPHA:79302 |
Spherocytosis, Type 1 |
|
Splenomegaly, Hyperbilirubinemia |
OMIM:182900 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Xanthelasma |
OMIM:144010 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Splenomegaly, Hepatomegaly, Hyperbilirubinemia |
OMIM:616689 |
Lathosterolosis |
|
Cataract, Osteoporosis, Horseshoe kidney, Hepatosplenomegaly, Abnormal circulating cholesterol co... |
OMIM:607330 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... |
OMIM:263200 |
Polymyositis |
|
Fatigue, Hepatomegaly, Elevated circulating creatine kinase concentration, Abdominal pain, Abnorm... |
ORPHA:732 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
OMIM:300635 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Hyperbilirubinemia |
OMIM:235700 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly |
ORPHA:882 |
Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Renal tubular dy... |
ORPHA:69076 |
Glutathionuria |
|
Tremor, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type I diabetes mellitus, Hypoglycemia, Elevated hemoglobin A1c, Ataxia |
OMIM:616113 |
Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... |
OMIM:607060 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Hepatomegaly, Chorea, Hyperammonemia, Choreoathetosis, Pancreatitis |
ORPHA:289916 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Hepa... |
ORPHA:79085 |
Spherocytosis, Type 2 |
|
Splenomegaly, Hyperbilirubinemia |
OMIM:616649 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Inguinal hernia... |
OMIM:608022 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Cardiomyopathy, Ar... |
OMIM:604250 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor |
OMIM:614307 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hip contracture, Abnormality of the kidney, Abnormal renal cortex morphology, Osteolysis involvin... |
ORPHA:464321 |
Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Hepatomegaly, Cataract, Elevated circulating hexacosanoic acid concentration, Epiphyseal stipplin... |
OMIM:614872 |
Mednik Syndrome |
|
Cirrhosis, Cholestasis, Hepatic fibrosis, Increased circulating very long-chain fatty acid concen... |
OMIM:609313 |
Acth Deficiency, Isolated |
|
Jaundice, Fasting hypoglycemia, Cholestasis |
OMIM:201400 |
Classic Hodgkin Lymphoma |
|
Fatigue, Hepatomegaly, Ataxia, Splenomegaly, Bone pain, Respiratory insufficiency, Chest pain, Cough |
ORPHA:391 |
Joubert Syndrome 6 |
|
Bile duct proliferation, Hepatic fibrosis, Ataxia |
OMIM:610688 |
Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Ataxia, Impaired pain sensation, Kyphosis, Type II diabetes mellitus, Sc... |
ORPHA:2047 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Hepatomegaly, Abdominal pain, Splenomegaly, Hyperammonemia, Choreoathetosis... |
ORPHA:79312 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Ataxia, Elevated circulating creatine... |
OMIM:615356 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Reactive hypoglycemia, Jaundice, Hypermagnesemia, Hyperuricemia, Hypophosphatemia, ... |
ORPHA:469 |
Alg1-Cdg |
|
Kyphosis, Respiratory failure, Hypoalbuminemia, Decreased liver function, Scoliosis |
ORPHA:79327 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Poor head control, Elevated circulating aspartate aminotransferase concentration, E... |
OMIM:614924 |
Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Small for gestational age, Hypercalciuria, 3-Methylglutaric aciduria, Renal Fanconi... |
OMIM:557000 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... |
OMIM:301045 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Fatigue, Hepatomegaly, Acute hyperammonemia, Respiratory distress, Ataxia, Hyperglutaminemia, Hyp... |
ORPHA:927 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Periportal fibrosis, Flexion contracture, Congenital diaphragmatic hernia |
OMIM:263210 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Limb ataxia,... |
ORPHA:101 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Hepatomegaly, Ascites, Hypocalcemia |
ORPHA:100025 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis |
OMIM:614831 |
Bardet-Biedl Syndrome |
|
Skeletal muscle atrophy, Hepatic fibrosis |
ORPHA:110 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Tachypnea, Hyperhomocystinemia, Elevated circulating p... |
OMIM:614857 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Microvesicular hepatic steato... |
OMIM:619418 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Loss of ambulation, Hypoglycemia, Hyperammonemia |
OMIM:618253 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Spastic gait |
OMIM:616795 |
Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys... |
ORPHA:254881 |
Distal Xq28 Microduplication Syndrome |
|
Tip-toe gait, Patent foramen ovale, Neonatal hyperbilirubinemia |
ORPHA:293939 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Elevated circulating aspartate aminotransfer... |
OMIM:608779 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Abnormal circulating fatty-acid concentration, Enlarged polycystic ovaries, Ins... |
ORPHA:2298 |
Cystathioninuria |
|
Tremor |
ORPHA:212 |
Lopes-Maciel-Rodan Syndrome |
|
Tremor, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Hypertonia, Dystonia, Spasticity |
OMIM:617435 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Reduced vital capacity, Short neck, Kyphosis, Flexion contracture, Respiratory insufficiency, Sco... |
ORPHA:178148 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Insulin resistance, Abnormal... |
ORPHA:2348 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Gm1-Gangliosidosis, Type Iii |
|
Skeletal muscle atrophy, Ataxia, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar v... |
OMIM:230650 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Congenital muscular dystrophy, Gait disturbance |
ORPHA:1875 |
Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Bilateral fetal pyelectasis, Increased urine succinate level... |
OMIM:606812 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... |
ORPHA:228308 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Joint contracture, Cataract, Elevated circulating creatine kinase concentration |
OMIM:615351 |
Infantile Refsum Disease |
|
Hepatomegaly, Ataxia, Facial palsy, Progressive muscle weakness, Elevated circulating phytanic ac... |
ORPHA:772 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Facial hypotonia, Elevated circulating creatine kinase concentration, Cardiomegaly,... |
ORPHA:308552 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Hepatomegaly, Diabetes mellitus, Splenomegaly, Osteoporosis, Reduced bone mineral den... |
ORPHA:231222 |
Developmental And Epileptic Encephalopathy 42 |
|
Tremor, Athetosis, Hypertonia, Ataxia |
OMIM:617106 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubation, Opisth... |
OMIM:607483 |
Neurooculorenal Syndrome |
|
Iris atrophy, Decreased circulating cortisol level, Hypoplasia of the bladder, Dextrocardia, Unil... |
OMIM:620305 |
Alagille Syndrome 1 |
|
Multiple small medullary renal cysts, Microcornea, Vesicoureteral reflux, Atrial septal defect, A... |
OMIM:118450 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Portal hypertension, Congenital hepatic fibr... |
ORPHA:1454 |
Meckel Syndrome, Type 8 |
|
Pericardial effusion, Hyperechogenic kidneys, Polycystic kidney dysplasia, Enlarged kidney |
OMIM:613885 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Tachypnea, Cough |
OMIM:263000 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Inguinal hernia, Diabetes mellitus, Cataract, Ataxia, Unilateral renal agenesis, Ectopic kidney, ... |
OMIM:616541 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity |
ORPHA:1170 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly... |
ORPHA:565612 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenit... |
ORPHA:731 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Impaired vibratory sensation, Kyphosis, Lower limb hypertonia, Gait disturbance, Upper limb hyper... |
OMIM:614898 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... |
ORPHA:309854 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Failure to thrive, Delayed proximal femoral epiphyseal ossification, Umbilical hernia, Hyperchole... |
ORPHA:90674 |
Whipple Disease |
|
Hyponatremia, Fatigue, Hepatomegaly, Myositis, Ataxia, Abdominal pain, Splenomegaly, Insulin resi... |
ORPHA:3452 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Tremor, Dysmetria, Gait ataxia, Apraxia, Spasticity |
OMIM:617810 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Intercostal retractions, Crackles, Cardiomegaly, Wheezing, Tachypnea, Recurrent pne... |
ORPHA:1329 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypoglycemia, Hypercalcemia, Hyperkalemia, Hepatitis, Hyperuricemia, Type I diabete... |
ORPHA:199299 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Thoracolumbar scoliosis, Kyphosis, Respiratory insufficiency, Knee flexion contr... |
OMIM:313420 |
Houge-Janssens Syndrome 1 |
|
Fatigue, Congenital muscular torticollis, Facial hypotonia, Hypoglycemia, Gait ataxia, Scoliosis |
OMIM:616355 |
Galactosemia I |
|
Hepatomegaly, Cataract, Increased level of galactitol in plasma, Aminoaciduria, Albuminuria, Gala... |
OMIM:230400 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Tremor, Ataxia, Dysmetria, Titubation |
OMIM:619405 |
Exercise-Induced Malignant Hyperthermia |
|
Fatigue, Ataxia, Elevated circulating creatine kinase concentration, Crackles, Rhabdomyolysis, Hy... |
ORPHA:466650 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Camptodactyly |
OMIM:618453 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Increased total bilirubin |
ORPHA:90036 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly, Short neck, Tachypnea, Pulmonary arterial hypertension, Dysplastic sacrum, Severe p... |
OMIM:613320 |
Perry Syndrome |
|
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism |
ORPHA:178509 |
Pyridoxine-Dependent Epilepsy |
|
Hypoglycemia |
ORPHA:3006 |
Beta-Thalassemia |
|
Hepatomegaly, Splenomegaly, Reduced bone mineral density, Abnormality of iron homeostasis, Hypert... |
ORPHA:848 |
Rh Deficiency Syndrome |
|
Jaundice, Tachypnea, Hepatosplenomegaly, Hypoxemia, Hyperbilirubinemia, Reduced haptoglobin level |
ORPHA:71275 |
Hemoglobin H Disease |
|
Splenomegaly, Hepatomegaly |
OMIM:613978 |
Farber Disease |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Intrahepatic cholestasis with episodic ja... |
ORPHA:333 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Torsion dystonia, Bleph... |
OMIM:128100 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Skeletal muscle hypertro... |
ORPHA:435651 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Impaired vibratory sensation, Kyphosis, Impaired proprioception, Upper limb hypertonia |
ORPHA:319199 |
Congenital Erythropoietic Porphyria |
|
Osteopenia, Scarring, Increased connective tissue, Abnormal circulating porphyrin concentration, ... |
ORPHA:79277 |
Dehydrated Hereditary Stomatocytosis |
|
Splenomegaly, Increased circulating ferritin concentration, Abnormal blood potassium concentratio... |
ORPHA:3202 |
Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertrigly... |
OMIM:203800 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Splenomegaly, Decreased glucose-6-phosphate dehydrogenase level in blood, Hemoglobinuria, Unconju... |
OMIM:300908 |
Joubert Syndrome 23 |
|
Tachypnea, Apnea |
OMIM:616490 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Type II diabetes mellitus, Cataract, Ataxia, Elevated circulating creatine kinase concentration |
ORPHA:79095 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
Congenital Disorder Of Deglycosylation 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Facial hypotonia, Elevated circulating alpha-fetopro... |
OMIM:615273 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Tachypnea, Left ventricular noncompaction |
OMIM:616501 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Splenomegaly, Hepatomegaly, Small for gestational age, Hyperbilirubinemia |
OMIM:224120 |
Hypermanganesemia With Dystonia 2 |
|
Generalized dystonia, Dystonia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Opisthotonus, ... |
OMIM:617013 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Facial palsy, Elevated circulating creatine kinase concentration, Generalized muscl... |
OMIM:619424 |
Leishmaniasis |
|
Fatigue, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Night sweats, Arthralgia, Hyp... |
ORPHA:507 |
Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Ataxia, Insulin resistance, Biliary tract abnormality, Hepatic fibrosis, Gait ... |
OMIM:209900 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Skeletal muscle atrophy, Acute hyperammonemia, Hypoglycemia, Hyperammonemia, Hyperleucinemia, Let... |
OMIM:210210 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Ataxia, Myopathy, Hepatic steatosis, Muscle weakness |
OMIM:275630 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Hepatomegaly, Hyperbilirubinemia |
OMIM:185000 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoglycemia, Ataxia, Proximal muscle weakness in lower limbs, Type II diabetes mellitus, Hypoins... |
ORPHA:453533 |
Mucolipidosis Iii Gamma |
|
Increased serum beta-hexosaminidase, Hyperlordosis, Short neck, Kyphosis, Arthralgia, Scoliosis |
OMIM:252605 |
Typhoid |
|
Fatigue, Hepatomegaly, Ataxia, Epistaxis, Abdominal pain, Splenomegaly, Arthralgia, Myalgia, Cough |
ORPHA:99745 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Abnormality of the musculature of the lower limbs, Ataxia, Urinary incontinence, K... |
ORPHA:464282 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentration, Atrial septal def... |
OMIM:619991 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Cataract, Ataxia, Conjugated hyperbilirubinemia, Hepatosplenomegaly, Zonular cataract |
ORPHA:168577 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... |
OMIM:137440 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, D... |
OMIM:610921 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Abnormal pupil morphology, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Le... |
ORPHA:534 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly |
OMIM:606445 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Exercise intolerance, Hepatomegaly, Respiratory distress, Ataxia, Respiratory insufficiency due t... |
OMIM:220110 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Skeletal muscle atrophy, Myositis, Elevated circulating C-reactive protein concentration, Tachypn... |
OMIM:615934 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic... |
OMIM:609812 |
Hardikar Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic bile duct cysts, Cholangitis, Portal hy... |
OMIM:301068 |
Low Phospholipid-Associated Cholelithiasis |
|
Overweight, Hypercholesterolemia, Diabetes mellitus, Obesity |
ORPHA:69663 |
Cirrhotic Cardiomyopathy |
|
Exercise intolerance, Hepatomegaly, Increased circulating NT-proBNP concentration, Left ventricul... |
ORPHA:57777 |
Adult-Onset Still Disease |
|
Fatigue, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating C-reactive protein con... |
ORPHA:829 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Large for gestational age, V... |
ORPHA:116 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Increased circulating thyrogl... |
ORPHA:90673 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Gait disturbance, Ataxia, Scoliosis |
ORPHA:85317 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Cataract, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Masa Syndrome |
|
Kyphosis, Shuffling gait, Hyperlordosis |
OMIM:303350 |
Intrahepatic Cholestasis Of Pregnancy |
|
Increased serum bile acid concentration, Small for gestational age, Hyperbilirubinemia |
ORPHA:69665 |
Muscle-Eye-Brain Disease |
|
Cataract, Gait disturbance, Elevated circulating creatine kinase concentration |
ORPHA:588 |
Werner Syndrome |
|
Cataract, Hypertriglyceridemia, Elevated hemoglobin A1c, Diabetes mellitus, Osteoporosis, Reduced... |
OMIM:277700 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Cardiomegaly, Flexion c... |
ORPHA:365 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Ataxia, Hyperammonemia, Choreoathetosis, Lethargy, Pancreatitis |
ORPHA:27 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia... |
ORPHA:275761 |
Spinocerebellar Ataxia Type 27 |
|
Tremor, Hand tremor, Limb ataxia, Gait ataxia, Truncal ataxia |
ORPHA:98764 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... |
OMIM:238600 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple... |
OMIM:615234 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Renal salt wasting, Hyperkalemi... |
OMIM:614736 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Skeletal muscle atrophy, Poor head control, Hypoglycemia, Ataxia, Splenomegaly, Rag... |
OMIM:252010 |
Autoimmune Hypoparathyroidism |
|
Calcium nephrolithiasis, Increased bone mineral density, Cataract, Hyperphosphatemia, Conjunctivi... |
ORPHA:36913 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Splenomegaly, Cirrhosis, Hepatic failure, Li... |
OMIM:613489 |
Joubert Syndrome 1 |
|
Macroglossia, Poor head control, Hepatic fibrosis, Ataxia |
OMIM:213300 |
Transketolase Deficiency |
|
Hepatomegaly, Increased level of ribose in urine, Cataract, Ventricular septal defect, Renal cyst... |
ORPHA:488618 |
Fetal Akinesia Deformation Sequence 4 |
|
Skeletal muscle atrophy, Short neck, Kyphosis, Camptodactyly, Arthrogryposis multiplex congenita |
OMIM:618393 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis, Hepatic cysts |
OMIM:612284 |
Joubert Syndrome 3 |
|
Central apnea, Ataxia, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:608629 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Loss of ambulation, Apnea, Episodic tachypnea, Aspiration pneumonia |
ORPHA:79264 |
Timothy Syndrome |
|
Hypoglycemia, Hypocalcemia, Cardiomegaly |
OMIM:601005 |
Joubert Syndrome |
|
Ataxia, Apnea, Episodic tachypnea, Abnormal form of the vertebral bodies, Gait disturbance, Scoli... |
ORPHA:475 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Fasciculations |
OMIM:313200 |
Joubert Syndrome 30 |
|
Tachypnea, Apnea |
OMIM:617622 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Decreased circulating plasmalogen concentration, Cataract, Inguinal hernia, Failure t... |
OMIM:222765 |
Creatine Phosphokinase, Elevated Serum |
|
Fatigue, Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, My... |
OMIM:123320 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis, Congenital fibrosis of extraocular muscles |
OMIM:609384 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Kyphosis, Hyperinsulinemia, Type II diabetes mellitus, Hyperlordosis |
ORPHA:3085 |
Wilson Disease |
|
Back pain, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaun... |
ORPHA:905 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Prolonged neonatal jaundice |
OMIM:618512 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Respiratory distress, Respiratory failure requiring... |
OMIM:211530 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Distal muscle weakness, Broad-based gait, Diabetes mellitus, Hypoglycemia |
ORPHA:391408 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... |
OMIM:300055 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Polycystic liver disease, Pancreatic fibrosis, Conjugated hyperbilirubinemia, Pancreatic cysts, J... |
OMIM:208500 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Skeletal muscle atrophy, Elevated circulating aspartate aminotransferase concentrat... |
OMIM:257200 |
Portal Hypertension, Noncirrhotic, 2 |
|
Fatigue, Hepatomegaly, Elevated hepatic transaminase, Epistaxis, Portal hypertension, Nodular reg... |
OMIM:619463 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, T... |
ORPHA:2872 |
Waisman Syndrome |
|
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Parkinsonism with favora... |
OMIM:311510 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Intraalveolar phospholipid accumulation... |
OMIM:265120 |
Mucopolysaccharidosis, Type Iva |
|
Waddling gait, Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the... |
OMIM:253000 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Elevated circulating creatine kinase concentration, Limited elbow movement, Cardiomegaly, Inabili... |
ORPHA:268 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Ataxia, Splenomegaly, Aplasia/Hypoplasia of the abdominal wall musculature, Athetos... |
ORPHA:834 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Progressive external ophthalmoplegia, Elevated circu... |
OMIM:617713 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomegaly, Tachypnea, Hypoxe... |
ORPHA:555874 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia |
OMIM:301083 |
Refsum Disease, Classic |
|
Cataract, Ataxia, Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomyopathy,... |
OMIM:266500 |
Hereditary Elliptocytosis |
|
Splenomegaly, Neonatal hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:288 |
Isolated Atp Synthase Deficiency |
|
Hepatomegaly, Ataxia, Ophthalmoplegia, Hyperammonemia, Muscle weakness, Hyperalaninemia, Lethargy |
ORPHA:254913 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Calf muscle pseudohypertrophy, Insulin-re... |
ORPHA:79086 |
Behr Syndrome |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Progressive spasticity, Truncal ataxia, Frequent falls |
OMIM:210000 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Autoimmune Hepatitis |
|
Splenomegaly, Arthritis, Glomerulonephritis, Increased total bilirubin |
ORPHA:2137 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Limb ataxia, Gait ataxia, Dysmetria, Scoliosis |
OMIM:610743 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Enlarged kidney |
OMIM:200995 |
Pseudohypoparathyroidism, Type Ic |
|
Cataract, Osteoporosis, Obesity, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response... |
OMIM:612462 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Tremor, Ataxia, Blepharospasm, Myoclonus |
OMIM:607876 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Hypoglycemia |
ORPHA:231137 |
Primary Fanconi Renotubular Syndrome |
|
Bicarbonaturia, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hypouricemia, Osteoma... |
ORPHA:3337 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis |
ORPHA:85288 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dystonia, Spasticity |
OMIM:607694 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic fatigue, Intrahepatic cholestasis with episo... |
ORPHA:100085 |
Joubert Syndrome With Oculorenal Defect |
|
Tachypnea, Ataxia, Apnea, Scoliosis |
ORPHA:2318 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia, Hypoglycemia |
OMIM:608688 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
OMIM:300894 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Osteopenia, Calcinosis, Cataract, Splenomegaly, Inability to walk, Renal hypoplasia... |
OMIM:617913 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Scoliosis |
OMIM:300434 |
Histiocytoid Cardiomyopathy |
|
Exercise intolerance, Hepatomegaly, Hypoglycemia, Cardiomegaly, Tachypnea, Cough |
ORPHA:137675 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Elevated circulating creatine ... |
ORPHA:329178 |
Pseudohypoparathyroidism, Type Ia |
|
Cataract, Osteoporosis, Obesity, Hyperphosphatemia, Subcutaneous ossification, Low urinary cyclic... |
OMIM:103580 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Conjugated hyperbilirubinemia, Secundum atrial septal defect, Primum atrial septal de... |
OMIM:619534 |
Syndromic Diarrhea |
|
Hepatomegaly, Splenomegaly, Abnormality of the liver, Hepatic fibrosis, Abnormality of iron homeo... |
ORPHA:84064 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Gait disturbance, Scoliosis |
ORPHA:2429 |
Neuraminidase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Splenomegaly, Dysmetria, Ascites, Muscle wea... |
OMIM:256550 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Bowel incontinence, Kyphosis, Impaired vibration sensation in the lower limbs, Chronic pa... |
ORPHA:88628 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Ascites, Hepatic fibrosis |
OMIM:614091 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Tachypnea, Respiratory insufficienc... |
OMIM:618278 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Hepatomegaly, Elevated hepatic transaminase, Skeletal muscle atrophy, Hyp... |
ORPHA:17 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Abdominal pain, Splenomegaly... |
ORPHA:85414 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperextensibility of the finger joints, Ventricular septal defect, Hypospadias, Hypocalcemia, Hy... |
ORPHA:163979 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Inguinal hernia, Cataract, Proteinuria, Glomerulonephritis, Elevated circulating cr... |
OMIM:614376 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia |
OMIM:618060 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Facial palsy, Splenomegaly, Dyspnea, Pneumothorax, Bronchiectasis, Hypoxemia, Restr... |
OMIM:612387 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Citrullinemia, Classic |
|
Hepatomegaly, Ataxia, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Cirrhosis... |
OMIM:215700 |
Hemifacial Atrophy, Progressive |
|
Trigeminal neuralgia, Kyphosis, Ataxia |
OMIM:141300 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cataract, Neonatal hypoglycemia, Cardiomegaly, Pericardial effusion, Increased myocardial glycoge... |
OMIM:261740 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dystonia, Spasticity |
ORPHA:542310 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Impaired pain sensation, Kyphosis, Chorea, Inability to walk, Gait ataxia, Limb hypertonia |
ORPHA:500180 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Urethral atresia, Transposition of the great arteries, Neonatal death, Atrioventric... |
OMIM:314390 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatomegaly, Poor head control, Ataxia, Cholangitis, Pancreatic cysts, Congenital hepatic fibros... |
OMIM:266920 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Ataxia, Respiratory insufficiency due to muscle weakness, Skeletal muscle steatosis... |
ORPHA:436271 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Metatropic Dysplasia |
|
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Flexion con... |
OMIM:156530 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
Arthrogryposis, Distal, Type 5 |
|
Exercise intolerance, Decreased muscle mass, Reduced forced expiratory volume in one second, Kyph... |
OMIM:108145 |
Malonyl-Coa Decarboxylase Deficiency |
|
Hypoglycemia |
OMIM:248360 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Myopathy, Generalized limb muscle atrophy, Scoliosis |
ORPHA:2598 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Conjunctival icterus, Ch... |
ORPHA:447 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Unsteady gait, Ataxia, Scoliosis |
OMIM:300861 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Hypoglycemia |
ORPHA:2158 |
Cardiomyopathy, Dilated, 2H |
|
Tachypnea, Cardiorespiratory arrest |
OMIM:620203 |
Aredyld Syndrome |
|
Hepatomegaly, Splenomegaly, Type II diabetes mellitus, Scoliosis, Type I diabetes mellitus |
ORPHA:1133 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Ascites, Hypercalcemia |
ORPHA:2123 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Hepatomegaly, Splenomegaly, Chronic pulmonary obstruction, Cough, Pulmonary... |
ORPHA:2414 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis |
ORPHA:60 |
Multifocal Atrial Tachycardia |
|
Dyspnea, Tachypnea |
ORPHA:3282 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Flexion contracture, Myopathy |
OMIM:618237 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Poor head control, Elevated circulating aspartate aminotransferase concentration, M... |
OMIM:615595 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Poor head control, Congenital foot contractures, Tip-toe gait, Muscle weakness, Loss of ambulatio... |
ORPHA:565624 |
Ogden Syndrome |
|
Global glomerulosclerosis, Inguinal hernia, Bicuspid aortic valve, Left atrial enlargement, Ventr... |
OMIM:300855 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:158061 |
Bardet-Biedl Syndrome 20 |
|
Proteinuria, Obesity, Astigmatism, Atrial septal defect, Hypercholesterolemia, Micropenis |
OMIM:619471 |
Gracile Syndrome |
|
Decreased transferrin saturation, Increased circulating ferritin concentration, Renal Fanconi syn... |
ORPHA:53693 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Hypoglycemia, Ataxia, Distal muscle weaknes... |
ORPHA:506 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:168600 |
Ethylene Glycol Poisoning |
|
Ataxia, Facial palsy, Flank pain, Tachypnea, Hyperkalemia, Episodic respiratory distress, Hypocal... |
ORPHA:31826 |
Winchester Syndrome |
|
Kyphosis |
OMIM:277950 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Peroxisome Biogenesis Disorder 9B |
|
Cardiomyopathy, Cataract, Elevated circulating phytanic acid concentration, Ataxia |
OMIM:614879 |
Cockayne Syndrome Type 2 |
|
Hepatomegaly, Ataxia, Kyphosis, Flexion contracture, Gait disturbance, Scoliosis, Difficulty walk... |
ORPHA:90322 |
Silver-Russell Syndrome 2 |
|
Neonatal hypoglycemia |
OMIM:618905 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Elevated ci... |
OMIM:614582 |
Sialidosis Type 1 |
|
Skeletal muscle atrophy, Ataxia, Splenomegaly, Kyphosis, Abnormal form of the vertebral bodies, G... |
ORPHA:812 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Hypoglycemia, Hyperglycerolemia, Chronic pancreatitis, Myopathy, Muscular d... |
OMIM:307030 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Apneic episodes in infancy, Episodic tachypnea |
ORPHA:163961 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity |
ORPHA:209902 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spasticity |
OMIM:616840 |
Cocaine Intoxication |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Abdominal pain, Flank p... |
ORPHA:90068 |
Degcags Syndrome |
|
Osteopenia, Bilateral renal hypoplasia, Atrial septal defect, Patent foramen ovale, Hepatomegaly,... |
OMIM:619488 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Ataxia, Increased hepatocellular lipid droplets, Microvesicular hepatic steatosis, ... |
OMIM:220111 |
Borjeson-Forssman-Lehmann Syndrome |
|
Scheuermann-like vertebral changes, Kyphosis, Scoliosis, Cervical spinal canal stenosis |
OMIM:301900 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Inguinal hernia, Recurrent fractures, Unilateral renal agenesis, Subperiosteal bone f... |
OMIM:618188 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowe... |
ORPHA:240071 |
Silver-Russell Syndrome 1 |
|
Fasting hypoglycemia, Hepatocellular carcinoma |
OMIM:180860 |
Meacham Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of the right hemidiaphrag... |
OMIM:608978 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Hypoglycemia, Chronic pancreatitis, Hyperlipidemia, Hyperuricemia, Hepatocellular c... |
OMIM:232240 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Thoracic kyphoscoliosis, Hepatomegaly, Lumbar hyperlordosis, Portal hypertension, Reduced forced ... |
OMIM:613385 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Ketonuria, Small for gestational age, Athetosis, Glycosuria, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
Dengue Fever |
|
Hepatomegaly, Ascites, Hypoproteinemia, Lethargy |
ORPHA:99828 |
Temple Syndrome |
|
Recurrent hypoglycemia, Type II diabetes mellitus |
ORPHA:254516 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Fulminant hepa... |
OMIM:308240 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Lipoatrophy, Papillary... |
ORPHA:363618 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614034 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Hepatomegaly, Generalized amyotrophy, Elevated circulating C-reactive protein concentration |
OMIM:619423 |
Cole Disease |
|
Hyperglycemia, Abnormal blood phosphate concentration |
OMIM:615522 |
Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia |
OMIM:268150 |
Cranioectodermal Dysplasia 2 |
|
Joint laxity, Hepatomegaly, Inguinal hernia, Renal insufficiency, Craniosynostosis, Splenomegaly,... |
OMIM:613610 |
Dopamine Beta-Hydroxylase Deficiency |
|
Fatigue, Hypoglycemia, Dyspnea, Insulin resistance, Hyperinsulinemia, Elevated circulating creati... |
ORPHA:230 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypoglycemia |
OMIM:201910 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Type I diabetes mellitus, Hepatomegaly, Ataxia |
OMIM:560000 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Neonatal hypoglycemia, Cardiomegaly, Pancreatic hyperplasia, Nephrolit... |
OMIM:130650 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Cataract, Hyperlipidemia, Flexion contracture, Limitation of joint mobility, Osteolysis, Insulin ... |
ORPHA:90153 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Joint laxity, Broad-based gait, Osteomyelitis, Cataract, Bicuspid aortic valve, Ventricular septa... |
OMIM:619475 |
X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Hypospadias, Double outlet right ventricle, Developmental cataract, Mi... |
ORPHA:163956 |
Mevalonic Aciduria |
|
Cataract, Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating C-reac... |
OMIM:610377 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Cataract, Band keratopathy, Enamel hypomineralization, Bicarbonaturia, Bicarbo... |
ORPHA:47159 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Fatigue, Hepatomegaly, Dyspnea, Chest pain, Pulmonary arterial hypertension |
ORPHA:422 |
Pelizaeus-Merzbacher Disease |
|
Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Spastic paraplegia, Abnorm... |
OMIM:312080 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Camptodactyly of finger, Thenar muscle atrophy, Splenomegaly, Kyphosis, Contracture... |
OMIM:607015 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Recurrent hypoglycemia, Truncal ataxia, Gait ataxia |
OMIM:616817 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness, ... |
OMIM:615512 |
Rett Syndrome |
|
Skeletal muscle atrophy, Apnea, Intermittent hyperventilation, Kyphosis, Gait apraxia, Gait ataxi... |
OMIM:312750 |
Adams-Oliver Syndrome |
|
Congenital hepatic fibrosis, Ascites, Cirrhosis, Portal hypertension |
ORPHA:974 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Scoliosis |
ORPHA:276630 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Failure to thrive, Ventricular septal defect, Shoulder flexion contracture, Dela... |
OMIM:210710 |
Nephronophthisis 3 |
|
Hepatic fibrosis |
OMIM:604387 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dystonia, Sp... |
OMIM:614381 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Weight loss, Keratoconjunctivitis sicca, Abnormality of connective tissue, Rheumato... |
ORPHA:79128 |
Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia |
OMIM:130600 |
Fish-Eye Disease |
|
Splenomegaly, Decreased HDL cholesterol concentration, Hepatomegaly |
ORPHA:79292 |
Immunodeficiency 32B |
|
Hepatomegaly, Sinusitis, Pneumonia, Splenomegaly, Bronchiectasis, Hypoalbuminemia |
OMIM:226990 |
Zimmermann-Laband Syndrome 3 |
|
Kyphosis, Flexion contracture |
OMIM:618658 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Lethargy, Hypoglycemia, Hypocalcemia |
OMIM:607143 |
Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Impaired glucose tolerance, Hypospadias, Maturity-onset diabetes of the young,... |
OMIM:137920 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia |
OMIM:616095 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Increased bone mineral density, Cataract, Diaphyseal sclerosis, Hyperphosphatemia, Co... |
ORPHA:94089 |
Familial Isolated Hypoparathyroidism |
|
Abnormal dental enamel morphology, Nephropathy, Cataract, Hypocalcemia |
ORPHA:2238 |
Idiopathic Pulmonary Hemosiderosis |
|
Fatigue, Hepatomegaly, Crackles, Cardiomegaly, Dyspnea, Hepatosplenomegaly, Restrictive ventilato... |
ORPHA:99931 |
Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia |
ORPHA:95232 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundice, Hepatitis, Ch... |
OMIM:194380 |
Arima Syndrome |
|
Hepatomegaly, Ataxia, Dyspnea, Tachypnea, Hepatic fibrosis, Cirrhosis, Hepatic steatosis |
OMIM:243910 |
Papillorenal Syndrome |
|
Joint laxity, Renal malrotation, Multicystic kidney dysplasia, Cataract, Proteinuria, Lens luxati... |
OMIM:120330 |
D-Glyceric Aciduria |
|
Hypoglycemia, Nonketotic hyperglycinemia |
OMIM:220120 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Hepatomegaly, Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Encopresis, Inability to ... |
OMIM:618443 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Hepatic fibrosis |
OMIM:224230 |
Shigellosis |
|
Hyponatremia, Hypoglycemia, Peritonitis, Rhabdomyolysis, Abnormal blood ion concentration, Choles... |
ORPHA:810 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Respiratory i... |
OMIM:618291 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Congenital hepatic fibrosis |
ORPHA:2031 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Jaundice, Elevated circulatin... |
OMIM:613095 |
Mohr-Tranebjaerg Syndrome |
|
Generalized dystonia, Dystonia, Tremor, Babinski sign, Abnormal pyramidal sign, Focal dystonia, A... |
ORPHA:52368 |
Alg9-Cdg |
|
Omphalocele, Hepatomegaly, Hypoplasia of the bladder, Ventricular septal defect, Lipodystrophy, U... |
ORPHA:79328 |
Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Impaired glucose tolerance, Kyphosis, Glucose intolerance, Hypokalemia, ... |
OMIM:219090 |
Atrial Septal Defect, Ostium Primum Type |
|
Fatigue, Exercise intolerance, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Airway... |
ORPHA:99106 |
Nephronophthisis 11 |
|
Hepatic fibrosis |
OMIM:613550 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Hepatic fibrosis |
OMIM:613989 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Weakness of facial musculature, Neonatal hypoglycemia, Increased blood urea nitrogen |
OMIM:223360 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Hypoglycemia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyper... |
ORPHA:95409 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Poor head control, Ataxia, Dysmetria, Athetosis, Generalized amyotrophy, Difficulty walking, Musc... |
ORPHA:572798 |
Autosomal Recessive Ataxia, Beauce Type |
|
Impaired vibratory sensation, Skeletal muscle atrophy, Ataxia, Urinary incontinence, Kyphosis, Dy... |
ORPHA:88644 |
Serotonin Syndrome |
|
Rhabdomyolysis, Hepatic failure, Tachypnea |
ORPHA:43116 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypospadias |
OMIM:610644 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Spasticity |
OMIM:616586 |
Holocarboxylase Synthetase Deficiency |
|
Tachypnea, Hyperammonemia, Hyperventilation |
OMIM:253270 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Hepatomegaly, Facial palsy |
OMIM:615085 |
Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hypocalcemia, Hepatic f... |
OMIM:218330 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Elevated hepatic transaminase, Small cervical vertebral bodies, Apnea, Tachypnea, Recurrent aspir... |
ORPHA:397715 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Griscelli Syndrome |
|
Hepatomegaly, Ataxia, Splenomegaly, Jaundice, Hepatitis, Ascites, Abnormal circulating lipid conc... |
ORPHA:381 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Bowel incontinence, Kyphosis, Respiratory insufficiency, Choreoathetosis, Gait disturbanc... |
ORPHA:702 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:615530 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Hypoglycemia, Prolonged neonatal jaundice |
OMIM:233600 |
Crisponi Syndrome |
|
Camptodactyly of finger, Sudden cardiac death, Kyphosis, Flexion contracture, Respiratory insuffi... |
ORPHA:1545 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Kyphosis, Congenital contracture, Joint contracture of the 5th finger, Scoliosis, Arthrogryposis ... |
ORPHA:352490 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Hepatic steatosis, Choreoathetosis, Neonatal hypoglycemia |
ORPHA:445038 |
Migraine, Familial Hemiplegic, 2 |
|
Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia |
OMIM:602481 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Short neck, Kyphosis, Hepatosplenomegaly, Ascites |
OMIM:608776 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Jaundice, Hyperkalemia, Hypoglycemia |
ORPHA:90790 |
Gm1 Gangliosidosis |
|
Ataxia, Camptodactyly of finger, Hyperlordosis, Kyphosis, Splenomegaly, Aplasia/Hypoplasia of the... |
ORPHA:354 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Cirrhosis, Decreased serum iron, Chronic hepatitis |
OMIM:614602 |
Mast Cell Sarcoma |
|
Fatigue, Hepatomegaly, Splenomegaly |
ORPHA:66661 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Distal amyotrophy, Scoliosis, Congenital foot contractures |
ORPHA:3454 |
Wieacker-Wolff Syndrome |
|
Neonatal respiratory distress, Apnea, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Congenit... |
OMIM:314580 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Elevated circulating creatinine concentration, Hemoglobinuria, Hypokalemia,... |
ORPHA:90038 |
Baralle-Macken Syndrome |
|
Inability to walk, Kyphosis, Urinary incontinence |
OMIM:619255 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Waddling gait, Lumbar hyperlordosis, Limb joint contracture, Increased in... |
ORPHA:93314 |
Hyperzincemia With Functional Zinc Depletion |
|
Increased serum zinc, Hepatomegaly |
OMIM:601979 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Fasting hypoglycemia |
ORPHA:436174 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Cataract, Diabetes mellitus, Elevated circulating creatine kinase concentration, Ataxia, Dilated ... |
ORPHA:254892 |
Kaposiform Lymphangiomatosis |
|
Pericardial effusion, Fractures of the long bones, Splenomegaly, Osteolysis, Hepatosplenomegaly, ... |
ORPHA:464329 |
Mirage Syndrome |
|
Hyponatremia, Hypoplastic spleen, Hyperkalemia, Hypoglycemia |
OMIM:617053 |
Mucopolysaccharidosis, Type Ivb |
|
Hepatomegaly, Ataxia, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, ... |
OMIM:253010 |
Cold Agglutinin Disease |
|
Back pain, Hepatomegaly, Fatigue, Splenomegaly, Arthralgia |
ORPHA:56425 |
Mirizzi Syndrome |
|
Dark urine, Hyperbilirubinemia |
ORPHA:521219 |
Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ... |
ORPHA:85451 |
Tenorio Syndrome |
|
Macroglossia, Hypoglycemia, Hypoinsulinemia, Gait disturbance |
OMIM:616260 |
Smith-Kingsmore Syndrome |
|
Hypoglycemia, Diastasis recti |
OMIM:616638 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Inguinal hernia, Cataract, Ventricular septal defect, Multicystic kidney dyspl... |
ORPHA:500095 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Inguinal hernia, Cataract, Hypospadias, Ataxia, Small for gestational age, Hyperammonemia, Umbili... |
OMIM:614052 |
Rabson-Mendenhall Syndrome |
|
Enlarged ovaries, Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insul... |
ORPHA:769 |
Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Ataxia, Splenomegaly, Hypoplastic vertebral bodies, Platyspondyly, Gait disturbance... |
OMIM:230600 |
Argininemia |
|
Hepatomegaly, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Portal fibrosis, Hyperarginine... |
OMIM:207800 |
Griscelli Syndrome Type 2 |
|
Splenomegaly, Hepatomegaly, Hyperlipidemia, Jaundice |
ORPHA:79477 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Skeletal muscle atrophy, Hypoventilation, Apnea, Facial palsy, Kyphosis, Stridor, Scoliosis, Arth... |
OMIM:617143 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Tremor, Rigidity, Blepharospasm, Spastic dysarthria, Bradykinesia, Oculomotor apraxia |
ORPHA:240094 |
Premature Aging Syndrome, Okamoto Type |
|
Diabetes mellitus, Cataract, Osteoporosis |
OMIM:601811 |
Alexander Disease |
|
Diabetes mellitus, Ataxia, Facial palsy, Sudden cardiac death, Hyperlordosis, Short neck, Kyphosi... |
ORPHA:58 |
Reynolds Syndrome |
|
Calcinosis, Hepatomegaly, Splenomegaly, Hyperbilirubinemia, Steatorrhea |
OMIM:613471 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Osteoporosis, Increased body weight, Increased circulating cort... |
OMIM:615954 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Hepatomegaly, Elevated circulating C-reactive protein concentration, Spleno... |
OMIM:612852 |
Glucocorticoid Deficiency 2 |
|
Recurrent hypoglycemia |
OMIM:607398 |
Congenital Myopathy 22B, Severe Fetal |
|
Waddling gait, Hepatomegaly, Thoracic scoliosis, Scapular winging, Hip contracture, Shoulder flex... |
OMIM:620369 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Umbilical hernia, Increased circulating thyroglobulin level, Hyperbilirubinemia |
OMIM:218700 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Hypoglycemia, Ataxia, Jaundice, Hyperammonemia, Elevat... |
ORPHA:79282 |
Denys-Drash Syndrome |
|
Posterolateral diaphragmatic hernia, Diffuse mesangial sclerosis, Congenital diaphragmatic hernia... |
OMIM:194080 |
Post-Traumatic Pituitary Deficiency |
|
Hypoglycemia |
ORPHA:95619 |
Meckel Syndrome 14 |
|
Hepatic fibrosis |
OMIM:619879 |
Dahlberg-Borer-Newcomer Syndrome |
|
Renal insufficiency, Cataract, Mitral valve prolapse, Hypocalcemia, Nephropathy |
ORPHA:1563 |
Ck Syndrome |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:300831 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Abdominal pain, Pulmonary embolism, Arthralgia, Hypoalbuminemia, Ascites, Hypoprote... |
OMIM:226300 |
3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Flexion contracture, Choreoathetosis, Hepatic steatosis, Neonatal hypoglycemia |
OMIM:616271 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Hepatomegaly, Hyperlordosis, Hypoplasia of the odontoid process, Insulin-resistant diabetes melli... |
OMIM:226980 |
Spondyloepiphyseal Dysplasia Congenita |
|
Waddling gait, Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hy... |
OMIM:183900 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Chronic fatigue, Hypercalcemia, Respir... |
ORPHA:97282 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Nemaline bodies, Hypoglycemia, Elbow contracture |
OMIM:620275 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Kyphosis, Abnormal form of the ... |
ORPHA:2635 |
Yellow Fever |
|
Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Pancreatic hyper... |
ORPHA:99829 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Kyphosis, Arthrogryposis multiplex congenita, Scoliosis |
OMIM:615834 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, S... |
ORPHA:280365 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Abdominal pain, Hypersplenism, Kyphosis, Splenomegaly, Bone pain, Cirrhosis, Pulmon... |
ORPHA:77259 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Buphthalmos, Cataract, Elevated circulating creatine kinase concentration |
ORPHA:370997 |
Coronary Arterial Fistula |
|
Orthopnea, Cardiomegaly, Tachypnea, Pulmonary arterial hypertension, Exertional dyspnea |
ORPHA:2041 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Waddling gait, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal... |
ORPHA:94068 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Kyphosis, Apnea, Scoliosis |
OMIM:619797 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:1354 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Dyspnea, ... |
OMIM:610505 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Hypercalcemia, Splenomegaly, Elbow flexion contracture, Macroglossia, Thoracic kyph... |
OMIM:618440 |
Srd5A3-Cdg |
|
Elevated hepatic transaminase, Kyphosis, Abnormal sacrum morphology, Ataxia |
ORPHA:324737 |
Double Outlet Right Ventricle |
|
Tachypnea, Hypocalcemia |
ORPHA:3426 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Urinary incontinence, Facial palsy, Short neck, Kyphosis, Achilles tendon contra... |
OMIM:301041 |
Lymphoproliferative Syndrome 1 |
|
Splenomegaly, Increased circulating ferritin concentration, Elevated circulating C-reactive prote... |
OMIM:613011 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Diastasis recti, Short neck, Hypoplas... |
OMIM:253220 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Macronodular cirrhosis, Hep... |
OMIM:620005 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Broad-based gait, Splenomegaly, Abnormality of the spleen, Ophthalmoplegia, Limb ataxia, Hepatosp... |
ORPHA:2072 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Failure to thrive, Decreased serum iron, Corneal erosion, Flexion contracture, Dilated cardiomyop... |
ORPHA:89842 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly |
ORPHA:2786 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital muscular torticollis, Hypoglycemia, Ataxia, Unsteady gait, Contracture of the proximal... |
ORPHA:457279 |
Necrotizing Enterocolitis |
|
Hyponatremia, Small for gestational age, Abnormal heart morphology, Abnormal glucose homeostasis,... |
ORPHA:391673 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia |
OMIM:615962 |
Addison Disease |
|
Hyponatremia, Hypoglycemia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyper... |
ORPHA:85138 |
Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Short neck, Kyphosis, Splenomegaly, Flexion contracture, Asthma, Recurrent pneumoni... |
OMIM:309900 |
Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Cardiomegaly, Kyphosis, Abnormality of the gallbladder, Ante... |
ORPHA:349 |
Steinert Myotonic Dystrophy |
|
Diabetes mellitus, Inability to walk, Insulin resistance, Posterior subcapsular cataract, Dilated... |
ORPHA:273 |
Basilicata-Akhtar Syndrome |
|
Neonatal hypoglycemia, Camptodactyly |
OMIM:301032 |
Mcdonough Syndrome |
|
Kyphosis, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis |
ORPHA:2471 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Gmppb-Related Limb-Girdle Muscular Dystrophy R19 |
|
Cardiomyopathy, Dilatation of the ventricular cavity, Cataract, Elevated circulating creatine kin... |
ORPHA:363623 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyramidal sign, Abnor... |
OMIM:614298 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... |
OMIM:615947 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Increased serum iron, Elevated ... |
ORPHA:300298 |
Perry Syndrome |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:168605 |
Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatomegaly, Hepatic cysts |
OMIM:617004 |
Sandhoff Disease |
|
Hepatomegaly, Skeletal muscle atrophy, Ataxia, Cardiomegaly, Hepatosplenomegaly, Macroglossia, Mu... |
OMIM:268800 |
19P13.12 Microdeletion Syndrome |
|
Short neck, Kyphosis, Hyperlipidemia, Scoliosis, Arthrogryposis multiplex congenita, Hepatic stea... |
ORPHA:254346 |
Shashi-Pena Syndrome |
|
Hypoglycemia, Kyphosis, Scoliosis, Cervical C2/C3 vertebral fusion, Limb hypertonia |
OMIM:617190 |
Pancreatic And Cerebellar Agenesis |
|
Diabetes mellitus, Hypoglycemia, Flexion contracture, Hyperglycemia, Pancreatic hypoplasia, Pancr... |
OMIM:609069 |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Tachypnea |
OMIM:245050 |
Cerebrotendinous Xanthomatosis |
|
Cataract, Ataxia, Osteoporosis, Xanthelasma, Abnormal circulating cholesterol concentration, Diff... |
OMIM:213700 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Gait disturbance, Diastasis recti, Neonatal hypoglycemia |
ORPHA:457485 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Periodic paralysis |
OMIM:613239 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis |
OMIM:615761 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Kyphosis, Contracture of the... |
OMIM:130060 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Torticollis, Hypoglycemia, Inability to walk by childhood/adolescence, Choreoathetosis, Athetosis |
OMIM:620224 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Chronic fatigue, Hypercalcemia, Intrah... |
ORPHA:97283 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Ataxia, Splenomegaly, Decreased serum zinc, Lethargy |
OMIM:201100 |
Medullary Thyroid Carcinoma |
|
Abnormal liver parenchyma morphology |
ORPHA:1332 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Distal lower limb amyotrophy, Kyphosis, Macroglossia, Gait ataxia |
OMIM:300354 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Lim... |
OMIM:618056 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating C-reactive protein conc... |
OMIM:615688 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Increased serum iron, Elevated hepatic iron concentration |
OMIM:206100 |
Proprotein Convertase 1/3 Deficiency |
|
Hypoinsulinemia, Reactive hypoglycemia |
OMIM:600955 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Hypoglycemia, Macroglossia, Prolonged neonatal jaundice, Lethargy, Abnormal circulating thyroglob... |
ORPHA:226307 |
Al Amyloidosis |
|
Fatigue, Hepatomegaly, Increased circulating NT-proBNP concentration, Nonproductive cough, Dyspne... |
ORPHA:85443 |
Multiple Endocrine Neoplasia, Type I |
|
Insulinoma, Pancreatic islet cell adenoma, Hypercalcemia, Hypoglycemia |
OMIM:131100 |
O'Sullivan-Mcleod Syndrome |
|
Tremor, Fasciculations |
ORPHA:99965 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Neonatal hypoglycemia |
ORPHA:90791 |
Reynolds Syndrome |
|
Fatigue, Hepatomegaly, Jaundice, Respiratory insufficiency, Myalgia, Cirrhosis, Ascites |
ORPHA:779 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Inability to walk, Kyphosis, Flexion contracture, Distal amyotrophy, Scoliosis |
OMIM:609541 |
Hall-Riggs Syndrome |
|
Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis |
OMIM:234250 |
Schaaf-Yang Syndrome |
|
Kyphosis, Inability to walk, Flexion contracture, Scoliosis, Camptodactyly, Arthrogryposis multip... |
OMIM:615547 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Hypoglycemia |
ORPHA:397590 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Ataxia, Apnea, Dyspnea, Chorea, Ragged-red muscle fibers, Low plasma citrulline, Ep... |
ORPHA:255210 |
Diastrophic Dysplasia |
|
Camptodactyly of finger, Kyphosis, Abnormal form of the vertebral bodies, Respiratory insufficien... |
ORPHA:628 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hepatomegaly, Lumbar hyperlordosis, Short neck, Splenomegaly, Platyspondyly, Scoliosis, Vertebral... |
OMIM:602557 |
Immunodeficiency, Common Variable, 10 |
|
Hypoglycemia |
OMIM:615577 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1548 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypophosphatemic rickets, Nephrocalcinosis, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Short-Rib Thoracic Dysplasia 12 |
|
Splenomegaly, Hepatomegaly, Periportal fibrosis, Ascites |
OMIM:269860 |
Marburg Hemorrhagic Fever |
|
Elevated hepatic transaminase, Hypoglycemia, Elevated circulating creatine kinase concentration, ... |
ORPHA:99826 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Hepatomegaly, Hyperammonemia, Hyperglycinemia, Lethargy |
OMIM:251110 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Ataxia, Clonus, Upper limb postural tremor, Action tremor, Tremor, Head titubation, Babinski sign... |
ORPHA:99027 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia |
ORPHA:1578 |
Zimmermann-Laband Syndrome 2 |
|
Macroglossia, Kyphosis, Short neck |
OMIM:616455 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Kyphosis, Gait disturbance, Scoliosis |
ORPHA:2181 |
Fabry Disease |
|
Conjunctival telangiectasia, Abnormal endocardium morphology, Glomerulopathy, Cataract, Corneal o... |
ORPHA:324 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Neonatal hypoglycemia, Hypoglycemic seizures |
OMIM:262600 |
Perlman Syndrome |
|
Hypoglycemia, Congenital diaphragmatic hernia, Hypoplasia of the abdominal wall musculature, Panc... |
OMIM:267000 |
Johanson-Blizzard Syndrome |
|
Joint laxity, Hepatomegaly, Diabetes mellitus, Ventricular septal defect, Hypospadias, Increased ... |
OMIM:243800 |
Bruck Syndrome 1 |
|
Hip contracture, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Vertebral wedgin... |
OMIM:259450 |
Kleefstra Syndrome 2 |
|
Kyphosis, Scoliosis |
OMIM:617768 |
Congenital Disorder Of Glycosylation, Type Im |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level |
OMIM:610768 |
Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Cor triatrium sinister, Penoscrotal hypospadias, Ventricular septal defect,... |
OMIM:618280 |
Orofaciodigital Syndrome I |
|
Pancreatic cysts, Hepatic fibrosis, Hepatic cysts |
OMIM:311200 |
Acute Liver Failure |
|
Elevated hepatic transaminase, Hypoglycemia, Ataxia, Jaundice, Hepatitis, Hepatic necrosis, Hyper... |
ORPHA:90062 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Hypoglycemia, Hepatosplenomegaly, Cholecystitis, Cholelithiasis |
OMIM:301066 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Restrictive ventilatory defect, Respiratory failure, Interstitial pne... |
OMIM:620296 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Hepatomegaly, Respiratory failure, Increased circulating very long-chain fatty acid concentration |
OMIM:614862 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Congenital muscular torticollis, Skeletal muscle atrophy, Camptodactyly of finger, Kyphosis, Dysp... |
ORPHA:2215 |
Bruck Syndrome |
|
Kyphosis, Respiratory insufficiency, Platyspondyly, Scoliosis, Arthrogryposis multiplex congenita |
ORPHA:2771 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Hepatic fibrosis |
OMIM:263520 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Congenital diaphragmatic hernia... |
ORPHA:2311 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Cataract, Recurrent fractures, Rickets, Stage 5 chronic kidney disease, Renal Fanconi syndrome, G... |
OMIM:268315 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Hyperglycemia, Re... |
ORPHA:79474 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Hyperbilirubinemia |
ORPHA:562639 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture, Bone pain, Gait disturbance |
ORPHA:85193 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity |
OMIM:618527 |
Glucocorticoid Deficiency 1 |
|
Recurrent hypoglycemia |
OMIM:202200 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Short neck, Kyphosis, Splenomegaly, Hypoplastic vertebral bodies, Scoliosis, Beakin... |
OMIM:230500 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Skeletal muscle atrophy, Abdominal wall muscle weakness, Hypoglycemia, Myopathy, Muscle weakness |
ORPHA:109 |
Pearson Syndrome |
|
Hepatomegaly, Renal insufficiency, Cataract, Diabetes mellitus, Proteinuria, Ataxia, Small for ge... |
ORPHA:699 |
Joubert Syndrome 2 |
|
Central apnea, Ataxia, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:608091 |
Gaucher Disease, Type I |
|
Hepatomegaly, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Bone pain, Pulmonary arterial hype... |
OMIM:230800 |
Sjögren-Larsson Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:816 |
Sheehan Syndrome |
|
Hyponatremia, Hypoglycemia, Muscle weakness |
ORPHA:91355 |
Genitopalatocardiac Syndrome |
|
Congenital diaphragmatic hernia, Kyphosis, Abnormal mesentery morphology, Abnormality of the gall... |
ORPHA:2075 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive gait ataxia, Head ... |
OMIM:606002 |
Klatskin Tumor |
|
Fatigue, Hepatomegaly, Cholangiocarcinoma, Abdominal pain, Jaundice, Extrahepatic cholestasis |
ORPHA:99978 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Skeletal muscle atrophy, Limb joint contracture, Ataxia, Splenomegaly, Micronodular... |
OMIM:301072 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia, Ketotic hypoglycemia, Hypoglycemic seizures |
ORPHA:361 |
Hip Dysplasia, Beukes Type |
|
Kyphosis, Scoliosis |
ORPHA:2114 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Neonatal hypoglycemia |
OMIM:617600 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Kyphosis, Vertebral segmentation defect, Scoliosis |
ORPHA:2617 |
Jaberi-Elahi Syndrome |
|
Broad-based gait, Kyphosis, Inability to walk, Dysmetria, Gait ataxia, Choreoathetosis, Scoliosis |
OMIM:617988 |
Oculodentodigital Dysplasia |
|
Hypoglycemia, Camptodactyly of finger, Ataxia, Gait disturbance, Muscle weakness |
ORPHA:2710 |
Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Apnea, Elevated circulating creatine kinase concentration, Short neck, W... |
ORPHA:800 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Elevated hepatic transaminase, Hyperinsulinemia, Biliary cirrhosis, Glucose intolerance, Cholesta... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Elevated hepatic transaminase, Hyperinsulinemia, Biliary cirrhosis, Glucose intolerance, Cholesta... |
ORPHA:99228 |
Monosomy X |
|
Elevated hepatic transaminase, Hyperinsulinemia, Biliary cirrhosis, Glucose intolerance, Cholesta... |
ORPHA:99226 |
Turner Syndrome |
|
Elevated hepatic transaminase, Hyperinsulinemia, Biliary cirrhosis, Glucose intolerance, Cholesta... |
ORPHA:881 |
Orofaciodigital Syndrome Type 6 |
|
Episodic tachypnea, Ataxia, Apnea, Gait disturbance |
ORPHA:2754 |
Hypomelanosis Of Ito |
|
Kyphosis, Scoliosis |
OMIM:300337 |
Polycythemia Vera |
|
Fatigue, Hepatomegaly, Epistaxis, Portal hypertension, Abdominal pain, Portal vein thrombosis, Sp... |
ORPHA:729 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h... |
OMIM:269700 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyce... |
OMIM:608594 |
Alg12-Cdg |
|
Hyponatremia, Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Hypocholest... |
ORPHA:79324 |
Helsmoortel-Van Der Aa Syndrome |
|
Joint laxity, Recurrent urinary tract infections, Obesity, Mitral valve prolapse, Abnormal heart ... |
OMIM:615873 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Arthralgia, Hump-shaped mou... |
OMIM:313400 |
Pituitary Apoplexy |
|
Hyponatremia, Hypoglycemia |
ORPHA:95613 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of ... |
ORPHA:508533 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ataxia, Increased circulating ... |
ORPHA:158048 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Myositis, Hypertriglyceridemia, Sinusitis, Splenomeg... |
OMIM:617591 |
Sotos Syndrome |
|
Glucose intolerance, Neonatal hypoglycemia, Prolonged neonatal jaundice |
OMIM:117550 |
Holoprosencephaly |
|
Hyponatremia, Diabetes mellitus, Hypoglycemia, Congenital diaphragmatic hernia, Abnormality of th... |
ORPHA:2162 |
Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase conc... |
ORPHA:904 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Kyphoscoliosis, Kyphosis, Elbow flexion contracture, Abnormal curvature of the vertebral column, ... |
ORPHA:93360 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Skeletal muscle atrophy, Hypolysinemia, Increased circulating ferritin concentratio... |
OMIM:222700 |
Goodpasture Syndrome |
|
Fatigue, Crackles, Cough, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Chest pain, ... |
OMIM:233450 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Neonatal respiratory distress, Ataxia, Fetal ascites, Splenomegaly, Jaundice, Respi... |
OMIM:607625 |
Postencephalitic Parkinsonism |
|
Camptocormia, Akinesia, Kyphosis, Abnormal respiratory system physiology, Paresthesia, Cough |
ORPHA:97349 |
Desbuquois Dysplasia 1 |
|
Waddling gait, Neonatal respiratory distress, Hyperlordosis, Short neck, Kyphosis, Platyspondyly,... |
OMIM:251450 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Myositis, Skeletal muscle atrophy, Splenomegaly, Flexion contracture |
OMIM:619183 |
Familial Mediterranean Fever |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Abdominal pain, Splenomegaly... |
OMIM:249100 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1858 |
Immunodeficiency 31C |
|
Fatigue, Hepatomegaly, Skeletal muscle atrophy, Diabetes mellitus, Splenomegaly, Bronchiectasis, ... |
OMIM:614162 |
Joubert Syndrome 8 |
|
Hyperventilation, Hepatomegaly, Ataxia, Prolonged neonatal jaundice |
OMIM:612291 |
Endocrine-Cerebroosteodysplasia |
|
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney |
OMIM:612651 |
Frank-Ter Haar Syndrome |
|
Kyphosis, Beaking of vertebral bodies, Camptodactyly of finger, Scoliosis |
ORPHA:137834 |
Thanatophoric Dysplasia |
|
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis, Respiratory insufficiency |
ORPHA:2655 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Ataxia, Kyphosis, Platyspondyly, Hypocalcemia, Difficulty walking |
OMIM:618476 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Ataxia, Respiratory ... |
ORPHA:77293 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Unconjugated hyperbilirubinemia, Atrial septal defect, Patent foramen ovale, Iris coloboma, Right... |
OMIM:620186 |
Mucopolysaccharidosis Type 6 |
|
Sinusitis, Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis, Macroglossia |
ORPHA:583 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Hypoventilation, Kyphosis, Inability to walk, Unsteady gait, Elbow flexion contr... |
OMIM:618493 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Chronic fatigue, Hypercalcemia, Intrah... |
ORPHA:97280 |
Transcobalamin Ii Deficiency |
|
Hepatomegaly, Ataxia, Muscle weakness, Lethargy |
OMIM:275350 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Multiple lipomas, Nephroblastoma, Lipoatrophy, Enlarged kidney |
ORPHA:276280 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Fatigue, Scapular winging, Pain insensitivity, Kyphosis, Scoliosis |
OMIM:617061 |
Weismann-Netter Syndrome |
|
Kyphosis, Horizontal sacrum, Scoliosis |
OMIM:112350 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ketonuria, Neonatal insulin-dependent diabetes mellitus, Ataxia, Abnormality o... |
ORPHA:99885 |
Smith-Mccort Dysplasia 1 |
|
Waddling gait, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability... |
OMIM:607326 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney |
OMIM:613091 |
Hurler Syndrome |
|
Hepatomegaly, Short neck, Hypoplasia of the odontoid process, Kyphosis, Splenomegaly, Flexion con... |
OMIM:607014 |
Omenn Syndrome |
|
Splenomegaly, Hepatomegaly, Hypoproteinemia |
OMIM:603554 |
Sarcoidosis |
|
Fatigue, Hepatomegaly, Hypercalcemia, Portal hypertension, Facial palsy, Dyspnea, Pneumothorax, B... |
ORPHA:797 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Proteinuri... |
OMIM:609049 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Neonatal hyperbilirubinemia, Vesicovaginal fistula, Atrial septal defect, Ureteropelvic junction ... |
OMIM:300896 |
Atelis Syndrome 2 |
|
Sacral dimple, Dyspnea, Kyphosis, Hyperinsulinemia, Dysmetria |
OMIM:620185 |
Pseudoachondroplasia |
|
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly,... |
OMIM:177170 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Bone pain, Abn... |
ORPHA:2062 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Thoracic scoliosis, Hypertriglyceridemia, Sacral dimple, Diabetes mellitus, Kyphoscoliosis, Impai... |
ORPHA:536532 |
Mosaic Trisomy 9 |
|
Camptodactyly of finger, Short neck, Asplenia, Hemivertebrae, Abnormal liver lobulation, Scoliosis |
ORPHA:99776 |
Pituitary Stalk Interruption Syndrome |
|
Hypoglycemia |
ORPHA:95496 |
Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Platyspondyly, Scoliosis |
OMIM:259440 |
Silver-Russell Syndrome |
|
Insulin resistance, Recurrent hypoglycemia, Decreased muscle mass |
ORPHA:813 |
Becker Nevus Syndrome |
|
Shoulder girdle muscle atrophy, Kyphosis, Spina bifida occulta, Scoliosis |
ORPHA:64755 |
Cockayne Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Diabetes mellitus, Ataxia, ... |
ORPHA:191 |
Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Hyperuricemia |
ORPHA:261222 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Joint contracture, Hypoglycemia |
OMIM:618005 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Lumbar hyperlordosis, Urinary incontinence, Bowel incontinen... |
OMIM:616482 |
Achondroplasia |
|
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Hypoxemia, Restrictive ventilatory defect,... |
ORPHA:15 |
Arthrogryposis, Distal, Type 4 |
|
Torticollis, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal arthrogryposis,... |
OMIM:609128 |
Thanatophoric Dysplasia Type 2 |
|
Kyphosis, Platyspondyly, Respiratory insufficiency |
ORPHA:93274 |
Menkes Disease |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Hypoglycemia, Muscle weakness, Prolonged ne... |
ORPHA:565 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Flexion contracture, Hypoglycemia |
OMIM:616007 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Neonatal hypoglycemia |
OMIM:608624 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Athetosis, Ataxia, Fasting hypoglycemia |
ORPHA:25 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis |
ORPHA:77300 |
4Q21 Microdeletion Syndrome |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:238750 |
Simpson-Golabi-Behmel Syndrome |
|
Hepatomegaly, Hypoglycemia, Camptodactyly of finger, Congenital diaphragmatic hernia, Splenomegal... |
ORPHA:373 |
Camurati-Engelmann Disease |
|
Waddling gait, Hepatomegaly, Skeletal muscle atrophy, Ataxia, Facial palsy, Hyperlordosis, Kyphos... |
ORPHA:1328 |
Pycnodysostosis |
|
Hyperlordosis, Kyphosis, Chronic pain, Hepatosplenomegaly, Stridor, Spondylolysis, Scoliosis, Spo... |
ORPHA:763 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Pain insensitivity, Facial hypotonia, Kyphosis, Scoliosis, Abnormality of muscle size |
ORPHA:364028 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Increased proinsulin:in... |
OMIM:106210 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Scoliosis |
OMIM:300676 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Kyphosis, Joint contracture of the 5th finger, Camptodactyly of finger, Scoliosis |
ORPHA:1883 |
Meckel Syndrome |
|
Accessory spleen, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancreatic cysts, C... |
ORPHA:564 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia |
OMIM:146500 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck |
ORPHA:2522 |
Rhizomelic Syndrome, Urbach Type |
|
Kyphosis, Abnormal form of the vertebral bodies, Short neck |
ORPHA:3098 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis |
OMIM:615433 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Flexion contracture, Neonatal hypoglycemia |
ORPHA:35173 |
Urban-Rogers-Meyer Syndrome |
|
Kyphosis, Flexion contracture of toe, Camptodactyly of finger, Short neck |
ORPHA:3409 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Neonatal respiratory distress, Multiple joint contractures, Thoracolumbar scoliosis, Congenital d... |
OMIM:265000 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Congenital muscular torticollis, Kyphosis, Hemivertebrae, Abnormal form of the ... |
ORPHA:2916 |
Cerebral Visual Impairment |
|
Neonatal hypoglycemia |
ORPHA:447788 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating... |
ORPHA:289548 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Kyphosis, Inability to walk, Recurrent pneumonia, Pulmonary arterial hypertension, Scoliosis, Dif... |
ORPHA:464738 |
Emanuel Syndrome |
|
Sacral dimple, Torticollis, Congenital diaphragmatic hernia, Kyphosis, Scoliosis, Recurrent sinus... |
OMIM:609029 |
15Q24 Microdeletion Syndrome |
|
Kyphosis, Congenital diaphragmatic hernia, Scoliosis |
ORPHA:94065 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypoventilation, Ataxia, Micr... |
OMIM:203700 |
Spondyloenchondrodysplasia |
|
Pneumonia, Kyphosis, Chorea, Hepatitis, Platyspondyly, Myalgia, Lower limb pain |
ORPHA:1855 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Urinary incontinence, Hypercalcemia, Kyphosis, Gait ataxia, Scoliosis |
ORPHA:476126 |
Mucopolysaccharidosis Type 4 |
|
Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Gait disturbance, Scol... |
ORPHA:582 |
Stickler Syndrome, Type I |
|
Kyphosis, Platyspondyly, Arthralgia, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, ... |
OMIM:108300 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Inguinal hernia, Ventricular septal defect, Hypospadias, Congenital diaphragmatic h... |
OMIM:312870 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis, Kyphosis, Gait ataxia, Difficulty walking... |
ORPHA:457359 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Multiple joint contractures, Ataxia, Reduced thyroxin-binding glob... |
ORPHA:79318 |
Clark-Baraitser syndrome |
|
Kyphosis, Scoliosis |
OMIM:300602 |
Leptospirosis |
|
Respiratory distress, Hepatomegaly, Abdominal pain, Jaundice, Rhabdomyolysis, Hepatitis, Hyperpro... |
ORPHA:509 |
Ruvalcaba Syndrome |
|
Kyphosis, Scoliosis |
OMIM:180870 |
Generalized Glucocorticoid Resistance Syndrome |
|
Hypokalemia, Hypoglycemia |
ORPHA:786 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Macroglossia, Hypoglycemia |
OMIM:614501 |
Mucolipidosis Type Ii |
|
Hip contracture, Respiratory failure requiring assisted ventilation, Diastasis recti, Splenomegal... |
ORPHA:576 |
Marden-Walker Syndrome |
|
Decreased muscle mass, Short neck, Kyphosis, Congenital contracture, Scoliosis, Camptodactyly, Jo... |
OMIM:248700 |
Pontocerebellar Hypoplasia, Type 17 |
|
Kyphosis, Respiratory insufficiency, Limb hypertonia |
OMIM:619909 |
Prader-Willi Syndrome |
|
Hypoventilation, Decreased muscle mass, Impaired pain sensation, Kyphosis, Hyperinsulinemia, Type... |
OMIM:176270 |
Dyggve-Melchior-Clausen Disease |
|
Waddling gait, Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Pl... |
OMIM:223800 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Abnormal pyramidal sign, C... |
OMIM:234200 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Hepatomegaly, Neonatal respiratory distress, Impaired pain sensation, Kyphosis, Scoliosis |
OMIM:619005 |
Joubert Syndrome 5 |
|
Central apnea, Ataxia, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:610188 |
Aortic Arch Interruption |
|
Respiratory distress, Tachypnea, Left ventricular hypertrophy, Postexertional symptom exacerbatio... |
ORPHA:2299 |
Cystic Fibrosis |
|
Hepatomegaly, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Asth... |
OMIM:219700 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Thoracic scoliosis, Skeletal muscle atrophy, Knee flexion contracture |
OMIM:603387 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Double outlet left ventricle, Diabetes mellitus, Ventricular septal defect,... |
OMIM:600001 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Macroglossia, Kyphosis, Scoliosis |
ORPHA:79107 |
Pelger-Huet Anomaly |
|
Kyphosis, Lower limb hypertonia, Foot dorsiflexor weakness |
OMIM:169400 |
Trisomy 20P |
|
Camptodactyly of finger, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Vertebral s... |
ORPHA:261318 |
Kikuchi-Fujimoto Disease |
|
Fatigue, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Elevated circulating C-reactive pro... |
ORPHA:50918 |
Poland Syndrome |
|
Diabetes mellitus, Congenital diaphragmatic hernia, Short neck, Kyphosis, Aplasia of the pectoral... |
ORPHA:2911 |
Alström Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ataxia, Portal hypertension, S... |
ORPHA:64 |
3M Syndrome |
|
Scapular winging, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis |
ORPHA:2616 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Kyphosis, Asthma, Flexion contracture, Gait disturbance, Scoliosis |
ORPHA:500055 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Urinary incontinence, Kyphosis, Hypopnea, Restrictive ventilatory defect,... |
OMIM:619482 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Pulmonary arterial hypertension, Tachypnea |
OMIM:613834 |
Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Biconcave vertebral bodies, Pulmonary arterial hypertension, Scoliosis |
OMIM:259420 |
Weismann-Netter Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3344 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Recurrent hypoglycemia, Hyperkalemia |
ORPHA:293978 |
Deeah Syndrome |
|
Hepatomegaly, Neonatal hypoglycemia, Exocrine pancreatic insufficiency |
OMIM:619004 |
Rett Syndrome, Congenital Variant |
|
Kyphosis, Chorea, Athetosis, Scoliosis, Aspiration |
OMIM:613454 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Renal lymphocytic tubulitis, Cataract, Elevated circulating C-reactive protein concentration, Ant... |
ORPHA:91500 |
Brachyolmia Type 3 |
|
Kyphosis, Platyspondyly, Scoliosis, Short neck |
OMIM:113500 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Impaired temperature sensation, Kyphosis, Flexion contracture, Type II diabetes mellitus, Scoliosis |
ORPHA:398069 |
Fountain Syndrome |
|
Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3219 |
Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Kyphosis, Abnormal form of the vertebral bodies, Gait disturbance, Scoli... |
ORPHA:192 |
Kabuki Syndrome 2 |
|
Neonatal hypoglycemia |
OMIM:300867 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sacral dimple, Ataxia, Short neck, Kyphosis, Prominent protruding coccyx, Prominent coccyx, Gait ... |
OMIM:300966 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Macroglossia, Kyphosis, Scoliosis |
ORPHA:261144 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Kyphosis, Short neck |
ORPHA:3082 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Urinary incontinence, Bowel incontinence, Kyphosis, Dysmetria, Lower limb hypertonia, Dysdiadocho... |
ORPHA:171629 |
Thanatophoric Dysplasia Type 1 |
|
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis, Respiratory insufficiency |
ORPHA:1860 |
X-Linked Intellectual Disability, Cabezas Type |
|
Broad-based gait, Camptodactyly of finger, Short neck, Kyphosis, Scoliosis |
ORPHA:85293 |
Eisenmenger Syndrome |
|
Fatigue, Exercise intolerance, Hepatomegaly, Respiratory distress, Elevated circulating C-reactiv... |
ORPHA:97214 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Kyphosis, Spina bifida occulta, Short neck |
ORPHA:2983 |
Trisomy 13 |
|
Kyphosis, Scoliosis |
ORPHA:3378 |
Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Renal steatosis, Increased LDL cholesterol concentration, Renal artery stenosis, ... |
ORPHA:391665 |
Trisomy 9P |
|
Kyphosis, Sacral dimple, Scoliosis, Short neck |
ORPHA:236 |
Ruvalcaba Syndrome |
|
Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis |
ORPHA:3121 |
Acro-Renal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae |
ORPHA:958 |
Dysostosis, Stanescu Type |
|
Hyperlordosis, Short neck, Kyphosis, Macroglossia, Scoliosis |
ORPHA:1798 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Insulin resistance, Decreased muscle mass, Fasting hypoglycemia |
ORPHA:96182 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Ataxia, Kyphosis, Interstitial emphysema, Bronchiectasis, Dysmetria, Knee flexion contracture |
OMIM:619708 |
3C Syndrome |
|
Kyphosis, Hemivertebrae, Scoliosis, Short neck |
ORPHA:7 |
Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Ataxia, Congenital diaphragmatic hernia, Kyphosis, Abnormality of the gallbladder,... |
ORPHA:280 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Repeated pneumothoraces, Congenital diaphragmatic hernia, Kyphosis, Scoliosis, Camptodactyly |
OMIM:617602 |
2P15P16.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Facial palsy, Kyphosis, Gait disturbance, Scoliosis |
ORPHA:261349 |
Classic Homocystinuria |
|
Elevated hepatic transaminase, Hepatomegaly, Pulmonary embolism, Kyphosis, Scoliosis |
ORPHA:394 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Decreased muscle mass, Short neck, Kyphosis, Scoliosis, Biconcave vertebral bodies |
OMIM:130720 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Kyphosis, Scoliosis |
ORPHA:404440 |
Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Kyphosis, Splenomegaly, Fle... |
ORPHA:90324 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Short neck, Kyphosis, Respiratory insufficiency, Scoliosis, T... |
ORPHA:140 |
Cardiofacioneurodevelopmental Syndrome |
|
Asplenia, Kyphosis, Abdominal situs inversus, Camptodactyly |
OMIM:619123 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Kyphosis, Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia |
OMIM:239000 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Kyphosis, Recurrent pneumonia, Pulmonary arterial hypertension, Scoliosis |
OMIM:616449 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, Tip-toe gait, Scol... |
OMIM:618050 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Apnea, Kyphosis, Respiratory insufficiency, Contractures of the large joints, Hypomimic face |
OMIM:617527 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Axial dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Retrocollis, Limb d... |
OMIM:601104 |
Lateral Meningocele Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis |
ORPHA:2789 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Kyphosis, Pancreatitis |
OMIM:610475 |
Plaa-Associated Neurodevelopmental Disorder |
|
Apnea, Kyphosis, Respiratory insufficiency, Contractures of the large joints, Limb hypertonia |
ORPHA:521426 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Apnea, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Stridor,... |
OMIM:602535 |
Alkaptonuria |
|
Vertebral fusion, Low back pain, Diminished physical functioning, Kyphosis, Arthralgia, Thickened... |
OMIM:203500 |
Marfanoid Habitus With Situs Inversus |
|
Kyphosis, Scoliosis |
OMIM:609008 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Waddling gait, Lumbar hyperlordosis, Camptodactyly of finger, Kyphoscoliosis, Short neck, Kyphosi... |
OMIM:143095 |
Double Outlet Left Ventricle |
|
Tachypnea, Cardiomegaly |
ORPHA:3427 |
Orofaciodigital Syndrome Type 2 |
|
Tachypnea, Apnea |
ORPHA:2751 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Kyphosis, Camptodactyly of finger, Scoliosis |
OMIM:619951 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Vertebral segmentation defect, Kyphosis, Scoliosis |
ORPHA:96169 |
Renal Agenesis, Bilateral |
|
Nonketotic hypoglycemia |
ORPHA:1848 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Kyphosis, Hypotrophy of the small hand muscles, Scoliosis, Spond... |
OMIM:610443 |
Tropical Endomyocardial Fibrosis |
|
Fatigue, Hepatomegaly, Orthopnea, Cardiomegaly, Splenomegaly, Dyspnea, Myocardial calcification, ... |
ORPHA:75565 |
Acromegaly |
|
Fatigue, Diabetes mellitus, Kyphosis, Spinal canal stenosis, Macroglossia, Arthralgia, Paresthesia |
ORPHA:963 |
15Q14 Microdeletion Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:261190 |
Somatomammotropinoma |
|
Fatigue, Diabetes mellitus, Kyphosis, Spinal canal stenosis, Macroglossia, Arthralgia, Paresthesia |
ORPHA:314769 |
Osteogenesis Imperfecta |
|
Somatic sensory dysfunction, Neonatal respiratory distress, Ataxia, Cervical kyphosis, Trigeminal... |
ORPHA:666 |
Hajdu-Cheney Syndrome |
|
Hepatomegaly, Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Splenomegaly, Bone pain, Ar... |
ORPHA:955 |
Distal Triplication 15Q |
|
Kyphosis, Flexion contracture, Scoliosis, Camptodactyly |
ORPHA:314588 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Kyphosis, Skeletal muscle atrophy |
OMIM:219080 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Kyphosis, Vertebral segmentation defect, Scoliosis |
ORPHA:1005 |
3-Methylglutaconic Aciduria, Type Viii |
|
Jaundice, Neonatal hypoglycemia |
OMIM:617248 |
Cockayne Syndrome A |
|
Hip contracture, Hepatomegaly, Ataxia, Splenomegaly, Kyphosis, Gait disturbance |
OMIM:216400 |
Microphthalmia, Lenz Type |
|
Kyphosis, Camptodactyly of finger, Scoliosis, Hyperlordosis |
ORPHA:568 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Kyphoscoliosis, Kyphosis, Hemivertebrae, Macroglossia, Scoliosis |
OMIM:301040 |
Holt-Oram Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:392 |
Noonan Syndrome 14 |
|
Kyphosis, Scapular winging, Short neck |
OMIM:619745 |
Harrod Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2115 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... |
OMIM:618019 |
Cole-Carpenter Syndrome 2 |
|
Kyphosis, Platyspondyly |
OMIM:616294 |
Chromosome Xq26.3 Duplication Syndrome |
|
Kyphosis, Arthralgia, Body odor |
OMIM:300942 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Hypoglycemia, Hyperkalemia, Camptodactyly, Joint contracture of the hand, Decreased... |
OMIM:201750 |
Primrose Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Diabetes mellitus, Ataxia, Elevated circulating alpha-f... |
OMIM:259050 |
Spondyloperipheral Dysplasia |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly |
OMIM:271700 |
Familial Osteodysplasia, Anderson Type |
|
Kyphosis, Scoliosis, Hyperuricemia, Abnormal form of the vertebral bodies |
ORPHA:2769 |
Smith-Lemli-Opitz Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Kyphosis, Abnormality of the gallbladder, Abnormal f... |
ORPHA:818 |
Truncus Arteriosus |
|
Tachypnea, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:3384 |
Weaver Syndrome |
|
Diastasis recti, Kyphosis, Scoliosis, Camptodactyly, Joint contracture of the hand |
OMIM:277590 |
Cole-Carpenter Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2050 |
Costello Syndrome |
|
Macroglossia, Achilles tendon contracture, Hypoglycemia, Rhabdomyosarcoma |
OMIM:218040 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Kyphosis, Flexion contracture, Abnormal form of the vertebral bodies, Irregular ... |
ORPHA:3042 |
X-Linked Intellectual Disability, Snyder Type |
|
Decreased muscle mass, Kyphoscoliosis, Kyphosis, Inability to walk, Unsteady gait, Camptodactyly |
ORPHA:3063 |
Aspartylglucosaminuria |
|
Hepatomegaly, Kyphosis, Macroglossia, Platyspondyly, Spondylolysis, Scoliosis, Beaking of vertebr... |
OMIM:208400 |
Micro Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2510 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ataxia, Kyphoscoliosis, Cardiomegaly, Kyphosis, Left ventricular noncompaction, Scoliosis, Right ... |
OMIM:300967 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:617821 |
2Q31.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Short neck, Kyphosis, Vertebral segmentation defect, Scoliosis |
ORPHA:251014 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ankle flexion contracture, Kyphosis, Gait disturbance, Scoliosis, Flexion contracture of finger, ... |
ORPHA:464311 |
Mgat2-Cdg |
|
Respiratory distress, Kyphosis, Scoliosis |
ORPHA:79329 |
1P36 Deletion Syndrome |
|
Camptodactyly of finger, Kyphosis, Abnormality of the spleen, Spinal canal stenosis, Myopathy, Ab... |
ORPHA:1606 |
16Q24.3 Microdeletion Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:261250 |
Cowden Syndrome 5 |
|
Kyphosis, Scoliosis |
OMIM:615108 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Kyphosis, Scapular winging |
OMIM:616914 |
Cockayne Syndrome B |
|
Splenomegaly, Kyphosis, Ataxia, Hepatomegaly |
OMIM:133540 |
Marfan Syndrome |
|
Skeletal muscle atrophy, Arthralgia/arthritis, Chronic fatigue, Spontaneous pneumothorax, Kyphosi... |
ORPHA:558 |
Cowden Syndrome 6 |
|
Kyphosis, Scoliosis |
OMIM:615109 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Hyperkalemia, Neonatal hypoglycemia, Hypochloremia |
ORPHA:90794 |
Mend Syndrome |
|
Sacral dimple, Kyphosis, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Limb hypertonia |
ORPHA:401973 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Kyphosis, Gait disturbance, Scoliosis, Abnormality of the cervical s... |
ORPHA:464306 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal joint of the 4th... |
OMIM:618223 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Gait ataxia, Kyphosis, Scoliosis, Hyperlordosis |
OMIM:617011 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Kyphosis |
OMIM:619244 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Camptodactyly of finger, Kyphosis, Abnormal form of the vertebral bodies... |
ORPHA:2461 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Kyphosis, Scoliosis |
OMIM:177850 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Sacral dimple, Short neck, Kyphosis, Scoliosis, Camptodactyly |
OMIM:616894 |
Occipital Horn Syndrome |
|
Kyphosis, Platyspondyly, Decreased circulating ceruloplasmin concentration, Decreased circulating... |
OMIM:304150 |
Cowden Syndrome 1 |
|
Kyphosis, Scoliosis |
OMIM:158350 |
Cono-Spondylar Dysplasia |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:420794 |
Cohen Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:193 |
Multiple Endocrine Neoplasia, Type Iib |
|
Kyphosis, Myopathy, Scoliosis, Hyperlordosis |
OMIM:162300 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Kyphosis, Bilateral camptodactyly, Scoliosis |
OMIM:619557 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Congenital hepatic fibrosis |
ORPHA:93271 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Short neck, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Macro... |
OMIM:619194 |
Osteogenesis Imperfecta, Type Iv |
|
Kyphosis, Biconcave flattened vertebrae, Scoliosis |
OMIM:166220 |
Frank-Ter Haar Syndrome |
|
Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Prominent coccyx, Camptodactyly |
OMIM:249420 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Neonatal respiratory distress, Kyphosis, Spondylolysis, Scoliosis, Spondylo... |
OMIM:119600 |
Occipital Horn Syndrome |
|
Kyphosis, Jaundice, Hepatitis, Cholestasis, Platyspondyly, Scoliosis |
ORPHA:198 |
Monosomy 9Q22.3 |
|
Kyphosis, Abnormality of the vertebral column, Rhabdomyosarcoma, Short neck |
ORPHA:77301 |
Zttk Syndrome |
|
Absent gallbladder, Kyphosis, Flexion contracture, Hemivertebrae, Scoliosis |
OMIM:617140 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Sacral dimple, Hyperlordosis, Kyphosis, Scoliosis, Tracheomalacia, Spondylol... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Sacral dimple, Hyperlordosis, Kyphosis, Scoliosis, Tracheomalacia, Spondylol... |
ORPHA:363958 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Kyphosis, Scoliosis, Skeletal muscle atrophy |
ORPHA:1969 |
Autosomal Recessive Robinow Syndrome |
|
Sacral dimple, Camptodactyly of finger, Short neck, Kyphosis, Vertebral segmentation defect, Scol... |
ORPHA:1507 |
Sotos Syndrome |
|
Sacrococcygeal teratoma, Hip contracture, Hypercalcemia, Ankle flexion contracture, Kyphosis, Bil... |
ORPHA:821 |
Orofaciodigital Syndrome Iii |
|
Kyphosis |
OMIM:258850 |
Osteogenesis Imperfecta, Type Viii |
|
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis |
OMIM:610915 |
Cowden Syndrome |
|
Ataxia, Enlarged polycystic ovaries, Kyphosis, Macroglossia, Scoliosis |
ORPHA:201 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati... |
ORPHA:1724 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Sacral dimple, Broad-based gait, Ataxia, Kyphosis, Gait disturbance, Scoliosis |
ORPHA:268261 |
Non-Acquired Panhypopituitarism |
|
Hypoglycemia |
ORPHA:90695 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Vertebral fusion, Sacral dimple, Decreased muscle mass, Kyphosis, Biliary tract... |
OMIM:194190 |
Osteoporosis-Pseudoglioma Syndrome |
|
Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres... |
OMIM:259770 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Small hypothenar eminence, Lumbar hyperlordosis, Thenar muscle atrophy, Kyphosis, Contracture of ... |
ORPHA:2232 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Sacroiliac arthritis |
OMIM:106300 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Kyphosis |
OMIM:610489 |
Holoprosencephaly 1 |
|
Hypoglycemia |
OMIM:236100 |
Stickler Syndrome |
|
Skeletal muscle atrophy, Kyphosis, Bone pain, Spinal canal stenosis, Abnormal form of the vertebr... |
ORPHA:828 |
Shprintzen Omphalocele Syndrome |
|
Kyphosis, Neonatal respiratory distress, Lumbar hyperlordosis, Scoliosis |
OMIM:182210 |
Cdags Syndrome |
|
Kyphosis |
OMIM:603116 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Hypoglycemia |
ORPHA:95494 |
Lymphedema-Distichiasis Syndrome |
|
Kyphosis, Chylothorax |
OMIM:153400 |
Proteus Syndrome |
|
Decreased muscle mass, Sudden cardiac death, Pulmonary embolism, Enlarged polycystic ovaries, Kyp... |
ORPHA:744 |
Cerebrocostomandibular Syndrome |
|
Tracheomalacia, Kyphosis, Neonatal respiratory distress |
ORPHA:1393 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Kyphosis |
OMIM:609944 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Kyphosis, Facial palsy, Scoliosis |
ORPHA:2658 |
Coffin-Siris Syndrome 1 |
|
Sacral dimple, Congenital diaphragmatic hernia, Kyphosis, Gait ataxia, Scoliosis, Spina bifida oc... |
OMIM:135900 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Kyphosis, Scoliosis |
OMIM:619718 |
Neurofibromatosis Type 1 |
|
Kyphosis, Ataxia, Paresthesia, Scoliosis |
ORPHA:636 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Kyphosis |
ORPHA:85199 |
17Q11 Microdeletion Syndrome |
|
Rhabdomyosarcoma, Kyphosis, Pulmonary arterial hypertension, Abnormality of the vertebral column,... |
ORPHA:97685 |
Mend Syndrome |
|
Kyphosis, Sacral dimple |
OMIM:300960 |
Viss Syndrome |
|
Kyphosis, Asthma, Pneumothorax, Dyspnea, Macroglossia, Scoliosis, Pulmonary arterial hypertension... |
OMIM:619472 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedgi... |
OMIM:300106 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Camptodactyly of finger, Kyphosis, Platyspondyly, Abnormality of the vertebral column, Abnormal v... |
ORPHA:2273 |
Wrinkly Skin Syndrome |
|
Kyphosis, Scapular winging, Hypoplasia of the musculature, Scoliosis |
OMIM:278250 |
Coffin-Lowry Syndrome |
|
Kyphosis, Scoliosis, Lumbar kyphosis |
OMIM:303600 |
Ramon Syndrome |
|
Kyphosis, Scoliosis |
OMIM:266270 |
Branchiooculofacial Syndrome |
|
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Elbow flexion contracture, Duplication of inte... |
OMIM:113620 |
Yunis-Varon Syndrome |
|
Kyphosis, Anterior concavity of thoracic vertebrae, Aspiration pneumonia, Pulmonary arterial hype... |
OMIM:216340 |