Cystic Angiomatosis Of Bone, Diffuse |
|
Cystic angiomatosis of bone |
OMIM:123880 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi... |
OMIM:601098 |
Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Decreased motor nerve conduction velocity, Hand muscle weakness, Distal sensory impairment, Upper... |
OMIM:608323 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Impaired temperature sen... |
DECIPHER:29 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Distal lower limb amyotrophy, Foot dorsiflexor weakness, Failure to thrive in infancy, Decreased ... |
ORPHA:90103 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:118210 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Peripheral ax... |
OMIM:607706 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Elevated circulating creatine kinase concentration, First degree atrioventricular block, Peroneal... |
OMIM:181350 |
Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concent... |
OMIM:300257 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased motor nerve conduction velocity, Hand muscle atrophy, Peroneal muscle atrophy, Hand mus... |
ORPHA:98856 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Decreased motor nerve conduction velocity, Ankle flexion contracture, Decreased nerve conduction ... |
OMIM:611228 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Motor conduction block |
DECIPHER:31 |
Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Somatic sensory dysfunction, ... |
OMIM:612577 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Muscle fiber hyaline bodies, Elevated circulating creatine kinase concentra... |
OMIM:255160 |
Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Distal lower limb amyotrophy,... |
OMIM:613287 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Elevated circulating creatine kinase concentration, Sudden cardiac death, Centrally nucleated ske... |
OMIM:611705 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Proximal muscle weakness... |
OMIM:620068 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... |
OMIM:612999 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration/re... |
OMIM:614436 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Hand muscle weakness, Decreased nerve conduction velocity, Segmental... |
ORPHA:2932 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Decreased motor nerve conduction velocity, Distal amyotrophy, Distal sensory impairment |
OMIM:605589 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Impaired distal vibratio... |
OMIM:610100 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ... |
OMIM:608099 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Decreased motor nerve conduction velocity, Distal sensory impairment, Upper limb muscle weakness,... |
OMIM:302801 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Dista... |
OMIM:608673 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Y |
|
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Impaired dist... |
OMIM:616687 |
Polyglucosan Body Myopathy 2 |
|
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... |
OMIM:616199 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paralysis, Distal amyotrophy, Difficulty walking, Vocal cord paresis |
OMIM:158580 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Facial palsy, Polyhydramnios, Respiratory insufficiency due to muscle weakn... |
OMIM:300580 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Left atrial enlargement,... |
OMIM:160500 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Small hypothenar eminenc... |
OMIM:609311 |
Cardiomyopathy, Dilated, 1X |
|
Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati... |
OMIM:611615 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8 |
|
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Impaired pain sensation,... |
OMIM:618912 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Calf muscle pseudohypertrophy, Scapular winging, Reduced vital capacity, Centrally nucleated skel... |
OMIM:608358 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, First degree atrioventricular block, Cardiomegaly, Atrioventricular block, ... |
OMIM:115197 |
Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ... |
OMIM:302045 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Tachypnea, Atrioventricular block, Right ventricular dilatat... |
ORPHA:99106 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:605588 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Claw hand deformity, Upp... |
OMIM:606595 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral axonal degeneration, Skeletal muscle atrophy, Impaired distal proprioception, Hand mus... |
ORPHA:101097 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12 |
|
Decreased motor nerve conduction velocity, Peroneal muscle weakness, Peroneal muscle atrophy, The... |
OMIM:614751 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Autosomal Recessive Spastic Paraplegia Type 43 |
|
Impaired vibratory sensation, Ankle flexion contracture, Babinski sign, Knee flexion contracture,... |
ORPHA:320370 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Reduced muscle fiber alpha ... |
ORPHA:206559 |
Distal Hereditary Motor Neuropathy Type 5 |
|
Impaired vibratory sensation, Abnormal motor nerve conduction velocity, Thenar muscle atrophy, Th... |
ORPHA:139536 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... |
OMIM:214400 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Waddling gait, Spinal muscular atrophy, Type 2 muscle fiber predominance, Proximal muscle weaknes... |
OMIM:158600 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Peripheral axonal degene... |
OMIM:302800 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Caudate atrophy, Respiratory insufficienc... |
OMIM:617892 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Centrally nucleated ske... |
ORPHA:86812 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Hand muscle weakness, Segmental peripheral demyelinati... |
OMIM:162500 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Elevated circulating creatine kinase concentration, Respiratory insufficiency due to muscle weakn... |
OMIM:300718 |
Myopathy, Myofibrillar, 1 |
|
Facial palsy, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, Hypertrop... |
OMIM:601419 |
Hereditary Myopathy With Early Respiratory Failure |
|
Orthopnea, Reduced vital capacity, Skeletal muscle atrophy, Internally nucleated skeletal muscle ... |
ORPHA:178464 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... |
OMIM:613642 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Distal amyotrophy, Periphe... |
OMIM:605253 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... |
OMIM:601382 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... |
OMIM:606482 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Distal lower limb amyotrophy, Decreased compound muscle action potential amplitude, Impaired dist... |
OMIM:619519 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
Nonaka Myopathy |
|
Distal amyotrophy, Gait disturbance, EMG: myopathic abnormalities, Distal lower limb muscle weakn... |
OMIM:605820 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased number of large... |
OMIM:615376 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Elevated circulati... |
OMIM:604286 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Somatic sensory dysfunct... |
OMIM:600882 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:609260 |
Cirrhotic Cardiomyopathy |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Abnorma... |
ORPHA:57777 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Cerebellar atrophy, Decr... |
OMIM:607250 |
Hereditary Motor And Sensory Neuropathy V |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal sensory impairmen... |
OMIM:600361 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:607734 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2 |
|
Decreased motor nerve conduction velocity, Claw hand deformity, Spinal muscular atrophy, Decrease... |
OMIM:605726 |
Adult-Onset Nemaline Myopathy |
|
Reduced vital capacity, Respiratory insufficiency due to muscle weakness, Flexion contracture, In... |
ORPHA:171442 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Decreased motor nerve conduction velocity, Hand muscle atrophy, Onion bulb formation, Decreased d... |
OMIM:607684 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ac... |
OMIM:300696 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Decreased nerve conduction velocity |
OMIM:608236 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... |
OMIM:618655 |
Myopathy, Distal, Tateyama Type |
|
Elevated circulating creatine kinase concentration, Hand muscle weakness, Centrally nucleated ske... |
OMIM:614321 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Reduced forced ... |
OMIM:255310 |
Cardiomyopathy, Dilated, 1L |
|
Increased left ventricular end-diastolic volume, Reduced systolic function, Elevated circulating ... |
OMIM:606685 |
Triose Phosphate-Isomerase Deficiency |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Central nervous system degeneration |
ORPHA:868 |
X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Distal lower limb amyotrophy, Thenar muscle atrophy, Decreased nerve conduction velocity, Impaire... |
ORPHA:352675 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal musc... |
ORPHA:266 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased distal sensory ... |
ORPHA:206594 |
Spinal Muscular Atrophy, Type Iv |
|
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... |
OMIM:271150 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Facial palsy, Polyhydramnios, Respiratory insufficiency due to muscle weakness, Dilated cardiomyo... |
OMIM:161800 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J |
|
Decreased motor nerve conduction velocity, Thenar muscle atrophy, Distal sensory impairment |
OMIM:620111 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Decreased nerve conduction velocity, Paraparesis, Distal sensory impairment, Upper limb muscle we... |
OMIM:302802 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Abnormal pulmonary interstitial mo... |
ORPHA:330001 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Prolonged QRS complex, Apnea, Cardiomegaly, Pericardial effusion, Shortened... |
OMIM:261740 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Peripheral axonal neuropathy, Impaired distal proprioception, Paraparesis, Pain, Sciatica, Periph... |
ORPHA:231445 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Elevated circulating creatine kinase concentration, Reduced muscle fiber alpha dystroglycan, Dila... |
ORPHA:34515 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Myopathy, Limb-girdle... |
OMIM:612937 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Elevated circulating creatine kinase concentration, Quadriceps muscle weakness, Congestive heart ... |
ORPHA:206546 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Hand muscle atrophy, Skeletal muscle atrophy, Decreased nerve conduction velocity, Distal sensory... |
ORPHA:99944 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... |
OMIM:613954 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Tremor, Inability to walk, Ragged-red muscle fibers, Inc... |
ORPHA:276435 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Distal amyotrophy, Foot do... |
OMIM:607678 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Respiratory failure requiring assisted ventilation, Nemaline bodies, Increased variability in mus... |
OMIM:620265 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6 |
|
Decreased motor nerve conduction velocity, Lower limb muscle weakness, Spinal muscular atrophy, W... |
OMIM:615575 |
Sandhoff Disease, Adult Form |
|
Tremor, Gait ataxia, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Focal d... |
ORPHA:309169 |
Cardiomyopathy, Dilated, 1M |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:607482 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Claw hand deformity, Dec... |
OMIM:605285 |
Macular Degeneration, Age-Related, 3 |
|
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Distal amyotrophy, Distal sens... |
OMIM:608895 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Elevated circulating creatine kinase concentration, Fatty replacem... |
ORPHA:52430 |
Charcot-Marie-Tooth Disease Type 4A |
|
Impaired pain sensation, Impaired distal proprioception, Decreased nerve conduction velocity, Han... |
ORPHA:99948 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentration, ... |
OMIM:300376 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... |
OMIM:619897 |
Dpm3-Cdg |
|
Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weaknes... |
ORPHA:263494 |
Charcot-Marie-Tooth Disease Type 1B |
|
Skeletal muscle atrophy, Somatic sensory dysfunction, Peripheral axonal neuropathy, Decreased ner... |
ORPHA:101082 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Thenar muscle atrophy, Dilated cardiomyopathy, Distal lower limb muscle weakness, Interosseus mus... |
OMIM:619903 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Peripheral axonal... |
ORPHA:435387 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Hand muscle weakness, Resp... |
OMIM:606070 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Distal lower limb muscle weakness, Difficulty walking, Paralysis |
OMIM:608634 |
Trigeminal Neuralgia |
|
Somatic sensory dysfunction, Trigeminal neuralgia, Ocular pain, Cranial nerve compression, Parest... |
ORPHA:221091 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... |
OMIM:616040 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Clumsiness, Myopathy, Di... |
ORPHA:603 |
Welander Distal Myopathy |
|
Distal amyotrophy, Steppage gait, Rimmed vacuoles |
OMIM:604454 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Somatic sensory dysfunction, Peripheral axonal neuropathy, Decreased nerve conduction velocity, U... |
ORPHA:99939 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Cerebellar atrophy, Facial palsy, Elevated circulating creatine kinase concentration, Dyspnea, Ra... |
OMIM:615084 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hyperalaninemia, Apnea, Congestive heart failure, Bradycardia, Brain atr... |
OMIM:619048 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... |
OMIM:601596 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,... |
OMIM:619566 |
Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
Myopathy, Centronuclear, 5 |
|
Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Respiratory ... |
OMIM:615959 |
Myopathy, Myofibrillar, 3 |
|
Elevated circulating creatine kinase concentration, Achilles tendon contracture, Cardiomyopathy, ... |
OMIM:609200 |
Familial Isolated Restrictive Cardiomyopathy |
|
Orthopnea, Recurrent respiratory infections, Atrial fibrillation, Tricuspid regurgitation, Left a... |
ORPHA:75249 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased number of periphera... |
OMIM:618184 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Peripartum Cardiomyopathy |
|
Crackles, Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilat... |
ORPHA:563 |
Spinal Muscular Atrophy, Type Iii |
|
Pelvic girdle amyotrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cel... |
OMIM:253400 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Skeletal muscle atrophy, Reduced systolic function, Elevated circulating creatine kinase concentr... |
OMIM:616827 |
Cardiomyopathy, Dilated, 2A |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:611880 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Somatic sensory dysfunct... |
ORPHA:101077 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... |
OMIM:105550 |
Ravine Syndrome |
|
Apnea, Ataxia, Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem,... |
ORPHA:99852 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Cardiomegaly, Pericardial effusion, Optic atrophy, Hyperammonemia, Hyp... |
OMIM:614702 |
Charcot-Marie-Tooth Disease Type 1A |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Sensory ataxia, Distal sensor... |
ORPHA:101081 |
Mitochondrial Myopathy With Diabetes |
|
Ataxia, Facial palsy, Ragged-red muscle fibers, Babinski sign, Limb muscle weakness, Proximal amy... |
OMIM:500002 |
Muscle Filaminopathy |
|
Extremely elevated creatine kinase, Scapular winging, Fatty replacement of skeletal muscle, Left ... |
ORPHA:171445 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong... |
OMIM:604765 |
Congenital Myopathy 24 |
|
Scapular winging, Reduced vital capacity, Facial palsy, First degree atrioventricular block, Card... |
OMIM:617336 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Optic atrophy, Skeletal muscle hypertrophy,... |
ORPHA:99014 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Respiratory insufficiency due to muscle weakn... |
ORPHA:399058 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:180800 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Skeletal muscle atrophy, Onion bulb formation, Decreased nerve conduction velocity, Distal sensor... |
OMIM:615284 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Decreased compound muscle action potential amplitude, Vestibular schwannoma, Foot dorsiflexor wea... |
OMIM:613641 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... |
ORPHA:275872 |
Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... |
OMIM:605362 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Peripheral axonal degeneration, Skeletal muscle atrophy, Tremor, Dysmetria, Gait ataxia, Ataxia, ... |
OMIM:615157 |
Charcot-Marie-Tooth Disease Type 4G |
|
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Peripheral axonal neurop... |
ORPHA:99953 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... |
OMIM:618848 |
Congenital Myopathy 14 |
|
Hip contracture, Apnea, Respiratory insufficiency due to muscle weakness, Flexion contracture, El... |
OMIM:618414 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Proxima... |
OMIM:604484 |
Cardiomyopathy, Dilated, 1W |
|
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... |
OMIM:611407 |
Cardiomyopathy, Dilated, 1Cc |
|
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... |
OMIM:613122 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13 |
|
Distal lower limb amyotrophy, Decreased compound muscle action potential amplitude, Distal lower ... |
OMIM:619112 |
Leukodystrophy, Hypomyelinating, 18 |
|
Cerebellar atrophy, Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity... |
OMIM:618404 |
Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... |
ORPHA:168796 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Cerebellar atrophy, Decreased mitochondrial number, Elevated circulating creatine kinase concentr... |
ORPHA:352447 |
Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... |
ORPHA:98853 |
Proximal Myopathy With Extrapyramidal Signs |
|
Centrally nucleated skeletal muscle fibers, Optic atrophy, Cardiomyopathy, Increased variability ... |
ORPHA:401768 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Decreased n... |
OMIM:618138 |
Cardiomyopathy, Dilated, 1Ff |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... |
OMIM:613286 |
Congenital Myopathy 8 |
|
Reduced vital capacity, Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive hea... |
OMIM:618654 |
Cardiomyopathy, Dilated, 1Dd |
|
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... |
OMIM:613172 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased number of periphera... |
OMIM:614895 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... |
ORPHA:98855 |
Inclusion Body Myositis |
|
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... |
ORPHA:611 |
Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dyspnea, Dilated cardi... |
OMIM:612877 |
Complex Regional Pain Syndrome |
|
Somatic sensory dysfunction, Involuntary movements, Dysesthesia, Limb pain, Trophic changes relat... |
ORPHA:83452 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Facial palsy, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Elevated ci... |
OMIM:619424 |
Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Respiratory insufficiency due to muscle weakness, Intrinsic hand muscle atrophy, Cardiomyopathy, ... |
ORPHA:63273 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Ataxia |
OMIM:183050 |
Amyotrophic Lateral Sclerosis 19 |
|
Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis |
OMIM:615515 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... |
OMIM:616812 |
Ataxia-Deafness-Intellectual Disability Syndrome |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Ataxia, Cerebral cortical atrophy |
ORPHA:1188 |
Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... |
ORPHA:732 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Ataxia, Impaired pain sensation |
ORPHA:101078 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler... |
OMIM:602433 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia |
ORPHA:1216 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect, Apnea, Respiratory failure, Bradycardia, Brain atrophy, Atrophy/Degene... |
OMIM:616277 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity |
ORPHA:640 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Cryptorchidism, Dilated cardiomyopathy, Flexion contracture, Hydrops fetalis, Bradycardia, Hypert... |
OMIM:618815 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Pulmonary edema, Myocarditis, Cardiorespiratory arrest, Weight loss, Pedal edema, P... |
ORPHA:188 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Ankle contracture, Elevated circulating creatine kinase conce... |
OMIM:620386 |
Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... |
OMIM:620286 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis, Abnormal lower m... |
OMIM:602099 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Distal amyotrophy, Fiber type grouping |
OMIM:614369 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:607831 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Multiple joint contractures, Facial palsy, Spinal muscular atrophy, Respiratory insufficiency due... |
OMIM:301830 |
Cardiomyopathy, Dilated, 1Ee |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... |
OMIM:613252 |
Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Calf muscle pseudohypertrophy, Hypoventilation, Elevated circulating creatine kinas... |
OMIM:310200 |
Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Skeletal muscle atrophy, Foot joint contracture, Decreased nerve conduction velocity, Optic atrop... |
ORPHA:457205 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu... |
ORPHA:59135 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Skeletal muscle atrophy, Progressive distal muscular atrophy, Facial palsy, Spinal muscular atrop... |
OMIM:159950 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Decreased forced expiratory flow 25-75%, Camptodactyly of finger, Ankle flexion contracture, Cent... |
OMIM:617072 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Distal lower limb amyotrophy, Ataxia, Impaired pain sensation, Distal upper limb amyotrophy, Abno... |
ORPHA:101075 |
Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Apnea, Slender build, Thenar muscle atrop... |
OMIM:256030 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:118220 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Small for gestational age, Spinal muscular atrophy, Camptodactyly of finger, Decreased nerve cond... |
OMIM:604320 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... |
ORPHA:66529 |
Absence Of The Pulmonary Artery |
|
Cardiomegaly, Nonproductive cough, Pedal edema, Atrial septal defect, Patent foramen ovale, Abnor... |
ORPHA:980 |
Myopathy, Myofibrillar, 5 |
|
Waddling gait, Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber s... |
OMIM:609524 |
Cardiomyopathy, Dilated, 1Jj |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy |
OMIM:615235 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Respiratory insufficiency, Hypoplastic left ... |
OMIM:616276 |
Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ... |
OMIM:619279 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Respiratory insufficiency, Distal amyotrophy, Type 1 muscle fiber predominance, ... |
OMIM:619042 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Recurrent respiratory infections, Right axis deviation, Increased... |
OMIM:232300 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Elevated circulating c... |
OMIM:254110 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Scapular winging, Elevated circulating creatine kinase c... |
OMIM:619733 |
Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Ataxia, Urinary incontinence, Cachexia, Parkinsonism, Tremor, Chorea, Babinsk... |
OMIM:618093 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory failure, Apnea, Muscular dystrophy, Respiratory insufficiency |
OMIM:613869 |
Hydrops Fetalis |
|
Small for gestational age, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial eff... |
ORPHA:1041 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Skeletal muscle atrophy, Nonimmune hydrops fetalis, Portal hypertension, Po... |
ORPHA:367 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Dilated cardiomyopathy, Arrhythmia, Hypertrophic cardiomyopathy, Failur... |
OMIM:616198 |
Spastic Paraplegia 17, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Impaired distal proprioception, Thenar muscle atrophy,... |
OMIM:270685 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Skeletal muscle atrophy, Optic disc pallor, Apnea, Ataxia, Optic atrophy, Respiratory insufficien... |
OMIM:618228 |
Early-Onset X-Linked Optic Atrophy |
|
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Choreoathetos... |
ORPHA:98890 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... |
ORPHA:206549 |
Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Hand muscle atrophy, Clonus, Axonal degeneration, Distal amyotrophy, Tongue fasciculations, Weakn... |
OMIM:618811 |
Myasthenic Syndrome, Congenital, 17 |
|
Difficulty walking, Type 1 muscle fiber predominance |
OMIM:616304 |
Cardiomyopathy, Dilated, 1Kk |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... |
OMIM:615248 |
Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiorespiratory arrest |
ORPHA:34587 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... |
OMIM:601494 |
Childhood-Onset Nemaline Myopathy |
|
Scapular winging, Reduced vital capacity, Polyhydramnios, Respiratory insufficiency due to muscle... |
ORPHA:171439 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Fatty replacement of... |
OMIM:608807 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy |
ORPHA:217622 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602087 |
Spinal Muscular Atrophy, Type Ii |
|
Degeneration of anterior horn cells, Skeletal muscle atrophy, Spinal muscular atrophy, Hand tremor |
OMIM:253550 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Back pain, Somatic sensory dysfunction, Abdominal pain, Impaired tactile sensation, Hyperesthesia... |
ORPHA:51890 |
Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Thenar muscle atrophy, Thenar muscle weakness, Distal ... |
OMIM:118300 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Increased serum pyruvate, Congestive heart failure, Dyspnea, Dilated cardiomyopathy, Ragged-red m... |
ORPHA:1349 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Optic atrophy, Left ventri... |
OMIM:252011 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Amyotrophic lateral sc... |
OMIM:612069 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... |
ORPHA:542306 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morph... |
ORPHA:1145 |
Noonan Syndrome 8 |
|
Failure to thrive, Ventricular septal defect, Polyhydramnios, Large for gestational age, Cryptorc... |
OMIM:615355 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart |
ORPHA:3283 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Axonal degeneration, Diaphragmatic paralys... |
OMIM:620011 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Peripheral axonal degeneration, Cerebellar atrophy, Ataxia, Decreased number of large peripheral ... |
OMIM:208920 |
Familial Isolated Dilated Cardiomyopathy |
|
Myopathy, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
ORPHA:154 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Skeletal muscle atrophy, Absent P wave, First degree atrioventricular block, Sudden cardiac death... |
OMIM:310300 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Cataract |
ORPHA:79281 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary hyp... |
OMIM:614096 |
Cardiomyopathy, Dilated, 1Z |
|
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death |
OMIM:611879 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:118200 |
Cardiomyopathy, Dilated, 1Hh |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy |
OMIM:613881 |
Pontocerebellar Hypoplasia Type 1 |
|
Skeletal muscle atrophy, Ataxia, Optic atrophy, Congenital laryngeal stridor, Degeneration of ant... |
ORPHA:2254 |
Riboflavin Transporter Deficiency |
|
Skeletal muscle atrophy, Optic disc pallor, Ataxia, Facial palsy, Cachexia, Tremor, Abnormal auto... |
ORPHA:97229 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Episodic tachypnea, Elevated circulating creatine kinase concentration, Tac... |
ORPHA:26793 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... |
OMIM:601954 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Cerebellar atrophy, Cerebral atrophy, Respiratory insufficiency, Bradycardia, Left ventricular hy... |
OMIM:614654 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... |
OMIM:616201 |
Muscular Dystrophy, Cardiac Type |
|
Cardiomyopathy, Abnormal EKG, Muscular dystrophy, Elevated circulating creatine kinase concentration |
OMIM:309930 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Respiratory in... |
OMIM:608423 |
Roussy-Lévy Syndrome |
|
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Somatic sensory dysfunct... |
ORPHA:3115 |
Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Spinal muscular atrophy, Respiratory insufficiency, Hand tremor, Degeneration of anterior... |
OMIM:607596 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Cardiac arrest, Elevated circulating creatine kinase concentration, Rhab... |
OMIM:212138 |
Myopathy, Distal, 4 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... |
OMIM:614065 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Respiratory insuffi... |
ORPHA:600 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Apnea, Cardiac arrest, Cerebral atrophy, Bradycardia, Hypertrophic cardiomyopathy, Failure to thrive |
OMIM:618235 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Distal Nebulin Myopathy |
|
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... |
ORPHA:399103 |
Myopathy, Distal, 5 |
|
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... |
OMIM:617030 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Distal lower limb amyotrophy, Optic atrophy, Abnormality of the Achilles tendon, Abnormality of p... |
ORPHA:431329 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Muscle fiber inclusion bodies, Elevated circulating creatine kinase concentration, Centrally nucl... |
OMIM:615424 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Tricuspid regurgitation, Congestive heart failure, Chronic pulmonary obstru... |
ORPHA:2414 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... |
OMIM:610198 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Hand muscle atrophy, Hand muscle weakness, Vocal cord paralysis, Distal amyotrophy, Weakness of f... |
OMIM:607641 |
Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Motor neuron atrophy, Dyspnea, Abnormal r... |
ORPHA:803 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ty... |
OMIM:605809 |
Autosomal Dominant Spastic Paraplegia Type 17 |
|
Hand muscle atrophy, Abnormal motor nerve conduction velocity, Hand muscle weakness, Abnormality ... |
ORPHA:100998 |
Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Hypercholesterolemia, Increased variability in muscle fiber diamet... |
ORPHA:488650 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... |
ORPHA:70589 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Reduced forced vital capacity, Overweight, Z-band str... |
OMIM:619178 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Ataxia, Inability to walk, Ragged-red muscle fibers, Athetosis, Abnormality of extrapyramidal mot... |
OMIM:615159 |
Pleural Mesothelioma |
|
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal car... |
ORPHA:50251 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Reduced vital capacity, Ankle flexion contracture, Centrally nucleated s... |
OMIM:617760 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles, Elevated circulating creatine kinase ... |
OMIM:609500 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... |
ORPHA:3282 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
Heart-Hand Syndrome, Slovenian Type |
|
Myopathy, Dilated cardiomyopathy |
OMIM:610140 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Hypermethionin... |
OMIM:613752 |
Loeffler Endocarditis |
|
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda... |
ORPHA:75566 |
Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy |
OMIM:615426 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Myopathy, Optic atrophy, Apnea, Brain atrophy |
OMIM:618236 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:145900 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Facial palsy, Camptodactyly of finger, Abnormal motor nerve conduction velo... |
OMIM:614399 |
Autosomal Dominant Spastic Paraplegia Type 73 |
|
Distal lower limb amyotrophy, Lower limb spasticity, Urinary incontinence, Degeneration of the la... |
ORPHA:444099 |
Myopathy, Myofibrillar, 8 |
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Scapular winging, Reduced vital capacity, Elevated circulating creatine kinase concentration, Cen... |
OMIM:617258 |
Charcot-Marie-Tooth Disease Type 1F |
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Hand muscle atrophy, Absent brainstem auditory responses, Skeletal muscle atrophy, Hand muscle we... |
ORPHA:101085 |
Monomelic Amyotrophy |
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Degeneration of anterior horn cells, Distal upper limb amyotrophy, Tremor, Abnormality of periphe... |
ORPHA:65684 |
Striatonigral Degeneration, Infantile, Mitochondrial |
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Incoordination, Poor motor coordination, Clonus, Chorea, Ragged-red muscle fibers, Babinski sign,... |
OMIM:500003 |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
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Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculat... |
OMIM:181400 |
Charcot-Marie-Tooth Disease, Type 4D |
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Claw hand deformity, Abnormal auditory evoked potentials, Impaired distal proprioception, Decreas... |
OMIM:601455 |
Myoclonus, Intractable, Neonatal |
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Optic disc pallor, Apnea, Chorea, Athetosis, Increased variability in muscle fiber diameter |
OMIM:617235 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
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Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, Increased mito... |
ORPHA:263297 |
Progressive Familial Heart Block, Type Ia |
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Sudden cardiac death, Dyspnea, Left posterior fascicular block, Right bundle branch block, Syncop... |
OMIM:113900 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
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Cataract |
ORPHA:1397 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
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Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Respira... |
OMIM:255100 |
Cardiomyopathy, Dilated, 2C |
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Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy |
OMIM:618189 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
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Abnormal EKG, Optic atrophy, Cardiomyopathy, Lower limb hypertonia, Generalized amyotrophy, Lower... |
ORPHA:1177 |
Sudden Infant Death Syndrome |
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Apneic episodes in infancy |
OMIM:272120 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
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Cerebellar atrophy, Somatic sensory dysfunction, Torticollis, Limb ataxia, Gait ataxia, Atrophy/D... |
OMIM:619862 |
Infant Acute Respiratory Distress Syndrome |
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Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ... |
ORPHA:70587 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
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Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:615490 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
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Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo... |
ORPHA:98912 |
Long Qt Syndrome 15 |
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Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Acute Interstitial Pneumonia |
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Crackles, Elevated circulating C-reactive protein concentration, Nodular pattern on pulmonary HRC... |
ORPHA:79126 |
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
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Central apnea, Cerebellar atrophy, Low anterior hairline, Cerebral atrophy, Dysmetria, Gait ataxi... |
ORPHA:320385 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
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Respiratory insufficiency due to muscle weakness, Flexion contracture, Respiratory failure, Incre... |
OMIM:300717 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
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Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... |
ORPHA:98863 |
Hemochromatosis, Type 1 |
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Cardiomegaly, Congestive heart failure, Increased circulating ferritin concentration, Telangiecta... |
OMIM:235200 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
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Cachexia, Abdominal pain, Hypoesthesia, Ragged-red muscle fibers, Distal sensory impairment, Weig... |
OMIM:603041 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
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Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
Muscular Dystrophy, Congenital, Megaconial Type |
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Facial palsy, Elevated circulating creatine kinase concentration, Mitochondrial hypertrophy, Dila... |
OMIM:602541 |
Congenital Myopathy 1B, Autosomal Recessive |
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Skeletal muscle atrophy, Recurrent respiratory infections, Facial palsy, Polyhydramnios, Centrall... |
OMIM:255320 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
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Ataxia, Cachexia, Abdominal pain, Ragged-red muscle fibers, Weight loss, Slender build |
OMIM:613662 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
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Splenomegaly, 3-Methylglutaconic aciduria, Cataract |
OMIM:619813 |
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
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Failure to thrive, Apneic episodes in infancy, Flexion contracture, Cerebral atrophy |
ORPHA:500545 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
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T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602086 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
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Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... |
OMIM:618129 |
Rhabdomyolysis, Susceptibility To, 1 |
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Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, R... |
OMIM:620235 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
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Small for gestational age, Centrally nucleated skeletal muscle fibers, Cryptorchidism, Flexion co... |
OMIM:618484 |
Mitochondrial Trifunctional Protein Deficiency 1 |
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Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... |
OMIM:609015 |
Myopathy, Centronuclear, 1 |
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Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
Ceroid Lipofuscinosis, Neuronal, 10 |
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Cerebellar atrophy, Apnea, Increased neuronal autofluorescent lipopigment, Ataxia, Respiratory in... |
OMIM:610127 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
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Central apnea, Respiratory failure, Global brain atrophy, Respiratory insufficiency |
OMIM:611722 |
Cardiomyopathy, Dilated, 1E |
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Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
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Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... |
OMIM:609115 |
King-Denborough Syndrome |
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Ventricular septal defect, Elevated circulating creatine kinase concentration, Centrally nucleate... |
OMIM:619542 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
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Amyotrophic lateral sclerosis, Lower limb muscle weakness, Weakness of the intrinsic hand muscles |
OMIM:614373 |
Myasthenic Syndrome, Congenital, 14 |
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Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... |
OMIM:616228 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
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Elevated circulating creatine kinase concentration, Reduced forced vital capacity, Achilles tendo... |
OMIM:607155 |
Carvajal Syndrome |
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Congestive heart failure, Dilated cardiomyopathy |
ORPHA:65282 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
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Axonal degeneration, Distal sensory impairment, Upper limb muscle weakness, Lower limb muscle wea... |
OMIM:616155 |
Desminopathy |
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Sudden cardiac death, Supraventricular arrhythmia, Respiratory insufficiency due to muscle weakne... |
ORPHA:98909 |
Null Syndrome |
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Ataxia, Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination, Abnormality... |
ORPHA:280234 |
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
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Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... |
OMIM:601846 |
X-Linked Centronuclear Myopathy |
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Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
ORPHA:596 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
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Decreased motor nerve conduction velocity, Ataxia, Impaired distal proprioception, Impaired dista... |
OMIM:616688 |
Nathalie Syndrome |
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Skeletal muscle atrophy, Abnormal EKG |
OMIM:255990 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
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Waddling gait, Calf muscle pseudohypertrophy, Reduced muscle fiber alpha dystroglycan, Ankle flex... |
ORPHA:280333 |
Cardiomyopathy, Familial Hypertrophic, 8 |
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Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... |
OMIM:608751 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
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Reduced vital capacity, Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture... |
OMIM:603689 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
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Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Proximal amyotrophy |
OMIM:608030 |
Barth Syndrome |
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Dilated cardiomyopathy, Abnormal mitochondrial morphology, Endocardial fibroelastosis |
ORPHA:111 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
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Recurrent respiratory infections, Multiple joint contractures, Centrally nucleated skeletal muscl... |
ORPHA:486815 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
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Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Ataxia, Acute rhabdomy... |
OMIM:604168 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
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Ragged-red muscle fibers, Limb muscle weakness, Cerebral atrophy, Cardiomyopathy, Bradycardia, Ar... |
OMIM:609286 |
Wild Type Abeta2M Amyloidosis |
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Dysesthesia, Decreased nerve conduction velocity, Abnormal tendon morphology, Macroglossia, Axona... |
ORPHA:85446 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Tachycardia, Heart block, Tachypnea, Elevated circulating creatinine concentration, Capillary lea... |
ORPHA:542323 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
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Amyotrophic lateral sclerosis, Respiratory failure |
OMIM:613435 |
Attrv122I Amyloidosis |
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Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... |
ORPHA:85451 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
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Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Muscular dystrophy, Bradycardi... |
OMIM:614302 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid regurgitation, A... |
ORPHA:1677 |
Immunodeficiency, Common Variable, 6 |
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Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
Microcephaly-Cardiomyopathy |
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Dilated cardiomyopathy |
OMIM:251220 |
Spastic Paraplegia 85, Autosomal Recessive |
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Impaired vibratory sensation, Cerebellar atrophy, Torticollis, Peripheral axonal neuropathy, Lowe... |
OMIM:619686 |
Aldh18A1-Related De Barsy Syndrome |
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Cataract |
ORPHA:35664 |
Myopathy, Myofibrillar, 2 |
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Orthopnea, Elevated circulating creatine kinase concentration, Respiratory insufficiency due to m... |
OMIM:608810 |
Cardiomyopathy, Dilated, 1K |
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Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
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Cerebellar atrophy, Respiratory distress, Increased serum pyruvate, Cardiac arrest, Basal ganglia... |
OMIM:604377 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
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Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... |
OMIM:117000 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
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Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Impaired distal proprioceptio... |
OMIM:162400 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
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Supraventricular arrhythmia, Optic atrophy, Cardiomyopathy, Leg muscle stiffness, Distal lower li... |
ORPHA:320360 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Atrial Fibrillation, Familial, 10 |
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Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... |
OMIM:614022 |
Combined Oxidative Phosphorylation Deficiency 31 |
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Increased variability in muscle fiber diameter, Left ventricular noncompaction, Increased intramy... |
OMIM:617228 |
Autosomal Recessive Spastic Paraplegia Type 25 |
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Lower limb pain, Paraparesis, Spastic paraplegia, Upper limb pain, Neck pain, Abnormality of peri... |
ORPHA:101005 |
Congenital Muscular Dystrophy, Fukuyama Type |
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Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Dilated cardiomyopathy, Flexion... |
ORPHA:272 |
Coronary Arterial Fistula |
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Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Pedal edema, Right ventr... |
ORPHA:2041 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Lower limb spasticity, Ataxia, Urinary in... |
ORPHA:300605 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Dehydration, Pulmonic s... |
ORPHA:79159 |
Hemochromatosis, Type 2A |
|
Congestive heart failure, Increased circulating ferritin concentration, Dilated cardiomyopathy, C... |
OMIM:602390 |
Congenital Myopathy 9B, Proximal, With Minicore Lesions |
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Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Cryptorchidism,... |
OMIM:618823 |
Alpers-Huttenlocher Syndrome |
|
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... |
ORPHA:726 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:205200 |
Kufor-Rakeb Syndrome |
|
Fatigue, Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic... |
OMIM:606693 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Skeletal muscle atrophy, Camptodactyly of finger, Impaired pain sensation, Muscular dystrophy, Ab... |
ORPHA:2926 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Skeletal muscle atrophy, Lower-limb joint contracture, Difficulty walking, Paralysis |
OMIM:613710 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi... |
ORPHA:137675 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Re... |
ORPHA:238329 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Patent foramen ovale, Bradycardia |
OMIM:617182 |
Congenital Myopathy 3 With Rigid Spine |
|
Reduced vital capacity, Failure to thrive, Decreased body weight, Facial palsy, Centrally nucleat... |
OMIM:602771 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:205250 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Peripheral axonal neuropathy, Decreased distal sensory nerve action potential, Distal amyotrophy,... |
OMIM:618400 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent duc... |
OMIM:601005 |
Galactosemia Ii |
|
Galactosuria, Cataract |
OMIM:230200 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Central apnea, Low anterior hairline, Dysmetria, Cerebral atrophy, Gait ataxia, Hypomimic face |
OMIM:615031 |
Myopathy, Centronuclear, 4 |
|
Abnormal circulating creatine kinase concentration, Type 1 muscle fiber predominance, Centrally n... |
OMIM:614807 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati... |
OMIM:615184 |
Ataxia-Pancytopenia Syndrome |
|
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Impaired vibration sensation in ... |
OMIM:159550 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Hypercap... |
OMIM:164310 |
Spastic Ataxia 4, Autosomal Recessive |
|
Spastic ataxia, Babinski sign, Optic atrophy, Limb ataxia, Gait ataxia, Lower limb hypertonia, Up... |
OMIM:613672 |
Avian Influenza |
|
Respiratory distress, Pneumonia, Elevated circulating creatine kinase concentration, Productive c... |
ORPHA:454836 |
Mast Syndrome |
|
Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Cerebral atrophy, Athetosi... |
OMIM:248900 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy |
OMIM:611283 |
Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Respiratory insufficiency, Proximal amyotrophy, Type 2 muscle fiber atrophy,... |
OMIM:160565 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle... |
ORPHA:169186 |
Zebra Body Myopathy |
|
Waddling gait, Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle... |
ORPHA:97240 |
Amyotrophic Lateral Sclerosis 1 |
|
Degeneration of anterior horn cells, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Dege... |
OMIM:105400 |
Lethal Congenital Contracture Syndrome 5 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Polyhydramnios, Ce... |
OMIM:615368 |
Atrial Standstill 1 |
|
Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at... |
OMIM:108770 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Clumsiness, Steppage gait, D... |
ORPHA:399086 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Steppage gait, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Achilles tendon contracture, Opt... |
OMIM:612674 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Dilated cardiomyopathy, Decreased body weight |
OMIM:618097 |
Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:611895 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Reduced forced vital capacit... |
OMIM:617066 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Ventricular septal defect, Edema, Polyhydramnios, Dilated cardiomyopathy... |
OMIM:607598 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, C... |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, C... |
OMIM:616437 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... |
OMIM:618782 |
Congenital Myopathy 18 |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, F... |
OMIM:620246 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Impaired pain sensation, Fatty replacement of skeletal muscle, Decreased compound muscle action p... |
OMIM:618279 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Distal lower limb muscle weakness, Paralysis |
OMIM:158590 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Tricuspid regurgitation, Polyhydramnios, Centrally nucleated s... |
OMIM:620351 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... |
OMIM:607459 |
Amyotrophic Lateral Sclerosis 8 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Postural tremor, Proximal amyotrophy, Dis... |
OMIM:608627 |
Familial Dyskinesia And Facial Myokymia |
|
Limb hypertonia, Dilated cardiomyopathy, Congestive heart failure, Facial myokymia |
ORPHA:324588 |
Spastic Paraplegia 75, Autosomal Recessive |
|
Distal lower limb amyotrophy, Cerebellar atrophy, Corpus callosum atrophy, Impaired distal vibrat... |
OMIM:616680 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, C... |
OMIM:613530 |
High Altitude Pulmonary Edema |
|
Orthopnea, Tachycardia, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema |
ORPHA:330012 |
Butyrylcholinesterase Deficiency |
|
Apnea |
OMIM:617936 |
Congenital Gerbode Defect |
|
Crackles, Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaf... |
ORPHA:99095 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Cardiac conducti... |
ORPHA:466677 |
Complete Atrioventricular Septal Defect |
|
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem... |
ORPHA:1329 |
Nemaline Myopathy 6 |
|
Skeletal muscle atrophy, Myopathy, Gait disturbance, Limb muscle weakness, Nemaline bodies |
OMIM:609273 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:604563 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Pontocerebellar Hypoplasia Type 4 |
|
Central apnea, Respiratory failure requiring assisted ventilation, Arthrogryposis multiplex conge... |
ORPHA:166063 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Elevated circulating creatine ... |
OMIM:253700 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Small for gestational age, Polyhydramnios, Cardiomegaly, Flexion contr... |
OMIM:616897 |
Cocaine Intoxication |
|
Respiratory distress, Prolonged QRS complex, Elevated circulating creatine kinase concentration, ... |
ORPHA:90068 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Right ventricular failure, Dy... |
ORPHA:199241 |
Distal Myotilinopathy |
|
Multiple joint contractures, Elevated circulating creatine kinase concentration, Cardiomyopathy, ... |
ORPHA:98911 |
Cardiomyopathy, Dilated, 2B |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr... |
OMIM:614672 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... |
OMIM:115200 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ataxia, Ragged-red muscle fibers, Myopathy, Myoclonus, Spasticity |
OMIM:545000 |
Hereditary Continuous Muscle Fiber Activity |
|
Ataxia, Congenital diaphragmatic hernia, Slurred speech, Type 1 muscle fiber predominance, Spasti... |
ORPHA:972 |
Cataract-Ataxia-Deafness Syndrome |
|
Decreased nerve conduction velocity, Ataxia |
ORPHA:1368 |
Cataract 47 |
|
Microcornea, Cataract, Glycosuria |
OMIM:612018 |
Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... |
ORPHA:2593 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Impaired pain sensation, Distal amyotrophy, Abnormal a... |
ORPHA:139578 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Limb... |
OMIM:615352 |
Miyoshi Muscular Dystrophy 1 |
|
Distal amyotrophy, Tip-toe gait, Muscular dystrophy, Lower limb muscle weakness, Deposits immunor... |
OMIM:254130 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, Apnea |
OMIM:615228 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentrati... |
ORPHA:353 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Rhabdomyolysis, Di... |
OMIM:618120 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Waddling gait, Ragged-red muscle fibers, Lower limb amyotrophy, Babinski sign, Upper limb amyotro... |
OMIM:616924 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Cataract, Stage 5 chronic kidney disease |
OMIM:615995 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... |
OMIM:612736 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Dyspnea, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetri... |
OMIM:608758 |
Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... |
OMIM:616852 |
Myopathy, Vacuolar, With Casq1 Aggregates |
|
Muscle fiber calsequestrin 1-containing inclusion bodies |
OMIM:616231 |
Developmental And Epileptic Encephalopathy 61 |
|
Optic atrophy, Apnea, Cerebral atrophy |
OMIM:617933 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Nonproductive cough, Xerostomia, Hypoalbuminemia, ... |
ORPHA:85443 |
Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Failure to thrive, Elbow contracture, Centrally nuclea... |
OMIM:620310 |
Adrenoleukodystrophy |
|
Incoordination, Urinary incontinence, Bowel incontinence, Paraparesis, Spastic paraplegia, Slurre... |
OMIM:300100 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Dyspnea, Respiratory insufficiency, Cardiomyopathy, Global systolic dysfunction, Limb muscle weak... |
OMIM:606842 |
Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... |
OMIM:617912 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ... |
OMIM:619747 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Dystonia,... |
OMIM:167320 |
Cap Myopathy |
|
Reduced systolic function, Facial palsy, Central hypoventilation, Abnormal muscle fiber morpholog... |
ORPHA:171881 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Abnormal autonomic nervous sys... |
ORPHA:85447 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Neonatal respiratory distress, Multiple joint contractures, Hypoventilat... |
ORPHA:70 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, Decreased muscle mass, Flexion contracture, Acute infantile spinal muscular... |
OMIM:271225 |
Cln3 Disease |
|
Cerebellar atrophy, Optic atrophy, T-wave inversion, Generalized cerebral atrophy/hypoplasia, Bra... |
ORPHA:228346 |
Alexander Disease Type I |
|
Cerebellar atrophy, Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Palatal tremor, Failur... |
ORPHA:363717 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Cerebellar atrophy, Apnea, Ataxia, Optic atrophy, Respiratory insufficiency, Brain atrophy, Dysto... |
OMIM:618226 |
Gitelman Syndrome |
|
Prolonged QT interval, Respiratory distress, Pericardial effusion, Raynaud phenomenon, Hypomagnes... |
ORPHA:358 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Eleva... |
ORPHA:308552 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... |
ORPHA:45453 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational a... |
ORPHA:45452 |
Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S... |
OMIM:606777 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne... |
ORPHA:411703 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Myopathy, Highly elevated creatine kinase, Increased variability in muscle fiber diameter, Centra... |
OMIM:618992 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Sinusitis, Facial palsy, Pneumonia, Respiratory tract infection, Abnormal sp... |
ORPHA:68 |
Spastic Paraparesis-Deafness Syndrome |
|
Spastic paraparesis, Hemiplegia/hemiparesis, Ataxia, Impaired pain sensation |
ORPHA:2815 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated creatine kinase after exercise, Sudden cardiac death, Elevated circulating acylcarnitine... |
ORPHA:99901 |
Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... |
OMIM:302060 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Pontocerebellar Hypoplasia, Type 6 |
|
Cerebellar atrophy, Apnea, Elbow contracture, Cerebral atrophy, Brain atrophy, Atrophy/Degenerati... |
OMIM:611523 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa... |
ORPHA:31826 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Waddling gait, Proximal muscle weakness in lower limbs, Myopathy, Gait disturbance, Increased var... |
ORPHA:1878 |
Charcot-Marie-Tooth Disease Type 4D |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Upper limb amyotrophy, Di... |
ORPHA:99950 |
Myopathy, Distal, 3 |
|
Clumsiness, Distal amyotrophy, Steppage gait, Muscular dystrophy, EMG: myopathic abnormalities, J... |
OMIM:610099 |
Christianson Syndrome |
|
Cerebellar atrophy, Decreased muscle mass, Cachexia, Gait ataxia, Truncal ataxia, Arthrogryposis ... |
ORPHA:85278 |
Laryngotracheal Angioma |
|
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Cardiomyopathy, Dilated, 1Q |
|
Dilated cardiomyopathy |
OMIM:609915 |
Cardiomyopathy, Dilated, 1H |
|
Dilated cardiomyopathy |
OMIM:604288 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis, Limb muscle weakness |
OMIM:619141 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... |
ORPHA:99105 |
Brugada Syndrome 2 |
|
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... |
OMIM:611777 |
Neurotrophic Keratopathy |
|
Abnormal fifth cranial nerve morphology, Allodynia, Hyperesthesia |
ORPHA:137596 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyopathy, Ventric... |
OMIM:600649 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cardiac shunt, Cardiomegaly, Tachypnea, Dextrotransposition of the great arteries, Abnormality of... |
ORPHA:860 |
Myopathy, Centronuclear, 2 |
|
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Respiratory insuffici... |
OMIM:255200 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Elevated circulati... |
OMIM:613327 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
Amyotrophic Lateral Sclerosis 18 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:614808 |
Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Severe Neonatal-Onset Encephalopathy With Microcephaly |
|
Cerebral atrophy, Apnea, Respiratory insufficiency |
ORPHA:209370 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Choreoathetosis, Skeletal muscle atrophy, Decreased nerve conduction velocity |
OMIM:614932 |
Benign Schwannoma |
|
Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth cranial nerve, Sclera... |
ORPHA:252164 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Polyhydramnios, Centrally nucleated skeletal muscle fibe... |
ORPHA:169189 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Babinski sign, Optic atrophy, Progressive cerebellar ataxia, Progressive gait ataxia, Lower limb ... |
ORPHA:254343 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Limb... |
OMIM:609308 |
Distal Myopathy With Anterior Tibial Onset |
|
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... |
ORPHA:178400 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Respiratory distress, Pneumonia, Elevated circulating C-reactive protein concentration, No... |
ORPHA:36238 |
Amoebiasis Due To Entamoeba Histolytica |
|
Lung abscess, Abnormal pericardium morphology, Dyspnea, Congestive heart failure, Weight loss, Pl... |
ORPHA:67 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Dyspnea, Pleural effusion |
ORPHA:48686 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Pseudo-Torch Syndrome 2 |
|
Acute respiratory distress syndrome, Cerebral hemorrhage, Secundum atrial septal defect, Patent d... |
OMIM:617397 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, R... |
OMIM:619518 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Waddling gait, Facial palsy, Flexion contracture, Shoulder girdle muscle weakness, Muscular dystr... |
OMIM:603511 |
Krabbe Disease |
|
Diffuse cerebral atrophy, Decreased nerve conduction velocity, Optic atrophy, EEG abnormality, Ne... |
OMIM:245200 |
Primary Angiitis Of The Central Nervous System |
|
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis, Const... |
ORPHA:140989 |
Merrf |
|
Myopathy, Ragged-red muscle fibers, Ataxia |
ORPHA:551 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Skeletal muscle atrophy, Dystonia, Ataxia, Inability to walk, Tetraparesis, Tongue fasciculations... |
OMIM:618276 |
Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Prolonged QRS complex, Polyhydramnios, Supraventricular tachycardia, Foo... |
ORPHA:273 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia |
OMIM:606703 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Muscular dystrophy, Loss of ambulation, Increased variability in muscle ... |
OMIM:253601 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Constrictive pericarditis, Pleural effusion |
OMIM:602248 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Cerebellar atrophy, Onion bulb formation, Ataxia, Dysmetria, Dysdiadochokinesis, ... |
OMIM:614487 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy |
OMIM:616209 |
Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Increased variability in muscle fibe... |
OMIM:619473 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Renal tubular dysfunction, Cataract |
ORPHA:1380 |
Dk1-Cdg |
|
Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac... |
ORPHA:91131 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Peripheral axonal neuropathy,... |
OMIM:218000 |
Congenital Myopathy 23 |
|
Waddling gait, Skeletal muscle atrophy, Scapular winging, Flexion contracture, Facial diplegia, T... |
OMIM:609285 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Facial palsy, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titu... |
OMIM:607483 |
Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Skeletal muscle atrophy, Brachial plexus neuropathy, Axonal degen... |
OMIM:162100 |
Spinocerebellar Ataxia 40 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Pontocerebellar atrophy... |
OMIM:616053 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Bowel incontinence, Truncal titubation, Axonal degeneration, Impaired vibration sensation... |
ORPHA:88628 |
Congenital Enterovirus Infection |
|
Respiratory distress, Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis, Hydrops f... |
ORPHA:292 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Cerebellar atrophy, Apnea, Ataxia, Chorea, Optic atrophy, Frontotemporal ce... |
ORPHA:79097 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Apnea, Optic atrophy, Gliosis, Bradycardia, Abnormal autonomic nervous system physiology, Joint c... |
OMIM:614498 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Tricuspid regurgitation, Crackles, Dyspnea, Asthma, Wheezing, Atelectasis, Bronchiectasis, Recurr... |
OMIM:620233 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... |
OMIM:613255 |
Autosomal Recessive Spastic Paraplegia Type 21 |
|
Frontotemporal cerebral atrophy, Lower limb muscle weakness, Abnormality of peripheral nerve cond... |
ORPHA:101001 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Skeletal muscle atrophy, Apnea, Opisthotonus |
OMIM:616896 |
Seizures, Benign Familial Infantile, 3 |
|
Apnea |
OMIM:607745 |
Pontocerebellar Hypoplasia, Type 16 |
|
Skeletal muscle atrophy, Apnea, Optic atrophy, Cerebral cortical atrophy, Limb hypertonia |
OMIM:619527 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... |
OMIM:619902 |
Bardet-Biedl Syndrome 2 |
|
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve, Obesity |
OMIM:615981 |
Isolated Atp Synthase Deficiency |
|
Cerebellar atrophy, Respiratory distress, Dilated cardiomyopathy, Optic atrophy, Hyperammonemia, ... |
ORPHA:254913 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc... |
OMIM:619477 |
Oculopharyngodistal Myopathy 2 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... |
OMIM:618940 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Flexion contracture, Myopathy, Cachexia |
ORPHA:157973 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomegaly, Cardiomyopathy, Abnormal autonomic nervous system physiology, Orthostatic hypotensi... |
OMIM:105210 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Facial palsy, Elevated circulating creatine kinase c... |
OMIM:258450 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Dy... |
OMIM:615745 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Progressive truncal ataxia, Spastic ataxia, Decreased motor nerve conduction velocity, Ataxia, Pe... |
OMIM:270550 |
Hypocomplementemic Urticarial Vasculitis |
|
Abnormal heart valve morphology, Pericardial effusion, Dyspnea, Angioedema, Emphysema, Restrictiv... |
ORPHA:36412 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... |
OMIM:619371 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati... |
ORPHA:99103 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in upper limbs, Increased mitochondrial number, Ragged-red muscle fibers... |
ORPHA:457050 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Neonatal respiratory distress, Spinal muscular atrophy, Secundum atrial septal defect, Congestive... |
OMIM:616866 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
2Q24 Microdeletion Syndrome |
|
Central apnea, Failure to thrive, Small for gestational age, Camptodactyly of finger |
ORPHA:1617 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Lower limb spasticity, Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intr... |
OMIM:620285 |
Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... |
OMIM:611556 |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Failure to thrive, Apnea, Central hypoventilation, Respiratory insufficiency |
OMIM:300673 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Absent brainstem auditory responses, Pulmonary edema, Apne... |
ORPHA:79330 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Optic disc pallor, Tibia... |
ORPHA:101076 |
Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Respiratory distress, Neonatal respiratory distress, Small for gestational a... |
OMIM:260400 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Hip contracture, Ankle flexion contracture, Decreased nerve conduction velocity, Choreoathetosis,... |
ORPHA:319514 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Ataxia, Cachexia |
ORPHA:1933 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Elevated circulating cre... |
ORPHA:268 |
Spinocerebellar Ataxia 1 |
|
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Optic disc pallor, Skele... |
OMIM:164400 |
Truncus Arteriosus |
|
Anomalous origin of one pulmonary artery from ascending aorta, Cardiomegaly, Tachypnea, Abnormal ... |
ORPHA:3384 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Neonatal respiratory distress, Spinal muscular atrophy, Polyhydramnios, ... |
OMIM:616867 |
Huntington Disease-Like 2 |
|
Caudate atrophy, Parkinsonism, Involuntary movements, Chorea, Weight loss, Cerebral cortical atrophy |
ORPHA:98934 |
Glycogen Storage Disease Xv |
|
Scapular winging, ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Par... |
OMIM:613507 |
Sarcoidosis, Susceptibility To, 2 |
|
Facial palsy, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, ... |
OMIM:612387 |
Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Ataxia, Cachexia, Impaired pain sensation, Cerebral cortical atrophy |
ORPHA:2047 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, H... |
OMIM:205100 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology, Spinal muscular atrophy, Respiratory insufficiency due to... |
OMIM:611067 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Respiratory failure, Abnormal blood gas level, ... |
ORPHA:70578 |
Seizures, Benign Familial Infantile, 1 |
|
Apnea |
OMIM:601764 |
Spastic Paraplegia 48, Autosomal Recessive |
|
Lower limb spasticity, Ataxia, Urinary incontinence, Parkinsonism, Spastic paraplegia, Dysmetria,... |
OMIM:613647 |
Multiminicore Myopathy |
|
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Respiratory insufficie... |
ORPHA:598 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Papilledema, Ventricular septal defect, Elevated circulating creati... |
OMIM:618775 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Ataxia, Paraparesis, Oromotor apraxia, Clumsiness, Bradykinesia, Pontocere... |
OMIM:617854 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Ataxia, Babinski sign, Spastic diplegia, Myoclonus, Increased intramyocellular lipid droplets, Dy... |
OMIM:619065 |
Inclusion Body Myositis |
|
Inflammatory myopathy, Rimmed vacuoles |
OMIM:147421 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Polyhydramnios, Flexion contracture, Facial diplegia, Card... |
ORPHA:171433 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Respiratory insufficiency d... |
OMIM:254090 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Telangiectasia of the skin, Abnormal pericardium morphology, Myocard... |
ORPHA:679 |
Focal Segmental Glomerulosclerosis 1 |
|
Edema, Hyperlipidemia, Hypertension, Hypoalbuminemia, Pleural effusion, Ascites |
OMIM:603278 |
Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Abnormal respiratory system physiology, Centrally nu... |
ORPHA:324581 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Decreased muscle mass, Peripheral axonal neuropathy, C... |
ORPHA:298 |
Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Chorea, Impaired proprioception, Optic atrophy, Dysm... |
ORPHA:98755 |
Atrial Septal Defect 6 |
|
Atrial septal defect, Atrial fibrillation, Bradycardia |
OMIM:613087 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Lower limb muscle weakness, Dysmetria, ... |
ORPHA:313772 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Optic disc pallor, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardio... |
OMIM:619167 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Intermittent... |
ORPHA:324604 |
Spinocerebellar Ataxia 28 |
|
Parkinsonism, Babinski sign, Ragged-red muscle fibers, Limb ataxia, Gait ataxia, Lower limb hyper... |
OMIM:610246 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect, Respiratory insufficiency due to muscle weakness, Cryptorchidism, Myop... |
OMIM:616816 |
Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:617839 |
Mcleod Syndrome |
|
Atrial fibrillation, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Dilated ... |
OMIM:300842 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Apnea, Central hypoventilation, Ataxia, Optic atrophy, Dysmetria, Respiratory failure |
OMIM:618233 |
Glutamine Deficiency, Congenital |
|
Hypoglutaminemia, Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Flexion... |
OMIM:610015 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Respiratory distress, Corpus callosum atrophy, Cereb... |
OMIM:619272 |
Lymphatic Malformation 7 |
|
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial ... |
OMIM:617300 |
Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy |
OMIM:208750 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Reduced forced vital capacity, Respiratory insufficiency due to muscle... |
OMIM:619461 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio... |
OMIM:618052 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Skeletal muscle atrophy, Cerebral hemorrhage, Abnormality of skeletal muscl... |
OMIM:620278 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Ataxia, Babinski sign, Ragged-red muscle fibers, Myopathy, Difficulty walking, Spasticity |
OMIM:618242 |
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies |
|
Sudden cardiac death, Dyspnea, Left ventricular outflow tract obstruction, Systolic anterior moti... |
OMIM:620236 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Decreased nerve conduction velocity, Peripheral demyelination, Gait ataxia |
OMIM:249900 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Facial palsy, Flexion contracture, Nocturnal hypoventilation, Increased variability in muscle fib... |
OMIM:616470 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy... |
ORPHA:71277 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral atrophy |
OMIM:105500 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... |
OMIM:617047 |
Marinesco-Sjogren Syndrome |
|
Cerebellar atrophy, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, ... |
OMIM:248800 |
Necrotizing Enterocolitis |
|
Shock, Hyponatremia, Apnea, Small for gestational age, Edema, Abnormal heart morphology, Bradycar... |
ORPHA:391673 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Peripheral axonal neuropathy, Ataxia, Parkinsonism, Overweight, Atrophy ... |
ORPHA:2822 |
Myasthenic Syndrome, Congenital, 24, Presynaptic |
|
Apnea, Respiratory insufficiency, Knee flexion contracture, Distal arthrogryposis, Camptodactyly |
OMIM:618198 |
Leukodystrophy, Hypomyelinating, 4 |
|
Choreoathetosis, Flexion contracture, Apnea, Head titubation |
OMIM:612233 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... |
OMIM:612422 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Apnea, Brain atrophy, Respiratory insufficiency |
OMIM:617290 |
Nemaline Myopathy 5C, Autosomal Dominant |
|
Waddling gait, Skeletal muscle atrophy, Scapular winging, Quadriceps muscle weakness, Achilles te... |
OMIM:620389 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Steppage gait, Type 1 mus... |
OMIM:608340 |
Kearns-Sayre Syndrome |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Third degree atrioventricular block |
ORPHA:480 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Skeletal muscle atrophy, Flexion contracture of finger, Ataxia, Impaired vibration sensation in t... |
OMIM:609033 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Decreased motor nerve conduction velocity, Impaired pain sensation, Dysesthesia, Impaired vibrati... |
OMIM:613640 |
D-2-Hydroxyglutaric Aciduria 2 |
|
Cardiomyopathy, D-2-hydroxyglutaric acidemia |
OMIM:613657 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund... |
OMIM:613838 |
Oculopharyngeal Muscular Dystrophy |
|
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology |
ORPHA:270 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Phosphoserine Aminotransferase Deficiency |
|
Apnea |
OMIM:610992 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Cerebral atrophy,... |
OMIM:256600 |
Isaacs Syndrome |
|
Calf muscle hypertrophy, Weight loss, Fasciculations, Distal sensory impairment |
ORPHA:84142 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Dysmetria, Dysdiadochokinesis, F... |
OMIM:618356 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Dilated cardiomyopathy, Tachypnea, Optic atrophy, Respiratory insufficiency... |
OMIM:614299 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Elevated circulating creatine kinase concentration, Edema, Quadriceps muscle weakness, Ragged-red... |
ORPHA:254892 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Cryptorchidism, Increased nuchal translucency, Patent... |
OMIM:616564 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Impaired vibratory sensation, Decreased nerve conduction velocity, Dysmetria, Dysdiadochokinesis,... |
OMIM:238970 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... |
OMIM:620138 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Elevated circulating creatine kinase concentration, Calf muscle hypertrophy, Cardiomyopathy, Myop... |
ORPHA:119 |
Rett Syndrome |
|
Skeletal muscle atrophy, Dystonia, Apnea, Intermittent hyperventilation, Cachexia, Gait ataxia, T... |
OMIM:312750 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability... |
OMIM:613204 |
Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricular conduction, Knee... |
ORPHA:3208 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Dilated cardiomyopathy, Reduced systolic function, Hypoalbuminemia, Failure to thrive in infancy |
OMIM:618805 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Tachypnea, Reduced left ... |
OMIM:616501 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Amyotrophic lateral sclerosis, Dystonia |
OMIM:300857 |
Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Elevated circulating glutaric acid concentration, Bilateral cryptorchidism... |
ORPHA:66634 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Type 2 muscle fiber predo... |
OMIM:619028 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Ataxia, Apnea, Brain atrophy |
OMIM:618225 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... |
OMIM:115210 |
Myopathy, Myofibrillar, 6 |
|
Scapular winging, Facial palsy, Restrictive cardiomyopathy, Elevated circulating creatine kinase ... |
OMIM:612954 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Increased serum pyruvate, Polyhydramnios, Congestive heart failure, Ragged-red muscle fibers, Res... |
OMIM:616794 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Apnea, Abnormal hemidiaphragm morphology, Asthma, Tachypnea, Pneum... |
ORPHA:2257 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Atrophy of the spinal co... |
OMIM:256840 |
Congenital Myopathy 15 |
|
Tricuspid regurgitation, Polyhydramnios, Fatty replacement of skeletal muscle, Reduced forced vit... |
OMIM:620161 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Peroxisome Biogenesis Disorder 8B |
|
Clonus, Dysmetria, Gait ataxia, Hypertonia, Ataxia, Limb tremor, Brain atrophy, Spastic parapares... |
OMIM:614877 |
Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Cardiomyopathy, Myofibri... |
OMIM:609452 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Abnormality of the musculature of the lower limbs, Decreased nerve conduction v... |
ORPHA:329478 |
Bethlem Myopathy 2 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Flexion contracture, Myopat... |
OMIM:616471 |
Scedosporiosis |
|
Pericarditis, Sinusitis, Bronchial breath sound, Pneumonia, Bronchitis, Abnormal respiratory syst... |
ORPHA:449280 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Rigidity, Spastic tetraplegia, Bradykinesia, Distal amyotrophy, Neurodegeneration, Spastic parapa... |
OMIM:615643 |
Benign Familial Neonatal-Infantile Seizures |
|
Episodic ataxia, Apnea |
ORPHA:140927 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Tremor, Cerebral atrophy, Apneic episodes precipitated by illness, fat... |
OMIM:312170 |
Capillary Malformation-Arteriovenous Malformation |
|
Neurogenic bladder, Epistaxis, Nonimmune hydrops fetalis, Abnormality of the musculature of the l... |
ORPHA:137667 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Fatigue, Skeletal muscle atrophy, Ataxia, Cachexia, Myopathy, Exercise-induced myalgia, Distal ar... |
ORPHA:42 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Skeletal muscle atrophy, Abnormal atrioventricular conduction, Respiratory insufficiency due to m... |
ORPHA:329336 |
Myofibrillar Myopathy 10 |
|
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Elbow flexion cont... |
OMIM:619040 |
Poliomyelitis |
|
Fatigue, Skeletal muscle atrophy, Exercise intolerance, Hypoplasia of the musculature, Abnormal m... |
ORPHA:2912 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Weight loss, Failure to thrive, Cachexia, Gait ataxia |
OMIM:612075 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Diffuse cerebral atrophy, Motor neuron atrophy, Frontotemporal cerebral atrophy, Spinocerebellar ... |
ORPHA:412066 |
Oculopharyngodistal Myopathy 4 |
|
Autophagic vacuoles, Postural tremor, Fatty replacement of skeletal muscle, Tremor, Increased var... |
OMIM:619790 |
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Cerebral atrophy, Sensory ataxia, ... |
OMIM:616192 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Centrally ... |
OMIM:615422 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Decreased nerve conduction velocity, Truncal obesity, Camptodactyly of finger |
ORPHA:2928 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Hypoventilation, Skeletal muscle atrophy, Apnea, Facial palsy, Stridor, Arthrogryposis multiplex ... |
OMIM:617143 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Elevated circulating acylcarnitine concentration, Optic atrophy, Cardiomyop... |
ORPHA:26792 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Impaired vibratory sensation, Distal lower limb amyotrophy, Thenar muscle atrophy, Babinski sign,... |
OMIM:500013 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers,... |
OMIM:613561 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Neonatal respiratory distress, Scarring alopecia of scalp, Motheaten muscle fibers, Nail dystroph... |
OMIM:226670 |
Idiopathic Congenital Hypothyroidism |
|
Facial edema, Macroglossia, Bradycardia, Neonatal hyperbilirubinemia |
ORPHA:95717 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
Hjv Or Hamp-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Dilated cardiomyop... |
ORPHA:79230 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Hypoglycosylation of alpha-dystroglycan, Scapular winging, Macroglossia, Calf muscle hypertrophy,... |
OMIM:616052 |
Spinocerebellar Ataxia 10 |
|
Cerebellar atrophy, Decreased nerve conduction velocity, Limb ataxia, Distal sensory impairment, ... |
OMIM:603516 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Abnormality of the seventh cranial nerve, Distal sensory impairment,... |
ORPHA:90117 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Skeletal muscle atrophy, Involuntary movements, Ragged-red muscle fibers, Tetraplegia, Tongue fas... |
OMIM:300816 |
Myasthenic Syndrome, Congenital, 16 |
|
Apnea |
OMIM:614198 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Scapular winging, Myositis, Elevated circulating creatine kinase concent... |
ORPHA:206569 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Myopathy, Type 1 musc... |
OMIM:605355 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... |
OMIM:602088 |
Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ... |
ORPHA:35689 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Enlarged kidney |
OMIM:615285 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Apnea, Limb joint contracture, Bradycardia |
OMIM:619814 |
Lethal Congenital Contracture Syndrome 7 |
|
Skeletal muscle atrophy, Paralysis, Knee flexion contracture, Facial diplegia, Distal arthrogryposis |
OMIM:616286 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Dyspnea, Achilles te... |
OMIM:615418 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn... |
ORPHA:75840 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Spastic ataxia, Cerebellar atrophy, Peripheral axonal neuropathy, Spinal muscular atrophy, Spasti... |
ORPHA:496756 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Scapular winging, Facial palsy, Elevated circulating creatine kinase concentr... |
ORPHA:254886 |
Joubert Syndrome 23 |
|
Tachypnea, Apnea |
OMIM:616490 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left... |
OMIM:540000 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Respiratory insufficiency due to... |
OMIM:611890 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Pleural effusion, Pericarditis, Joint swelling, Elevated circulating C-reactive protein concentra... |
ORPHA:85414 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Dyspnea, Concentric hypertrophic cardiomyopathy, Biventricu... |
OMIM:613243 |
Joubert Syndrome 33 |
|
Apnea, Ataxia |
OMIM:617767 |
Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal hear... |
ORPHA:398124 |
Pericardial And Diaphragmatic Defect |
|
Neonatal respiratory distress, Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent duc... |
ORPHA:2847 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Hypoglycosylation of alpha-dystroglycan, Ankle flexion contracture, Limb-girdle muscle weakness, ... |
OMIM:613818 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Neonatal respiratory distress, Apnea, Elevated circulating creatine kinase concentration, Cardiom... |
OMIM:608836 |
Adrenomyeloneuropathy |
|
Back pain, Fatigue, Peripheral axonal degeneration, Urinary incontinence, Bowel incontinence, Atr... |
ORPHA:139399 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:619688 |
Central Core Disease |
|
Neonatal respiratory distress, Multiple joint contractures, Elevated circulating creatine kinase ... |
ORPHA:597 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Tularemia |
|
Respiratory distress, Tachycardia, Pneumonia, Cough, Pleural effusion |
ORPHA:3392 |
Spinal Muscular Atrophy, Segmental |
|
Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy |
OMIM:183020 |
Pediatric Systemic Lupus Erythematosus |
|
Myositis, Edema, Pericardial effusion, Dyspnea, Raynaud phenomenon, Pleural effusion, Ascites |
ORPHA:93552 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Small for gestational age, Apnea, Central hypoventilation, Cerebral atrophy, Dystonia, Neonatal d... |
OMIM:620167 |
Pulmonary Arteriovenous Malformation |
|
Transient ischemic attack, Epistaxis, Myocardial infarction, Cough, Dyspnea, Heart murmur, Telang... |
ORPHA:2038 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Ataxia, Rhabdomyolysis, Ragged-red muscle fibers, Choreoathetosis, Dystonia, Weakness of facial m... |
OMIM:618416 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Small for gestationa... |
ORPHA:555874 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Skeletal muscle atrophy, Transient ischemic attack, Supraventricular arrhyt... |
ORPHA:3260 |
Congenital Myopathy 11 |
|
Weakness of facial musculature, Neonatal respiratory distress, Apneic episodes in infancy |
OMIM:619967 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Torticollis |
OMIM:613724 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Apnea, Small for gestational age, Optic atrophy, Bronchiectasis, Respiratory insufficiency, Aspir... |
OMIM:618253 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... |
ORPHA:85445 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Pain insensitivity, Impaired temperature sensation, Impaired proprioception, Painless fractures d... |
OMIM:243000 |
Spinocerebellar Ataxia Type 3 |
|
Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive c... |
ORPHA:98757 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Ataxia, Acute rhabdomyolysis, Camptodactyly of finger, Dysmetria, Paresthesia, Motor axonal neuro... |
ORPHA:48431 |
Spinocerebellar Ataxia Type 40 |
|
Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atrophy, Spastic paraparesis, Intenti... |
ORPHA:423275 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Distal sensory impai... |
OMIM:601152 |
Congenital Myopathy 6 With Ophthalmoplegia |
|
Waddling gait, Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture,... |
OMIM:605637 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
Aminoacylase 1 Deficiency |
|
Cerebellar atrophy, Bradycardia, Cerebral cortical atrophy, Cerebral atrophy |
OMIM:609924 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
Diencephalic Syndrome |
|
Optic atrophy, Cachexia, Decreased body weight |
ORPHA:1672 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Joubert Syndrome 30 |
|
Cerebellar atrophy, Tachypnea, Apnea |
OMIM:617622 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Edema, Dyspnea, Atelectasis, Tachypnea, Pulm... |
OMIM:267450 |
Cardiac Lipidosis, Familial |
|
Cardiomyopathy, Congestive heart failure |
OMIM:212080 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Distal lower limb amyotrophy, Postural tremor, Hand muscle weakness, Quadriceps muscle weakness, ... |
ORPHA:99947 |
Fatal Familial Insomnia |
|
Apnea, Ataxia, Weight loss, Abnormal autonomic nervous system physiology, Neuronal loss in centra... |
OMIM:600072 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Edema, Pulmonary edema |
OMIM:178400 |
Duchenne Muscular Dystrophy |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexion contracture,... |
ORPHA:98896 |
Congenital Disorder Of Glycosylation, Type It |
|
Tachycardia, Ventricular septal defect, Elevated circulating creatine kinase concentration, Sudde... |
OMIM:614921 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexion contracture,... |
OMIM:253800 |
Ogden Syndrome |
|
Bicuspid aortic valve, Apnea, Cardiomegaly, Secundum atrial septal defect, Lymphedema, Ventricula... |
OMIM:300855 |
Leukodystrophy, Hypomyelinating, 24 |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Flexion contracture, Cer... |
OMIM:619851 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Bundle branch block, Neonatal respiratory distress, Facial hypotonia, First degree atrioventricul... |
ORPHA:589821 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Failure to thrive, Bradycardia, Joint contracture of the 5th finger, Atrioventricular block |
OMIM:614407 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, Sudden cardi... |
OMIM:201475 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Facial hypotonia, Apnea, Ataxia, Tremor, Flexion contracture, Obesity, Choreoathe... |
OMIM:300055 |
Malonyl-Coa Decarboxylase Deficiency |
|
Neonatal respiratory distress, Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy |
OMIM:248360 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Edema, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, Stridor, Tricep... |
OMIM:619574 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia, Rhinorrhea |
OMIM:167400 |
Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Reduced forced vital capacity, Fatty replacement of skeletal muscle, Achilles ... |
OMIM:620249 |
Neutral Lipid Storage Disease With Myopathy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased muscle lipid ... |
OMIM:610717 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Facial palsy, Elevated circulating creatine kinase concentration, Flexion contracture, Abnormal l... |
OMIM:613155 |
Wieacker-Wolff Syndrome |
|
Neonatal respiratory distress, Dystonia, Apnea, Facial palsy, Cerebral atrophy, Congenital foot c... |
OMIM:314580 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Failure to thrive in infancy, Cachexia, Bowel incontinence, Optic atrophy, Choreoathetosi... |
ORPHA:702 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Low-output congestive heart failure, Myopathy, Hypertrophic cardiomyopathy,... |
ORPHA:91130 |
Myasthenic Syndrome, Congenital, 12 |
|
Waddling gait, Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy |
OMIM:610542 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Dilated cardiomyopathy, Cerebral atrophy, Neurodegeneration, Gliosis, Left ventricul... |
OMIM:618321 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Atrophy/Degeneration involving the spinal cord, Dilated cardiomyopathy, Ragged-red muscle fibers,... |
ORPHA:70595 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy |
ORPHA:2229 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Dyspnea, Ventricular t... |
OMIM:612098 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, Neonatal death, Pu... |
OMIM:265120 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Cerebellar atrophy, Frontal upsweep of hair, Apnea, Cerebral atrophy |
OMIM:619797 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Ataxia, Paraparesis, Optic atrophy, Choreoathetosis, Tetraparesis |
ORPHA:27 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Ax... |
OMIM:619026 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Cardiac conduction abnormality, Dyspnea, Dilated cardiomyopathy, Ragged-red muscle fibers,... |
ORPHA:255210 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Immunodeficiency 91 And Hyperinflammation |
|
Elevated circulating C-reactive protein concentration, Edema, Recurrent pneumonia, Abnormal pulmo... |
OMIM:619644 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Azoospermia, Ischemic stroke, Decrease... |
ORPHA:280679 |
Lipoyltransferase 1 Deficiency |
|
Cerebellar atrophy, Hyperglutaminemia, Hyperprolinemia, Bradycardia, Pulmonary arterial hypertens... |
OMIM:616299 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... |
OMIM:616313 |
Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased sensory nerve c... |
OMIM:603472 |
Multifocal Motor Neuropathy |
|
Limb muscle weakness, Weakness of long finger extensor muscles, Motor conduction block |
ORPHA:641 |
X-Linked Adrenoleukodystrophy |
|
Somatic sensory dysfunction, Incoordination, Paralysis, Paraparesis, Progressive spastic parapare... |
ORPHA:43 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Takayasu Arteritis |
|
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vasculit... |
ORPHA:3287 |
Q Fever |
|
Respiratory distress, Pericarditis, Abnormal heart valve morphology, Pneumonia, Pericardial effus... |
ORPHA:781 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Intracranial hemorrhage, Cough, Internal hemorrhage, Elevated circulating c... |
ORPHA:340 |
Japanese Encephalitis |
|
Hyperintensity of MRI T2 signal of the spinal cord, Skeletal muscle atrophy, Respiratory distress... |
ORPHA:79139 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Failure to thrive in in... |
ORPHA:264675 |
Polyarteritis Nodosa |
|
Pericarditis, Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Abnormal... |
ORPHA:767 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Hip contracture, Facial hypotonia, Failure to thrive in infancy, Cachexia, Cerebral atrophy, Hype... |
OMIM:616801 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... |
OMIM:609040 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Skeletal muscle atrophy, Onion bulb formation, Lower limb spasticity, Optic neuropathy, Tibialis ... |
ORPHA:320375 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... |
ORPHA:99104 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Apneic episodes in infancy, Generalized amyotrophy |
OMIM:610006 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Aspergillosis |
|
Sinusitis, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obstruction, Abnormality on pulmonary fu... |
ORPHA:1163 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Apnea, Cardiorespiratory arrest, Stridor, Bronchospasm, Abnormal pa... |
OMIM:608800 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Edema, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte h... |
OMIM:605676 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Neonatal respiratory distress, Apnea, Respiratory failure |
ORPHA:168486 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Flexion contracture, Babinski sign, Spastic paraplegia... |
OMIM:275900 |
8p23.1 deletion syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Abnormal heart morphology, Atrial septal defect,... |
DECIPHER:39 |
Pontocerebellar Hypoplasia Type 2 |
|
Paroxysmal dystonia, Apnea, Viral infection-induced rhabdomyolysis, Choreoathetosis, Lower limb h... |
ORPHA:2524 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Abnormal lung lobation, Atrial sep... |
OMIM:265380 |
Congenital Disorder Of Glycosylation, Type Im |
|
Increased circulating free fatty acid level, Dilated cardiomyopathy, Bradycardia, Aspiration, Fai... |
OMIM:610768 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hyp... |
ORPHA:73224 |
Charcot-Marie-Tooth Disease Type 1E |
|
Hand muscle atrophy, Distal lower limb amyotrophy, Peroneal muscle weakness, Impaired temperature... |
ORPHA:90658 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Nonimmune hydrops fetalis, Flexion contracture, Cerebral atrophy, Cardiomyopathy, Joint contracture |
OMIM:608540 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Waddling gait, Scapular winging, Facial palsy, Generalized weakness of limb muscles, Limb-girdle ... |
ORPHA:353327 |
Oculopharyngodistal Myopathy |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Vocal cord paresis, Abnorm... |
ORPHA:98897 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Limb joint contracture, Cachexia, ... |
OMIM:618186 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Diffuse cerebral atrophy, Bradycardia |
ORPHA:2898 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Decreased nerve conduction velocity, Fatty replacement of skeletal muscle, Myopathy, Increased va... |
ORPHA:397744 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Cardiomegaly, Congestiv... |
OMIM:212140 |
Mitochondrial Myopathy, Infantile, Transient |
|
Facial palsy, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Increas... |
OMIM:500009 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
Pulmonary Blastoma |
|
Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Weight loss, Cough |
ORPHA:64741 |
Myotonia, Potassium-Aggravated |
|
Stridor, Skeletal muscle atrophy, Apneic episodes in infancy, Skeletal muscle hypertrophy |
OMIM:608390 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Elevated circulating crea... |
OMIM:620300 |
Erdheim-Chester Disease |
|
Abnormal pericardium morphology, Dyspnea, Congestive heart failure, Abnormal pulmonary interstiti... |
ORPHA:35687 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary embolism, Edema, ... |
ORPHA:70591 |
Leptospirosis |
|
Respiratory distress, Papilledema, Pericarditis, First degree atrioventricular block, Rhabdomyoly... |
ORPHA:509 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... |
OMIM:614473 |
Immunodeficiency 87 And Autoimmunity |
|
Hypertriglyceridemia, Small for gestational age, Elevated circulating C-reactive protein concentr... |
OMIM:619573 |
Benign Familial Neonatal Epilepsy |
|
Apnea |
ORPHA:1949 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... |
ORPHA:3093 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Restric... |
OMIM:300770 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Telangiectasia of the skin, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Finger ... |
OMIM:212112 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Tachypnea, Respiratory failure, Cough, Failure to thrive |
OMIM:263000 |
Developmental And Epileptic Encephalopathy 90 |
|
Apneic episodes in infancy, Cerebral atrophy, Limb hypertonia |
OMIM:301058 |
Illum Syndrome |
|
Calcinosis, Arthrogryposis multiplex congenita, Apnea, Bradycardia |
OMIM:208155 |
Poems Syndrome |
|
Papilledema, Edema, Pericardial effusion, Respiratory insufficiency due to muscle weakness, Weigh... |
ORPHA:2905 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect, Small for gestational age, Nonimmune hydrops fetalis... |
OMIM:617021 |
Snakebite Envenomation |
|
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Edema, Angioedema, Rhabdomyolysis, I... |
ORPHA:449285 |
Pparg-Related Familial Partial Lipodystrophy |
|
Calf muscle pseudohypertrophy, Hypertriglyceridemia, Congestive heart failure, Abnormality of ske... |
ORPHA:79083 |
Leukodystrophy, Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Rigidity, Head titubation, Babin... |
OMIM:608804 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, F... |
OMIM:610921 |
Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome |
OMIM:607487 |
Melas |
|
Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Dilated cardiomyopathy, Ragged-re... |
ORPHA:550 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Unilateral cryptorchidism, Polyhydramnios, Centrally nucleated skeletal mus... |
OMIM:300219 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Broad-based gait, Ataxia, Clonus, Ragged-red muscle fibers, Abnormal pyr... |
OMIM:616479 |
Idiopathic Camptocormia |
|
Amyotrophic lateral sclerosis, Myositis, Fatty replacement of skeletal muscle, Abnormal muscle fi... |
ORPHA:1320 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy |
OMIM:609283 |
Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Elevated circulating creatine kinase concentration, Hyperlipidemia, Card... |
OMIM:232400 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Apnea, Type 1 muscle fiber predominance, Increased variability in muscle fiber diameter, Frontal ... |
OMIM:612949 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Crackles, Elevated circulating C-reactive protein concentration, Dyspnea, Nonproductive cough, Wh... |
ORPHA:2902 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature |
OMIM:617069 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... |
OMIM:619343 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Optic disc pallor, Congenital diaphragmatic hernia, Atrial septal defect... |
OMIM:300887 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertriglyceridemia, Congestive heart failure, Abnormality of skeletal muscle fiber size, Skelet... |
ORPHA:2348 |
Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system |
OMIM:600274 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Skeletal muscle atrophy, Tachycardia, Elevated circulating creatine kinase concentration, Glycoge... |
ORPHA:368 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Hypokalem... |
OMIM:620152 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Optic disc pallor, Apnea, Episodic tachypnea, Cerebral atrophy, Aspiration pn... |
ORPHA:79264 |
Familial Thyroid Dyshormonogenesis |
|
Facial edema, Macroglossia, Bradycardia, Abnormal circulating thyroglobulin level, Neonatal hyper... |
ORPHA:95716 |
Atypical Rett Syndrome |
|
Sudden episodic apnea, Episodic tachypnea, Impaired pain sensation, Tremor, Gait ataxia, Pill-rol... |
ORPHA:3095 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... |
OMIM:614676 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Increased nuchal translucency, ... |
ORPHA:453499 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Neonatal respiratory distress, Ventricular septal defect, Apnea, Flexion contracture... |
OMIM:614653 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Cardiomegaly, Flexion c... |
ORPHA:365 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Optic neuropathy, Dyspnea, Pate... |
OMIM:610505 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Myopathy, Decreased compound muscle action potential amplitude, Flexion contracture, Generalized ... |
OMIM:618323 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Bicuspid aortic valve, Mitral atresia, Small for gestational age, Tachypnea, Aortic valve atresia... |
OMIM:220111 |
Spinocerebellar Ataxia Type 26 |
|
Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa... |
ORPHA:101112 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Congestive heart fai... |
OMIM:615895 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Overweight, Dilated cardiomyopathy, Renovascular hyp... |
ORPHA:401923 |
Primary Intestinal Lymphangiectasia |
|
Edema, Pericardial effusion, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Pleural ... |
ORPHA:90362 |
Propionic Acidemia |
|
Apnea, Tachypnea, Cerebral atrophy, Dystonia, Failure to thrive, Limb hypertonia |
OMIM:606054 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphedema, P... |
OMIM:235510 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Macroglossia, Bradycardia, Large for gestational age |
ORPHA:226313 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Abnormal circulating acylcarnitine concentration, Increased circulating fr... |
ORPHA:71212 |
Aortic Arch Interruption |
|
Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Pedal edema, Aortop... |
ORPHA:2299 |
Juvenile Huntington Disease |
|
Cerebellar atrophy, Ataxia, Rigidity, Chorea, Weight loss, Gait ataxia, Progressive cerebellar at... |
ORPHA:248111 |
Hypokalemic Periodic Paralysis |
|
Paralysis, Abnormal muscle fiber morphology, Respiratory paralysis, Increased intramyocellular li... |
ORPHA:681 |
Amish Nemaline Myopathy |
|
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Type 1 muscle fiber p... |
ORPHA:98902 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Hydrops fetalis, Respiratory insufficiency, Cardiomyopathy, Atrial sep... |
ORPHA:1909 |
Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Atrioventricular canal defect, Bradycardia, Conotruncal defect |
ORPHA:40366 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Lower limb spasticity, ... |
ORPHA:206436 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Ventricular tachycardia, Syncope |
OMIM:615821 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Cerebellar atrophy, Exaggerated startle response, Apnea, Tremor, Truncal titubation, Dysmetria, G... |
OMIM:618056 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
Gm1-Gangliosidosis, Type I |
|
Abnormal heart valve morphology, Congestive heart failure, Dilated cardiomyopathy, Hydrops fetali... |
OMIM:230500 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Hyperekplexia 3 |
|
Respiratory arrest, Exaggerated startle response, Apnea |
OMIM:614618 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Elevated circulating creatine kinase concentration, Dyspnea, Lipoid pneumonia, EMG: myopathic abn... |
OMIM:620326 |
Joubert Syndrome 7 |
|
Central apnea, Ataxia, Episodic tachypnea, Tachypnea, Neonatal breathing dysregulation |
OMIM:611560 |
Lethal Congenital Contracture Syndrome 8 |
|
Flexion contracture, Vocal cord paralysis, Facial diplegia, Distal amyotrophy, Distal arthrogryposis |
OMIM:616287 |
Behçet Disease |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Myositis, Pericarditis, Myocardial infarction,... |
ORPHA:117 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Peripheral axonal neuropathy, Chor... |
OMIM:606002 |
Spinal Arachnoiditis |
|
Spastic paraparesis |
OMIM:182950 |
Arthrogryposis Multiplex Congenita 6 |
|
Respiratory failure, Neonatal death, Increased variability in muscle fiber diameter, Nemaline bod... |
OMIM:619334 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Painless fractures due to injury, Decreased sensory nerve conduction velocity, Decreased nerve co... |
OMIM:201300 |
Tetanus |
|
Respiratory distress, Tachycardia, Elevated circulating creatine kinase concentration, Tachypnea,... |
ORPHA:3299 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema |
OMIM:618773 |
Congenital Left Ventricular Aneurysm |
|
Apnea, Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnorma... |
ORPHA:1055 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al... |
ORPHA:352479 |
Developmental And Epileptic Encephalopathy 99 |
|
Central apnea, Cerebellar atrophy, Frontotemporal cerebral atrophy, Atrophy/Degeneration affectin... |
OMIM:619606 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cerebral edema |
OMIM:611126 |
3-Methylglutaconic Aciduria Type 3 |
|
Choreoathetosis, Ataxia, Spastic paraparesis |
ORPHA:67047 |
Kearns-Sayre Syndrome |
|
Cardiomyopathy, Arrhythmia, Ragged-red muscle fibers, Third degree atrioventricular block |
OMIM:530000 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Dystonia, Apnea, Abnormal autonomic nervous system physiology, Hyperventilation |
OMIM:617903 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Gait disturbance, Type 1... |
ORPHA:424107 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Tricuspid regurgitation, Bicuspid aortic valve, Congenital diaphragmatic hernia, Spina bifida, Pa... |
ORPHA:1120 |
Acute Transverse Myelitis |
|
Impaired vibratory sensation, Back pain, Somatic sensory dysfunction, Fatigue, Orthostatic hypote... |
ORPHA:139417 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Failure to thrive, Apnea |
OMIM:614883 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Weight loss, Bradykinesia, Cerebral cortical atrophy, Action tremor |
OMIM:606438 |
Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Pneumonia, Right ventricular f... |
ORPHA:97287 |
Alexander Disease Type Ii |
|
Ataxia, Rigidity, Palatal tremor, Babinski sign, Spasticity, Abnormal autonomic nervous system ph... |
ORPHA:363722 |
Joubert Syndrome 9 |
|
Apnea, Episodic tachypnea |
OMIM:612285 |
Gorham-Stout Disease |
|
Torticollis, Edema, Spinal cord compression, Pleural effusion, Rhinorrhea |
ORPHA:73 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Flexion contracture, Muscle fiber atrophy, Aspiration, Hypoventilation, Facial palsy, A... |
ORPHA:258 |
Meckel Syndrome, Type 8 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
Malignant Hyperthermia Of Anesthesia |
|
Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Hypercapnia, High-output congestive heart ... |
ORPHA:423 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Hypotaurinemia, Mitral valve prolapse |
OMIM:145350 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormal peripheral myelination, Hand muscle weakness, Limb-girdle muscle weakness, Upper limb mu... |
ORPHA:466768 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Dyspnea, Tachypnea, Restrictive ventilatory defect, Cough, Decreased DLCO |
OMIM:616414 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Cerebral atrophy, Joint contracture, Apnea, Respiratory insufficiency |
OMIM:614462 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Hip contracture, Exaggerated startle response, Apnea, Flexion contracture, Elbow flexion contract... |
OMIM:617301 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... |
ORPHA:392 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Apnea, Cardiac arrest, Edema, Tachypnea, Dilated cardiomyopathy, Hyperammonemia, Weight loss, Deh... |
ORPHA:20 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Neonatal respiratory distress, Polyhydramnios, Type 1 muscle fiber atrophy, Cerebral atrophy, Typ... |
OMIM:619036 |
Benign Familial Infantile Epilepsy |
|
Apnea |
ORPHA:306 |
Juvenile Dermatomyositis |
|
Calcinosis, Bundle branch block, Myositis, Pericarditis, Gastrointestinal hemorrhage, Angina pect... |
ORPHA:93672 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left vent... |
OMIM:613876 |
Lujo Hemorrhagic Fever |
|
Shock, Respiratory distress, Crackles, Elevated circulating C-reactive protein concentration, Fac... |
ORPHA:319213 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mo... |
ORPHA:183 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart murmur, Pedal ... |
ORPHA:422 |
Alkuraya-Kucinskas Syndrome |
|
Edema, Pericardial effusion, Camptodactyly, Arthrogryposis multiplex congenita, Pleural effusion |
OMIM:617822 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Camptodactyly of finger, Abnormal pulmonary valve morphology, Congestive heart failure, Cryptorch... |
ORPHA:1194 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh... |
ORPHA:1345 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyhydramnios, Pericardial effusion, Cryptorchidism, Recurre... |
OMIM:618183 |
Leukodystrophy, Hypomyelinating, 3 |
|
Appendicular spasticity, Corpus callosum atrophy, Abnormal pyramidal sign, Spastic paraparesis, J... |
OMIM:260600 |
Pontocerebellar Hypoplasia, Type 7 |
|
Skeletal muscle atrophy, Apnea, Ataxia, Synophrys, Optic atrophy, Cerebral atrophy, Opisthotonus,... |
OMIM:614969 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... |
OMIM:615474 |
Tuberculosis |
|
Fatigue, Weight loss |
ORPHA:3389 |
Neurological Conditions Associated With Aminoacylase 1 Deficiency |
|
Syringomyelia, Apnea |
ORPHA:137754 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Abnormal muscle fiber mo... |
ORPHA:79102 |
Myotonic Dystrophy 1 |
|
Respiratory distress, Atrial flutter, Atrial fibrillation, First degree atrioventricular block, P... |
OMIM:160900 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Inability to walk, Increased variability in muscle fiber diameter, Ataxia, Gait ataxia |
OMIM:617915 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Tetraplegia/tetraparesis, Progressive spastic paraparesis, Babinski sign, Ankle clonus, Progressi... |
ORPHA:506353 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Skeletal muscle atrophy, Multiple joint contractures, Respiratory insufficiency du... |
OMIM:618291 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypertriglyceridemia, Nonimmune hydrops fetalis, Pericardial effusion, Increased circulating ferr... |
OMIM:619313 |
Acute Peripheral Arterial Occlusion |
|
Limb muscle weakness, Paralysis |
ORPHA:90064 |
Myopathy With Lactic Acidosis, Hereditary |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Dyspnea, Rhabdomyoly... |
OMIM:255125 |
Follicular Lymphoma |
|
Lymphedema, Pleural effusion, Weight loss |
ORPHA:545 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a... |
OMIM:620203 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Peripheral axona... |
ORPHA:254930 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Lymphedema, Atrioventricular block, Emphysema, ... |
ORPHA:324 |
Cardiomyopathy, Dilated, 2E |
|
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function |
OMIM:619492 |
Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe... |
OMIM:153400 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia, Dilated cardiomyopathy, Ventricular septal defect, Edema |
OMIM:618348 |
Dominant Beta-Thalassemia |
|
Failure to thrive in infancy, Hypoplasia of the musculature, Dyspnea, High-output congestive hear... |
ORPHA:231226 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Dilated cardiomyopathy, Ventricular septal defect, Hypoalbuminemia |
OMIM:616730 |
Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
Chronic Hiccup |
|
Abnormality of the diaphragm, Recurrent singultus, Weight loss |
ORPHA:396 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Apnea, Oculogyric crisis, Limb tremor, Cardiorespirato... |
OMIM:608643 |
Mcdonough Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Cachexia |
ORPHA:2471 |
Hyperekplexia 1 |
|
Aspiration, Exaggerated startle response, Apnea |
OMIM:149400 |
Ovarian Hyperstimulation Syndrome |
|
Generalized edema, Hypovolemia, Capillary leak, Peripheral edema, Pleural effusion, Ascites, Pulm... |
ORPHA:64739 |
Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Cataract, Corneal ero... |
OMIM:203780 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Cerebellar atrophy, Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventric... |
OMIM:620066 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased muscle mass, Portal hypertension, Cardiomegaly, Congestive heart failure, Increased cir... |
ORPHA:465508 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Idiopathic Achalasia |
|
Bronchitis, Wheezing, Weight loss, Cough, Decreased prealbumin level, Recurrent aspiration pneumonia |
ORPHA:930 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Hip contracture, Scapular winging, Limb joint contracture, Shoulder flexion... |
OMIM:620369 |
Arachnoid Cyst |
|
Back pain, Facial palsy, Urinary incontinence, Abdominal pain, Paraparesis, Cranial nerve compres... |
ORPHA:2356 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Hypertension, Az... |
OMIM:300845 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Corpus callosum atrophy, Decreased nerve conduction velocity, Cryptorchidism, ... |
ORPHA:565624 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated creatine kinase after exercise, Sudden episodic apnea, Elevated circulating acylcarnitin... |
ORPHA:159 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Loss of ability to walk in early childhood, Inability to walk, Ragged-red muscle fibers, Limb mus... |
OMIM:609560 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Flexion contracture, Respiratory insufficiency, Proximal muscle weakness... |
OMIM:310440 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Cerebellar atrophy, Decreased distal sensory nerve action potential, Ataxia, Limb ataxia, Gait at... |
OMIM:614575 |
Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Skeletal muscle atrophy, Distal lower... |
ORPHA:276244 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, EEG ... |
ORPHA:206443 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Tachycardia, Elevated circulating creatine kinase concentration, Pulmonary embolism... |
ORPHA:94093 |
Cerebrotendinous Xanthomatosis |
|
Axonal degeneration, Abnormal pyramidal sign, Ataxia, Parkinsonism, Distal amyotrophy, Spastic pa... |
ORPHA:909 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... |
OMIM:613874 |
X-Linked Creatine Transporter Deficiency |
|
Aganglionic megacolon, Ataxia, Cachexia, Chorea, Athetosis, Hypertonia |
ORPHA:52503 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, Cachexia, Elbow flexion contracture, Spastic tetraplegia, Knee flexion contractu... |
ORPHA:371364 |
Biotinidase Deficiency |
|
Respiratory distress, Alopecia, Apnea, Ataxia, Optic neuropathy, Myelopathy, Optic atrophy, Limb ... |
ORPHA:79241 |
Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Frontotemporal cerebral atrophy, Myoclo... |
ORPHA:391417 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Respiratory insuffici... |
ORPHA:1166 |
Spinal Arteriovenous Metameric Syndrome |
|
Fatigue, Paraparesis, Bone pain, Arthralgia, Gangrene |
ORPHA:53721 |
Acromicric Dysplasia |
|
Decreased nerve conduction velocity |
ORPHA:969 |
Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Increased circulating ferritin concentration, Pleural effusion, Elevated ci... |
OMIM:613011 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Prolonged QT interval, Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kin... |
OMIM:615351 |
Cataract 3, Multiple Types |
|
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Optic Atrophy 11 |
|
Ataxia, Optic nerve hypoplasia, EEG with focal sharp waves, Optic atrophy, Dysmetria, Athetosis, ... |
OMIM:617302 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Ane Syndrome |
|
Motor neuron atrophy, Alopecia, Multiple joint contractures, Generalized amyotrophy |
ORPHA:157954 |
Friedreich Ataxia |
|
Impaired vibratory sensation, Ataxia, Impaired proprioception, Optic atrophy, Limb ataxia, Gait a... |
OMIM:229300 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Nonproductive cough... |
ORPHA:723 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Neurofibromatosis, Familial Spinal |
|
Symmetric spinal nerve root neurofibromas, Paraparesis, Neurofibroma, Plexiform neurofibroma, Low... |
OMIM:162210 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal lymphedema, Edema, Right ventricular failure, Lymphedema, Reduced circulating transfer... |
ORPHA:90363 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Epistaxis, Pericardial effusion, Dyspnea, Abnormal lung morphology, Subconju... |
ORPHA:464329 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Ataxia, Lower limb m... |
ORPHA:206448 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Congestive heart failure, Asthma, ... |
OMIM:203800 |
Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Polyhydramnios, Perior... |
OMIM:616843 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema, Flexion contracture, Abnormal heart valve morphology, Congenital diaphragmatic hernia |
ORPHA:171719 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... |
OMIM:615616 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Skeletal muscle atrophy, Failure to thrive, Decreased serum iron, Flexion contracture, Dilated ca... |
ORPHA:89842 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Cataract, Iris coloboma |
OMIM:120433 |
Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Portal hypertension, Edema, Polyhydramnios, Hydrops fetalis, Cardiomyopa... |
OMIM:232500 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio... |
OMIM:613690 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Facial palsy, Ankle flexion contracture, Type 1 muscle fiber atrophy, Choreoathetosis, Distal amy... |
OMIM:617519 |
48,Xxyy Syndrome |
|
Apnea, Ataxia, Tremor, Asthma, Obesity |
ORPHA:10 |
Hellp Syndrome |
|
Pulmonary edema, Cerebral hemorrhage, Increased body weight, Hypotension, Pleural effusion, Inter... |
ORPHA:244242 |
Nocardiosis |
|
Respiratory distress, Pericarditis, Abnormal heart valve morphology, Pneumonia, Productive cough,... |
ORPHA:31204 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Biotinidase Deficiency |
|
Alopecia, Diffuse cerebral atrophy, Apnea, Ataxia, Tachypnea, Optic atrophy, Diffuse cerebellar a... |
OMIM:253260 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Hypoplastic left atri... |
OMIM:615524 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Tremor, Flexion contracture, Apnea, Respiratory insufficiency |
OMIM:608093 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
Pontocerebellar Hypoplasia, Type 13 |
|
Recurrent respiratory infections, Edema, Asthma, Pleural effusion, Failure to thrive |
OMIM:618606 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
Bone Dysplasia, Lethal Holmgren Type |
|
Recurrent respiratory infections, Patent ductus arteriosus, Respiratory insufficiency, Weight los... |
ORPHA:1842 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Myopathy, Periodic paralysis |
OMIM:613345 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Apnea, Optic atrophy, Respiratory insufficiency, Contractures of th... |
ORPHA:521426 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Hy... |
ORPHA:69735 |
Mantle Cell Lymphoma |
|
Fatigue, Weight loss |
ORPHA:52416 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Amyotrophic lateral sclerosis, Ataxia, Cerebral cortical atrophy |
OMIM:615911 |
Kcnq2-Related Epileptic Encephalopathy |
|
Apnea, Cerebral atrophy, Dystonia |
ORPHA:439218 |
Typical Nemaline Myopathy |
|
Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Increased variability in muscle f... |
ORPHA:171436 |
Joubert Syndrome 3 |
|
Central apnea, Ataxia, Episodic tachypnea, Highly arched eyebrow, Neonatal breathing dysregulation |
OMIM:608629 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal... |
OMIM:612124 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular tachycardia, Myocardial fibrosis, Palp... |
OMIM:613873 |
Renpenning Syndrome |
|
Skeletal muscle atrophy, Cachexia |
ORPHA:3242 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Fai... |
OMIM:300952 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hepatic necrosis |
OMIM:231530 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Apnea, Ataxia, Atrophy of the spinal cord, Optic atrophy, Brain atrophy, Failure to thrive, Lower... |
ORPHA:395 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Palpebral edema, Edema, Pulmonary embolism, Facial edema, Dyspnea, Hyperlipidemia, Respiratory tr... |
ORPHA:567546 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Tachypnea, Decreased body weight |
OMIM:620085 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Optic atrophy, Cerebral atrophy, Bradykinesia... |
ORPHA:329284 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, El... |
ORPHA:26791 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:730 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Neonatal respiratory distress, Myocardial infarction, Cardiomegaly, Congestive heart failure, Dil... |
OMIM:208000 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left ventricular hypertrophy, Left atrial enlargement, Elevated circulat... |
OMIM:300280 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
Presynaptic Congenital Myasthenic Syndromes |
|
Sudden episodic apnea, Ataxia, Intermittent episodes of respiratory insufficiency due to muscle w... |
ORPHA:98914 |
Congenital Myasthenic Syndrome |
|
Sudden episodic apnea, Ataxia, Intermittent episodes of respiratory insufficiency due to muscle w... |
ORPHA:590 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Apnea, Optic atrophy, Respiratory insufficiency, Contractures of th... |
OMIM:617527 |
Cednik Syndrome |
|
Optic atrophy, Ataxia, Abnormality of peripheral nerve conduction |
ORPHA:66631 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Ragg... |
OMIM:617070 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocardi... |
ORPHA:3342 |
Machado-Joseph Disease Type 1 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Neurogenic bladder, Facial-lingual fascicu... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Neurogenic bladder, Facial-lingual fascicu... |
ORPHA:276241 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Joint contracture, Optic atrophy |
OMIM:615419 |
Spastic Paraplegia Type 7 |
|
Ragged-red muscle fibers, Abnormal pyramidal sign, Babinski sign, Upper limb muscle weakness, Low... |
ORPHA:99013 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Angina pectoris, Elevated circulating creatine kinase concentration, Dyspnea, Hyperlipidemia, Inc... |
ORPHA:565612 |
Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Weight loss, Gait ataxia, Bradyk... |
OMIM:137440 |
Beta-Thalassemia Major |
|
Failure to thrive in infancy, Hypoplasia of the musculature, Dyspnea, High-output congestive hear... |
ORPHA:231214 |
Friedreich Ataxia |
|
Decreased motor nerve conduction velocity, Hand muscle atrophy, Chorea, Impaired proprioception, ... |
ORPHA:95 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Bilateral cryptorchidism, Congestive heart failure, Dilated cardiomyopathy,... |
ORPHA:2326 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Pain insensitivity, Impaired temperature sensation, Distal sensory impairment, Distal amyotrophy,... |
ORPHA:36386 |
Congenital Sialidosis Type 2 |
|
Abnormal EKG, Edema, Respiratory tract infection, Optic atrophy, Telangiectasia, Abnormal heart m... |
ORPHA:93400 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Small for gestational age, Optic atrophy, Contractures of the large joints, Apneic episodes in in... |
ORPHA:3078 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Aganglionic megacolon, Patent ductus arteriosus, Flexion ... |
OMIM:613870 |
D-Glyceric Aciduria |
|
Neonatal respiratory distress, Optic nerve hypoplasia, Patent ductus arteriosus, Nonketotic hyper... |
OMIM:220120 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Aminoaciduria, Cataract |
ORPHA:2278 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Abnormal left ventricular function, Hypocalcemia, Cough, Elevated hepatic iron conc... |
OMIM:619991 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Ventricular hypertrophy, Elevated circulating creatine kinase concentration, Elevated circulating... |
ORPHA:228305 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema, Congenital diaphragmatic hernia, Abnormal heart morphology |
OMIM:614100 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia, Brain at... |
ORPHA:314655 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Neuromuscular Oculoauditory Syndrome |
|
Decreased nerve conduction velocity, Knee flexion contracture, Calf muscle hypertrophy, Muscle fi... |
OMIM:618733 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Optic neuropathy, Axonal degeneration, Neurodegeneration, Abnormal autonomic nervous system physi... |
ORPHA:478029 |
Overlap Myositis |
|
Proximal muscle weakness in upper limbs, Abnormal circulating lipid concentration, Elevated circu... |
ORPHA:206572 |
Joubert Syndrome |
|
Aganglionic megacolon, Apnea, Episodic tachypnea, Highly arched eyebrow, Tremor, Ataxia, Abnormal... |
ORPHA:475 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Optic disc pallor, Ventricular septal defect, Shortened PR interv... |
OMIM:614947 |
Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
Bethlem Myopathy |
|
Hypoventilation, Reduced maximal expiratory pressure, Multiple joint contractures, Reduced muscle... |
ORPHA:610 |
Infantile Neuroaxonal Dystrophy |
|
Cerebellar atrophy, Ataxia, Flexion contracture, Optic atrophy, Apneic episodes in infancy, Abnor... |
ORPHA:35069 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... |
ORPHA:536516 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Ragged-red muscle fiber... |
ORPHA:254864 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia |
ORPHA:141152 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Cryptorchidism, Patent ductus arteriosus, Tachypnea, C... |
OMIM:614857 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Hepatosplenomegaly |
OMIM:273680 |
Scimitar Syndrome |
|
Respiratory distress, Heart block, Abnormal lung morphology, Hypoplasia of the diaphragm, Pulmona... |
ORPHA:185 |
Heart-Hand Syndrome, Spanish Type |
|
Sick sinus syndrome |
OMIM:140450 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Telangiectasia of the skin, Congenital diaphragmatic hernia, Retinal telangie... |
ORPHA:438134 |
Aniridia 2 |
|
Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
Whipple Disease |
|
Fatigue, Myositis, Ataxia, Cachexia, Abdominal pain, Abnormal pyramidal sign, Arthralgia, Chest p... |
ORPHA:3452 |
Nestor-Guillermo Progeria Syndrome |
|
Left atrial enlargement, Dyspnea, Flexion contracture, Right bundle branch block, Hypertension, M... |
OMIM:614008 |
Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn... |
OMIM:300559 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Hypomethioninemia, Methylmalonic acidemia, Pulmonary embolism, Atrophy of t... |
ORPHA:79282 |
Bohring-Opitz Syndrome |
|
Recurrent respiratory infections, Facial hypotonia, Apnea, Cardiomegaly, Bilateral wrist flexion ... |
ORPHA:97297 |
Adams-Oliver Syndrome 5 |
|
Right atrial enlargement, Pulmonic stenosis, Pulmonary arterial hypertension, Patent foramen oval... |
OMIM:616028 |
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin |
OMIM:609438 |
Sialidosis Type 1 |
|
Decreased nerve conduction velocity, EEG abnormality, Ataxia, Skeletal muscle atrophy |
ORPHA:812 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal respiratory distress, Nonimmune hydrops fetalis, Hyperprolinemia, Cardiomyopathy, Pulmon... |
OMIM:619003 |
Porphyria, Acute Hepatic |
|
Respiratory paralysis, Paralysis |
OMIM:612740 |
Double Outlet Right Ventricle |
|
Tachycardia, Failure to thrive, Ventricular septal defect, Tachypnea, Double outlet right ventric... |
ORPHA:3426 |
Infantile Refsum Disease |
|
Facial palsy, Elevated circulating phytanic acid concentration, Optic atrophy, Cardiomyopathy, Ar... |
ORPHA:772 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Patent ductus arteriosus, Ventricular septal defect, Pedal edema, Sinus bradycardia |
OMIM:126320 |
Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
Brucellosis |
|
Pericarditis, Lung abscess, Transient ischemic attack, Pneumonia, Elevated circulating C-reactive... |
ORPHA:1304 |
8P23.1 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Pulmonary artery stenosis, Patent ductus arterio... |
ORPHA:251071 |
Chédiak-Higashi Syndrome |
|
Cerebellar atrophy, Hyponatremia, Recurrent respiratory infections, Hypertriglyceridemia, Epistax... |
ORPHA:167 |
Neuroendocrine Tumor Of The Colon |
|
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Wei... |
ORPHA:100080 |
Chromosome 5Q12 Deletion Syndrome |
|
Ventricular septal defect, Increased nuchal translucency, Patent ductus arteriosus, Macroglossia,... |
OMIM:615668 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Tachycardia, Large for gestational age, Decreased circulating free fatty acid level, Syncope, Pal... |
ORPHA:276556 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Long Qt Syndrome 10 |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... |
OMIM:611819 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Cerebellar atrophy, Optic disc pallor, Ataxia, Tachypnea, Cerebral atrophy, Respiratory failure, ... |
OMIM:615838 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Failure to thrive, Apnea, Opisthotonus |
OMIM:210200 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
Leukodystrophy, Hypomyelinating, 5 |
|
Decreased motor nerve conduction velocity, Lower limb amyotrophy, Onion bulb formation, Lower lim... |
OMIM:610532 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Exercise-induced rhabdomyolysis, Decreased muscle mass, Elevated creatine kinase after exercise, ... |
ORPHA:57 |
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Limb muscle weakness |
OMIM:619133 |
Idiopathic Bronchiectasis |
|
Myocardial infarction, Crackles, Productive cough, Dyspnea, Wheezing, Cachexia, Respiratory tract... |
ORPHA:60033 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Dyspnea, Patent ductus arte... |
ORPHA:555877 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... |
ORPHA:444013 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Generalized limb muscle atrophy, Facial diplegia, Cardiomyopathy, Abnormal circulating creatine k... |
ORPHA:521411 |
Sepsis In Premature Infants |
|
Tachycardia, Small for gestational age, Abnormal mucociliary clearance, Elevated circulating C-re... |
ORPHA:90051 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Farber Disease |
|
Skeletal muscle atrophy, Paraparesis, Flexion contracture, Arthralgia, Myoclonus, Brain atrophy, ... |
ORPHA:333 |
Oculogastrointestinal Muscular Dystrophy |
|
Skeletal muscle atrophy, Myopathy, Cachexia |
ORPHA:1876 |
Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Failure to thrive, Decreased numbe... |
ORPHA:99949 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... |
OMIM:617114 |
Dextrocardia |
|
Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormal lung lobation, Abnormal heart morpho... |
ORPHA:1666 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... |
OMIM:618920 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Metachromatic Leukodystrophy |
|
Ataxia, Decreased nerve conduction velocity, Chorea, Optic atrophy, Peripheral demyelination |
OMIM:250100 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Abnormal autonomic nervous system ... |
ORPHA:101016 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Lymphedema, Dyspnea, Atelectasis, ... |
ORPHA:538 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Hypertonia, Cachexia |
ORPHA:1389 |
Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology, Skeletal muscle atrophy |
ORPHA:247604 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Calf muscle hype... |
OMIM:613157 |
Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Failure to thrive in infancy, Congestive heart failure, Rhabdomyolysis, ... |
ORPHA:746 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Dyspnea, Apnea, Hyperventilation |
OMIM:229700 |
Myotonia Fluctuans |
|
Stridor, Apnea, Spasticity of facial muscles |
ORPHA:99734 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Sarcoidosis, Susceptibility To, 1 |
|
Optic neuropathy, Pericardial effusion, Dyspnea, Bronchiectasis, Abnormal pulmonary interstitial ... |
OMIM:181000 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Aminoaciduria, Cataract |
ORPHA:79238 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Failure to thrive in infancy, Decreased n... |
ORPHA:477817 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Tachycardia, Large for gestational age, Decreased circulating free fatty acid level, Syncope, Pal... |
ORPHA:276575 |
Horner Syndrome, Congenital |
|
Paralysis |
OMIM:143000 |
Singleton-Merten Syndrome 1 |
|
Recurrent respiratory infections, Mitral valve calcification, Cardiomegaly, Aortic valve calcific... |
OMIM:182250 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers, Tetraparesis, Involuntary movements, Upper limb postural tremor |
ORPHA:477774 |
Yao Syndrome |
|
Ventricular hypertrophy, Pericarditis, Asthma, Xerostomia, Weight loss, Pleuritis |
OMIM:617321 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Myopathy, Increased variability in mu... |
OMIM:125250 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Abnormal EKG, Acute rhabdomyolysis, Elevated circulating creatine kinase c... |
ORPHA:480864 |
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Highly arched eyebrow, Respiratory insufficiency, Type 2 muscle fiber predominance, Increased var... |
OMIM:619173 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Rhabdomyolysis, Weight loss, Hypokalemia, Palpitations |
OMIM:188580 |
Vici Syndrome |
|
Recurrent respiratory infections, Failure to thrive, Elevated circulating creatine kinase concent... |
OMIM:242840 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
Neutrophilic Dermatosis, Acute Febrile |
|
Small vessel vasculitis, Dilated cardiomyopathy, Elevated circulating C-reactive protein concentr... |
OMIM:608068 |
Eosinophilic Fasciitis |
|
Fatigue, Myositis, Weight loss, Arthralgia, Paresthesia, Myalgia, Muscular edema |
ORPHA:3165 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Respiratory distress, Myositis, Tachycardia, Sinusitis, Pneumonia, Elevated circulating cr... |
ORPHA:36234 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Skeletal muscle atrophy, Methylmalonic acidemia, Abnormal mitochondrial sha... |
ORPHA:17 |
Refsum Disease, Classic |
|
Cardiomegaly, Congestive heart failure, Elevated circulating phytanic acid concentration, Cardiom... |
OMIM:266500 |
Congenital Tracheomalacia |
|
Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn... |
ORPHA:95430 |
Joubert Syndrome With Renal Defect |
|
Aganglionic megacolon, Apnea, Highly arched eyebrow, Ataxia, Tremor, Abnormal pattern of respiration |
ORPHA:220497 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Methionine Malabsorption Syndrome |
|
Tachypnea, White hair |
OMIM:250900 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular septal hypertrophy, Right bundle branc... |
OMIM:115195 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Elevated circulating creatine kinase concentration, Respiratory insufficiency due to muscle weakn... |
OMIM:607855 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Lethal Infantile Mitochondrial Myopathy |
|
Cardiomyopathy, Neonatal respiratory distress |
ORPHA:254857 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Increased circulating surfactant protein level, Oxyge... |
ORPHA:60025 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Sick Sinus Syndrome 3, Susceptibility To |
|
Sick sinus syndrome |
OMIM:614090 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Global brain atrophy |
OMIM:616811 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Cerebellar atrophy, Neonatal respiratory distress, Apnea, Ataxia, Cerebral ... |
OMIM:618426 |
Lethal Congenital Contracture Syndrome 9 |
|
Elbow extension contracture, Polyhydramnios, Centrally nucleated skeletal muscle fibers, Flexion ... |
OMIM:616503 |
Myelopathy, Htlv-1-Associated |
|
Abnormal pyramidal sign, Spastic paraparesis |
OMIM:159580 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Decreased motor nerve conduction velocity, Failure to thrive, Ataxia, Facial palsy, Foot joint co... |
ORPHA:456312 |
Neuroendocrine Tumor Of The Rectum |
|
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Wei... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Wei... |
ORPHA:100082 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Hypsar... |
ORPHA:485421 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Ataxia, Involuntary movements, Babinski sign, Clumsiness, Athetosis, Distal amyotrophy, Loss of a... |
OMIM:271245 |
Familial Mediterranean Fever |
|
Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Elevated circulati... |
OMIM:249100 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Ragged-red muscle fibers, Difficulty walking |
OMIM:619024 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Aganglionic megacolon, Hypoxemia, A... |
OMIM:209880 |
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
|
Elevated circulating creatine kinase concentration, Respiratory insufficiency, Cerebral atrophy, ... |
ORPHA:324525 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Dystonia, Ataxia, Crackles, Asthma, Tachypne... |
OMIM:610978 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Optic atrophy, Apnea, Cerebral atrophy |
OMIM:261680 |
Tenorio Syndrome |
|
Apnea, Recurrent pneumonia, Macroglossia, Cerebral cortical atrophy, Thick eyebrow, Hypertrichosis |
OMIM:616260 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Epistaxis, Periorbital edema, Congestive heart failure, Vasculitis, ... |
ORPHA:33226 |
Propionic Acidemia |
|
Cardiomyopathy, Arrhythmia, Hyperammonemia |
ORPHA:35 |
Igg4-Related Pachymeningitis |
|
Low back pain, Somatic sensory dysfunction, Paraparesis, Abnormality of cervical plexus, Abnormal... |
ORPHA:449427 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Apnea, Inspiratory stridor |
OMIM:600721 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Tachycardia, Large for gestational age, Syncope, Palpitations, Hypertrophic cardiomyopathy, Incre... |
ORPHA:276580 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cerebellar atrophy, Apnea, Ataxia, Gait ataxia, Choreoathetosis, Opisthotonus, Limb hypertonia |
OMIM:619580 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of finger, Congestive ... |
ORPHA:354 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Skeletal muscle atrophy, Sudden cardiac death, Arrhythmia, Transient hyperlipidemia, Hypertrophic... |
ORPHA:156 |
Alg1-Cdg |
|
Cerebellar atrophy, Cerebral atrophy, Abnormal heart morphology, Cardiomyopathy, Respiratory fail... |
ORPHA:79327 |
Joubert Syndrome With Oculorenal Defect |
|
Aganglionic megacolon, Ataxia, Apnea, Highly arched eyebrow, Tachypnea |
ORPHA:2318 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Cardiomyopathy, Flexion contracture, Myopathy, Nemaline bodies |
OMIM:616549 |
Bilateral Perisylvian Polymicrogyria |
|
Lower limb spasticity, Paraparesis, Flexion contracture, Oromotor apraxia, Spastic tetraplegia, D... |
ORPHA:98889 |
Zygomycosis |
|
Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Epistaxis, Hematemesis, Myocarditis, Perior... |
ORPHA:73263 |
Hypoadrenocorticism, Familial |
|
Apnea |
OMIM:240200 |
Huntington Disease-Like 1 |
|
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Wei... |
ORPHA:157941 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
Perry Syndrome |
|
Hypoventilation, Central hypoventilation, Tremor, Respiratory insufficiency, Weight loss, Dystoni... |
OMIM:168605 |
Aicardi-Goutieres Syndrome 9 |
|
Pericarditis, Portal hypertension, Edema, Pericardial effusion, Optic atrophy, Cerebral atrophy, ... |
OMIM:619487 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Small for gestational age, Episodic tachypnea, Hyperammonemia, Elevated... |
OMIM:615160 |
Neuraminidase Deficiency |
|
Skeletal muscle atrophy, Cardiomegaly, Facial edema, Hydrops fetalis, Cardiomyopathy, Ascites |
OMIM:256550 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Alopecia, Ataxia, Tachypnea, Weight loss |
ORPHA:79242 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Apneic episodes in infancy, Episodic tachypnea |
ORPHA:163961 |
Citrullinemia Type I |
|
Failure to thrive, Torticollis, Tachypnea, Ataxia |
ORPHA:247525 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Tricuspid regurgitation, Congenital diaphragmatic hernia, Dyspnea, Dilated ... |
ORPHA:2556 |
Serkal Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary hypoplasia, Pulmonic stenos... |
ORPHA:139466 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, T... |
ORPHA:2872 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Failure to thrive, Facial edema, Macroglossia, Bradycardia, Macroorchidism, Hypercholesterolemia,... |
ORPHA:90674 |
Sarcoidosis |
|
Abnormal pleura morphology, Abnormal cardiac ventricular function, Facial palsy, Portal hypertens... |
ORPHA:797 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, Spa... |
OMIM:606353 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Ataxia, Aganglionic megacolon, Short-segment ag... |
OMIM:609136 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiac arrest, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy,... |
OMIM:617713 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Edema, Macroglossia, Bradycardia, Neonatal hyperbiliru... |
ORPHA:90673 |
Encephalitis Lethargica |
|
Upper limb muscle weakness, Bradycardia, Hyperventilation |
ORPHA:83600 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Facial hypotonia, Apnea, Ataxia, Tremor, Chorea, Choreoathetosis, Abnormal ... |
ORPHA:2131 |
Neuronal Intestinal Pseudoobstruction |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia |
ORPHA:99811 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Apnea, Hypercapnia, Respiratory insufficiency, Apneic episodes in infancy, Dystonia |
OMIM:618222 |
Primary Sclerosing Cholangitis |
|
Portal hypertension, Spider hemangioma, Congestive heart failure, Weight loss, Hypoalbuminemia, G... |
ORPHA:171 |
Butyrylcholinesterase Deficiency |
|
Paralysis |
ORPHA:132 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... |
ORPHA:369929 |
De Sanctis-Cacchione Syndrome |
|
Ataxia, Axonal degeneration, Optic atrophy, Scissor gait, Cerebral atrophy, Babinski sign, Choreo... |
OMIM:278800 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Fetal Encasement Syndrome |
|
Bilateral trilobed lung, Tetralogy of Fallot, Congenital diaphragmatic hernia |
OMIM:613630 |
Majeed Syndrome |
|
Cachexia, Flexion contracture, Bone pain, Weight loss, Arthralgia, Myalgia, Failure to thrive |
ORPHA:77297 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cryptorchidism, Optic atrophy, Cardiomyopathy,... |
OMIM:249270 |
Huntington Disease |
|
Caudate atrophy, Clonus, Involuntary movements, Rigidity, Chorea, Babinski sign, Cerebral atrophy... |
ORPHA:399 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Optic atrophy, Hyperammonemia, Dehydration, Cardiomyopathy, Failure to thrive |
ORPHA:79312 |
Glossopharyngeal Neuralgia |
|
Cranial nerve compression, Jaw claudication, Weight loss, Abnormal glossopharyngeal nerve morphol... |
ORPHA:221098 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Urinary incontinence, Bowel incontinence, Parkinsonism, Rigidity, Babinski sign, Optic atrophy, H... |
ORPHA:289560 |
Emanuel Syndrome |
|
Recurrent respiratory infections, Torticollis, Truncus arteriosus, Ventricular septal defect, Con... |
OMIM:609029 |
Joubert Syndrome With Ocular Defect |
|
Aganglionic megacolon, Apnea, Highly arched eyebrow, Ataxia, Tremor, Abnormal pattern of respiration |
ORPHA:220493 |
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia |
|
Atrophy of the spinal cord, Truncal ataxia, Spastic paraparesis, Palatal tremor, Cerebral cortica... |
OMIM:113610 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Cerebellar atrophy, Recurrent respiratory infections, Flexion contracture, Cerebral atrophy, Sinu... |
OMIM:618397 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Limb-girdle muscle weakness, Optic atrophy, Myopathy, Cardio... |
ORPHA:1215 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Bicuspid aortic valve, Polyhydramnios, Lymphedema, Cryptorchidism, Mitral regurgitation, Chylotho... |
OMIM:613563 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Right ventricular dilatation, Myopathy, Restrictive ventilatory defect, Abnormal circulating crea... |
ORPHA:369840 |
Congenital Fiber-Type Disproportion Myopathy |
|
Polyhydramnios, Flexion contracture, Knee flexion contracture, Aspiration pneumonia, Foot dorsifl... |
ORPHA:2020 |
Cryptococcosis |
|
Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Pleural effusion, Co... |
ORPHA:1546 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Increased variability in muscle fiber diameter, Stridor, Failure to thrive |
OMIM:615595 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Optic nerve hypoplasia, Cryptorchidism, Dilated cardiomyopathy, Mitral... |
ORPHA:261250 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Acute rhabdomyolysis, Cardiac arrest, Elevated circulating creatine kinase concentration, Elevate... |
OMIM:616878 |
Hemochromatosis, Type 2B |
|
Congestive heart failure, Elevated transferrin saturation, Increased circulating ferritin concent... |
OMIM:613313 |
Greig Cephalopolysyndactyly Syndrome |
|
Abnormal muscle fiber morphology, Cryptorchidism, Abnormal heart morphology, Camptodactyly of toe... |
OMIM:175700 |
Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... |
ORPHA:34217 |
Hemochromatosis, Type 4 |
|
Elevated transferrin saturation, Cardiomyopathy, Arrhythmia, Increased circulating ferritin conce... |
OMIM:606069 |
Hypophosphatasia, Infantile |
|
Stillbirth, Failure to thrive, Apnea |
OMIM:241500 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Pneumonia, Edema, Respiratory tract infection, Dyspnea, Myocarditis, Hyperkalemia, ... |
ORPHA:544482 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Papilledema, Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral val... |
ORPHA:371428 |
Hec Syndrome |
|
Polyhydramnios, Vaginal hydrocele, Respiratory insufficiency, Cardiomyopathy, Endocardial fibroel... |
ORPHA:2119 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cardiomyopathy, Arrhythmia, Hypertension, Hyperuricemia |
ORPHA:3222 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Apnea, Optic nerve dysplasia, Joint contracture of the hand, Camptodactyly, Failure to thrive |
OMIM:214110 |
Boucher-Neuhauser Syndrome |
|
Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Distal amyotrophy, Abnormal upp... |
OMIM:215470 |
Senior-Loken Syndrome |
|
Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis, Cataract |
ORPHA:3156 |
3-Methylglutaconic Aciduria, Type Viii |
|
Apnea, Tremor, Cerebral atrophy, Hypopnea, Respiratory failure, Dystonia, Neonatal death, Respira... |
OMIM:617248 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Small for gestational age, Cardiomegaly, Tachypnea, Hypertension, Pulmonary arterial hypertension |
OMIM:613320 |
Acute Lung Injury |
|
Shock, Respiratory distress, Pneumonia, Elevated circulating C-reactive protein concentration, Di... |
ORPHA:178320 |
American Trypanosomiasis |
|
Aganglionic megacolon, Edema, Periorbital edema, Myocarditis, Congestive heart failure, Dyspnea, ... |
ORPHA:3386 |
Laryngeal Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Chronic fatigue, Weight loss |
ORPHA:100083 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Failure to thrive, Dilated cardiomyopathy, Pulmonary fibrosis |
OMIM:613989 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Edema, Dyspnea, Dilated cardiomyopathy, Pneumothorax, Abnormal b... |
ORPHA:79404 |
Perry Syndrome |
|
Tremor, Central hypoventilation, Weight loss |
ORPHA:178509 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Optic disc pallor, Apnea, Ataxia, Optic neuropathy, ... |
OMIM:252010 |
Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... |
OMIM:123320 |
Yuan-Harel-Lupski Syndrome |
|
Decreased nerve conduction velocity, Failure to thrive, Distal sensory impairment, Gait ataxia |
OMIM:616652 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki... |
ORPHA:363654 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Skeletal muscle atrophy... |
OMIM:211530 |
Mucolipidosis Type Ii |
|
Aortic regurgitation, Hip contracture, Respiratory failure requiring assisted ventilation, Abnorm... |
ORPHA:576 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Resting tremor, Facial palsy, Parkinsonism, Rigidity, Ragged-red muscle ... |
OMIM:157640 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Nonimmune hydrops fetalis, Elevated circulating alpha-fetoprotein concentration, Conjugated hyper... |
OMIM:617049 |
Hermansky-Pudlak Syndrome 10 |
|
Dystonia, Apnea, Cerebral atrophy, Albinism |
OMIM:617050 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Tempi Syndrome |
|
Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Hypoxemia, Abnormality of... |
ORPHA:284227 |
Myotonic Dystrophy 2 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio... |
OMIM:602668 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Paroxysmal dystonia, Sudden episodic apnea, Dystonia, Lower limb amyotrophy, Intention tremor |
ORPHA:466722 |
Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, Cough, Pulmonary arterial hyperte... |
ORPHA:1164 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Cataract, Hypospadias |
ORPHA:1381 |
Gaucher Disease, Type Ii |
|
Apnea, Cerebral atrophy, Stridor, Cough, Failure to thrive, Recurrent aspiration pneumonia |
OMIM:230900 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Corneal opacity, Hematuria, Posterior embryotoxon, Iris coloboma |
ORPHA:1473 |
Sweet Syndrome |
|
Small vessel vasculitis, Myositis, Dilated cardiomyopathy, Elevated circulating C-reactive protei... |
ORPHA:3243 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Optic atrophy, Cerebral at... |
OMIM:617710 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Skeletal muscle atrophy, Recurrent respiratory infections, Asthma, Contractures of the large join... |
OMIM:616716 |
Auriculocondylar Syndrome 1 |
|
Apnea |
OMIM:602483 |
Coach Syndrome 2 |
|
Apneic episodes in infancy |
OMIM:619111 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Hyperkalemia, Hy... |
OMIM:145600 |
Refsum Disease |
|
Heart block, Skeletal muscle atrophy, Respiratory insufficiency, Cardiomyopathy |
ORPHA:773 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Optic nerve hypoplasia, R... |
ORPHA:370959 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... |
ORPHA:1880 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Cryptorchidism, Dilated cardiomyopathy, Truncal obesity, Abnormal circulating lipid concentration... |
OMIM:616541 |
Cronkhite-Canada Syndrome |
|
Fatigue, Cachexia, Abdominal pain |
ORPHA:2930 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Skeletal muscle atrophy, Limb muscle weakness, Paralysis |
OMIM:612300 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... |
ORPHA:99827 |
Legionnaires Disease |
|
Hyponatremia, Pericarditis, Abnormal pleura morphology, Myocarditis, Abnormal lung morphology, Re... |
ORPHA:549 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Flexion contracture, Cachexia, Weight loss |
ORPHA:1979 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Apnea |
ORPHA:1129 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Global brain atrophy |
OMIM:619132 |
Undifferentiated Pleomorphic Sarcoma |
|
Fatigue, Weight loss |
ORPHA:2023 |
Postpoliomyelitis Syndrome |
|
Hypoventilation, Respiratory insufficiency, Skeletal muscle atrophy |
ORPHA:2942 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Cerebellar atrophy, Skeletal muscle atrophy, Pericardial effusion, Optic atrophy, Cardiomyopathy |
OMIM:620089 |
Tonne-Kalscheuer Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Abnormal heart morphology, Pulmonary hypoplasia,... |
OMIM:300978 |
Kikuchi-Fujimoto Disease |
|
Palpebral edema, Elevated circulating C-reactive protein concentration, Myocarditis, Vasculitis, ... |
ORPHA:50918 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Opisthotonus, Decreased body weight, Neonatal death, Arthrogryposis ... |
OMIM:608013 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Cachexia |
ORPHA:93941 |
Non-Functioning Paraganglioma |
|
Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Cranial nerve compression, Weight l... |
ORPHA:94080 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Neurodegenera... |
OMIM:300894 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Failure to thrive in infancy, Wheezing, Hyperkalemia, Dehydration, Weight loss, Hyp... |
ORPHA:171876 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Spastic ataxia, Cerebral palsy, Spastic tetraparesis, Paraparesis, Failure to thrive |
OMIM:620358 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Skeletal muscle atrophy, Myositis, Recurrent respiratory infections, Elevated circulating C-react... |
OMIM:615934 |
Hurler-Scheie Syndrome |
|
Abnormal nerve conduction velocity, Cardiomyopathy, Rhinitis, Abnormal heart valve morphology |
ORPHA:93476 |
Orofaciodigital Syndrome Xvi |
|
Apnea, Ataxia |
OMIM:617563 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Dyspnea, Abnormal heart morphology, Palpitations, Hyperalaninemia, Hypertrophic cardiomyopathy, F... |
OMIM:618250 |
Variegate Porphyria |
|
Paralysis |
OMIM:176200 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Myopathy, Periodic paralysis |
OMIM:170400 |
Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Hypertriglyceridemia, Spontaneous pneumothorax, Hypercholesterolemia, Sm... |
OMIM:606721 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney |
OMIM:608022 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Apnea, Large for gestational age |
ORPHA:79644 |
Mucopolysaccharidosis Type 1 |
|
Sinusitis, Apnea, Low anterior hairline, Optic atrophy, Abnormal tendon morphology, Paresthesia, ... |
ORPHA:579 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Scapular winging, Decreased compound muscle action potential amplitude, Small thenar eminence, Di... |
OMIM:620080 |
Dermatomyositis |
|
Recurrent respiratory infections, Pericarditis, Telangiectasia of the skin, Myocardial infarction... |
ORPHA:221 |
Lymphangiectasia, Pulmonary, Congenital |
|
Recurrent respiratory infections, Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Ede... |
OMIM:265300 |
Rheumatoid Arthritis |
|
Elevated circulating C-reactive protein concentration, Vasculitis, Weight loss, Joint swelling, D... |
OMIM:180300 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Hydrops fetalis, Macroglo... |
OMIM:617022 |
Ring Chromosome 22 Syndrome |
|
Azoospermia, Pleural effusion, Edema, Lymphedema |
ORPHA:1446 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Polyhydramnios, Congenital diaphragmatic hernia, Flexion contracture, Abnormal lung lobation, Abn... |
OMIM:263210 |
Pyruvate Dehydrogenase Deficiency |
|
Ataxia, Tremor, Dyspnea, Tachypnea, Choreoathetosis, Dystonia |
ORPHA:765 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Gmppb-Related Limb-Girdle Muscular Dystrophy R19 |
|
Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Dila... |
ORPHA:363623 |
Neuroendocrine Tumor Of Stomach |
|
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Hem... |
ORPHA:100075 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Cachexia |
ORPHA:1438 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Ascites, Weight loss |
ORPHA:2198 |
Giant Cell Arteritis |
|
Pericarditis, Epistaxis, Sudden cardiac death, Abnormal pleura morphology, Recurrent pharyngitis,... |
ORPHA:397 |
Meige Disease |
|
Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, Lymphedema, Peri... |
ORPHA:90186 |
Sinus Node Disease And Myopia |
|
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin |
OMIM:182190 |
Analbuminemia |
|
Edema, Patent ductus arteriosus, Elevated circulating transferrin concentration, Increased LDL ch... |
OMIM:616000 |
Fryns Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Polyhydramnios, Large for gestational age, Cryp... |
OMIM:229850 |
Cataract 39, Multiple Types |
|
Lamellar cataract, Anterior polar cataract, Developmental cataract |
OMIM:615188 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Neonatal death, Hypoventilation, Breathing dysregulation |
OMIM:618232 |
Marburg Hemorrhagic Fever |
|
Shock, Pericarditis, Tachycardia, Elevated circulating creatine kinase concentration, Hyperamylas... |
ORPHA:99826 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Hand muscle atrophy, Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Decre... |
OMIM:606071 |
Pseudo-Torch Syndrome 3 |
|
Apnea, Respiratory insufficiency |
OMIM:618886 |
Serotonin Syndrome |
|
Tachycardia, Rhabdomyolysis, Tachypnea, Hypertension, Hypotension, Abnormality of the autonomic n... |
ORPHA:43116 |
Atrial Fibrillation, Familial, 11 |
|
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... |
OMIM:614049 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, Focal segmental glomerulosclerosis, ... |
OMIM:617303 |
Alveolar Echinococcosis |
|
Pulmonary cyst, Abnormal pericardium morphology, Portal hypertension, Dyspnea, Pedal edema, Abnor... |
ORPHA:284 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Decreased motor nerve conduction velocity, Ataxia, Optic atrophy, EEG with focal epileptiform dis... |
ORPHA:1187 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Coccidioidomycosis |
|
Respiratory distress, Pericarditis, Pneumonia, Vasculitis, Vasospasm, Cerebral ischemia, Pleural ... |
ORPHA:228123 |
Xeroderma Pigmentosum, Complementation Group B |
|
Decreased nerve conduction velocity, Optic atrophy, Ataxia, Cerebellar atrophy |
OMIM:610651 |
Hyperkalemic Periodic Paralysis |
|
Skeletal muscle atrophy, Periodic hyperkalemic paralysis, Cerebral palsy, Flexion contracture, Sk... |
ORPHA:682 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Cachexia |
ORPHA:2774 |
Emanuel Syndrome |
|
Recurrent respiratory infections, Multiple joint contractures, Truncus arteriosus, Ventricular se... |
ORPHA:96170 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Agenesis of pulmonary... |
OMIM:601186 |
Developmental And Epileptic Encephalopathy 82 |
|
Spastic paraparesis, Spastic tetraplegia, Cerebral atrophy, Decreased body weight |
OMIM:618721 |
Angioedema, Hereditary, 1 |
|
Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration, Abdominal pain |
OMIM:106100 |
Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Obesity |
OMIM:257500 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Skeletal muscle atrophy, Sc... |
ORPHA:98915 |
Hennekam Syndrome |
|
Recurrent respiratory infections, Camptodactyly of finger, Lymphedema, Pericardial effusion, Pulm... |
ORPHA:2136 |
Fusariosis |
|
Myositis, Sinusitis, Lung abscess, Pneumonia, Productive cough, Hypersensitivity pneumonitis, Bro... |
ORPHA:228119 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Weakness of facial musculature, Apnea, Respiratory insufficiency, Knee flexion contracture |
OMIM:617239 |
Cystic Echinococcosis |
|
Multiple pulmonary cysts, Pulmonary cyst, Abnormality of the testis size, Asthma, Weight loss, Ab... |
ORPHA:400 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Neonatal respiratory distress, Elevated circulating creatine kinase concentration, Elevated circu... |
ORPHA:157 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Abnormal muscle fiber protein expression |
ORPHA:330054 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypertension, Congenital diaphragmatic hernia |
OMIM:166300 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney |
OMIM:615415 |
Heart Block, Congenital |
|
Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... |
OMIM:234700 |
Genitopatellar Syndrome |
|
Sparse scalp hair, Hip contracture, Apnea, Knee flexion contracture, Fine hair, Arthrogryposis mu... |
ORPHA:85201 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate morphology, Hypo... |
OMIM:620294 |
Ohdo Syndrome, Sbbys Variant |
|
Cryptorchidism, Dilated cardiomyopathy |
OMIM:603736 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Cryptor... |
ORPHA:3427 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Warburg Micro Syndrome 4 |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Decreased muscle mass, Flexion con... |
OMIM:615663 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Abnormal skeletal muscle morphology, Str... |
ORPHA:142 |
Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
Neutral Lipid Storage Myopathy |
|
Hypertriglyceridemia, Hand muscle weakness, Fatty replacement of skeletal muscle, Congestive hear... |
ORPHA:98908 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Progressive gait ataxia, Optic atrophy, Gait ataxia |
ORPHA:309256 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Right ventricular dilata... |
OMIM:619705 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Cardiac arrest, Dyspnea, Myocarditis, Angioedema, Weight loss, Interstitial pneumonitis, Cough |
ORPHA:139402 |
Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Elevated circulating creatine kinase concentration,... |
OMIM:607426 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Reduced vital capacity, Cryptorchidism, Flexion contracture, Respiratory insufficiency, Arthrogry... |
ORPHA:178148 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Cerebellar atrophy, Small for gestational age, Apnea, Ataxia, Sparse hair, Hyperventilation |
OMIM:617799 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Silver-Russell Syndrome |
|
Decreased muscle mass, Failure to thrive in infancy, Cachexia, Obesity, Arthralgia |
ORPHA:813 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Brain atrophy, Muscle fi... |
OMIM:620240 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
Oligomeganephronia |
|
Pulmonary venous occlusion, Small for gestational age, Congenital diaphragmatic hernia, Secundum ... |
ORPHA:2260 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Restrictive ventilato... |
ORPHA:663 |
Focal Myositis |
|
Myositis, Myalgia, Weight loss |
ORPHA:48918 |
Mucopolysaccharidosis Type 3 |
|
Recurrent sinopulmonary infections, Cardiomegaly, Respiratory tract infection, Flexion contractur... |
ORPHA:581 |
Joubert Syndrome With Hepatic Defect |
|
Apnea, Ataxia, Highly arched eyebrow, Tremor, Optic disc coloboma, Abnormal pattern of respiration |
ORPHA:1454 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
Orofaciodigital Syndrome Type 6 |
|
Apnea, Episodic tachypnea, Highly arched eyebrow, Ataxia, Tremor, Failure to thrive |
ORPHA:2754 |
Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
Isolated Aniridia |
|
Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
Choreoacanthocytosis |
|
Caudate atrophy, Elevated circulating creatine kinase concentration, Peroneal muscle atrophy, Dil... |
ORPHA:2388 |
Colchicine Poisoning |
|
Respiratory distress, Hyponatremia, Myocarditis, Congestive heart failure, Hypovolemia, Abnormal ... |
ORPHA:31824 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Portal hypertension, Elevated circulating C-reactive protein concentration, Raynaud phenomenon, V... |
OMIM:615688 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Paresthesia, Cachexia, Abdominal pain |
OMIM:175500 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Spasticity, Optic atrophy, Ataxia, Cachexia |
ORPHA:220295 |
Wolfram Syndrome |
|
Central apnea, Ataxia, Optic atrophy, Respiratory insufficiency, Myopathy, Abnormal autonomic ner... |
ORPHA:3463 |
Seckel Syndrome 9 |
|
Recurrent respiratory infections, Ventricular septal defect, Small for gestational age, Congenita... |
OMIM:616777 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Con... |
ORPHA:505248 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Cerebral atrophy, Right ventricular dilatation, Myopathy, Restrictive ventilatory defect, Limb-gi... |
ORPHA:369847 |
Liposarcoma |
|
Fatigue, Weight loss, Paresthesia, Abdominal pain |
ORPHA:69078 |
Eisenmenger Syndrome |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Ventricular tachycar... |
ORPHA:97214 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Cataract, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria |
ORPHA:251004 |
Prune1-Related Neurological Syndrome |
|
Cerebellar atrophy, Clonus, Spastic tetraparesis, Optic atrophy, Cerebral atrophy, Tongue fascicu... |
ORPHA:544469 |
Desmoplastic Small Round Cell Tumor |
|
Weight loss, Cachexia, Abdominal pain |
ORPHA:83469 |
15Q24 Microdeletion Syndrome |
|
Small for gestational age, Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Abnormal hea... |
ORPHA:94065 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
Felty Syndrome |
|
Recurrent respiratory infections, Pericarditis, Sinusitis, Recurrent pharyngitis, Recurrent pneum... |
ORPHA:47612 |
Noonan Syndrome 1 |
|
Ventricular septal defect, Failure to thrive in infancy, Lymphedema, Cryptorchidism, Patent ductu... |
OMIM:163950 |
Primary Myelofibrosis |
|
Fatigue, Flank pain, Constitutional symptom, Cachexia |
ORPHA:824 |
Gaucher Disease, Type Iii |
|
Spastic paraparesis, Ataxia, Myoclonus, Decreased body weight |
OMIM:231000 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, ... |
OMIM:616239 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Left ventri... |
ORPHA:251274 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Edema, Lymphedema, Optic atrophy, Chylothorax, Atrial septal defect, Pleural effusion |
ORPHA:2526 |
Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Elevated circulating... |
ORPHA:90060 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezin... |
ORPHA:79127 |
Glass Syndrome |
|
Facial hypotonia, Apnea, Long eyelashes, Camptodactyly, Sparse hair |
OMIM:612313 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Sudden cardiac death, Myocardial i... |
ORPHA:36426 |
Paget Disease Of Bone 2, Early-Onset |
|
Paraparesis, Bone pain, Tetraparesis |
OMIM:602080 |
Joubert Syndrome 1 |
|
Central apnea, Optic disc pallor, Ataxia, Episodic tachypnea, Highly arched eyebrow, Optic disc c... |
OMIM:213300 |
Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Edema, Right ventricular failure, Arterial occlusion, Weight loss, Palpitatio... |
ORPHA:100078 |
Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Impaired vibratory sensation, Skeletal muscle atrophy, Speech apraxia, Babinski sign, Slurred spe... |
ORPHA:101000 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cerebellar atrophy, Cardiomegaly, Congestive heart failure, Optic atrophy, Cardiomyopathy, Limb m... |
OMIM:619259 |
Pagod Syndrome |
|
Sudden cardiac death, Spina bifida, Situs inversus totalis, Congenital diaphragmatic hernia, Opti... |
ORPHA:991 |
Foix-Alajouanine Syndrome |
|
Distal lower limb amyotrophy, Back pain, Somatic sensory dysfunction, Low back pain, Urinary inco... |
ORPHA:79093 |
Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Parkinsonism, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia, Deposits immunoreactive... |
ORPHA:1020 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Congenital diaphragmatic hernia, Emphysema, Bradycardia, Pulmonary artery aneurysm, Pulmonary art... |
OMIM:614437 |
Joubert Syndrome 2 |
|
Central apnea, Ataxia, Episodic tachypnea, Optic disc coloboma, Failure to thrive, Neonatal breat... |
OMIM:608091 |
Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
Ovarian Fibroma |
|
Pleural effusion, Ascites |
ORPHA:314473 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Dyspnea, Elevated circulating creatinine concentration, De... |
ORPHA:230 |
Rhabdoid Tumor |
|
Hypercalcemia, Respiratory insufficiency, Weight loss, Hypertension, Internal hemorrhage |
ORPHA:69077 |
Lyme Disease |
|
Joint swelling, Arrhythmia, Atrioventricular block |
ORPHA:91546 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
Schwartz-Jampel Syndrome |
|
Abnormal eyebrow morphology, Hip contracture, Skeletal muscle atrophy, Apnea, Shoulder flexion co... |
ORPHA:800 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Cataract, Band keratopathy, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasti... |
OMIM:604278 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Somatic sensory dysfunction, Thick hair, Tremor, Increased variability in musc... |
ORPHA:502423 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Atrioventricular block, Cardiorespiratory arrest, Respiratory insufficiency, Arrhythmia |
ORPHA:93317 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Skeletal muscle atrophy, Abnormal peripheral nerve morphology by anatomical site, Abnormal periph... |
ORPHA:168563 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Classic Hodgkin Lymphoma |
|
Fatigue, Ataxia, Bone pain, Weight loss, Chest pain |
ORPHA:391 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Apnea, Supernumerary nipple, Tachypnea, Abnormal optic disc morphology, Failure to thrive, Recurr... |
ORPHA:397715 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia |
OMIM:226735 |
Cooper-Jabs Syndrome |
|
Respiratory insufficiency, Ventricular septal defect, Camptodactyly of finger, Congenital diaphra... |
ORPHA:1488 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Enlarged kidney, ... |
OMIM:232200 |
Chediak-Higashi Syndrome |
|
Decreased nerve conduction velocity, Ataxia, Foot dorsiflexor weakness, Neurodegeneration |
OMIM:214500 |
Meacham Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Cryptorchidis... |
ORPHA:3097 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Lens subluxation |
OMIM:614292 |
Lethal Congenital Contracture Syndrome 1 |
|
Skeletal muscle atrophy, Hypoplasia of the musculature, Paucity of anterior horn motor neurons, N... |
OMIM:253310 |
Aniridia 3 |
|
Aniridia, Cataract |
OMIM:617142 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Polyhydramnios, Cardiomyopathy, Respiratory failure, Myopathy, Cerebral cortical atrophy |
OMIM:614922 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Raynaud phenomenon, Congestive ... |
ORPHA:91139 |
Familial Cervical Artery Dissection |
|
Facial palsy, Paralysis |
ORPHA:36382 |
Stuve-Wiedemann Syndrome 1 |
|
Apnea, Impaired pain sensation, Elbow flexion contracture, Respiratory insufficiency, Knee flexio... |
OMIM:601559 |
Xp21 Deletion Syndrome |
|
Calf muscle hypertrophy, Myopathy, Decreased muscle mass, Apneic episodes in infancy |
ORPHA:261476 |
Pancreatic And Cerebellar Agenesis |
|
Failure to thrive, Flexion contracture, Apnea, Optic nerve hypoplasia |
OMIM:609069 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Pericarditis, Recurrent intrapulmo... |
ORPHA:900 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... |
OMIM:272750 |
Slc39A8-Cdg |
|
Cerebellar atrophy, Sudden episodic apnea, Failure to thrive in infancy, Elbow flexion contractur... |
ORPHA:468699 |
Myasthenic Syndrome, Congenital, 19 |
|
Increased variability in muscle fiber diameter, Facial palsy, Respiratory insufficiency |
OMIM:616720 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Congenital diaphragmatic hernia, Obesity, Abnormal heart morphology, Syringomyelia,... |
ORPHA:261197 |
Peroxisome Biogenesis Disorder 10B |
|
Nephrocalcinosis, Neurogenic bladder, Cataract |
OMIM:617370 |
Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Bone pain, Optic atrophy, Optic nerve co... |
ORPHA:1328 |
Marshall-Smith Syndrome |
|
Failure to thrive, Brittle hair, Apnea, Optic nerve hypoplasia, Highly arched eyebrow, Synophrys,... |
OMIM:602535 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Methylmalonic acidemia, Cerebellar hemorrhage, Hyperammonemia, Dehydration,... |
OMIM:251000 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Cryptorchidism, Hyperkalemia, Testicular adrenal rest tumor, Weight loss, Azoosperm... |
ORPHA:361 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Tremor, Inability to walk, Dysmetria, Limb ataxia, Distal amyotrophy, Dysdiadochokinesis,... |
OMIM:617675 |
Aicardi-Goutieres Syndrome 7 |
|
Cerebellar atrophy, Pneumonia, Edema, Pericardial effusion, Hematemesis, Increased circulating fe... |
OMIM:615846 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Decreased nerve conduction velocity, Progressive gait ataxia, Optic atrophy |
ORPHA:309263 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Stage 5 chronic kidney disease, Ureteral atresia... |
OMIM:208540 |
Peroxisome Biogenesis Disorder 4B |
|
Decreased nerve conduction velocity, Optic atrophy, Ataxia |
OMIM:614863 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Focal segmental glomerulosclerosis, Enl... |
OMIM:232220 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Cataract, Stage 5 chr... |
OMIM:308940 |
Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Dysesthesia, Impaired propriocep... |
ORPHA:79138 |
Leopard Syndrome 1 |
|
Bundle branch block, Scapular winging, Complete atrioventricular canal defect, Cryptorchidism, Mi... |
OMIM:151100 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Elevated circulating creatine kinase concentration, Crackles, Rhabdomyolys... |
ORPHA:466650 |
Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Ovarian Fibrothecoma |
|
Pleural effusion, Ascites |
ORPHA:314478 |
Cockayne Syndrome |
|
Cerebellar atrophy, Skeletal muscle atrophy, Somatic sensory dysfunction, Optic disc pallor, Atax... |
ORPHA:191 |
Scrub Typhus |
|
Dyspnea, Myocarditis, Restrictive ventilatory defect, Hypotension, Cough |
ORPHA:83317 |
Friedreich Ataxia 2 |
|
Abnormal EKG, Abnormality of the dorsal column of the spinal cord, Congestive heart failure, Conc... |
OMIM:601992 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Hand muscle weakness, Tremor, Inability to walk, Vocal c... |
ORPHA:99956 |
Pituitary Adenoma 1, Multiple Types |
|
Left ventricular hypertrophy, Cardiomyopathy, Hypertension |
OMIM:102200 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... |
ORPHA:79345 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure |
ORPHA:53296 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hemiparesis, Paraparesis, Failure to thrive in infancy, Paraplegia |
ORPHA:79124 |
Cardiac-Urogenital Syndrome |
|
Unilateral cryptorchidism, Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextro... |
OMIM:618280 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Respiratory distress, Recurrent respiratory infections, Sudden cardi... |
ORPHA:537 |
Metachromatic Leukodystrophy, Adult Form |
|
Decreased nerve conduction velocity, Chorea, Optic atrophy, Progressive gait ataxia, Orthostatic ... |
ORPHA:309271 |
Coffin-Siris Syndrome 3 |
|
Macroglossia, Central diaphragmatic hernia, Abnormal heart morphology |
OMIM:614608 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Central apnea, Abnormal location of the eyebrow, Progressive flexion contractures, Ataxia, Widow'... |
ORPHA:522077 |
Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
Congenital Fibrinogen Deficiency |
|
Decreased testicular size, Tachycardia, Left ventricular hypertrophy, Internal hemorrhage, Right ... |
ORPHA:335 |
Joubert Syndrome 21 |
|
Apnea, Ataxia, Dyspnea, Optic atrophy, Megalopapilla, Respiratory failure, Chronic sinusitis |
OMIM:615636 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Crackles, Elevated circulating C-reactive protein c... |
ORPHA:1302 |
Lymphoid Interstitial Pneumonia |
|
Multiple pulmonary cysts, Crackles, Raynaud phenomenon, Dyspnea, Wheezing, Respiratory tract infe... |
ORPHA:79128 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Optic nerve hypoplasia, Overweight, Facial edema, Macroglossia, Bradycardia, Abnormal circulating... |
ORPHA:226307 |
Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Foot joint contracture, Cryptorchidism, Mitral valve prolapse, Abnorma... |
ORPHA:444072 |
Haddad Syndrome |
|
Aganglionic megacolon, Small for gestational age, Central hypoventilation, Breathing dysregulatio... |
ORPHA:99803 |
Coasy Protein-Associated Neurodegeneration |
|
Peripheral axonal neuropathy, Parkinsonism, Spastic paraparesis |
ORPHA:397725 |
Glycogen Storage Disease Vii |
|
Elevated circulating creatine kinase concentration, Increased muscle glycogen content, Hyperurice... |
OMIM:232800 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Pulmonary arterial hype... |
OMIM:616482 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Flexion contracture, Cardiomyopathy, Myopathy, Weakness of facial musculature, Failure to thrive |
OMIM:201470 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia |
ORPHA:2143 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hypertriglyceridemia, Obesity, Central nervous system degeneration, Cardiomyopathy, Myopathy, Sho... |
ORPHA:98907 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Respiratory f... |
ORPHA:158687 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Stridor, Macroglossia, Bradycardia, Hyperbilirubinemia |
OMIM:218700 |
Intellectual Disability-Strabismus Syndrome |
|
Failure to thrive, Congenital diaphragmatic hernia, Polyhydramnios, Cryptorchidism, Achilles tend... |
ORPHA:363528 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:2141 |
Agel Amyloidosis |
|
Facial palsy, Edema, Respiratory tract infection, Xerostomia, Cardiomyopathy, Blepharochalasis, A... |
ORPHA:85448 |
Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Polyhydramnios, Weight loss |
OMIM:620045 |
Cataract 41 |
|
Nuclear cataract |
OMIM:116400 |
Cataract 18 |
|
Nuclear cataract |
OMIM:610019 |
Castleman Disease |
|
Elevated circulating C-reactive protein concentration, Dyspnea, Weight loss, Anasarca, Cough, Res... |
ORPHA:160 |
X-Linked Intellectual Disability, Cabezas Type |
|
Tremor, Camptodactyly of finger, Cachexia, Obesity |
ORPHA:85293 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Neonatal respiratory distress, Elevated circulating creatine kinase concentration, Cardiomegaly, ... |
ORPHA:228308 |
1P36 Deletion Syndrome |
|
Failure to thrive, Abnormal heart valve morphology, Camptodactyly of finger, Cryptorchidism, Pate... |
ORPHA:1606 |
Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Pneumonia, Raynaud phenomenon, Punctate vasculitis skin lesions, Ele... |
ORPHA:247691 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Decreased muscle mass, Congestive heart failure, Recurrent pneumonia, Elbow flexion contracture, ... |
ORPHA:1900 |
Jansen-De Vries Syndrome |
|
Ventricular septal defect, Central diaphragmatic hernia, Bicuspid aortic valve |
OMIM:617450 |
Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
H Syndrome |
|
Abnormality of the kidney, Hepatosplenomegaly, Corneal arcus, Micropenis, Enlarged kidney |
ORPHA:168569 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Hypovolemia, Dehydration, Abnormal heart morphology, Weight loss, Lower-limb joint contracture, A... |
ORPHA:99885 |
Waardenburg Syndrome, Type 4A |
|
Aganglionic megacolon, Ataxia, Spastic paraparesis |
OMIM:277580 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Fatigue, Weight loss |
ORPHA:86893 |
Neuroblastoma, Susceptibility To, 1 |
|
Ataxia, Abdominal pain, Bone pain, Horner syndrome, Weight loss, Myoclonus, Failure to thrive, Ga... |
OMIM:256700 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ed... |
ORPHA:103910 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Cerebellar atrophy, Atrophy of the spinal cord, Progressive spastic paraparesis, Upper motor neur... |
ORPHA:329308 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy... |
OMIM:603830 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
Trisomy 1Q |
|
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital diaphragmatic hern... |
ORPHA:261344 |
Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Hypoventilation, Nemaline bodies, Elbow contracture, Brain atrophy |
OMIM:620275 |
Oculodentodigital Dysplasia |
|
Ataxia, Paraparesis, Joint contracture of the 5th finger, Tetraparesis, Spasticity |
OMIM:164200 |
D-Bifunctional Protein Deficiency |
|
Cerebellar atrophy, Decreased muscle mass, Decreased nerve conduction velocity, Corpus callosum a... |
OMIM:261515 |
Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia |
OMIM:619482 |
Athabaskan Brainstem Dysgenesis Syndrome |
|
Central hypoventilation |
OMIM:601536 |
Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
Aredyld Syndrome |
|
Cachexia |
ORPHA:1133 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Decreased HDL cholesterol concentration, Decreased circulating apoli... |
ORPHA:85450 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated circulating alpha-fetoprotein concentration, Right ventricular failure, Dyspnea, Heart m... |
ORPHA:100085 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central apnea, Hypopigmentation of hair, Small for gestational age, Impaired temperature sensatio... |
ORPHA:98754 |
Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Congenital diaphragmatic hernia |
ORPHA:261102 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Double outlet left ventricle, Failure to thrive, Ventricular septal defect,... |
ORPHA:2255 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Weight loss |
ORPHA:411593 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Optic disc pallor, Bicuspid aortic valve, Camptodactyly of finger, ... |
OMIM:607872 |
Arterial Tortuosity Syndrome |
|
Ventricular hypertrophy, Aortic regurgitation, Congenital diaphragmatic hernia, Pulmonary artery ... |
OMIM:208050 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Apnea, Camptodactyly of finger, Impaired pain sensation, Asthma, Flexion co... |
ORPHA:3206 |
Beta-Ketothiolase Deficiency |
|
Edema, Tachypnea, Hyperammonemia, Weight loss, Dehydration, Hypertension, Hyperuricemia, Hypotens... |
ORPHA:134 |
Gitelman Syndrome |
|
Prolonged QT interval, Rhabdomyolysis, Ventricular tachycardia, Hypokalemia, Increased circulatin... |
OMIM:263800 |
Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia |
OMIM:306950 |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Tachypnea |
OMIM:245050 |
Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Dyspnea, Hypersensitivity pneumonitis, Abnormality on pulmona... |
ORPHA:133 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Decreased muscle mass, Hand tremor, Dysmetria, Truncal obesity, Flexion contracture of digit, Spa... |
ORPHA:3041 |
Native American Myopathy |
|
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Respiratory insufficiency, Co... |
ORPHA:168572 |
Multiple Myeloma |
|
Hypercalcemia, Spinal cord compression, Elevated circulating creatinine concentration, Weight los... |
ORPHA:29073 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Abnormal circulating protein concentration, Pneumonia, Elevated circulating ... |
ORPHA:48435 |
Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ... |
OMIM:309801 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Central apnea, Hypopigmentation of hair, Small for gestational age, Impaired temperature sensatio... |
ORPHA:98793 |
Obesity Due To Sim1 Deficiency |
|
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology,... |
ORPHA:369873 |
Nipah Virus Disease |
|
Respiratory distress, Recurrent pharyngitis, Hypotension, Cough |
ORPHA:99825 |
Sheehan Syndrome |
|
Hyponatremia, Orthostatic hypotension, Obesity, Palpitations, Bradycardia |
ORPHA:91355 |
Wolman Disease |
|
Cachexia |
ORPHA:75233 |
Cholera |
|
Hyponatremia, Tachycardia, Tachypnea, Abnormal blood ion concentration, Dehydration, Hypovolemic ... |
ORPHA:173 |
Xfe Progeroid Syndrome |
|
Poor coordination, Failure to thrive, Optic atrophy, Cachexia |
OMIM:610965 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Pleural effusion, Recurrent pneumonia, Pulmonary fibrosis |
OMIM:618935 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Central apnea, Hypopigmentation of hair, Small for gestational age, Impaired temperature sensatio... |
ORPHA:177904 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Tachypnea, Hypertension, Atrial septal defect, Pulmonar... |
OMIM:613834 |
Shprintzen-Goldberg Syndrome |
|
Failure to thrive, Aplasia/Hypoplasia of the abdominal wall musculature, Apnea, Camptodactyly of ... |
ORPHA:2462 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Central apnea, Hypopigmentation of hair, Small for gestational age, Impaired temperature sensatio... |
ORPHA:177901 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Cataract, Astigmatism, Nephroblastoma, Bifid ure... |
ORPHA:500095 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Ventricular septal defect, Repeated pneumothoraces, Congenital diaphragmatic hernia, Cryptorchidi... |
OMIM:617602 |
Tyrosinemia, Type I |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Glomer... |
OMIM:276700 |
Eosinophilic Gastroenteritis |
|
Allergic rhinitis, Elevated circulating C-reactive protein concentration, Edema, Asthma, Weight l... |
ORPHA:2070 |
Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Abnormal circulating creatine concentration, Flexion contracture, We... |
ORPHA:440437 |
19Q13.11 Microdeletion Syndrome |
|
Failure to thrive, Cachexia |
ORPHA:217346 |
Osteopathia Striata With Cranial Sclerosis |
|
Failure to thrive, Apnea, Facial palsy, Spina bifida occulta, Camptodactyly, Tracheomalacia, Join... |
OMIM:300373 |
Chronic Graft Versus Host Disease |
|
Dyspnea, Wheezing, Pneumothorax, Flexion contracture, Bronchiectasis, Xerostomia, Weight loss, Br... |
ORPHA:99921 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
Cutaneous Mastocytoma |
|
Telangiectasia of the skin, Dyspnea, Angioedema, Hypotension, Peau d'orange, Telangiectasia macul... |
ORPHA:79455 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Hypox... |
ORPHA:2140 |
Meier-Gorlin Syndrome 7 |
|
Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Cryptorchidism, S... |
OMIM:617063 |
Rift Valley Fever |
|
Back pain, Paralysis, Paraparesis, Ocular pain, Hemiparesis, Decerebrate rigidity |
ORPHA:319251 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Cerebellar atrophy, Edema, Anasarca, Hypoalbuminemia, Pleural effusion |
OMIM:254900 |
Acquired Generalized Lipodystrophy |
|
Calf muscle pseudohypertrophy, Hypertriglyceridemia, Abnormal cardiovascular system physiology, C... |
ORPHA:79086 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia |
OMIM:613091 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Skeletal muscle atrophy, Cachexia |
ORPHA:1969 |
Cockayne Syndrome B |
|
Ataxia, Small for gestational age, Abnormal auditory evoked potentials, Abnormal peripheral myeli... |
OMIM:133540 |
Pfapa Syndrome |
|
Fatigue, Arthralgia, Weight loss, Abdominal pain |
ORPHA:42642 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Proximal amyotrophy, Mitral valve prolapse, Quadricuspid aortic valve, Muscle fiber splitting |
OMIM:606408 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Cranial nerve compression, Weight l... |
ORPHA:276621 |
Vitreoretinal Degeneration, Snowflake Type |
|
Cataract, Corneal guttata |
OMIM:193230 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hydrops fetalis, Weight loss, Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Hypertrophic c... |
OMIM:613673 |
Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
Tarp Syndrome |
|
Apnea, Abnormal hair pattern, Optic atrophy, Failure to thrive, Thick eyebrow |
ORPHA:2886 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
Noonan Syndrome 2 |
|
Mitral stenosis, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Increased nuchal tran... |
OMIM:605275 |
Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
Cataract 43 |
|
Posterior subcapsular cataract |
OMIM:616279 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... |
OMIM:130650 |
Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
Lynch Syndrome |
|
Gastrointestinal hemorrhage, Flexion contracture, Weight loss, Cardiac diverticulum |
ORPHA:144 |
Cockayne Syndrome A |
|
Cerebellar atrophy, Hip contracture, Ataxia, Abnormal peripheral myelination, Abnormal auditory e... |
OMIM:216400 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Skeletal muscle atrophy, Myopathy, Cachexia |
ORPHA:109 |
Mucopolysaccharidosis, Type Vi |
|
Tricuspid regurgitation, Pneumonia, Flexion contracture, Recurrent upper respiratory tract infect... |
OMIM:253200 |
Igg4-Related Kidney Disease |
|
Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urinary bladder inf... |
ORPHA:449395 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Cardiomyopathy, Nonimmune hydrops fetalis, Elevated circulating creatine kinase concentration |
OMIM:618839 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Increased variability in muscle fiber diameter, Respiratory failure, Muscular dystrophy, Elevated... |
OMIM:616538 |
Mercury Poisoning |
|
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Respiratory failure, Interstitial pneum... |
ORPHA:330021 |
Holoprosencephaly |
|
Hyponatremia, Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphrag... |
ORPHA:2162 |
Chronic Bilirubin Encephalopathy |
|
Central apnea, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Central apnea, Abnormal auditory evoked potentials |
ORPHA:529799 |
Sjogren-Larsson Syndrome |
|
Spasticity, Flexion contracture, Spastic paraparesis |
OMIM:270200 |
Collagenoma, Familial Cutaneous |
|
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Primary testicula... |
OMIM:115250 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Abnormality of the diaphragm, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Testicular a... |
OMIM:601163 |
Endocrine-Cerebroosteodysplasia |
|
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney |
OMIM:612651 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Opacification of the corneal str... |
OMIM:252500 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Congenital diaphragma... |
OMIM:600001 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Bacterial en... |
ORPHA:95459 |
Brugada Syndrome 7 |
|
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... |
OMIM:613120 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Dyspnea, Failure to thrive, Tachypnea |
OMIM:239200 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level, Hypotension, Failure ... |
OMIM:203400 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Palpitations, Abnormal T-wave, Dec... |
ORPHA:231625 |
Toxin-Mediated Infectious Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:230800 |
Von Hippel-Lindau Disease |
|
Papilledema, Myocardial infarction, Myocarditis, Macular edema, Upper limb muscle weakness, Cardi... |
ORPHA:892 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Nephrocalcinosis, Cataract |
OMIM:146200 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Hemiplegia, Cachexia |
ORPHA:3217 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Dehydration, Increased circulating renin lev... |
ORPHA:556030 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Mitral atresia, Congenital diaphragmatic hernia, Small for gestational age... |
ORPHA:1596 |
Thymic Carcinoma |
|
Fatigue, Chest pain, Diaphragmatic paralysis, Weight loss |
ORPHA:99868 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Camptodactyly of finger, Congenital diaphragmatic hernia, Cryptorchidism, Respiratory insufficien... |
ORPHA:2311 |
Hyperparathyroidism, Transient Neonatal |
|
Enlarged kidney, Unilateral renal agenesis |
OMIM:618188 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Cataract, Proteinuria, Absence of renal corticom... |
OMIM:120330 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Atrial septal defect, Optic atrophy, Right atrial enlargement |
OMIM:615219 |
Halperin-Birk Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Optic atrophy, Perimembranous ventricular s... |
OMIM:618651 |
13Q12.3 Microdeletion Syndrome |
|
Recurrent respiratory infections, Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Upper... |
ORPHA:412035 |
Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Camptodactyly of finger, Pneumonia, Optic atrophy, Respiratory insuff... |
ORPHA:2135 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Recurrent respiratory infections, Cardiomegaly, Atelectasis, Tachypnea, ... |
OMIM:618278 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Lymphedema, Weight loss, Intracranial hemorrhage, Respiratory f... |
ORPHA:3226 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Recurrent respiratory infections, Hyperkalemia, Dehydration, Hypotension, Failure t... |
OMIM:264350 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Patent foramen ovale, Coronary-pulmonary artery fistula, Congenital diaphragmatic hernia |
OMIM:619699 |
Paramyotonia Congenita Of Von Eulenburg |
|
Facial muscle hypertrophy, EMG: myopathic abnormalities, Periodic hypokalemic paresis |
ORPHA:684 |
Campomelic Dysplasia |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Short nail, Spina bifida, Contracture... |
OMIM:114290 |
Czeizel-Losonci Syndrome |
|
Posterolateral diaphragmatic hernia, Dextrocardia, Spina bifida, Aplasia of the left hemidiaphrag... |
ORPHA:2437 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Mucopolysaccharidosis Type 2 |
|
Papilledema, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Spinal cord co... |
ORPHA:580 |
Greig Cephalopolysyndactyly Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:380 |
Hereditary Late-Onset Parkinson Disease |
|
Weight loss, Gliosis, Cerebral cortical atrophy, Orthostatic hypotension due to autonomic dysfunc... |
ORPHA:411602 |
Diethylstilbestrol Syndrome |
|
Central apnea, Small for gestational age |
ORPHA:1916 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arterio... |
OMIM:618454 |
Trisomy 18 |
|
Cachexia, Hypertonia, Camptodactyly of finger, Congenital diaphragmatic hernia |
ORPHA:3380 |
Graves Disease, Susceptibility To, 1 |
|
Congestive heart failure, Weight loss |
OMIM:275000 |
Wilson Disease |
|
Back pain, Bone pain, Increased body weight, Weight loss, Clumsiness, Proximal muscle weakness in... |
ORPHA:905 |
Stiff-Person Syndrome |
|
Tachycardia, Proximal limb muscle stiffness, Hypertension, Asymmetric limb muscle stiffness, Axia... |
OMIM:184850 |
Autosomal Recessive Malignant Osteopetrosis |
|
Apnea, Abnormality of hair texture, Tremor, Chronic rhinitis, Pulmonary arterial hypertension, Op... |
ORPHA:667 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Tachypnea, Hyperventilation |
OMIM:253270 |
Relapsing Fever |
|
Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration, Elevated circulati... |
ORPHA:91547 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Incoordination, Ataxia, Arthrogryposis-like hand anomaly, Macroglossia, Spastic paraparesis, Camp... |
ORPHA:369891 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Cryptorchidism, Ventricular septal defect, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
OMIM:612530 |
Focal Dermal Hypoplasia |
|
Ventricular septal defect, Camptodactyly of finger, Diastasis recti, Congenital diaphragmatic her... |
ORPHA:2092 |
Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology, Orthostatic hypotension, Neurogenic bladder |
OMIM:263570 |
Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Truncal obesity, Recurrent upper respiratory tract infections, Congenital diaphra... |
ORPHA:284180 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Dyspnea, Weight loss, Cardiomyopathy, Pulmonary fibrosis |
ORPHA:79430 |
Zaki Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Congenital diaphragmatic hernia |
OMIM:619648 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Hepatomegaly, Ureteral hypoplasia, Abnormal renal artery morphology, H... |
ORPHA:79328 |
Hirschsprung Disease |
|
Weight loss, Aganglionic megacolon, Failure to thrive in infancy, Abdominal pain |
ORPHA:388 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tachycardia, Hypokalemia, Weight loss |
OMIM:613239 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Prolonged QT interval, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalc... |
ORPHA:94090 |
Genitopalatocardiac Syndrome |
|
Cryptorchidism, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia |
ORPHA:2075 |
Pentalogy Of Cantrell |
|
Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmatic hernia, Pulm... |
ORPHA:1335 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Bilateral ... |
OMIM:611812 |
White-Sutton Syndrome |
|
Facial hypotonia, Optic nerve hypoplasia, Congenital diaphragmatic hernia, Patent ductus arterios... |
OMIM:616364 |
Peripheral Primitive Neuroectodermal Tumor |
|
Torticollis, Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetoprotein concent... |
ORPHA:370348 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Congenital diaphragmatic hernia, Supravalvular aortic stenosis,... |
OMIM:219100 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Cerebellar atrophy, Congenital diaphragmatic hernia, Large for gestational age, Polyhydramnios, P... |
OMIM:614080 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prolonged QT interval, Scapular winging, Bidirectional ventricular ectopy, Hypokalemia, Syncope, ... |
OMIM:170390 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphr... |
OMIM:613309 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly ... |
ORPHA:217085 |
Reactive Arthritis |
|
Aortic regurgitation, Pericarditis, Abnormal pleura morphology, Respiratory insufficiency, Weight... |
ORPHA:29207 |
Fryns Syndrome |
|
Aganglionic megacolon, Congenital diaphragmatic hernia, Polyhydramnios, Cryptorchidism, Abnormal ... |
ORPHA:2059 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Joubert Syndrome 5 |
|
Central apnea, Ataxia, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:610188 |
Fetal Alcohol Syndrome |
|
Atrial septal defect, Congenital diaphragmatic hernia |
ORPHA:1915 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level, Hypotension, Failure ... |
OMIM:177735 |
Oromandibular Dystonia |
|
Torticollis, Weight loss, Blepharospasm, Hyperkinetic movements, Pain |
ORPHA:93958 |
Acrocallosal Syndrome |
|
Cryptorchidism, Congenital diaphragmatic hernia |
ORPHA:36 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Melena, Mi... |
ORPHA:99147 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Foot joint contracture, Dilated cardiomyopathy, Flexion contracture, Decreased serum zinc, Decrea... |
ORPHA:79408 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Weight loss, Hypotension, Ascites |
ORPHA:98850 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Papilledema, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly ... |
ORPHA:217093 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Opisthotonus, Weight loss, Spasticity, Frequent falls |
ORPHA:216866 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Cardiorespiratory arrest, Hypotensio... |
ORPHA:99828 |
Infant Botulism |
|
Hyponatremia, Cardiac arrest, Respiratory insufficiency due to muscle weakness, Dyspnea, Xerostom... |
ORPHA:178478 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Cranial nerve compression, Weight l... |
ORPHA:29072 |
Marfan Syndrome |
|
Pulmonary artery dilatation, Skeletal muscle atrophy, Mitral valve calcification, Spontaneous pne... |
ORPHA:558 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Dyspnea, Abnormal left ventricular function, Hypocalcemic seizures, Hyperp... |
ORPHA:36913 |
White-Sutton Syndrome |
|
Cerebellar atrophy, Facial hypotonia, Congenital diaphragmatic hernia, Optic atrophy, Obesity, Ab... |
ORPHA:468678 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Nephrocalcinosis, Enl... |
ORPHA:79259 |
Scheie Syndrome |
|
Abnormal nerve conduction velocity |
ORPHA:93474 |
Coloboma, Ocular, Autosomal Recessive |
|
Iris coloboma, Cataract, Lens subluxation |
OMIM:216820 |
Rat-Bite Fever |
|
Pericarditis, Myocarditis, Endocarditis, Tendonitis, Weight loss |
ORPHA:31205 |
Isolated Ectopia Lentis |
|
Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
Reticular Dysgenesis |
|
Recurrent respiratory infections, Failure to thrive, Dehydration, Weight loss |
ORPHA:33355 |
Microsporidiosis |
|
Myositis, Sinusitis, Pneumonia, Cachexia, Bronchitis, Myocarditis, Endocarditis, Weight loss, Deh... |
ORPHA:2552 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Weight loss, Peripheral edema, Hypoalbuminemia, Hypoproteinemia |
ORPHA:2494 |
Epidermal Nevus Syndrome |
|
Rhabdomyosarcoma, Atrophy of the spinal cord, Progressive spastic paraparesis, Babinski sign, Wea... |
ORPHA:35125 |
Kanzaki Disease |
|
Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy, Distal sensory impairment |
OMIM:609242 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Conjunctival telangiectasia, Congenital diaphragmatic hernia, Cutaneous telan... |
OMIM:615919 |
Proximal 16P11.2 Microduplication Syndrome |
|
Failure to thrive, Decreased body mass index, Congenital diaphragmatic hernia |
ORPHA:370079 |
Mast Cell Sarcoma |
|
Fatigue, Weight loss |
ORPHA:66661 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Cataract, Non-acidotic proximal tubulopathy,... |
ORPHA:1652 |
Autosomal Recessive Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Splenomegaly, Oliguria, Stage 5 chronic ... |
ORPHA:731 |
Lowry-Maclean Syndrome |
|
Bilateral cryptorchidism, Atrioventricular canal defect, Congenital diaphragmatic hernia |
ORPHA:2409 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Myocardial infarction, Sudden cardiac death, Optic neuropathy, Dyspnea, Tendon x... |
ORPHA:391665 |
Vacterl/Vater Association |
|
Polyhydramnios, Congenital diaphragmatic hernia, Cryptorchidism, Aplasia/Hypoplasia of the lungs,... |
ORPHA:887 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228302 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Vocal cord paralysis |
ORPHA:2375 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Cachexia, Paralysis, Spastic paraplegia, Limb ataxia, Hypertonia, Oculomotor apraxia |
ORPHA:2072 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Edema, Vasculitis, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:324964 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Optic neuropathy, Raynaud phenomenon, Arterial occlusion, Optic atrophy, Atriovent... |
OMIM:259900 |
Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
Nephroblastoma |
|
Neoplasm of the lung, Hypertension, Weight loss |
ORPHA:654 |
Hydroxykynureninuria |
|
Abnormal circulating tryptophan concentration, Tachycardia, Hypotension, Breathing dysregulation |
ORPHA:79155 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Enlarged kidney |
ORPHA:276280 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... |
ORPHA:729 |
Mosaic Variegated Aneuploidy Syndrome |
|
Apnea, Muscular dystrophy, Rhabdomyosarcoma |
ORPHA:1052 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology |
ORPHA:3068 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Failure to thrive in infancy, Cachexia |
ORPHA:37042 |
Pyomyositis |
|
Myositis, Testicular teratoma, Sudden cardiac death, Weight loss |
ORPHA:764 |
Meningococcal Meningitis |
|
Shock, Papilledema, Neonatal respiratory distress, Elevated circulating C-reactive protein concen... |
ORPHA:33475 |
Craniofrontonasal Dysplasia |
|
Camptodactyly of finger, Congenital diaphragmatic hernia |
ORPHA:1520 |
Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Macroglossia, Co... |
OMIM:613150 |
African Trypanosomiasis |
|
Abnormal EKG, Pericarditis, Papilledema, Myelopathy, Myocarditis, Congestive heart failure, Weigh... |
ORPHA:3385 |
Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Bundle branch block, Ventricular septal defect, Camptodactyly of finger, C... |
ORPHA:373 |
Schisis Association |
|
Small for gestational age, Spina bifida, Congenital diaphragmatic hernia |
ORPHA:63862 |
Acute Myelomonocytic Leukemia |
|
Dyspnea, Weight loss |
ORPHA:517 |
Pulmonary Hypertension, Primary, 4 |
|
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... |
OMIM:615344 |
Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Weight loss |
ORPHA:2221 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotensi... |
ORPHA:556037 |
Mosaic Trisomy 1 |
|
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital diaphragmatic hern... |
ORPHA:1692 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Impaired vibratory sensation, Resting tremor, Corpus callosum atrophy, Gait ataxia, Generalized a... |
OMIM:601162 |
Immunodeficiency 27A |
|
Abnormal bronchus physiology, Hypoalbuminemia, Pneumonia, Weight loss |
OMIM:209950 |
Thymoma |
|
Myositis, Dyspnea, Weight loss, Neoplasm of the lung, Neoplasia of the pleura, Cough |
ORPHA:99867 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Hypoventilation, Recurrent pneumonia, Elbow flexion contracture, Obesity, Optic ... |
OMIM:618493 |
Central Diabetes Insipidus |
|
Hyponatremia, Failure to thrive, Dehydration, Weight loss |
ORPHA:178029 |
Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Parkinsonism, Abnormal autonomic nervous system physiology, Weight loss |
OMIM:605543 |
Glycogen Storage Disease Xii |
|
Elevated circulating creatine kinase concentration, Myopathy, Hyperbilirubinemia, Increased varia... |
OMIM:611881 |
Rabin-Pappas Syndrome |
|
Hypoventilation, Failure to thrive in infancy, Optic nerve hypoplasia, Highly arched eyebrow, Obe... |
OMIM:620155 |
Primary Hyperoxaluria |
|
Optic disc pallor, Hyperoxaluria, Heart block, Raynaud phenomenon, Arterial occlusion, Optic atro... |
ORPHA:416 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Hepatomegaly, Cardiomegaly, Splenomegaly, Nephrolithiasis, Hypercalciuria, ... |
ORPHA:116 |
Erythrokeratodermia Variabilis |
|
Abnormal testis morphology, Weight loss |
ORPHA:317 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Hypoventilation, Optic atrophy, Long eyelashes, Cerebral atrophy |
OMIM:606056 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Weight loss, Hyperte... |
ORPHA:91347 |
Cebalid Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:618774 |
Nijmegen Breakage Syndrome |
|
Skeletal muscle atrophy, Cachexia, Rhabdomyosarcoma |
ORPHA:647 |
Stickler Syndrome |
|
Skeletal muscle atrophy, Cachexia, Hemiplegia/hemiparesis, Bone pain, Macroglossia, Arthralgia, S... |
ORPHA:828 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... |
ORPHA:99125 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Orthostatic hypotension, Hypercalcemia, Myocardial infarction, Hypovolemia, Hyperka... |
ORPHA:95409 |
Johanson-Blizzard Syndrome |
|
Ventricular septal defect, Small for gestational age, Portal hypertension, Increased VLDL cholest... |
OMIM:243800 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Astigmatism, Enlarged kidney, Enuresis nocturna |
OMIM:615873 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Ataxia, Foot joint contracture, Optic atrophy, Failure to th... |
ORPHA:90321 |
Adrenocortical Carcinoma |
|
Increased body weight, Weight loss, Hypertension, Hypokalemia, Palpitations, Lung adenocarcinoma |
ORPHA:1501 |
Semilobar Holoprosencephaly |
|
Central apnea, Flexion contracture, Aspiration pneumonia, Limb dystonia, Abnormality of the auton... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Central apnea, Flexion contracture, Aspiration pneumonia, Limb dystonia, Abnormality of the auton... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Flexion contracture, Aspiration pneumonia, Limb dystonia, Abnormality of the auton... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central apnea, Flexion contracture, Aspiration pneumonia, Limb dystonia, Abnormality of the auton... |
ORPHA:93924 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Apnea, Synophrys, Flexion contracture, Knee flexion contracture, Diaphragmatic eventration, Aspir... |
OMIM:619503 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia |
OMIM:261990 |
Donnai-Barrow Syndrome |
|
Diaphragmatic eventration, Ventricular septal defect, Congenital diaphragmatic hernia |
OMIM:222448 |
Yellow Fever |
|
Shock, Elevated circulating creatine kinase concentration, Supraventricular arrhythmia, Hematemes... |
ORPHA:99829 |
Congenital Disorder Of Deglycosylation 1 |
|
Pain insensitivity, Facial hypotonia, Chorea, Dysmetria, Intrinsic hand muscle atrophy, Athetosis... |
OMIM:615273 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Cachexia, Patent ductus arteriosus, Abnormal heart morphology, Melen... |
ORPHA:79076 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Hypertyrosinemia, Rhabdomyolysis, Ragged-red muscle fibers, Cerebral atrophy,... |
OMIM:124000 |
Unilateral Polymicrogyria |
|
Giant somatosensory evoked potentials, Apnea, Epistaxis |
ORPHA:268943 |
7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Tracheomalacia, Congenital diaphragmatic hernia, Cryptorchidism, Paten... |
ORPHA:96121 |
Rh Deficiency Syndrome |
|
Tachycardia, Tachypnea, Hypoxemia, Hyperbilirubinemia, Reduced haptoglobin level, Oligohydramnios |
ORPHA:71275 |
Pseudomyxoma Peritonei |
|
Ascites, Respiratory insufficiency, Weight loss |
ORPHA:26790 |
Granulomatous Disease, Chronic, X-Linked |
|
Atelectasis, Recurrent pneumonia, Cough, Pleural effusion, Ascites |
OMIM:306400 |
Wilson Disease |
|
Decreased nerve conduction velocity, Hypoesthesia, Limb muscle weakness |
OMIM:277900 |
Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Pneumonia, Elevated circulating alpha-fetoprotein concentration, Bro... |
ORPHA:420741 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Diffuse alveolar hemorrhage, Retinal hemorrhage, Localized pulmonary hemorrhage, Respi... |
OMIM:608710 |
Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral palsy, Ataxia, Abnormal central motor function, Hypertonia, Spastic paraparesis, Spasticity |
ORPHA:760 |
Chromosome 15Q25 Deletion Syndrome |
|
Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Cryptorchidism, Coronar... |
OMIM:614294 |
Hamamy Syndrome |
|
Prolonged QRS complex, Complete atrioventricular canal defect, Cryptorchidism, Mitral regurgitati... |
OMIM:611174 |
Metachromatic Leukodystrophy |
|
Decreased nerve conduction velocity, Ataxia |
ORPHA:512 |
Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
Aymé-Gripp Syndrome |
|
Pericarditis, Congenital diaphragmatic hernia, Pericardial effusion, Cryptorchidism, Patent ductu... |
ORPHA:1272 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level, Hypotension |
OMIM:620125 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the lungs, Cryptorchidism, Abnormal lung lobation, Congenital diaphragmatic... |
ORPHA:2063 |
Recessive Mitochondrial Ataxia Syndrome |
|
Increased serum pyruvate, ST segment elevation |
ORPHA:94125 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Tongue edema, Pharyngeal edema, Intestinal edema, Edema of the dorsum of ha... |
ORPHA:100050 |
Foodborne Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:228371 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Impaired vibratory sensation, Tachypnea, Progressive cerebellar ataxia, Failure to thrive, Cerebr... |
ORPHA:415 |
Alexander Disease |
|
Facial palsy, Sudden cardiac death, Respiratory insufficiency, Hypertension, Abnormal autonomic n... |
ORPHA:58 |
Meacham Syndrome |
|
Enlarged kidney, Horseshoe kidney |
OMIM:608978 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Morgagni diaphragmatic hernia, Periorbital edema, Atelectasi... |
OMIM:613177 |
Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:49041 |
Hypermanganesemia With Dystonia 1 |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality of extrap... |
OMIM:613280 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ... |
OMIM:245600 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Prolonged QT interval, Dyspnea, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany,... |
ORPHA:94089 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Optic disc pallor, Exaggerated startle response, Apnea, Breathing dysregulation,... |
ORPHA:438213 |
Inflammatory Bowel Disease 11 |
|
Weight loss, Abdominal pain |
OMIM:191390 |
Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Intracranial hemorrhage, Abnormal mitral valve morphology, Raynaud phenome... |
ORPHA:740 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Small for gestational age, Portal hypertension, Tachypnea, Abnormal pulmonary interstitial morpho... |
OMIM:613658 |
Thoracoabdominal Syndrome |
|
Congenital diaphragmatic hernia, Patent ductus arteriosus, Pulmonary hypoplasia, Transposition of... |
OMIM:313850 |
Opitz Gbbb Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Tracheomalacia, Cryptorchidism, Paten... |
ORPHA:2745 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Spastic tetraparesis, Babinski sign, Ragged-red muscle fibers, Bradykinesia, Dystonia |
OMIM:614924 |
Pseudohypoaldosteronism Type 2 |
|
Periodic paralysis |
ORPHA:757 |
Glioblastoma |
|
Paralysis |
ORPHA:360 |
Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... |
OMIM:609620 |
Mycophenolate Mofetil Embryopathy |
|
Tracheomalacia, Ventricular septal defect, Hydrops fetalis, Congenital diaphragmatic hernia |
ORPHA:268249 |
Benign Recurrent Intrahepatic Cholestasis |
|
Fatigue, Weight loss, Abdominal pain |
ORPHA:65682 |
Acute Promyelocytic Leukemia |
|
Epistaxis, Productive cough, Diffuse alveolar hemorrhage, Weight loss, Exertional dyspnea |
ORPHA:520 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Peau d'orange, Wheezing, Hypotension |
ORPHA:79456 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Renal agenesis, Cardiomegaly, Horseshoe kidney, Enlarged kidney |
OMIM:306955 |
1Q41Q42 Microdeletion Syndrome |
|
Cryptorchidism, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:250999 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Hypercalcemia, Dehydration, Weight loss |
OMIM:143880 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Neurogenic bladder, Vocal cord paralysis, Myoclonus, Dystonia, Spasticity |
ORPHA:500144 |
Lysosomal Acid Lipase Deficiency |
|
Weight loss, Failure to thrive, Cachexia, Abdominal pain |
ORPHA:275761 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss, Abdominal pain |
OMIM:266600 |
Fanconi Anemia |
|
Aganglionic megacolon, Spina bifida, Cryptorchidism, Patent ductus arteriosus, Weight loss, Azoos... |
ORPHA:84 |
Hypotonia-Cystinuria Syndrome |
|
Ragged-red muscle fibers, Facial palsy |
OMIM:606407 |
Leishmaniasis |
|
Fatigue, Night sweats, Arthralgia, Weight loss |
ORPHA:507 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Abnormal lung morphology, Recurrent pneumonia, Weight loss, Hypocalcemia, Failure to t... |
ORPHA:47 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged kidney |
ORPHA:508 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Hypotension |
ORPHA:91354 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... |
OMIM:221900 |
Thakker-Donnai Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Congenital d... |
ORPHA:1780 |
Axial Mesodermal Dysplasia Spectrum |
|
Aplasia/Hypoplasia of the lungs, Cerebral cortical atrophy, Congenital diaphragmatic hernia, Olig... |
ORPHA:1834 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis |
OMIM:170500 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Spastic paraparesis |
OMIM:619338 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Neonatal asphyxia, Cryptorchidism, Hyperkalemia, Dehydration, Azoospermia, Increase... |
ORPHA:90791 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Crazy paving pattern, Crackles, Dyspnea, Intraalveola... |
ORPHA:747 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Prolonged QT interval, Optic nerve hypoplasia, Flexion contracture, Stridor, Camptodactyly, Pulmo... |
OMIM:620029 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Orthostatic hypotension, Hypercalcemia, Hyperkalemia, Weight loss, Hyperuricemia, H... |
ORPHA:199299 |
Diets-Jongmans Syndrome |
|
Ventricular septal defect, Polyhydramnios, Congenital diaphragmatic hernia, Cryptorchidism, Gliosis |
OMIM:618846 |
Wolf-Hirschhorn Syndrome |
|
Recurrent respiratory infections, Tethered cord, Abnormal heart valve morphology, Congenital diap... |
ORPHA:280 |
Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Congenital diaphragmatic hernia |
OMIM:606164 |
Split Cord Malformation |
|
Back pain, Low back pain, Urinary incontinence, Bowel incontinence, Paraparesis, Distal lower lim... |
ORPHA:573278 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Neonatal hyperb... |
ORPHA:3008 |
Orofaciodigital Syndrome Type 2 |
|
Tachypnea, Apnea, Thick hair |
ORPHA:2751 |
Neuroendocrine Neoplasm Of Appendix |
|
Tricuspid stenosis, Asthma, Heart murmur, Palpitations, Hypotension |
ORPHA:100079 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Spastic paraparesis, Small for gestational age, Decreased body weight |
ORPHA:391408 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Tachycardia, Weight loss, Syncope, Abnormal autonomic nervous system phy... |
ORPHA:71273 |
Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D... |
OMIM:157800 |
Malignant Peritoneal Mesothelioma |
|
Dyspnea, Ascites, Pedal edema, Weight loss |
ORPHA:168811 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Leiomyosarcoma, Hypertension, Arrhythmia, Ascites |
ORPHA:139411 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Polyhydramnios, Congenital diaphragmatic hernia, Hydrops fetalis, Pulmonary hypoplasia, Atrial se... |
OMIM:616546 |
Renal Tubular Dysgenesis |
|
Respiratory insufficiency, Pulmonary hypoplasia, Hypotension, Oligohydramnios |
OMIM:267430 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Congenital diaphragmatic hernia, Cryptorchidism, Respiratory insufficiency, Abnormal heart morpho... |
OMIM:617641 |
Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis |
OMIM:145260 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Scapular winging, Ragged-red muscle fibers, Generalized limb muscle atrophy |
OMIM:600462 |
Kaposi Sarcoma |
|
Lymphedema, Abnormal lung morphology, Weight loss |
ORPHA:33276 |
Autosomal Dominant Hypocalcemia |
|
Congestive heart failure, Optic atrophy, Hyperphosphatemia, Hypocalcemia, Hypotension, Hypomagnes... |
ORPHA:428 |
Tick-Borne Encephalitis |
|
Speech apraxia, Skeletal muscle atrophy, Incoordination, Facial palsy, Paralysis, Tremor, Hyperki... |
ORPHA:297 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia, Aganglionic megacolon |
ORPHA:2151 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Action tremor, Rigidity, Truncal ataxia, Bradykinesia, Poor fine motor coordination, Dysdiadochok... |
ORPHA:309854 |
Matthew-Wood Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Abnormal lung morphology, Pulmonary hypoplasia, ... |
ORPHA:2470 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
Multiple Sulfatase Deficiency |
|
Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:585 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Syncope, Hypotension, Weight loss |
ORPHA:98849 |
Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Hypovolemia, Increased circulating renin lev... |
ORPHA:427 |
Erythrocytosis, Familial, 2 |
|
Hypotension, Pulmonary arterial hypertension, Failure to thrive, Cerebral hemorrhage |
OMIM:263400 |
Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Prolonged QT interval, Spinal cord compression, Dyspnea, Obesity, Hypertension, Hyper... |
ORPHA:79443 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Prolonged QT interval, Dyspnea, Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemi... |
ORPHA:79444 |
Osteosarcoma |
|
Pain, Weight loss |
ORPHA:668 |
Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
Non-Syndromic Posterior Hypospadias |
|
Cryptorchidism, Small for gestational age, Congenital diaphragmatic hernia |
ORPHA:95706 |
Prader-Willi Syndrome |
|
Hypoventilation, Hypopigmentation of hair, Decreased muscle mass, Failure to thrive in infancy, I... |
OMIM:176270 |
Imerslund-Gräsbeck Syndrome |
|
Tachycardia, Failure to thrive, Weight loss |
ORPHA:35858 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea, Internal hemorrhage, Hypotension |
ORPHA:247257 |
Hurler Syndrome |
|
Abnormal nerve conduction velocity, Macroglossia, Camptodactyly of finger |
ORPHA:93473 |
Hypermobile Ehlers-Danlos Syndrome |
|
Apnea, Decreased nerve conduction velocity, Aplasia/Hypoplasia of the abdominal wall musculature,... |
ORPHA:285 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Unilateral cryptorchidism, Bilateral c... |
ORPHA:1772 |
Familial Thrombocytosis |
|
Transient ischemic attack, Weight loss, Syncope, Cerebral ischemia, Pulmonary arterial hypertension |
ORPHA:71493 |
Cap Polyposis |
|
Hematochezia, Weight loss |
ORPHA:160148 |
2Q37 Microdeletion Syndrome |
|
Tracheomalacia, Obesity, Congenital diaphragmatic hernia |
ORPHA:1001 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Neonatal respiratory distress, Facial hypotonia, Ventricular septal defect, Congenital diaphragma... |
OMIM:312870 |
Limb Body Wall Complex |
|
Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Spina bifida, Abnorm... |
ORPHA:2369 |
Secondary Short Bowel Syndrome |
|
Aganglionic megacolon, Low plasma citrulline, Abnormal blood ion concentration, Dehydration, Weig... |
ORPHA:95427 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Ascites, Portal hypertension, Weight loss |
ORPHA:131 |
Pde4D Haploinsufficiency Syndrome |
|
Cryptorchidism, Obesity, Hypotension |
ORPHA:439822 |
Pelizaeus-Merzbacher Disease In Female Carriers |
|
Hand apraxia, Babinski sign, Lower limb spasticity, Spastic paraparesis |
ORPHA:280229 |
Thymic Neuroendocrine Tumor |
|
Pancreatic islet cell adenoma, Weight loss, Chest pain, Neuroendocrine neoplasm, Carcinoid tumor |
ORPHA:97289 |
Kabuki Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Abnormal cardiac septum morphology, Fai... |
ORPHA:2322 |
Peritoneal Cystic Mesothelioma |
|
Weight loss, Abdominal pain |
ORPHA:168816 |
Mullegama-Klein-Martinez Syndrome |
|
Facial palsy, Congenital diaphragmatic hernia, Hypoplastic left heart, Apical muscular ventricula... |
OMIM:301022 |
Cornelia De Lange Syndrome 1 |
|
Ventricular septal defect, Pneumonia, Congenital diaphragmatic hernia, Cryptorchidism, Optic disc... |
OMIM:122470 |
Alström Syndrome |
|
Respiratory distress, Hypoplasia of the Leydig cells, Portal hypertension, Testicular fibrosis, D... |
ORPHA:64 |
Dpagt1-Cdg |
|
Prolonged QT interval, Flexion contracture, Optic atrophy, Intracranial hemorrhage, Anasarca, Pul... |
ORPHA:86309 |
Post-Traumatic Pituitary Deficiency |
|
Decreased testicular size, Hypotension |
ORPHA:95619 |
Immunodeficiency 31C |
|
Skeletal muscle atrophy, Recurrent respiratory infections, Bronchiectasis, Weight loss, Cough |
OMIM:614162 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Neonatal respiratory distress, Multiple joint contractures, Congenital diaphragmatic hernia, Weak... |
OMIM:265000 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Back pain, Bilateral camptodactyly, Fatigue, Spastic paraparesis |
OMIM:619234 |
Pancreatitis, Hereditary |
|
Pleural effusion |
OMIM:167800 |
Smith-Lemli-Opitz Syndrome |
|
Aganglionic megacolon, Ventricular septal defect, Congenital diaphragmatic hernia, Polyhydramnios... |
ORPHA:818 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Congenital diaphragmatic hernia |
ORPHA:1647 |
Celiac Disease, Susceptibility To, 1 |
|
Ataxia, Abdominal pain, Weight loss, Arthralgia, Failure to thrive |
OMIM:212750 |
17Q24.2 Microdeletion Syndrome |
|
Prolonged QT interval, Failure to thrive in infancy, Patent ductus arteriosus after birth at term... |
ORPHA:529962 |
Plague |
|
Respiratory distress, Tachycardia, Edema, Hematemesis, Endocarditis, Acute infectious pneumonia, ... |
ORPHA:707 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Fatigue, Chills, Weight loss |
ORPHA:86884 |
Inhalational Botulism |
|
Paralysis |
ORPHA:254504 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Cerebellar atrophy, Hypoventilation, Failure to thrive, Ataxia, Cerebral cortical neurodegenerati... |
OMIM:203700 |
Cataract 23, Multiple Types |
|
Lamellar cataract |
OMIM:610425 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal lung lobation, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Oligohydramnios |
ORPHA:958 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Rieger anomaly, Cataract, Proteinuria, Hypoplasia of the ciliary bod... |
OMIM:609049 |
Renal Tubular Acidosis Iii |
|
Periodic paralysis |
OMIM:267200 |
Isolated Anencephaly |
|
Congenital diaphragmatic hernia |
ORPHA:563609 |
Addison Disease |
|
Hyponatremia, Orthostatic hypotension, Primary testicular failure, Hypercalcemia, Hyperkalemia, W... |
ORPHA:85138 |
Acromesomelic Dysplasia 4 |
|
Third degree atrioventricular block |
OMIM:619636 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
Porphyria, Acute Intermittent |
|
Respiratory paralysis, Paralysis |
OMIM:176000 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Hypokalemia, Hypotension |
OMIM:611489 |
Perlman Syndrome |
|
Edema, Congenital diaphragmatic hernia, Large for gestational age, Cryptorchidism, Hypoplasia of ... |
OMIM:267000 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Paralysis |
ORPHA:83601 |
Nodular Non-Suppurative Panniculitis |
|
Weight loss, Arthralgia, Myalgia, Abdominal pain |
ORPHA:33577 |
Cystinosis, Nephropathic |
|
Hyponatremia, Skeletal muscle atrophy, Failure to thrive in infancy, Cerebral atrophy, Reduced bl... |
OMIM:219800 |
Solitary Fibrous Tumor |
|
Reduced C-peptide level, Weight loss, Neoplasm of the lung, Neoplasia of the pleura, Hypophosphat... |
ORPHA:2126 |
Igg4-Related Aortitis |
|
Asthma, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:449400 |
Acute Radiation Syndrome |
|
Interstitial pneumonitis, Hypotension, Telangiectasia |
ORPHA:454831 |
Goodpasture Syndrome |
|
Crackles, Nodular pattern on pulmonary HRCT, Increased DLCO, Tachypnea, Increased blood urea nitr... |
OMIM:233450 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Paralysis |
OMIM:242100 |
Arima Syndrome |
|
Dyspnea, Tachypnea, Optic atrophy, Ataxia |
OMIM:243910 |
Norrie Disease |
|
Clonus, Cachexia, Optic atrophy, Hypertonia, Failure to thrive, Cerebral cortical atrophy |
ORPHA:649 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Extrapyramidal muscular rigidity, Tremor, Hemiplegia/hemip... |
ORPHA:51 |
Eales Disease |
|
Optic disc pallor, Spastic paraparesis |
ORPHA:40923 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Cataract, Band keratopathy, Bicarbonaturia, Bicarbonate-wasting renal tubular ... |
ORPHA:47159 |
Caroli Disease |
|
Portal hypertension, Conjugated hyperbilirubinemia, Abnormal circulating alpha-fetoprotein concen... |
ORPHA:53035 |
Refractory Celiac Disease |
|
Hypomagnesemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Recurrent pharyngitis, Recurrent pneumonia, Hyperkalemia, Bronchiectasis, Recurrent... |
ORPHA:293978 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia, Hypotension |
ORPHA:199296 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Tachypnea |
OMIM:615751 |
Klatskin Tumor |
|
Fatigue, Weight loss, Abdominal pain |
ORPHA:99978 |
Proteus Syndrome |
|
Myofibrillar myopathy, Decreased muscle mass, Cachexia, Sudden cardiac death |
ORPHA:744 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Acute Monoblastic/Monocytic Leukemia |
|
Periorbital edema, Weight loss, Exertional dyspnea |
ORPHA:514 |
Arnold-Chiari Malformation Type I |
|
Abnormality of the musculature of the lower limbs, Babinski sign, Vocal cord paralysis, Gait atax... |
ORPHA:268882 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Inflammatory Pseudotumor Of The Liver |
|
Weight loss, Asthenia, Abdominal pain |
ORPHA:90003 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Cryptorchidism, Hyperkalemia, Hypovolemia, Dehydration, Abnormal circulating choles... |
ORPHA:168558 |
Brugada Syndrome 4 |
|
Shortened QT interval, Syncope, Atrial fibrillation |
OMIM:611876 |
Congenital Tufting Enteropathy |
|
Failure to thrive, Optic disc coloboma, Dehydration, Weight loss |
ORPHA:92050 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormal lung morphology, Abnormal testis morphology, Elevated circulating C-reactive protein con... |
ORPHA:54251 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Skeletal muscle atrophy, Peripheral axonal neuropathy, Flexion contracture, Br... |
ORPHA:90324 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Cryptorchidism, Hyperkalemia, Hypovolemia, Dehydration, Abnormal circulating choles... |
ORPHA:289548 |
Oculodentodigital Dysplasia |
|
Ataxia, Camptodactyly of finger, Optic atrophy, Spastic paraparesis, Spasticity |
ORPHA:2710 |
Osteootohepatoenteric Syndrome |
|
Asthma, Dehydration, Weight loss, Hypokalemia, Increased serum bile acid concentration, Failure t... |
OMIM:619377 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Shock, Hyponatremia, Hypovolemia, Hyperkalemia, Testicular adrenal rest tumor, Weight loss, Hypoc... |
ORPHA:90794 |
Glucose-Galactose Malabsorption |
|
Hypercalcemia, Dehydration, Weight loss, Hypernatremia, Failure to thrive |
ORPHA:35710 |
Acrofacial Dysostosis 1, Nager Type |
|
Aganglionic megacolon, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus ... |
OMIM:154400 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Partial anomalous pulmonary venous re... |
OMIM:301044 |
Acute Liver Failure |
|
Shock, Gastrointestinal hemorrhage, Abnormal respiratory system physiology, Hyperammonemia, Hepat... |
ORPHA:90062 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Myocardial infarction, Small cell lung carcinoma, Increased body weight, Pedal edema, Proximal am... |
ORPHA:99889 |
Carney-Stratakis Syndrome |
|
Weight loss, Paraganglioma, Abdominal pain |
ORPHA:97286 |
Hydrolethalus Syndrome 1 |
|
Ventricular septal defect, Polyhydramnios, Complete atrioventricular canal defect, Abnormal lung ... |
OMIM:236680 |
Encephalocraniocutaneous Lipomatosis |
|
Paralysis, Rigidity, Tetraplegia, Hemiparesis, Hypertonia, Hemiplegia, Spasticity |
ORPHA:2396 |
Poland Syndrome |
|
Dextrocardia, Congenital diaphragmatic hernia, Cryptorchidism, Aplasia of the pectoralis major mu... |
ORPHA:2911 |
Argininemia |
|
Cerebellar atrophy, Progressive spastic quadriplegia, Spastic paraparesis, Frequent falls, Spasti... |
OMIM:207800 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Parathyroid Carcinoma |
|
Hypercalcemia, Testicular neoplasm, Shortened QT interval, Weight loss, Hypophosphatemia |
ORPHA:143 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Dehydration, Hypokalemia, Increased circulating renin level, Hypotension |
OMIM:607364 |
Medullary Thyroid Carcinoma |
|
Pheochromocytoma, Weight loss |
ORPHA:1332 |
Vipoma |
|
Hypercalcemia, Respiratory insufficiency due to muscle weakness, Dehydration, Weight loss, Hemato... |
ORPHA:97282 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Dyspnea, Weight loss, Aspirati... |
ORPHA:1018 |
Gallbladder Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Weight loss, Chronic fatigue, Episodic abdominal pain |
ORPHA:100086 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy |
OMIM:613154 |
Multiple Endocrine Neoplasia Type 1 |
|
Hypercalcemia, Shortened QT interval, Hematemesis, Cranial nerve compression, Dehydration, Weight... |
ORPHA:652 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypertension, Abnormal autonomic nervous system physiology, Hypotension, Diffuse cerebellar atrop... |
ORPHA:93256 |
Say-Barber-Miller Syndrome |
|
Babinski sign, Optic atrophy, Elbow flexion contracture, Knee flexion contracture, Ankle clonus, ... |
ORPHA:3132 |
Insulin-Resistance Syndrome Type B |
|
Pneumonia, Abnormality of body weight, Abnormal circulating fatty-acid concentration, Increased b... |
ORPHA:2298 |
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis |
OMIM:226100 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Pain insensitivity, Somatic sensory dysfunction, Impaired temperature sensation, Distal sensory i... |
ORPHA:642 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Joint swelling, Flexion contracture, Weight loss |
ORPHA:85408 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hypertension, Hyperuricemia, Hypotension, Cerebral... |
OMIM:174000 |
Pallister-Killian Syndrome |
|
Sparse scalp hair, Alopecia, Tethered cord, Sparse eyelashes, Supernumerary nipple, Congenital di... |
OMIM:601803 |
Ppoma |
|
Gastrointestinal hemorrhage, Ascites, Hypercalcemia, Weight loss |
ORPHA:97278 |
Pituitary Apoplexy |
|
Hyponatremia, Hypertension, Hypotension |
ORPHA:95613 |
Cornelia De Lange Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Increased nuchal tran... |
ORPHA:199 |
Grfoma |
|
Gastrointestinal hemorrhage, Hypercalcemia, Weight loss, Neoplasm of the lung, Ascites |
ORPHA:97261 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Palpebral edema, Facial edema, Xerostomia, Weight loss, Abnormality of the extraocular ... |
ORPHA:79078 |
Iniencephaly |
|
Spina bifida, Congenital diaphragmatic hernia, Polyhydramnios, Spinal dysraphism, Syringomyelia, ... |
ORPHA:63259 |
Non-Functioning Pituitary Adenoma |
|
Macroorchidism, Macroorchidism, postpubertal, Hypotension |
ORPHA:91349 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Elbow flexion contracture, Congenital diaphragmatic hernia |
OMIM:618022 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Central hypoventilation, Impaired pain sensation, Asthma, Obesity, Cardiorespira... |
ORPHA:293987 |
Somatostatinoma |
|
Gastrointestinal hemorrhage, Ascites, Hypercalcemia, Weight loss |
ORPHA:97283 |
Short Syndrome |
|
Weight loss |
ORPHA:3163 |
Acrodermatitis Enteropathica |
|
Failure to thrive, Cerebral cortical atrophy, Weight loss |
ORPHA:37 |
Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
Craniorachischisis |
|
Cervical spina bifida, Congenital diaphragmatic hernia, Spinal dysraphism |
ORPHA:63260 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Hand tremor, Weight loss |
ORPHA:424 |
Coffin-Siris Syndrome 1 |
|
Recurrent respiratory infections, Ventricular septal defect, Congenital diaphragmatic hernia, Cry... |
OMIM:135900 |
Immunodeficiency 82 With Systemic Inflammation |
|
Pneumonia, Elevated circulating C-reactive protein concentration, Bronchitis, Bronchiectasis, Wei... |
OMIM:619381 |
Glucagonoma |
|
Gastrointestinal hemorrhage, Ascites, Hypercalcemia, Weight loss |
ORPHA:97280 |
Acrorenal-Mandibular Syndrome |
|
Elbow flexion contracture, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Oligohydramnios |
OMIM:200980 |
Craniofrontonasal Syndrome |
|
Cryptorchidism, Congenital diaphragmatic hernia |
OMIM:304110 |
Woodhouse-Sakati Syndrome |
|
Abnormal T-wave, Hyperlipidemia, Decreased testicular size |
OMIM:241080 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Familial Pancreatic Carcinoma |
|
Back pain, Weight loss, Chronic fatigue, Abdominal pain |
ORPHA:1333 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Papilledema, Elevated circulating C-reactive protein concentration, Elevated circulating creatini... |
ORPHA:91500 |
Woodhouse-Sakati Syndrome |
|
Abnormal T-wave, Hyperlipidemia, Decreased testicular size |
ORPHA:3464 |
Prolactinoma |
|
Hypotension |
ORPHA:2965 |
Diaphragmatic Hernia 2 |
|
Agenesis of the diaphragm, Congenital diaphragmatic hernia |
OMIM:222400 |
Zollinger-Ellison Syndrome |
|
Hematochezia, Gastrointestinal hemorrhage, Hypercalcemia, Weight loss |
ORPHA:913 |
C Syndrome |
|
Failure to thrive in infancy, Polyhydramnios, Congenital diaphragmatic hernia, Cryptorchidism, Ap... |
ORPHA:1308 |
Familial Gestational Hyperthyroidism |
|
Hand tremor, Weight loss |
ORPHA:99819 |
Malt Lymphoma |
|
Fatigue, Weight loss, Abdominal pain |
ORPHA:52417 |
Focal Dermal Hypoplasia |
|
Diastasis recti, Congenital diaphragmatic hernia, Cryptorchidism, Optic atrophy, Telangiectasia, ... |
OMIM:305600 |
Witteveen-Kolk Syndrome |
|
Small for gestational age, Unilateral cryptorchidism, Congenital diaphragmatic hernia, Polyhydram... |
OMIM:613406 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Fatigue, Weight loss, Abdominal pain |
ORPHA:309031 |
Monosomy 9P |
|
Cryptorchidism, Congenital diaphragmatic hernia |
ORPHA:261112 |
Distal Renal Tubular Acidosis |
|
Paralysis |
ORPHA:18 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Bicarbonaturia, Dehydration, Hypophosphatemia, Weight loss, Hypokalemia, Pulmonary ... |
ORPHA:3337 |
Tetraamelia Syndrome 1 |
|
Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
OMIM:273395 |
Pancreatoblastoma |
|
Weight loss, Abdominal pain |
ORPHA:677 |
Tropical Pancreatitis |
|
Epigastric pain, Weight loss |
ORPHA:103918 |
Osteopetrosis, Autosomal Recessive 3 |
|
Periodic hypokalemic paresis |
OMIM:259730 |
Pineoblastoma |
|
Paralysis |
ORPHA:251909 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Recurrent respiratory infections, Elevated circulating C-reactive protein concentration, Weight loss |
OMIM:301074 |
Microphthalmia, Syndromic 2 |
|
Flexion contracture, Spastic paraparesis, Contracture of the proximal interphalangeal joint of th... |
OMIM:300166 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Decreased testicular size, Septo-optic dysplasia, Optic nerve hypoplasia, Hypotension |
ORPHA:95494 |
Non-Acquired Panhypopituitarism |
|
Decreased testicular size, Hypotension |
ORPHA:90695 |