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Gene: Nrg1 MGI:96083

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
neuregulin 1
Synonyms:
GGF,  ARIA,  heregulin,  NDF,  D230005F13Rik,  Hgl,  HRG,  HGL,  6030402G23Rik,  SMDF,  HRGalpha,  GGFII

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Nrg1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Nrg1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Guillain-Barre Syndrome, Familial
Acute demyelinating polyneuropathy OMIM:139393
Adie Pupil
Tonic pupil OMIM:103100
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Facial Spasm
Anisocoria OMIM:134300
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Centrally nucleated skeletal muscle fibers, A... OMIM:271150
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Decreased miniature endplate potentials, Prolonged miniature endplate currents OMIM:616321
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Pelizaeus-Merzbacher disease
Abnormal CNS myelination, Leukodystrophy DECIPHER:38
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 4
Delayed myelination OMIM:611107
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Myasthenic Syndrome, Congenital, 15
Fatigable weakness OMIM:616227
Myopathy, Myofibrillar, 1
Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular... OMIM:601419
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... OMIM:254110
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Tremor, Dyspnea, Abnormality of the seventh c... ORPHA:90117
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart ORPHA:3283
Myasthenic Syndrome, Congenital, 18
Fatigable weakness OMIM:616330
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Hand muscle weakness, Decr... OMIM:606070
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal musc... ORPHA:266
Myasthenic Syndrome, Congenital, 13
Fatigable weakness OMIM:614750
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Nemaline Myopathy 8
Death in infancy, Facial palsy, Flexion contracture, Respiratory failure, Myofibrillar myopathy, ... OMIM:615348
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:160150
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Pa... OMIM:611890
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Iris coloboma, Chorioretinal coloboma OMIM:616428
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Muscular Dystrophy, Congenital, 1B
Facial palsy, Achilles tendon contracture, Generalized muscle hypertrophy, Pectoralis amyotrophy,... OMIM:604801
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... OMIM:616852
Glossopharyngeal Neuralgia
Cranial nerve compression, Schwannoma, Jaw claudication, Abnormal glossopharyngeal nerve morpholo... ORPHA:221098
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Uveal Melanoma
Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis ORPHA:39044
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency du... OMIM:620286
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Respiratory in... OMIM:608423
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Hand muscle atrophy, Hand muscle weakness, Distal amyotro... OMIM:607641
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Cardiomyopathy, Onion bulb formation OMIM:610100
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology, Abnormal heart morphology ORPHA:91412
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Facial palsy, Abnormal motor nerve conduction velocity, Camptodactyly of fi... OMIM:614399
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Reduced vital capacity, Ankle flexion contracture, Centrally nucleated s... OMIM:617760
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Peripheral axonal neuropathy, Supraventricular arrhythmia, Optic atrophy, Cardiomyopathy, Leg mus... ORPHA:320360
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Peripheral axonal neuropathy, Centrally nucleated skeletal muscle fibers, Optic a... ORPHA:401768
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:619733
Myasthenic Syndrome, Congenital, 6, Presynaptic
Generalized hypotonia due to defect at the neuromuscular junction, Decreased miniature endplate p... OMIM:254210
Congenital Myopathy 4A, Autosomal Dominant
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Reduced forced ... OMIM:255310
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Cyanosis, Skeletal muscle atrophy, Facial palsy, Triceps weakn... ORPHA:98913
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... OMIM:255320
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Burning Mouth Syndrome
Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials ORPHA:353253
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Congenital Myopathy 3 With Rigid Spine
Reduced vital capacity, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contrac... OMIM:602771
Megalocornea
Iridodonesis, Cataract, Miosis, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumi... OMIM:309300
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Flexion contracture, Death in adolescence, Resp... OMIM:300717
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors
Fatigable weakness OMIM:254190
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Abnormal autonomic nervous system physiology, T... ORPHA:101016
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... OMIM:616201
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... OMIM:614022
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Abnormal motor neuron morp... DECIPHER:29
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... OMIM:615424
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Respiratory insufficiency, Upper limb muscle weakness,... OMIM:605253
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Onion bulb formation, Decreased nerve conduction veloc... OMIM:611228
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, ... ORPHA:85451
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... OMIM:613954
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Reduced forced vital capacity, Z-band streaming, Calf... OMIM:619178
Microcoria, Congenital
Microcoria, Miosis, Hypoplasia of the iris dilator muscle OMIM:156600
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction, Abnormal myelination ORPHA:431329
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity, Hypertrophic cardiomyopathy ORPHA:868
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Scapular winging, Reduced vital capacity, Calf muscle pseudohypertrophy, Centrally nucleated skel... OMIM:608358
Chronic Inflammatory Demyelinating Polyneuropathy
Segmental peripheral demyelination/remyelination, Decreased nerve conduction velocity, Motor cond... ORPHA:2932
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Generalized hypotonia due to defect at the neuromuscular junction, Decreased miniature endplate p... OMIM:605809
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy OMIM:183020
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Arrhythmia, Peripheral demyelination ORPHA:99944
Leber Hereditary Optic Neuropathy
Retinal telangiectasia, Optic atrophy, Ventricular preexcitation, Myopathy, Arrhythmia ORPHA:104
Supravalvular Aortic Stenosis
Arrhythmia, Supravalvular aortic stenosis ORPHA:3193
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Centrally nucleated skeletal muscle fibers, Dyspnea, Limb-girdle muscle wea... ORPHA:86812
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Microphthalmia, Isolated, With Coloboma 7
Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... OMIM:618782
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Congenital Myasthenic Syndromes With Glycosylation Defect
Fatigable weakness, Facial palsy, Abnormal peripheral nervous system synaptic transmission, Favor... ORPHA:353327
Benign Schwannoma
Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth cranial nerve, Sclera... ORPHA:252164
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... OMIM:117000
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Segme... OMIM:601098
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Slowed Nerve Conduction Velocity, Autosomal Dominant
Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination OMIM:608236
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency, Proximal... OMIM:612999
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Abnormal autonomic nervous system physiolog... ORPHA:85447
Spinal Muscular Atrophy, Type I
Spinal muscular atrophy, Respiratory insufficiency, Proximal amyotrophy, Proximal muscle weakness... OMIM:253300
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Myopathy, Centronuclear, 2
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Respiratory insuffici... OMIM:255200
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Congenital Myopathy 14
Hip contracture, Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Flexi... OMIM:618414
Mitochondrial Myopathy With Diabetes
Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyotrophy, Weakness of or... OMIM:500002
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy OMIM:616209
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Proximal muscle weakness... OMIM:620068
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Symme... ORPHA:206594
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Death in early adulthood, Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers... OMIM:255160
Congenital Muscular Dystrophy With Intellectual Disability
Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Facial palsy, Reduced muscl... ORPHA:370968
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... OMIM:610476
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Reduced forced vital capacity, Respiratory insufficie... OMIM:617066
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... OMIM:601846
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Peripheral axonal degeneration, Spinal muscular atrophy, Camptodactyly of finger, Decreased nerve... OMIM:604320
Myasthenic Syndrome, Congenital, 14
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... OMIM:616228
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... ORPHA:2593
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Hypertr... OMIM:616276
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Myopathy, Distal, Tateyama Type
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... OMIM:614321
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... OMIM:601382
Ethanolaminosis
Cardiomegaly OMIM:227150
Hereditary Myopathy With Early Respiratory Failure
Orthopnea, Reduced vital capacity, Skeletal muscle atrophy, Internally nucleated skeletal muscle ... ORPHA:178464
Intestinal Botulism
Mydriasis ORPHA:178481
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Respiratory failure,... ORPHA:171433
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Pontocerebellar Hypoplasia Type 1
Skeletal muscle atrophy, Peripheral axonal neuropathy, Optic atrophy, Congenital laryngeal strido... ORPHA:2254
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Decreased amplitude of sensory acti... OMIM:608673
Pontocerebellar Hypoplasia, Type 1C
Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency, Respiratory failure,... OMIM:616081
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... OMIM:618129
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Null Syndrome
Decreased nerve conduction velocity, Optic atrophy, CNS hypomyelination, Abnormality of periphera... ORPHA:280234
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Bradycardia, Neonatal death, Wea... OMIM:620265
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Lower limb muscle weakness, Tremor, Respiratory insuffici... ORPHA:2590
Arnold-Chiari Malformation Type I
Abnormality of the musculature of the lower limbs, Cranial nerve compression, Abnormality of the ... ORPHA:268882
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Tremor, Ragged-red muscle fibers, Intrinsic hand muscle ... ORPHA:276435
Rhabdomyolysis, Susceptibility To, 1
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... OMIM:620235
Polyglucosan Body Myopathy 2
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... OMIM:616199
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology, Spinal muscular atrophy, Scapuloperoneal amyotrophy, Resp... OMIM:611067
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Resp... ORPHA:169186
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Centrally nu... ORPHA:596
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Lethal Congenital Contracture Syndrome 5
Death in infancy, Centrally nucleated skeletal muscle fibers, Decreased nerve conduction velocity... OMIM:615368
Van Den Bosch Syndrome
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors ORPHA:3417
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... ORPHA:75566
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Iris cyst OMIM:620086
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Bradycardia, Muscular dystroph... OMIM:614302
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Myopathy, Myofibrillar, 5
Respiratory insufficiency, Abnormal peripheral nervous system morphology, Muscle fiber cytoplasma... OMIM:609524
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... OMIM:619897
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Fatigable weakness, Prolonged miniature endplate currents OMIM:601462
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Abnormal ... ORPHA:330001
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:607734
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... ORPHA:98905
Myasthenic Syndrome, Congenital, 5
Fatigable weakness, Prolonged miniature endplate currents OMIM:603034
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f... OMIM:618823
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Optic atrophy, Bradycardia, Hypertrophic cardiomyopathy OMIM:614702
Iatrogenic Botulism
Mydriasis ORPHA:254509
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Facial palsy, Decreased miniature endplate potentials OMIM:608930
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Weakness of muscles of respi... ORPHA:52430
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... OMIM:181350
Wound Botulism
Mydriasis ORPHA:178475
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Skeletal muscle atrophy, Facial palsy, Elbow contracture, Achilles tendon contracture, Proximal a... OMIM:606612
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... OMIM:115200
Charcot-Marie-Tooth Disease, Type 4H
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:609311
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Peripheral axonal neuropathy, Miscarriage, Centrally nuc... ORPHA:169189
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Nathalie Syndrome
Arrhythmia ORPHA:2663
Congenital Myopathy 18
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e... OMIM:620246
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Flexion contracture, ... OMIM:618484
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis ORPHA:247815
Hartnup Disorder
Episodic ataxia, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Myasthenic Syndrome, Congenital, 23, Presynaptic
Fatigable weakness OMIM:618197
Inhalational Botulism
Mydriasis ORPHA:254504
Leukodystrophy, Hypomyelinating, 18
Decreased nerve conduction velocity, Abnormal motor nerve conduction velocity, Failure to thrive,... OMIM:618404
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture... OMIM:603689
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Leukodystrophy DECIPHER:59
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Flexion contracture, Bradycardia OMIM:618815
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia OMIM:616277
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... ORPHA:611
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology ORPHA:137596
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Muscular Dystrophy, Limb-Girdle, Type 1H
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ... OMIM:613530
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:118210
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:611705
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Left ventricular hypertrophy, Congestive heart failure, Bradycardia, Ventricular hypertrophy OMIM:619048
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle... OMIM:620310
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Optic atrophy, Respiratory failure, Aspiration pneumonia OMIM:619057
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Myopathy, Centronuclear, 4
Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers OMIM:614807
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Froment sign, Segmental peripheral demyelination/remye... OMIM:162500
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Respiratory insufficiency due to muscle weakn... ORPHA:399058
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Peripheral axonal neuropathy, Respiratory insufficiency, Respira... OMIM:611722
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:607706
Nemaline Myopathy 10
Skeletal muscle atrophy, Death in infancy, Facial palsy, Respiratory insufficiency due to muscle ... OMIM:616165
Hyperprolinemia, Type I
Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior OMIM:239500
Muscle Filaminopathy
Scapular winging, Fatty replacement of skeletal muscle, Respiratory insufficiency, Abnormality of... ORPHA:171445
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617072
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Facial palsy, Dyspnea, Decreased compound muscle action potential amplitude, Flexion contracture,... OMIM:603511
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... OMIM:601596
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Sudden cardiac death, Left ventricular outflow tract obstruction, Reduced left ventricular endsys... OMIM:620236
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Merrf
Myopathy, Ragged-red muscle fibers, Optic atrophy ORPHA:551
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors OMIM:301107
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Respiratory insufficienc... ORPHA:486815
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Pallor of dorsal columns ... OMIM:602433
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers OMIM:618992
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Bilateral Acute Depigmentation Of The Iris
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... ORPHA:69736
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Abnormal respiratory system physiology, Centrally nu... ORPHA:324581
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Apnea, Respiratory insufficiency, Respiratory failure, Muscular dystrophy OMIM:613869
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
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Skeletal muscle atrophy ORPHA:247604
Perching Syndrome
Respiratory distress, Joint contracture, Cyanosis, Camptodactyly OMIM:617055
Charcot-Marie-Tooth Disease Type 1A
Acute demyelinating polyneuropathy, Decreased motor nerve conduction velocity, Decreased sensory ... ORPHA:101081
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Dyst... ORPHA:309169
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest OMIM:618235
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination ORPHA:401835
Myopathy, Myofibrillar, 8
Scapular winging, Reduced vital capacity, Centrally nucleated skeletal muscle fibers, Achilles te... OMIM:617258
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Abnormal autonomic nervous system physiology, Bradycardia, Joint contracture, Limb... OMIM:614498
Botulism
Mydriasis ORPHA:1267
Nonaka Myopathy
Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... OMIM:605820
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity, Truncal obesity, Arrhythmia ORPHA:2928
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Demyelinating motor neuropathy, Decreased nerve conduction velocity, Abnormal motor evoked potent... ORPHA:99939
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Failure to thrive in infancy, Decreased number of large peripheral myelinated nerve fibers, Decre... ORPHA:90103
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... OMIM:616040
Cln3 Disease
Left ventricular hypertrophy, T-wave inversion, Optic atrophy, Bradycardia ORPHA:228346
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Neuropathy, Congenital Hypomyelinating, 2
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:618184
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:615376
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Neonatal respiratory distress, Peripheral axonal neuropathy, Spinal musc... OMIM:616867
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn... ORPHA:75840
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... OMIM:618655
Charcot-Marie-Tooth Disease, Type 4A
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:214400
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Perimembranous ventricular septal defect, Limb hypertonia, Cardiomegaly OMIM:619170
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Decre... OMIM:606071
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... OMIM:608751
Foodborne Botulism
Mydriasis ORPHA:228371
Tick-Borne Encephalitis
Skeletal muscle atrophy, Facial palsy, Abnormal glossopharyngeal nerve morphology, Polyneuritis, ... ORPHA:297
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Ragged-red muscle fibers, Limb muscle weakness, EMG: myopathic abnormalities, Cardiomyopathy, Bra... OMIM:609286
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric... OMIM:601005
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Myopathy, Centronuclear, 5
Hip contracture, Weakness of facial musculature, Respiratory insufficiency, Centrally nucleated s... OMIM:615959
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure, Gliosis, Congenital contracture OMIM:225753
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:609260
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Peripheral axonal neuropathy, Tremor, Cerebellar gliosis, Flexion contracture, Optic atrophy, Res... OMIM:616505
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Bilateral Polymicrogyria
Facial diplegia, Abnormality of masticatory muscle, Arthrogryposis multiplex congenita, Abnormal ... ORPHA:268940
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morph... ORPHA:1145
Zebra Body Myopathy
Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr... ORPHA:97240
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Decreased compound muscle action potential amplitude OMIM:619112
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Gliosis, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:612577
Multifocal Atrial Tachycardia
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... ORPHA:3282
Congenital Myopathy 22A, Classic
Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon co... OMIM:620351
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Ragged-red muscle fibers... OMIM:160500
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity OMIM:608323
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Muscular Dystrophy, Becker Type
Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia OMIM:300376
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Dystonia 31
Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Abnormal posturing, Craniofacia... OMIM:619565
Roussy-Levy Hereditary Areflexic Dystasia
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:180800
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... OMIM:615745
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Hand muscle atrophy, Respiratory failure, Limb muscle weakness OMIM:600561
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Infant Botulism
Keratoconjunctivitis sicca, Mydriasis ORPHA:178478
Mitochondrial Myopathy, Infantile, Transient
Facial palsy, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Increas... OMIM:500009
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure, Ragged-red muscle fibers OMIM:616794
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... OMIM:610202
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Limb joint contracture, Flexion contracture, Respirato... OMIM:618186
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Spinocerebellar Ataxia Type 1
Skeletal muscle atrophy, Postural tremor, Optic atrophy, Abnormality of masticatory muscle, Respi... ORPHA:98755
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria
Abnormal mitochondria in muscle tissue, Abnormal cranial nerve morphology OMIM:258470
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials OMIM:618912
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Tetanus
Tachycardia, Hypertension, Abnormal autonomic nervous system physiology, Bradycardia, Autonomic b... ORPHA:3299
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Reduced forced vital capacity, Respiratory insufficie... OMIM:619518
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T... ORPHA:2041
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... OMIM:615422
Myasthenic Syndrome, Congenital, 12
Fatigable weakness, Facial palsy OMIM:610542
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Papilledema, Ventricular septal defect, Pericardial effusion, Brady... OMIM:618775
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... ORPHA:3092
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:605588
Leigh Syndrome
Optic atrophy, Respiratory insufficiency, Respiratory failure, Gliosis, Dystonia, Abnormal patter... OMIM:256000
Coats Disease
Leukocoria OMIM:300216
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency
Fatigable weakness, Facial palsy OMIM:616325
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, Spa... OMIM:606353
Miller Fisher Syndrome
Anisocoria, Mydriasis ORPHA:98919
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency... ORPHA:254875
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Decreased nerve conduction velocity, Congestive heart failure, Arrhy... ORPHA:85446
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Weakness of facial musculature, Respiratory failure OMIM:618637
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... ORPHA:66529
Pulmonary Blastoma
Weight loss ORPHA:64741
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Dilated cardiomyopathy, Optic atrophy, Ragged-red muscle fibers, Left ventri... OMIM:252011
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Cardiomyopathy, Abnormal heart valve morphology ORPHA:93476
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:605285
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Myasthenic Syndrome, Congenital, 3B, Fast-Channel
Fatigable weakness, Facial palsy OMIM:616322
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Reduced forced vital capacity, Fatty replacement of skeletal muscle, Achilles ... OMIM:620249
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude OMIM:605726
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Atrioventricula... OMIM:212138
Neuralgic Amyotrophy
Scapular winging, Acrocyanosis, Respiratory insufficiency ORPHA:2901
Krabbe Disease
Decreased nerve conduction velocity, Optic atrophy, EEG abnormality, CNS demyelination, Failure t... OMIM:245200
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculat... OMIM:181400
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, Myopathy,... OMIM:167320
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory insufficiency ... OMIM:602099
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... OMIM:616313
Arthrogryposis Multiplex Congenita 6
Death in infancy, Respiratory failure, Death in childhood, Neonatal death, Increased variability ... OMIM:619334
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... OMIM:620138
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12
Decreased motor nerve conduction velocity OMIM:614751
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia OMIM:614654
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity OMIM:605589
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... OMIM:617030
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:118220
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... OMIM:612124
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund... ORPHA:268
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619470
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Cednik Syndrome
Congestive heart failure, Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:66631
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Vestibular schwannoma OMIM:613641
Muscular Dystrophy, Progressive Pectorodorsal
Scapular winging, Arrhythmia, Shoulder girdle muscle weakness, Muscular dystrophy OMIM:310095
Charcot-Marie-Tooth Disease, Type 4B3
Decreased nerve conduction velocity, Myelin outfoldings, Onion bulb formation OMIM:615284
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... OMIM:609115
Distal Hereditary Motor Neuropathy Type 5
Abnormal motor nerve conduction velocity ORPHA:139536
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Muscle fiber atroph... OMIM:619542
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Respiratory failure,... ORPHA:171430
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... ORPHA:457050
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Neonatal deat... OMIM:614096
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, CNS demyelination, Peripheral demyelination OMIM:249900
Multiple Mitochondrial Dysfunctions Syndrome 3
Arthrogryposis multiplex congenita, Respiratory failure, Optic atrophy, Respiratory insufficiency OMIM:615330
Mitochondrial Complex I Deficiency, Nuclear Type 18
Optic disc pallor, Respiratory failure, Death in infancy OMIM:618240
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity ORPHA:101075
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... ORPHA:542306
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Onion... OMIM:607684
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... OMIM:618654
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Tremor, Intrinsic hand muscle atrophy, Stridor, Trice... OMIM:619574
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi... ORPHA:49827
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Triosephosphate Isomerase Deficiency
Respiratory distress, Optic disc pallor, Skeletal muscle atrophy, Death in infancy, Tremor, Respi... OMIM:615512
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Multiple joint contractures, Writer's cramp, Facial palsy, Tre... OMIM:128100
Amoebic Keratitis
Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri... ORPHA:67043
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Respiratory failure OMIM:613435
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:614895
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Limb muscle weakness,... OMIM:609560
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ... OMIM:619279
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Tuberculosis
Weight loss ORPHA:3389
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:118200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... OMIM:618920
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Myopathy, Cyanosis ORPHA:91130
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, E... OMIM:300696
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Decreased motor nerve conduction velocity OMIM:620111
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity ORPHA:640
Chiari Malformation Type Ii
Cyanosis, Spina bifida, Myelomeningocele, Hydrocephalus, Opisthotonus, Cervical myelopathy, Syrin... OMIM:207950
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Arrhythmia, Camptodactyly OMIM:618453
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... ORPHA:45452
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Centrally nucleated skeletal muscle fibers, Myopathy, Neo... OMIM:300219
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Respiratory insufficie... ORPHA:598
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Autosomal Recessive Spastic Paraplegia Type 21
Abnormality of peripheral nerve conduction ORPHA:101001
Charcot-Marie-Tooth Disease Type 4A
Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity... ORPHA:99948
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Optic disc pallor, Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, ... OMIM:619167
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Optic atrophy, Cardiomyopathy, Atrial septal d... OMIM:249270
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:600882
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Athetosis, Self-injurious behavior ORPHA:382
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Peripheral axonal neuropathy, Scapular winging, Centrally nucleated skel... OMIM:607459
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity, Leukodystrophy OMIM:614932
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... OMIM:616812
Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Motor neuron atrophy, Dyspnea, Abnormal r... ORPHA:803
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, G... OMIM:105550
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation ORPHA:54
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination ORPHA:401830
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity OMIM:607678
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele... ORPHA:263297
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Klippel-Feil Syndrome 3, Autosomal Dominant
Iris coloboma, Chorioretinal coloboma OMIM:613702
Serotonin Syndrome
Mydriasis ORPHA:43116
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Opisthotonus, Respiratory failure, Neonatal death, P... OMIM:605711
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:616437
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ab... ORPHA:860
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... OMIM:618848
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity OMIM:302801
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Absent P wave, Sudden cardiac death, First degree atrioventricular block... OMIM:310300
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,... OMIM:611493
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:145900
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Skeletal muscle atrophy, Multiple joint contractu... ORPHA:70
Isaacs Syndrome
EEG abnormality, Weight loss ORPHA:84142
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior OMIM:605899
Hyperekplexia 4
Respiratory failure, Flexion contracture, Distal arthrogryposis, Camptodactyly OMIM:618011
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... OMIM:261740
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Hand muscle atrophy, Amyotrophic lateral sclerosis, Gener... OMIM:205100
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Syncope OMIM:603472
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Woolly Hair Nevus
Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myopath... OMIM:248800
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior OMIM:612716
Autosomal Recessive Spastic Paraplegia Type 67
Abnormal myelination ORPHA:401820
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea OMIM:251750
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Generalized dystonia, Opisthotonus, Aspiration pneumonia, Cough, Abnormal post... ORPHA:216866
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Decreased nerve conduction velocity, EEG abnormality, Optic atrophy, Abnormal peripheral action p... ORPHA:457205
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Facial diplegia, ... OMIM:218000
Classic Glucose Transporter Type 1 Deficiency Syndrome
Choreoathetosis, Central apnea, Cyanosis, Dystonia ORPHA:71277
Charcot-Marie-Tooth Disease, Type 4B2
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:604563
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Decreased nerve con... ORPHA:600
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Leber Optic Atrophy
Myopathy, Arrhythmia, Optic atrophy, Optic neuropathy OMIM:535000
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... OMIM:601954
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Hypoplasia of the musculature, Paucity of anterior horn motor neurons, N... OMIM:253310
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Respiratory failure, ... ORPHA:3240
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Skeletal muscle atrophy, Neonatal respiratory distress, Death in infancy, Respiratory insufficien... OMIM:245400
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Lower limb muscle weakness, Angulated muscle fibers, Decreased number of large peripheral myelina... OMIM:608340
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Optic atrophy, Respiratory insufficiency, Resp... OMIM:614299
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Demyelinating peripheral neuropathy ORPHA:101077
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction ORPHA:65684
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Peripheral axonal neuropathy, Orthostatic hypotension, Ne... OMIM:263570
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh... ORPHA:1345
Myopathy, Myofibrillar, 2
Orthopnea, Respiratory insufficiency due to muscle weakness, Limb-girdle muscle weakness, Quadric... OMIM:608810
Early-Onset X-Linked Optic Atrophy
Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy ORPHA:98890
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Motor... ORPHA:99953
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory insufficiency, Respiratory failure, Neonatal death, Sensory axonal neuropathy OMIM:610127
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... OMIM:614916
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Lennox-Gastaut Syndrome
Hyperactivity, Falls, Aggressive behavior ORPHA:2382
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Mitochondrial Dna Depletion Syndrome 11
Facial palsy, Ragged-red muscle fibers, Dilated cardiomyopathy, Proximal amyotrophy, Generalized ... OMIM:615084
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode, Apnea OMIM:610992
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Aganglionic megacolon, Ventricular septal defect, Patent ductus arteriosus, Flexion ... OMIM:613870
Pelizaeus-Merzbacher Disease
Optic atrophy, Reduction of oligodendroglia OMIM:312080
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Adult-Onset Distal Myopathy Due To Vcp Mutation
Reduced vital capacity, Scapular winging, Abnormality of the musculature of the lower limbs, Decr... ORPHA:329478
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Decreased motor nerve conduction velocity OMIM:616687
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Infantile Refsum Disease
Hepatomegaly, Facial palsy, Optic atrophy, Cardiomyopathy, Arrhythmia ORPHA:772
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation OMIM:615516
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Mydriasis OMIM:259720
Weill-Marchesani Syndrome 4
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... OMIM:613195
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... ORPHA:98914
Congenital Myasthenic Syndrome
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... ORPHA:590
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Neuromyelitis Optica Spectrum Disorder
Respiratory failure, Peripheral demyelination, Myelitis ORPHA:71211
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... ORPHA:454836
Idiopathic Congenital Hypothyroidism
Macroglossia, Umbilical hernia, Bradycardia ORPHA:95717
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... OMIM:618718
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Limb joint contracture, Bradycardia OMIM:619814
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Respiratory failure, Respiratory insufficiency, Knee flexion contracture OMIM:313420
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Central hypoventilation, Optic atrophy, Apnea OMIM:618233
Familial Multiple Nevi Flammei
Pulmonary embolism, Arrhythmia, Intracranial hemorrhage, Abnormal cranial nerve morphology ORPHA:624
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Scapuloperoneal Spinal Muscular Atrophy
Torticollis, Progressive distal muscular atrophy, Scapular winging, Facial palsy, Peroneal muscle... OMIM:181405
Combined Oxidative Phosphorylation Defect Type 13
Decreased nerve conduction velocity, Delayed myelination, Failure to thrive ORPHA:319514
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity OMIM:607831
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vasculit... ORPHA:3287
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity OMIM:615575
Multisystemic Smooth Muscle Dysfunction Syndrome
Mydriasis OMIM:613834
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Gliosis, Generalized amyotrophy, Abnormal upper motor neu... ORPHA:275872
Combined Oxidative Phosphorylation Defect Type 39
Optic disc pallor, Decreased nerve conduction velocity, Congenital foot contractures, Bradycardia... ORPHA:565624
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Myasthenic Syndrome, Congenital, 16
Fatigable weakness OMIM:614198
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Achilles tendon contracture OMIM:607225
Dystonia 23
Arrhythmia, Torticollis OMIM:614860
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology ORPHA:1617
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, Right ventricul... ORPHA:422
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca... OMIM:608099
Asbestos Intoxication
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... ORPHA:2302
Autosomal Recessive Progressive External Ophthalmoplegia
Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Optic atrophy, My... ORPHA:254886
Glutamine Deficiency, Congenital
Neonatal death, Flexion contracture, Bradycardia, Camptodactyly OMIM:610015
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity ORPHA:1368
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe... OMIM:221900
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy ORPHA:99014
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Dyspnea, Ragged-red muscle fibers, Myopathy, Re... ORPHA:352447
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Decreased nerve conduction velocity OMIM:183050
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Exaggerated startle response, Apnea, Flexion contracture, Optic atrophy, Elbow f... OMIM:617301
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Nemaline Myopathy 2
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Apnea, Thenar muscle atrophy, Respiratory... OMIM:256030
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Joint contracture of the 5th finger, Bradycardia, Atrioventricular block OMIM:614407
Pituitary Apoplexy
Mydriasis ORPHA:95613
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia OMIM:616198
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity OMIM:608895
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity OMIM:613287
X-Linked Charcot-Marie-Tooth Disease Type 6
Decreased nerve conduction velocity ORPHA:352675
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Respiratory insufficiency due to muscle we... OMIM:254090
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left... OMIM:540000
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity ORPHA:101078
Mohr-Tranebjaerg Syndrome
Tremor, Abnormal posturing, Intrinsic hand muscle atrophy, Dystonia OMIM:304700
Idiopathic Achalasia
Weight loss ORPHA:930
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Skeletal muscle atrophy, Death in infancy, Abnormality of skeletal muscle f... OMIM:620278
Oculopharyngodistal Myopathy 2
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... OMIM:618940
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... ORPHA:1302
Idiopathic Camptocormia
Abnormal synaptic transmission at the neuromuscular junction, Amyotrophic lateral sclerosis, Fati... ORPHA:1320
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Arrhythmia, Abnormal autonomic nervous system physiology, Cardiac arrest ORPHA:168593
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Illum Syndrome
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia OMIM:208155
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity OMIM:619862
Arachnoid Cyst
Mydriasis ORPHA:2356
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Respir... ORPHA:258
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity OMIM:606595
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Limb muscle weakness, Abnormal oligodendroglia morphology ORPHA:217260
D-Glyceric Aciduria
Optic nerve hypoplasia, Patent ductus arteriosus, Bradycardia OMIM:220120
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology, Distal amyotrophy, Intention tremor OMIM:215470
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity ORPHA:1188
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough OMIM:263000
Igg4-Related Ophthalmic Disease
Abnormality of the extraocular muscles, Abnormal fifth cranial nerve morphology, Abnormality of i... ORPHA:449563
Snakebite Envenomation
Epistaxis, Angioedema, Erythema, Rhabdomyolysis, Respiratory failure, Respiratory paralysis, Musc... ORPHA:449285
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Demyelinating peripheral neuropathy, Decreased amplitu... ORPHA:99950
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss OMIM:605543
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Tremor, Myopathy, Respiratory failure, Limb dystonia ORPHA:363400
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... ORPHA:263479
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... OMIM:613873
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity OMIM:600361
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... ORPHA:57777
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Cerebral hemorrhage, Congestive heart failure, Cranial nerve comp... ORPHA:94080
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Cyanosis, Apnea, Abnormal hemidiaphragm morphology, Asthma, Tachyp... ORPHA:2257
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Optic disc pallor, Respiratory failure, Tachypnea, Death in childhood OMIM:615838
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Optic atrophy, Respirator... OMIM:220110
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Tremor, Increased variability in muscle fiber diamet... OMIM:619473
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior OMIM:620023
Spastic Paraplegia Type 7
Optic disc pallor, Ragged-red muscle fibers, Optic atrophy, Upper limb muscle weakness, Lower lim... ORPHA:99013
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Skeletal muscle atrophy, Multiple joint contractures, Respiratory insufficiency du... OMIM:618291
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Decreased compound muscle action potential amplitude, Onion bulb formation, Peripheral demyelination OMIM:618279
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Atrioventricular canal defect, Bradycardia, Conotruncal defect ORPHA:40366
Oculopharyngeal Muscular Dystrophy
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology ORPHA:270
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... ORPHA:34516
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Posterior lenticonus, Iris coloboma, Chorioretinal coloboma ORPHA:231736
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Neurogenic bladder, Skeletal muscle atrophy, ... ORPHA:496641
Synaptic Congenital Myasthenic Syndromes
Abnormal synaptic transmission at the neuromuscular junction, Unfavorable response of muscle weak... ORPHA:98915
Autosomal Dominant Spastic Paraplegia Type 17
Abnormal motor nerve conduction velocity ORPHA:100998
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... ORPHA:615
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Onion bulb formation, Abnormal auditory evoked potentials, S... OMIM:601455
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Decreased compound muscle action potential amplitude OMIM:619519
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Decreased nerve conduction velocity, Decreased number of small peripheral myelinated nerve fibers... ORPHA:101097
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... OMIM:614473
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Weight loss ORPHA:2198
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Congenital Muscular Dystrophy Due To Lmna Mutation
Congestive heart failure, Arrhythmia, Cachexia ORPHA:157973
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Hydrocephalus, Cardiomegaly OMIM:300886
Roussy-Lévy Syndrome
Acute demyelinating polyneuropathy, Decreased motor nerve conduction velocity ORPHA:3115
Pyruvate Dehydrogenase E1-Alpha Deficiency
Tremor, Apneic episodes precipitated by illness, fatigue, stress, Choreoathetosis, Respiratory fa... OMIM:312170
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Optic neuropathy, Tremor, Dyspnea, Rhabdomyolysis, Optic atrophy, Respiratory i... OMIM:610505
Pelizaeus-Merzbacher Disease, Connatal Form
Abnormal morphology of musculature of pharynx, Titubation, Respiratory failure, Gliosis, Lower li... ORPHA:280210
Hepatic Veno-Occlusive Disease
Jaundice, Respiratory failure ORPHA:890
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Gliosis, Respiratory failure ORPHA:168486
Poliomyelitis
Respiratory failure requiring assisted ventilation, Skeletal muscle atrophy, Abnormal motor nerve... ORPHA:2912
Alternating Hemiplegia Of Childhood
Mydriasis ORPHA:2131
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased number of peripheral myelinated nerve fibers, Overriding aorta, Bicuspid aortic valve, ... ORPHA:477817
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Congestive heart failure, Optic atrophy, Cardiomyopathy, Limb muscle weakness OMIM:619259
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Facial palsy, Respiratory insufficiency due to muscle weakness, Ragged-r... OMIM:258450
Hec Syndrome
Abnormal pupil morphology, Developmental cataract ORPHA:2119
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Axonal loss, Gliosis, Peripheral demyelination OMIM:221770
Pleural Mesothelioma
Abnormal cardiovascular system physiology, Weight loss ORPHA:50251
Hsd10 Disease, Infantile Type
Choreoathetosis, Cyanosis, Optic atrophy, Dystonia ORPHA:391428
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity OMIM:302802
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Progressive cerebellar ataxia ORPHA:248111
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity OMIM:607250
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Broad-based gait, Ataxia, Inappropriate laughter, Polyphagia ORPHA:411515
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Lower limb muscle weakness, Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotroph... OMIM:616924
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Mydriasis OMIM:619351
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arr... OMIM:602390
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormal nerve conduction velocity ORPHA:2926
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Hereditary Methemoglobinemia
Athetosis, Exertional dyspnea, Cyanosis, Limb dystonia ORPHA:621
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elbow flexion contracture, Joint contracture, Muscular dystrophy, Generalized amyotrophy, Arrhythmia OMIM:616516
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Ragged-red muscle fiber... ORPHA:254864
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... ORPHA:1677
Perry Syndrome
Hypotension, Weight loss ORPHA:178509
Alexander Disease
Microcoria OMIM:203450
Bickerstaff Brainstem Encephalitis
Anisocoria, Mydriasis ORPHA:79138
Central Core Disease
Neonatal respiratory distress, Multiple joint contractures, Respiratory insufficiency due to musc... ORPHA:597
Cap Myopathy
Central hypoventilation, Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, G... ORPHA:171881
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... ORPHA:98856
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dysphagia ORPHA:500180
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, S... ORPHA:3077
Fabry Disease
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Vent... OMIM:301500
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Patent ductus arteriosus, Bradycardia, Cerebral hemorrhage OMIM:617397
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Patent ductus arteriosus, Ventricular septal defect, Sinus bradycardia OMIM:126320
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Skeletal muscle atrophy, Abnormal peripheral nerve morphology by anatomical site, Abnormal periph... ORPHA:168563
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... ORPHA:137675
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Muscular Dystrophy, Duchenne Type
Hypoventilation, Calf muscle pseudohypertrophy, Respiratory insufficiency due to muscle weakness,... OMIM:310200
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Cachexia ORPHA:1933
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Abnormal myelination ORPHA:85179
Polyarteritis Nodosa
Pericarditis, Raynaud phenomenon, Weight loss, Cardiomyopathy, Hypertension ORPHA:767
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased number of peripheral myelinated nerve fibers, Decreased sensory nerve conduction veloci... OMIM:201300
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Restricti... OMIM:253700
Partial Atrioventricular Septal Defect
Atrial flutter, Bicuspid aortic valve, Angina pectoris, Coronary sinus enlargement, Partial atrio... ORPHA:1330
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Facial palsy, Demyelinating motor neuropathy, Optic at... OMIM:608804
Maternally-Inherited Diabetes And Deafness
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia ORPHA:225
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory... OMIM:265120
Huntington Disease-Like 2
Weight loss ORPHA:98934
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Optic atrophy, Apnea OMIM:261680
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
American Trypanosomiasis
Hepatomegaly, Aganglionic megacolon, Splenomegaly, Myocarditis, Congestive heart failure, Cardiom... ORPHA:3386
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Phacoanaphylactic Uveitis
Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo... ORPHA:209959
Symmetrical Thalamic Calcifications
Arrhythmia ORPHA:1314
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Torticollis, Tremor, Myelopathy, Cervical myelopathy, Bradypnea, Respiratory failure, Death in ch... OMIM:617186
Inflammatory Bowel Disease 11
Hematochezia, Weight loss OMIM:191390
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif... OMIM:610921
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Bicuspid aortic valve, Decreased nerve conduction velocity, Double out... OMIM:616652
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Umbilical hernia, Bradycardia ORPHA:226313
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Peripheral axonal neuropathy, Ne... ORPHA:276244
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough ORPHA:330012
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Decreased nerve conduction velocity, Optic atrophy, Demyelinating peripheral neuropathy OMIM:612674
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Tachycardia, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, ... OMIM:168000
Congenital Myopathy 21 With Early Respiratory Failure
EMG: myopathic abnormalities, Dyspnea, Respiratory failure, Nocturnal hypoventilation OMIM:620326
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Scapular winging, Generalized dystonia, Tremor, Optic atr... OMIM:614298
Necrotizing Enterocolitis
Shock, Bradycardia, Hypotension, Abnormal heart morphology ORPHA:391673
Acromicric Dysplasia
Decreased nerve conduction velocity ORPHA:969
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Lethal Congenital Contracture Syndrome 9
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Car... OMIM:616503
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Cachexia, Decreased number of large peripheral myelina... ORPHA:298
Pneumocystosis
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... ORPHA:723
Familial Thyroid Dyshormonogenesis
Macroglossia, Umbilical hernia, Bradycardia ORPHA:95716
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... OMIM:617228
Autosomal Recessive Spastic Paraplegia Type 25
Abnormality of peripheral nerve conduction ORPHA:101005
Axenfeld-Rieger Syndrome, Type 3
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... OMIM:602482
Cln5 Disease
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Dysmetria, Dysdiado... ORPHA:228360
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... ORPHA:99103
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Unilateral Ocular Duplication
Microcornea, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... ORPHA:1055
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... ORPHA:2414
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Linear Skin Defects With Multiple Congenital Anomalies 2
Optic disc pallor, Pulmonary arterial hypertension, Congenital diaphragmatic hernia OMIM:300887
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Myasthenic Syndrome, Congenital, 25, Presynaptic
Decreased compound muscle action potential amplitude OMIM:618323
Propionic Acidemia
Hepatomegaly, Arrhythmia, Cardiomyopathy ORPHA:35
Riboflavin Transporter Deficiency
Optic disc pallor, Facial palsy, Cachexia, Hypertension, Abnormal autonomic nervous system physio... ORPHA:97229
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Hydrocephalus, Congestive heart failure OMIM:269920
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Recurrent pneumonia, Flexion contracture, Skeletal mu... OMIM:613327
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Stridor, Respiratory failure, Paroxysmal dyspnea, Left ventricular hypertrophy, Right v... ORPHA:444013
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Onion bulb formation, Leukodystrophy, CNS hypomyelination OMIM:610532
Diencephalic Syndrome
Optic atrophy, Cachexia, Decreased body weight ORPHA:1672
Oculopharyngodistal Myopathy 4
Postural tremor, Autophagic vacuoles, Tremor, Fatty replacement of skeletal muscle, Increased var... OMIM:619790
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity, Leukodystrophy OMIM:619851
Infantile Krabbe Disease
Respiratory distress, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction ... ORPHA:206436
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Myopa... OMIM:212140
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly OMIM:600649
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Skeletal muscle hypertrophy, Card... OMIM:300280
Isolated Atp Synthase Deficiency
Hepatomegaly, Dilated cardiomyopathy, Optic atrophy, Arrhythmia, Hypertrophic cardiomyopathy ORPHA:254913
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... OMIM:610913
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Extraadrenal pheochromocytoma, Glomus jugular tumor, Adrenal pheochromocytoma, Chemo... OMIM:605373
Mitochondrial Complex I Deficiency, Nuclear Type 1
Optic disc pallor, Skeletal muscle atrophy, Cyanosis, Apnea, Death in infancy, Optic neuropathy, ... OMIM:252010
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Decreased nerve conduction velocity, Failure to thrive OMIM:618356
Cocaine Intoxication
Mydriasis ORPHA:90068
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Palpitations, Weight loss OMIM:188580
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Chronic Hiccup
Weight loss ORPHA:396
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Flexion contracture, Respiratory insufficiency, Proximal muscle weakness... OMIM:310440
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... ORPHA:99106
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract OMIM:619649
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... ORPHA:732
Al Amyloidosis
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal EKG, Abnormal cardiac ventricle morphology, J... ORPHA:85443
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hypoxemia... ORPHA:36238
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia, Skeletal muscle atrophy OMIM:619272
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... ORPHA:99095
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:162400
Acute Interstitial Pneumonia
Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato... ORPHA:79126
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Rhabdomyolysis, Hypertension, Bradycardia, Hypotension, Abnormal... ORPHA:94093
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Decreased distal sensory nerve action potential OMIM:618400
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Myopathy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death OMIM:614922
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... ORPHA:91359
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v... OMIM:616501
Neuroendocrine Tumor Of The Colon
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Wei... ORPHA:100080
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Short Syndrome
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... ORPHA:3163
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Abnormal atrioventricular conduction, Weight loss, Abnormal left ve... ORPHA:3208
Scheie Syndrome
Aortic regurgitation, Abnormal nerve conduction velocity ORPHA:93474
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Bradycardia OMIM:610768
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure, Generalized dystonia ORPHA:70472
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Respiratory failure OMIM:620166
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Cerebral dysmyelination, Portal hyper... OMIM:609136
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Abnormal upper motor neuron m... ORPHA:35689
Friedreich Ataxia
Abnormal EKG, Congestive heart failure, Optic atrophy, Hypertrophic cardiomyopathy, Decreased sen... OMIM:229300
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Oculopalatocerebral Syndrome
Leukocoria OMIM:257910
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure OMIM:619386
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Decreased nerve conduction velocity ORPHA:435387
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure, Optic atrophy ORPHA:2707
Metatropic Dysplasia
Peripheral axonal neuropathy, Flexion contracture, Respiratory insufficiency, Respiratory failure... OMIM:156530
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration ORPHA:2004
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Axonal degeneration, Abnormal sensory nerve conduction velocity, Camptodactyly, Abnormal peripher... ORPHA:88628
Refsum Disease, Classic
Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Arrhythmia OMIM:266500
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Failure t... OMIM:619026
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity OMIM:618138
Scorpion Envenomation
Miosis, Mydriasis ORPHA:466677
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Abnormal CNS... ORPHA:206443
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Telangiectasia, Cardiomyopath... OMIM:235200
Ataxia-Pancytopenia Syndrome
Decreased nerve conduction velocity OMIM:159550
Craniotubular Dysplasia, Ikegawa Type
Mydriasis OMIM:619727
Juvenile Amyotrophic Lateral Sclerosis
Axial dystonia, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Muscle fiber atrophy, Hea... ORPHA:300605
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy, Acrocyanosis ORPHA:2400
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Abnormality of peripheral nerve conduction ORPHA:48431
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... ORPHA:1686
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Demyelinating sensory neuropathy, Optic nerve hypoplasia, De... ORPHA:101085
Polyvalvular Heart Disease Syndrome
Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve prolapse, Pulmonic stenosi... ORPHA:228410
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Scapular winging, Dyspnea, Rhabdomyolysis, Cardiorespiratory arrest, Res... ORPHA:26791
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased nerve conduction velocity, Failure to thrive OMIM:238970
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Optic atrophy, Choreoathetosis, Athetosis, ... ORPHA:506
Congenital Toxoplasmosis
Hepatomegaly, Hydrocephalus, Cardiomegaly ORPHA:858
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Amyloidosis, Hereditary, Transthyretin-Related
Peripheral axonal neuropathy, Cardiomegaly, Cardiomyopathy, Abnormal autonomic nervous system phy... OMIM:105210
Allergic Bronchopulmonary Aspergillosis
Pulmonary arterial hypertension, Weight loss ORPHA:1164
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria... OMIM:618652
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Graves Disease, Susceptibility To, 1
Congestive heart failure, Weight loss OMIM:275000
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Ventricular septal defect, Flexion contracture, Retinal hemorrhage, Hypertension, Br... OMIM:614653
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Axenfeld-Rieger Syndrome, Type 1
Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal... OMIM:180500
Japanese Encephalitis
Decreased motor nerve conduction velocity, Hyperintensity of MRI T2 signal of the spinal cord, Re... ORPHA:79139
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... OMIM:608647
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
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Respiratory failure, Stillbirth OMIM:276950
Familial Isolated Restrictive Cardiomyopathy
Hepatomegaly, Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventric... ORPHA:75249
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Arrhythmia ORPHA:1808
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction OMIM:253250
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Mulibrey Nanism
Cachexia ORPHA:2576
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly OMIM:619064
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Respiratory failure, Flexion contracture, Camptodactyly of finger ORPHA:1194
Breath-Holding Spells
Cyanosis OMIM:607578
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... OMIM:610910
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Abnormal myelination ORPHA:352682
Bohring-Opitz Syndrome
Facial hypotonia, Cardiomegaly, Optic atrophy, Bilateral wrist flexion contracture, Congenital co... ORPHA:97297
Aortic Aneurysm, Familial Thoracic 6
Iris flocculi OMIM:611788
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Limb joint contracture, Cyanotic episode, Ankle flexion contracture, Knee flexion contracture ORPHA:284417
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Cerebral hemorrhage, Congestive he... ORPHA:276621
Rhabdoid Tumor
Hypertension, Internal hemorrhage, Weight loss ORPHA:69077
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cutaneous photosensitivity, Telangiectasia of the skin, Congenital diaphragmatic hernia, Retinal ... ORPHA:438134
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Combined Oxidative Phosphorylation Deficiency 24
Skeletal muscle atrophy, Ragged-red muscle fibers, Optic atrophy, Myopathy, Gliosis, Weakness of ... OMIM:616239
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... OMIM:620067
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:302800
Muscular Dystrophy, Congenital, Megaconial Type
Myopathy, Increased endomysial connective tissue, Facial palsy, Muscular dystrophy OMIM:602541
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Respiratory failure, Arthrogryposis multiplex congenita OMIM:607598
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology ORPHA:139578
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Opisthotonus, Death in childhood, Respiratory failure, Gliosis, Limb dystonia OMIM:619847
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Distal arthrogryposis, Arrhythmia ORPHA:42
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Facial palsy, Limb muscle weakness, Left bundle branch block, Arrhythmia, Ventricular bigeminy OMIM:610131
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity OMIM:613724
Bone Dysplasia, Lethal Holmgren Type
Atrial septal defect, Hypertrophic cardiomyopathy, Failure to thrive, Weight loss ORPHA:1842
Oculopharyngodistal Myopathy 1
Respiratory distress, Autophagic vacuoles, Facial palsy, Hypercapnia, Tremor, Reduced forced vita... OMIM:164310
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Foot dorsiflexor weakness, Hypercapnia, Hypoplasia of the musculature, Respirato... ORPHA:2020
Posterior Column Ataxia With Retinitis Pigmentosa
Achalasia, Decreased sensory nerve conduction velocity, Optic atrophy, Peripheral demyelination OMIM:609033
Myasthenia Gravis
Fatigable weakness, Facial palsy OMIM:254200
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Cardiomyopathy ORPHA:3222
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral hypomyelination, Peripheral demyelination OMIM:604168
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Type 2 muscle fiber atrophy, Pulmonary arterial hypertension, Respiratory failure, Respiratory in... OMIM:613845
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... ORPHA:555874
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, Severe demyelination of the white matter, Optic atroph... ORPHA:1187
Congenital Fibrinogen Deficiency
Cyanosis, Opisthotonus, Left ventricular hypertrophy, Bruising susceptibility, Subcutaneous hemor... ORPHA:335
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis, Vasculitis in the ... OMIM:620296
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology OMIM:243000
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Skeletal muscle atrophy, Cardiomegaly, Hepatosplenomegaly,... OMIM:268800
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
EEG with multifocal slow activity, Small for gestational age, Abnormal myelination ORPHA:289266
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Liddle Syndrome
Hypertension, Arrhythmia, Cerebral ischemia ORPHA:526
Hemochromatosis, Type 4
Hepatomegaly, Arrhythmia, Cardiomyopathy OMIM:606069
Bronchial Neuroendocrine Tumor
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Wei... ORPHA:97287
Niemann-Pick Disease, Type C2
Death in infancy, Neonatal respiratory distress, Jaundice, Respiratory insufficiency, Death in ch... OMIM:607625
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Hurler Syndrome
Abnormal heart valve morphology, Angina pectoris, Cardiomyopathy, Hypertension, Endocardial fibro... ORPHA:93473
Bethlem Myopathy
Hypoventilation, Reduced maximal expiratory pressure, Multiple joint contractures, Reduced muscle... ORPHA:610
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Neonatal Lupus Erythematosus
Prolonged QT interval, Hepatomegaly, Heart block, Splenomegaly, Hydrocephalus, Dilated cardiomyop... ORPHA:398124
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Eosinophilic Fasciitis
Myositis, Abnormal eosinophil morphology, Eosinophilia, Muscular edema, Acrocyanosis ORPHA:3165
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Respiratory failure, Opisthotonus OMIM:610678
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level ORPHA:70578
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Decreased nerve conduction velocity, Knee flexion contracture, Wrist flexio... OMIM:618733
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials OMIM:616688
Huntington Disease-Like 1
Abnormal posturing, Gliosis ORPHA:157941
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:270550
Dk1-Cdg
Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac... ORPHA:91131
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Exercise-induced rhabdomyolysis, Sudden cardiac death, Cardiomegaly, Reduced left v... OMIM:201475
Cutis Marmorata Telangiectatica Congenita
Leukocoria OMIM:219250
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia, Weight loss OMIM:613239
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re... OMIM:610042
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity OMIM:615490
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Splenomegaly, Cardiomyopathy OMIM:256550
Cap Polyposis
Hematochezia, Weight loss ORPHA:160148
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Bradycardia ORPHA:91355
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Exaggerated startle response, Limb joint contracture, Tremor, Respiratory failure, Limb hypertonia OMIM:620327
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Nephroblastoma
Hypertension, Weight loss ORPHA:654
Idiopathic Bronchiectasis
Cachexia, Myocardial infarction ORPHA:60033
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress ORPHA:464453
Yao Syndrome
Ventricular hypertrophy, Pericarditis, Weight loss OMIM:617321
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis, Opisthotonus OMIM:250800
Systemic Capillary Leak Syndrome
Pericarditis, Myocarditis, Weight loss, Hypotension, Arrhythmia ORPHA:188
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Optic atrophy, Respiratory insufficiency OMIM:618329
Von Hippel-Lindau Disease
Papilledema, Pancreatic islet cell adenoma, Myocardial infarction, Myocarditis, Pancreatic endocr... ORPHA:892
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... ORPHA:363705
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... OMIM:224700
Laryngeal Abductor Paralysis
Stridor, Cyanosis OMIM:150260
Spastic Paraplegia 17, Autosomal Dominant
Decreased motor nerve conduction velocity OMIM:270685
Huntington Disease-Like 2
Weight loss OMIM:606438
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Tachycardia, Epistaxis, Diffuse alveolar hemorrhage, Hematemesis, Myocarditi... ORPHA:99827
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Skeletal muscle atrophy, Sudden cardiac death, Arrhythmia, Hypertrophic cardiomyopathy ORPHA:156
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity OMIM:118300
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Arrhythmia, Optic atrophy, Cerebral ischemia ORPHA:60040
Moynahan Syndrome
Cachexia ORPHA:2574
Lujo Hemorrhagic Fever
Shock, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotension ORPHA:319213
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Respiratory insufficiency ORPHA:93941
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Spinal Muscular Atrophy, X-Linked 2
Decreased compound muscle action potential amplitude, Facial palsy OMIM:301830
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Increased variability in muscle fiber diameter, Respiratory failure, Hydrocephalus, Muscular dyst... OMIM:616538
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Hydrocephalus, Respiratory failure, Neonatal death, Palmopla... OMIM:616482
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology, Resting tremor, Generalized amyotrophy OMIM:601162
Hirschsprung Disease
Aganglionic megacolon, Failure to thrive in infancy, Weight loss ORPHA:388
Tetrasomy 5P
Respiratory distress, Cyanosis, Hydrocephalus, Aplasia/Hypoplasia of the abdominal wall musculatu... ORPHA:3309
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... OMIM:232300
Proteus-Like Syndrome
Limbal dermoid, Abnormal pupil morphology, Cataract, Heterochromia iridis ORPHA:2969
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Arrhythmia, Cardiomegaly OMIM:255120
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy OMIM:617713
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Neurodegeneration With Brain Iron Accumulation 2A
Decreased nerve conduction velocity, Optic atrophy OMIM:256600
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h... OMIM:239850
Congenital Tracheomalacia
Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co... ORPHA:95430
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Abnormal hemidiaphragm morphology... ORPHA:980
Carnitine-Acylcarnitine Translocase Deficiency
Rhabdomyolysis, Cyanosis, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Optic atrophy OMIM:615419
Multifocal Motor Neuropathy
Motor conduction block ORPHA:641
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Neonatal respiratory distress, Apnea, Increased muscle lipid content, Elbow fle... OMIM:608836
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Resting tremor, Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, ... OMIM:157640
Polycythemia Vera
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... ORPHA:729
Immunodeficiency 54
Respiratory failure, Respiratory insufficiency OMIM:609981
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Hypsarrhythmia, EEG abnorm... ORPHA:485421
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2759
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Weight loss ORPHA:103910
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Sialidosis Type 1
Decreased nerve conduction velocity, EEG abnormality ORPHA:812
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Productive cough, Wheezing, Hydrocephalus, Bronchiectasis, Respira... ORPHA:244
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Optic Atrophy 11
Delayed CNS myelination, Optic nerve hypoplasia, Optic atrophy, EEG with focal sharp waves, Facia... OMIM:617302
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Failure to thrive in infancy, Arrhythmia, Weight loss ORPHA:171876
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Titubation, Dystonia, Abnormal posturing, Hypomimic face ORPHA:225147
Alg1-Cdg
Respiratory failure ORPHA:79327
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea, Opisthotonus, Choreoathetosis, Limb hypertonia OMIM:619580
Encephalitis Lethargica
Upper limb muscle weakness, Bradycardia ORPHA:83600
Tricuspid Atresia
Cyanosis ORPHA:1209
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Shortened PR interval, Obesity, Weight loss, Impaired myocardial contracti... ORPHA:79102
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Telangiectasia of the skin, Abnormal pericardium morphology, Myocard... ORPHA:679
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten... ORPHA:308552
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Scedosporiosis
Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory... ORPHA:449280
Unilateral Polymicrogyria
Cyanosis, Apnea, Epistaxis, Abnormal posturing, Giant somatosensory evoked potentials ORPHA:268943
Mitochondrial Trifunctional Protein Deficiency 1
Myopathy, Respiratory failure, Rhabdomyolysis, Respiratory insufficiency OMIM:609015
Idiopathic Pulmonary Hemosiderosis
Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough ORPHA:99931
Aicardi-Goutieres Syndrome 9
Pericarditis, Delayed CNS myelination, Portal hypertension, Pericardial effusion, Optic atrophy, ... OMIM:619487
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hepatomegaly, Tachycardia, Exercise-induced rhabdomyolysis, Ventricular se... ORPHA:26793
Eosinophilic Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium morphology, ... ORPHA:183
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... ORPHA:1457
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology ORPHA:3068
Mercury Poisoning
Respiratory distress, Tremor, Dyspnea, Respiratory failure, Interstitial pneumonitis, Dystonia ORPHA:330021
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Neuroendocrine Tumor Of Stomach
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Hem... ORPHA:100075
Sandestig-Stefanova Syndrome
Respiratory failure, Camptodactyly OMIM:618804
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination OMIM:250100
Congenital Diaphragmatic Hernia
Hypoxemia, Aplasia/Hypoplasia of the diaphragm, Respiratory distress, Congenital diaphragmatic he... ORPHA:2140
Plague
Conjunctival hyperemia, Mydriasis ORPHA:707
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity OMIM:614436
Oculoauricular Syndrome
Cataract, Sclerocornea, Chorioretinal atrophy, Developmental cataract, Microcornea, Iris cyst, Po... OMIM:612109
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Abnormal posturing, Tachypnea OMIM:614857
Ethylene Glycol Poisoning
Cyanosis, Facial palsy, Episodic respiratory distress, Tachypnea, Abnormal pattern of respiration ORPHA:31826
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Mogs-Cdg
Absent brainstem auditory responses, Hepatomegaly, Cardiomegaly, Optic atrophy, Hepatosplenomegal... ORPHA:79330
Mitochondrial Trifunctional Protein Deficiency
Rhabdomyolysis, Respiratory insufficiency, Skeletal myopathy, Respiratory failure, Left ventricul... ORPHA:746
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO ORPHA:747
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Sepsis In Premature Infants
Tachycardia, Bradycardia, Hypotension ORPHA:90051
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Neonatal respiratory distress, Peripheral axonal neuropathy, Spinal muscular atrophy, Flexion con... OMIM:616866
Glycogen Storage Disease Due To Aldolase A Deficiency
Exercise-induced rhabdomyolysis, Decreased muscle mass, EMG: myopathic abnormalities, Viral infec... ORPHA:57
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Decreased muscle mass, Portal hypertension, Cardiomegaly, Splenomegaly, Congestive ... ORPHA:465508
Late-Onset Retinal Degeneration
Iris atrophy, Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretin... ORPHA:67042
Central Diabetes Insipidus
Failure to thrive, Weight loss ORPHA:178029
Erythrokeratodermia Variabilis
Weight loss ORPHA:317
Charcot-Marie-Tooth Disease Type 1E
Anisocoria, Tonic pupil, Abnormal pupil morphology, Slow pupillary light response ORPHA:90658
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Apnea, Dyspnea, Optic atrophy, Megalopapilla, Respiratory... OMIM:615636
Cockayne Syndrome B
Failure to thrive, Small for gestational age, Abnormal peripheral myelination, Abnormal auditory ... OMIM:133540
Choanal Atresia
Respiratory distress, Cyanosis, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abno... ORPHA:137914
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Rheumatic Fever
Pericarditis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Aplasia/Hypoplasia of the ... ORPHA:3099
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cardiac arrest, Splenomegaly, Arrhythmia ORPHA:99745
Hypothyroidism Due To Tsh Receptor Mutations
Macroglossia, Umbilical hernia, Bradycardia ORPHA:90673
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia OMIM:616949
Dravet Syndrome
Cyanotic episode, Action tremor ORPHA:33069
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated... OMIM:614921
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Skeletal muscle atrophy, Mitral valve prolapse, Arrhythmia, Spina bi... ORPHA:230839
Autosomal Dominant Progressive External Ophthalmoplegia
Peripheral axonal neuropathy, Atrial fibrillation, Facial palsy, Quadriceps muscle weakness, Dila... ORPHA:254892
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Optic atrophy, Orthostatic hypotension due to autonomic dysf... ORPHA:309271
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Familial Aortic Dissection
Aortic regurgitation, Patent ductus arteriosus, Abnormal left ventricular function, Cardiomegaly ORPHA:229
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Congenital Fibrosis Of Extraocular Muscles
Cataract, Miosis, Anisocoria, Abnormal pupil shape, Slow pupillary light response ORPHA:45358
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Giant Cell Arteritis
Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Optic atrophy, Cerebral ischemia, Arrh... ORPHA:397
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Angina pectoris, Splenomegaly, Increased muscle lipid content, Abnormality of the c... ORPHA:565612
Fabry Disease
Abnormal endocardium morphology, Conjunctival telangiectasia, Bundle branch block, Angina pectori... ORPHA:324
8P23.1 Microdeletion Syndrome
Tetralogy of Fallot, Obesity, Weight loss, Abnormal cardiac septum morphology, Hypoplastic left h... ORPHA:251071
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Heart... ORPHA:275766
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, EEG with multifocal slow activity, Hypsarrhythmia, Abnormal myelination, Failure t... ORPHA:442835
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Bruising susceptibility ORPHA:3226
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Tachycardia, Extraadrenal pheochromocytoma, Adrenal pheochromocyt... OMIM:115310
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Pheochromocyto... OMIM:171420
Xeroderma Pigmentosum, Complementation Group B
Decreased nerve conduction velocity, Abnormal CNS myelination, Optic atrophy OMIM:610651
Duane Retraction Syndrome
Central heterochromia, Abnormal pupil morphology, Microcornea, Hypoplastic iris stroma, Chorioret... ORPHA:233
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Arrhythmia, Mildly reduced left ventricular ejection fraction OMIM:618098
Rheumatoid Arthritis
Vasculitis, Weight loss OMIM:180300
Neuroblastoma, Susceptibility To, 1
Hypertension, Failure to thrive, Horner syndrome, Weight loss OMIM:256700
Poems Syndrome
Papilledema, Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pu... ORPHA:2905
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Hydrocephalus, Joint contracture of the hand, Abnormal muscle fiber morphology OMIM:175700
Familial Dysautonomia
Abnormal pupil morphology, Heterochromia iridis, Corneal erosion, Corneal opacity ORPHA:1764
Follicular Lymphoma
Weight loss ORPHA:545
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Optic atrophy, Leukodystrophy ORPHA:309256
Halperin-Birk Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Optic atrophy, Death in childhood, Aspirati... OMIM:618651
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Buerger Disease
Acrocyanosis ORPHA:36258
Focal Myositis
Weight loss ORPHA:48918
Rett Syndrome
Abnormal T-wave, Prolonged QTc interval, Cachexia, EEG abnormality OMIM:312750
Alexander Disease Type I
Failure to thrive, Cachexia ORPHA:363717
Pulmonary Alveolar Microlithiasis
Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:60025
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Optic atrophy, Hypertension, Failure to thrive, Abnormality ... ORPHA:90321
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure ORPHA:542323
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Facial hypotonia, Glycogen accumulation in muscle fiber lysosome... ORPHA:365
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Tremor, Jaundice, Hypopnea, Respiratory failure, Dystonia, Neonatal deat... OMIM:617248
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of peripheral somatosensory evoked potentials, Decreased distal sensory nerve action ... ORPHA:466768
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Optic atrophy, Leukodystrophy ORPHA:309263
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity ORPHA:397744
Subaortic Stenosis-Short Stature Syndrome
Arrhythmia, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis ORPHA:3191
Mast Cell Sarcoma
Weight loss ORPHA:66661
Hydrops Fetalis
Pericardial effusion, Arrhythmia, Capillary leak, Abnormal heart morphology ORPHA:1041
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Optic nerve hypoplasia, Macroglossia, Bradycardia ORPHA:226307
Juvenile Glaucoma
Abnormal anterior chamber morphology, Abnormality iris morphology ORPHA:98977
Infantile Neuroaxonal Dystrophy
Optic atrophy, Abnormal autonomic nervous system physiology, Abnormality of peripheral nerve cond... ORPHA:35069
Combined Oxidative Phosphorylation Deficiency 39
Flexion contracture, Sinus bradycardia, Congenital contracture, Arthrogryposis multiplex congenit... OMIM:618397
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Hepatomegaly, Rhabdomyolysis, Cardiomyopathy, Myopathy, Arrhythmia ORPHA:228305
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension, Cardiomegaly OMIM:613320
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmonary arteri... ORPHA:2038
Cockayne Syndrome A
Failure to thrive, Abnormal peripheral myelination, Abnormal auditory evoked potentials, Decrease... OMIM:216400
Alagille Syndrome
Keratoconus, Abnormal pupil morphology, Corneal dystrophy ORPHA:52
Pulmonary Capillary Hemangiomatosis
Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple... ORPHA:199241
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Flexion contracture, Ventricular septal defect, Cardiomegaly OMIM:616897
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure, Muscular dystrophy ORPHA:88618
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Respiratory insufficiency, Knee flexion contracture, Weakness of facial musculature OMIM:617239
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia OMIM:614100
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microcornea, Ectopia pupillae, Cataract, Sclerocornea OMIM:615877
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Acute rhabdomyolysis, Optic atrophy, EMG: myopathic abnormal... ORPHA:480864
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Congenital diaphragmatic hernia, Respiratory insufficiency, Spina bifida ORPHA:1120
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:96
Renal Nutcracker Syndrome
Orthostatic hypotension, Tachycardia, Weight loss, Syncope, Abnormal autonomic nervous system phy... ORPHA:71273
Thrombotic Thrombocytopenic Purpura
Arrhythmia, Myocardial infarction ORPHA:54057
Congenital Muscular Dystrophy With Cerebellar Involvement
Megalocornea, Cataract, Abnormality iris morphology ORPHA:370959
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Raynaud phenomenon, Congestive ... ORPHA:91139
Boutonneuse Fever
Respiratory failure, Petechiae ORPHA:83313
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... OMIM:302060
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Familial Thrombocytosis
Transient ischemic attack, Weight loss, Syncope, Cerebral ischemia, Pulmonary arterial hypertension ORPHA:71493
3-Methylglutaconic Aciduria Type 7
Choreoathetosis, Respiratory failure, Pneumothorax, Opisthotonus ORPHA:445038
Histidinemia
Hyperactivity ORPHA:2157
Schisis Association
Encephalocele, Congenital diaphragmatic hernia, Anencephaly, Spina bifida ORPHA:63862
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Weight loss, Palpitations, Hyp... ORPHA:100078
Isolated Thyroid-Stimulating Hormone Deficiency
Macroglossia, Umbilical hernia, Bradycardia ORPHA:90674
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Choreoathetosis... ORPHA:209905
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Cranial nerve compression, Weight loss, Palpitatio... ORPHA:29072
Gm1 Gangliosidosis
Ventricular septal defect, Congestive heart failure, Optic atrophy, Abnormal heart morphology, We... ORPHA:354
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure OMIM:617895
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o... ORPHA:93672
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Agel Amyloidosis
Cardiomyopathy, Arrhythmia, Facial palsy, Orthostatic hypotension due to autonomic dysfunction ORPHA:85448
Spontaneous Periodic Hypothermia
Arrhythmia ORPHA:29822
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Diastasis recti, Flexion contracture, Macroglossia, Respiratory failure, Camptodactyly, Flexion c... ORPHA:254528
Pfapa Syndrome
Weight loss ORPHA:42642
Waardenburg Syndrome Type 3
Tracheomalacia, Acrocyanosis, Camptodactyly of finger ORPHA:896
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... ORPHA:3427
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Abnormal pericardium morphology, Congestive heart failure, Weight loss ORPHA:67
Spinocerebellar Ataxia 10
Decreased nerve conduction velocity OMIM:603516
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... OMIM:123320
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased number of large peripheral myelinated nerve fibers, Orthostatic hypotension, Acrocyanos... OMIM:223900
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Petechiae OMIM:602473
Pagod Syndrome
Encephalocele, Sudden cardiac death, Spina bifida, Situs inversus totalis, Congenital diaphragmat... ORPHA:991
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Opisthotonus ORPHA:3304
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... OMIM:306955
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Ectopia pupillae, Astigmatism, Cataract OMIM:618727
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Myasthenia, Limb-Girdle, Autoimmune
Fatigable weakness OMIM:159400
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage, Cardiomegaly OMIM:618886
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Hypokalemic Periodic Paralysis
Respiratory paralysis, Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology ORPHA:681
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Respiratory failure ORPHA:1861
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Decreased sensory ne... OMIM:164400
Tarp Syndrome
Cyanosis, Optic atrophy, Apnea ORPHA:2886
Marburg Hemorrhagic Fever
Shock, Tachycardia, Pericarditis, Hypovolemia, Capillary leak, Subconjunctival hemorrhage, Bradyc... ORPHA:99826
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis,... OMIM:617877
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension OMIM:208000
Noonan Syndrome 5
Atrial septal defect, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis OMIM:611553
Flynn-Aird Syndrome
EEG abnormality, Cachexia ORPHA:2047
Mcdonough Syndrome
Cachexia ORPHA:2471
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... ORPHA:99094
Nephronophthisis 11
Anisocoria OMIM:613550
Aggressive Systemic Mastocytosis
Hypotension, Gastrointestinal hemorrhage, Portal hypertension, Weight loss ORPHA:98850
Spinocerebellar Ataxia, Autosomal Recessive 33
Arrhythmia OMIM:620208
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... OMIM:231005
Cerebrotendinous Xanthomatosis
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... ORPHA:909
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Peripheral axonal neuropathy, Skeletal muscle... ORPHA:273
Huntington Disease
Decreased body mass index, Weight loss ORPHA:399
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Camptodactyly... ORPHA:158687
Chromosome 2Q37 Deletion Syndrome
Arrhythmia, Subvalvular aortic stenosis OMIM:600430
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia OMIM:261990
Megalocornea-Intellectual Disability Syndrome
Iridodonesis, Hypoplasia of the iris, Astigmatism, Megalocornea, Abnormal anterior chamber morpho... ORPHA:2479
Friedreich Ataxia 2
Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Muscular subvalvu... OMIM:601992
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Weight loss ORPHA:411703
Mucopolysaccharidosis Type 2
Papilledema, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Decreased nerv... ORPHA:580
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Cataract, Peters anomaly, Persistent pupillary membrane OMIM:613150
1Q41Q42 Microdeletion Syndrome
Abnormality iris morphology ORPHA:250999
Heart-Hand Syndrome Type 2
Arrhythmia ORPHA:1350
Meckel Syndrome 14
Occipital encephalocele, Cyanosis, Pneumothorax, Cardiorespiratory arrest, Holoprosencephaly OMIM:619879
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Heart block, Hydrocephalus, Cardiomyopathy, Abnormal myocardium morph... ORPHA:228308
Beck-Fahrner Syndrome
Facial hypotonia, Ventricular septal defect, Cardiomegaly OMIM:618798
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Cockayne Syndrome Type 3
Optic disc pallor, Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Increased blood press... ORPHA:90324
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Monosomy 18Q
Abnormal myelination, Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal... ORPHA:1600
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Oculodentodigital Dysplasia, Autosomal Recessive
Microcornea, Cataract, Persistent pupillary membrane OMIM:257850
Autosomal Recessive Spastic Paraplegia Type 55
Decreased sensory nerve conduction velocity, Optic atrophy, Onion bulb formation, Optic neuropathy ORPHA:320375
Christianson Syndrome
Cachexia ORPHA:85278
D-Bifunctional Protein Deficiency
Decreased nerve conduction velocity, Failure to thrive, Cerebral dysmyelination OMIM:261515
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Leiomyosarcoma, Hypertension, Pheochromocytoma, Paragan... ORPHA:139411
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Flexion contracture, Optic atrophy, Muscular dystrophy, Increased endomysial conne... OMIM:613154
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... OMIM:618426
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ... ORPHA:500
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy OMIM:601152
Listeriosis
Respiratory distress, Miscarriage, Pneumonia, Tremor, Jaundice, Rhabdomyolysis, Respiratory failure ORPHA:533
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Splenomegaly, Hydrocephalus, Flexion contracture, Optic atrophy, Atri... ORPHA:581
Aicardi-Goutieres Syndrome 1
Dystonia, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura OMIM:225750
Ménétrier Disease
Gastrointestinal hemorrhage, Weight loss ORPHA:2494
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Skeletal muscle hypertrop... ORPHA:682
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia OMIM:616801
Riddle Syndrome
Conjunctival telangiectasia, Pneumonia, Neonatal asphyxia, Erythema, Recurrent pneumonia, Telangi... ORPHA:420741
Eosinophilic Gastroenteritis
Hematochezia, Weight loss ORPHA:2070
Pierson Syndrome
Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris... OMIM:609049
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Failure to thrive, Facial palsy, EEG abnormality, Decr... ORPHA:456312
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... OMIM:601552
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Elb... OMIM:602782
3-Hydroxy-3-Methylglutaric Aciduria
Cardiac arrest, Dilated cardiomyopathy, Hypsarrhythmia, Weight loss, EEG abnormality, Hypotension ORPHA:20
Friedreich Ataxia
Decreased motor nerve conduction velocity, Cardiomyopathy, Optic atrophy ORPHA:95
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials OMIM:256840
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... ORPHA:70591
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Weight loss ORPHA:97286
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Cardiac arrest, Weight loss ORPHA:139402
Familial Isolated Hypoparathyroidism
Myopathy, Arrhythmia ORPHA:2238
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Vasculitis, Weight loss ORPHA:324964
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Camptodactyly of finger, Optic atrophy, Hypotension, Arrhythmia ORPHA:2135
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Costello Syndrome
Rhabdomyosarcoma, Achilles tendon contracture, Pneumothorax, Hydrocephalus, Respiratory insuffici... OMIM:218040
Fatal Familial Insomnia
Abnormal autonomic nervous system physiology, Weight loss OMIM:600072
Diffuse Alveolar Hemorrhage
Pulmonary venous hypertension, Weight loss ORPHA:90060
Sandifer Syndrome
Torticollis, Abnormal posturing ORPHA:71272
Familial Glucocorticoid Deficiency
Hypertrophic cardiomyopathy, Failure to thrive, Hypotension, Weight loss ORPHA:361
Adrenocortical Carcinoma
Hypertension, Increased body weight, Palpitations, Weight loss ORPHA:1501
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Autosomal Dominant Hypocalcemia
Congestive heart failure, Arrhythmia, Optic atrophy, Hypotension ORPHA:428
Immunodeficiency 27A
Weight loss OMIM:209950
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Dyspnea, Cardiores... ORPHA:3342
Kearns-Sayre Syndrome
Cardiomyopathy, Arrhythmia, Ragged-red muscle fibers, Third degree atrioventricular block OMIM:530000
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Cachexia ORPHA:1438
Singleton-Merten Syndrome 2
Aortic valve calcification, Aortic valve stenosis, Arrhythmia OMIM:616298
Charcot-Marie-Tooth Disease Type 4C
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... ORPHA:99949
Liposarcoma
Weight loss ORPHA:69078
Peroxisome Biogenesis Disorder 4A (Zellweger)
Death in infancy, Respiratory failure OMIM:614862
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Cardiorespiratory arrest, Abnormal au... ORPHA:293987
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Hyperoxaluria, Primary, Type I
Cutis marmorata, Acrocyanosis, Optic atrophy, Optic neuropathy OMIM:259900
Osteosarcoma
Weight loss ORPHA:668
Bullous Pemphigoid
Weight loss ORPHA:703
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Arth... ORPHA:254346
Chediak-Higashi Syndrome
Decreased nerve conduction velocity, Spontaneous, recurrent epistaxis OMIM:214500
Whipple Disease
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Cachexia, Myocarditis, Hypotension ORPHA:3452
Thymic Carcinoma
Weight loss ORPHA:99868
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity OMIM:616192
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly ... ORPHA:217085
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Decreased compound muscle action potential amplitude OMIM:620080
Mucolipidosis Type Ii
Aortic regurgitation, Abnormal atrioventricular valve physiology, Abnormal mitral valve morpholog... ORPHA:576
Achalasia-Addisonianism-Alacrima Syndrome
Anisocoria OMIM:231550
Primary Hepatic Neuroendocrine Carcinoma
Right ventricular failure, Heart murmur, Weight loss, Palpitations, Facial telangiectasia ORPHA:100085
Felty Syndrome
Pericarditis, Weight loss ORPHA:47612
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, EEG abnormality, Cachexia ORPHA:371364
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Weight loss ORPHA:131
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Double Outlet Right Ventricle
Cyanosis, Tachypnea ORPHA:3426
Renpenning Syndrome
Cachexia ORPHA:3242
Cockayne Syndrome
Optic disc pallor, Cerebral dysmyelination, Cachexia, Decreased nerve conduction velocity, Optic ... ORPHA:191
Classic Hodgkin Lymphoma
Weight loss ORPHA:391
Collagenoma, Familial Cutaneous
Iris atrophy OMIM:115250
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly ... ORPHA:217093
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Death in infancy, Flexion contracture, Elbow flexion contracture, Knee flexion c... OMIM:300868
Q Fever
Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, Vasculitis, End... ORPHA:781
Revesz Syndrome
Megalocornea, Leukocoria OMIM:268130
Fucosidosis
Decreased muscle mass, Acrocyanosis, Vascular skin abnormality ORPHA:349
Hereditary Sensory And Autonomic Neuropathy Type 1
Abnormality of the autonomic nervous system, Decreased amplitude of sensory action potentials ORPHA:36386
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:585
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Ogden Syndrome
Cardiogenic shock, Arrhythmia, Ventricular septal defect, Torticollis ORPHA:276432
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Astrocytosis ORPHA:100070
Lymphoid Interstitial Pneumonia
Raynaud phenomenon, Failure to thrive, Pulmonary venous hypertension, Weight loss ORPHA:79128
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Cantú Syndrome
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Imerslund-Gräsbeck Syndrome
Tachycardia, Failure to thrive, Weight loss ORPHA:35858
Pericardial And Diaphragmatic Defect
Hypoxemia, Neonatal respiratory distress, Aplasia of the left hemidiaphragm, Congenital diaphragm... ORPHA:2847
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia ORPHA:1867
Niemann-Pick Disease Type C
Axial dystonia, Dystonia, Tremor, Jaundice, Aplasia/Hypoplasia of the abdominal wall musculature,... ORPHA:646
Leptospirosis
Papilledema, Pericarditis, Hepatomegaly, First degree atrioventricular block, Rhabdomyolysis, Ret... ORPHA:509
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria ORPHA:2714
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, ... ORPHA:91387
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Arrhythmia, Camptodactyly of finger ORPHA:3201
X-Linked Agammaglobulinemia
Failure to thrive, Weight loss ORPHA:47
Hypothyroidism, Congenital, Nongoitrous, 2
Macroglossia, Umbilical hernia, Bradycardia OMIM:218700
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Yellow Fever
Shock, Supraventricular arrhythmia, Hematemesis, Capillary leak, Reduced left ventricular ejectio... ORPHA:99829
Mitochondrial Complex I Deficiency, Nuclear Type 32
Skeletal muscle atrophy, Respiratory failure, Death in childhood OMIM:618252
Chronic Beryllium Disease
Weight loss ORPHA:133
Neuhauser Syndrome
Hypoplasia of the iris, Iridodonesis, Megalocornea OMIM:249310
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Increased v... OMIM:617022
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Spinal arteriovenous malformation, Palate tel... OMIM:187300
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Decreased motor nerve conduction velocity OMIM:613640
Myasthenia Gravis
Dyspnea, Myositis, Acrocyanosis ORPHA:589
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Bradycardia ORPHA:79404
Knobloch Syndrome 1
Band keratopathy, Chorioretinal atrophy, Developmental cataract, Iris transillumination defect, L... OMIM:267750
Kaposi Sarcoma
Weight loss ORPHA:33276
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Neonatal death, Arthrogryposis mult... OMIM:608013
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Wilson Disease
Failure to thrive, Increased body weight, Weight loss ORPHA:905
Secondary Short Bowel Syndrome
Failure to thrive, Aganglionic megacolon, Weight loss ORPHA:95427
Leishmaniasis
Weight loss ORPHA:507
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... ORPHA:3384
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Hypertension, Congestive heart failure, Weight loss ORPHA:85450
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Optic atrophy OMIM:615663
Legionnaires Disease
Pericarditis, Myocarditis, Splenomegaly, Endocarditis, Hypotension, Arrhythmia ORPHA:549
Pelizaeus-Merzbacher Disease
Optic atrophy, Failure to thrive in infancy, Cachexia ORPHA:702
Acute Promyelocytic Leukemia
Weight loss, Epistaxis, Diffuse alveolar hemorrhage ORPHA:520
Trichinellosis
Anisocoria, Conjunctival hyperemia, Conjunctivitis, Abnormal uvea morphology ORPHA:863
Genetic Recurrent Myoglobinuria
Proximal muscle weakness in upper limbs, Myositis, Type 2 muscle fiber atrophy, Viral infection-i... ORPHA:99845
Nijmegen Breakage Syndrome
Skeletal muscle atrophy, Rhabdomyosarcoma, Recurrent pneumonia, Respiratory failure, Cutaneous ph... ORPHA:647
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Pheochromocyto... OMIM:171300
Beta-Ketothiolase Deficiency
Hypertension, Hypotension, Weight loss ORPHA:134
Lyme Disease
Arrhythmia, Atrioventricular block ORPHA:91546
Oculogastrointestinal Muscular Dystrophy
Abnormal mitral valve morphology, Cachexia ORPHA:1876
Majeed Syndrome
Failure to thrive, Cachexia, Weight loss ORPHA:77297
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Bradycardia, Congenital diaphragmatic hernia OMIM:614437
Neurodegeneration And Seizures Due To Copper Transport Defect
Limb hypertonia, Tricuspid regurgitation, Cardiomegaly OMIM:620306
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Hydrocephalus, Elbow flexio... OMIM:245600
Chédiak-Higashi Syndrome
Pericardial effusion, Decreased nerve conduction velocity, Epistaxis ORPHA:167
Esophageal Atresia
Respiratory distress, Cyanosis, Episodic respiratory distress, Chronic pulmonary obstruction, Res... ORPHA:1199
Acute Adrenal Insufficiency
Orthostatic hypotension, Myocardial infarction, Hypovolemia, Weight loss, Hypotension, Failure to... ORPHA:95409
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Late-Onset Isolated Acth Deficiency
Orthostatic hypotension, Failure to thrive, Hypotension, Weight loss ORPHA:199299
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Abnormal myelination OMIM:617333
Congenital Tufting Enteropathy
Optic disc coloboma, Failure to thrive, Weight loss ORPHA:92050
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Erythema, Acrocyanosis, Purpura ORPHA:343
Pyomyositis
Sudden cardiac death, Weight loss ORPHA:764
Bloom Syndrome
Pneumonia, Chronic pulmonary obstruction, Telangiectasia, Respiratory failure, Rhinitis, Cutaneou... ORPHA:125
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Dystonia, Tachypnea, Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:618278
Pitt-Hopkins Syndrome
Acrocyanosis, Aganglionic megacolon, Abnormal pattern of respiration, Hyperventilation ORPHA:2896
Pemphigus Vulgaris
Weight loss ORPHA:704
Primary Hyperoxaluria
Optic disc pallor, Acrocyanosis, Optic atrophy, Cutis marmorata ORPHA:416
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Sudden cardiac death, Myocardial infarction, Weight loss, Abnormal m... ORPHA:36426
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Diastasis recti, Cardiomegaly, Splenomegaly, Congestive heart... OMIM:252500
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart failure, Vasculitis, Arrhy... ORPHA:727
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Aganglionic megacolon, Splenomegaly, Arthrogryposis multiplex congenita, Arrhythmia ORPHA:163746
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Congenital diaphragmatic hernia, Dyspnea, Hydrocephalus, Erythema, Respirat... ORPHA:2556
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Hypoplasia of the musculature, Thenar muscle atrophy, Cardiomegaly, Mu... ORPHA:2463
Xfe Progeroid Syndrome
Hypertension, Failure to thrive, Optic atrophy, Cachexia OMIM:610965
Tetrasomy 12P
Cachexia ORPHA:884
Sickle Cell Disease
Splenomegaly, Hepatomegaly, Hypertension, Cardiomegaly OMIM:603903
Aicardi-Goutieres Syndrome 7
Hematemesis, Pericardial effusion, Delayed myelination, Vasculitis, Weight loss, Hematochezia, Hy... OMIM:615846
Holocarboxylase Synthetase Deficiency
Weight loss ORPHA:79242
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy ORPHA:101076
Anaplastic Thyroid Carcinoma
Weight loss ORPHA:142
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Syncope, Hypotension, Weight loss ORPHA:98849
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Arrhythmia OMIM:273400
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu... ORPHA:340
Oculodentodigital Dysplasia
Ventricular septal defect, Optic atrophy, Camptodactyly of finger, Arrhythmia ORPHA:2710
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Abetalipoproteinemia
Myopathy, Respiratory failure, Distal lower limb muscle weakness ORPHA:14
Lynch Syndrome
Gastrointestinal hemorrhage, Weight loss, Cardiac diverticulum ORPHA:144
Erdheim-Chester Disease
Congestive heart failure, Abnormal aortic valve morphology, Abnormal pericardium morphology, Weig... ORPHA:35687
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Miscarriage, Interphalangeal joint contracture of finger, Diastasis recti, Flexion contracture, S... ORPHA:96334
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Anisocoria OMIM:615510
Wilson Disease
Decreased nerve conduction velocity, Mixed demyelinating and axonal polyneuropathy OMIM:277900
Peroxisome Biogenesis Disorder 4B
Decreased nerve conduction velocity, Optic atrophy OMIM:614863
Primary Myelofibrosis
Cachexia, Portal hypertension ORPHA:824
19Q13.11 Microdeletion Syndrome
Failure to thrive, Ventricular septal defect, Cachexia ORPHA:217346
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Behçet Disease
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Pulmonary... ORPHA:117
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia OMIM:617809
Isolated Permanent Neonatal Diabetes Mellitus
Weight loss, Failure to thrive, Hypovolemia, Abnormal heart morphology ORPHA:99885
Ogden Syndrome
Premature atrial contractions, Torticollis, Bicuspid aortic valve, Left atrial enlargement, Ventr... OMIM:300855
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Multiple joint contractures, Cardiomegaly, Macroglossia, Arthrogryposis multiplex c... OMIM:618143
Thymoma
Demyelinating peripheral neuropathy, Weight loss ORPHA:99867
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Weight loss, Cardiac diverticulum ORPHA:440437
Myhre Syndrome
Generalized muscle hypertrophy, Respiratory insufficiency, Skeletal muscle hypertrophy, Respirato... OMIM:139210
Ataxia-Telangiectasia-Like Disorder 2
Conjunctival telangiectasia, Progeroid facial appearance, Congenital diaphragmatic hernia, Cutane... OMIM:615919
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Cachexia OMIM:175500
Colchicine Poisoning
Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arrhythmia ORPHA:31824
Dermatomyositis
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Vasculitis, Weight ... ORPHA:221
Postinfectious Vasculitis
Cerebral vasculitis, Abnormality of the peripheral nervous system, Raynaud phenomenon, Weight los... ORPHA:48435
Vici Syndrome
Left ventricular hypertrophy, Myopathy, Abnormal posturing OMIM:242840
Perry Syndrome
Weight loss OMIM:168605
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ... ORPHA:900
Heart Block, Congenital
Cardiomyopathy, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular node OMIM:234700
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Holoprosencephaly
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphra... ORPHA:2162
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia OMIM:615471
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Hydrocephalus, Rhabdomyolysis, Cardiomyopathy, Myopathy, Arrhythmia ORPHA:157
Tuberous Sclerosis Complex
Respiratory distress, Pancreatic endocrine tumor, Noncommunicating hydrocephalus, Respiratory fai... ORPHA:805
Hereditary Late-Onset Parkinson Disease
Orthostatic hypotension due to autonomic dysfunction, Weight loss ORPHA:411602
Craniorachischisis
Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephaly, Spinal dys... ORPHA:63260
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Neonatal death, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia OMIM:614052
Oromandibular Dystonia
Weight loss ORPHA:93958
Alveolar Echinococcosis
Abnormal pericardium morphology, Budd-Chiari syndrome, Portal hypertension, Weight loss ORPHA:284
Norrie Disease
Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal opacity, Sclerocornea,... ORPHA:649
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... OMIM:600376
Oligomeganephronia
Optic disc coloboma, Congenital diaphragmatic hernia ORPHA:2260
Medullary Thyroid Carcinoma
Weight loss ORPHA:1332
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Cachexia ORPHA:52503
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Weight loss OMIM:613673
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Abnormal myelination ORPHA:67045
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Cardiomyopathy, Epistaxis, Weight loss ORPHA:79430
Igg4-Related Aortitis
Weight loss ORPHA:449400
Nocardiosis
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl... ORPHA:31204
Retinoblastoma
Hypopyon, Heterochromia iridis, Leukocoria, Uveitis ORPHA:790
Retinoblastoma
Leukocoria OMIM:180200
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... OMIM:610655
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Atrial septal defect, Arrhythmia, Patent foramen ovale OMIM:619184
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Abnormal myocardium morphology, Sudden cardiac death, Weight loss ORPHA:537
Granulomatosis With Polyangiitis
Retinal hemorrhage, Weight loss, Localized pulmonary hemorrhage, Diffuse alveolar hemorrhage OMIM:608710
Phakomatosis Pigmentokeratotica
Raynaud phenomenon, Arrhythmia, Pheochromocytoma, Rhabdomyosarcoma ORPHA:2874
Cardiac-Urogenital Syndrome
Tachycardia, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enla... OMIM:618280
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of the iris, Ectopia ... OMIM:175780
Hutchinson-Gilford Progeria Syndrome
Aortic regurgitation, Ventricular hypertrophy, Mitral valve calcification, Mitral stenosis, Angin... ORPHA:740
Igg4-Related Retroperitoneal Fibrosis
Renovascular hypertension, Large vessel vasculitis, Weight loss, Hypertension, Budd-Chiari syndrome ORPHA:49041
Oculocerebrorenal Syndrome Of Lowe
Cataract, Corneal opacity, Chorioretinal dysplasia, Abnormal pupil morphology, Buphthalmos, Lenti... ORPHA:534
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia, Optic atrophy, Demyelinating peripheral neuropathy ORPHA:220295
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Wolman Disease
Cachexia ORPHA:75233
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia OMIM:230000
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction ORPHA:141127
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Camptodactyly of finger ORPHA:2554
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Castleman Disease
Restrictive cardiomyopathy, Weight loss ORPHA:160
Aredyld Syndrome
Cachexia ORPHA:1133
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Weight loss, Achalasia, Failure to thrive, Hypoperistalsis ORPHA:1018
Lysosomal Acid Lipase Deficiency
Cachexia, Hypovolemia, Weight loss, Hypotension, Pulmonary arterial hypertension, Failure to thrive ORPHA:275761
Acute Monoblastic/Monocytic Leukemia
Weight loss ORPHA:514
Dominant Beta-Thalassemia
Hypoplasia of the musculature, Splenomegaly, High-output congestive heart failure, Dilated cardio... ORPHA:231226
Primary Intestinal Lymphangiectasia
Pericardial effusion, Weight loss ORPHA:90362
Rat-Bite Fever
Myocarditis, Pericarditis, Endocarditis, Weight loss ORPHA:31205
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Arrhythmia, Facial palsy ORPHA:68
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis OMIM:617478
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Weight loss, Hyperte... ORPHA:91347
X-Linked Intellectual Disability, Cabezas Type
EEG abnormality, Obesity, Cachexia ORPHA:85293
Congenital Disorder Of Deglycosylation 1
Delayed CNS myelination, Decreased sensory nerve conduction velocity, Delayed myelination, Decrea... OMIM:615273
Kleefstra Syndrome
Ventricular septal defect, Bicuspid aortic valve, Macroglossia, Arrhythmia, Tetralogy of Fallot ORPHA:261494
Cystic Echinococcosis
Weight loss, Abnormal heart morphology ORPHA:400
Scalp-Ear-Nipple Syndrome
Anisocoria, Cataract, Iris coloboma, Developmental cataract OMIM:181270
Reactive Arthritis
Aortic regurgitation, Pericarditis, Weight loss ORPHA:29207
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Ectopia pupillae OMIM:618223
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ... OMIM:309801
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... OMIM:300967
Mgat2-Cdg
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Reflex asystolic ... ORPHA:79329
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Decreased distal sensory nerve action potential, Abnormal autonomic nervous system physiology OMIM:614575
Brucellosis
Pericarditis, Transient ischemic attack, Small for gestational age, Abnormality of the peripheral... ORPHA:1304
Weill-Marchesani Syndrome 2
Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Shallow anterior chambe... OMIM:608328
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Cachexia, Abnormal heart morphology, Hematochezia, Melena, Intestina... ORPHA:79076
16P11.2P12.2 Microdeletion Syndrome
Arrhythmia, Tricuspid regurgitation, Camptodactyly of finger ORPHA:261211
Aortic Arch Interruption
Respiratory distress, Cyanosis, Tachypnea, Left ventricular hypertrophy, Exertional dyspnea ORPHA:2299
Refractory Celiac Disease
Weight loss ORPHA:398063
Iniencephaly
Encephalocele, Congenital diaphragmatic hernia, Spina bifida, Myelomeningocele, Hydrocephalus, An... ORPHA:63259
Localized Scleroderma
Skeletal muscle atrophy, Raynaud phenomenon, Vasculitis, Flexion contracture, Myopathy, Arrhythmia ORPHA:90289
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Achalasia, Ineffective esophageal peristalsis, Sinus bradycardia OMIM:619482
Thymic Neuroendocrine Tumor
Weight loss ORPHA:97289
Beta-Thalassemia Major
Hepatomegaly, Hypoplasia of the musculature, Splenomegaly, High-output congestive heart failure, ... ORPHA:231214
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea, Respiratory insufficiency, Respiratory failure, Cough, Emphysema OMIM:613658
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly ORPHA:79280
Celiac Disease, Susceptibility To, 1
Failure to thrive, Weight loss OMIM:212750
Otopalatodigital Syndrome, Type Ii
Elbow contracture, Spina bifida, Hydrocephalus, Respiratory insufficiency, Respiratory failure, S... OMIM:304120
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss ORPHA:54251
Silver-Russell Syndrome
Failure to thrive in infancy, Obesity, Cachexia ORPHA:813
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic disc pallor, Small for gestational age, Delayed myelination, Optic atrophy, EEG abnormality... ORPHA:404454
Denys-Drash Syndrome
Posterolateral diaphragmatic hernia, Neonatal respiratory distress, Neonatal death, Congenital di... OMIM:194080
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Respiratory failure, Emphysema, Optic atrophy, Optic nerve hypoplasia ORPHA:500150
Superficial Siderosis
Anisocoria ORPHA:247245
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Anisocoria OMIM:618653
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Cutis marmorata, Tremor, Prolonged neonatal jaundice, Dyst... ORPHA:51
Metachromatic Leukodystrophy
Decreased nerve conduction velocity ORPHA:512
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Conjunctival telangiectasia, Decreased motor nerve conduction velocity OMIM:606002
Bannayan-Riley-Ruvalcaba Syndrome
Intracranial hemorrhage, Angina pectoris, Cachexia, Telangiectasia ORPHA:109
Cutis Marmorata Telangiectatica Congenita
Leukocoria ORPHA:1556
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Weight loss ORPHA:424
Solitary Fibrous Tumor
Weight loss ORPHA:2126
Acrodermatitis Enteropathica
Failure to thrive, Weight loss ORPHA:37
Charcot-Marie-Tooth Disease Type 4B2
Myelin outfoldings, Decreased distal sensory nerve action potential, Optic atrophy ORPHA:99956
Hypermobile Ehlers-Danlos Syndrome
Apnea, Decreased nerve conduction velocity, Aplasia/Hypoplasia of the abdominal wall musculature,... ORPHA:285
Klatskin Tumor
Weight loss ORPHA:99978
Lymphedema-Distichiasis Syndrome
Patent ductus arteriosus, Arrhythmia, Tetralogy of Fallot, Ventricular septal defect OMIM:153400
Osteootohepatoenteric Syndrome
Failure to thrive, Weight loss OMIM:619377
Ulnar-Mammary Syndrome
Arrhythmia, Aplasia of the pectoralis major muscle, Ventricular septal defect, Camptodactyly of f... ORPHA:3138
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Arrhythmia ORPHA:2878
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Skeletal muscle atrophy, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Conge... OMIM:256040
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:603041
Addison Disease
Orthostatic hypotension, Failure to thrive, Hypotension, Weight loss ORPHA:85138
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Spontaneous pneumothorax, Jaundice, Recurrent pneumonia, Respiratory failure ORPHA:731
African Trypanosomiasis
Papilledema, Pericarditis, Hepatomegaly, Abnormal EKG, Myocarditis, Splenomegaly, Congestive hear... ORPHA:3385
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Arrhythmia, Camptodactyly of finger ORPHA:3220
Peripheral Primitive Neuroectodermal Tumor
Weight loss ORPHA:370348
Caroli Disease
Portal hypertension, Weight loss ORPHA:53035
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Macroglossia... OMIM:130650
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Macroglossia ORPHA:96191
Tubulointerstitial Nephritis And Uveitis Syndrome
Nongranulomatous uveitis, Anterior uveitis, Cataract, Choroidal neovascularization, Anterior cham... ORPHA:91500
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Microsporidiosis
Myocarditis, Cachexia, Endocarditis, Weight loss ORPHA:2552
Fanconi Anemia
Aganglionic megacolon, Weight loss, Abnormal cardiac septum morphology, Abnormal aortic valve mor... ORPHA:84
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Myocarditis, Congestive heart failure, Vasculitis,... ORPHA:2331
Multiple System Atrophy 1, Susceptibility To
Iris atrophy OMIM:146500
Primary Sclerosing Cholangitis
Portal hypertension, Spider hemangioma, Congestive heart failure, Weight loss, Palmar telangiectasia ORPHA:171
Classical Ehlers-Danlos Syndrome
Orthostatic hypotension, Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosi... ORPHA:287
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Arrhythmia OMIM:106300
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Arrhythmia OMIM:171480
Goodpasture Syndrome
Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ... OMIM:233450
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea ORPHA:99050
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pul... ORPHA:97214
Fraser Syndrome 2
Respiratory failure OMIM:617666
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypertrophic cardiomyopathy, Portal hypertension, Abnormal myelination ORPHA:309854
Lymphedema-Distichiasis Syndrome
Arrhythmia ORPHA:33001
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrioventricular block ORPHA:93317
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss ORPHA:2298
Choreoacanthocytosis
Decreased number of peripheral myelinated nerve fibers, Dilated cardiomyopathy, Weight loss, Abno... ORPHA:2388
Hereditary Sensory And Autonomic Neuropathy Type 4
Abnormality of the autonomic nervous system, Syncope, Abnormality of peripheral nerve conduction,... ORPHA:642
Camurati-Engelmann Disease
Facial palsy, Cachexia, Optic atrophy, Hypertrophic cardiomyopathy, Optic nerve compression, Slen... ORPHA:1328
Williams Syndrome
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Atrial septal defect, Spina bifida oc... ORPHA:904
Wiskott-Aldrich Syndrome
Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, Hematemesis, Vasculitis, In... ORPHA:906
Familial Gestational Hyperthyroidism
Weight loss ORPHA:99819
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Pulmonary arterial hypertension, Optic neuropathy, Weight loss OMIM:181000
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Hydrocephalus, Renovascular hypertension, Cardiomyopathy... ORPHA:3472
Schwartz-Jampel Syndrome
Pulmonary arterial hypertension, Arrhythmia, Cachexia, Decreased body weight ORPHA:800
Ivic Syndrome
Arrhythmia ORPHA:2307
Ppoma
Gastrointestinal hemorrhage, Weight loss ORPHA:97278
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Congenital diaphragmatic hernia, Cardiomegaly, Rhabdomyosarcoma, S... ORPHA:116
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormal mitral valve morphology, Cachexia ORPHA:1969
Parathyroid Carcinoma
Shortened QT interval, Weight loss ORPHA:143
Zollinger-Ellison Syndrome
Hematochezia, Gastrointestinal hemorrhage, Weight loss ORPHA:913
Familial Mediterranean Fever
Pericarditis, Myocardial infarction, Splenomegaly, Vasculitis, Arrhythmia ORPHA:342
Neonatal Marfan Syndrome
Iridodonesis, Megalocornea, Ectopia lentis ORPHA:284979
Trisomy 18
Atrial septal defect, Ventricular septal defect, Cachexia ORPHA:3380
Acrofrontofacionasal Dysostosis 1
Iris atrophy OMIM:201180
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Dyspnea, Respiratory failure ORPHA:2636
Liver Disease, Severe Congenital
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil... OMIM:619991
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Wolf-Hirschhorn Syndrome
Ectopia pupillae, Iris coloboma, Rieger anomaly OMIM:194190
Kikuchi-Fujimoto Disease
Myocarditis, Vasculitis, Vasculitis in the skin, Weight loss ORPHA:50918
Marfan Syndrome
Mitral valve calcification, Cachexia, Congestive heart failure, Mitral valve prolapse, Slender build ORPHA:558
Somatostatinoma
Gastrointestinal hemorrhage, Weight loss ORPHA:97283
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Mitral valve calcification, Papilledema, Cachexia, Aortic valve... ORPHA:2072
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Noonan Syndrome
Hepatomegaly, Arrhythmia, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal pulmonar... ORPHA:648
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Shock, Hypovolemia, Weight loss, Hypotension, Failure to thrive ORPHA:90794
Mowat-Wilson Syndrome
Cataract, Microcornea, Ectopia pupillae, Chorioretinal coloboma, Iris coloboma OMIM:235730
Multiple Endocrine Neoplasia Type 1
Shortened QT interval, Hematemesis, Cranial nerve compression, Weight loss, Melena, Hypertension ORPHA:652
Grfoma
Gastrointestinal hemorrhage, Weight loss ORPHA:97261
Gallbladder Neuroendocrine Tumor
Weight loss ORPHA:100086
Oculodentodigital Dysplasia
Atrial septal defect, Arrhythmia, Joint contracture of the 5th finger OMIM:164200
Pancreatoblastoma
Weight loss ORPHA:677
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Retinal h... ORPHA:51608
Glucagonoma
Gastrointestinal hemorrhage, Weight loss ORPHA:97280
Degcags Syndrome
Tachycardia, Ventricular septal defect, Small for gestational age, Pulmonic stenosis, Abnormal my... OMIM:619488
Osteoporosis-Pseudoglioma Syndrome
Iris atrophy, Cataract, Absent anterior chamber of the eye OMIM:259770
Vipoma
Hematochezia, Weight loss ORPHA:97282
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Cachexia ORPHA:37042
Tropical Pancreatitis
Weight loss ORPHA:103918
Sarcoidosis
Hepatomegaly, Abnormal cardiac ventricular function, Facial palsy, Portal hypertension, Heart blo... ORPHA:797
Familial Pancreatic Carcinoma
Weight loss ORPHA:1333
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Iris atrophy, Cataract, Abnormal pupil morphology, Microcornea, Ectopia pupillae, Astigmatism, Ax... ORPHA:261552
Specc1L-Related Hypertelorism Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Arrhythmia, Tetralogy ... ORPHA:1519
Witteveen-Kolk Syndrome
Anisocoria, Cataract, Iris coloboma OMIM:613406
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss ORPHA:309031
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, S... OMIM:182250
Immunodeficiency 31C
Weight loss OMIM:614162
Seckel Syndrome
Cachexia ORPHA:808
Multiple Myeloma
Weight loss ORPHA:29073
Malt Lymphoma
Weight loss ORPHA:52417
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Ventricular septal defect, Facial hypotonia, Congenital diaphragmatic hernia, Diast... OMIM:312870
Igg4-Related Kidney Disease
Pericarditis, Arteritis, Weight loss ORPHA:449395
Stickler Syndrome
Arrhythmia, Slender build, Cachexia, Mitral valve prolapse ORPHA:828
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss ORPHA:85408
Ulbright-Hodes Syndrome
Respiratory distress, Respiratory failure, Pneumothorax ORPHA:3404
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Cushing Syndrome Due To Ectopic Acth Secretion
Myocardial infarction, Increased body weight, Weight loss, Hypertension, Capillary fragility, Tru... ORPHA:99889
Spondylometaphyseal Dysplasia, Sedaghatian Type
Atrial septal defect, Myocarditis, Arrhythmia OMIM:250220
Cystinosis, Nephropathic
Failure to thrive in infancy, Weight loss OMIM:219800
Sponastrime Dysplasia
Microcoria, Cataract, Congenital aphakia ORPHA:93357
Neurooculorenal Syndrome
Iris atrophy OMIM:620305
Igg4-Related Dacryoadenitis And Sialadenitis
Optic nerve compression, Weight loss ORPHA:79078
Hydrolethalus Syndrome 1
Anencephaly, Stillbirth, Agenesis of the diaphragm, Severe hydrocephalus OMIM:236680
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss OMIM:301074
Immunodeficiency 82 With Systemic Inflammation
Vasculitis in the skin, Weight loss OMIM:619381
Vascular Ehlers-Danlos Syndrome
Keratoconus, Abnormal pupil morphology ORPHA:286
Coffin-Lowry Syndrome
Acrocyanosis, Cutis marmorata OMIM:303600
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337
Ulnar-Mammary Syndrome
Elbow flexion contracture, Arrhythmia, Ventricular septal defect OMIM:181450
Homozygous Familial Hypercholesterolemia
Abnormal tendon morphology, Tendon xanthomatosis, Optic neuropathy, Myocardial steatosis ORPHA:391665
Proteus Syndrome
Cachexia, Sudden cardiac death, Pulmonary embolism ORPHA:744
Chronic Graft Versus Host Disease
Weight loss ORPHA:99921
Orofaciodigital Syndrome Type 14
Ventricular septal defect, Abnormal myelination ORPHA:434179

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Nrg1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Nrg1.

No publications found that use IMPC mice or data for Nrg1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Nrg1tm256528(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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