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Gene: Syne1 MGI:1927152

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Gene Summary

Name:
spectrin repeat containing, nuclear envelope 1
Synonyms:
enaptin165,  nesprin-1,  SYNE-1,  A330049M09Rik,  C130039F11Rik

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Syne1em1(IMPC)Bay HOM   Early adult 0.00

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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 Syne1 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.

The table below shows human diseases associated to Syne1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Centrally nucleated skeletal muscle fibers, Flexion contracture, Incre... OMIM:618484
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Vocal cord paralysis, Atrioventricular block, Decreased cervical spine flexion due to ... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Muscular dystrophy, Proximal amyotrophy OMIM:612998
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Limb ataxia, Gait ataxia, Dysmetria, Abnormality of extrapyramidal motor function, Scol... OMIM:610743
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
Small for gestational age, Postnatal growth retardation, Arthrogryposis multiplex congenita, Bila... ORPHA:319332
Autosomal Recessive Ataxia, Beauce Type
Impaired vibratory sensation, Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Kyphosis, B... ORPHA:88644

The table below shows human diseases predicted to be associated to Syne1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Myofibrillar Myopathy 11
Fatigue, Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Dysphagia, Cal... OMIM:619178
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... OMIM:620286
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... OMIM:181350
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Dysphagia, EMG... OMIM:608423
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Scapular winging, Low back pain, Centrally nucleated ske... OMIM:619733
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... OMIM:615424
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... ORPHA:2593
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... OMIM:601846
Exercise Intolerance, Riboflavin-Responsive
Exercise intolerance, Ragged-red muscle fibers OMIM:616839
Rhabdomyolysis, Susceptibility To, 1
Exercise intolerance, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Type 2 muscle f... OMIM:620235
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... OMIM:271150
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,... OMIM:619566
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... OMIM:113900
Polyglucosan Body Myopathy 2
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... OMIM:616199
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... ORPHA:611
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of ske... OMIM:618129
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... OMIM:254110
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617760
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Frequent falls, Bilateral ptosis, Limb-girdle musc... ORPHA:254361
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Dysphagia, Weakness of faci... OMIM:181400
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Myopathy, Centronuclear, 4
Exercise intolerance, Myalgia, Type 1 muscle fiber predominance, Centrally nucleated skeletal mus... OMIM:614807
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... OMIM:117000
Muscular Dystrophy, Becker Type
Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia OMIM:300376
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Myopathy, Distal, Tateyama Type
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... OMIM:614321
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... ORPHA:99106
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Postural tremor, Ankle fle... OMIM:616668
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Ataxia-Oculomotor Apraxia Type 4
Somatic sensory dysfunction, Progressive distal muscular atrophy, Ataxia, Kyphoscoliosis, Obesity... ORPHA:459033
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... OMIM:618655
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hypertrophy, Shoulde... ORPHA:34515
Muscular Dystrophy, Progressive Pectorodorsal
Scapular winging, Arrhythmia, Shoulder girdle muscle weakness, Muscular dystrophy OMIM:310095
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Myasthenic Syndrome, Congenital, 14
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... OMIM:616228
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:160150
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am... OMIM:158600
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... OMIM:616852
Nonaka Myopathy
Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... OMIM:605820
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Fatigue, Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Weakness of ... OMIM:619477
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval, Hypoglycosylation of alpha-dystroglycan, Cataract, Generalized limb muscle... OMIM:615351
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Exercise intolerance, Short stature, Facial palsy, Ragged-red muscle fibers, Proximal muscle weak... OMIM:616209
Roussy-Lévy Syndrome
Impaired vibratory sensation, Skeletal muscle atrophy, Somatic sensory dysfunction, Postural trem... ORPHA:3115
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... OMIM:608358
Myopathy, Myofibrillar, 6
Scapular winging, Thoracic scoliosis, Facial palsy, Myofibrillar myopathy, Spinal rigidity, Diaph... OMIM:612954
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio... OMIM:611705
Congenital Heart Block
Cyanosis, First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atriovent... ORPHA:60041
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elbow flexion contracture, Joint contracture, Muscular dystrophy, Generalized amyotrophy, Scolios... OMIM:616516
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus, Ventricular escape rhythm, Poor fine motor coordination, Sick sinus syndrome, Bradyc... ORPHA:542306
Muscular Dystrophy, Congenital, Lmna-Related
Hip contracture, Paroxysmal atrial fibrillation, Elbow contracture, Spinal rigidity, Scapuloperon... OMIM:613205
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Death in infancy, Increased variability in muscle fiber diameter, Bradycardia, Death in childhood... OMIM:620265
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cyanosis, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Hypox... ORPHA:70587
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... OMIM:612999
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Spinal rigidity, Limb-girdle muscl... OMIM:609308
Congenital Myopathy 3 With Rigid Spine
Failure to thrive, Decreased body weight, Short stature, Facial palsy, Centrally nucleated skelet... OMIM:602771
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f... OMIM:618823
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... OMIM:617030
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Myofibrillar Myopathy 10
Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Increased QRS voltage, Knee flexi... OMIM:619040
Autosomal Recessive Spastic Paraplegia Type 43
Impaired vibratory sensation, Ankle flexion contracture, Babinski sign, Knee flexion contracture,... ORPHA:320370
Congenital Myopathy 18
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e... OMIM:620246
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Muscular Dystrophy, Limb-Girdle, Type 1H
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ... OMIM:613530
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Exercise intolerance, Proximal muscle weakness in upper limbs, Short stature, Ragged-red muscle f... ORPHA:457050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers OMIM:618992
Myopathy, Vacuolar, With Casq1 Aggregates
Myalgia, Muscle fiber calsequestrin 1-containing inclusion bodies OMIM:616231
Inclusion Body Myositis
Inflammatory myopathy, Dysphagia, Rimmed vacuoles OMIM:147421
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Abdominal pain, Limb-girdle muscle weakness, Myopathy... ORPHA:86812
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... OMIM:604286
Myopathy, Myofibrillar, 2
Cataract, Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome ... OMIM:608810
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... OMIM:607554
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block, Muscular dystrophy, Skeletal muscle hypertrophy OMIM:613158
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Muscular dystrophy, Cardiomyopathy OMIM:309930
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Failure to thrive, Elbow contracture, Centrally nuclea... OMIM:620310
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Ankle flexion contracture... ORPHA:267
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Ataxia, Sudden cardiac death, Congestive hea... OMIM:610198
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis, Distal sensory impairment, Upper limb muscle weakness, Distal amyotrophy, Scoliosis,... OMIM:302802
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Paraparesis, Skeletal muscle hypertrophy, Scol... ORPHA:99014
Bronchopulmonary Dysplasia
Small for gestational age, Right ventricular failure, Atelectasis, Abnormal lung morphology, Diap... ORPHA:70589
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... OMIM:609115
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... ORPHA:34516
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Skeletal muscle atrophy, Reduced systolic function, Dilated cardiomyopathy, Macroglossia, Calf mu... OMIM:616827
Paraparetic Variant Of Guillain-Barré Syndrome
Recurrent acute respiratory tract infection, Paraparesis, Sciatica, Impaired distal proprioception ORPHA:231445
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Ankle contracture, Kyphoscoliosis, Spinal rigidity, Limb-gird... OMIM:620386
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Exercise intolerance, Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdo... OMIM:620138
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... OMIM:616201
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Mitochondrial Myopathy With Diabetes
Exercise intolerance, Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyo... OMIM:500002
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Failure to thrive, Long eyebrows, Atrioventricular block, Joint contracture of the 5th finger, Br... OMIM:614407
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Bradycardia, Muscular dystroph... OMIM:614302
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Muscle Filaminopathy
Back pain, Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeleta... ORPHA:171445
Distal Myopathy With Anterior Tibial Onset
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... ORPHA:178400
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Centrally nucleated skeletal muscle fibers, Flexion contracture, Incre... OMIM:618484
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... ORPHA:178464
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Gastrocnemius myalgia, Ragged-red muscle fibers, Increas... ORPHA:276435
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Myopathy, Myofibrillar, 1
Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular... OMIM:601419
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Death in early adulthood, Right axis deviation, Elevated jugular venous pressure, Muscle fiber hy... OMIM:255160
Congenital Myopathy 4A, Autosomal Dominant
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Type 1 fibers r... OMIM:255310
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... OMIM:618848
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Absent P wave, Sudden cardiac death, First degree atrioventricular block... OMIM:310300
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Left ventricular diastolic dysfun... OMIM:618052
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... OMIM:616812
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Left ventricular hypertrophy, Atrial fibrillation, Pulmonary artery atresia, Prolonged PR interval OMIM:108900
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Dysphagia, Shoulder ... ORPHA:266
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Calf muscle pseudohypertrophy, Scapular winging, Thoracic scoliosis, Hyperlordosis, Achilles tend... ORPHA:62
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase... OMIM:617066
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Dpm3-Cdg
Dilated cardiomyopathy, Babinski sign, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle... ORPHA:263494
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Recurrent respiratory infections, Facial palsy, Centrally nucleated skel... OMIM:255320
Paroxysmal Extreme Pain Disorder
Impaired pain sensation, Tachycardia, Bradycardia, Flushing OMIM:167400
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Short neck, Vocal cord paralysis, Atrioventricular block, Decreased cervical spine fle... ORPHA:98863
Nemaline Myopathy 7
Lumbar hyperlordosis, Frequent falls, Kyphoscoliosis, Fatty replacement of skeletal muscle, Knee ... OMIM:610687
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Spinal rigidity, Proxi... ORPHA:598
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Cerebral hemo... OMIM:619897
Emery-Dreifuss Muscular Dystrophy
Back pain, Vocal cord paralysis, Atrioventricular block, Decreased cervical spine flexion due to ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Vocal cord paralysis, Atrioventricular block, Decreased cervical spine flexion due to ... ORPHA:98853
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy... OMIM:608807
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... OMIM:601954
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Limb muscle ... ORPHA:486815
Meconium Aspiration Syndrome
Abnormal pulmonary thoracic imaging finding, Atelectasis, Pneumothorax, Abnormal heart rate varia... ORPHA:70588
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Scoliosis, Increased ... OMIM:613204
Rett Syndrome
Skeletal muscle atrophy, Cachexia, Kyphosis, Gait apraxia, Gait ataxia, Scoliosis, Truncal ataxia... OMIM:312750
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis, Spastic paraplegia, Cervical spondylosis, Developmental cataract, Abnormal lumbar sp... ORPHA:101005
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617072
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... OMIM:615422
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Skeletal muscle atrophy, Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Babinski si... OMIM:615157
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Scapuloperoneal Myopathy, X-Linked Dominant
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,... OMIM:300695
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Lower limb spasticity, Kyphoscoliosis, Babinski sign, Up... ORPHA:496689
Andersen-Tawil Syndrome
Prolonged QT interval, Periodic hyperkalemic paralysis, Ventricular arrhythmia, Bidirectional ven... ORPHA:37553
Timothy Syndrome
Prolonged QT interval, Pneumonia, Bronchitis, Ventricular tachycardia, Atrioventricular block, Br... OMIM:601005
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis, Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles OMIM:615426
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Calf muscle pseudohypertrophy, Hyperlordosis, Congestive heart failure, Achilles te... OMIM:310200
Tularemia
Tachycardia, Abnormal pulmonary thoracic imaging finding, Skin rash, Pneumonia, Erythema nodosum,... ORPHA:3392
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Distal amyotrophy, Myalgia, Muscle fiber cytoplasmatic inclusion bod... OMIM:609200
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Centrally nucleated skeletal muscle fibe... OMIM:613327
Congenital Muscular Dystrophy Without Intellectual Disability
Reduced muscle fiber alpha dystroglycan, Kyphoscoliosis, Fatty replacement of skeletal muscle, Ac... ORPHA:370980
Asbestos Intoxication
Cyanosis, Right ventricular failure, Lung adenocarcinoma, Atelectasis, Pleural thickening, Ground... ORPHA:2302
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Fatigue, Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diame... OMIM:253601
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Ataxia, Progressive intervertebral space narrowing, Hemiplegia/hemipares... ORPHA:480
Mitochondrial Complex I Deficiency, Nuclear Type 13
Death in infancy, Cardiac arrest, Spasticity, Bradycardia, Hypertrophic cardiomyopathy, Failure t... OMIM:618235
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ... ORPHA:57777
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Short stature, Centrally nucleated skeletal muscle fibers, Failure to thrive, Skeletal muscle aut... OMIM:619518
King-Denborough Syndrome
Short stature, Centrally nucleated skeletal muscle fibers, Exercise-induced myalgia, Type 1 muscl... OMIM:619542
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster... ORPHA:98855
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Distal amyotrophy, Ataxia, Kyphoscoliosis OMIM:619099
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Hyperlordosis, Flexion contrac... OMIM:253700
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting OMIM:609524
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bradycardia, ... ORPHA:66529
Charcot-Marie-Tooth Disease Type 1A
Skeletal muscle atrophy, Kyphoscoliosis, Sensory ataxia, Distal sensory impairment, Calf muscle h... ORPHA:101081
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Exercise-induced rhabdomyolysis, Inflammatory abnormality of the skin, Tac... ORPHA:26793
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Facial erythema, Arthritis, Vasculit... OMIM:620321
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Facial palsy, Flexion contracture, Developmental cataract, Abnormal left ventricular function, Ca... OMIM:613155
Acute Interstitial Pneumonia
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-... ORPHA:79126
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Somatic sensory dysfunction, Lower limb spasticity, Abnormal pyramidal sign, Cardio... ORPHA:1177
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Hypoglycosylation of alpha-dystroglycan, Cataract, Limb-girdle muscle weakness, Cardiomyopathy, M... OMIM:615352
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Frontotemporal Dementia With Motor Neuron Disease
Weakness due to upper motor neuron dysfunction, Parkinsonism, Paraparesis, Babinski sign, Progres... ORPHA:275872
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... OMIM:617047
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Facial palsy, Hyperlordosis, Flexion contracture, Skeletal muscle hypertrophy, Macroglossia, Musc... OMIM:613156
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... ORPHA:603
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Spinal Muscular Atrophy, Ryukyuan Type
Fasciculations, Spinal muscular atrophy, Kyphoscoliosis, Proximal amyotrophy OMIM:271200
Alpers-Huttenlocher Syndrome
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... ORPHA:726
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Epicanthus, Bradycardia, Scoliosis OMIM:616276
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Skeletal muscle atrophy, Kyphoscoliosis, Arterial rupture, Microcornea, Myopathy, Bruising suscep... ORPHA:300179
Muscular Dystrophy, Congenital, 1B
Facial palsy, Spinal rigidity, Achilles tendon contracture, Generalized muscle hypertrophy, Pecto... OMIM:604801
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... ORPHA:399058
Sandhoff Disease, Adult Form
Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Dysphagia ORPHA:309169
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Distal lower limb amyotrophy, Incoordination, Hand muscle weakness, Tremor, Paraparesis, Achilles... OMIM:302800
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Parkinson-Dementia Syndrome
Parkinsonism, Kyphoscoliosis, Tremor, Rigidity, Abnormal pyramidal sign OMIM:260540
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Facial palsy, Flexion contracture, Dysphagia, Shoulder girdle muscle weakness, Myalgia, Muscular ... OMIM:603511
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Ankle flexion contracture, Limb-gi... OMIM:613818
Waardenburg Syndrome Type 3
Telecanthus, Camptodactyly of finger, Atelectasis, Spastic paraplegia, Blepharophimosis, Acrocyan... ORPHA:896
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Rigidity, Death in infancy, Hypertonia, Muscular dystrophy OMIM:613869
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Autoimmune Hypoparathyroidism
Prolonged QT interval, Cataract, Chronic mucocutaneous candidiasis, Abnormal left ventricular fun... ORPHA:36913
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Facial palsy, Quadriceps muscle atrophy, Calf muscle hypertrophy, Shoulder girdle muscle weakness... OMIM:611307
Oculopharyngodistal Myopathy 2
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... OMIM:618940
Congenital Myopathy 22A, Classic
Thoracic scoliosis, Synophrys, Ragged-red muscle fibers, Generalized amyotrophy, Neonatal death, ... OMIM:620351
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy... ORPHA:71277
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Death in ado... OMIM:612158
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Death in infancy, Corneal opacity, Dilated cardiomyopathy, Flexion contracture, Developmental cat... OMIM:618815
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Dysphagia, Weakness of facia... OMIM:617069
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic sinusitis, Bronchiectasis OMIM:253240
Myopathy, Centronuclear, 2
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, ... OMIM:255200
Spastic Paraparesis-Deafness Syndrome
Cataract, Ataxia, Impaired pain sensation, Hemiplegia/hemiparesis, Spastic paraparesis ORPHA:2815
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca... ORPHA:206559
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Low-output congestive heart failure, Myopathy, Hypertrophic cardiomyopathy, Failure to ... ORPHA:91130
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Facial hypotonia, Ataxia, Kyphoscoliosis, Short neck, Tremor, Parkinsonism, Flexi... OMIM:300055
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Recurrent respiratory infections, Epicanthus, Decreased musc... ORPHA:3041
Congenital Myopathy 23
Skeletal muscle atrophy, Scapular winging, Kyphoscoliosis, Flexion contracture, Facial diplegia, ... OMIM:609285
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy
Muscular dystrophy, Gait ataxia OMIM:253590
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of... ORPHA:596
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis, Otitis media OMIM:300455
Myopathy, Myofibrillar, 8
Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contracture, Joint ... OMIM:617258
Allan-Herndon-Dudley Syndrome
Skeletal muscle atrophy, Ataxia, Small for gestational age, Kyphoscoliosis, Failure to thrive in ... ORPHA:59
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Poor fine motor coordination, Sick sinus syndrome, Bradycardia OMIM:617182
Bronchogenic Cyst
Back pain, Abnormality of the cervical spine, Abnormal pulmonary thoracic imaging finding, Pulmon... ORPHA:2357
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... OMIM:612736
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Urinary incontinence, Centrally nucleated skeletal muscl... ORPHA:169189
Spinal Arteriovenous Metameric Syndrome
Angiokeratoma, Kyphoscoliosis, Congestive heart failure, Paraparesis, Abnormality of the vertebra... ORPHA:53721
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Desminopathy
Thoracic kyphoscoliosis, Supraventricular arrhythmia, Sudden cardiac death, Spinal rigidity, Cong... ORPHA:98909
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... OMIM:620068
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Neonatal Lupus Erythematosus
Prolonged QT interval, Skin rash, Maculopapular exanthema, Heart block, Dilated cardiomyopathy, A... ORPHA:398124
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Hypertrophic cardiomyopathy, Bradycardia, Spasticity OMIM:616277
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Short stature, Distal amyotrophy, Type 1 muscle fiber predominance, Increased va... OMIM:619042
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Short stature, Centrally nucleated skeletal muscle fibers, Flexion contr... OMIM:248800
Primary Angiitis Of The Central Nervous System
Cerebral vasculitis, Transient ischemic attack, Parkinsonism, Ataxia, Paralysis, Paraparesis, Int... ORPHA:140989
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Recurrent respiratory infections, Internally nucleated skeletal muscle f... ORPHA:98905
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Cataract, Congenital muscular dystrophy, Ptosis ORPHA:1875
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... ORPHA:536516
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers ORPHA:324581
Facioscapulohumeral Muscular Dystrophy 2, Digenic
Scapular winging, Facial palsy, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, Scapulo... OMIM:158901
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Kyphoscoliosis, Spastic paraplegia, Spastic tetraplegia, Spasticity, Joint contracture OMIM:617977
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Lumbar hyperlordosis, Hypertension, Myopathy, Abdominal obesity, Muscula... OMIM:615980
Spastic Paraplegia 20, Autosomal Recessive
Lower limb spasticity, Kyphoscoliosis, Flexion contracture, Babinski sign, Spastic paraplegia, Dy... OMIM:275900
Roussy-Levy Hereditary Areflexic Dystasia
Kyphoscoliosis, Upper limb postural tremor, Distal sensory impairment, Gait ataxia, Distal amyotr... OMIM:180800
Oculopharyngeal Muscular Dystrophy
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology ORPHA:270
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Skeletal muscle atrophy, Vertebral fusion, Facial palsy, Elbow contracture, Hyperlordosis, Kyphos... OMIM:606612
Combined Oxidative Phosphorylation Deficiency 8
Death in infancy, Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary... OMIM:614096
Intellectual Developmental Disorder, X-Linked 19
Small for gestational age, Scoliosis, Kyphoscoliosis OMIM:300844
Myopathy, Distal, 3
Clumsiness, Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contractur... OMIM:610099
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca... OMIM:608099
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Facioscapulohumeral Muscular Dystrophy 1
Skeletal muscle atrophy, Scapular winging, Facial palsy, Retinal telangiectasia, Calf muscle hype... OMIM:158900
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Skeletal muscle atrophy, Ataxia, Clonus, Bilateral ptosis, Ragged-red muscle fibers, Abnormal pyr... OMIM:616479
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Lumbar hyperlordosis, Skeletal muscle atrophy, Flexion contracture, Muscular dystrophy OMIM:613723
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Kyphoscoliosis, Distal sensory impairment, Upper limb muscle weakness, Distal amyotrophy, Foot do... OMIM:605588
Congenital Disorder Of Glycosylation, Type Ie
Ataxia, Ankle flexion contracture, Tremor, Knee flexion contracture, Telangiectasia, Muscular dys... OMIM:608799
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Spinal rigid... ORPHA:324604
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Abnormal pulmonary interstitial mo... ORPHA:330001
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cataract, Parkinsonism, Ragged-red muscle fibers, Limb muscle weakness, Sensory ataxia, EMG: myop... OMIM:609286
Miyoshi Muscular Dystrophy 3
Quadriceps muscle atrophy, Quadriceps muscle weakness, Calf muscle hypertrophy, Muscular dystroph... OMIM:613319
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media, Failure to thrive secondar... OMIM:601457
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Facial palsy, Achilles tendon contracture, Babinski sign, Elbow flexion contracture, Skeletal mus... OMIM:608840
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Perching Syndrome
Joint contracture, Cyanosis, Scoliosis, Camptodactyly OMIM:617055
Nemaline Myopathy 5C, Autosomal Dominant
Skeletal muscle atrophy, Scapular winging, Slender build, Quadriceps muscle weakness, Achilles te... OMIM:620389
X-Linked Charcot-Marie-Tooth Disease Type 3
Distal lower limb amyotrophy, Somatic sensory dysfunction, Hand muscle weakness, Tremor, Intrinsi... ORPHA:101077
Whistling Face Syndrome, Recessive Form
Telecanthus, Epicanthus, Shoulder flexion contracture, Kyphoscoliosis, Short neck, Elbow flexion ... OMIM:277720
Leukodystrophy, Hypomyelinating, 3
Appendicular spasticity, Death in infancy, Kyphoscoliosis, Abnormal pyramidal sign, Spastic parap... OMIM:260600
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Exercise intolerance, EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
Intellectual Developmental Disorder, Autosomal Dominant 56
Ptosis, Lower limb spasticity, Ataxia, Paraparesis, Oromotor apraxia, Clumsiness, Upslanted palpe... OMIM:617854
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Cerebral palsy, Skin rash, Ataxia, Hemiplegia/hemiparesis, Angioedema, Emphysema, U... ORPHA:36412
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Dilated cardiomyopathy, A... OMIM:607155
Ciliary Dyskinesia, Primary, 21
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Chronic sinusitis OMIM:615294
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Recurrent otitis media, Recur... OMIM:616726
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... OMIM:606693
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Nathalie Syndrome
Abnormal EKG, Cataract, Skeletal muscle atrophy OMIM:255990
Maternal Uniparental Disomy Of Chromosome 9
Kyphoscoliosis, Short neck, Hamstring contractures, Failure to thrive, Abnormal vertebral morphology ORPHA:96183
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Ragged-red muscle fibers... OMIM:160500
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Morning myoclonic jerks, Bradycardia ORPHA:2898
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Cln3 Disease
Cataract, Acne, Ataxia, Extrapyramidal muscular rigidity, Bradykinesia, T-wave inversion, Bradyca... ORPHA:228346
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Chronic otitis media, Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:619466
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Decreased muscle mass, Cataract, Kyphoscoliosis, Atlantoaxial abnormality, Downslanted palpebral ... ORPHA:3433
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Shoulder girdle muscle weakness... OMIM:606070
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Facial palsy, Action tremor, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sig... OMIM:607483
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Merrf
Myopathy, Ragged-red muscle fibers, Short stature ORPHA:551
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Hyperlordosis, Flexion contrac... OMIM:611588
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Death in infancy, Clonus, Rigidity, Babinski sign, Hypertonia, Bradycardia, Myoclonic spasms, Joi... OMIM:614498
Proximal Myopathy With Extrapyramidal Signs
Increased variability in muscle fiber diameter, Central core regions in muscle fibers, Centrally ... ORPHA:401768
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, Decreased muscle glycogen content, ST segment elevation, Ventricular tachy... ORPHA:263297
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... OMIM:614954
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Spasticity, Hypertrophic cardiomyopathy, Bradycardia, Pleural effusion... OMIM:614702
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios... OMIM:222600
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Left ventricular hypertrophy, Congestive heart failure, Failure to thrive, Bradycardia OMIM:619048
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Ataxia, Ground-glass opacification, Atelectasis, Pulmonary infi... OMIM:610978
Miyoshi Muscular Dystrophy 1
Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet... OMIM:254130
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Scapular winging, Myositis, Facial palsy, Flexion contracture, Proximal amyotrophy, Clumsiness, M... OMIM:253600
Lipoyltransferase 1 Deficiency
Death in infancy, Spastic tetraparesis, Abnormality of extrapyramidal motor function, Bradycardia... OMIM:616299
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Incoordination, Ataxia, Acute rhabdomyolysis, Clonus, Involu... ORPHA:480864
Myopathy, X-Linked, With Postural Muscle Atrophy
Back pain, Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring cont... OMIM:300696
Glycogen Storage Disease Xv
Scapular winging, ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachyca... OMIM:613507
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... OMIM:604169
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Spinal rigidity, Kyphosis, ... OMIM:254090
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Death in infancy, Recurrent respiratory infections, Vertebral fusion, Block vertebrae,... OMIM:277300
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy, Kypho... OMIM:607855
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo... ORPHA:98912
Juvenile Temporal Arteritis
Vasculitis, Conjunctivitis, Allergic rhinitis, Cerebral ischemia ORPHA:26137
Hyperekplexia 4
Kyphoscoliosis, Flexion contracture, Hypertonia, Distal arthrogryposis, Myoclonus, Camptodactyly OMIM:618011
Gitelman Syndrome
Prolonged QT interval, Paralysis, Raynaud phenomenon, Rhabdomyolysis, Gout, Low-to-normal blood p... ORPHA:358
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Night sweats, Intrinsic hand muscle atrophy, Dysphagi... OMIM:619574
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Absent muscle fiber merosin, Facial palsy, Hyperlordosis, Atelectasis, Flexion contract... ORPHA:258
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Hypoglycosylation of alpha-dystroglycan, Cataract, Ataxia, Muscular dystrophy OMIM:615350
Immunodeficiency 46
Recurrent sinopulmonary infections, Failure to thrive, Conjunctivitis, Chronic oral candidiasis OMIM:616740
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist... OMIM:619473
Developmental And Epileptic Encephalopathy 101
Limb joint contracture, Opisthotonus, Third degree atrioventricular block, Myoclonus, Bradycardia OMIM:619814
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Atelectasis, Hypersensitivity pneumonitis, Atopic de... ORPHA:2902
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... ORPHA:488650
Glycogen Storage Disease Of Heart, Lethal Congenital
Cataract, Prolonged QRS complex, Cyanosis, Left axis deviation, Congestive heart failure, ST segm... OMIM:261740
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Abnormal muscle fiber morphology, Tremor, Paralysis, Rhabdomyolysis, Short... ORPHA:79102
Dermatitis, Atopic
Keratoconus, Cataract, Recurrent skin infections, Eczema, Allergic rhinitis, Atopic dermatitis, F... OMIM:603165
Brown-Vialetto-Van Laere Syndrome 2
Ataxia, Facial palsy, Kyphoscoliosis, Clumsiness, Generalized amyotrophy, Scoliosis, Tongue fasci... OMIM:614707
Avian Influenza
Miscarriage, Pneumonia, Ground-glass opacification, Congestive heart failure, Rhabdomyolysis, Pne... ORPHA:454836
Ichthyosis--Cheek--Eyebrow Syndrome
Kyphoscoliosis, Sparse lateral eyebrow OMIM:146720
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:615872
Marinesco-Sjögren Syndrome
Skeletal muscle atrophy, Cataract, Ataxia, Rigidity, Myopathy, Hypertonia, Muscular dystrophy, Sc... ORPHA:559
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Urticaria, Arthritis, Conjunctivitis OMIM:617772
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational age, Abnormal left vent... ORPHA:45452
Congenital Muscular Dystrophy, Fukuyama Type
Hypoglycosylation of alpha-dystroglycan, Cataract, Camptodactyly of finger, Dilated cardiomyopath... ORPHA:272
Nemaline Myopathy 2
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Slender build, Thenar muscle atrophy, Fat... OMIM:256030
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ataxia, Cardiac arrest, Acute rhabdomyolysis, Clonus, Rhabdomyolysis, Ventricular tachycardia, Po... OMIM:616878
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Cyanosis, Facial palsy... ORPHA:31826
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Thoracic kyphoscoliosis, Cyanosis, Facial palsy, Triceps weakness, Weakn... ORPHA:98913
Bethlem Myopathy
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... ORPHA:610
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Parkinsonism, Paraparesis, Tetraparesis, Extrapyramidal dyskinesia, Apraxia OMIM:105550
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Epicanthus, Prominent superficial veins, Small for gestational age, Kinetic tremor, Kyphoscoliosi... OMIM:616817
Zebra Body Myopathy
Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr... ORPHA:97240
Glutamine Deficiency, Congenital
Recurrent respiratory infections, Erythema, Flexion contracture, Bradycardia, Camptodactyly, Neon... OMIM:610015
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Congenital Myopathy 6 With Ophthalmoplegia
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... OMIM:605637
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Recurrent Respiratory Papillomatosis
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... ORPHA:60032
Creatine Phosphokinase, Elevated Serum
Fatigue, Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Myalgia, Muscular dys... OMIM:123320
Cocaine Intoxication
Prolonged QRS complex, Myocardial infarction, Tremor, Tubulointerstitial nephritis, Colitis, Hypo... ORPHA:90068
Vitamin B12-Unresponsive Methylmalonic Acidemia
Ataxia, Paraparesis, Choreoathetosis, Cardiomyopathy, Tetraparesis, Pancreatitis ORPHA:27
Charcot-Marie-Tooth Disease Type 4D
Somatic sensory dysfunction, Postural tremor, Kyphoscoliosis, Upper limb amyotrophy, Distal senso... ORPHA:99950
Ck Syndrome
Epicanthus, Lumbar hyperlordosis, Kyphoscoliosis, Almond-shaped palpebral fissure, Upslanted palp... ORPHA:251383
Brachyolmia Type 1, Toledo Type
Back pain, Kyphoscoliosis, Short neck, Irregular vertebral endplates, Squared-off platyspondyly, ... OMIM:271630
Surfactant Metabolism Dysfunction, Pulmonary, 3
Death in infancy, Failure to thrive, Nonspecific interstitial pneumonia, Cyanosis, Crazy paving p... OMIM:610921
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Calf muscle hypertrophy, Scapular winging, Muscular dystrophy, Proximal amyotrophy OMIM:601287
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Cyanosis, Ground-glass opacification, Desquamative interstitial pneumonitis, In... OMIM:265120
Xeroderma Pigmentosum, Complementation Group D
Cataract, Entropion, Ataxia, Keratitis, Telangiectasia, Choreoathetosis, Keratoconjunctivitis sic... OMIM:278730
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Scapular winging, Bidirectional ventricular ectopy, Periodic paralysis, Sy... OMIM:170390
Myopathy, Centronuclear, 5
Hip contracture, Weakness of facial musculature, Centrally nucleated skeletal muscle fibers OMIM:615959
Rhizomelic Chondrodysplasia Punctata, Type 1
Kyphoscoliosis, Flexion contracture, Developmental cataract, Upslanted palpebral fissure, Coronal... OMIM:215100
Foxg1 Syndrome
Kyphoscoliosis, Choreoathetosis, Hyperkinetic movements, Myoclonus, Scoliosis, Decreased body wei... ORPHA:561854
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Hypertonia, Decreased level of coenzyme Q10 in skeletal muscle, Bra... OMIM:614654
Mitochondrial Myopathy, Infantile, Transient
Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... OMIM:500009
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Short neck, Spinal rigidity, Kyphosis, Hyperlordosis, Dilated cardiomyopathy, Flexion contracture... OMIM:300718
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Resting tremor, Parkinsonism, Kyphoscoliosis, Tremor, Congestive heart fai... ORPHA:3077
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Lymphoid Interstitial Pneumonia
Multiple pulmonary cysts, Skin rash, Eczema, Ground-glass opacification, Raynaud phenomenon, Resp... ORPHA:79128
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Hyperlordosis, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increase... OMIM:613157
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Faci... ORPHA:169186
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Abnormal pupil morphology, Arrhythmia ORPHA:2151
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Keratitis, Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber dia... OMIM:226670
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Cyanosis, Failure to thrive, Right ventricular fa... ORPHA:1329
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... OMIM:614022
Scholte Syndrome
Reduced subcutaneous adipose tissue, Epicanthus, Kyphoscoliosis, Abnormal pyramidal sign, Upslant... OMIM:300977
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Myositis, Skin rash, Maculopapular exanthema, Oligoarthritis, Conjun... OMIM:142680
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... OMIM:618654
Hypertrophic Neuropathy Of Dejerine-Sottas
Kyphoscoliosis, Impaired distal vibration sensation, Distal sensory impairment, Sensory ataxia, D... OMIM:145900
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Short stature, Facial palsy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Decre... OMIM:300580
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers, Dysphagia OMIM:617070
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Recurrent respiratory infections, Conjunctivitis, Recurrent sinusitis OMIM:613493
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Cataract, Hyperlordosis, Chorea, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy, Tr... ORPHA:369840
Intellectual Developmental Disorder, X-Linked 111
Spasticity, Cerebral palsy, Kyphoscoliosis OMIM:301107
Uruguay Faciocardiomusculoskeletal Syndrome
Left ventricular hypertrophy, Kyphoscoliosis, Kyphosis, Synophrys, Skeletal muscle hypertrophy, C... OMIM:300280
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy... OMIM:167320
Spastic Paraparesis And Deafness
Tremor, Cataract, Spastic paraparesis OMIM:312910
Adult-Onset Nemaline Myopathy
Flexion contracture, Increased muscle lipid content, Neuromuscular dysphagia, Upper limb muscle w... ORPHA:171442
Glycogen Storage Disease Ixd
Exercise intolerance, Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Q... OMIM:300559
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Spastic ataxia, Back pain, Somatic sensory dysfunction, Kyphoscoliosis, Rigidity, Abnormal pyrami... ORPHA:199354
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... ORPHA:99103
Congenital-Onset Steinert Myotonic Dystrophy
Speech apraxia, Bundle branch block, Cataract, Facial hypotonia, First degree atrioventricular bl... ORPHA:589821
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... OMIM:616313
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12
Limb-girdle muscle weakness, Muscular dystrophy OMIM:616094
Cockayne Syndrome Type 2
Lower limb spasticity, Ataxia, Progeroid facial appearance, Kyphosis, Flexion contracture, Uveiti... ORPHA:90322
Congenital Myopathy 10A, Severe Variant
Facial palsy, Camptodactyly of finger, Increased variability in muscle fiber diameter, Muscle fib... OMIM:614399
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Proteus Syndrome
Kyphoscoliosis, Spinal canal stenosis, Limbal dermoid, Downslanted palpebral fissures, Ptosis OMIM:176920
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Epicanthus, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin... ORPHA:33110
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Congenital muscular dystrophy OMIM:254000
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Oculopharyngodistal Myopathy 4
Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ... OMIM:619790
Flynn-Aird Syndrome
Cataract, Ataxia, Kyphoscoliosis OMIM:136300
Autosomal Dominant Brachyolmia
Increased vertebral height, Platyspondyly, Kyphoscoliosis ORPHA:93304
Usmani-Riazuddin Syndrome, Autosomal Recessive
Epicanthus, Lumbar scoliosis, Spasticity, Conjunctival hyperemia OMIM:619548
Xeroderma Pigmentosum, Complementation Group A
Entropion, Ataxia, Keratitis, Telangiectasia, Choreoathetosis, Distal sensory impairment, Conjunc... OMIM:278700
Warburg Micro Syndrome 1
Kyphoscoliosis, Spastic diplegia, Developmental cataract, Microcornea, Failure to thrive, Ptosis OMIM:600118
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Exercise-induced... OMIM:160565
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Spastic tetraplegia, Kyphoscoliosis OMIM:300886
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Ataxia, Abnormal atrioventricular conducti... ORPHA:3208
Orofaciodigital Syndrome Xi
Hypoplasia of the odontoid process, Downslanted palpebral fissures, Kyphoscoliosis OMIM:612913
Farber Disease
Skeletal muscle atrophy, Corneal opacity, Nodular pattern on pulmonary HRCT, Atelectasis, Parapar... ORPHA:333
Spondyloepiphyseal Dysplasia, Stanescu Type
Beaking of vertebral bodies, Vertebral wedging, Platyspondyly, Kyphoscoliosis OMIM:616583
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Multiple joint contractures, Recurrent infections due to aspiration, Qua... ORPHA:70
Loeffler Endocarditis
Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail... ORPHA:75566
Spinocerebellar Ataxia, Autosomal Recessive 20
Epicanthus, Ataxia, Kyphoscoliosis, Babinski sign, Macroglossia, Scoliosis, Camptodactyly, Spasti... OMIM:616354
Leukodystrophy, Hypomyelinating, 17
Death in infancy, Flexion contracture, Kyphoscoliosis OMIM:618006
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Tetraplegia/tetraparesis, Progressive spastic paraparesis, Babinski sign, Central retinal vessel ... ORPHA:506353
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Cataract, Small for gestational age, Kyphoscoliosis, Recurrent pneumonia, Flex... OMIM:214150
Combined Oxidative Phosphorylation Deficiency 39
Recurrent respiratory infections, Involuntary movements, Flexion contracture, Babinski sign, Spas... OMIM:618397
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... OMIM:617222
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Gitelman Syndrome
Prolonged QT interval, Ataxia, Paralysis, Rhabdomyolysis, Ventricular tachycardia, Paresthesia, P... OMIM:263800
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Type 1 muscle fiber predo... OMIM:608340
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Cardiomyopathy, Familial Hypertrophic, 4
Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl... OMIM:115197
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval, Speech apraxia, Hypertonia, Poor hand-eye coordination, Spasticity, Failur... OMIM:300352
Congenital Myopathy 24
Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopathy, Type 1 muscl... OMIM:617336
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Atrioventricular block, Premature ventri... OMIM:212138
Lethal Congenital Contracture Syndrome 5
Congenital contracture, Flexion contracture, Small for gestational age, Centrally nucleated skele... OMIM:615368
Congenitally Uncorrected Transposition Of The Great Arteries
Tachycardia, Cyanosis, Small for gestational age, Cardiac shunt, Congestive heart failure, Left v... ORPHA:860
Pseudohypoparathyroidism Type 2
Prolonged QT interval, Calcinosis, Paresthesia, Myoclonic spasms ORPHA:94090
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Lower limb spasticity, Ataxia, Dilated cardiomyopathy, Generalized amyotro... ORPHA:66634
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Congenital muscular dystrophy, Muscular dystrophy OMIM:613151
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Recurrent otitis media,... OMIM:240500
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Muscular dystrophy, Proximal amyotrophy OMIM:612998
Cerebrooculofacioskeletal Syndrome 4
Failure to thrive in infancy, Camptodactyly of finger, Kyphoscoliosis, Elbow flexion contracture,... OMIM:610758
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Abnormal lung morphol... ORPHA:47
High Altitude Pulmonary Edema
Tachycardia, Cyanosis, Hypoxemia, Pulmonary opacity, Pulmonary edema ORPHA:330012
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... OMIM:618920
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Kyphoscoliosis, Distal sensory impairment, Distal amyotrophy, Limb muscle weakness, Foot dorsifle... OMIM:118220
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes... OMIM:616924
Mitochondrial Complex I Deficiency, Nuclear Type 37
Skeletal muscle atrophy, Tetraplegia, Opisthotonus, Hypertonia, Bradycardia, Pulmonary arterial h... OMIM:619272
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Acne, Kyphoscoliosis, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosis OMIM:612847
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block, Weight loss ORPHA:85447
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Digital Extensor Muscle Aplasia-Polyneuropathy
Skeletal muscle atrophy, Camptodactyly of finger, Impaired pain sensation, Muscular dystrophy, Ap... ORPHA:2926
Surfactant Metabolism Dysfunction, Pulmonary, 2
Failure to thrive, Nonspecific interstitial pneumonia, Cyanosis, Spontaneous pneumothorax, Intral... OMIM:610913
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, ... OMIM:608710
Phosphoserine Aminotransferase Deficiency
Death in infancy, Hypertonia, Cyanotic episode, Myoclonus OMIM:610992
Muckle-Wells Syndrome
Episcleritis, Skin rash, Camptodactyly of finger, Vasculitis, Uveitis, Urticaria, Arthritis, Conj... ORPHA:575
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Exercise intolerance, Ragged-red muscle fibers, Growth delay, Generalized amyotrophy, Dysphagia, ... OMIM:613561
Mast Syndrome
Incoordination, Babinski sign, Spastic paraplegia, Athetosis, Dysdiadochokinesis, Hypertonia, Spa... OMIM:248900
Combined Oxidative Phosphorylation Deficiency 28
Fatigue, Ragged-red muscle fibers, Abdominal pain OMIM:616794
Poliomyelitis
Skeletal muscle atrophy, Lower limb muscle weakness, Hypoplasia of the musculature, Paralysis, Pa... ORPHA:2912
Charcot-Marie-Tooth Disease, Type 4K
Skeletal muscle atrophy, Ataxia, Kyphoscoliosis OMIM:616684
Combined Oxidative Phosphorylation Deficiency 32
Death in infancy, Kyphoscoliosis, Tremor, Spasticity, Choreoathetosis, Joint contracture, Ptosis OMIM:617664
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent respiratory infections, Failure to thrive in infancy, Portal hypertension, Paraparesis,... ORPHA:79124
13Q12.3 Microdeletion Syndrome
Recurrent respiratory infections, Congenital diaphragmatic hernia, Impaired pain sensation, Kypho... ORPHA:412035
Familial Cold Urticaria
Dysesthesia, Erythema, Urticaria, Arthritis, Conjunctivitis ORPHA:47045
Agel Amyloidosis
Cataract, Ataxia, Facial palsy, Respiratory tract infection, Bilateral ptosis, Bruising susceptib... ORPHA:85448
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Hyperlordosis, Spinal ri... ORPHA:268
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Tricuspid regurgitation, Ground-glass opacification, Atelectasis, Bronchiectasis, Abnormal pulmon... OMIM:620233
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Corneal opacity, Atrial fibrillation... ORPHA:137675
Pseudohypoparathyroidism Type 1B
Prolonged QT interval, Calcinosis, Cataract, Short neck, Conjunctivitis, Paresthesia, Myoclonic s... ORPHA:94089
Danon Disease
Wolff-Parkinson-White syndrome, Myocardial necrosis, Congestive heart failure, Dilated cardiomyop... OMIM:300257
Central Core Disease
Multiple joint contractures, Kyphoscoliosis, Myopathy, Type 1 muscle fiber predominance, Pelvic g... ORPHA:597
Adrenoleukodystrophy
Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Truncal ataxia, Low... OMIM:300100
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Ataxia, Parkinsonism, Overweight, Paraparesis, Generalized limb muscle a... ORPHA:2822
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l... ORPHA:59135
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Immunodeficiency, Common Variable, 1
Pneumonia, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Recurrent ot... OMIM:607594
Congenital Myopathy With Myasthenic-Like Onset
Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Type 1 muscle fiber pred... ORPHA:424107
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex... ORPHA:1145
Schwartz-Jampel Syndrome, Type 1
Skeletal muscle atrophy, Cervical kyphosis, Short neck, Quadriceps muscle weakness, Microcornea, ... OMIM:255800
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Epicanthus, Telecanthus, Sparse eyelashes, Progeroid facial appearance, ... ORPHA:75496
Peripartum Cardiomyopathy
Tachycardia, Right ventricular failure, Myocarditis, Congestive heart failure, Dilated cardiomyop... ORPHA:563
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Back pain, Delayed vertebral ossification, Thoracic kyphoscoliosis, Small for gestational age, Ky... OMIM:613330
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4
Muscular dystrophy OMIM:613152
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Distal amyotrophy, Kyphoscoliosis, Distal sensory impairment OMIM:607831
Lymphedema-Distichiasis Syndrome
Cataract, Recurrent skin infections, Ectropion, Corneal erosion, Tubulointerstitial nephritis, Co... ORPHA:33001
Hemophagocytic Lymphohistiocytosis, Familial, 4
Skin rash, Jaundice, Conjunctivitis OMIM:603552
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Kyphoscoliosis OMIM:236660
Idiopathic Congenital Hypothyroidism
Macroglossia, Bradycardia, Prolonged neonatal jaundice ORPHA:95717
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Conjunctivitis, Recurrent otitis media, Chronic sinusitis, Recurrent bronchitis OMIM:612692
Muscular Dystrophy, Congenital, With Rapid Progression
Congenital muscular dystrophy OMIM:254100
Spinocerebellar Ataxia 40
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... OMIM:616053
Congenital Disorder Of Glycosylation, Type Im
Death in infancy, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebrow, Dilated... OMIM:610768
Tetanus
Tachycardia, Tremor, Rigidity, Opisthotonus, Hypertension, Hypertonia, Bradycardia, Spasticity of... ORPHA:3299
Hereditary Methemoglobinemia
Cyanosis, Small for gestational age, Spastic tetraplegia, Athetosis, Hypertonia, Spasticity ORPHA:621
Glycogen Storage Disease Due To Acid Maltase Deficiency
Transient ischemic attack, Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Hyp... ORPHA:365
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyelashes, Corneal dystrophy, Keratitis, Sparse eyebrow, Facial erythema, Folliculitis, Co... OMIM:308800
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dy... ORPHA:273
Ullrich Congenital Muscular Dystrophy 2
Facial palsy, Kyphoscoliosis, Flexion contracture, Increased variability in muscle fiber diameter... OMIM:616470
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Amyotrophy of ankle musculat... ORPHA:399086
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Exercise intolerance, Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal mus... OMIM:607459
Cerebrooculofacioskeletal Syndrome 2
Cataract, Small for gestational age, Camptodactyly of finger, Kyphoscoliosis, Developmental catar... OMIM:610756
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... OMIM:603689
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... ORPHA:99104
Neuralgic Amyotrophy
Scapular winging, Acrocyanosis, Paresthesia ORPHA:2901
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr... ORPHA:251274
Dysspondyloenchondromatosis
Kyphoscoliosis, Osteoarthritis, Vertebral segmentation defect, Platyspondyly, Scoliosis, Anisospo... ORPHA:85198
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Incoordination, Paralysis, Paraparesis, Progressive spastic parapare... ORPHA:43
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Kyphoscoliosis, Distal sensory impairment, Distal amyotrophy, Limb muscle weakness, Foot dorsifle... OMIM:118200
Lassa Fever
Shock, Back pain, Miscarriage, Jaundice, Conjunctivitis ORPHA:99824
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Ataxia, Acute rhabdomyolysis, Kyphoscoliosis, Chorea, Babinski sign, Developmental cataract, Micr... OMIM:604168
Encephalopathy, Ethylmalonic
Death in infancy, Failure to thrive, Ataxia, Abnormal retinal vascular morphology, Babinski sign,... OMIM:602473
Childhood-Onset Nemaline Myopathy
Exercise intolerance, Scapular winging, Flexion contracture, Increased muscle lipid content, Gene... ORPHA:171439
Spinal Arachnoiditis
Spastic paraparesis OMIM:182950
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Muscular Dystrophy, Mabry Type
Late-onset muscular dystrophy OMIM:310000
Glossopharyngeal Neuralgia
Dysesthesia, Jaw claudication, Vocal cord paralysis, Weight loss, Syncope, Bradycardia, Abnormali... ORPHA:221098
Microphthalmia, Syndromic 13
Microcornea, Iris coloboma, Kyphoscoliosis, Ptosis OMIM:300915
Aapoaiv Amyloidosis
Back pain, Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac co... ORPHA:439232
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Short stature, Failure to thrive in infancy, Incr... OMIM:619065
Charcot-Marie-Tooth Disease, Type 4B2
Distal amyotrophy, Kyphoscoliosis, Foot dorsiflexor weakness, Distal sensory impairment OMIM:604563
Drug-Induced Lupus Erythematosus
Pericarditis, Prolonged QTc interval, Malar rash, Serositis, Petechiae ORPHA:231111
Congenital Myopathy 14
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... OMIM:618414
Primary Dystonia, Dyt4 Type
Eunuchoid habitus, Torticollis, Involuntary movements, Kyphoscoliosis, Upper limb postural tremor... ORPHA:98805
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ... OMIM:612937
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Myotubular Myopathy With Abnormal Genital Development
Death in infancy, Centrally nucleated skeletal muscle fibers, Atelectasis, Myopathy, Neonatal death OMIM:300219
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Myositis, Pericarditis, Palpebral edema, Skin r... ORPHA:93672
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Muscular dystrophy, Death in childhood, Left ventricular hypertrophy OMIM:613153
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Cataract, Sparse eyelashes, Sparse eyebrow, Keratitis, Facial erythema, Folliculitis, Conjunctivi... OMIM:612843
Familial Nasal Acilia
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis, Chronic rhinitis, Chro... ORPHA:922
Spastic Ataxia 4, Autosomal Recessive
Spastic ataxia, Babinski sign, Limb ataxia, Gait ataxia, Lower limb hypertonia, Upper limb hypert... OMIM:613672
Listeriosis
Back pain, Tremor, Conjunctivitis, Cholecystitis, Infectious encephalitis, Ataxia, Pyelonephritis... ORPHA:533
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Epicanthus, Dorsocervical fat pad, Small for gestational age, Kyphoscoliosis, Short neck, Synophr... ORPHA:391408
Episodic Ataxia Type 1
Kyphoscoliosis, Poor coordination, Clumsiness, Choreoathetosis, Calf muscle hypertrophy, Hyperton... ORPHA:37612
Rift Valley Fever
Back pain, Skin rash, Miscarriage, Paralysis, Hematemesis, Paraparesis, Jaundice, Hepatitis, Uvei... ORPHA:319251
Spastic Paraplegia 48, Autosomal Recessive
Lower limb spasticity, Ataxia, Parkinsonism, Spastic paraplegia, Dysmetria, Spastic paraparesis, ... OMIM:613647
Cockayne Syndrome Type 1
Lower limb spasticity, Failure to thrive, Cataract, Foot joint contracture, Ataxia, Progeroid fac... ORPHA:90321
Acquired Methemoglobinemia
Tachycardia, Cyanosis, Hypoxemia, Syncope, Palpitations, Arrhythmia ORPHA:464453
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Cataract, Lumbar hyperlor... ORPHA:370959
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Kyphoscoliosis, Hyperlordosis, Obesity, Coronal cleft vertebrae, Irregular verte... OMIM:618363
Zika Virus Disease
Maculopapular exanthema, Skin rash, Subcutaneous hemorrhage, Miscarriage, Arthritis, Conjunctivit... ORPHA:448237
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... OMIM:617114
Arthrogryposis, Distal, Type 2A
Short neck, Knee flexion contracture, Spina bifida occulta, Wrist flexion contracture, Neck joint... OMIM:193700
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Muscular dystrophy OMIM:204730
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers OMIM:545000
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Pericarditis, Myositis, Skin rash, Orchitis, Recurrent pharyngitis, Peritonitis, Vascu... ORPHA:32960
Spastic Paraplegia 75, Autosomal Recessive
Distal lower limb amyotrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Babin... OMIM:616680
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recurrent upper ... OMIM:263000
Mitochondrial Complex I Deficiency, Nuclear Type 8
Tetraparesis, Pancreatitis, Kyphoscoliosis OMIM:618230
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn... ORPHA:75840
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Epicanthus, Tachycardia, Tremor, Retrobulbar optic neuritis, Hypoes... OMIM:619737
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Corneal opacity, Keratitis, Synophrys, Conjunctivitis, Recurrent otitis media, Long palpebral fis... OMIM:602562
Congenital Fibrinogen Deficiency
Tachycardia, Cyanosis, Developmental cataract, Opisthotonus, Left ventricular hypertrophy, Bruisi... ORPHA:335
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Muscular dystrophy OMIM:614830
Richieri Costa-Da Silva Syndrome
Decreased muscle mass, Diastasis recti, Kyphoscoliosis, Short neck, Vertebral wedging, Skeletal m... ORPHA:3101
Trichothiodystrophy
Congenital exfoliative erythroderma, Multiple joint contractures, Abnormal pyramidal sign, Gait a... ORPHA:33364
Muscular Dystrophy, Congenital, Megaconial Type
Facial palsy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, Increased endomysial connecti... OMIM:602541
Poikiloderma With Neutropenia
Skin rash, Sparse eyebrow, Recurrent bronchopulmonary infections, Recurrent pneumonia, Nasolacrim... OMIM:604173
Congenital Disorder Of Glycosylation, Type Iik
Failure to thrive, Kyphoscoliosis OMIM:614727
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Weight loss, Arthritis, Keratoconj... OMIM:617321
Autosomal Dominant Spastic Paraplegia Type 73
Distal lower limb amyotrophy, Lower limb spasticity, Progressive spastic paraparesis, Babinski si... ORPHA:444099
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Ataxia, Dysmetria, Distal amyotrophy, Dysdiadochokinesis, Myoclonus, Increased in... OMIM:614487
Tenorio Syndrome
Telecanthus, Cerebral palsy, Raynaud phenomenon, Recurrent pneumonia, Clumsiness, Macroglossia, K... OMIM:616260
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Kyphoscoliosis OMIM:600384
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Dpm1-Cdg
Ataxia, Knee flexion contracture, Muscular dystrophy, Camptodactyly, Spasticity, Failure to thriv... ORPHA:79322
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Kyphoscoliosis OMIM:117850
Lymphedema-Distichiasis Syndrome
Ectropion, Kyphosis, Distichiasis, Conjunctivitis, Chylothorax, Recurrent corneal erosions, Arrhy... OMIM:153400
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Kyphoscoliosis, Impaired distal proprioception, Impaired distal vibration se... OMIM:601455
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Cyanosis, Abnormal atrioventricular conduction, Right ventricular failur... ORPHA:439
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Cyanosis, Congestive heart failure, Severely reduced left ventric... ORPHA:444013
Combined Oxidative Phosphorylation Defect Type 39
Lower limb spasticity, Involuntary movements, Babinski sign, Congenital foot contractures, Ankle ... ORPHA:565624
Tetrasomy 5P
Recurrent respiratory infections, Epicanthus, Cyanosis, Short neck, Congestive heart failure, Apl... ORPHA:3309
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Cyanosis, Abnormal hemidiaphragm ... ORPHA:980
Oculodentodigital Dysplasia
Epicanthus, Cataract, Ataxia, Paraparesis, Uveitis, Spasticity, Microcornea, Joint contracture of... OMIM:164200
Combined Oxidative Phosphorylation Deficiency 6
Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:300816
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Limb joint contracture, Failure to thrive in infancy, Ankle flexion contracture, Short neck, Spas... ORPHA:284417
De Sanctis-Cacchione Syndrome
Entropion, Ataxia, Keratitis, Babinski sign, Scissor gait, Telangiectasia, Choreoathetosis, Hyper... OMIM:278800
Rahman Syndrome
Telecanthus, Kyphoscoliosis, Hypertonia, Astigmatism, Camptodactyly OMIM:617537
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Buerger Disease
Acrocyanosis, Vasculitis, Paresthesia ORPHA:36258
Cerebrotendinous Xanthomatosis
Abnormal eyelid morphology, Abnormal lung morphology, Abnormal pyramidal sign, Thoracic kyphosis,... ORPHA:909
Arachnoid Cyst
Back pain, Ptosis, Facial palsy, Subarachnoid hemorrhage, Paraparesis, Slurred speech, Distal sen... ORPHA:2356
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Failure to thrive in infancy, Short neck, Synophrys, Truncal obesity, Pulm... ORPHA:529962
Scorpion Envenomation
Bundle branch block, Tremor, Prominent U wave, Hemifacial spasm, Ataxia, ST segment depression, M... ORPHA:466677
Arthrogryposis, Distal, Type 3
Epicanthus, Decreased muscle mass, Lumbar hyperlordosis, Camptodactyly of finger, Thoracolumbar s... OMIM:114300
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Restlessness, Ragged-red muscle fibers OMIM:615159
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Large for gestational age, Bradycardia, Prolonged neonatal jaundice ORPHA:226313
Pseudohypoparathyroidism Type 1C
Prolonged QT interval, Calcinosis, Cataract, Short neck, Obesity, Conjunctivitis, Paresthesia, My... ORPHA:79444
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Limb muscle weakness, Myopathy, Type 1 muscle fiber predominance, Dysphagi... OMIM:603034
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber... OMIM:605355
Spondyloepiphyseal Dysplasia Tarda
Back pain, Osteoarthritis of the distal interphalangeal joint, Short neck, Knee osteoarthritis, T... ORPHA:93284
Acute Transverse Myelitis
Impaired vibratory sensation, Back pain, Orthostatic hypotension, Somatic sensory dysfunction, Su... ORPHA:139417
Congenital Pulmonary Lymphangiectasia
Cyanosis, Tricuspid regurgitation, Congestive heart failure, Pulmonic stenosis, Pulmonary arteria... ORPHA:2414
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Acrocyanosis, Hemiplegi... ORPHA:183
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Kyphoscoliosis, Congestive heart failure, Spastic tetrap... ORPHA:324410
Spinocerebellar Ataxia, Autosomal Recessive 10
Babinski sign, Limb ataxia, Gait ataxia, Tortuosity of conjunctival vessels, Dysmetria, Fascicula... OMIM:613728
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Cataract, Kyphoscoliosis, Hand muscle weakness, Tremor, ... ORPHA:99956
Dpagt1-Cdg
Prolonged QT interval, Ataxia, Tremor, Flexion contracture, Developmental cataract, Intracranial ... ORPHA:86309
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Cutis marmorata, Myocardial infarction, Ectopia lentis, Kyphoscoliosis, Lens subluxation, Scolios... OMIM:236200
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive gait ataxia, Upp... ORPHA:254343
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Uveitis, Urticaria, Arthritis, Conjunctivitis OMIM:120100
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Epicanthus, Cyanosis, Abnormal hemidiaphragm morphology, Pneumo... ORPHA:2257
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... OMIM:310440
Peroxisome Biogenesis Disorder 8B
Lower limb spasticity, Cataract, Ataxia, Clonus, Dysesthesia, Rigidity, Babinski sign, Limb tremo... OMIM:614877
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Clonus, Poor coordination, Abnormal pyramidal sign, Spastic paraple... OMIM:238970
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Congenital Myasthenic Syndrome
Neuropathic spinal arthropathy, Ptosis, Recurrent respiratory infections, Cyanosis, Ataxia, Kypho... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Neuropathic spinal arthropathy, Ptosis, Recurrent respiratory infections, Cyanosis, Ataxia, Kypho... ORPHA:98914
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ... OMIM:620249
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Calcinosis, Cataract, Involuntary movements, Band keratopathy, Short neck,... ORPHA:79443
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Epicanthus, Bradycardia, Antecubital pterygium ORPHA:40366
Relapsing Polychondritis
Episcleritis, Pericarditis, Cataract, Chondritis of pinna, Keratitis, Myocarditis, Atelectasis, E... ORPHA:728
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Limb joint contracture, Kyphoscolio... OMIM:612079
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Flexion con... OMIM:156530
Autosomal Recessive Spastic Paraplegia Type 77
Ptosis, Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Kyphoscoliosis, Pr... ORPHA:466722
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent respiratory infections, Epicanthus, Tricuspid regurgitation, Telecanthus, Tachycardia, ... ORPHA:505248
Antisynthetase Syndrome
Aortic regurgitation, Recurrent respiratory infections, Myositis, Skin rash, Telangiectasia of th... ORPHA:81
Kid Syndrome
Angular cheilitis, Posterior blepharitis, Recurrent cutaneous fungal infections, Knee flexion con... ORPHA:477
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... OMIM:615745
Lujo Hemorrhagic Fever
Shock, Resting tremor, Skin rash, Maculopapular exanthema, Myocarditis, Fulminant hepatitis, Atel... ORPHA:319213
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Prolonged QT interval, Lower limb spasticity, Flexion contracture, Shallow orbits, Camptodactyly,... OMIM:620029
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Tricuspid regurgitation, Ataxia, Dysmetria, Right bundle branch block, Mitral regurgitation, Asti... OMIM:619576
Intellectual Developmental Disorder, Autosomal Recessive 39
Synophrys, Kyphoscoliosis OMIM:615541
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Prominent superficial veins, Camptodactyly of finger, Kyphoscoliosis, Thenar muscle atrophy, Irre... OMIM:612350
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Kyphoscoliosis, Tremor, Rigidity,... ORPHA:99750
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Lumbar hyperlordosis, Pneumonia, Kyphoscoliosis, Raynaud phenom... OMIM:607944
Pulmonary Capillary Hemangiomatosis
Cyanosis, Pulmonary edema, Diffuse alveolar hemorrhage, Right ventricular failure, Pulmonary capi... ORPHA:199241
D-Glyceric Aciduria
Spastic tetraplegia, Opisthotonus, Myoclonus, Bradycardia, Spasticity, Failure to thrive OMIM:220120
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle... OMIM:619903
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Ataxia, Lower limb muscle weakness, Dysmetria, Spastic dysarthria, Distal amyotrophy, Dysdiadocho... ORPHA:313772
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Atelectasis, Scoliosis, Chron... ORPHA:2314
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Myasthenic Syndrome, Congenital, 12
Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy OMIM:610542
Wiskott-Aldrich Syndrome
Sinusitis, Intracranial hemorrhage, Inflammation of the large intestine, Conjunctivitis, Otitis m... ORPHA:906
Distal Myotilinopathy
EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint contractures, Abnormal muscle fib... ORPHA:98911
Congenital Myopathy 2A, Typical, Autosomal Dominant
Facial palsy, Limb muscle weakness, Type 1 muscle fiber predominance, Dysphagia, Arthrogryposis m... OMIM:161800
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Cachexia, Abdominal pain, Ragged-red muscle fibers, Weight loss, Slender build OMIM:613662
Shigellosis
Failure to thrive in infancy, Pneumonia, Myocarditis, Peritonitis, Rhabdomyolysis, Uveitis, Ulcer... ORPHA:810
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Fatigue, Skeletal muscle atrophy, Exercise intolerance, Achilles tendon contracture, Ragged-red m... OMIM:615418
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Mitochondrial Complex I Deficiency, Nuclear Type 21
Growth delay, Myopathy, Ragged-red muscle fibers OMIM:618242
Coffin-Siris Syndrome 6
Epicanthus, Kyphoscoliosis, Narrow palpebral fissure, Diaphragmatic eventration, Downslanted palp... OMIM:617808
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Right bundle branch block, Reduced left ventricular ejectio... OMIM:115195
Developmental And Epileptic Encephalopathy 41
Kyphoscoliosis, Babinski sign, Flexion contracture, Tetraparesis, Spasticity OMIM:617105
Ethylmalonic Encephalopathy
Ataxia, Abnormal pyramidal sign, Acrocyanosis, Abnormality of extrapyramidal motor function, Reti... ORPHA:51188
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Recurrent respiratory infections, Entropion, Myocardial infarction, ... ORPHA:36426
Igg4-Related Pachymeningitis
Abnormality of the cervical spine, Somatic sensory dysfunction, Sinusitis, Low back pain, Lower l... ORPHA:449427
Geroderma Osteodysplasticum
Beaking of vertebral bodies, Progeroid facial appearance, Kyphoscoliosis, Neonatal wrinkled skin ... OMIM:231070
Xeroderma Pigmentosum, Variant Type
Entropion, Keratitis, Cutaneous telangiectasia, Conjunctivitis, Cutaneous photosensitivity, Ectro... OMIM:278750
Lyme Disease
Atrioventricular block, Uveitis, Arthritis, Paresthesia, Arrhythmia, Infectious encephalitis ORPHA:91546
Pulmonary Arteriovenous Malformation
Cyanosis, Transient ischemic attack, Epistaxis, Myocardial infarction, Heart murmur, Telangiectas... ORPHA:2038
Lacrimal Duct Defect
Sinusitis, Dacryocystitis, Lacrimal duct atresia, Conjunctivitis, Dacryocystocele OMIM:149700
Acrodermatitis Enteropathica
Abnormal eyebrow morphology, Failure to thrive, Abnormal eyelid morphology, Pustule, Corneal eros... ORPHA:37
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Hip contracture, Scapular winging, Ankle flexion contracture, Flexion contracture, Elbow flexion ... OMIM:617468
Crouzon Syndrome
Abnormal sacrum morphology, Conjunctivitis, Iris coloboma, Ptosis ORPHA:207
Neu-Laxova Syndrome
Skeletal muscle atrophy, Cataract, Abnormal nasolacrimal system morphology, Abnormal eyelid morph... ORPHA:2671
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... ORPHA:171433
Spastic Paraplegia Type 7
Ragged-red muscle fibers, Upper limb muscle weakness, Lower limb hypertonia, Attention deficit hy... ORPHA:99013
Xeroderma Pigmentosum, Complementation Group E
Entropion, Keratitis, Telangiectasia, Conjunctivitis, Cutaneous photosensitivity, Ectropion OMIM:278740
Behçet Disease
Myositis, Myocardial infarction, Pulmonary embolism, Abnormal pyramidal sign, Infectious encephal... ORPHA:117
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Ectropion ORPHA:411777
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Facial palsy, Limb muscle weakness, Left bundle branch block, Arrhythmia, Failure to thrive, Vent... OMIM:610131
African Trypanosomiasis
Tremor, Impaired proprioception, Choreoathetosis, Conjunctivitis, Iritis, Abnormal EKG, Abnormal ... ORPHA:3385
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Skeletal muscle atrophy, Ataxia, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, ... OMIM:300232
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Sp... ORPHA:85451
Kagami-Ogata Syndrome
Diastasis recti, Kyphoscoliosis, Flexion contracture, Pulmonary hypoplasia, Pulmonic stenosis, Bl... OMIM:608149
Kawasaki Disease
Pericarditis, Skin rash, Myocarditis, Congestive heart failure, Vasculitis, Jaundice, Hepatitis, ... ORPHA:2331
Respiratory Distress Syndrome In Premature Infants
Atelectasis, Pulmonary edema OMIM:267450
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Arthrogryposis Multiplex Congenita 5
Death in infancy, Cardiac arrest, Kyphoscoliosis, Short neck, Flexion contracture, Elbow flexion ... OMIM:618947
3-Methylglutaconic Aciduria Type 3
Choreoathetosis, Ataxia, Spastic paraparesis ORPHA:67047
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ... ORPHA:244
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Hand muscle atrophy, Intrinsic hand muscle atrophy, Upper limb muscle weakness, Dysphagia, Type 2... OMIM:601462
Lethal Congenital Contracture Syndrome 9
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Inc... OMIM:616503
Myotonic Dystrophy 2
Tachycardia, Posterior subcapsular cataract, Iridescent posterior subcapsular cataract, Premature... OMIM:602668
Spinocerebellar Ataxia Type 40
Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis, Intention tremor ORPHA:423275
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Torticollis, Multiple joint contractures, Congenital kyphoscoliosis, Repeated pneumothoraces, Ovo... ORPHA:536467
Myotonia With Skeletal Abnormalities And Mental Retardation
Skeletal muscle hypertrophy, Vertebral wedging, Firm muscles, Kyphoscoliosis OMIM:255710
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Recurrent respiratory infections, Right axis deviation, Subarachn... OMIM:232300
Atrial Fibrillation, Familial, 11
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... OMIM:614049
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent respiratory infections, Atrophic gastritis, Pneumonia, Erythema nodosum, Recurrent pneu... OMIM:614700
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low... OMIM:613954
Sepsis In Premature Infants
Tachycardia, Cyanosis, Small for gestational age, Jaundice, Enterocolitis, Bradycardia, Hypotensi... ORPHA:90051
Myopathy, Myofibrillar, 4
Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting OMIM:609452
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w... ORPHA:353
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo... ORPHA:206569
Muckle-Wells Syndrome
Conjunctival hyperemia, Conjunctivitis, Recurrent aphthous stomatitis, Maculopapular exanthema OMIM:191900
Trimethylaminuria
Hypertension, Tachycardia, Recurrent pneumonia OMIM:602079
Emanuel Syndrome
Recurrent respiratory infections, Sacral dimple, Multiple joint contractures, Hooded eyelid, Cong... ORPHA:96170
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... ORPHA:404443
Nasolacrimal Duct Cyst
Chronic irritative conjunctivitis, Abnormal lacrimal sac morphology, Dacryocystitis, Ectropion of... ORPHA:141083
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Air crescent sign, Colitis, Chemosis, Nephritis... ORPHA:73263
Atelosteogenesis, Type Ii
Death in infancy, Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral s... OMIM:256050
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Tricuspid regurgitation, Thoracolumbar scoliosis, Poor wound healing, Kypho... ORPHA:230851
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Failure to thrive, Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:71212
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia, Esopha... ORPHA:3348
Abetalipoproteinemia
Impaired vibratory sensation, Failure to thrive, Ataxia, Kyphoscoliosis, Impaired distal proprioc... ORPHA:14
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Conjunctivitis, Cholecystitis, Morbillif... ORPHA:99827
Illum Syndrome
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia OMIM:208155
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, First degree atrioventricular block, Kyphosis, Atrioventricular b... ORPHA:392
Friedreich Ataxia
Impaired vibratory sensation, Abnormal EKG, Ataxia, Congestive heart failure, Babinski sign, Impa... OMIM:229300
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Arthritis, ... OMIM:184100
Clouston Syndrome
Cataract, Sparse eyelashes, Sparse eyebrow, Ectodermal dysplasia, Conjunctivitis, Blepharitis OMIM:129500
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Highly arched eyebrow, Babinski sign, Scissor gait, Spastic tetraplegia, Dysmetria, Facial dipleg... OMIM:619121
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Ataxia, Rhabdomyolysis, ST segment depression, Hypotension, Hypocapnia, Ab... ORPHA:466650
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... OMIM:608751
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Entropion, Sudden cardiac death, A... ORPHA:537
Infant Botulism
Ptosis, Cerebral palsy, Cardiac arrest, Hypertension, Keratoconjunctivitis sicca, Hypotension, Ch... ORPHA:178478
Familial Thyroid Dyshormonogenesis
Macroglossia, Bradycardia, Prolonged neonatal jaundice ORPHA:95716
Noonan Syndrome With Multiple Lentigines
Bundle branch block, Scapular winging, Myocardial infarction, Aplasia/Hypoplasia of the abdominal... ORPHA:500
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, L... OMIM:620067
Combined Oxidative Phosphorylation Defect Type 27
Pain, Ragged-red muscle fibers, Dysphagia ORPHA:477774
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Unilateral ptosis, Cyanosis, Opisthotonus, Severe failure to thrive, Hypertonia, Pulmonic stenosi... ORPHA:3304
Contractural Arachnodactyly, Congenital
Hip contracture, Congenital kyphoscoliosis, Kyphoscoliosis, Ectopia lentis, Short neck, Elbow fle... OMIM:121050
Autosomal Recessive Progressive External Ophthalmoplegia
Exercise intolerance, Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fib... ORPHA:254886
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Reactive Arthritis
Aortic regurgitation, Pericarditis, Osteomyelitis, Abnormal pleura morphology, Pustule, Enthesiti... ORPHA:29207
Adult-Onset Distal Myopathy Due To Vcp Mutation
Back pain, Scapular winging, Abnormality of the musculature of the lower limbs, Urinary incontine... ORPHA:329478
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Neuropathic spinal arthropathy, Telecanthus, Palpebral edema, Ataxia, Kyphoscoliosis, Babinski si... ORPHA:397709
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Facial palsy, Generalized weakness of limb muscles, Limb-girdle muscle weakness... ORPHA:353327
Muscular Dystrophy, Barnes Type
Myopathy, Muscular dystrophy OMIM:158800
Cutis Laxa, Autosomal Recessive, Type Iid
Reduced subcutaneous adipose tissue, Cataract, Entropion, Kyphoscoliosis, Congestive heart failur... OMIM:617403
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Dysphagia, Arthrogryposis multiplex... OMIM:608931
Glycogen Storage Disease Due To Aldolase A Deficiency
Exercise-induced rhabdomyolysis, Decreased muscle mass, Growth delay, Viral infection-induced rha... ORPHA:57
Familial Dysautonomia
Recurrent respiratory infections, Orthostatic hypotension, Tachycardia, Corneal opacity, Ataxia, ... ORPHA:1764
Mucopolysaccharidosis, Type Iiic
Kyphoscoliosis, Synophrys, Recurrent upper respiratory tract infections, Ovoid thoracolumbar vert... OMIM:252930
X-Linked Dominant Chondrodysplasia Punctata
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Cataract, Sparse eyelashes, Kyphos... ORPHA:35173
Combined Oxidative Phosphorylation Deficiency 49
Exercise intolerance, Ragged-red muscle fibers, Myalgia OMIM:619024
Monosomy 18P
Epicanthus, Kyphoscoliosis, Short neck, Hypertension, Ptosis ORPHA:1598
Charcot-Marie-Tooth Disease, Type 4A
Distal amyotrophy, Kyphoscoliosis, Distal sensory impairment OMIM:214400
Hsd10 Disease, Infantile Type
Cyanosis, Spastic tetraparesis, Poor coordination, Spastic diplegia, Choreoathetosis, Hyperkineti... ORPHA:391428
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Muscular dystrophy OMIM:615181
Pseudo-Torch Syndrome 2
Pleural effusion, Petechiae, Bradycardia, Cerebral hemorrhage OMIM:617397
Double Outlet Right Ventricle
Tachycardia, Cyanosis, Heart murmur, Narrow palpebral fissure, Pulmonic stenosis, Pulmonary arter... ORPHA:3426
Xeroderma Pigmentosum, Complementation Group C
Entropion, Keratitis, Telangiectasia, Conjunctivitis, Cutaneous photosensitivity, Ectropion OMIM:278720
De Barsy Syndrome
Recurrent sinopulmonary infections, Epicanthus, Cataract, Corneal opacity, Decreased muscle mass,... ORPHA:2962
Benign Familial Infantile Epilepsy
Hypertonia, Limb myoclonus, Cyanosis ORPHA:306
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers, Motor tics OMIM:500003
Congenital Fiber-Type Disproportion Myopathy
Flexion contracture, Knee flexion contracture, Aspiration pneumonia, Foot dorsiflexor weakness, H... ORPHA:2020
Autosomal Recessive Spastic Paraplegia Type 9B
Skeletal muscle atrophy, Postural tremor, Kyphoscoliosis, Babinski sign, Tetraplegia, Spasticity,... ORPHA:447760
19P13.3 Microduplication Syndrome
Epicanthus, Telecanthus, Kyphoscoliosis, Upslanted palpebral fissure, Pulmonary arterial hyperten... ORPHA:447980
Musculocontractural Ehlers-Danlos Syndrome
Abnormality of the cervical spine, Decreased muscle mass, Recurrent skin infections, Cervical kyp... ORPHA:2953
Chromosome 2P16.1-P15 Deletion Syndrome
Telecanthus, Epicanthus, Kyphoscoliosis, Recurrent upper respiratory tract infections, Camptodact... OMIM:612513
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Warburg Micro Syndrome 3
Lower limb spasticity, Decreased muscle mass, Cataract, Kyphoscoliosis, Flexion contracture, Spas... OMIM:614222
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Bundle branch block, Epicanthus, Death in infancy, Vertebral fusion, Campt... ORPHA:373
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cataract, Slurred speech, Truncal ataxia, Dysmetria, Tortuosity of conjunctival vessels, Limb ata... ORPHA:284289
Eosinophilic Fasciitis
Fasciitis, Myositis, Weight loss, Arthritis, Paresthesia, Muscular edema, Acrocyanosis ORPHA:3165
Myelopathy, Htlv-1-Associated
Abnormal pyramidal sign, Spastic paraparesis OMIM:159580
Brugada Syndrome 4
Shortened QT interval, Syncope, Atrial fibrillation OMIM:611876
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Prune1-Related Neurological Syndrome
Cataract, Clonus, Spastic tetraparesis, Tongue fasciculations, Scoliosis, Spastic paraparesis, Hy... ORPHA:544469
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Myositis, Pericarditis, Skin rash, Gastritis, Myocarditis, Abnormal ... ORPHA:809
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Fucosidosis
Decreased muscle mass, Failure to thrive, Corneal opacity, Kyphosis, Abnormal pyramidal sign, Spa... ORPHA:349
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Tremor, Choreoathetosis, Lumbar kyphoscoliosis, Death in childhood, Ptosis OMIM:619422
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Congenital muscular dystrophy, Developmental cataract ORPHA:324416
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Flexion contracture, Muscular dystrophy, Scoliosis OMIM:615249
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Absent eyelashes, Lacrimal duct atresia, Ankyloblepharon, Ectodermal dysplasia,... OMIM:106260
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Pain insensitivity, Cataract, Telangiectasia of the skin, Hyperlordosis, Hypoplasia of the odonto... OMIM:616007
Acrootoocular Syndrome
Small hypothenar eminence, Epicanthus, Small for gestational age, Kyphoscoliosis, Small thenar em... ORPHA:2980
Erythermalgia, Primary
Keratoconjunctivitis sicca, Palpitations OMIM:133020
Nocardiosis
Pericarditis, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, Dacryocystitis, Peritonitis, Pn... ORPHA:31204
Amyloidosis, Hereditary, Transthyretin-Related
Ptosis, Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, Hemiparesis, Cardiomyop... OMIM:105210
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Cardiomyopathy, Pulmonary hypoplasia, Pulmonary arterial hypertension OMIM:619003
Dravet Syndrome
Incoordination, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine motor coordina... ORPHA:33069
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Flexion contracture, Premature graying of hair, Conjunctivitis, Epididym... OMIM:256040
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Exercise intolerance, Short stature, Ragged-red muscle fibers, Flexion contracture, Left ventricu... OMIM:252011
Kearns-Sayre Syndrome
Ataxia, Ragged-red muscle fibers, Cardiomyopathy, Third degree atrioventricular block, Arrhythmia... OMIM:530000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Death in infancy, Cataract, Spinal rigidity, Skeletal muscle hypertrophy, Macroglossia, Congenita... OMIM:613150
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Bronchiectasis, Abnormal cornea morphology, Chronic rhinitis, Chronic oti... OMIM:244400
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas... ORPHA:51636
Cryptogenic Organizing Pneumonia
Cyanosis, Ground-glass opacification, Pneumothorax, Weight loss, Hypoxemia ORPHA:1302
Loeys-Dietz Syndrome 5
Reduced subcutaneous adipose tissue, Decreased muscle mass, Scapular winging, Failure to thrive i... OMIM:615582
Mucopolysaccharidosis, Type Vi
Tricuspid regurgitation, Corneal opacity, Pneumonia, Lumbar hyperlordosis, Ovoid vertebral bodies... OMIM:253200
Holocarboxylase Synthetase Deficiency
Ataxia, Eczema, Weight loss, Keratoconjunctivitis, Perioral eczema ORPHA:79242
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Cataract, Clonus, Tremor, Jaundice, Hypertonia, Bradycardia, Neonatal death, Fa... OMIM:617248
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Facial hypotonia, Respiratory tract infection, Left ventricular outflow tract obstruction, Shorte... ORPHA:308552
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elbow flexi... OMIM:618138
Trichinellosis
Skin rash, Facial palsy, Babinski sign, Central retinal artery occlusion, Retinal hemorrhage, Ani... ORPHA:863
Neuroleptic Malignant Syndrome
Tachycardia, Extrapyramidal muscular rigidity, Pulmonary embolism, Tremor, Chorea, Rhabdomyolysis... ORPHA:94093
Hypotonia-Cystinuria Syndrome
Facial palsy, Postnatal growth retardation, Ragged-red muscle fibers, Failure to thrive, Polyphagia OMIM:606407
Lethal Congenital Contracture Syndrome 11
Flexion contracture, Elbow flexion contracture, Distal arthrogryposis, Pulmonary hypoplasia, Camp... OMIM:617194
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Limb ataxia, Gait ataxia, Dysmetria, Abnormality of extrapyramidal motor function, Scol... OMIM:610743
Osteogenesis Imperfecta, Type Xiii
Skeletal muscle atrophy, Kyphoscoliosis, Platyspondyly, Long eyelashes, Scoliosis, Decreased body... OMIM:614856
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... ORPHA:254864
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Death in infancy, Progeroid facial appearance, Morgagni diap... OMIM:613177
Dystonia-Deafness Syndrome 1
Pseudobulbar paralysis, Cataract, Small for gestational age, Kyphoscoliosis OMIM:607371
Hsd10 Disease
Ataxia, Tremor, Rigidity, Choreoathetosis, Myoclonus, Spastic paraparesis ORPHA:391417
Pulmonary Alveolar Microlithiasis
Cyanosis, Bronchitis, Right ventricular failure, Increased pulmonary vascular resistance, Respira... ORPHA:60025
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Flexion contracture, Hypertension, Pulmonary hypoplasia, Left ventricu... OMIM:616733
Joint Laxity, Short Stature, And Myopia
Cervical kyphosis, Iris coloboma, Kyphoscoliosis OMIM:617662
Progressive Pseudorheumatoid Dysplasia
Camptodactyly of finger, Kyphoscoliosis, Osteoarthritis, Platyspondyly, Sclerotic vertebral endpl... OMIM:208230
Snakebite Envenomation
Tachycardia, Epistaxis, Myocardial infarction, Paralysis, Angioedema, Erythema, Rhabdomyolysis, I... ORPHA:449285
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal lower limb amyotrophy, Impaired vibratory sensation, Thenar muscle atrophy, Babinski sign,... OMIM:500013
Necrotizing Enterocolitis
Shock, Small for gestational age, Peritonitis, Bradycardia, Hypotension ORPHA:391673
Larsen-Like Syndrome, Lethal Type
Neonatal death, Pulmonary insufficiency, Pulmonary hypoplasia OMIM:245650
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Viral hepatitis, Cutis marmorata, Vasculitis, Arthritis, Keratoconju... ORPHA:91138
Congenital Myopathy 13
Skeletal muscle atrophy, Telecanthus, Hypercapnia, Kyphoscoliosis, Fatty replacement of skeletal ... OMIM:255995
Congenital Sialidosis Type 2
Abnormal EKG, Cataract, Corneal opacity, Ataxia, Respiratory tract infection, Dysmetria, Developm... ORPHA:93400
Mevalonic Aciduria
Cataract, Skin rash, Ataxia, Kyphoscoliosis, Failure to thrive in infancy, Progressive cerebellar... OMIM:610377
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, EMG: myo... OMIM:609560
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Cataract, Corneal opacity, Corneal dystrophy, A... ORPHA:324
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Rhabdomyolysis, Weakness of facial musculature, Exercise-induced myalgia, Ragged-red muscle fibers OMIM:618416
Monosomy 18Q
Epicanthus, Left-to-right shunt, Slender build, Kyphoscoliosis, Congestive heart failure, Poor co... ORPHA:1600
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Bradycardia, Tongue fasciculations OMIM:608800
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Pulmonary hypoplasia OMIM:615228
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... OMIM:224700
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Torticollis, Epicanthus, Thoracic scoliosis, Kyphoscoliosis, Bilateral ptosis, Sp... ORPHA:300570
S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Failure to thrive, Muscular dystrophy ORPHA:88618
Amish Nemaline Myopathy
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina... ORPHA:98902
Chst3-Related Skeletal Dysplasia
Highly arched eyebrow, Kyphoscoliosis, Sparse eyebrow, Flexion contracture, Abnormal form of the ... ORPHA:263463
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Spastic tetraplegia, Hypertonia, Ataxia, Pulmonary hypoplasia OMIM:618174
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bilateral vocal cord paresis, Tachycardia, Erythema, Flexion contracture, Retinal hemorrhage, Cor... OMIM:614653
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial fibrillation, A... ORPHA:1677
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Ataxia, Peritonitis, Vasculitis, Erythema, Urticaria, Arthritis, Rec... ORPHA:343
Crisponi/Cold-Induced Sweating Syndrome 1
Facial palsy, Kyphoscoliosis, Short neck, Keratitis, Elbow flexion contracture, Opisthotonus, Cam... OMIM:272430
Alexander Disease Type Ii
Ataxia, Rigidity, Palatal tremor, Babinski sign, Spasticity, Scoliosis, Spastic paraparesis, Limb... ORPHA:363722
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Fatigue, Exercise intolerance, Ragged-red muscle fibers, Chest pain, Myalgia, Lower limb pain ORPHA:1349
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia, Crazy paving pattern, Failure to thrive in infancy, Acute infectious pneumonia, Hypo... ORPHA:264675
Paget Disease Of Bone 2, Early-Onset
Sandwich appearance of vertebral bodies, Vertebral compression fracture, Paraparesis, Tetraparesis OMIM:602080
Chronic Pneumonitis Of Infancy
Cyanosis, Ground-glass opacification, Hypoxemia, Diffuse reticular or finely nodular infiltration... ORPHA:91359
Marshall-Smith Syndrome
Thoracic scoliosis, Synophrys, Hypertonia, Thoracic kyphosis, Aspiration pneumonia, Death in chil... OMIM:602535
Atopic Keratoconjunctivitis
Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s... ORPHA:163934
Lichen Planus Pemphigoides
Conjunctivitis, Blepharitis ORPHA:254478
Myotonic Dystrophy 1
Atrial flutter, Cataract, Atrial fibrillation, First degree atrioventricular block, Facial diplegia OMIM:160900
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Small for gestational age, Kyphoscoliosis, Kyphosis, Premature osteoarthritis, Elbow flexion cont... ORPHA:93360
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal eyelid morphology, Uveitis, Conjunctivitis, Abnormal vertebral morphology, Absent eyebro... ORPHA:2273
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Amyotrophic Lateral Sclerosis 27, Juvenile
Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic hand muscle atrop... OMIM:620285
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Keratoconus, Gastrointestinal hemorrhage, Epicanthus, Poor wound healing, Kyphoscoliosis, Congest... OMIM:225400
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Telangiectasia of the skin, Myocardial infarction... ORPHA:221
Combined Oxidative Phosphorylation Defect Type 7
Skeletal muscle atrophy, Thoracic scoliosis, Ataxia, Abnormal pyramidal sign, Distal sensory impa... ORPHA:254930
Stiff-Person Syndrome
Tachycardia, Lumbar hyperlordosis, Exaggerated startle response, Rigidity, Opisthotonus, Hyperten... OMIM:184850
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Vertebral segmentation defect, Pulmonary hypoplasia, Abnormal lung lobation, Camptodactyly of finger ORPHA:2631
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Rhabdomyolysis, Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia ORPHA:159
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Hypoplasia of the musculature, Pulmonary hypoplasia, Neonatal death, Art... OMIM:253310
Waardenburg Syndrome, Type 4A
White eyelashes, White eyebrow, Ataxia, Blue irides, Premature graying of hair, Spastic parapares... OMIM:277580
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
Small for gestational age, Postnatal growth retardation, Arthrogryposis multiplex congenita, Bila... ORPHA:319332
Pulmonary Hypertension, Primary, 4
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... OMIM:615344
Cogan Syndrome
Episcleritis, Aortic regurgitation, Keratitis, Vasculitis, Uveitis, Large vessel vasculitis, Scle... ORPHA:1467
Autoinflammation With Arthritis And Dyskeratosis
Thyroiditis, Uveitis, Keratoconjunctivitis sicca, Punctate keratitis, Failure to thrive, Corneal ... OMIM:617388
Reynolds Syndrome
Skin rash, Telangiectasia of the skin, Jaundice, Arthritis, Keratoconjunctivitis sicca, Generaliz... ORPHA:779
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... OMIM:616867
Arthrogryposis And Ectodermal Dysplasia
Absent eyebrow, Skeletal muscle atrophy, Entropion, Trichiasis, Kyphoscoliosis, Narrow palpebral ... OMIM:601701
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Skeletal muscle atrophy, Exaggerated startle response, Cataract, Spinal rigidity, Dilated cardiom... OMIM:253800
Bilateral Perisylvian Polymicrogyria
Lower limb spasticity, Paraparesis, Flexion contracture, Oromotor apraxia, Spastic tetraplegia, D... ORPHA:98889
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Periodic paralysis, Rhabdomyolysis, Weight loss, Palpitations OMIM:188580
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Failure to thrive in infancy, Kyphoscoliosis, Short neck, Upslanted palpebral... OMIM:611209
Congenital Contractural Arachnodactyly
Congenital kyphoscoliosis, Camptodactyly of finger, Ectopia lentis, Flexion contracture, Congenit... ORPHA:115
Autosomal Recessive Spastic Paraplegia Type 23
Spastic paraplegia, Spastic gait, Kyphoscoliosis ORPHA:101003
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Scapular winging, Progeroid facial appearance, Ectopia lenti... OMIM:616914
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Epicanthus, Tachycardia, Obesity, Scoliosis, Recurrent otitis media, Muscl... ORPHA:1772
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Hypertrophic cardiomyopathy, Small for gestational age, Bradycardia OMIM:618775
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Incoordination, Recurrent infections due to aspiration, Acr... OMIM:223900
Late-Infantile/Juvenile Krabbe Disease
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... ORPHA:206443
Nestor-Guillermo Progeria Syndrome
Prominent superficial veins, Sparse eyelashes, Progeroid facial appearance, Sparse eyebrow, Flexi... OMIM:614008
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Failure to thrive, Conjunctivitis, Erythroderma OMIM:242150
Proteasome-Associated Autoinflammatory Syndrome 3
Myositis, Sinusitis, Skin rash, Flexion contracture, Arthritis, Panniculitis, Conjunctivitis, Fai... OMIM:617591
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Epicanthus, Kyphoscoliosis, Sparse eyebrow, Synophrys, Downslanted palpebral fissures OMIM:620075
Chondrodysplasia Punctata 2, X-Linked Dominant
Cataract, Sparse eyelashes, Kyphoscoliosis, Short neck, Sparse eyebrow, Hemivertebrae, Punctate v... OMIM:302960
Encephalitis Lethargica
Upper limb muscle weakness, Parkinsonism, Tremor, Bradycardia ORPHA:83600
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Spastic ataxia, Cerebral palsy, Spastic tetraparesis, Paraparesis, Failure to thrive OMIM:620358
Paroxysmal Hemicrania
Palpebral edema, Flushing, Hypertension, Rhinitis, Conjunctival hyperemia, Ptosis ORPHA:157835
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Exercise intolerance, Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased ... OMIM:258450
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Abnormality of the calf musculature, Inflammatory ... ORPHA:600
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Incoordination, Ataxia, Tremor, Shortened PR interval, Obesity, A... OMIM:614947
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Cyanosis, Lung abscess, Pneumonia, Intraalveolar phospholipid a... OMIM:610910
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Flexion contracture, Astigmatism, Thoracic kyphosis, Spa... OMIM:270200
22Q11.2 Deletion Syndrome
Abnormal eyelid morphology, Short neck, Abnormal lung lobation, Chronic otitis media, Acne, Atele... ORPHA:567
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Failure to thrive, Left-to-right shunt, Cyanosis, Congestive he... ORPHA:99050
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Nephritis, Infectious encephalitis, ... ORPHA:2552
Breath-Holding Spells
Cyanosis OMIM:607578
Neurodegeneration With Brain Iron Accumulation 6
Rigidity, Spastic tetraplegia, Bradykinesia, Distal amyotrophy, Spastic paraparesis OMIM:615643
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Cerebral palsy, Spastic tetraplegia, Hypertension, Second degree atrioventricular block, Athetosi... OMIM:615474
Trichothiodystrophy 1, Photosensitive
Death in infancy, Cataract, Small for gestational age, Flexion contracture, Telangiectasia, Micro... OMIM:601675
Pontocerebellar Hypoplasia, Type 10
Highly arched eyebrow, Short neck, Kyphoscoliosis, Synophrys, Long eyelashes, Long palpebral fiss... OMIM:615803
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Marden-Walker Syndrome
Skeletal muscle atrophy, Camptodactyly of finger, Kyphosis, Abnormal form of the vertebral bodies... ORPHA:2461
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Exercise intolerance, Ragged-red muscle fibers, Myopathy, Generalized amyotrophy, Dysphagia, Weak... ORPHA:352447
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Ifap Syndrome 2
Cataract, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca, Perior... OMIM:619016
Polymyositis
Fatigue, Anorexia, Abnormal muscle fiber morphology, Abdominal pain, Weight loss, Arthralgia, Mya... ORPHA:732
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent ... OMIM:601495
Walker-Warburg Syndrome
Skeletal muscle atrophy, Cataract, Corneal opacity, Microcornea, Muscular dystrophy, Aplasia/Hypo... ORPHA:899
Biotinidase Deficiency
Skin rash, Ataxia, Conjunctivitis, Spastic paraparesis, Limb muscle weakness, Eczematoid dermatitis ORPHA:79241
Leukodystrophy, Hypomyelinating, 2
Ataxia, Facial palsy, Rigidity, Head titubation, Babinski sign, Choreoathetosis, Progressive spas... OMIM:608804
Congenital Myopathy 15
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc... OMIM:620161
Carpenter Syndrome
Abnormal cornea morphology, Obesity, Kyphoscoliosis ORPHA:65759
Keratoendotheliitis Fugax Hereditaria
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma OMIM:148200
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity, Pneumonia, Heart murmur, Acrocyanosis ORPHA:1867
Joubert Syndrome 18
Kyphoscoliosis, Camptodactyly OMIM:614815
Seckel Syndrome 8
Kyphoscoliosis OMIM:615807
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Arthrogryposis multiplex congenita, Unilateral wrist flexion contracture, Pulmonary hypoplasia, K... OMIM:616531
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Retinal hamartoma, Atelectasis, Pn... ORPHA:538
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Synophrys, Kyphoscoliosis, Scoliosis ORPHA:391307
Microphthalmia, Syndromic 12
Neonatal death, Pulmonary hypoplasia, Congenital diaphragmatic hernia OMIM:615524
Chromomycosis
Keratitis, Abnormal lung morphology, Keratoconjunctivitis sicca, Eyelid retraction, Vascular skin... ORPHA:182
Short-Rib Thoracic Dysplasia 12
Epicanthus, Short neck, Atelectasis, Pulmonary hypoplasia, Neonatal death OMIM:269860
Tumoral Calcinosis, Normophosphatemic, Familial
Calcinosis, Conjunctivitis OMIM:610455
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Cerebral palsy, Epistaxis, Spastic paraplegia, Intracranial hemorrhage, Hypertension, Second degr... ORPHA:369929
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Death in infancy, Cyanosis, Ataxia, Ragged-red muscle fibers, Babinski s... OMIM:252010
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Prominent superficial veins, Right bundle branch block, Shal... OMIM:619322
Crouzon Syndrome
Keratitis, Abnormality of the cervical spine, Conjunctivitis, Shallow orbits OMIM:123500
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... OMIM:307200
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Abnormal pulmonary thoracic imaging finding, Bronchitis, Chor... ORPHA:289390
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Cataract, Flexion contracture, Corneal scarring, Conjunctivitis, Fragile skin OMIM:226600
Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Flexion contracture, Megalocornea, Abnormal vertebral morphology, Ir... ORPHA:536471
Chiari Malformation Type Ii
Limb muscle weakness, Cyanosis, Ataxia, Opisthotonus OMIM:207950
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Marburg Hemorrhagic Fever
Back pain, Uveitis, Conjunctival hyperemia, Internal hemorrhage, Maculopapular exanthema, Hypovol... ORPHA:99826
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Epicanthus, Congenital kyphoscoliosis, Cerebral hemorrhage, Poor wound h... ORPHA:536545
Cap Myopathy
Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Generalized amyotrophy, In... ORPHA:171881
Autosomal Recessive Ataxia, Beauce Type
Impaired vibratory sensation, Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Kyphosis, B... ORPHA:88644
Spondylometaphyseal Dysplasia, Kozlowski Type
Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Elbow flexion contracture, Platys... OMIM:184252
Neurofibromatosis, Familial Spinal
Paraparesis, Lower limb muscle weakness, Lisch nodules OMIM:162210
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Epicanthus, Telecanthus, Right bundle branch block, Scoliosis, Spasticity OMIM:618590
Isolated Thyroid-Stimulating Hormone Deficiency
Clumsiness, Macroglossia, Bradycardia, Prolonged neonatal jaundice, Failure to thrive ORPHA:90674
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Tachycardia, Skin rash, Heart block, Capillary leak, Hypoxemia, ... ORPHA:542323
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Reduced subcutaneous adipose tissue, Prominent superficial veins, Tricuspid... OMIM:617402
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased muscle mass, Cachexia, Abdominal pain, Ragged-red muscle fibers, Weight loss, Abnormali... ORPHA:298
X-Linked Charcot-Marie-Tooth Disease Type 2
Distal lower limb amyotrophy, Clasp-knife sign, Tibialis anterior muscle atrophy, Peroneal muscle... ORPHA:101076
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Eczema, Kyphoscoliosis, Minimal change glomerulonephritis OMIM:618348
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Ptosis, Epicanthus, Tricuspid regurgitation, Lacrimal duct stenosis, Highly arched eyebrow, Short... OMIM:617506
Ebstein Malformation Of The Tricuspid Valve
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Right bundle branch block, C... ORPHA:1880
Chronic Thromboembolic Pulmonary Hypertension
Osteomyelitis, Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary ... ORPHA:70591
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Atelectasis, Tetraplegia, Pulmonary fibrosis, Myoclonus, Death ... OMIM:618278
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Epicanthus, Cataract, Sparse eyelashes, Small for gestational age, Kyphoscoliosis... OMIM:268400
Adult Krabbe Disease
Somatic sensory dysfunction, Ataxia, Lower limb muscle weakness, Progressive spastic paraparesis,... ORPHA:206448
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Muscle fiber atrophy, Failure to thrive, Flexion contracture OMIM:620240
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Flexion contracture, ... ORPHA:178148
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Mitochondrial Dna Depletion Syndrome 11
Exercise intolerance, Facial palsy, Ragged-red muscle fibers, Proximal amyotrophy, Generalized am... OMIM:615084
Marfan Syndrome
Decreased muscle mass, Flexion contracture, Hypoplasia of the iris, Emphysema, Tricuspid regurgit... OMIM:154700
Leopard Syndrome 1
Bundle branch block, Epicanthus, Scapular winging, Kyphoscoliosis, Short neck, Third degree atrio... OMIM:151100
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Cyanosis, Congestive heart failure, Dilated cardiomyopathy, Heart murmur, M... ORPHA:2326
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Short stature, Fatty replacement of skeletal muscle, Hip pain, Generalized amyotrophy, Increased ... ORPHA:52430
Pericardial And Diaphragmatic Defect
Congenital diaphragmatic hernia, Hypoxemia, Aplasia of the left hemidiaphragm, Palpitations, Pulm... ORPHA:2847
Mucoepithelial Dysplasia, Hereditary
Fibrocystic lung disease, Cataract, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidi... OMIM:158310
Aortic Arch Interruption
Aortic regurgitation, Shock, Tricuspid regurgitation, Cyanosis, Blood pressure substantially high... ORPHA:2299
Fucosidosis
Anterior beaking of thoracic vertebrae, Flexion contracture, Tortuosity of conjunctival vessels, ... OMIM:230000
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Epicanthus, Failure to thrive in infancy, Myocardial infarction, Short nec... ORPHA:99413
Mosaic Monosomy X
Prolonged QT interval, Epicanthus, Failure to thrive in infancy, Myocardial infarction, Short nec... ORPHA:99228
Monosomy X
Prolonged QT interval, Epicanthus, Failure to thrive in infancy, Myocardial infarction, Short nec... ORPHA:99226
Turner Syndrome
Prolonged QT interval, Epicanthus, Failure to thrive in infancy, Myocardial infarction, Short nec... ORPHA:881
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic ataxia, Spinal muscular atrophy, Spastic tetraparesis, Progressive spastic paraparesis, D... ORPHA:496756
Sarcoidosis
Heart block, Abnormal lung morphology, Ventricular tachycardia, Uveitis, Tubulointerstitial nephr... ORPHA:797
Arthrogryposis Multiplex Congenita 6
Neonatal death, Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis m... OMIM:619334
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Bronchioli... OMIM:300755
Bohring-Opitz Syndrome
Recurrent respiratory infections, Facial hypotonia, Synophrys, Bilateral wrist flexion contractur... ORPHA:97297
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Abnormal form of the vertebral bodies, Abnormality of the orbital region,... ORPHA:371428
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Jaw claudication, Bruising susceptibility, Abnormal pu... ORPHA:85443
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crazy paving pattern, Intraalveolar phospholipid accumulation, Weight loss, Hypoxemia ORPHA:747
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Cyanosis, Small for gestational age, Anomalous pulmonary venous return, ... ORPHA:555874
Lacrimoauriculodentodigital Syndrome 2
Absent lacrimal punctum, Conjunctivitis, Lacrimal duct atresia, Lacrimal duct aplasia OMIM:620192
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, Myopathy, Dysphagia, Increased variability in muscle fiber ... ORPHA:397744
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Epicanthus, Cataract, Corneal opacity, Rhabdomyosarcoma, Abnormal lung loba... ORPHA:1052
Eisenmenger Syndrome
Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Supraventricular tachycar... ORPHA:97214
Classical-Like Ehlers-Danlos Syndrome Type 2
Thoracic scoliosis, Sacral dimple, Kyphoscoliosis, Impaired temperature sensation, Bilateral ptos... ORPHA:536532
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Death in infancy, Cyanosis, Ataxia, Spasticity, Hypertonia, Myoclonus, Death in childhood, Recurr... OMIM:618426
Adrenal Hypoplasia, Congenital
Failure to thrive, Muscular dystrophy OMIM:300200
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Limb myoclonus, Clonus ORPHA:1949
Acquired Purpura Fulminans
Shock, Skin rash, Intracranial hemorrhage, Macular purpura, Acrocyanosis, Internal hemorrhage ORPHA:49566
Oculocerebrorenal Syndrome Of Lowe
Death in infancy, Recurrent respiratory infections, Cataract, Corneal opacity, Clonus, Atelectasi... ORPHA:534
Alternating Hemiplegia Of Childhood
Facial hypotonia, Ataxia, Cardiac conduction abnormality, Tremor, Rigidity, Chorea, Episodic hemi... ORPHA:2131
Biotinidase Deficiency
Skin rash, Ataxia, Recurrent skin infections, Seborrheic dermatitis, Conjunctivitis OMIM:253260
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Exercise intolerance, Scapular winging, Ragged-red muscle fibers, Generalized limb muscle atrophy... OMIM:600462
Mucopolysaccharidosis Type 3
Recurrent sinopulmonary infections, Vocal cord paresis, Cataract, Corneal opacity, Ataxia, Respir... ORPHA:581
Arboleda-Tham Syndrome
Recurrent respiratory infections, Epicanthus, Lacrimal duct stenosis, Highly arched eyebrow, Lowe... OMIM:616268
Alg3-Cdg
Cataract, Spastic tetraparesis, Macroglossia, Cardiomyopathy, Hypertonia, Pulmonary hypoplasia, A... ORPHA:79321
Cockayne Syndrome
Skeletal muscle atrophy, Congenital contracture, Retinal arteriolar constriction, Lentiglobus, Pr... ORPHA:191
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Epicanthus, Telecanthus, Failure to thrive, Camptodactyly of finger, Mul... ORPHA:2990
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Periorbital dermoid cyst, Scapular winging, Conjunctivitis, Lacrimal duct stenosis OMIM:615560
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... OMIM:265000
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery dilatation, Congenital diaphragmatic hernia, Narrow palpebral fissure, Bradycard... OMIM:614437
Laryngeal Abductor Paralysis
Cyanosis, Vocal cord paralysis OMIM:150260
Refsum Disease
Skeletal muscle atrophy, Cataract, Ataxia, Heart block, Hemiplegia/hemiparesis, Abnormal pyramida... ORPHA:773
Graft Versus Host Disease
Skeletal muscle atrophy, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory ab... ORPHA:39812
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers OMIM:540000
Recon Progeroid Syndrome
Skeletal muscle atrophy, Progeroid facial appearance, Livedo reticularis, Red eye, Absent lower e... OMIM:620370
Hurler Syndrome
Death in infancy, Recurrent respiratory infections, Cerebral palsy, Corneal opacity, Angina pecto... ORPHA:93473
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Skeletal muscle atrophy, Epicanthus, Tricuspid regurgitation, Kyphoscoliosis, Atlantoaxial instab... OMIM:614557
Spondylospinal Thoracic Dysostosis
Arthrogryposis multiplex congenita, Pulmonary hypoplasia, Multiple pterygia OMIM:601809
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Br... OMIM:615067
Obesity-Hypoventilation Syndrome
Cyanosis, Obesity OMIM:257500
Congenital Tracheomalacia
Cyanosis, Pneumonia, Partial anomalous pulmonary venous return, Pneumothorax, Bronchiectasis, Rec... ORPHA:95430
Beta-Propeller Protein-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis ORPHA:329284
Aicardi-Goutieres Syndrome 1
Chilblains, Vasculitis, Erythema, Cardiomyopathy, Abnormality of extrapyramidal motor function, P... OMIM:225750
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Death in infancy, Kyphoscoliosis, Platyspondyly, Cervical instability, Erythroderma, Thoracolumba... OMIM:617425
Hypothyroidism Due To Tsh Receptor Mutations
Macroglossia, Bradycardia, Prolonged neonatal jaundice ORPHA:90673
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... ORPHA:363654
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Lumbar hyperlordosis, Facial hypotonia, Slender build, Kyphoscoliosis, Large for gestational age,... ORPHA:457359
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Gen... OMIM:616866
Gaucher Disease, Type Iii
Spastic paraparesis, Ataxia, Myoclonus, Decreased body weight OMIM:231000
Incontinentia Pigmenti
Cataract, Maculopapular exanthema, Kyphoscoliosis, Keratitis, Retinal vascular proliferation, Ery... OMIM:308300
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Epicanthus, Incoordination, Ataxia, Short neck, Upslanted palpebral fissure, Macroglossia, Arthro... ORPHA:369891
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Epicanthus, Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Short neck, Thoracic platyspo... ORPHA:457395
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Short neck, Narrow palpebral fissure, Stillbirth, Pulmonary hypoplasia, Neonatal death, Arthrogry... OMIM:236500
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he... OMIM:620066
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Tremor, Abnormal pyramidal sign, Eyelid coloboma, Hyperton... ORPHA:51
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame... OMIM:619461
Meckel Syndrome 14
Tricuspid regurgitation, Cyanosis, Short neck, Pneumothorax, Mitral regurgitation, Pulmonary hypo... OMIM:619879
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Hypertonia, Cyanosis, Opisthotonus OMIM:250800
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Distichiasis, Sinus bradycardia OMIM:126320
Osteogenesis Imperfecta, Type Xi
Kyphoscoliosis, Vertebral wedging, Biconcave vertebral bodies, Scoliosis, Vertebral compression f... OMIM:610968
Spinocerebellar Ataxia 28
Lower limb hypertonia, Ragged-red muscle fibers OMIM:610246
Tetrasomy 15Q26
Downslanted palpebral fissures, Kyphoscoliosis, Camptodactyly OMIM:614846
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Ataxia, Gait ataxia, Choreoathetosis, Opisthotonus, Limb hypertonia OMIM:619580
Nasopalpebral Lipoma-Coloboma Syndrome
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Upper eyelid coloboma, ... OMIM:167730
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti... OMIM:620278
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Cyanosis OMIM:610773
Porphyria, Congenital Erythropoietic
Absent eyebrow, Jaundice, Loss of eyelashes, Corneal scarring, Joint contracture of the hand, Con... OMIM:263700
Progeroid Short Stature With Pigmented Nevi
Thoracic scoliosis, Cataract, Small for gestational age, Lack of facial subcutaneous fat, Allergi... OMIM:176690
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy, Acrocyanosis ORPHA:2400
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue ORPHA:663
Developmental And Epileptic Encephalopathy 82
Spastic paraparesis, Spastic tetraplegia, Decreased body weight OMIM:618721
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Decreased muscle mass, Kyphoscoliosis, Short neck, Sparse eyebrow, Synophrys, Scoliosis, Vertebra... OMIM:309583
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Kyphoscoliosis OMIM:618339
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Short neck, Flexion contracture, Irregular vertebral endplates, Tricuspid regurgitation, Lumbar h... OMIM:143095
Congenital Left Ventricular Aneurysm
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Heart block, Bacterial endocarditis, Premature ventricular contraction ORPHA:1964
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Downslanted palpebral fissures, Premature ventricular contraction OMIM:192445
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Joint contracture of the hand, Abnormal muscle fiber morphology OMIM:175700
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Esophageal Atresia
Recurrent respiratory infections, Cyanosis, Small for gestational age, Failure to thrive in infan... ORPHA:1199
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Second degree atrioventricular block, Small for gestational age, Pulmonary arterial... OMIM:617021
Scimitar Syndrome
Recurrent respiratory infections, Left-to-right shunt, Abnormal hemidiaphragm morphology, Heart b... ORPHA:185
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, Flexion contracture... OMIM:312150
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Urinary incontinence, Cachexia, Upper-limb joint contracture, Distal amy... ORPHA:300605
Plasminogen Deficiency, Type I
Nephritis, Recurrent upper respiratory tract infections, Conjunctivitis, Periodontitis OMIM:217090
Congenital Diaphragmatic Hernia
Hypoxemia, Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia, Congenital diaphragmatic he... ORPHA:2140
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Recurrent lower respiratory tract infections, Joint contracture, Failure to thrive, Kyphoscoliosis OMIM:618005
Multiple Endocrine Neoplasia Type 2
Reduced subcutaneous adipose tissue, Prominent corneal nerve fibers, Hyperlordosis, Kyphoscoliosi... ORPHA:653
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Keratitis, Elb... OMIM:148210
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia, Tremor, Blue irides, Pulmonary hypoplasia, Spasticity, Downslant... OMIM:300978
Split Cord Malformation
Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Para... ORPHA:573278
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Telecanthus, Small for gestational age, Short neck, Flexion contracture, Pleural effusion, Platys... OMIM:616897
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Speech apraxia, Ataxia, Left ventricular noncompaction cardiomyopathy, Kyphoscoliosis, Tremor, Ky... OMIM:300967
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Cataract, Unossified sacrum... ORPHA:93296
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... ORPHA:171430
Autosomal Recessive Spastic Paraplegia Type 55
Skeletal muscle atrophy, Lower limb spasticity, Tibialis muscle weakness, Babinski sign, Distal s... ORPHA:320375
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Pustule, Cheilitis, Eosinophilic dermal infiltratio... ORPHA:293173
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Exercise intolerance, Rhabdomyolysis, Increased muscle lipid content, Exercise-induced myalgia, M... ORPHA:228302
Myasthenia Gravis
Myositis, Raynaud phenomenon, Hepatitis, Paresthesia, Rheumatoid arthritis, Acrocyanosis, Hashimo... ORPHA:589
Hypokalemic Periodic Paralysis
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology ORPHA:681
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Kyphoscoliosis, Cervical spine instability, Platyspondyly, Decreased body weight, Joint contracture OMIM:615349
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Lymphadenitis, Atelectasi... OMIM:306400
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Ovoid vertebral bodies, Kyphoscoliosis, Short neck, Ectopia lentis, Flexion contracture, Parapleg... OMIM:271640
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Epicanthus, Kyphoscoliosis, Kyphosis, Hemivertebrae, Macroglossia, Scoliosis, Spasticity OMIM:301040
Isolated Congenital Alacrima
Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, ... ORPHA:91416
Classic Progressive Supranuclear Palsy Syndrome
Parkinsonism, Tremor, Abnormal pyramidal sign, Parkinsonism with favorable response to dopaminerg... ORPHA:240071
Hajdu-Cheney Syndrome
Epicanthus, Telecanthus, Kyphoscoliosis, Short neck, Synophrys, Tall lumbar vertebral bodies, Lon... OMIM:102500
Adult Syndrome
Eczema, Nasolacrimal duct obstruction, Ectodermal dysplasia, Conjunctivitis, Cutaneous photosensi... OMIM:103285
Larsen-Like Syndrome
Recurrent otitis media, Kyphoscoliosis OMIM:608545
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Cataract, Kyphosis, Flexion contracture, Subdural hemorrhage, Retinal he... ORPHA:90324
Basilar Impression, Primary
Limb muscle weakness, Kyphoscoliosis, Horner syndrome, Short neck OMIM:109500
Sheehan Syndrome
Orthostatic hypotension, Obesity, Palpitations, Bradycardia, Hashimoto thyroiditis ORPHA:91355
Ectodermal Dysplasia-Blindness Syndrome
Recurrent respiratory infections, Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoc... ORPHA:1806
Autosomal Recessive Spastic Paraplegia Type 20
Impaired vibratory sensation, Skeletal muscle atrophy, Epicanthus, Speech apraxia, Babinski sign,... ORPHA:101000
Osteogenesis Imperfecta, Type Xvii
Decreased muscle mass, Kyphoscoliosis, Intraventricular hemorrhage, Platyspondyly, Vertebral comp... OMIM:616507
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Increased variability in muscle fiber diameter, Cataract, Muscular dystrophy OMIM:616538
Leptospirosis
Pericarditis, Skin rash, First degree atrioventricular block, Jaundice, Rhabdomyolysis, Hepatitis... ORPHA:509
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Death in infancy, Cataract, Muscular dystrophy, Death in childhood OMIM:614643
Primary Lateral Sclerosis
Somatic sensory dysfunction, Weakness due to upper motor neuron dysfunction, Progressive spastic ... ORPHA:35689
Acrorenal-Mandibular Syndrome
Epicanthus, Congenital diaphragmatic hernia, Kyphoscoliosis, Elbow flexion contracture, Hemiverte... OMIM:200980
Tarp Syndrome
Cyanosis, Pulmonary hypoplasia, Scoliosis, Athetoid cerebral palsy, Failure to thrive, Short palp... ORPHA:2886
Fetal Akinesia Deformation Sequence
Multiple joint contractures, Camptodactyly of finger, Generalized amyotrophy, Pulmonary hypoplasi... ORPHA:994
Restrictive Dermopathy 1
Prominent superficial blood vessels, Entropion, Sparse eyelashes, Limb joint contracture, Kyphosc... OMIM:275210
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Exercise intolerance, Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyol... OMIM:157640
Paternal Uniparental Disomy Of Chromosome 5
Kyphoscoliosis ORPHA:96190
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, Flexion contracture... OMIM:253290
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Hip contracture, Ataxia, Kyphoscoliosis, Knee flexion contracture, Upslanted palpebral fissure, D... ORPHA:488642
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Short stature, Facial palsy, Abnormal muscle fiber morphology ORPHA:3068
Wrinkly Skin Syndrome
Recurrent sinopulmonary infections, Epicanthus, Decreased muscle mass, Kyphoscoliosis, Excessive ... ORPHA:2834
Congenital Myopathy 22B, Severe Fetal
Hip contracture, Scapular winging, Thoracic scoliosis, Limb joint contracture, Shoulder flexion c... OMIM:620369
Marden-Walker Syndrome
Epicanthus, Decreased muscle mass, Short neck, Kyphosis, Congenital contracture, Pulmonary hypopl... OMIM:248700
Gillessen-Kaesbach-Nishimura Syndrome
Epicanthus, Telecanthus, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Abnorm... OMIM:263210
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Acromesomelic Dysplasia 4
Thoracic scoliosis, Lumbar hyperlordosis, Thoracic platyspondyly, Synophrys, Platyspondyly, Third... OMIM:619636
Transketolase Deficiency
Cataract, Conjunctivitis, Uveitis, Seborrheic dermatitis ORPHA:488618
Cardiomyopathy, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
Kindler Epidermolysis Bullosa
Corneal opacity, Recurrent skin infections, Camptodactyly of finger, Erythema, Flexion contractur... ORPHA:2908
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Cataract, Skin rash, Ataxia, Chorea, Dilated cardiomyopathy, Erythema, Spastic tetra... OMIM:618321
Melnick-Needles Syndrome
Recurrent respiratory infections, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Still... OMIM:309350
Meier-Gorlin Syndrome 7
Heart block, Second degree atrioventricular block, Vertebral segmentation defect, Pulmonary hypop... OMIM:617063
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Unilateral Polymicrogyria
Cyanosis, Epistaxis, Pulmonary arteriovenous malformation, Involuntary movements, Spastic tetrapl... ORPHA:268943
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Speech apraxia, Epicanthus, Tricuspid regurgitation, Abnormal cardiac ventricular function, Ataxi... ORPHA:466791
Criss-Cross Heart
Cyanosis, Tricuspid stenosis, Pulmonic stenosis, Mitral stenosis, Supravalvular aortic stenosis ORPHA:1461
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Kyphosis, Platyspondyly, Pulmonary hypoplasia, Downslanted ... ORPHA:2655
Dyskeratosis Congenita, X-Linked
Cataract, Sparse eyelashes, Ataxia, Premature graying of hair, Conjunctivitis, Pulmonary fibrosis... OMIM:305000
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Anterior uveitis, Back pain, Psoriasiform dermatitis, Kyphosis, Oligoarthri... OMIM:106300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Flexion contracture, Developmental cataract, Posterior synechiae of the anterior chamber, Muscula... OMIM:613154
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:2141
Postinfectious Vasculitis
Gastrointestinal inflammation, Bacterial endocarditis, Acrocyanosis, Recurrent streptococcus pneu... ORPHA:48435
Abnormal Hair, Joint Laxity, And Developmental Delay
Tricuspid regurgitation, Sinus bradycardia, Mitral regurgitation, Recurrent otitis media, Sparse ... OMIM:261990
Eales Disease
Peripheral retinal neovascularization, Anterior uveitis, Transient ischemic attack, Epistaxis, Ir... ORPHA:40923
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Tachycardia, Periodic paralysis, Weight loss OMIM:613239
Spondylometaphyseal Dysplasia, Schmidt Type
Kyphoscoliosis, Abnormality of the vertebral column, Platyspondyly, Scoliosis ORPHA:93316
Caudal Regression Syndrome
Decreased muscle mass, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebral bodies, Hypertensi... ORPHA:3027
Neurofibroma
Neoplasm of the trachea, Kyphoscoliosis, Spinal canal stenosis, Intestinal bleeding, Neoplasia of... ORPHA:252183
Chand Syndrome
Atelectasis, Ataxia, Ankyloblepharon ORPHA:1401
Severe Generalized Junctional Epidermolysis Bullosa
Recurrent skin infections, Pneumonia, Dilated cardiomyopathy, Pneumothorax, Gastrointestinal infl... ORPHA:79404
Poems Syndrome
Weight loss, Paresthesia, Sclerotic vertebral endplates, Hyperesthesia, Pulmonary arterial hypert... ORPHA:2905
Goodpasture Syndrome
Cyanosis, Glomerulonephritis, Nodular pattern on pulmonary HRCT, Ground-glass opacification, Weig... OMIM:233450
Odontochondrodysplasia 1
Death in infancy, Recurrent respiratory infections, Biconvex vertebral bodies, Coronal cleft vert... OMIM:184260
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Cyanosis, Pulmonary edema, Anomalous origin of one pulmonary a... ORPHA:3384
Wiedemann-Rautenstrauch Syndrome
Tremor, Synophrys, Hypoplastic vertebral bodies, Hypertonia, Ataxia, Lagophthalmos, Pulmonic sten... ORPHA:3455
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Short neck, Overweight, Macroglossia, Bradycardia, Prolonged neonatal jaundice, Decreased cervica... ORPHA:226307
X-Linked Intellectual Disability, Snyder Type
Unilateral ptosis, Decreased muscle mass, Involuntary movements, Kyphoscoliosis, Sparse eyebrow, ... ORPHA:3063
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Myopathy, Increased variability in muscle fiber diameter, Pelvic girdle ... ORPHA:119
You-Hoover-Fong Syndrome
Spasticity, Ataxia, Kyphoscoliosis OMIM:616954
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Transient ischemic attac... OMIM:610655
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Symblepharon, Pneumonia, Trich... ORPHA:95455
Digeorge Syndrome
Pilonidal sinus, Acne, Sclerocornea, Seborrheic dermatitis, Blepharophimosis, Atelectasis, Recurr... OMIM:188400
Osteogenesis Imperfecta, Type Xx
Vertebral compression fracture, Kyphoscoliosis, Highly arched eyebrow, Sparse lateral eyebrow OMIM:618644
Ane Syndrome
Multiple joint contractures, Generalized amyotrophy, Kyphoscoliosis ORPHA:157954
Malignant Hyperthermia, Susceptibility To, 1
Rigidity, Tachycardia, Rhabdomyolysis, Hypotension OMIM:145600
Multicentric Osteolysis, Nodulosis, And Arthropathy
Hip contracture, Peripheral opacification of the cornea, Corneal opacity, Interphalangeal joint c... OMIM:259600
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... OMIM:187300
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Epicanthus, Peripheral retinal avascularization, Miscarriage, Interphalangeal joint contracture o... ORPHA:96334
Hyperoxaluria, Primary, Type I
Cutis marmorata, Raynaud phenomenon, Arterial occlusion, Atrioventricular block, Intermittent cla... OMIM:259900
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Eczema, Absent eyelashes, Ectodermal dysplasia, Conjunctival hyperemia ORPHA:2890
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cataract, Pulmonary hypoplasia, Neonatal death, Pterygium, Anisospondyly OMIM:224410
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Sinusitis, Ataxia, Pneumonia, Facial palsy, Pustule, Respiratory tract infec... ORPHA:68
Cardiac Diverticulum
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Diastasis recti, Congestive h... ORPHA:1686
Yellow Fever
Shock, Low back pain, Acute pancreatitis, Skin rash, Supraventricular arrhythmia, Hematemesis, Ja... ORPHA:99829
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Cyanosis ORPHA:2004
Lethal Congenital Contracture Syndrome Type 1
Skeletal muscle atrophy, Pulmonary hypoplasia, Abnormal form of the vertebral bodies, Short neck ORPHA:1486
Hypermobile Ehlers-Danlos Syndrome
Keratoconus, Epicanthus, Osteoarthritis, Aplasia/Hypoplasia of the abdominal wall musculature, Ke... ORPHA:285
Hereditary Acrokeratotic Poikiloderma
Telangiectasia of the skin, Eczema, Camptodactyly of finger, Pustule, Erythema, Keratoconjunctivi... ORPHA:2907
Foix-Alajouanine Syndrome
Distal lower limb amyotrophy, Back pain, Somatic sensory dysfunction, Low back pain, Dysesthesia,... ORPHA:79093
Mitochondrial Membrane Protein-Associated Neurodegeneration
Parkinsonism, Rigidity, Babinski sign, Hand tremor, Bradykinesia, Spastic paraparesis, Spasticity... ORPHA:289560
Nasopalpebral Lipoma-Coloboma Syndrome
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e... ORPHA:2399
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Ataxia, Head titubation, Kyphosis, Interstitial emphysema, Bronchiectasis, Dysmetria, Knee flexio... OMIM:619708
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Choanal Atresia
Recurrent respiratory infections, Cyanosis, Chronic sinusitis ORPHA:137914
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Epicanthus, Thoracic scoliosis, Cervical kyphosis, Kyphoscoli... OMIM:114290
Double Outlet Left Ventricle
Cyanosis, Pulmonary artery stenosis, Abnormal right ventricular function, Failure to thrive, Syst... ORPHA:3427
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Abdominal pain, Ragged-red muscle fibers, Weight loss, Distal amyotrophy, Abdominal cra... OMIM:603041
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Endocarditis, Abnorma... ORPHA:3093
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis, Partial anomalous pulmonary venous return, Systolic heart murmur OMIM:617478
Coenzyme Q10 Deficiency, Primary, 1
Fatigue, Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeletal muscle, Dysphagia OMIM:607426
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... OMIM:600376
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Sunct Syndrome
Ptosis, Palpebral edema, Facial erythema, Conjunctival hyperemia, Flushing ORPHA:57145
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Lumbar hyperlordosis, Kyphoscoliosis, Posterior subcapsular cataract, Platyspondyly, Thoracic kyp... OMIM:271510
Trichothiodystrophy 4, Nonphotosensitive
Microcornea, Epicanthus, Keratoconjunctivitis sicca, Sparse eyelashes OMIM:234050
Robinow Syndrome, Autosomal Dominant 2
Upslanted palpebral fissure, Sacral dimple, Kyphoscoliosis, Camptodactyly OMIM:616331
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Cataract, Chronic active hepatitis, Iridocyclitis, Chronic mucocutaneous cand... OMIM:240300
Schinzel-Giedion Syndrome
Sacrococcygeal teratoma, Failure to thrive in infancy, Kyphoscoliosis, Short neck, Recurrent pneu... ORPHA:798
Epidermolysis Bullosa Simplex With Pyloric Atresia
Skin fragility with non-scarring blistering, Flexion contracture, Fragile skin, Muscular dystrophy ORPHA:158684
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Eczema, Keratoconjunctivitis sicca, Failure to thrive, Inflammatory abnormality of the... ORPHA:238468
Primary Hyperoxaluria
Failure to thrive, Cutis marmorata, Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomy... ORPHA:416
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Sinus bradycardia, Astigmatism, Scoliosis, Aspiration pneumonia OMIM:619482
Kagami-Ogata Syndrome
Diastasis recti, Kyphoscoliosis, Large for gestational age, Short neck, Blepharophimosis ORPHA:254519
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Recurrent respiratory infections, Highly arched eyebrow, Synophrys, Pulmonary hypoplasia, Scolios... OMIM:618316
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis OMIM:270150
Purine Nucleoside Phosphorylase Deficiency
Recurrent respiratory infections, Abnormal central motor function, Ataxia, Cerebral palsy, Hypert... ORPHA:760
Noonan Syndrome 1
Epicanthus, Failure to thrive in infancy, Kyphoscoliosis, Short neck, Synovitis, Chylothorax, Pul... OMIM:163950
Distal Deletion 12Q
Late onset atopic dermatitis, Telecanthus, Failure to thrive in infancy, Kyphoscoliosis, Impaired... ORPHA:96149
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Ovoid vertebral bodies, Short neck, Wafer-thin platyspondyly, Stillbi... OMIM:151210
3Q27.3 Microdeletion Syndrome
Downslanted palpebral fissures, Kyphoscoliosis ORPHA:397695
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Short neck, Kyphosis, Abnormal lung lobation, Hemivertebrae, Pul... ORPHA:958
Basal Cell Nevus Syndrome 1
Vertebral fusion, Cataract, Kyphoscoliosis, Orbital cyst, Hemivertebrae, Vertebral wedging, Scoli... OMIM:109400
Dextrocardia
Abnormal EKG, Abnormal lung lobation, T-wave inversion, Abnormal pulmonary situs morphology, Abno... ORPHA:1666
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Abnormality of the diaphragm, Pulmonary hypoplasia, Congenital diaphragmatic hernia OMIM:601163
Hepatoerythropoietic Porphyria
Recurrent bacterial skin infections, Loss of eyelashes, Severe photosensitivity, Keratoconjunctiv... ORPHA:95159
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Portal hypertension, Action tremor, Rigidity, Jaundice, Bradykinesia, Poor fine motor coordinatio... ORPHA:309854
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Cyanosis, Failure to thrive in infancy ORPHA:488627
Glycerol Kinase Deficiency
Myopathy, Small for gestational age, Muscular dystrophy, Chronic pancreatitis OMIM:307030
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrioventricular block, Platyspondyly ORPHA:93317
Nephronophthisis 2
Hypertension, Chronic tubulointerstitial nephritis, Pulmonary insufficiency, Pulmonary hypoplasia OMIM:602088
Renal-Hepatic-Pancreatic Dysplasia 2
Abnormal lung lobation, Stillbirth, Aortic valve stenosis, Pulmonary hypoplasia, Pulmonic stenosi... OMIM:615415
Oculopharyngodistal Myopathy 1
Autophagic vacuoles, Facial palsy, Weight loss, Distal amyotrophy, Dysphagia, Increased variabili... OMIM:164310
Neutral Lipid Storage Myopathy
Short stature, Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized limb muscl... ORPHA:98908
Friedreich Ataxia 2
Impaired vibratory sensation, Abnormal EKG, Incoordination, Ataxia, Congestive heart failure, Bab... OMIM:601992
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity, Kyphoscoliosis OMIM:163200
Cataracts, Spastic Paraparesis, And Speech Delay
Cataract, Spastic paraparesis OMIM:619338
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Myocardial infarction, Osteoarthritis, Intracranial hemorrha... ORPHA:740
Cog1-Cdg
Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Vertebral segmentation defect, Pulm... ORPHA:263508
Inflammatory Skin And Bowel Disease, Neonatal, 1
Perianal erythema, Pustule, Perioral erythema, Erythroderma, Failure to thrive, Blepharitis OMIM:614328
Frank-Ter Haar Syndrome
Acne, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Prominent coccyx, Campt... OMIM:249420
Achalasia, Familial Esophageal
Keratoconjunctivitis sicca, Rheumatoid arthritis OMIM:200400
Lacrimoauriculodentodigital Syndrome
Lacrimal gland aplasia, Absent lacrimal punctum, Increased corneal thickness, Hypoplasia of the l... ORPHA:2363
Overlap Myositis
Proximal muscle weakness in upper limbs, Perifascicular muscle fiber atrophy, Limb pain, Dysphagi... ORPHA:206572
Scheie Syndrome
Aortic regurgitation, Cerebral palsy, Corneal opacity, Rhinitis, Spastic paraparesis ORPHA:93474
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Back pain, Lumbar hyperlordosis, Posterior subcapsular cataract, Bilateral camptodactyly, Lumbar ... OMIM:619234
Epidermal Nevus Syndrome
Thoracolumbar scoliosis, Rhabdomyosarcoma, Progressive spastic paraparesis, Babinski sign, Weakne... ORPHA:35125
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia, Sparse eyebrow, Upslanted palpebral fissure, Vertebral segmentat... OMIM:612530
Distal Triplication 15Q
Telecanthus, Corneal dystrophy, Large for gestational age, Kyphosis, Flexion contracture, Pulmona... ORPHA:314588
Serkal Syndrome
Congenital diaphragmatic hernia, Pulmonary hypoplasia, Pulmonic stenosis ORPHA:139466
Dyssegmental Dysplasia, Silverman-Handmaker Type
Miscarriage, Short neck, Flexion contracture, Developmental cataract, Pulmonary hypoplasia, Ptery... ORPHA:1865
Combined Oxidative Phosphorylation Deficiency 24
Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature OMIM:616239
Stuve-Wiedemann Syndrome 1
Death in infancy, Ovoid vertebral bodies, Impaired pain sensation, Short neck, Elbow flexion cont... OMIM:601559
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Alveolar capillary dysplasia, Bil... OMIM:601186
Restrictive Dermopathy 2
Cyanosis OMIM:619793
Autosomal Dominant Progressive External Ophthalmoplegia
Fatigue, Exercise intolerance, Facial palsy, Quadriceps muscle weakness, Ragged-red muscle fibers... ORPHA:254892
Chronic Graft Versus Host Disease
Fasciitis, Poor wound healing, Urinary bladder inflammation, Erythema, Flexion contracture, Bronc... ORPHA:99921
Coasy Protein-Associated Neurodegeneration
Parkinsonism, Spastic paraparesis ORPHA:397725
Thanatophoric Dysplasia, Type I
Short neck, Platyspondyly, Pulmonary hypoplasia, Neonatal death, Severe platyspondyly OMIM:187600
Pitt-Hopkins Syndrome
Failure to thrive, Ataxia, Short neck, Gait ataxia, Upslanted palpebral fissure, Astigmatism, Eso... ORPHA:2896
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Epicanthus, Unilateral lung agenesis, Transient ischemic attack, Lumbar hyperlordosis, Kyphoscoli... ORPHA:500150
Early-Onset Autosomal Dominant Alzheimer Disease
Agitation, Deposits immunoreactive to beta-amyloid protein, Disinhibition ORPHA:1020
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma, Keratoconjunctivitis sicca, Orthostatic hypotension due to autonomic d... ORPHA:43393
Heart Block, Congenital
Atrioventricular block, Myocardial calcification, Absent atrioventricular node, Cardiomyopathy, M... OMIM:234700
Williams-Beuren Syndrome
Medial flaring of the eyebrow, Epicanthus, Incoordination, Failure to thrive in infancy, Portal h... OMIM:194050
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Paresthesia, Palpitations, Abnormal T-wave ORPHA:231625
Xeroderma Pigmentosum
Conjunctival telangiectasia, Failure to thrive, Cataract, Entropion, Telangiectasia of the skin, ... ORPHA:910
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Pneumonia, Osteomyelitis, Recurrent skin infections, Perianal ab... ORPHA:2968
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size, Myalgia ORPHA:2348
Parathyroid Carcinoma
Shortened QT interval, Pancreatitis, Weight loss ORPHA:143
Oculodentodigital Dysplasia
Epicanthus, Cataract, Ataxia, Camptodactyly of finger, Abnormality iris morphology, Abnormal form... ORPHA:2710
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Abnormal pulmona... ORPHA:227990
Ogden Syndrome
Abnormal eyelid morphology, Short neck, Ventricular tachycardia, Hypertonia, Supraventricular tac... OMIM:300855
Osteoporosis-Pseudoglioma Syndrome
Iris atrophy, Cataract, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral b... OMIM:259770
Diaphanospondylodysostosis
Delayed vertebral ossification, Epicanthus, Absent in utero ossification of vertebral bodies, Sho... OMIM:608022
Pparg-Related Familial Partial Lipodystrophy
Calf muscle pseudohypertrophy, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertr... ORPHA:79083
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Sacral dimple, Abnormality of the vertebral column, Pulmonary hypoplasia, Neonatal death, Abnorma... OMIM:314390
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Epicanthus, Sinusitis, Lower limb dysmetria, Kyphoscoliosis, Hyperlordosis, Mitral regurgitation,... ORPHA:363700
Lethal Congenital Contracture Syndrome 10
Torticollis, Thoracic scoliosis, Short neck, Macroglossia, Pulmonary hypoplasia, Increased variab... OMIM:617022
Limb-Mammary Syndrome
Absent lacrimal punctum, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Sparse eyebr... ORPHA:69085
Pallister-Hall-Like Syndrome
Death in infancy, Pulmonary hypoplasia OMIM:241800
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Spastic paraparesis, Palatal tremor, Truncal ataxia OMIM:113610
Cerebellar-Facial-Dental Syndrome
Cataract, Foot joint contracture, Short neck, Sparse eyebrow, S-shaped palpebral fissures, Scolio... ORPHA:444072
Congenital Myopathy 17
Telecanthus, Failure to thrive in infancy, Respiratory tract infection, Myopathy, Distal arthrogr... OMIM:618975
Choreoacanthocytosis
Peroneal muscle atrophy, Chorea, Hypertonia, Muscle fiber atrophy, Impaired vibratory sensation, ... ORPHA:2388
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Thoracolumbar scoliosis, Upslanted palpebral fissure, Aplasi... ORPHA:2437
Ehlers-Danlos Syndrome, Classic-Like
Proximal amyotrophy, Arthralgia, Muscle fiber splitting OMIM:606408
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Abnormal pulmona... ORPHA:227982
Pseudoleprechaunism Syndrome, Patterson Type
Palmoplantar cutis laxa, Abnormal odontoid process morphology, Kyphoscoliosis ORPHA:2976
Gaucher Disease, Perinatal Lethal
Opisthotonus, Pulmonary hypoplasia, Decreased body weight, Neonatal death, Arthrogryposis multipl... OMIM:608013
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Torticollis, White eyelashes, White eyebrow, Ataxia, Portal hypertension, Spastic tetraplegia, Di... OMIM:609136
Neurodegeneration With Brain Iron Accumulation 5
Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis OMIM:300894
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lower limb spasticity, Ataxia, Hemiparesis, Spastic paraparesis, Failure to thrive, Lower limb mu... ORPHA:395
Hypermanganesemia With Dystonia 1
Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality of extrap... OMIM:613280
Multiple Acyl-Coa Dehydrogenase Deficiency
Telecanthus, Jaundice, Developmental cataract, Pulmonary hypoplasia, Neonatal death OMIM:231680
Robinow Syndrome
Fused thoracic vertebrae, Small for gestational age, Kyphoscoliosis, Hemivertebrae, Scoliosis, Pu... ORPHA:97360
Sponastrime Dysplasia
Epicanthus, Cataract, Lumbar hyperlordosis, Small for gestational age, Kyphoscoliosis, Recurrent ... ORPHA:93357
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis OMIM:184253
Heterotaxy, Visceral, 1, X-Linked
Bilateral trilobed lung, Absence of the sacrum, Cyanosis, Block vertebrae, Total anomalous pulmon... OMIM:306955
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Recurrent respiratory infections, Lower limb spasticity, Multiple joint contractures, Clonus, Hai... ORPHA:447997
Congenital Erythropoietic Porphyria
Recurrent bacterial skin infections, Loss of eyelashes, Severe photosensitivity, Keratoconjunctiv... ORPHA:79277
1Q41Q42 Microdeletion Syndrome
Upslanted palpebral fissure, Pulmonary hypoplasia, Abnormality iris morphology, Congenital diaphr... ORPHA:250999
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Palpebral edema, Enlarged lacrimal glands, Thyroiditis, Abnormality of the orbital regi... ORPHA:79078
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Bilateral ptosis, Rhinitis, Orthostatic syncope, Syncope ORPHA:230
Atelosteogenesis Type I
Telecanthus, Coronal cleft vertebrae, Platyspondyly, Pulmonary hypoplasia, Scoliosis, Absent or m... ORPHA:1190
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis OMIM:261680
Plague
Chapped lip, Tachycardia, Skin rash, Erythema nodosum, Lymphadenitis, Hematemesis, Slurred speech... ORPHA:707
Peroxisome Biogenesis Disorder 1A (Zellweger)
Epicanthus, Cataract, Brushfield spots, Upslanted palpebral fissure, Macroglossia, Death in child... OMIM:214100
Neurodegeneration And Seizures Due To Copper Transport Defect
Pneumothorax, Tricuspid regurgitation, Pulmonary hypoplasia, Limb hypertonia OMIM:620306
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Chromosome 13Q33-Q34 Deletion Syndrome
Epicanthus, Small for gestational age, Small thenar eminence, Pulmonary hypoplasia, Pulmonic sten... OMIM:619148
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Small for gestational age, Jaundice, Dilated cardi... OMIM:619573
Onychotrichodysplasia And Neutropenia
Chronic irritative conjunctivitis, Short eyelashes, Curly eyelashes OMIM:258360
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Laterally extended eyebrow, Synophrys, Gait ataxia, Keratoconjunctivitis sicca, Long eyelashes OMIM:618479
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Spasticity, Muscular dystrophy, Opacification of the corneal stroma, Myoclonus, Megaloc... OMIM:253280
Fetal Akinesia Deformation Sequence 1
Hip contracture, Telecanthus, Decreased muscle mass, Small for gestational age, Elbow contracture... OMIM:208150
Renal Hypodysplasia/Aplasia 1
Hypertension, Pulmonary hypoplasia OMIM:191830
Fontaine Progeroid Syndrome
Hypoplasia of the abdominal wall musculature, Synophrys, Neonatal death, Recurrent aspiration pne... OMIM:612289
Kniest Dysplasia
Hip contracture, Cataract, Short neck, Coronal cleft vertebrae, Platyspondyly, Lumbar kyphoscolio... OMIM:156550
Achondroplasia
Death in infancy, Lumbar hyperlordosis, Lumbar kyphosis in infancy, Pulmonary hypoplasia, Spinal ... OMIM:100800
Renal Tubular Dysgenesis
Pulmonary hypoplasia, Hypotension OMIM:267430
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Recurrent pneumonia, Vasculitis, Hematochezia, Subconjunctival hemorrhage, Inflammatio... OMIM:617718
Hypothyroidism, Congenital, Nongoitrous, 2
Macroglossia, Bradycardia OMIM:218700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Corneal opacity, Congenital contracture, Megalocornea, Congenital muscular dystrophy OMIM:236670
Myasthenic Syndrome, Congenital, 21, Presynaptic
Knee flexion contracture, Weakness of facial musculature, Cyanosis, Ptosis OMIM:617239
Meacham Syndrome
Death in infancy, Aplasia of the right hemidiaphragm, Partial anomalous pulmonary venous return, ... OMIM:608978
Phacoanaphylactic Uveitis
Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, ... ORPHA:209959
Genitourinary And/Or Brain Malformation Syndrome
Epicanthus, Kyphoscoliosis, Upslanted palpebral fissure, Astigmatism, Epicanthus inversus, Short ... OMIM:618820
Intellectual Developmental Disorder, Autosomal Recessive 78
Kyphoscoliosis OMIM:620237
Say-Barber-Miller Syndrome
Thoracic kyphoscoliosis, Eczema, Highly arched eyebrow, Sparse eyebrow, Erythema nodosum, Babinsk... ORPHA:3132
Hyperparathyroidism-Jaw Tumor Syndrome
Shortened QT interval, Pancreatitis ORPHA:99880
Pagod Syndrome
Death in infancy, Congenital diaphragmatic hernia, Sudden cardiac death, Pulmonary artery hypopla... ORPHA:991
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Epicanthus, Congenital diaphragmatic hernia, Large for gestational age, Tremor, Choreoathetosis, ... OMIM:614080
Coffin-Lowry Syndrome
Telecanthus, Cutis marmorata, Highly arched eyebrow, Kyphosis, Lumbar kyphosis, Mitral regurgitat... OMIM:303600
Lacrimoauriculodentodigital Syndrome 1
Absent lacrimal punctum, Telecanthus, Hypoplastic lacrimal duct, Hypoplasia of the lacrimal punct... OMIM:149730
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Band keratopathy, Hepatitis, Chronic mucocutaneous candidiasis, Chronic hepatitis, Kera... OMIM:269200
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Upslanted palpebral fissure, Abnormally ossified vertebrae, Pulmonary hypoplasia ORPHA:3035
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Hip contracture, Kyphoscoliosis, Minimal subcutaneous fat, Knee flexion contracture OMIM:210730
Atelosteogenesis Type Ii
Epicanthus, Telecanthus, Cervical kyphosis, Thoracolumbar kyphoscoliosis, Short neck, Elbow flexi... ORPHA:56304
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Aggressive behavior, Flexion contracture, Ragged-red muscle fibers, Rhab... ORPHA:17
Cardiac Valvular Dysplasia 1
Tricuspid regurgitation, Cyanosis, Tricuspid stenosis, Valvular pulmonary stenosis, Mitral regurg... OMIM:212093
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Corneal opacity, Corneal dystrophy, Short neck, Sparse eyebrow, Synophrys, Slurred speech, Kerato... ORPHA:495875
Mosaic Trisomy 1
Thoracic scoliosis, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexion contr... ORPHA:1692
Oligomeganephronia
Pulmonary venous occlusion, Small for gestational age, Congenital diaphragmatic hernia, Hypertens... ORPHA:2260
Heterotaxy, Visceral, 7, Autosomal
Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous... OMIM:616749
Maternal Uniparental Disomy Of Chromosome 2
Miscarriage, Respiratory infections in early life, Contractures of the large joints, C1-C2 verteb... ORPHA:96179
Congenital Total Pulmonary Venous Return Anomaly
Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Cyanosis, Right ventricul... ORPHA:99125
Pelizaeus-Merzbacher Disease In Female Carriers
Hand apraxia, Babinski sign, Lower limb spasticity, Spastic paraparesis ORPHA:280229
Microcephaly-Micromelia Syndrome
Neonatal death, Pulmonary hypoplasia, Short palpebral fissure, Short neck OMIM:251230
Matthew-Wood Syndrome
Abnormal lung morphology, Failure to thrive, Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:2470
Native American Myopathy
Skeletal muscle atrophy, Short stature, Abnormality of skeletal muscle fiber size, Congenital con... ORPHA:168572
Teebi Hypertelorism Syndrome 1
Highly arched eyebrow, Bilateral ptosis, Upslanted palpebral fissure, Pulmonary hypoplasia, Downs... OMIM:145420
Classical Ehlers-Danlos Syndrome
Epicanthus, Orthostatic hypotension, Prematurely aged appearance, Poor wound healing, Dermatochal... ORPHA:287
Glycogen Storage Disease Xii
Short stature, Myopathy, Delayed puberty, Increased variability in muscle fiber diameter, Muscle ... OMIM:611881
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Impaired pain sensation, Recurrent upper respiratory tract infections, Obesity, Scolios... ORPHA:293987
Fatty Acid Hydroxylase-Associated Neurodegeneration
Progressive spastic paraparesis, Progressive spastic quadriplegia, Progressive gait ataxia, Progr... ORPHA:329308
Adrenomyeloneuropathy
Back pain, Dysesthesia, Progressive spastic paraparesis, Babinski sign, Distal sensory impairment... ORPHA:139399
Multiple Endocrine Neoplasia Type 1
Shortened QT interval, Hematemesis, Weight loss, Melena, Hypertension ORPHA:652
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Spasticity, Muscular dystrophy, Opacification of the corneal stroma OMIM:615287
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Portal hypertension, Hematemesis, Hypertension, Pulmonary hypoplasia, Neonatal death OMIM:263200
Osteogenesis Imperfecta
Aortic regurgitation, Somatic sensory dysfunction, Corneal opacity, Ataxia, Cerebral hemorrhage, ... ORPHA:666
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia, Hypercapnia OMIM:601887
Monosomy 22Q13.3
Epicanthus, Sacral dimple, Recurrent skin infections, Palpebral edema, Impaired pain sensation, H... ORPHA:48652
Pancreatic Triacylglycerol Lipase Deficiency
Keratoconjunctivitis sicca, Colitis, Weight loss ORPHA:309031
Neuromuscular Oculoauditory Syndrome
Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, EMG: myopathic abnormal... OMIM:618733
Pallister-Killian Syndrome
Telecanthus, Cataract, Sparse eyelashes, Epicanthus, Congenital diaphragmatic hernia, Sacral dimp... OMIM:601803
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Ragged-red muscle fibers ORPHA:70595
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Death in infancy, Recurrent respiratory infections, Jaundice, Pulmonary hypoplasia, Pulmonary ins... OMIM:208500
Smith-Lemli-Opitz Syndrome
Epicanthus, Cataract, Cutis marmorata, Sclerocornea, Congenital diaphragmatic hernia, Abnormal ey... ORPHA:818
Agnathia-Otocephaly Complex
Downslanted palpebral fissures, Pulmonary hypoplasia OMIM:202650
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Ragged-red muscle fibers OMIM:614924
Platyspondylic Dysplasia, Torrance Type
Platyspondyly, Pulmonary hypoplasia ORPHA:85166
Intellectual Developmental Disorder, Autosomal Dominant 38
Hair-pulling, Epicanthus, Downslanted palpebral fissures, Ataxia OMIM:616393
Raine Syndrome
Death in infancy, Highly arched eyebrow, Short neck, Pulmonary hypoplasia, Neonatal death, Arthro... OMIM:259775
Diaphragmatic Hernia 4, With Cardiovascular Defects
Diaphragmatic eventration, Aortopulmonary window, Coronal cleft vertebrae, Pulmonary artery hypop... OMIM:620025
Otopalatodigital Syndrome Type 2
Failure to thrive, Cataract, Camptodactyly of finger, Pulmonary hypoplasia, Scoliosis, Abnormal v... ORPHA:90652
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Epicanthus, Kyphoscoliosis, Short neck, Obesity, Upslanted palpebral fissure, Macroglossia, Lower... OMIM:309580
Pmm2-Cdg
Epicanthus, Pericarditis, Cataract, Angina pectoris, Multiple joint contractures, Ataxia, Kyphosc... ORPHA:79318
Alg9-Cdg
Lower limb spasticity, Telecanthus, Tricuspid regurgitation, Torticollis, Hypoplasia of the muscu... ORPHA:79328
Generalized Arterial Calcification Of Infancy
Cyanosis, Transient ischemic attack, Failure to thrive in infancy, Abnormal retinal artery morpho... ORPHA:51608
Melas
Exercise intolerance, Short stature, Ragged-red muscle fibers, Myopathy, Failure to thrive, Abnor... ORPHA:550
Achondrogenesis, Type Ia
Hypoplastic sacrum, Short neck, Stillbirth, Pulmonary hypoplasia, Unossified vertebral bodies OMIM:200600
Congenital Tracheal Stenosis
Cyanosis, Abnormal lung morphology, Abnormal lung lobation, Pulmonary artery atresia, Anomalous o... ORPHA:141127
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Erythema, Flexion contracture, Stillbirth, Pulmonary hypoplasia, Scoliosis, Vertebral hypoplasia OMIM:308050
Otopalatodigital Syndrome, Type Ii
Cataract, Elbow contracture, Kyphoscoliosis, Short neck, Platyspondyly, Stillbirth, Spondylolysis... OMIM:304120
Smith-Lemli-Opitz Syndrome
Death in infancy, Epicanthus, Cataract, Sacral dimple, Eczema, Abnormal lung lobation, Severe pho... OMIM:270400
Atrial Septal Defect 1
Second degree atrioventricular block, Aortic valve stenosis OMIM:108800
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Epicanthus, Pulmonary hypoplasia, Aplasia/Hypoplasia of the eyebrow OMIM:614091
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Decreased muscle mass, Elbow flexion contracture, EMG: myopathic abnormalities, Wrist drop, Muscl... ORPHA:1900
Greenberg Dysplasia
Abnormal lung lobation, Punctate vertebral calcifications, Hypoplastic vertebral bodies, Horizont... OMIM:215140
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Hemivertebrae, Pulmonary hypoplasia, Supernumerary... OMIM:271520
Acrocephalopolydactylous Dysplasia
Epicanthus, Short neck, Upslanted palpebral fissure, Pulmonary hypoplasia, Extrapulmonary sequestrum OMIM:200995
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:617895
Primary Triglyceride Deposit Cardiomyovasculopathy
Increased muscle lipid content, Abnormality of the calf musculature, Skeletal myopathy, Abnormali... ORPHA:565612
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia, Pulmonary artery stenosis, Bilateral lung agenesis, Congenital p... OMIM:611812
Microphthalmia, Syndromic 1
Lumbar hyperlordosis, Kyphoscoliosis, Spastic diplegia, Microcornea, Ciliary body coloboma, Pulmo... OMIM:309800
Fryns Syndrome
Short neck, Large for gestational age, Narrow palpebral fissure, Aplasia of the left hemidiaphrag... OMIM:229850
Microphthalmia, Syndromic 2
Flexion contracture, Developmental cataract, Microcornea, Contracture of the proximal interphalan... OMIM:300166
Idiopathic Panuveitis
Conjunctival hyperemia, Cataract, Red eye, Posterior synechiae of the anterior chamber ORPHA:280921
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Peritonitis, Pyelonephritis, Bidirectional shunt, Elevated pulmonary artery pressure, Pulmonary h... OMIM:619351
Distal Deletion 15Q
Small for gestational age, Congenital diaphragmatic hernia, Upslanted palpebral fissure, Pulmonar... ORPHA:1596
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Epicanthus, Telecanthus, Pain insensitivity, Eczema, Short neck, Hair-pulling, Recurrent pneumoni... OMIM:620330
Floating-Harbor Syndrome
Speech apraxia, Small for gestational age, Kyphoscoliosis, Short neck ORPHA:2044
Pentalogy Of Cantrell
Scoliosis, Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:1335
Floating-Harbor Syndrome
Kyphoscoliosis, Short neck, Atopic dermatitis, Long eyelashes, Recurrent otitis media OMIM:136140
Fryns Syndrome
Corneal opacity, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Short neck ORPHA:2059
Mitochondrial Dna-Associated Leigh Syndrome
Failure to thrive, Ragged-red muscle fibers, Dysphagia ORPHA:255210
Renal Agenesis, Bilateral
Epicanthus, Pulmonary hypoplasia, Abnormal sacrum morphology ORPHA:1848
Renal-Hepatic-Pancreatic Dysplasia 1
Neonatal death, Aortic valve stenosis, Pulmonary hypoplasia, Portal hypertension OMIM:208540
Neu-Laxova Syndrome 1
Ablepharon, Cataract, Short neck, Absent eyelashes, Yellow subcutaneous tissue covered by thin, s... OMIM:256520
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Arthrogryposis multiplex congenita, Pulmonary hypoplasia ORPHA:86822
Genitopatellar Syndrome
Hip contracture, Arthrogryposis multiplex congenita, Pulmonary hypoplasia, Knee flexion contracture ORPHA:85201
Juvenile Xanthogranuloma
Hyphema, Uveitis, Asymmetry of iris pigmentation, Iritis, Blepharitis ORPHA:158000
Joubert Syndrome 21
Ataxia, Pulmonary hypoplasia, Oculomotor apraxia, Chronic sinusitis, Ptosis OMIM:615636
Vacterl With Hydrocephalus
Absence of the sacrum, Hemivertebrae, Abnormal form of the vertebral bodies, Microcornea, Pulmona... ORPHA:3412
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Epicanthus, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermatiti... ORPHA:83617
Renal Agenesis
Hypertension, Pulmonary hypoplasia ORPHA:411709
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Exercise intolerance, Rhabdomyolysis, Ragged-red muscle fibers, Neonatal death, Failure to thrive OMIM:124000
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Sparse eyebrow, Stillbirth, Pulmonary hypoplasia OMIM:616300
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Failure to thrive, Pulmonary hypoplasia OMIM:615503
Mosaic Trisomy 16
Small for gestational age, Abnormal lung morphology, Abnormality of the cervical spine, Pulmonary... ORPHA:1708
Tetrasomy 9P
Epicanthus, Myositis, Pericarditis, Sacral dimple, Short neck, Raynaud phenomenon, Jaundice, Arth... ORPHA:3310
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Platyspondyly, Tricuspid regurgitation, Pulmonary hypoplasia OMIM:263520
Ring Chromosome 7 Syndrome
Unilateral ptosis, Epicanthus, Highly arched eyebrow, Bilateral ptosis, Heart murmur, Lumbar kyph... ORPHA:1449
Argininemia
Progressive spastic quadriplegia, Frequent falls, Spastic gait, Spastic paraparesis OMIM:207800
Trichotillomania
Hair-pulling OMIM:613229
Blomstrand Lethal Chondrodysplasia
Telecanthus, Cataract, Pulmonary hypoplasia, Platyspondyly ORPHA:50945
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Spontaneous pneumothorax, Cholangitis, Portal hypertension, Jaundice... ORPHA:731
Restrictive Dermopathy
Thoracic kyphoscoliosis, Telecanthus, Entropion, Multiple joint contractures, Camptodactyly of fi... ORPHA:1662
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Neonatal death, Pulmonary hypoplasia, Short neck OMIM:617925
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Pulmonary hypoplasia, Congenital diaphragmatic hernia, Short neck OMIM:616546
Meckel Syndrome, Type 6
Bilobed right lung, Pulmonary hypoplasia OMIM:612284
Cardiac-Urogenital Syndrome
Tachycardia, Congenital diaphragmatic hernia, Partial anomalous pulmonary venous return, Pulmonar... OMIM:618280
Meckel Syndrome, Type 1
Camptodactyly of finger, Short neck, Pulmonary hypoplasia, Epicanthus inversus, Iris coloboma, Pt... OMIM:249000
Thoracoabdominal Syndrome
Pulmonary hypoplasia, Congenital diaphragmatic hernia OMIM:313850
Orofaciodigital Syndrome Type 4
Recurrent respiratory infections, Camptodactyly of finger, Bilateral lung agenesis, Pulmonary hyp... ORPHA:2753
Fraser Syndrome 1
Absent eyebrow, Corneal opacity, Absent eyelashes, Upper eyelid coloboma, Lacrimal duct aplasia, ... OMIM:219000
Fraser Syndrome
Death in infancy, Abnormal lung lobation, Lacrimal duct aplasia, Malformed lacrimal duct, Vertebr... ORPHA:2052
Tetraamelia Syndrome 1
Peripheral pulmonary vessel aplasia, Cataract, Pulmonary hypoplasia, Congenital diaphragmatic hernia OMIM:273395
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Hemivertebrae, Pulmonary hypoplasia ORPHA:1112
Craniofacial Microsomia 1
Block vertebrae, Hypoplasia of facial musculature, Blepharophimosis, Hemivertebrae, Upper eyelid ... OMIM:164210
Genitopatellar Syndrome
Hip contracture, Knee flexion contracture, Pulmonary hypoplasia, Scoliosis, Downslanted palpebral... OMIM:606170
Singleton-Merten Syndrome 1
Muscle fiber atrophy, Short stature, Tendon rupture, Decreased body weight OMIM:182250
Ulbright-Hodes Syndrome
Pneumothorax, Ovoid thoracolumbar vertebrae, Pulmonary hypoplasia, Short neck ORPHA:3404
Mckusick-Kaufman Syndrome
Pulmonary hypoplasia OMIM:236700
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Epicanthus, Cataract, Pulmonary hypoplasia, Absent or minimally ossified vertebral bodies ORPHA:93271
Penile Agenesis
Bilateral lung agenesis, Pulmonary hypoplasia ORPHA:49

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 Syne1

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 Syne1.

No publications found that use IMPC mice or data for Syne1.

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
Syne1em1H Point Mutation Mice
Syne1tm234803(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Syne1em2H Point Mutation Mice
Syne1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Syne1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Syne1em1(IMPC)Bay Exon Deletion Mice

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