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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:
HRGalpha,  ARIA,  heregulin,  NDF,  D230005F13Rik,  Hgl,  HRG,  HGL,  6030402G23Rik,  SMDF,  GGF,  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
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea 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
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... 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
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Gilles De La Tourette Syndrome
Phonic tics, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Moto... OMIM:137580
Pelizaeus-Merzbacher disease
Abnormal CNS myelination, Leukodystrophy DECIPHER:38
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Prolonged miniature endplate currents, Decreased miniature endplate potentials OMIM:616321
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 4
Delayed myelination OMIM:611107
Myasthenic Syndrome, Congenital, 15
Fatigable weakness OMIM:616227
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:254110
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Anterior Segment Dysgenesis 3
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... OMIM:601631
Myasthenic Syndrome, Congenital, 18
Fatigable weakness OMIM:616330
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy ORPHA:3283
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Atrial Standstill
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... ORPHA:1344
Myasthenic Syndrome, Congenital, 13
Fatigable weakness OMIM:614750
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:606070
Microphthalmia/Coloboma 10
Iris coloboma, Microcoria, Chorioretinal coloboma OMIM:616428
Myopathy, Centronuclear, 1
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Type 1 muscl... OMIM:160150
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Skeletal muscle atrophy, Facial diplegia, Neonatal death,... OMIM:611890
Nemaline Myopathy 8
Nemaline bodies, Myofibrillar myopathy, Death in infancy, Flexion contracture, Facial palsy, Resp... OMIM:615348
Benign Schwannoma
Peripheral schwannoma, Schwannoma, Abnormal cranial nerve morphology, Vestibular schwannoma, Scle... ORPHA:252164
Glossopharyngeal Neuralgia
Cranial nerve compression, Schwannoma, Abnormal glossopharyngeal nerve morphology, Syncope, Brady... ORPHA:221098
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Myopathy, Scapulohumeroperoneal
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:616852
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Zonular cataract ORPHA:39044
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Optic... ORPHA:401768
Myopathy, Sarcoplasmic Body
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620286
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Myopathy, Distal, 7, Adult-Onset, X-Linked
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:301075
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Distal amyotrophy, Lower limb muscle weakness, Hand muscle weakness, Hand muscle atrophy, Weaknes... OMIM:607641
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... OMIM:608423
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Onion bulb formation, Cardiomyopathy OMIM:610100
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology, Abnormal heart morphology ORPHA:91412
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Abnormal autonomic nervous syste... ORPHA:101016
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Upper limb muscle weakness, Lower limb muscle weakness, Abnormal peripheral action potential ampl... ORPHA:90117
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... OMIM:620375
Inclusion Body Myopathy And Brain White Matter Abnormalities
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:619733
Myasthenic Syndrome, Congenital, 6, Presynaptic
Generalized hypotonia due to defect at the neuromuscular junction, Fatigable weakness, Decreased ... OMIM:254210
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Burning Mouth Syndrome
Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials ORPHA:353253
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no... OMIM:613424
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Congenital Myopathy 4A, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Respiratory insufficiency, Type 1 fibers relatively s... OMIM:255310
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Dysphagia, Gait ataxia, Hyperactivity, Impulsivity OMIM:620448
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bicuspid aortic valve, Left atri... OMIM:616201
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic reducing inclusion ... OMIM:300717
Muscular Dystrophy, Congenital, 1B
Sternocleidomastoid amyotrophy, Muscular dystrophy, Shoulder girdle muscle weakness, Pectoralis a... OMIM:604801
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors
Fatigable weakness OMIM:254190
Congenital Myopathy 10A, Severe Variant
Increased variability in muscle fiber diameter, Camptodactyly of finger, Respiratory insufficienc... OMIM:614399
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Abnormal motor neuron morp... DECIPHER:29
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
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
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-... OMIM:615424
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Respira... OMIM:605253
Charcot-Marie-Tooth Disease, Type 4J
Decreased nerve conduction velocity, Decreased motor nerve conduction velocity, Onion bulb format... OMIM:611228
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:613954
Microcoria, Congenital
Miosis, Hypoplasia of the iris dilator muscle, Microcoria OMIM:156600
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormal myelination, Abnormality of peripheral nerve conduction ORPHA:431329
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Generalized hypotonia due to defect at the neuromuscular junction, Fatigable weakness, Decreased ... OMIM:605809
Triose Phosphate-Isomerase Deficiency
Hypertrophic cardiomyopathy, Decreased nerve conduction velocity ORPHA:868
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:617760
Chronic Inflammatory Demyelinating Polyneuropathy
Abnormal nerve conduction velocity, Decreased nerve conduction velocity, Peripheral demyelination... ORPHA:2932
Tibial Muscular Dystrophy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... ORPHA:609
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy, Hand muscle atrophy OMIM:183020
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Arrhythmia, Peripheral demyelination ORPHA:99944
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Leber Hereditary Optic Neuropathy
Optic atrophy, Myopathy, Arrhythmia, Ventricular preexcitation, Retinal telangiectasia ORPHA:104
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... OMIM:618782
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Microphthalmia/Coloboma 7
Inferior chorioretinal coloboma, Iris coloboma OMIM:614497
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Congenital Myasthenic Syndromes With Glycosylation Defect
Favorable response of weakness to acetylcholine esterase inhibitors, Abnormal peripheral nervous ... ORPHA:353327
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... OMIM:620452
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:117000
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Decreased distal ... OMIM:601098
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom... OMIM:163800
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:612999
Attrv30M Amyloidosis
Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia, Abnormal autonomic nervous syst... ORPHA:85447
Myopathy, Myofibrillar, 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... OMIM:609200
Slowed Nerve Conduction Velocity, Autosomal Dominant
Decreased nerve conduction velocity, Peripheral demyelination, Onion bulb formation OMIM:608236
Spinal Muscular Atrophy, Type I
Proximal muscle weakness in lower limbs, Respiratory insufficiency, Death in childhood, Spinal mu... OMIM:253300
Myopathy, Centronuclear, 2
Centrally nucleated skeletal muscle fibers, Scapular winging, Respiratory insufficiency due to mu... OMIM:255200
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder girdle muscle ... ORPHA:98913
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Mitochondrial Myopathy With Diabetes
Weakness of orbicularis oculi muscle, Limb muscle weakness, Ragged-red muscle fibers, Proximal am... OMIM:500002
Congenital Muscular Dystrophy With Intellectual Disability
Abnormality of the tongue muscle, Respiratory insufficiency, Reduced muscle fiber alpha dystrogly... ORPHA:370968
Iridocorneal Endothelial Syndrome
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... ORPHA:64734
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Facial palsy, Ragged-red muscle fibers OMIM:616209
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular arrhythmia, Sudden cardiac d... OMIM:610476
Congenital Myopathy 3 With Rigid Spine
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:602771
Null Syndrome
Optic atrophy, CNS hypomyelination, Decreased nerve conduction velocity, Peripheral demyelination... ORPHA:280234
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Decreased motor ... OMIM:620068
Intermediate Nemaline Myopathy
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Resp... ORPHA:171433
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... OMIM:601846
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... OMIM:608358
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Myasthenic Syndrome, Congenital, 14
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:616228
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscl... ORPHA:2593
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia, Pate... OMIM:616276
Myopathy, Distal, Tateyama Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... OMIM:614321
Ethanolaminosis
Cardiomegaly OMIM:227150
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Irregular myelin ... OMIM:601382
Congenital Myopathy 14
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... OMIM:618414
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Abno... ORPHA:206594
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
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, Respiratory insufficiency, Death in childhood, Spinal muscular atrophy, ... OMIM:616081
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:618129
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... OMIM:604765
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, Onion bul... OMIM:608323
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Increased variability in muscle fiber diameter, Nemaline bodies, Increased endomysial connective ... OMIM:620265
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617066
Van Den Bosch Syndrome
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors ORPHA:3417
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Lower limb muscle weakness, Tremor, Abnormal lower motor neuron morphology, Respiratory insuffici... ORPHA:2590
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... ORPHA:168796
Lower Motor Neuron Syndrome With Late-Adult Onset
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... ORPHA:276435
Polyglucosan Body Myopathy 2
Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Muscle fibe... OMIM:616199
Intestinal Botulism
Mydriasis ORPHA:178481
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Joint contracture of the hand, Distal amyotrophy, Scapuloperoneal amyotrophy, Spinal muscular atr... OMIM:611067
Loeffler Endocarditis
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Arrhythmia, Weight loss,... ORPHA:75566
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Congenital contracture, Respiratory insufficiency, De... OMIM:615368
Arnold-Chiari Malformation Type I
Cranial nerve compression, Abnormality of the vestibulocochlear nerve, Abnormality of the twelfth... ORPHA:268882
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased amplitude of sensory action potentials, Failure to thrive in infancy, Decreased nerve c... ORPHA:90103
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Respiratory insufficiency, Death in early adulthood, ... OMIM:255160
Autosomal Recessive Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Respiratory insufficiency, Facial diplegia, Type 1 mu... ORPHA:169186
Pontocerebellar Hypoplasia Type 1
Optic atrophy, Skeletal muscle atrophy, Peripheral axonal neuropathy, Arthrogryposis multiplex co... ORPHA:2254
Rhabdomyolysis, Susceptibility To, 1
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:620235
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae OMIM:609141
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... OMIM:618920
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Distal amyotrophy, Denervation of the diaphragm, Camptodactyly of finger, Decreased nerve conduct... OMIM:604320
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Prox... OMIM:614302
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis ORPHA:247815
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Iris cyst OMIM:620086
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Autonomic bladder dysfunction, Hypertrophic card... ORPHA:330001
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Fatigable weakness, Prolonged miniature endplate currents OMIM:601462
Myopathy, Myofibrillar, 5
Abnormal peripheral nervous system morphology, Respiratory insufficiency, Myofibrillar myopathy, ... OMIM:609524
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:607734
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Z-band streaming, Type 1 muscle fi... OMIM:618823
Myasthenic Syndrome, Congenital, 5
Fatigable weakness, Prolonged miniature endplate currents OMIM:603034
Loose Anagen Syndrome
Iris coloboma ORPHA:168
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
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Bradycardia, Pericardial effusion OMIM:614702
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia OMIM:617113
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Facial palsy, Decreased miniature endplate potentials OMIM:608930
Coronary Arterial Fistula
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria... ORPHA:2041
Charcot-Marie-Tooth Disease, Type 4H
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:609311
Autosomal Dominant Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... ORPHA:169189
Iatrogenic Botulism
Mydriasis ORPHA:254509
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Limb-girdle muscular dystrophy, Limb muscle weakness, Arrhythmia, Left anterior fascicular block,... OMIM:181350
Nathalie Syndrome
Arrhythmia ORPHA:2663
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatty... OMIM:620246
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Oculopharyngeal Muscular Dystrophy 1
Facial palsy, Limb muscle weakness, Ragged-red muscle fibers OMIM:164300
Myasthenic Syndrome, Congenital, 23, Presynaptic
Fatigable weakness OMIM:618197
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology ORPHA:137596
X-Linked Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Weakness of facial musculature, Type 1 fibers relativ... ORPHA:596
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Wound Botulism
Mydriasis ORPHA:178475
Leukodystrophy, Hypomyelinating, 18
Decreased nerve conduction velocity, Abnormal motor nerve conduction velocity, Failure to thrive,... OMIM:618404
Optic Atrophy 16
Paroxysmal tachycardia, Temporal optic disc pallor OMIM:620629
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Shoulder girdle musc... OMIM:606612
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Flexion contracture, Dilated cardiomyopathy, Bradycardia OMIM:618815
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Leukodystrophy DECIPHER:59
Congenital Multicore Myopathy With External Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, Sternocleido... ORPHA:98905
Muscular Dystrophy, Limb-Girdle, Type 1H
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, C... OMIM:613530
Congenital Myopathy 20
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:620310
Inhalational Botulism
Mydriasis ORPHA:254504
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:611705
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Facial palsy, Decreased motor nerve conduction velocity, Onion bulb formation, Decreased number o... OMIM:118210
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance OMIM:614807
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... ORPHA:206549
Hereditary Myopathy With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... ORPHA:178464
Inclusion Body Myositis
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... ORPHA:611
Neuropathy, Hereditary, With Liability To Pressure Palsies
Segmental peripheral demyelination/remyelination, Froment sign, Decreased motor nerve conduction ... OMIM:162500
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Left ventricular hypertrophy, Congestive heart failure, Bradycardia OMIM:619048
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased distal sensory nerve action potential, Decreased motor nerve conduction velocity, Onion... OMIM:607706
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect OMIM:616277
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, Respiratory insufficiency, EMG: myopathic abnormalities,... ORPHA:171445
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Systolic anterior motion of the mitral valve, Cardiomyocyte hypertrophy, Palpitations, Mitral reg... OMIM:620236
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... ORPHA:399058
Nemaline Myopathy 10
Nemaline bodies, Congenital contracture, Skeletal muscle atrophy, Death in infancy, Neonatal deat... OMIM:616165
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia OMIM:239500
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Sensory axonal neuropathy, Amyot... ORPHA:52430
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... OMIM:613642
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Distal amyotrophy, Decreased motor ne... OMIM:601596
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... ORPHA:486815
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy OMIM:618992
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy, Neonatal respiratory distress, Respiratory failure OMIM:619057
Amyotrophic Lateral Sclerosis 4, Juvenile
Distal amyotrophy, Amyotrophic lateral sclerosis, Decreased compound muscle action potential ampl... OMIM:602433
Tako-Tsubo Cardiomyopathy
Dilatation of the ventricular cavity, Mitral regurgitation, Arrhythmia, Ventricular fibrillation,... ORPHA:66529
Merrf
Optic atrophy, Ragged-red muscle fibers, Myopathy ORPHA:551
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors, Unsteady gait OMIM:301107
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Bilateral Acute Depigmentation Of The Iris
Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ... ORPHA:69736
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Palpitations, Pulmonary arter... ORPHA:422
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Skeletal muscle atrophy ORPHA:247604
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Sandhoff Disease, Adult Form
Proximal muscle weakness in lower limbs, Sensory axonal neuropathy, Upper limb muscle weakness, M... ORPHA:309169
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:618484
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Bradycardia, Limb hypertonia, Joint contracture, Abnormal autonomic nervous system... OMIM:614498
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Increased variability in muscle fiber diameter, Neonatal respiratory distress, Skeletal muscle at... OMIM:616867
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Peripheral axonal neuropathy, Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:611722
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Cardiac arrest, Bradycardia OMIM:618235
Hartnup Disorder
Attention deficit hyperactivity disorder, Hyperactivity, Episodic ataxia OMIM:234500
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... OMIM:603689
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... OMIM:618052
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Decreased compound muscle action potential amplitude, Compound muscle action potential amplitude ... OMIM:616040
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity, Arrhythmia, Truncal obesity ORPHA:2928
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Demyelinating motor neuropathy, Decreased nerve conduction velocity, Demyelinating sensory neurop... ORPHA:99939
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Optic disc pallor, Perimembranous ventricular septal defect, Limb hypertonia OMIM:619170
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:615376
Ullrich Congenital Muscular Dystrophy
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... ORPHA:75840
Botulism
Mydriasis ORPHA:1267
Charcot-Marie-Tooth Disease, Type 4A
CNS hypomyelination, Basal lamina onion bulb formation, Decreased motor nerve conduction velocity... OMIM:214400
Charcot-Marie-Tooth Disease Type 1A
Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, Acute dem... ORPHA:101081
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Facial diplegia, Onion bulb formation, Decreased numbe... OMIM:618184
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Timothy Syndrome
Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car... OMIM:601005
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... OMIM:618655
Pontocerebellar Hypoplasia, Type 4
Gliosis, Congenital contracture, Respiratory failure, Death in infancy OMIM:225753
Tick-Borne Encephalitis
Skeletal muscle atrophy, Abnormal cranial nerve morphology, Abnormal glossopharyngeal nerve morph... ORPHA:297
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Distal amyotrophy, Intention tremor, Tremor, Peripheral axonal neuropathy, Cerebel... OMIM:616505
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:609909
Myopathy, Centronuclear, 5
Centrally nucleated skeletal muscle fibers, Respiratory insufficiency, Hip contracture, Weakness ... OMIM:615959
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... OMIM:608751
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination ORPHA:401835
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra... OMIM:108770
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Sensory axonal neuropathy, Cardiomyopathy, Limb muscle weakness, Ragged-red muscle fibers, Arrhyt... OMIM:609286
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinat... OMIM:609260
Bilateral Polymicrogyria
Abnormality of masticatory muscle, Arthrogryposis multiplex congenita, Facial diplegia, Abnormal ... ORPHA:268940
Foodborne Botulism
Mydriasis ORPHA:228371
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Decreased compound muscle action potential amplitude OMIM:619112
Congenital Myopathy 22A, Classic
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620351
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617072
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:612577
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Muscular dystrophy, Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:613869
Zebra Body Myopathy
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, EMG: myo... ORPHA:97240
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff... ORPHA:3282
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers OMIM:609283
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Dystonia 31
Arm dystonia, Abnormal posturing, Generalized dystonia, Leg dystonia, Craniofacial dystonia, Writ... OMIM:619565
Myopathy, Distal, 1
Rimmed vacuoles, Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Type 1 muscle fiber p... OMIM:160500
Roussy-Levy Hereditary Areflexic Dystasia
Segmental peripheral demyelination/remyelination, Decreased motor nerve conduction velocity, Onio... OMIM:180800
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Muscular Dystrophy, Becker Type
Muscular dystrophy, Cardiomyopathy, Abnormal EKG, Arrhythmia, Calf muscle pseudohypertrophy OMIM:300376
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri... OMIM:615745
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Limb muscle weakness, Respiratory failure, Hand muscle atrophy OMIM:600561
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... OMIM:613838
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... OMIM:610202
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Respiratory insufficiency, Facial diplegia, Neonatal d... OMIM:618186
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Myopathy, Left bundle branch block, Hepatomegaly, Ven... OMIM:115197
Aniridia 2
Lens subluxation, Cataract, Aniridia, Iris coloboma OMIM:617141
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure, Ragged-red muscle fibers OMIM:616794
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... ORPHA:1145
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Muscle fibe... OMIM:615422
Pulmonary Blastoma
Weight loss ORPHA:64741
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Abnormal motor nerve conduction velocity OMIM:158580
Primary Lateral Sclerosis, Juvenile
Spasticity of facial muscles, Abnormal upper motor neuron morphology, Decreased compound muscle a... OMIM:606353
Hereditary Motor And Sensory Neuropathy, Type Iic
Shoulder girdle muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotr... OMIM:606071
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Left bundle branch block, Ventricular tachycardia, First degree atrioventricular block, Right ven... OMIM:615616
Hurler-Scheie Syndrome
Abnormal heart valve morphology, Abnormal nerve conduction velocity, Cardiomyopathy ORPHA:93476
Leigh Syndrome, Nuclear
Optic atrophy, Respiratory insufficiency, Gliosis, Dystonia, Respiratory failure OMIM:256000
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Congestive heart failure OMIM:192600
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Onion bulb formation, Decreased number of peripheral m... OMIM:605588
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Infant Botulism
Mydriasis, Keratoconjunctivitis sicca ORPHA:178478
Coats Disease
Leukocoria OMIM:300216
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Decreased amplitude of sensory action potentials, Congestive heart f... ORPHA:85446
Miller Fisher Syndrome
Mydriasis, Anisocoria ORPHA:98919
Krabbe Disease
Optic atrophy, Failure to thrive, Decreased nerve conduction velocity, Peripheral demyelination, ... OMIM:245200
Myasthenic Syndrome, Congenital, 12
Facial palsy, Fatigable weakness OMIM:610542
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent fetal circulation, Papilledema... OMIM:618775
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Decreased compound muscle a... OMIM:603511
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials OMIM:618912
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure, Tremor, Weakness of facial musculature OMIM:618637
Fixed Subaortic Stenosis
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Paroxysmal atrial fibrill... ORPHA:3092
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Tetanus
Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Bradycardia, Tachyca... ORPHA:3299
Myopathy, Myofibrillar, 8
Centrally nucleated skeletal muscle fibers, Nemaline bodies, Limb muscle weakness, Joint contract... OMIM:617258
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency
Facial palsy, Fatigable weakness OMIM:616325
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:605285
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricular noncompactio... OMIM:252011
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Decreased compound muscle action potential amplitude, Decreased motor nerve conduction velocity OMIM:605726
Developmental And Epileptic Encephalopathy 71
Gliosis, Respiratory failure, Respiratory insufficiency OMIM:618328
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Distal amyotrophy, Amyotrophic lateral sclerosis, Respira... OMIM:602099
Neuralgic Amyotrophy
Upper limb muscle weakness, Respiratory insufficiency, Scapular winging, Acrocyanosis, Upper limb... ORPHA:2901
Myasthenic Syndrome, Congenital, 3B, Fast-Channel
Facial palsy, Fatigable weakness OMIM:616322
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Perching Syndrome
Camptodactyly, Cyanosis, Joint contracture OMIM:617055
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria
Abnormal cranial nerve morphology, Abnormal mitochondria in muscle tissue OMIM:258470
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Increased variability in muscle fiber diameter, Death in childhood, Death in inf... OMIM:619334
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Rimmed vacuoles, Shoulder girdle muscle atrophy, Pelvic girdle muscle atrophy, Distal amyotrophy,... OMIM:167320
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12
Decreased motor nerve conduction velocity OMIM:614751
Cardiomyopathy, Familial Hypertrophic, 12
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Vent... OMIM:612124
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Cardiomyocyte hypertr... ORPHA:263297
Mitochondrial Myopathy, Infantile, Transient
Increased muscle lipid content, Ragged-red muscle fibers, Hypertrophied muscle fibers, Respirator... OMIM:500009
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620138
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Amyotrophic Lateral Sclerosis 2, Juvenile
Arm dystonia, Distal amyotrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Generali... OMIM:205100
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... OMIM:616313
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity OMIM:605589
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypotension, Atrioventricular block, Cardiomyopathy, Rhabdomyolysis, Pre... OMIM:212138
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc... ORPHA:268
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118220
Spinocerebellar Ataxia Type 1
Optic atrophy, Abnormal nerve conduction velocity, Skeletal muscle atrophy, Abnormality of somato... ORPHA:98755
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... OMIM:614954
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Broad-based gait, Motor stereotypy, Hyperactivity OMIM:619470
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea... OMIM:600884
Coenzyme Q10 Deficiency, Primary, 5
Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy, Bradycardia OMIM:614654
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Dysmetria, Gait disturbance, Hyperactivity OMIM:618090
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Vestibular schwannoma OMIM:613641
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Cednik Syndrome
Optic atrophy, Abnormality of peripheral nerve conduction, Congestive heart failure ORPHA:66631
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Muscle fiber atrophy, Type 1 muscl... OMIM:619542
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Rimmed va... OMIM:619518
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Skeletal muscle atrophy, Respiratory insufficiency, Myopathy, Weakness of facial musculature, Spi... ORPHA:254875
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... OMIM:613980
Distal Hereditary Motor Neuropathy Type 5
Abnormal motor nerve conduction velocity ORPHA:139536
Charcot-Marie-Tooth Disease, Type 4B3
Decreased nerve conduction velocity, Onion bulb formation, Myelin outfoldings OMIM:615284
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Congestive heart failure, Muscle fiber atrophy, T... OMIM:618654
Severe Congenital Nemaline Myopathy
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Abno... ORPHA:171430
Mitochondrial Complex I Deficiency, Nuclear Type 18
Optic disc pallor, Respiratory failure, Death in infancy OMIM:618240
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr... ORPHA:542306
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:614096
Multiple Mitochondrial Dysfunctions Syndrome 3
Optic atrophy, Arthrogryposis multiplex congenita, Respiratory failure, Respiratory insufficiency OMIM:615330
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
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, Peripheral demyelination, CNS demyelination OMIM:249900
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Congenital Myopathy 10B, Mild Variant
Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end... OMIM:620249
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased distal sensory nerve action potential, Facial palsy, Decreased motor nerve conduction v... OMIM:607684
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Congestive heart failure, Ventricular septal defect, Paroxysmal atrial tachycardia... ORPHA:49827
Brugada Syndrome 1
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... OMIM:601144
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys... ORPHA:99103
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Abnormal posturing, Generalized dystonia, Multiple joint contractures, Tremor, Tor... OMIM:128100
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure, Amyotrophic lateral sclerosis OMIM:613435
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Basal lamina onion bulb formation, Decreased motor nerve conduction velocity, Peripheral demyelin... OMIM:614895
Parkinsonism With Polyneuropathy
Decreased compound muscle action potential amplitude, Decreased motor nerve conduction velocity, ... OMIM:619279
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Danon Disease
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... OMIM:300257
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Peripheral demyelination, Decreased number of peripher... OMIM:118200
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Limb muscle weakness, Ragged-red muscle fibers, Facial diplegia, Death in childhood, Respiratory ... OMIM:609560
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Decreased motor nerve conduction velocity OMIM:620111
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hypertr... OMIM:300696
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... OMIM:611528
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Tricuspid regurgitation, Left ventricular noncompaction, Left ventricular... OMIM:619167
Charcot-Marie-Tooth Disease Type 4A
Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity... ORPHA:99948
Neovascular Glaucoma
Rubeosis iridis, Uveal ectropion, Conjunctival hyperemia, Corneal stromal edema, Abnormal anterio... ORPHA:94058
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Camptodactyly, Arrhythmia OMIM:618453
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:616812
Triosephosphate Isomerase Deficiency
Skeletal muscle atrophy, Respiratory insufficiency, Myopathy, Death in infancy, Tremor, Death in ... OMIM:615512
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... ORPHA:45452
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block ORPHA:871
Autosomal Recessive Spastic Paraplegia Type 21
Abnormality of peripheral nerve conduction ORPHA:101001
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation... ORPHA:3286
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Arrhythmia, Atr... OMIM:249270
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ... OMIM:600882
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Atrop... OMIM:607459
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity, Leukodystrophy OMIM:614932
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Gliosis, Amyotrophic lateral scl... OMIM:105550
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Abnormal pupil morphology, Astigmatism, Ocular albinism ORPHA:54
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Athetosis ORPHA:382
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity OMIM:607678
Serotonin Syndrome
Mydriasis ORPHA:43116
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination ORPHA:401830
Klippel-Feil Syndrome 3, Autosomal Dominant
Iris coloboma, Chorioretinal coloboma OMIM:613702
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity ORPHA:640
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
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitations, Permanent atrial fib... OMIM:611493
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity OMIM:302801
Woolly Hair
Cataract, Abnormal pupil morphology ORPHA:170
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrioventricular block, Skeletal muscle atrophy, Absent P wave, Elbow flexion contracture, Palpit... OMIM:310300
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Cardiomyopathy, Congestive heart failure, Biventricular hypertrophy, H... OMIM:261740
Isaacs Syndrome
Weight loss, EEG abnormality ORPHA:84142
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A... ORPHA:860
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Peripheral demyelination, Myelin tomacula, Decreased n... OMIM:145900
Aids Wasting Syndrome
Cachexia, Weight loss ORPHA:90081
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Absent brainstem auditory responses, Head titubation, Gliosis, Vestibular areflexia, Respiratory ... ORPHA:3240
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Ventricular sept... OMIM:620609
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Woolly Hair Nevus
Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Facial diplegia, ... OMIM:218000
Leber Optic Atrophy
Optic atrophy, Arrhythmia, Optic neuropathy, Myopathy OMIM:535000
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Skeletal muscle atrophy, Neonatal death, Paucity of anterior horn ... OMIM:253310
Glycine Encephalopathy 1
Aggressive behavior, Restlessness, Hyperactivity, Impulsivity OMIM:605899
Neuronal Intranuclear Inclusion Disease
Decreased sensory nerve conduction velocity, Syncope, Decreased motor nerve conduction velocity OMIM:603472
Multiple Mitochondrial Dysfunctions Syndrome 1
Facial paralysis, Respiratory insufficiency, Death in infancy, Neonatal death, Opisthotonus, Resp... OMIM:605711
Hyperekplexia 4
Camptodactyly, Flexion contracture, Respiratory failure, Distal arthrogryposis OMIM:618011
Marinesco-Sjogren Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Myopathy, F... OMIM:248800
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anterior chamber OMIM:251750
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Decreased nerve conduction velocity, Abnormal peripheral action potential amplitud... ORPHA:457205
Autosomal Recessive Spastic Paraplegia Type 67
Abnormal myelination ORPHA:401820
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Demyelinating peripheral neuropathy ORPHA:101077
Idiopathic Congenital Hypothyroidism
Macroglossia, Umbilical hernia, Bradycardia ORPHA:95717
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Charcot-Marie-Tooth Disease, Type 4B2
Segmental peripheral demyelination/remyelination, Decreased motor nerve conduction velocity, Onio... OMIM:604563
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Skeletal muscle atrophy, Respiratory insufficiency, Death in child... OMIM:245400
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Neurogenic bladder, Orthostatic hypotension, Peripheral a... OMIM:263570
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Bundle branch block, Presyncope, Transient ischemic attack, Palpitatio... ORPHA:99104
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter... ORPHA:300751
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy... ORPHA:154
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Foot dorsiflexor weakness, Tremor, Triceps weakness, ... OMIM:619574
Amyotrophic Lateral Sclerosis 20
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy, Amyotrophic lateral sclerosis OMIM:615426
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Cardiomyopathy, Portal hypertension, Bradycardia, Flexion contracture, A... OMIM:232500
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca... OMIM:614916
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity ORPHA:98890
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction ORPHA:65684
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... OMIM:601954
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Peripheral demyelination, Decreased distal sensory ner... ORPHA:99953
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated muscle fiber... OMIM:608340
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Interphalangeal thumb joint contracture, Ventricular septal defect, Aganglionic megacolon, Atrial... OMIM:613870
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Ragged-red muscle fibers, Arrhythmia, Proximal amyotrophy, Facial palsy, ... OMIM:615084
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Self-mutilation, Aggressive behavior, Hyperactivity, Unsteady gait OMIM:615516
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Death in infancy, Myopathy, Neonatal death OMIM:300219
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Limb muscle weakness, Cyanosis, Syringomyelia, Opisthotonu... OMIM:207950
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m... ORPHA:1345
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Decreased motor nerve conduction velocity OMIM:616687
Neuromyelitis Optica Spectrum Disorder
Peripheral demyelination, Respiratory failure, Myelitis ORPHA:71211
Spondylometaphyseal Dysplasia, X-Linked
Knee flexion contracture, Respiratory failure, Hip contracture, Respiratory insufficiency OMIM:313420
Osteopetrosis, Autosomal Recessive 5
Mydriasis, Stillbirth OMIM:259720
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi... OMIM:115000
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
Infantile Refsum Disease
Optic atrophy, Cardiomyopathy, Arrhythmia, Hepatomegaly, Facial palsy ORPHA:772
Pelizaeus-Merzbacher Disease
Optic atrophy, Reduction of oligodendroglia OMIM:312080
Combined Oxidative Phosphorylation Defect Type 13
Decreased nerve conduction velocity, Delayed myelination, Failure to thrive ORPHA:319514
Morm Syndrome
Aggressive behavior, Hyperactivity ORPHA:75858
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Weill-Marchesani Syndrome 4
Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Iridodonesis, Shallow ... OMIM:613195
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Gliosis, Generali... ORPHA:275872
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Infant Acute Respiratory Distress Syndrome
Tachycardia, Hypotension, Cardiac arrest, Bradycardia ORPHA:70587
Developmental And Epileptic Encephalopathy 101
Limb joint contracture, Third degree atrioventricular block, Bradycardia OMIM:619814
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Quadriceps muscle weakness, Elbow flexion contracture, Facial diplegia, ... ORPHA:70
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Inability to walk, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal ... OMIM:618718
Familial Multiple Nevi Flammei
Arrhythmia, Abnormal cranial nerve morphology, Intracranial hemorrhage, Pulmonary embolism ORPHA:624
Myasthenic Syndrome, Congenital, 16
Fatigable weakness OMIM:614198
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity OMIM:615575
Takayasu Arteritis
Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Ce... ORPHA:3287
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Myopathy ORPHA:91130
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers OMIM:607831
Smooth Muscle Dysfunction Syndrome
Mydriasis OMIM:613834
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology ORPHA:1617
Combined Oxidative Phosphorylation Defect Type 39
Decreased nerve conduction velocity, Limb hypertonia, Bradycardia, Optic disc pallor, Congenital ... ORPHA:565624
Dystonia 23
Arrhythmia, Torticollis OMIM:614860
Adult-Onset Distal Myopathy Due To Vcp Mutation
Rimmed vacuoles, Necrotizing myopathy, Decreased nerve conduction velocity, Facial diplegia, Foot... ORPHA:329478
Multiminicore Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w... ORPHA:598
Amyotrophic Lateral Sclerosis
Progressive distal muscular atrophy, Skeletal muscle atrophy, Upper limb muscle weakness, Lower l... ORPHA:803
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Idiopathic Achalasia
Weight loss ORPHA:930
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... OMIM:608099
Glutamine Deficiency, Congenital
Neonatal death, Flexion contracture, Camptodactyly, Bradycardia OMIM:610015
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity ORPHA:1368
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Decreased nerve conduction velocity OMIM:183050
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Ragged-red muscle fibers, Myopathy, Weakness of facial musculature, Respiratory insufficiency due... ORPHA:352447
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy ORPHA:99014
Mohr-Tranebjaerg Syndrome
Intrinsic hand muscle atrophy, Dystonia, Abnormal posturing, Tremor OMIM:304700
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Sensory axonal neuropathy, Respiratory failure, Respiratory insufficiency OMIM:610127
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Dilatat... OMIM:609040
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... ORPHA:1329
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Sensory axonal neuropathy, Hand muscle weakness, Muscle fiber atrophy, Ragged-red ... ORPHA:254886
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Joint contracture of the 5th finger, Bradycardia OMIM:614407
Vocal Cord And Pharyngeal Distal Myopathy
Rimmed vacuoles, Amyotrophic lateral sclerosis, Shoulder girdle muscle weakness, Decreased nerve ... ORPHA:600
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity OMIM:608895
Pituitary Apoplexy
Mydriasis ORPHA:95613
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
Combined Oxidative Phosphorylation Deficiency 23
Hypertrophic cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure OMIM:616198
Cirrhotic Cardiomyopathy
Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef... ORPHA:57777
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... OMIM:615441
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity ORPHA:101078
Cardiomyopathy, Dilated, 2F
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:619747
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Ragged-red muscle fibers, Myopathy, Arrhythmia, Left ventricular hypert... OMIM:540000
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Segmental peripheral de... OMIM:601455
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Optic atrophy, Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:614299
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Cardiac arrest, Arrhythmia, Abnormal autonomic nervous system physiology ORPHA:168593
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity OMIM:619862
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Idiopathic Camptocormia
Abnormal synaptic transmission at the neuromuscular junction, Amyotrophic lateral sclerosis, Fati... ORPHA:1320
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:610532
Arachnoid Cyst
Mydriasis ORPHA:2356
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Elbow flexion contracture, Hip contracture, Exaggerated startle response, Flexion ... OMIM:617301
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Cyanosis, Choreoathetosis ORPHA:71277
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology, Distal amyotrophy, Intention tremor OMIM:215470
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity OMIM:606595
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... ORPHA:439232
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity ORPHA:1188
Severe Neurodegenerative Syndrome With Lipodystrophy
Limb dystonia, Reduced subcutaneous adipose tissue, Tremor, Myopathy, Respiratory failure ORPHA:363400
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Demy... ORPHA:99950
Immunodeficiency 95
Respiratory failure OMIM:619773
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Cachexia, Abnormality of visual evoked potentials ORPHA:1933
Igg4-Related Ophthalmic Disease
Abnormal fifth cranial nerve morphology, Abnormality of the extraocular muscles, Abnormality of i... ORPHA:449563
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Limb muscle weakness, Abnormal oligodendroglia morphology ORPHA:217260
Parkinson Disease 4, Autosomal Dominant
Weight loss, Orthostatic hypotension, Abnormal autonomic nervous system physiology OMIM:605543
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity OMIM:600361
Cardiomyopathy, Familial Hypertrophic, 17
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric... OMIM:613873
Ullrich Congenital Muscular Dystrophy 1A
Increased variability in muscle fiber diameter, Muscular dystrophy, Respiratory insufficiency, Ty... OMIM:254090
Illum Syndrome
Arthrogryposis multiplex congenita, Calcinosis, Bradycardia OMIM:208155
Smith-Magenis Syndrome
Abnormal heart morphology, Increased body weight, EEG abnormality, Abnormal nerve conduction velo... OMIM:182290
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Opisthotonus, Abnormal posturing, Generalized dystonia ORPHA:216866
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Scapuloperoneal Spinal Muscular Atrophy
Progressive distal muscular atrophy, Peroneal muscle atrophy, Scapular muscle atrophy, Respirator... OMIM:181405
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Calf muscle pseudohypertrophy, Right ventricular ... OMIM:253700
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microcornea, Iris coloboma, Chorioretinal coloboma ORPHA:231736
Non-Functioning Paraganglioma
Sinus tachycardia, Cranial nerve compression, Congestive heart failure, Cerebral hemorrhage, Posi... ORPHA:94080
D-Glyceric Aciduria
Optic nerve hypoplasia, Patent ductus arteriosus, Bradycardia OMIM:220120
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure ORPHA:1832
Synaptic Congenital Myasthenic Syndromes
Facial palsy, Abnormal synaptic transmission at the neuromuscular junction, Unfavorable response ... ORPHA:98915
Pleural Mesothelioma
Abnormal cardiovascular system physiology, Weight loss ORPHA:50251
Arterial Calcification, Generalized, Of Infancy, 2
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... OMIM:614473
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Decreased compound muscle action potential amplitude OMIM:619519
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Peripheral demyelination, Decreased compound muscle action potential amplitude, Onion bulb formation OMIM:618279
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,... ORPHA:615
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... OMIM:310600
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
Autosomal Dominant Spastic Paraplegia Type 17
Abnormal motor nerve conduction velocity ORPHA:100998
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Mitochondrial Complex I Deficiency, Nuclear Type 10
Optic atrophy, Respiratory failure OMIM:618233
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia ORPHA:40366
Presynaptic Congenital Myasthenic Syndromes
Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Intermittent episode... ORPHA:98914
Congenital Myasthenic Syndrome
Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Intermittent episode... ORPHA:590
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Weight loss ORPHA:2198
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Hydrocephalus, Congestive heart failure OMIM:300886
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... ORPHA:34516
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Congenital Muscular Dystrophy Due To Lmna Mutation
Arrhythmia, Cachexia, Congestive heart failure ORPHA:157973
Alternating Hemiplegia Of Childhood
Mydriasis ORPHA:2131
Fuchs Heterochromic Iridocyclitis
Cataract, Chorioretinal scar, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, A... ORPHA:263479
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Optic atrophy, Skeletal muscle atrophy, Motor axonal neuropathy, Neurogenic bladder, Dystonia, Ar... ORPHA:496641
Oculopharyngeal Muscular Dystrophy
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Abnormal muscle fiber morphology ORPHA:270
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Optic atrophy, Cardiomyopathy, Congestive heart failure, Limb muscle weakness, Cardiomegaly OMIM:619259
Pelizaeus-Merzbacher Disease, Connatal Form
Abnormal morphology of musculature of pharynx, Gliosis, Respiratory failure, Titubation, Lower li... ORPHA:280210
Hepatic Veno-Occlusive Disease
Jaundice, Respiratory failure ORPHA:890
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity, Acute demyelinating polyneuropathy ORPHA:3115
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Abnormal heart morphology, Failure to thrive in infancy, Decreased nerve conduction velocity, Pat... ORPHA:477817
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Axonal loss, Abnormal upper motor neuron morphology, Peripheral demyelination, Gliosis OMIM:221770
Poliomyelitis
Hypoplasia of the musculature, Myelitis, Skeletal muscle atrophy, Upper limb muscle weakness, Low... ORPHA:2912
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ... OMIM:620278
Hec Syndrome
Abnormal pupil morphology, Developmental cataract ORPHA:2119
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Congestive heart failure, Tricusp... OMIM:613426
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Abnormality of peripheral nerve conduction, Peripheral hypomyelination ORPHA:48431
Snakebite Envenomation
Erythema, Angioedema, Rhabdomyolysis, Ecchymosis, Muscle fiber necrosis, Respiratory failure ORPHA:449285
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Multiple joint contractures, Respiratory insufficiency due to muscle wea... OMIM:618291
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Optic disc pallor, Respiratory failure, Death in childhood OMIM:615838
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers OMIM:607250
Hsd10 Disease, Infantile Type
Optic atrophy, Dystonia, Cyanosis, Choreoathetosis ORPHA:391428
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Inability to walk, Aggressive behavior, Hyperactivity, Choreoathetosis OMIM:620023
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormal nerve conduction velocity ORPHA:2926
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Decr... ORPHA:98856
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Death in infancy OMIM:610992
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity OMIM:302802
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Mydriasis OMIM:619351
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Right ventricular dilatation, Wolff-Parkins... OMIM:619705
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Inappropriate laughter, Polyphagia, Hyperactivity, Ataxia ORPHA:411515
Perry Syndrome
Hypotension, Weight loss ORPHA:178509
Juvenile Huntington Disease
Broad-based gait, Gait ataxia, Hyperactivity, Ataxia, Progressive cerebellar ataxia ORPHA:248111
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai... ORPHA:1478
Combined Oxidative Phosphorylation Deficiency 3
Optic atrophy, Respiratory insufficiency, Death in childhood, Rhabdomyolysis, Death in infancy, T... OMIM:610505
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... OMIM:603830
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... OMIM:619827
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Patent ductus arteriosus, Ventricular septal defect OMIM:126320
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Increased variability in muscle fiber diameter, Optic atrophy, Skeletal muscle atrophy, Sensory a... OMIM:258450
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... OMIM:620135
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Optic atrophy, Atrioventricular block, Atrial flutter, Congestive... ORPHA:137675
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Sensory axonal neuropathy, Upper... OMIM:616924
Alexander Disease
Microcoria OMIM:203450
Bickerstaff Brainstem Encephalitis
Mydriasis, Anisocoria ORPHA:79138
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity ORPHA:101039
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Gait ataxia, Aggressive behavior, Hyperactivity, Dysphagia, Impulsivity ORPHA:500180
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Muscular dystrophy, Elbow flexion contracture, Arrhythmia, Joint contracture, Generalized amyotrophy OMIM:616516
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Bradycardia OMIM:617397
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Broad-based gait, Abnormal fear-induced behavior, Aggressive behavior, Hyperactiv... ORPHA:3077
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Splenomegaly, Arrhythmia, Hepat... OMIM:602390
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Absent muscle fiber merosin, Respiratory insufficiency, Muscle fiber atrophy,... ORPHA:258
Naxos Disease
Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ... ORPHA:34217
Fabry Disease
Congestive heart failure, Transient ischemic attack, Angina pectoris, Arrhythmia, Left ventricula... OMIM:301500
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
American Trypanosomiasis
Cardiomyopathy, Congestive heart failure, Splenomegaly, Aganglionic megacolon, Arrhythmia, Hepato... ORPHA:3386
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral myelination, Abnormal peripheral nerve morphology by anatomical site, Skeleta... ORPHA:168563
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity, Decreased numbe... OMIM:201300
Pyruvate Dehydrogenase E1-Alpha Deficiency
Tremor, Dystonia, Respiratory failure, Choreoathetosis OMIM:312170
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Phacoanaphylactic Uveitis
Posterior uveitis, Anterior chamber flare grade 1+, Panuveitis, Hypopyon, Posterior synechiae of ... ORPHA:209959
Aniridia 1
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupilla... OMIM:106210
Polyarteritis Nodosa
Cardiomyopathy, Weight loss, Raynaud phenomenon, Hypertension, Pericarditis ORPHA:767
Huntington Disease-Like 2
Weight loss ORPHA:98934
Intestinal Dysmotility Syndrome
Weight loss, Failure to thrive OMIM:620045
Leukodystrophy, Hypomyelinating, 2
Optic atrophy, Decreased motor nerve conduction velocity, Leukodystrophy, Cerebral hypomyelinatio... OMIM:608804
Congenital Neuronal Ceroid Lipofuscinosis
Gliosis, Neonatal respiratory distress, Respiratory failure ORPHA:168486
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Optic atrophy, Death in childhood, Weakness of facial musculature, Increased intramyocellular lip... OMIM:220110
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Decreased nerve conduction velocity, Optic atrophy, Demyelinating peripheral neuropathy OMIM:612674
Friedreich Ataxia
Optic atrophy, Decreased amplitude of sensory action potentials, Abnormal EKG, Hypertrophic cardi... OMIM:229300
Inflammatory Bowel Disease 11
Hematochezia, Weight loss OMIM:191390
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Machado-Joseph Disease Type 3
Skeletal muscle atrophy, Spinocerebellar tract degeneration, Distal lower limb amyotrophy, Substa... ORPHA:276244
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... ORPHA:3193
Ebstein Malformation Of The Tricuspid Valve
Congestive heart failure, Cerebral ischemia, Right bundle branch block, Imperforate tricuspid val... ORPHA:1880
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Symmetrical Thalamic Calcifications
Arrhythmia ORPHA:1314
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Syncope, Ventricular fibrillation, Prolonged QTc interval ORPHA:90647
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Increased variability in muscle fibe... OMIM:617228
Short Qt Syndrome 1
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... OMIM:609620
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Astrocytosis ORPHA:100070
Axenfeld-Rieger Syndrome, Type 3
Ectopia pupillae, Posterior embryotoxon, Posterior synechiae of the anterior chamber, Hypoplasia ... OMIM:602482
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Cachexia, Weight loss, Demyelinating peripheral neurop... ORPHA:298
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Achilles tendon contracture OMIM:607225
Diaphragmatic Hernia 5, X-Linked
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Acromicric Dysplasia
Decreased nerve conduction velocity ORPHA:969
Yuan-Harel-Lupski Syndrome
Failure to thrive, Decreased nerve conduction velocity, Ventricular septal defect, Bicuspid aorti... OMIM:616652
Infantile Sialic Acid Storage Disease
Congestive heart failure, Splenomegaly, Cardiomegaly, Hydrocephalus, Hepatomegaly OMIM:269920
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Distal amyotrophy, Generalized dystonia, Motor axonal neuropathy, Tremor, Abnormal... OMIM:614298
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia OMIM:600649
Lethal Congenital Contracture Syndrome 9
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint... OMIM:616503
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Abnormal myelination ORPHA:85179
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Umbilical hernia, Bradycardia ORPHA:226313
Autosomal Recessive Spastic Paraplegia Type 25
Abnormality of peripheral nerve conduction ORPHA:101005
Unilateral Ocular Duplication
Microcornea, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Diencephalic Syndrome
Optic atrophy, Cachexia, Decreased body weight ORPHA:1672
Propionic Acidemia
Hepatomegaly, Arrhythmia, Cardiomyopathy ORPHA:35
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Joint contracture of the hand, Cardiomyopathy, Hypertrophic cardiomyopat... OMIM:300280
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnorm... ORPHA:1055
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
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity, Leukodystrophy OMIM:619851
Neuroendocrine Tumor Of The Colon
Abnormal pulmonary valve cusp morphology, Hypotension, Right ventricular failure, Tricuspid regur... ORPHA:100080
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Cachexia, Abnormal autonomic nervous system physiology, Optic ... ORPHA:97229
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:613327
Familial Thyroid Dyshormonogenesis
Macroglossia, Umbilical hernia, Bradycardia ORPHA:95716
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop... ORPHA:732
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Chemodectoma, Palpitations, Carotid paraganglioma, Hypertension associated w... OMIM:168000
Isolated Atp Synthase Deficiency
Optic atrophy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Arrhythmia, Hepatomegaly ORPHA:254913
Cocaine Intoxication
Mydriasis ORPHA:90068
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:212140
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Decreased nerve conduction velocity, Failure to thrive OMIM:618356
Chronic Hiccup
Weight loss ORPHA:396
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Palpitations, Weight loss OMIM:188580
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Increased variability in muscle fiber diameter, Postural tremor, Tremor, Weaknes... OMIM:619790
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Scheie Syndrome
Aortic regurgitation, Abnormal nerve conduction velocity ORPHA:93474
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cervical myelopathy, Myelopathy, Death in childhood, Tremor, Torticollis, Respiratory failure OMIM:617186
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... ORPHA:99095
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Hypert... OMIM:616501
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Skeletal muscle atrophy, Bradycardia OMIM:619272
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Respiratory insufficiency, Ragged-red muscle fibers, Death in infancy, C... OMIM:252010
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... OMIM:310440
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased number of large peripheral myelinated nerve fibers, Decreased sensory nerve conduction ... OMIM:162400
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Pulmonary embolism, Rhabdomyolysis, Arrhythmia, Abnormal autono... ORPHA:94093
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Decreased distal sensory nerve action potential OMIM:618400
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Shoulder girdle muscle... ORPHA:206436
Combined Oxidative Phosphorylation Deficiency 11
Death in childhood, Myopathy, Neonatal death, Death in infancy, Stillbirth, Respiratory failure OMIM:614922
Short Syndrome
Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Posterior embryotoxon, Abnormal ... ORPHA:3163
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Chemodectoma, Palpitations, Hypertension associated with pheochrom... OMIM:605373
Al Amyloidosis
Abnormal cardiac ventricle morphology, Gastrointestinal hemorrhage, Macroglossia, Postural hypote... ORPHA:85443
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Decreased nerve conduction velocity, Peripheral demyelination, Short-segment aganglionic megacolo... OMIM:609136
Isolated Succinate-Coq Reductase Deficiency
Abnormal atrioventricular conduction, Hypertrophic cardiomyopathy, Noncompaction cardiomyopathy, ... ORPHA:3208
Muscular Dystrophy, Duchenne Type
Muscular dystrophy, Hamstring contractures, Knee flexion contracture, Calf muscle hypertrophy, Ac... OMIM:310200
Cap Myopathy
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Abnormal muscle fiber... ORPHA:171881
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Necrotizing Enterocolitis
Abnormal heart morphology, Hypotension, Shock, Bradycardia ORPHA:391673
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
Scorpion Envenomation
Miosis, Mydriasis ORPHA:466677
Allergic Bronchopulmonary Aspergillosis
Pulmonary arterial hypertension, Weight loss ORPHA:1164
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Hereditary Methemoglobinemia
Athetosis, Limb dystonia, Cyanosis ORPHA:621
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Weight loss, Failure to thrive OMIM:612075
Oculopalatocerebral Syndrome
Leukocoria OMIM:257910
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Decreased nerve conduction velocity ORPHA:435387
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Metatropic Dysplasia
Respiratory insufficiency, Peripheral axonal neuropathy, Flexion contracture, Arthrogryposis mult... OMIM:156530
Refsum Disease, Classic
Cardiomyopathy, Congestive heart failure, Limb muscle weakness, Cardiomegaly, Arrhythmia OMIM:266500
Chromosome 16Q12 Duplication Syndrome
Cataract, Anisocoria OMIM:619649
Ataxia-Pancytopenia Syndrome
Decreased nerve conduction velocity OMIM:159550
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Failure to thrive in infancy, Decreased sensory nerve conduction velocity, Decreased motor nerve ... OMIM:619026
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal sensory nerve conduction velocity, Axonal degeneration, Abnormal peripheral nerve morpho... ORPHA:88628
Craniotubular Dysplasia, Ikegawa Type
Mydriasis OMIM:619727
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se... OMIM:618652
Neuroendocrine Tumor Of The Rectum
Hematochezia, Hypotension, Abnormal pulmonary valve cusp morphology, Right ventricular failure, T... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Hypotension, Abnormal pulmonary valve cusp morphology, Right ventricular failure, T... ORPHA:100082
Juvenile Amyotrophic Lateral Sclerosis
Upper-limb joint contracture, Distal amyotrophy, Skeletal muscle atrophy, Arm dystonia, Amyotroph... ORPHA:300605
Hemochromatosis, Type 1
Cardiomyopathy, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomegaly, Arrhythmia,... OMIM:235200
Avian Influenza
Myelitis, Rhabdomyolysis, Respiratory failure, Hypoxemia, Miscarriage ORPHA:454836
Linear Skin Defects With Multiple Congenital Anomalies 2
Optic disc pallor, Congenital diaphragmatic hernia OMIM:300887
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis, Skeletal muscle atrophy ORPHA:2400
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased nerve conduction velocity, Failure to thrive OMIM:238970
Amyloidosis, Hereditary Systemic 1
Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Peripheral axonal neuropath... OMIM:105210
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Hydrocephalus ORPHA:858
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Respiratory failure OMIM:263000
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Optic atrophy, Cyanosis OMIM:261680
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Cardiomegaly, Pulm... OMIM:619051
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Ventricular septal defect, Bradycardia, Retinal hemorrhage, Tachycardia, Flexion contracture, Hyp... OMIM:614653
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity OMIM:618138
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Atrial flutter, Contractures of the large joints, Congestive heart failure... ORPHA:324410
Familial Isolated Restrictive Cardiomyopathy
Tricuspid regurgitation, Hypertrophic cardiomyopathy, Mitral regurgitation, Pulmonary venous hype... ORPHA:75249
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve pro... ORPHA:228410
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co... ORPHA:1686
Charcot-Marie-Tooth Disease Type 1F
Demyelinating sensory neuropathy, Mixed demyelinating and axonal polyneuropathy, Decreased nerve ... ORPHA:101085
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory failure, Hypoglycosylation of alpha-dystroglycan OMIM:620166
Axenfeld-Rieger Syndrome, Type 1
Microcornea, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Hypoplasia of... OMIM:180500
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Hydrocephalus, Stillbirth, Aqueductal stenosis, Respiratory failure OMIM:276950
Graves Disease
Weight loss, Congestive heart failure OMIM:275000
Leigh Syndrome
Optic atrophy, Skeletal muscle atrophy, Sensory axonal neuropathy, Multiple joint contractures, M... ORPHA:506
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Mulibrey Nanism
Cachexia ORPHA:2576
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Arrhythmia ORPHA:1808
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Left ventricular hypertrophy, Respiratory failure, Right ventricular hypertrophy ORPHA:444013
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly OMIM:619064
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Flexion contracture, Respiratory failure, Death in infancy, Camptodactyly of finger ORPHA:1194
Congenital Myopathy 21 With Early Respiratory Failure
Respiratory failure, EMG: myopathic abnormalities OMIM:620326
Mulibrey Nanism
Congestive heart failure, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis OMIM:253250
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... OMIM:611878
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita... ORPHA:70591
Bronchial Neuroendocrine Tumor
Abnormal pulmonary valve cusp morphology, Hypotension, Cardiogenic shock, Right ventricular failu... ORPHA:97287
Breath-Holding Spells
Cyanosis OMIM:607578
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Aortic Aneurysm, Familial Thoracic 6
Iris flocculi OMIM:611788
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Abnormal myelination ORPHA:352682
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Telangiectasia of the skin, Cutaneous photosensitivity, Congenital diaphragmatic hernia, Retinal ... ORPHA:438134
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, Cyanotic episode, Limb joint contracture, Knee flexion contracture ORPHA:284417
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Sporadic Pheochromocytoma/Secreting Paraganglioma
Extraadrenal pheochromocytoma, Sinus tachycardia, Cranial nerve compression, Congestive heart fai... ORPHA:276621
Bohring-Opitz Syndrome
Optic atrophy, Congenital contracture, Cardiomegaly, Abnormal cardiac septum morphology, Bradycar... ORPHA:97297
Short Qt Syndrome 7
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death OMIM:620231
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Limb dystonia, Death in childhood, Opisthotonus, Gliosis, Respiratory failure OMIM:619847
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Hypoxemia, Cyanosis, Abnormal hemidiaphragm morphology ORPHA:2257
Idiopathic Bronchiectasis
Cachexia, Myocardial infarction ORPHA:60033
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Myopathy, Cardiomegaly, Distal arthrogryposis, Arrhythmia, Hepatomegaly ORPHA:42
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Tricuspid regurgitation, Palpitations, Bicuspid aortic valve, Increased lef... OMIM:620067
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Onion bulb formation, Decreased number of peripheral m... OMIM:302800
Rhabdoid Tumor
Weight loss, Hypertension, Internal hemorrhage ORPHA:69077
Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,... ORPHA:35689
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi... ORPHA:555874
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology ORPHA:139578
Oculocerebrofacial Syndrome, Kaufman Type
Optic atrophy, Respiratory failure ORPHA:2707
Multiple Acyl-Coa Dehydrogenase Deficiency
Cardiorespiratory arrest, Skeletal muscle atrophy, Rhabdomyolysis, Increased intramyocellular lip... ORPHA:26791
Lethal Congenital Contracture Syndrome 2
Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Respiratory failure OMIM:607598
Posterior Column Ataxia With Retinitis Pigmentosa
Decreased sensory nerve conduction velocity, Optic atrophy, Peripheral demyelination, Achalasia OMIM:609033
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Ventricular bigeminy, Limb muscle weakness, Arrhythmia, Left bundle branch block, Facial palsy OMIM:610131
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Facial palsy, Increased endomysial connective tissue, Myopathy OMIM:602541
Bone Dysplasia, Lethal Holmgren Type
Hypertrophic cardiomyopathy, Weight loss, Atrial septal defect, Failure to thrive ORPHA:1842
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal... ORPHA:91495
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Lethal Ataxia With Deafness And Optic Atrophy
Optic atrophy, Decreased motor nerve conduction velocity, Spinal cord posterior columns myelin lo... ORPHA:1187
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity OMIM:613724
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Abnormal myelination, Small for gestational age, EEG with multifocal slow activity ORPHA:289266
Myasthenia Gravis
Facial palsy, Fatigable weakness OMIM:254200
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral demyelination, Decreased motor nerve conduction velocity, Peripheral hypomyelination OMIM:604168
Phosphoribosylpyrophosphate Synthetase Superactivity
Arrhythmia, Hypertension, Cardiomyopathy ORPHA:3222
Retinitis Pigmentosa 97
Iris atrophy OMIM:620422
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology OMIM:243000
Systemic Capillary Leak Syndrome
Hypotension, Arrhythmia, Weight loss, Myocarditis, Pericarditis ORPHA:188
Congenital Fibrinogen Deficiency
Bruising susceptibility, Subcutaneous hemorrhage, Cyanosis, Opisthotonus, Left ventricular hypert... ORPHA:335
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Abnormal heart morphology, Splenomegaly, Abnormal... ORPHA:398124
Sandhoff Disease
Skeletal muscle atrophy, Hepatosplenomegaly, Cardiomegaly, Orthostatic hypotension, Hepatomegaly,... OMIM:268800
Hurler Syndrome
Abnormal nerve conduction velocity, Cardiomyopathy, Abnormal heart valve morphology, Endocardial ... ORPHA:93473
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Decreased nerve conduction velocity, Hypsarrhythmia, EEG abnormality, Optic disc p... ORPHA:485421
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Niemann-Pick Disease, Type C2
Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, P... OMIM:607625
Chromosome 6Q24-Q25 Deletion Syndrome
Tricuspid regurgitation, Mitral valve prolapse, Dysplastic tricuspid valve, Persistent fetal circ... OMIM:612863
Liddle Syndrome
Arrhythmia, Cerebral ischemia, Hypertension ORPHA:526
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Jaundice, Respiratory failure OMIM:250940
Combined Oxidative Phosphorylation Deficiency 4
Opisthotonus, Respiratory failure, Death in infancy OMIM:610678
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Myositis, Muscular edema, Eosinophilia, Acrocyanosis ORPHA:3165
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Cyanosis, Death in infancy, Neonatal death, Respiratory failure OMIM:265120
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers OMIM:615490
Huntington Disease-Like 1
Gliosis, Abnormal posturing ORPHA:157941
Hemochromatosis, Type 4
Hepatomegaly, Arrhythmia, Cardiomyopathy OMIM:606069
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Limb hypertonia, Exaggerated startle response, Limb joint contracture, Respiratory failure OMIM:620327
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Hypermyelinated retinal nerve fibers, Decreased number... OMIM:270550
Cutis Marmorata Telangiectatica Congenita
Leukocoria OMIM:219250
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials OMIM:616688
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor... ORPHA:1457
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia, Weight loss OMIM:613239
Cap Polyposis
Hematochezia, Weight loss ORPHA:160148
Neuraminidase Deficiency
Skeletal muscle atrophy, Cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly OMIM:256550
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Type 2 muscle fiber atrophy, Respiratory failure, Respiratory insufficiency OMIM:613845
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Dk1-Cdg
Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Interstitial cardiac... ORPHA:91131
Asbestos Intoxication
Cyanosis, Oxygen desaturation on exertion, Hypoxemia, Respiratory failure ORPHA:2302
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Exercise-induced rhabdom... OMIM:201475
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Motor stere... OMIM:610042
Nephroblastoma
Weight loss, Hypertension ORPHA:654
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
Combined Oxidative Phosphorylation Deficiency 37
Optic atrophy, Respiratory failure, Respiratory insufficiency OMIM:618329
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Bradycardia ORPHA:91355
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart valv... ORPHA:363705
Congenital Fiber-Type Disproportion Myopathy
Ankle flexion contracture, Hypoplasia of the musculature, Shoulder girdle muscle weakness, Elbow ... ORPHA:2020
Von Hippel-Lindau Disease
Upper limb muscle weakness, Cardiomyopathy, Palpitations, Hypertension, Myocardial infarction, Ar... ORPHA:892
Huntington Disease-Like 2
Weight loss OMIM:606438
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology, Resting tremor, Generalized amyotrophy OMIM:601162
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, Myopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Cardiac arrest OMIM:617713
Moynahan Syndrome
Cachexia ORPHA:2574
Ebstein Anomaly
Atrial standstill, Ebstein anomaly of the tricuspid valve, Right bundle branch block, Atrial sept... OMIM:224700
Lujo Hemorrhagic Fever
Hypotension, Shock, Bradycardia, Myocarditis, Subconjunctival hemorrhage ORPHA:319213
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Respiratory insufficiency ORPHA:93941
Hirschsprung Disease
Failure to thrive in infancy, Aganglionic megacolon, Weight loss ORPHA:388
Spastic Paraplegia 17, Autosomal Dominant
Decreased motor nerve conduction velocity OMIM:270685
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Optic atrophy, Arrhythmia, Cerebral ischemia ORPHA:60040
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity OMIM:118300
Crimean-Congo Hemorrhagic Fever
Epistaxis, Diffuse alveolar hemorrhage, Hypotension, Melena, Subdural hemorrhage, Subconjunctival... ORPHA:99827
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Increased variability in muscle fiber diameter, Muscular dystrophy, Respiratory failure, Hydrocep... OMIM:616538
Thymic Carcinoma
Fatigable weakness ORPHA:99868
Carnitine Palmitoyl Transferase 1A Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia, Hepatomegaly, Sudden cardiac death ORPHA:156
Japanese Encephalitis
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Pill-rolling tremor, Elbow fl... ORPHA:79139
Proteus-Like Syndrome
Heterochromia iridis, Cataract, Abnormal pupil morphology, Limbal dermoid ORPHA:2969
Spinal Muscular Atrophy, X-Linked 2
Facial palsy, Decreased compound muscle action potential amplitude OMIM:301830
Absence Of The Pulmonary Artery
Atrial flutter, Abnormal hemidiaphragm morphology, Congestive heart failure, Abnormal heart morph... ORPHA:980
Optic Atrophy 11
Optic atrophy, EEG with focal sharp waves, Facial diplegia, Delayed CNS myelination, Decreased se... OMIM:617302
Cantu Syndrome
Congenital hypertrophy of left ventricle, Cardiomegaly, Bicuspid aortic valve, Pericardial effusi... OMIM:239850
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Optic atrophy, Decreased motor nerve conduction velocity OMIM:615419
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... OMIM:620066
Neuroendocrine Tumor Of Stomach
Abnormal pulmonary valve cusp morphology, Hypotension, Cardiogenic shock, Right ventricular failu... ORPHA:100075
Yao Syndrome
Ventricular hypertrophy, Weight loss, Pericarditis OMIM:617321
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Hypovolemic shock, Arrhythmia, Weight loss ORPHA:171876
Multifocal Motor Neuropathy
Motor conduction block ORPHA:641
Alg1-Cdg
Respiratory failure ORPHA:79327
Immunodeficiency 54
Respiratory failure, Respiratory insufficiency OMIM:609981
Glycogen Storage Disease Ii
Firm muscles, Sinus tachycardia, Limb muscle weakness, Splenomegaly, Shortened PR interval, Cardi... OMIM:232300
Sialidosis Type 1
Decreased nerve conduction velocity, EEG abnormality ORPHA:812
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Sensory axonal neuropath... OMIM:157640
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Abnormal posturing, Hypomimic face, Dystonia, Titubation ORPHA:225147
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Macroglossia, Hypertrophic cardiomyopathy, Facial hypotonia, Shortened PR interval, Cardiomegaly,... ORPHA:308552
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Weight loss ORPHA:103910
Reticular Dysgenesis
Weight loss, Failure to thrive ORPHA:33355
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Leukodystrophy, Decreased nerve conduction velocity, Orthostatic hypotension due t... ORPHA:309271
Neurodegeneration With Brain Iron Accumulation 2A
Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials OMIM:256600
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal pericardium morpholog... ORPHA:183
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Failure to thrive, Peripheral dysmyelination,... OMIM:133540
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Limb-girdle muscular dystrophy, Right ventricular dilatation, Myopathy ORPHA:369847
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia, Abnormality of visual evoked potentials ORPHA:1389
Sandestig-Stefanova Syndrome
Camptodactyly, Respiratory failure OMIM:618804
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Mitochondrial Trifunctional Protein Deficiency 1
Rhabdomyolysis, Respiratory failure, Myopathy, Respiratory insufficiency OMIM:609015
Idiopathic Pulmonary Hemosiderosis
Diffuse alveolar hemorrhage, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Heart murmur ORPHA:99931
Tricuspid Atresia
Cyanosis ORPHA:1209
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Iris ... OMIM:612109
Encephalitis Lethargica
Upper limb muscle weakness, Bradycardia ORPHA:83600
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Peripheral demyelination, Optic atrophy OMIM:250100
Mogs-Cdg
Optic atrophy, Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Absent brainstem a... ORPHA:79330
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Exercise-induced rhabdomyolysis, Patent foramen o... ORPHA:26793
Metachromatic Leukodystrophy, Late Infantile Form
Optic atrophy, Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Leuk... ORPHA:309256
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res... ORPHA:275766
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Neonatal respiratory distress, Respiratory insufficiency, Elbow flexion contracture, Increased mu... OMIM:608836
Distal Deletion 6P
Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnormal anterior chamber morpho... ORPHA:96125
Pneumocystosis
Respiratory failure requiring assisted ventilation, Hypoxemia, Respiratory failure, Respiratory i... ORPHA:723
Aicardi-Goutieres Syndrome 9
Optic atrophy, Failure to thrive, Portal hypertension, Left ventricular hypertrophy, Delayed CNS ... OMIM:619487
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Arteritis, Abnormal pericardium morphology, Ischemic stroke, Telangi... ORPHA:679
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity OMIM:614436
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Facial palsy, Skeletal muscle atrophy, Abnormal muscle fiber morphology ORPHA:3068
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Petechiae, Purpura, Respiratory failure, Vasculitis in the skin OMIM:620296
Hypothyroidism Due To Tsh Receptor Mutations
Macroglossia, Umbilical hernia, Bradycardia ORPHA:90673
Charcot-Marie-Tooth Disease Type 1E
Abnormal pupil morphology, Slow pupillary light response, Tonic pupil, Anisocoria ORPHA:90658
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Plague
Conjunctival hyperemia, Mydriasis ORPHA:707
Late-Onset Retinal Degeneration
Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretinal atrophy, Ab... ORPHA:67042
Mitochondrial Trifunctional Protein Deficiency
Lower limb muscle weakness, Respiratory insufficiency, Rhabdomyolysis, Skeletal myopathy, Left ve... ORPHA:746
Metachromatic Leukodystrophy, Juvenile Form
Optic atrophy, Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Leuk... ORPHA:309263
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Rhabdomyolysis, Respiratory insufficiency ORPHA:159
Erythrokeratodermia Variabilis
Weight loss ORPHA:317
Dravet Syndrome
Action tremor, Cyanotic episode ORPHA:33069
Sepsis In Premature Infants
Tachycardia, Hypotension, Bradycardia ORPHA:90051
Central Diabetes Insipidus
Weight loss, Failure to thrive ORPHA:178029
Cardiogenic Shock
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... ORPHA:97292
Typhoid
Epistaxis, Gastrointestinal hemorrhage, Splenomegaly, Arrhythmia, Hepatomegaly, Cardiac arrest ORPHA:99745
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Glycogen Storage Disease Due To Aldolase A Deficiency
Decreased muscle mass, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, Skeletal myopathy, ... ORPHA:57
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Adult Acute Respiratory Distress Syndrome
Hypoxemia, Abnormal blood gas level, Respiratory failure ORPHA:70578
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Congestive heart failure, Decreased muscle mass, Portal hypertension, Splenomegal... ORPHA:465508
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Decreased amplitude of sensory action potentials, Peripheral... OMIM:618733
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Skeletal muscle atrophy, Mitral valve prolapse, Arrhythmia, Spina bi... ORPHA:230839
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypotension, Pulmonary arterial hypertension, Bradycardia, Tachycardia, Cardiac arrest OMIM:277400
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia OMIM:616949
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Dilated cardiomyopathy, Rhabdomyolysis, Ventricular septal defect, ... OMIM:614921
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Quadriceps muscle weakness, Shoulder girdle muscle weakness, Reduced left... ORPHA:254892
Surfactant Metabolism Dysfunction, Pulmonary, 3
Neonatal respiratory distress, Cyanosis, Death in infancy, Neonatal death, Hypoxemia, Respiratory... OMIM:610921
Acquired Methemoglobinemia
Tachycardia, Arrhythmia, Palpitations, Syncope ORPHA:464453
Familial Aortic Dissection
Cardiomegaly, Aortic regurgitation, Patent ductus arteriosus, Abnormal left ventricular function ORPHA:229
Infantile Neuroaxonal Dystrophy
Optic atrophy, Abnormality of visual evoked potentials, Abnormality of peripheral nerve conductio... ORPHA:35069
Rheumatic Fever
Epistaxis, Abnormal heart valve morphology, Abnormal mitral valve morphology, Abnormal aortic val... ORPHA:3099
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Neonatal respiratory distress, Resp... OMIM:608647
Acute Interstitial Pneumonia
Cyanosis, Hypoxemia, Respiratory failure ORPHA:79126
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Congenital Fibrosis Of Extraocular Muscles
Cataract, Abnormal pupil shape, Slow pupillary light response, Miosis, Anisocoria ORPHA:45358
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Opisthotonus, Cyanosis, Tremor OMIM:250800
Congenital Pulmonary Lymphangiectasia
Cyanosis ORPHA:2414
Giant Cell Arteritis
Optic atrophy, Vasculitis, Epistaxis, Double outlet right ventricle with subpulmonary ventricular... ORPHA:397
Oculopharyngodistal Myopathy 1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Hypercapnia, Distal amyotrophy, ... OMIM:164310
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity ORPHA:397744
Deafness-Lymphedema-Leukemia Syndrome
Bruising susceptibility, Respiratory failure ORPHA:3226
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Palmoplantar cutis laxa, Respiratory failure, Hydrocephalus, Neonatal death OMIM:616482
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Failure to thrive, Peripheral dysmyelination,... OMIM:216400
Familial Dysautonomia
Heterochromia iridis, Abnormal pupil morphology, Corneal erosion, Corneal opacity ORPHA:1764
Xeroderma Pigmentosum, Complementation Group B
Abnormal CNS myelination, Decreased nerve conduction velocity, Optic atrophy OMIM:610651
8P23.1 Microdeletion Syndrome
Hypoplastic left heart, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Atrioventricular canal ... ORPHA:251071
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Primary Triglyceride Deposit Cardiomyovasculopathy
Rimmed vacuoles, Cardiomyopathy, Coronary artery stenosis, Abnormal cardiomyocyte morphology, Pal... ORPHA:565612
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Failure to thrive, Hypsarrhythmia, EEG with multifocal slow activity, Abnormal mye... ORPHA:442835
Tetrasomy 5P
Cyanosis, Aplasia/Hypoplasia of the abdominal wall musculature, Hydrocephalus ORPHA:3309
Focal Myositis
Weight loss ORPHA:48918
Erythrokeratodermia Variabilis Et Progressiva 6
Arrhythmia OMIM:618531
Neuroblastoma, Susceptibility To, 1
Horner syndrome, Weight loss, Hypertension, Failure to thrive OMIM:256700
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Follicular Lymphoma
Weight loss ORPHA:545
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure OMIM:619483
Alexander Disease Type I
Cachexia, Failure to thrive ORPHA:363717
Fabry Disease
Optic atrophy, Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Bun... ORPHA:324
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Opisthotonus, Limb hypertonia, Cyanosis, Choreoathetosis OMIM:619580
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Positive regitine blocking test, Pheochromocytoma, Episodic hypertensio... OMIM:171420
Boutonneuse Fever
Petechiae, Respiratory failure ORPHA:83313
Cockayne Syndrome Type 1
Optic atrophy, Failure to thrive, Abnormality of peripheral nerve conduction, Absent brainstem au... ORPHA:90321
Juvenile Glaucoma
Abnormality iris morphology, Abnormal anterior chamber morphology ORPHA:98977
Rheumatoid Arthritis
Vasculitis, Weight loss OMIM:180300
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 11
Decreased compound muscle action potential amplitude OMIM:620528
Pheochromocytoma/Paraganglioma Syndrome 4
Chemodectoma, Palpitations, Hypertension associated with pheochromocytoma, Adrenal pheochromocyto... OMIM:115310
Rett Syndrome
Cachexia, Prolonged QTc interval, EEG abnormality, Abnormal T-wave OMIM:312750
Hydrops Fetalis
Abnormal heart morphology, Arrhythmia, Pericardial effusion, Capillary leak ORPHA:1041
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Arrhythmia, Mildly reduced left ventricular ejection fraction OMIM:618098
Cutis Laxa, Autosomal Recessive, Type Ib
Tricuspid regurgitation, Congenital diaphragmatic hernia, Neonatal death, Hypoplasia of the diaph... OMIM:614437
Combined Oxidative Phosphorylation Deficiency 39
Congenital contracture, Sinus bradycardia, Joint contracture, Flexion contracture, Arthrogryposis... OMIM:618397
Acute Lung Injury
Hypoxemia, Respiratory failure ORPHA:178320
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Macroglossia, Bradycardia, Optic nerve hypoplasia ORPHA:226307
Hypercalcemia, Infantile, 1
Weight loss, Failure to thrive OMIM:143880
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Flexion contracture, Cardiomegaly, Ventricular septal defect OMIM:616897
Mast Cell Sarcoma
Weight loss ORPHA:66661
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure ORPHA:2759
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Arrhythmia, Cardiomegaly OMIM:255120
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Pulmonary arterial hypertension, Hypertension OMIM:613320
Alagille Syndrome
Keratoconus, Abnormal pupil morphology, Corneal dystrophy ORPHA:52
S-Adenosylhomocysteine Hydrolase Deficiency
Muscular dystrophy, Respiratory failure ORPHA:88618
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Mixed demyelinating and axonal polyneuropathy, Abnormal motor nerve conduction velocity, Abnormal... ORPHA:466768
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Optic atrophy, Abnormal EKG, Arrhythmia, Prolonged QT interval, Acute rhabdomyolysis, EMG: myopat... ORPHA:480864
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Abnormality iris morphology, Megalocornea ORPHA:370959
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Thrombotic Thrombocytopenic Purpura
Arrhythmia, Myocardial infarction ORPHA:54057
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Cardiomyopathy, Myopathy, Rhabdomyolysis, Arrhythmia, Hepatomegaly ORPHA:228305
Subaortic Stenosis-Short Stature Syndrome
Membranous subvalvular aortic stenosis, Arrhythmia, Subvalvular aortic stenosis ORPHA:3191
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis ORPHA:2004
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Cataract, Microcornea, Ectopia pupillae OMIM:615877
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Congenital diaphragmatic hernia, Spina bifida, Respiratory insufficiency ORPHA:1120
Renal Nutcracker Syndrome
Syncope, Weight loss, Orthostatic hypotension, Abnormal autonomic nervous system physiology, Tach... ORPHA:71273
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Abnormal pericardium morphology, Weight loss, Congestive heart failure ORPHA:67
Familial Thrombocytosis
Transient ischemic attack, Cerebral ischemia, Pulmonary arterial hypertension, Syncope, Weight loss ORPHA:71493
Ataxia With Vitamin E Deficiency
Hypertrophic cardiomyopathy, Arrhythmia, Skeletal muscle atrophy ORPHA:96
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae, Death in infancy OMIM:602473
Schisis Association
Encephalocele, Anencephaly, Congenital diaphragmatic hernia, Spina bifida ORPHA:63862
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Hereditary Pheochromocytoma-Paraganglioma
Sinus tachycardia, Congestive heart failure, Cranial nerve compression, Positive regitine blockin... ORPHA:29072
High Altitude Pulmonary Edema
Hypoxemia, Cyanosis ORPHA:330012
Polycythemia Vera
Epistaxis, Gastrointestinal hemorrhage, Pulmonary embolism, Budd-Chiari syndrome, Portal hyperten... ORPHA:729
Isolated Thyroid-Stimulating Hormone Deficiency
Macroglossia, Umbilical hernia, Bradycardia ORPHA:90674
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Simple Cryoglobulinemia
Vasculitis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart morphology, Wei... ORPHA:91139
Duane Retraction Syndrome
Microcornea, Chorioretinal coloboma, Central heterochromia, Aniridia, Abnormal pupil morphology, ... ORPHA:233
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def... OMIM:620642
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Diastasis recti, Wrist flexion contracture, Flexion contracture of finger, Camptodactyly, Macrogl... ORPHA:254528
Gm1 Gangliosidosis
Optic atrophy, Failure to thrive, Cardiomyopathy, Congestive heart failure, Abnormal heart morpho... ORPHA:354
Unilateral Polymicrogyria
Cyanosis, Abnormal posturing, Giant somatosensory evoked potentials ORPHA:268943
Histidinemia
Hyperactivity ORPHA:2157
Pfapa Syndrome
Weight loss ORPHA:42642
Ileal Neuroendocrine Tumor
Hypotension, Cardiogenic shock, Right ventricular failure, Arterial occlusion, Palpitations, Arrh... ORPHA:100078
Juvenile Dermatomyositis
Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Angina pectoris, Ar... ORPHA:93672
Cerebrotendinous Xanthomatosis
Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality... ORPHA:909
Agel Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Facial palsy, Cardiomyopathy ORPHA:85448
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Aq... OMIM:306955
Spontaneous Periodic Hypothermia
Arrhythmia ORPHA:29822
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing OMIM:614857
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Macroglossia, Lower limb muscle weakness, Hypertrophic cardiomyopathy, Transient isch... ORPHA:365
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic disc pallor, Decreased motor nerve conduction velocity, Optic atrophy, Abnormality of visua... OMIM:601152
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Astigmatism, Ectopia pupillae OMIM:618727
Double Outlet Left Ventricle
Abnormal right ventricular function, Cardiomegaly, Ventricular septal defect, Bicuspid pulmonary ... ORPHA:3427
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Opisthotonus, Cyanosis ORPHA:3304
Barth Syndrome
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgit... OMIM:302060
Staphylococcal Necrotizing Pneumonia
Hypoxemia, Respiratory failure ORPHA:36238
Pagod Syndrome
Hypoplastic left heart, Optic atrophy, Situs inversus totalis, Encephalocele, Congenital diaphrag... ORPHA:991
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Inflammatory myopathy, Myopathy, Abnormal muscle fiber morphology, EMG: myopa... OMIM:123320
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Respiratory failure ORPHA:1861
Myasthenia, Limb-Girdle, Autoimmune
Fatigable weakness OMIM:159400
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Poems Syndrome
Plethora, Papilledema, Acrocyanosis, Respiratory insufficiency due to muscle weakness ORPHA:2905
Mercury Poisoning
Dystonia, Respiratory failure, Tremor ORPHA:330021
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Joint contracture of the hand, Hydrocephalus, Abnormal muscle fiber morphology OMIM:175700
3-Methylglutaconic Aciduria Type 7
Opisthotonus, Respiratory failure, Choreoathetosis ORPHA:445038
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Spinocerebellar Ataxia 10
Decreased nerve conduction velocity OMIM:603516
Pseudo-Torch Syndrome 3
Cardiomegaly, Hypertension, Cerebral hemorrhage OMIM:618886
Spinocerebellar Ataxia 1
Optic atrophy, Decreased motor nerve conduction velocity, Decreased amplitude of sensory action p... OMIM:164400
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis ORPHA:1302
Joubert Syndrome 21
Optic atrophy, Occipital encephalocele, Encephalocele, Megalopapilla, Respiratory failure OMIM:615636
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Congenital Diaphragmatic Hernia
Hypoxemia, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm ORPHA:2140
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Weight loss ORPHA:411703
Marburg Hemorrhagic Fever
Hypotension, Subconjunctival hemorrhage, Shock, Capillary leak, Internal hemorrhage, Bradycardia,... ORPHA:99826
Aggressive Systemic Mastocytosis
Hypotension, Gastrointestinal hemorrhage, Weight loss, Portal hypertension ORPHA:98850
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Hypertension, Myocardial infarction OMIM:208000
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Arrhythmia, Transposition of the great arteries, Paroxy... OMIM:617877
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Respiratory failure ORPHA:542323
Mcdonough Syndrome
Cachexia ORPHA:2471
Ethylene Glycol Poisoning
Facial palsy, Cyanosis ORPHA:31826
Nephronophthisis 11
Anisocoria OMIM:613550
Mucopolysaccharidosis Type 2
Optic atrophy, Cardiomyopathy, Abnormal heart morphology, Abnormal heart valve morphology, Decrea... ORPHA:580
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure OMIM:617895
Flynn-Aird Syndrome
Cachexia, EEG abnormality ORPHA:2047
Gaucher Disease, Type Iiic
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... OMIM:231005
Noonan Syndrome 5
Hypertrophic cardiomyopathy, Arrhythmia, Atrial septal defect, Pulmonic stenosis OMIM:611553
Halperin-Birk Syndrome
Optic atrophy, Semilobar holoprosencephaly, Congenital diaphragmatic hernia, Death in childhood, ... OMIM:618651
Abnormal Hair, Joint Laxity, And Developmental Delay
Tricuspid regurgitation, Mitral regurgitation, Sinus bradycardia OMIM:261990
Steinert Myotonic Dystrophy
Abnormality of the tongue muscle, Distal amyotrophy, Skeletal muscle atrophy, Shoulder girdle mus... ORPHA:273
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Cardiomyopathy, Cardiomegaly, Camptodactyly of toe, Impaired myocardial contra... ORPHA:158687
Huntington Disease
Weight loss, Decreased body mass index ORPHA:399
Spinocerebellar Ataxia, Autosomal Recessive 33
Arrhythmia OMIM:620208
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Respiratory failure, Hydrocephalus ORPHA:244
Myasthenic Syndrome, Congenital, 21, Presynaptic
Respiratory insufficiency, Cyanosis, Knee flexion contracture, Weakness of facial musculature OMIM:617239
Mucopolysaccharidosis Type 3
Optic atrophy, Atrioventricular block, Reduced left ventricular ejection fraction, Splenomegaly, ... ORPHA:581
Cockayne Syndrome Type 3
Subdural hemorrhage, Cardiomyopathy, Abnormality of peripheral nerve conduction, Demyelinating pe... ORPHA:90324
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Neonatal death, Respiratory arrest, Tremor, Jaundice, Dystonia, Respiratory fai... OMIM:617248
Megalocornea-Intellectual Disability Syndrome
Hypoplasia of the iris, Megalocornea, Astigmatism, Iridodonesis, Abnormal anterior chamber morpho... ORPHA:2479
Diffuse Alveolar Hemorrhage
Weight loss, Pulmonary venous hypertension ORPHA:90060
Autosomal Recessive Spastic Paraplegia Type 55
Optic atrophy, Decreased sensory nerve conduction velocity, Optic neuropathy, Onion bulb formation ORPHA:320375
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomyopathy, Cardiomegaly, Arrhythmia, Abnormal myocardium morphology, Hydrocephalus, Hepatome... ORPHA:228308
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Persistent pupillary membrane, Peters anomaly, Buphthalmos OMIM:613150
Laubry-Pezzi Syndrome
Aortic regurgitation, Congestive heart failure, Palpitations, Patent foramen ovale, Mildly reduce... ORPHA:99094
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Chromosome 2Q37 Deletion Syndrome
Arrhythmia, Subvalvular aortic stenosis OMIM:600430
1Q41Q42 Microdeletion Syndrome
Abnormality iris morphology ORPHA:250999
Beck-Fahrner Syndrome
Cardiomegaly, Facial hypotonia, Ventricular septal defect OMIM:618798
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Microcornea, Persistent pupillary membrane OMIM:257850
Eosinophilic Gastroenteritis
Hematochezia, Weight loss ORPHA:2070
Heart-Hand Syndrome Type 2
Arrhythmia ORPHA:1350
Multiple Mitochondrial Dysfunctions Syndrome 7
Dystonia, Cyanosis, Exaggerated startle response, Respiratory failure requiring assisted ventilation OMIM:620423
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Cardiac arrest, Weight loss ORPHA:139402
Christianson Syndrome
Cachexia ORPHA:85278
D-Bifunctional Protein Deficiency
Decreased nerve conduction velocity, Failure to thrive, Cerebral dysmyelination OMIM:261515
Traboulsi Syndrome
Cataract, Ectopia lentis, Phakodonesis, Iris atrophy, Spherophakia, Anterior synechiae of the ant... OMIM:601552
Surfactant Metabolism Dysfunction, Pulmonary, 2
Cyanosis, Hypoxemia, Respiratory failure, Respiratory insufficiency OMIM:610913
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Atrioventricular canal defect, Bundle branch block, Abnormal pulmona... ORPHA:500
Monosomy 18Q
Aortic valve stenosis, Secundum atrial septal defect, Failure to thrive, Absence of the pulmonary... ORPHA:1600
Sandifer Syndrome
Abnormal posturing, Torticollis ORPHA:71272
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Dilated cardiomyopathy, Weight loss, Hypsarrhythmia, EEG abnormality, Cardiac arrest ORPHA:20
Ménétrier Disease
Gastrointestinal hemorrhage, Weight loss ORPHA:2494
Friedreich Ataxia
Optic atrophy, Decreased motor nerve conduction velocity, Cardiomyopathy ORPHA:95
Neuhauser Syndrome
Hypoplasia of the iris, Megalocornea, Iridodonesis, Iris transillumination defect, Corneal arcus OMIM:249310
Carney Triad
Gastrointestinal hemorrhage, Pheochromocytoma, Arrhythmia, Leiomyosarcoma, Tachycardia, Hypertens... ORPHA:139411
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia OMIM:616801
Familial Glucocorticoid Deficiency
Hypertrophic cardiomyopathy, Hypotension, Weight loss, Failure to thrive ORPHA:361
Pierson Syndrome
Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body... OMIM:609049
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Failure to thrive, EEG abnormality, Decreased sensory ... ORPHA:456312
Primary Hepatic Neuroendocrine Carcinoma
Right ventricular failure, Palpitations, Facial telangiectasia, Weight loss, Heart murmur ORPHA:100085
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Optic atrophy, Cachexia, Abnormality of visual evoked potentials ORPHA:702
Restrictive Dermopathy 2
Cyanosis OMIM:619793
Waardenburg Syndrome Type 3
Acrocyanosis, Camptodactyly of finger ORPHA:896
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased number of large peripheral myelinated nerve fibers, Acrocyanosis, Orthostatic hypotension OMIM:223900
Fatal Familial Insomnia
Weight loss, Abnormal autonomic nervous system physiology OMIM:600072
Immunodeficiency 27A
Weight loss OMIM:209950
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Aicardi-Goutieres Syndrome 1
Erythema, Petechiae, Purpura, Prolonged neonatal jaundice, Dystonia, Acrocyanosis OMIM:225750
Hennekam-Beemer Syndrome
Optic atrophy, Hypotension, Camptodactyly of finger, Arrhythmia, Telangiectasia of the skin ORPHA:2135
Meckel Syndrome 14
Cardiorespiratory arrest, Holoprosencephaly, Occipital encephalocele, Cyanosis OMIM:619879
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly of finger, Elbow flexion contracture, Hepatosplenomegaly, Facial telangiectasia, Sp... OMIM:602782
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials OMIM:256840
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Weight loss ORPHA:97286
Tarp Syndrome
Optic atrophy, Cyanosis ORPHA:2886
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Vasculitis, Weight loss ORPHA:324964
Mucolipidosis Type Ii
Abnormal atrioventricular valve physiology, Aortic regurgitation, Cardiomyopathy, Mitral regurgit... ORPHA:576
Mucopolysaccharidosis Type 2, Severe Form
Optic atrophy, Macroglossia, Cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morpho... ORPHA:217085
Adrenocortical Carcinoma
Increased body weight, Palpitations, Hypertension, Weight loss ORPHA:1501
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Congestive heart failure, Myopathy, Arrhythmia, Flexion contracture, Ske... ORPHA:682
Familial Isolated Hypoparathyroidism
Arrhythmia, Myopathy ORPHA:2238
Brain-Lung-Thyroid Syndrome
Neonatal respiratory distress, Intention tremor, Dystonia, Respiratory failure, Choreoathetosis ORPHA:209905
Liposarcoma
Weight loss ORPHA:69078
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Cachexia ORPHA:1438
Hypokalemic Periodic Paralysis
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology ORPHA:681
Charcot-Marie-Tooth Disease Type 4C
Optic atrophy, Facial paralysis, Failure to thrive, Decreased motor nerve conduction velocity, De... ORPHA:99949
Autosomal Dominant Hypocalcemia
Hypotension, Optic atrophy, Arrhythmia, Congestive heart failure ORPHA:428
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Weight loss, Portal hypertension ORPHA:131
Whipple Disease
Hypotension, Gastrointestinal hemorrhage, Cachexia, Myocarditis, Myocardial infarction, Pericarditis ORPHA:3452
Friedreich Ataxia 2
Muscular subvalvular aortic stenosis, Congestive heart failure, Abnormal EKG, Concentric hypertro... OMIM:601992
Cockayne Syndrome
Optic atrophy, Decreased nerve conduction velocity, Cachexia, Demyelinating peripheral neuropathy... ORPHA:191
Idiopathic Pulmonary Fibrosis
Orthodeoxia, Acrocyanosis ORPHA:2032
Classic Hodgkin Lymphoma
Weight loss ORPHA:391
Osteosarcoma
Weight loss ORPHA:668
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Scedosporiosis
Respiratory failure ORPHA:449280
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Mitral regurgitation, Ventricular septal defect, Arrhythmia, Atrial septal ... ORPHA:254346
Mucopolysaccharidosis Type 2, Attenuated Form
Optic atrophy, Macroglossia, Cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morpho... ORPHA:217093
Chediak-Higashi Syndrome
Decreased nerve conduction velocity, Spontaneous, recurrent epistaxis OMIM:214500
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:585
Fucosidosis
Vascular skin abnormality, Acrocyanosis, Decreased muscle mass ORPHA:349
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Chronic Beryllium Disease
Weight loss ORPHA:133
Kearns-Sayre Syndrome
Arrhythmia, Third degree atrioventricular block, Cardiomyopathy, Ragged-red muscle fibers OMIM:530000
Mitochondrial Complex I Deficiency, Nuclear Type 32
Skeletal muscle atrophy, Respiratory failure, Death in childhood OMIM:618252
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity OMIM:616192
Q Fever
Vasculitis, Abnormal heart valve morphology, Weight loss, Myocarditis, Abnormal left ventricular ... ORPHA:781
Lymphoid Interstitial Pneumonia
Raynaud phenomenon, Weight loss, Pulmonary venous hypertension, Failure to thrive ORPHA:79128
Achalasia-Addisonianism-Alacrima Syndrome
Anisocoria OMIM:231550
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy OMIM:614862
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia, EEG abnormality ORPHA:371364
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Decreased compound muscle action potential amplitude OMIM:620080
Hereditary Sensory And Autonomic Neuropathy Type 1
Abnormality of the autonomic nervous system, Decreased amplitude of sensory action potentials ORPHA:36386
Listeriosis
Tremor, Rhabdomyolysis, Jaundice, Respiratory failure, Miscarriage ORPHA:533
Singleton-Merten Syndrome 2
Aortic valve stenosis, Arrhythmia, Aortic valve calcification OMIM:616298
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Felty Syndrome
Weight loss, Pericarditis ORPHA:47612
Renpenning Syndrome
Cachexia ORPHA:3242
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Chronic Pneumonitis Of Infancy
Hypoxemia, Cyanosis ORPHA:91359
Ogden Syndrome
Arrhythmia, Cardiogenic shock, Torticollis, Ventricular septal defect ORPHA:276432
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Elbow flexion contracture, Knee flexion contracture, Hip contracture, Death in infancy, Gliosis, ... OMIM:300868
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria ORPHA:2714
Hyperoxaluria, Primary, Type I
Acrocyanosis, Optic atrophy, Cutis marmorata, Optic neuropathy OMIM:259900
Imerslund-Gräsbeck Syndrome
Tachycardia, Weight loss, Failure to thrive ORPHA:35858
Pericardial And Diaphragmatic Defect
Neonatal respiratory distress, Hypoxemia, Congenital diaphragmatic hernia, Aplasia of the left he... ORPHA:2847
Costello Syndrome
Respiratory insufficiency, Vestibular schwannoma, Hydrocephalus, Achilles tendon contracture, Mac... OMIM:218040
Cantú Syndrome
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Cardiomegaly, Abnormal heart valve morphology ORPHA:1517
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Knobloch Syndrome 1
Band keratopathy, Chorioretinal atrophy, Iris transillumination defect, Cortical cataract, Develo... OMIM:267750
Collagenoma, Familial Cutaneous
Iris atrophy OMIM:115250
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Corneal opacity, Ectopia pupillae ORPHA:85167
Alg9-Cdg
Hypoplasia of the musculature, Abnormal heart morphology, Tricuspid regurgitation, Ventricular se... ORPHA:79328
X-Linked Agammaglobulinemia
Weight loss, Failure to thrive ORPHA:47
Leptospirosis
Hypotension, Pulmonary hemorrhage, Rhabdomyolysis, Hepatomegaly, Arrhythmia, Papilledema, First d... ORPHA:509
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Ischemic stroke, Cardiomegaly, Subarachnoid hemo... ORPHA:91387
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Prematurely aged appearance, Cardiorespiratory arrest, Respiratory fa... ORPHA:3342
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Bradycardia ORPHA:79404
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Ventricular septal defect, Cardiomegaly, Overridi... OMIM:617022
Leishmaniasis
Weight loss ORPHA:507
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Arrhythmia, Camptodactyly of finger ORPHA:3201
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Secondary Short Bowel Syndrome
Aganglionic megacolon, Weight loss, Failure to thrive ORPHA:95427
Hypothyroidism, Congenital, Nongoitrous, 2
Macroglossia, Umbilical hernia, Bradycardia OMIM:218700
Kaposi Sarcoma
Weight loss ORPHA:33276
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Yellow Fever
Shock, Reduced left ventricular ejection fraction, Bradycardia, Hematemesis, Internal hemorrhage,... ORPHA:99829
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Decreased motor nerve conduction velocity OMIM:613640
Oculogastrointestinal Muscular Dystrophy
Cachexia, Abnormal mitral valve morphology ORPHA:1876
Beta-Ketothiolase Deficiency
Hypotension, Weight loss, Hypertension ORPHA:134
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Splenomegaly, Neonatal death, Cardiomegaly, Hepatomegaly, Arthrogryposis mult... OMIM:608013
Legionnaires Disease
Hypotension, Splenomegaly, Arrhythmia, Myocarditis, Endocarditis, Pericarditis ORPHA:549
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Weight loss, Hypertension, Congestive heart failure ORPHA:85450
Wilson Disease
Increased body weight, Weight loss, Failure to thrive ORPHA:905
Niemann-Pick Disease Type C
Respiratory insufficiency, Limb dystonia, Axial dystonia, Tremor, Intention tremor, Aplasia/Hypop... ORPHA:646
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Elbow flexion contracture, Congenital diaphragmatic hernia, Mitral valve prolapse, Patent foramen... OMIM:245600
Truncus Arteriosus
Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morpho... ORPHA:3384
Acute Promyelocytic Leukemia
Epistaxis, Diffuse alveolar hemorrhage, Weight loss ORPHA:520
Majeed Syndrome
Cachexia, Weight loss, Failure to thrive ORPHA:77297
Late-Onset Isolated Acth Deficiency
Hypotension, Weight loss, Orthostatic hypotension, Failure to thrive ORPHA:199299
Trichinellosis
Conjunctival hyperemia, Conjunctivitis, Abnormal uvea morphology, Anisocoria ORPHA:863
Genetic Recurrent Myoglobinuria
Proximal muscle weakness in upper limbs, Lower limb muscle weakness, Myositis, Arrhythmia, Type 2... ORPHA:99845
Warburg Micro Syndrome 4
Optic atrophy, Decreased motor nerve conduction velocity OMIM:615663
Hermansky-Pudlak Syndrome
Epistaxis, Gastrointestinal hemorrhage, Cardiomyopathy, Weight loss, Abnormality of visual evoked... ORPHA:79430
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Macroglossia, Congestive heart failure, Hypertrophic cardiomyopathy, Diasta... OMIM:252500
Bullous Pemphigoid
Weight loss ORPHA:703
Congenital Tufting Enteropathy
Weight loss, Failure to thrive, Optic disc coloboma ORPHA:92050
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Tricuspid regurgitation, Patent foramen ovale, Cardiomegaly, Vitreous hemorrhage... OMIM:620371
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly, Tricuspid regurgitation, Limb hypertonia OMIM:620306
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Weight loss, Abnormal myocardium morphology, Sudden cardiac death, M... ORPHA:36426
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cardiorespiratory arrest, Ganglioneuroma, Cyanosis, Abnormal autonomic nervous system physiology ORPHA:293987
Heart Block, Congenital
Myocardial calcification, Absent atrioventricular node, Cardiomyopathy, Myocardial fibrosis OMIM:234700
Neuroblastoma
Weight loss, Hypertension, Horner syndrome ORPHA:635
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Lens subluxation, Corneal opacity, Ectopia pupillae OMIM:608940
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Acute Adrenal Insufficiency
Hypotension, Failure to thrive, Weight loss, Orthostatic hypotension, Myocardial infarction, Hypo... ORPHA:95409
Pyomyositis
Weight loss, Sudden cardiac death ORPHA:764
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Abnormal myelination OMIM:617333
Lyme Disease
Arrhythmia, Atrioventricular block ORPHA:91546
Aicardi-Goutieres Syndrome 7
Vasculitis, Hematochezia, Hypertrophic cardiomyopathy, Weight loss, Hematemesis, Pericardial effu... OMIM:615846
Adult-Onset Still Disease
Myocarditis, Weight loss, Pericarditis ORPHA:829
Nijmegen Breakage Syndrome
Cutaneous photosensitivity, Rhabdomyosarcoma, Skeletal muscle atrophy, Respiratory failure ORPHA:647
Chédiak-Higashi Syndrome
Pericardial effusion, Epistaxis, Decreased nerve conduction velocity ORPHA:167
Sickle Cell Disease
Cardiomegaly, Hepatomegaly, Hypertension, Splenomegaly OMIM:603903
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Hypoplasia of the musculature, Small hypothenar eminence, Cardiomegaly, Thenar muscle atrophy, Mu... ORPHA:2463
Xfe Progeroid Syndrome
Optic atrophy, Cachexia, Hypertension, Failure to thrive OMIM:610965
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Acrocyanosis, Purpura, Urticaria ORPHA:343
X-Linked Charcot-Marie-Tooth Disease Type 2
Optic disc pallor, Decreased motor nerve conduction velocity, Optic neuropathy ORPHA:101076
Anaplastic Thyroid Carcinoma
Weight loss ORPHA:142
Primary Hyperoxaluria
Acrocyanosis, Optic disc pallor, Cutis marmorata, Optic atrophy ORPHA:416
Primary Myelofibrosis
Cachexia, Portal hypertension ORPHA:824
Microscopic Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Arrhythmia, Pericar... ORPHA:727
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Weight loss, Cardiac diverticulum ORPHA:440437
Thyrotoxic Periodic Paralysis
Second degree atrioventricular block, Obesity, Palpitations, Shortened PR interval, Weight loss, ... ORPHA:79102
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis OMIM:610910
Erdheim-Chester Disease
Abnormal pericardium morphology, Weight loss, Abnormal aortic valve morphology, Congestive heart ... ORPHA:35687
Holt-Oram Syndrome
Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Ventricular septal de... OMIM:142900
Isolated Permanent Neonatal Diabetes Mellitus
Abnormal heart morphology, Weight loss, Failure to thrive, Hypovolemia ORPHA:99885
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Splenomegaly, Aganglionic megacolon, Arrhythmia, Hepatomegaly, Arthrogryposis multiplex congenita ORPHA:163746
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Pulmonary Alveolar Microlithiasis
Respiratory insufficiency, Oxygen desaturation on exertion, Cyanosis, Respiratory failure, Hypoxemia ORPHA:60025
Tetrasomy 12P
Cachexia ORPHA:884
Holocarboxylase Synthetase Deficiency
Weight loss ORPHA:79242
Riddle Syndrome
Neonatal asphyxia, Erythema, Conjunctival telangiectasia, Telangiectasia, Respiratory failure ORPHA:420741
Double Outlet Right Ventricle
Cyanosis ORPHA:3426
Abetalipoproteinemia
Distal lower limb muscle weakness, Respiratory failure, Myopathy ORPHA:14
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Hypotension, Syncope, Weight loss ORPHA:98849
Peroxisome Biogenesis Disorder 4B
Decreased nerve conduction velocity, Optic atrophy OMIM:614863
Revesz Syndrome
Leukocoria, Megalocornea OMIM:268130
Oculodentodigital Dysplasia
Optic atrophy, Arrhythmia, Camptodactyly of finger, Ventricular septal defect ORPHA:2710
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Arrhythmia OMIM:273400
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis ORPHA:1867
Myhre Syndrome
Generalized muscle hypertrophy, Respiratory insufficiency, Camptodactyly, Respiratory failure, Sk... OMIM:139210
Microphthalmia With Linear Skin Defects Syndrome
Hydrocephalus, Respiratory failure, Congenital diaphragmatic hernia, Erythema ORPHA:2556
Ogden Syndrome
Secundum atrial septal defect, Torsade de pointes, Premature atrial contractions, Supraventricula... OMIM:300855
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Anisocoria OMIM:615510
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cyanosis, Neonatal respiratory distress, Death in childhood, Death in infancy OMIM:618426
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Developmental And Epileptic Encephalopathy 95
Multiple joint contractures, Cardiomegaly, Hepatomegaly, Macroglossia, Arthrogryposis multiplex c... OMIM:618143
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
19Q13.11 Microdeletion Syndrome
Cachexia, Failure to thrive, Ventricular septal defect ORPHA:217346
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Glucose-Galactose Malabsorption
Weight loss, Failure to thrive ORPHA:35710
Behçet Disease
Aortic regurgitation, Vasculitis, Gastrointestinal hemorrhage, Pulmonary embolism, Cerebral ische... ORPHA:117
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Dystonia, Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:618278
Vici Syndrome
Left ventricular hypertrophy, Abnormal posturing, Myopathy OMIM:242840
Thymoma
Weight loss, Demyelinating peripheral neuropathy ORPHA:99867
Ataxia-Telangiectasia-Like Disorder 2
Progeroid facial appearance, Cutaneous telangiectasia, Congenital diaphragmatic hernia, Conjuncti... OMIM:615919
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Cachexia OMIM:175500
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Granulomatosis With Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Cerebral ischemia, Hypertension, Angina pecto... ORPHA:900
Postinfectious Vasculitis
Bacterial endocarditis, Cardiomyopathy, Cerebral vasculitis, Ischemic stroke, Weight loss, Raynau... ORPHA:48435
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis ORPHA:747
Colchicine Poisoning
Hypotension, Cardiogenic shock, Congestive heart failure, Arrhythmia, Myocarditis, Hypovolemia ORPHA:31824
Alveolar Echinococcosis
Budd-Chiari syndrome, Abnormal pericardium morphology, Weight loss, Portal hypertension ORPHA:284
Perry Syndrome
Weight loss OMIM:168605
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Spinal dysraphism, Interphalangeal joint contracture of finger, Diastasis recti, Camptodactyly, M... ORPHA:96334
Dermatomyositis
Erythema, Abnormal eosinophil morphology, Shawl sign, V-sign, Respiratory insufficiency, Inflamma... ORPHA:221
Carnitine Palmitoyltransferase Ii Deficiency
Cardiomyopathy, Rhabdomyolysis, Myopathy, Arrhythmia, Hydrocephalus, Hepatomegaly ORPHA:157
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Pulmonar... ORPHA:95430
Bloom Syndrome
Telangiectasia, Cutaneous photosensitivity, Respiratory failure ORPHA:125
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Weight loss, Sudden cardiac death, Abnormal myocardium morphology ORPHA:537
Holoprosencephaly
Optic atrophy, Spinal dysraphism, Tetralogy of Fallot, Abnormal pulmonary valve morphology, Encep... ORPHA:2162
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hypertrophic cardiomyopathy, Arrhythmia, Type 2 muscle fiber predominance, Skeletal muscle atrophy OMIM:615471
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Cachexia ORPHA:52503
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Cervical spina bifida, Congenital diaphragmatic hernia, Anen... ORPHA:63260
Oromandibular Dystonia
Weight loss ORPHA:93958
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Arrhythmia, Hypertension, Neonatal death OMIM:614052
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, Tetralogy of Fallo... OMIM:618280
Norrie Disease
Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Aplasia/Hypoplasia o... ORPHA:649
Castleman Disease
Restrictive cardiomyopathy, Weight loss ORPHA:160
Ataxia, Sensory, 1, Autosomal Dominant
Decreased amplitude of sensory action potentials OMIM:608984
Myasthenia Gravis
Myositis, Acrocyanosis ORPHA:589
Hereditary Late-Onset Parkinson Disease
Orthostatic hypotension due to autonomic dysfunction, Weight loss ORPHA:411602
Igg4-Related Aortitis
Weight loss ORPHA:449400
Oligomeganephronia
Congenital diaphragmatic hernia, Optic disc coloboma ORPHA:2260
Choanal Atresia
Cyanosis ORPHA:137914
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Weight loss OMIM:613673
Medullary Thyroid Carcinoma
Weight loss ORPHA:1332
Phakomatosis Pigmentokeratotica
Pheochromocytoma, Rhabdomyosarcoma, Raynaud phenomenon, Arrhythmia ORPHA:2874
Retinoblastoma
Heterochromia iridis, Leukocoria, Hypopyon, Uveitis ORPHA:790
Pulmonary Arteriovenous Malformation
Telangiectasia, Cyanosis, Hypoxemia ORPHA:2038
Retinoblastoma
Leukocoria OMIM:180200
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Abnormal myelination ORPHA:67045
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Aortic regurgitation, Ventricular hypertrophy, Aortic valve calcification,... ORPHA:740
Wolman Disease
Cachexia ORPHA:75233
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microcornea, Hypoplasia of the iris, Ectopia pupillae, Astigmatism, Corneal neovascularization, P... OMIM:175780
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Hypoperistalsis, Weight loss, Achalasia, Failure to thrive ORPHA:1018
Granulomatosis With Polyangiitis
Retinal hemorrhage, Localized pulmonary hemorrhage, Diffuse alveolar hemorrhage, Weight loss OMIM:608710
Igg4-Related Retroperitoneal Fibrosis
Budd-Chiari syndrome, Large vessel vasculitis, Weight loss, Renovascular hypertension, Hypertension ORPHA:49041
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Arrhythmia, Atrial septal defect, Patent foramen ovale OMIM:619184
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Cataract, Abnormal pupil morphology, Corneal opacity, Chorioretinal dysplasia, Bupht... ORPHA:534
Fucosidosis
Splenomegaly, Cardiomegaly, Hepatomegaly, Macroglossia, Flexion contracture, Generalized amyotrophy OMIM:230000
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Tuberous Sclerosis Complex
Generalized abnormality of skin, Pheochromocytoma, Carcinoid tumor, Pancreatic endocrine tumor, R... ORPHA:805
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Optic atrophy, Cachexia, Demyelinating peripheral neuropathy ORPHA:220295
Primary Intestinal Lymphangiectasia
Pericardial effusion, Weight loss ORPHA:90362
Lysosomal Acid Lipase Deficiency
Hypotension, Failure to thrive, Cachexia, Pulmonary arterial hypertension, Weight loss, Hypovolemia ORPHA:275761
Congenital Disorder Of Deglycosylation 1
Decreased sensory nerve conduction velocity, Delayed CNS myelination, Delayed myelination, Decrea... OMIM:615273
Rat-Bite Fever
Myocarditis, Weight loss, Endocarditis, Pericarditis ORPHA:31205
Aredyld Syndrome
Cachexia ORPHA:1133
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Interictal EEG abnormality, Weight loss OMIM:301310
Acute Monoblastic/Monocytic Leukemia
Weight loss ORPHA:514
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Abnormality of visual evoked potentials ORPHA:512
Dominant Beta-Thalassemia
Hypoplasia of the musculature, Dilated cardiomyopathy, Hepatosplenomegaly, High-output congestive... ORPHA:231226
Pitt-Hopkins Syndrome
Aganglionic megacolon, Acrocyanosis ORPHA:2896
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Cyanosis ORPHA:199241
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... OMIM:300967
Scalp-Ear-Nipple Syndrome
Cataract, Anisocoria, Iris coloboma, Developmental cataract OMIM:181270
X-Linked Intellectual Disability, Cabezas Type
Cachexia, Obesity, EEG abnormality ORPHA:85293
Kleefstra Syndrome
Tetralogy of Fallot, Ventricular septal defect, Bicuspid aortic valve, Arrhythmia, Macroglossia ORPHA:261494
Cystic Echinococcosis
Abnormal heart morphology, Weight loss ORPHA:400
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Arrhythmia, Facial palsy ORPHA:68
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Death in infancy OMIM:617478
Juvenile Polyposis Of Infancy
Hematochezia, Gastrointestinal hemorrhage, Intestinal bleeding, Abnormal heart morphology, Cachex... ORPHA:79076
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia ORPHA:79280
Mgat2-Cdg
Abnormal heart morphology, Ventricular septal defect, Arrhythmia, Patent ductus arteriosus, Refle... ORPHA:79329
Thymic Neuroendocrine Tumor
Weight loss ORPHA:97289
Localized Scleroderma
Vasculitis, Skeletal muscle atrophy, Myopathy, Arrhythmia, Raynaud phenomenon, Flexion contracture ORPHA:90289
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Ectopia pupillae OMIM:618223
Reactive Arthritis
Aortic regurgitation, Weight loss, Pericarditis ORPHA:29207
Weill-Marchesani Syndrome 2
Cataract, Microspherophakia, Ectopia lentis, Astigmatism, Iridodonesis, Shallow anterior chamber,... OMIM:608328
Tsh-Secreting Pituitary Adenoma
Hypotension, Congestive heart failure, Pericardial effusion, Palpitations, Weight loss, Supravent... ORPHA:91347
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Ven... OMIM:309801
Geleophysic Dysplasia 3
Respiratory failure OMIM:617809
Brucellosis
Arteritis, Small for gestational age, Failure to thrive, Transient ischemic attack, Abnormal aort... ORPHA:1304
Wilson Disease
Decreased nerve conduction velocity, Mixed demyelinating and axonal polyneuropathy OMIM:277900
Refractory Celiac Disease
Weight loss ORPHA:398063
Iniencephaly
Spinal dysraphism, Myelomeningocele, Encephalocele, Congenital diaphragmatic hernia, Anencephaly,... ORPHA:63259
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Ineffective esophageal peristalsis, Achalasia, Sinus bradycardia OMIM:619482
16P11.2P12.2 Microdeletion Syndrome
Tricuspid regurgitation, Arrhythmia, Camptodactyly of finger ORPHA:261211
Beta-Thalassemia Major
Hypoplasia of the musculature, Dilated cardiomyopathy, Hepatosplenomegaly, High-output congestive... ORPHA:231214
Pemphigus Vulgaris
Weight loss ORPHA:704
Radio-Renal Syndrome
Respiratory failure ORPHA:3015
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic atrophy, Failure to thrive, Corneal neovascularization, EEG abnormality, Optic disc pallor,... ORPHA:404454
Otopalatodigital Syndrome, Type Ii
Respiratory insufficiency, Elbow contracture, Hydrocephalus, Spina bifida, Stillbirth, Respirator... OMIM:304120
Celiac Disease, Susceptibility To, 1
Weight loss, Failure to thrive OMIM:212750
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss ORPHA:54251
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Obesity ORPHA:813
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Weight loss, Small for gestational age ORPHA:424
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Decreased distal sensory nerve action potential, Abnormal autonomic nervous system physiology OMIM:614575
Denys-Drash Syndrome
Neonatal respiratory distress, Posterolateral diaphragmatic hernia, Congenital diaphragmatic hern... OMIM:194080
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic atrophy, Respiratory failure, Optic nerve hypoplasia ORPHA:500150
Hemorrhagic Fever-Renal Syndrome
Petechiae, Respiratory failure, Ecchymosis ORPHA:340
Bannayan-Riley-Ruvalcaba Syndrome
Telangiectasia, Angina pectoris, Intracranial hemorrhage, Cachexia ORPHA:109
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Anisocoria OMIM:618653
Superficial Siderosis
Anisocoria ORPHA:247245
Ear-Patella-Short Stature Syndrome
Respiratory failure, Camptodactyly of finger ORPHA:2554
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Conjunctival telangiectasia, Decreased motor nerve conduction velocity OMIM:606002
Charcot-Marie-Tooth Disease Type 4B2
Optic atrophy, Decreased distal sensory nerve action potential, Myelin outfoldings ORPHA:99956
Aicardi-Goutières Syndrome
Cutis marmorata, Multiple joint contractures, Tremor, Myositis, Prolonged neonatal jaundice, Dyst... ORPHA:51
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Nail bed telangiectasia, Spinal arteriovenous malformation, Nasal mucosa t... OMIM:187300
Osteootohepatoenteric Syndrome
Weight loss, Failure to thrive OMIM:619377
Solitary Fibrous Tumor
Weight loss ORPHA:2126
Cutis Marmorata Telangiectatica Congenita
Leukocoria ORPHA:1556
Acrodermatitis Enteropathica
Weight loss, Failure to thrive ORPHA:37
Klatskin Tumor
Weight loss ORPHA:99978
Hypermobile Ehlers-Danlos Syndrome
Epistaxis, Decreased nerve conduction velocity, Mitral valve prolapse, Arrhythmia, Raynaud phenom... ORPHA:285
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:603041
Caroli Disease
Weight loss, Portal hypertension ORPHA:53035
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Congestive heart failure, Camptodactyly of finger, Elbow flexion contrac... OMIM:256040
Lymphedema-Distichiasis Syndrome
Tetralogy of Fallot, Arrhythmia, Patent ductus arteriosus, Ventricular septal defect OMIM:153400
Telangiectasia, Hereditary Hemorrhagic, Type 2
Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed telangiectasia... OMIM:600376
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Diastasis recti, Cardiomegaly, Hepatomegaly, Macroglossia... OMIM:130650
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Arrhythmia ORPHA:2878
Addison Disease
Hypotension, Weight loss, Orthostatic hypotension, Failure to thrive ORPHA:85138
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Arrhythmia, Camptodactyly of finger ORPHA:3220
Ulnar-Mammary Syndrome
Arrhythmia, Aplasia of the pectoralis major muscle, Camptodactyly of finger, Ventricular septal d... ORPHA:3138
Rajab Interstitial Lung Disease With Brain Calcifications 1
Respiratory failure, Respiratory insufficiency OMIM:613658
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Fanconi Anemia
Hypertrophic cardiomyopathy, Tetralogy of Fallot, Abnormal aortic valve morphology, Aganglionic m... ORPHA:84
African Trypanosomiasis
Second degree atrioventricular block, Third degree atrioventricular block, Congestive heart failu... ORPHA:3385
Paternal Uniparental Disomy Of Chromosome 6
Ventricular septal defect, Cardiomegaly, Hepatomegaly, Macroglossia, Patent ductus arteriosus ORPHA:96191
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Spinal arteriovenous malformation, Nasal mucosa telangiectasia, Cyanosis, ... OMIM:610655
Esophageal Atresia
Cyanosis ORPHA:1199
Primary Sclerosing Cholangitis
Spider hemangioma, Palmar telangiectasia, Congestive heart failure, Portal hypertension, Weight loss ORPHA:171
Multiple System Atrophy 1, Susceptibility To
Iris atrophy OMIM:146500
Tubulointerstitial Nephritis And Uveitis Syndrome
Posterior uveitis, Cataract, Choroidal neovascularization, Chorioretinal scar, Posterior synechia... ORPHA:91500
Microsporidiosis
Myocarditis, Cachexia, Weight loss, Endocarditis ORPHA:2552
Viss Syndrome
Coronary sinus enlargement, Umbilical hernia, Right ventricular hypertrophy, Mitral valve prolaps... OMIM:619472
Peripheral Primitive Neuroectodermal Tumor
Weight loss ORPHA:370348
Marfan Syndrome
Aortic regurgitation, Congestive heart failure, Slender build, Mitral regurgitation, Mitral valve... ORPHA:558
Classical Ehlers-Danlos Syndrome
Poor wound healing, Bruising susceptibility, Ecchymosis, Fragile skin, Orthostatic hypotension, P... ORPHA:287
Choreoacanthocytosis
Dilated cardiomyopathy, Decreased amplitude of sensory action potentials, Decreased number of per... ORPHA:2388
Fraser Syndrome 2
Respiratory failure OMIM:617666
Insulin-Resistance Syndrome Type B
Increased body weight, Abnormality of body weight, Weight loss, Decreased body weight ORPHA:2298
Lymphedema-Distichiasis Syndrome
Arrhythmia ORPHA:33001
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Arrhythmia OMIM:106300
Williams Syndrome
Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect, Myopathy, Bicuspid aortic... ORPHA:904
Noonan Syndrome
Abnormal EKG, Hypertrophic cardiomyopathy, Abnormal pulmonary valve morphology, Arrhythmia, Aplas... ORPHA:648
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypertrophic cardiomyopathy, Abnormal myelination, Portal hypertension ORPHA:309854
Hereditary Sensory And Autonomic Neuropathy Type 4
Orthostatic hypotension due to autonomic dysfunction, Abnormality of the autonomic nervous system... ORPHA:642
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrioventricular block ORPHA:93317
Camurati-Engelmann Disease
Optic atrophy, Hypertrophic cardiomyopathy, Slender build, Optic nerve compression, Cachexia, Fac... ORPHA:1328
Familial Gestational Hyperthyroidism
Weight loss ORPHA:99819
Wiskott-Aldrich Syndrome
Vasculitis, Hematochezia, Epistaxis, Recurrent intrapulmonary hemorrhage, Arrhythmia, Hematemesis... ORPHA:906
Nocardiosis
Abnormal heart valve morphology, Weight loss, Endocarditis, Pericarditis ORPHA:31204
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Pulmonary arterial hypertension, Weight loss, Optic neuropathy OMIM:181000
Autosomal Recessive Polycystic Kidney Disease
Jaundice, Respiratory failure ORPHA:731
Lynch Syndrome
Gastrointestinal hemorrhage, Weight loss, Cardiac diverticulum ORPHA:144
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Small vessel vasculitis OMIM:620376
Neonatal Marfan Syndrome
Iridodonesis, Ectopia lentis, Megalocornea ORPHA:284979
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Pulmonary arterial ... ORPHA:3472
Schwartz-Jampel Syndrome
Cachexia, Arrhythmia, Pulmonary arterial hypertension, Decreased body weight ORPHA:800
Congenital Tracheal Stenosis
Neonatal asphyxia, Cyanosis ORPHA:141127
Ppoma
Gastrointestinal hemorrhage, Weight loss ORPHA:97278
Acrofrontofacionasal Dysostosis 1
Iris atrophy OMIM:201180
Beckwith-Wiedemann Syndrome
Visceromegaly, Hypertrophic cardiomyopathy, Diastasis recti, Splenomegaly, Congenital diaphragmat... ORPHA:116
Ivic Syndrome
Arrhythmia ORPHA:2307
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Parathyroid Carcinoma
Weight loss, Shortened QT interval ORPHA:143
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia, Abnormal mitral valve morphology ORPHA:1969
Zollinger-Ellison Syndrome
Hematochezia, Gastrointestinal hemorrhage, Weight loss ORPHA:913
Pancreatoblastoma
Weight loss ORPHA:677
Trisomy 18
Cachexia, Atrial septal defect, Ventricular septal defect ORPHA:3380
Liver Disease, Severe Congenital
Dilatation of the ventricular cavity, Splenomegaly, Patent foramen ovale, Ventricular septal defe... OMIM:619991
Aortic Arch Interruption
Left ventricular hypertrophy, Cyanosis ORPHA:2299
Wolf-Hirschhorn Syndrome
Rieger anomaly, Iris coloboma, Ectopia pupillae OMIM:194190
Kawasaki Disease
Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal defect without pul... ORPHA:2331
Kikuchi-Fujimoto Disease
Myocarditis, Vasculitis, Weight loss, Vasculitis in the skin ORPHA:50918
Somatostatinoma
Gastrointestinal hemorrhage, Weight loss ORPHA:97283
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Aortic valve calcification, Bacterial endocarditis, Spontaneous, recurrent epistaxis, Cachexia, P... ORPHA:2072
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypotension, Failure to thrive, Shock, Weight loss, Hypovolemia ORPHA:90794
Oculodentodigital Dysplasia
Arrhythmia, Joint contracture of the 5th finger, Atrial septal defect OMIM:164200
Multiple Endocrine Neoplasia Type 1
Shortened QT interval, Cranial nerve compression, Weight loss, Hematemesis, Melena, Hypertension ORPHA:652
Systemic Lupus Erythematosus
Weight loss, Hypertension, Raynaud phenomenon ORPHA:536
Mowat-Wilson Syndrome
Cataract, Microcornea, Chorioretinal coloboma, Ectopia pupillae, Iris coloboma OMIM:235730
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Respiratory failure ORPHA:2636
Grfoma
Gastrointestinal hemorrhage, Weight loss ORPHA:97261
Gallbladder Neuroendocrine Tumor
Weight loss ORPHA:100086
Familial Mediterranean Fever
Vasculitis, Splenomegaly, Arrhythmia, Myocardial infarction, Pericarditis ORPHA:342
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Left ventricular systolic dysfunction, Transient ischemic attack, Retina... ORPHA:51608
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Cachexia ORPHA:37042
Degcags Syndrome
Failure to thrive, Patent foramen ovale, Ventricular septal defect, Dysplastic pulmonary valve, P... OMIM:619488
Glucagonoma
Gastrointestinal hemorrhage, Weight loss ORPHA:97280
Igg4-Related Kidney Disease
Arteritis, Weight loss, Pericarditis ORPHA:449395
Osteoporosis-Pseudoglioma Syndrome
Cataract, Absent anterior chamber of the eye, Iris atrophy OMIM:259770
Sarcoidosis
Portal hypertension, Arrhythmia, Abnormal cardiac ventricular function, Ventricular tachycardia, ... ORPHA:797
Tropical Pancreatitis
Weight loss ORPHA:103918
Shwachman-Diamond Syndrome 1
Myocardial necrosis OMIM:260400
Witteveen-Kolk Syndrome
Cataract, Anisocoria, Iris coloboma OMIM:613406
Familial Pancreatic Carcinoma
Weight loss ORPHA:1333
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Cataract, Microcornea, Ectopia pupillae, Abnormal pupil morphology, Axenfeld anomaly, Astigmatism... ORPHA:261552
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Specc1L-Related Hypertelorism Syndrome
Tetralogy of Fallot, Ventricular septal defect, Arrhythmia, Atrial septal defect, Patent ductus a... ORPHA:1519
Immunodeficiency 31C
Weight loss OMIM:614162
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss ORPHA:309031
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis ORPHA:99050
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Congestive heart failure, Muscle fiber atrophy... OMIM:182250
Seckel Syndrome
Cachexia ORPHA:808
Multiple Myeloma
Weight loss ORPHA:29073
Cystinosis, Nephropathic
Failure to thrive in infancy, Weight loss, Failure to thrive OMIM:219800
Malt Lymphoma
Weight loss ORPHA:52417
Eisenmenger Syndrome
Hypoxemia, Cyanosis ORPHA:97214
Simpson-Golabi-Behmel Syndrome, Type 1
Total anomalous pulmonary venous return, Cardiomyopathy, Diastasis recti, Splenomegaly, Congenita... OMIM:312870
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss ORPHA:85408
Cushing Syndrome Due To Ectopic Acth Secretion
Capillary fragility, Increased body weight, Weight loss, Truncal obesity, Abdominal obesity, Hype... ORPHA:99889
Stickler Syndrome
Slender build, Arrhythmia, Cachexia, Mitral valve prolapse ORPHA:828
Neurooculorenal Syndrome
Iris atrophy OMIM:620305
Sponastrime Dysplasia
Cataract, Microcoria, Congenital aphakia ORPHA:93357
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrial septal defect OMIM:250220
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss OMIM:301074
Vipoma
Weight loss ORPHA:97282
Igg4-Related Dacryoadenitis And Sialadenitis
Optic nerve compression, Weight loss ORPHA:79078
Immunodeficiency 82 With Systemic Inflammation
Weight loss, Vasculitis in the skin OMIM:619381
Hydrolethalus Syndrome 1
Agenesis of the diaphragm, Anencephaly, Stillbirth, Severe hydrocephalus OMIM:236680
Ulbright-Hodes Syndrome
Respiratory failure ORPHA:3404
Vascular Ehlers-Danlos Syndrome
Keratoconus, Abnormal pupil morphology ORPHA:286
Coffin-Lowry Syndrome
Cutis marmorata, Acrocyanosis OMIM:303600
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337
Goodpasture Syndrome
Pulmonary hemorrhage, Weight loss OMIM:233450
Ulnar-Mammary Syndrome
Elbow flexion contracture, Arrhythmia, Ventricular septal defect OMIM:181450
Homozygous Familial Hypercholesterolemia
Myocardial steatosis, Optic neuropathy, Abnormal tendon morphology, Tendon xanthomatosis ORPHA:391665
Chronic Graft Versus Host Disease
Weight loss ORPHA:99921
Proteus Syndrome
Cachexia, Sudden cardiac death, Pulmonary embolism ORPHA:744
Orofaciodigital Syndrome Type 14
Abnormal myelination, Ventricular septal defect 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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