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Gene: Dmd MGI:94909

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Gene Summary

Name:
dystrophin, muscular dystrophy
Synonyms:
Dp71,  Dp427,  X-linked muscular dystrophy,  pke,  mdx,  Duchenne muscular dystrophy,  dys

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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
increased circulating aspartate transaminase level Dmdem1(IMPC)Hmgu HOM Early adult 0.00
decreased grip strength Dmdem1(IMPC)Hmgu HOM Early adult 1.74×10-05
decreased mean corpuscular hemoglobin Dmdem1(IMPC)Hmgu HOM Early adult 9.66×10-05
increased circulating aspartate transaminase level Dmdem1(IMPC)Hmgu HEM Early adult 0.00
decreased bone mineral content Dmdem1(IMPC)Hmgu HOM Early adult 9.10×10-13
increased circulating alanine transaminase level Dmdem1(IMPC)Hmgu HOM Early adult 0.00
decreased mean corpuscular volume Dmdem1(IMPC)Hmgu HEM Early adult 1.82×10-12
decreased total body fat amount Dmdem1(IMPC)Hmgu HOM Early adult 2.75×10-11
increased lean body mass Dmdem1(IMPC)Hmgu HEM Early adult 2.85×10-06
abnormal bone structure Dmdem1(IMPC)Hmgu HOM Early adult 0.00
increased lean body mass Dmdem1(IMPC)Hmgu HOM Early adult 5.22×10-15
increased circulating alkaline phosphatase level Dmdem1(IMPC)Hmgu HOM Early adult 3.95×10-05
abnormal bone structure Dmdem1(IMPC)Hmgu HEM Early adult 4.99×10-05
decreased mean corpuscular volume Dmdem1(IMPC)Hmgu HOM Early adult 3.24×10-07
thrombocytosis Dmdem1(IMPC)Hmgu HOM Early adult 7.68×10-10
increased circulating total protein level Dmdem1(IMPC)Hmgu HOM Early adult 1.44×10-06
increased red blood cell distribution width Dmdem1(IMPC)Hmgu HOM Early adult 3.27×10-08
decreased total body fat amount Dmdem1(IMPC)Hmgu HEM Early adult 2.15×10-05
increased circulating serum albumin level Dmdem1(IMPC)Hmgu HOM Early adult 2.35×10-06
increased circulating alanine transaminase level Dmdem1(IMPC)Hmgu HEM Early adult 3.36×10-07

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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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Dmd 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 predicted to be associated to Dmd by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Scapulohumeral muscular dystrophy, Myopathy, Elevated circulating creatine kinase concentration OMIM:160570
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Muscular Dystrophy, Limb-Girdle, Type 1H
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, E... OMIM:613530
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... OMIM:601846
Myopathy, Sarcoplasmic Body
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620286
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... OMIM:601954
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Lower lim... OMIM:254130
Polyglucosan Body Myopathy 2
Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Muscle fibe... OMIM:616199
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:254110
Myopathy, Vacuolar, With Casq1 Aggregates
Proximal muscle weakness, Muscle fiber calsequestrin 1-containing inclusion bodies, Muscle weakne... OMIM:616231
Miyoshi Muscular Dystrophy 3
Muscular dystrophy, Distal upper limb muscle weakness, Quadriceps muscle weakness, Elevated circu... OMIM:613319
Rhabdomyolysis, Susceptibility To, 1
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:620235
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Elev... OMIM:608807
Tibial Muscular Dystrophy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... ORPHA:609
Myopathy, Myofibrillar, 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... OMIM:609200
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-... OMIM:615424
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12
Muscular dystrophy, Limb-girdle muscle weakness, Elevated circulating creatine kinase concentration OMIM:616094
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Elev... OMIM:613204
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Elevated circulating cre... OMIM:617232
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscl... ORPHA:2593
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... OMIM:608423
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Abnormal circulating creatine kinase concentration, T... OMIM:614807
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... OMIM:618655
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, ... OMIM:600334
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Mildly elevated creatine kinase, Myopathy, Weakness of facial... OMIM:617030
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Muscular dystrophy, Shoulder girdle muscle weakness, Elevated circulating creatine kinase concent... OMIM:611307
Inclusion Body Myopathy And Brain White Matter Abnormalities
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:619733
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Muscular dystrophy, Neck muscle weakness, Proximal muscle weakness, Elevated circulating creatine... OMIM:612998
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253601
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Proximal... OMIM:618848
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Muscular dystrophy, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, ... OMIM:613723
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:618129
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... OMIM:608358
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Muscular dystrophy, Lower limb muscle weakness, Elevated circulating creatine kinase concentratio... OMIM:253600
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Muscular Dystrophy, Congenital, With Rapid Progression
Muscular dystrophy OMIM:254100
Muscular Dystrophy, Hemizygous Lethal Type
Limb-girdle muscular dystrophy OMIM:309950
Myopathy, Distal, 3
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, Mildly ele... OMIM:610099
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Ankle flexion contracture, Muscular dystrophy, Elevated circulating creatine kinase concentration... OMIM:613818
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy, Mildly elevated creatine kinase, Distal muscle weakness OMIM:604454
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Eleva... OMIM:609115
Rippling Muscle Disease 1
Percussion-induced rapid rolling muscle contractions, Muscle mounding, Skeletal muscle hypertrophy OMIM:600332
Myopathy, Distal, Tateyama Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... OMIM:614321
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Shoulder girdle muscle atrophy, Muscular dystrophy, Pelvic girdle muscle atrophy, Elevated circul... OMIM:604286
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:612999
Myopathy, Distal, 7, Adult-Onset, X-Linked
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:301075
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Proximal lower limb am... OMIM:158600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Muscular dystrophy, Elevated circulating creatine kinase concentration, Proximal muscle weakness,... OMIM:601287
Nonaka Myopathy
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Elevated cir... OMIM:605820
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Percussio... ORPHA:34516
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Muscle fibe... OMIM:615422
Inclusion Body Myositis
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Myalgia, Inflammatory myopa... ORPHA:611
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:620246
Myotonia Congenita, Autosomal Dominant
Handgrip myotonia, Myotonia with warm-up phenomenon, Myotonia, Percussion myotonia, EMG: myotonic... OMIM:160800
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Distal Myopathy, Welander Type
Rimmed vacuoles, Mildly elevated creatine kinase, Distal upper limb amyotrophy, Foot dorsiflexor ... ORPHA:603
Dpm3-Cdg
Rimmed vacuoles, Muscular dystrophy, Dilated cardiomyopathy, Chest pain, Calf muscle hypertrophy,... ORPHA:263494
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Shoulder girdle muscle weakness, Reduced muscle fiber alpha dystroglycan, Abn... ORPHA:34515
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Gowers sign, Elevated circu... OMIM:603511
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4
Generalized muscle weakness, Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:613152
Nemaline Myopathy 6
Nemaline bodies, Exercise intolerance, Skeletal muscle atrophy, Limb muscle weakness, Myopathy, E... OMIM:609273
Myopathy, Autophagic Vacuolar, Infantile-Onset
Hypertrophic cardiomyopathy, Autophagic vacuoles, Myopathy, Elevated circulating creatine kinase ... OMIM:609500
Facioscapulohumeral Muscular Dystrophy 2, Digenic
Scapulohumeral muscular dystrophy, Foot dorsiflexor weakness, Facial palsy, Scapular winging, Pel... OMIM:158901
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Amyotrophic Lateral Sclerosis 20
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular... OMIM:619566
Myopathy, Myofibrillar, 2
Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower... OMIM:608810
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Cardiomyopathy, Elevated circulating creatine kinase concentration, Limb-gird... OMIM:609308
Myopathy, Centronuclear, 1
Centrally nucleated skeletal muscle fibers, External ophthalmoplegia, Proximal muscle weakness in... OMIM:160150
Muscular Dystrophy, Congenital, 1B
Sternocleidomastoid amyotrophy, Muscular dystrophy, Shoulder girdle muscle weakness, Elevated cir... OMIM:604801
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:617760
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:117000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy OMIM:618992
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ragged-red musc... ORPHA:457050
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617072
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Increa... OMIM:618940
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Limb-girdle muscular dystrophy, Limb muscle weakness, Arrhythmia, Muscular dystrophy, Left anteri... OMIM:181350
Hereditary Myopathy With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... ORPHA:178464
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Muscular dystrophy, Increased endomysial connective tissue, Elevated circulating creatine kinase ... OMIM:607855
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Muscular dystrophy, Skeletal muscle hypertrophy, Elevated circulating creatine kinase concentration OMIM:613158
Myasthenic Syndrome, Congenital, 14
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:616228
Myopathy, Distal, 4
Skeletal muscle atrophy, Cardiomyopathy, Thenar muscle weakness, Distal lower limb amyotrophy, Di... OMIM:614065
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscular dystrophy, Exercise intolerance, Cardiomyopathy, Elevated circulating creatine kinase co... OMIM:615352
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Elevated circulating creatine ... OMIM:616209
Multiminicore Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w... ORPHA:598
Myopathy, Scapulohumeroperoneal
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:616852
Mitochondrial Myopathy With Diabetes
Exercise intolerance, Weakness of orbicularis oculi muscle, Limb muscle weakness, Ragged-red musc... OMIM:500002
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Paramyotonia Congenita Of Von Eulenburg
Handgrip myotonia, Myotonia, Percussion myotonia, Myotonia of the face, Cold-sensitive myotonia, ... ORPHA:684
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti... OMIM:613157
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting, Eleva... OMIM:609524
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:611705
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Ankle flexion contracture, Muscular dystrophy, Lower limb muscle weakness, Scapular muscle atroph... ORPHA:267
Congenital Myopathy 3 With Rigid Spine
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:602771
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Angulated muscle fibers, Shoulder girdle muscle weakness, Neck muscle weakness, Weakness of facia... OMIM:619477
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Fiber type grouping, Distal amyotrophy, Mildly elevated creatine kinase, Distal muscle weakness OMIM:614369
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Skeletal muscle atrophy, Myotonia OMIM:254950
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... OMIM:620375
Myotonia Congenita, Autosomal Recessive
Myotonia with warm-up phenomenon, Myotonia, Percussion myotonia, EMG: myotonic runs, Muscle hyper... OMIM:255700
Muscular Dystrophy, Congenital, Lmna-Related
Muscular dystrophy, Failure to thrive, Upper limb muscle weakness, Elbow contracture, Muscle fibe... OMIM:613205
Muscular Dystrophy, Becker Type
Muscular dystrophy, Calf muscle pseudohypertrophy, Muscle weakness, Elevated circulating creatine... OMIM:300376
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Muscular dystrophy OMIM:254000
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ... OMIM:181400
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620138
Oculopharyngeal Muscular Dystrophy 1
Neck muscle weakness, Limb muscle weakness, Ragged-red muscle fibers, Elevated circulating creati... OMIM:164300
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Muscular dystrophy, Elevated circulating creatine kinase concentration, Proximal muscle weakness,... ORPHA:62
Myositis
Myositis, Proximal muscle weakness OMIM:160750
Muscular Dystrophy, Barnes Type
Muscular dystrophy, Myotonia, Myopathy OMIM:158800
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... ORPHA:399058
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... OMIM:620386
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Muscular dystrophy, Scapular muscle atrophy, Gowers sign, Elevated circulating creatine kinase co... OMIM:611588
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Neck... OMIM:614302
Focal Myositis
Myositis, Muscle weakness, Elevated circulating creatine kinase concentration ORPHA:48918
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Elevated circulating creatine k... ORPHA:565899
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Triangular tongue, Elevated ... OMIM:616827
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy
Muscular dystrophy, Muscle weakness OMIM:253590
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617066
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Dilated cardiomyo... OMIM:608099
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic reducing inclusion ... OMIM:300717
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Z-band streaming, Type 1 muscle fi... OMIM:618823
Bethlem Myopathy 1A
Ankle flexion contracture, Skeletal muscle atrophy, Camptodactyly of finger, Elbow flexion contra... OMIM:158810
Carnitine Deficiency, Myopathic
Decreased circulating carnitine concentration, Reduced muscle carnitine level, Myopathy OMIM:212160
Spinal Muscular Atrophy, Infantile, James Type
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ty... OMIM:619042
Myasthenic Syndrome, Congenital, 17
Type 1 muscle fiber predominance OMIM:616304
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Tall sta... ORPHA:1878
Distal Myopathy With Anterior Tibial Onset
Finger flexor weakness, Abnormal circulating creatine kinase concentration, Intrinsic hand muscle... ORPHA:178400
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:620402
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Proximal muscle weakness, Elevated circulating cr... OMIM:611615
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253700
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... OMIM:612937
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:309930
Inclusion Body Myositis
Rimmed vacuoles, Distal muscle weakness, Inflammatory myopathy, Proximal muscle weakness OMIM:147421
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:618484
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... OMIM:310440
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hypertr... OMIM:300696
Miyoshi Myopathy
Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Shoulder girdle muscle weakn... ORPHA:45448
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... ORPHA:486815
Immune-Mediated Necrotizing Myopathy
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Congestive heart failure, Palpi... ORPHA:206569
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Muscular dystrophy, Elbow flexion contracture, Increased LDL cholesterol concentration, Elevated ... OMIM:616516
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Myopathy, Elevated circulating creatine kinase co... OMIM:616471
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy, Elevated circulating creatine kinase concentration ORPHA:88635
Zebra Body Myopathy
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Handgrip myotonia, Myofibrillar... ORPHA:97240
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8
Distal amyotrophy, Proximal muscle weakness, Elevated circulating creatine kinase concentration, ... OMIM:618135
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Sinus tachycardia, Congestive... OMIM:255160
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform,... OMIM:302045
Congenital Muscular Dystrophy Without Intellectual Disability
Muscular dystrophy, Mildly elevated creatine kinase, Reduced muscle fiber alpha dystroglycan, Mya... ORPHA:370980
Danon Disease
Myocardial necrosis, Skeletal muscle autophagosome accumulation, Dilated cardiomyopathy, Generali... OMIM:300257
Rippling Muscle Disease 2
Percussion-induced rapid rolling muscle contractions, Muscle mounding, Calf muscle hypertrophy, S... OMIM:606072
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:616812
Adult-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Dilated cardiomyopathy, Upper li... ORPHA:171442
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Myalgia, Inflammatory myopathy, Myopathy, Elevated circulating creatine kinas... OMIM:123320
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Klhl9-Related Early-Onset Distal Myopathy
Ankle flexion contracture, Impaired vibration sensation in the lower limbs, Abnormal circulating ... ORPHA:399081
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... ORPHA:206549
Congenital Myopathy 4A, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Failure to thrive, Generalized muscle weakness, Proxi... OMIM:255310
Myopathy, Tubular Aggregate, 1
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Myopathy, Eleva... OMIM:160565
Paramyotonia Congenita
Handgrip myotonia, Percussion myotonia, Paradoxical myotonia, Skeletal muscle hypertrophy OMIM:168300
Oculopharyngeal Muscular Dystrophy
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Elevated circulating creatine kinase concent... ORPHA:270
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Exercise intolerance, Cardiomyopathy, Myopathy, Elevated circulating creatine kinase concentratio... OMIM:255100
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole... ORPHA:98855
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, Cardiomyopathy, Extremely elevated creatine kinase, Mild... ORPHA:171445
Brody Disease
Percussion myotonia, Flexion contracture, Myotonia, Skeletal muscle hypertrophy OMIM:601003
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Proximal muscle weakness in lower limbs, Finger flexor weakness, Hip flexor weakness, Cardiomyopa... ORPHA:63273
Distal Myopathy, Tateyama Type
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... ORPHA:488650
Myopathy, Distal, With Anterior Tibial Onset
Myopathy, Elevated circulating creatine kinase concentration OMIM:606768
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Joint contracture of the hand, Muscular dystrophy, Elbow flexion contracture, Elevated circulatin... OMIM:608840
Sandhoff Disease, Adult Form
Proximal muscle weakness in lower limbs, Spasticity, Upper limb muscle weakness, Fasciculations, ... ORPHA:309169
Congenital Disorder Of Glycosylation, Type Iid
Myopathy, Decreased muscle mass, Elevated circulating creatine kinase concentration OMIM:607091
Facioscapulohumeral Muscular Dystrophy 1
Shoulder girdle muscle atrophy, Scapulohumeral muscular dystrophy, External ophthalmoplegia, Skel... OMIM:158900
Myopathy, Myofibrillar, 6
Muscular dystrophy, Restrictive cardiomyopathy, Lower limb muscle weakness, Hypertrophic cardiomy... OMIM:612954
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Rimmed va... OMIM:619518
Myopathy, Distal, 1
Rimmed vacuoles, Toe extensor amyotrophy, Dilated cardiomyopathy, Tibialis anterior muscle atroph... OMIM:160500
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Increased serum pyruvate, Ragged-red muscle fibers, Myopathy OMIM:545000
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Shuffling gait, Myotonia, Upper limb muscle weakness, Lower limb muscle weakness, Loss of ambulat... ORPHA:209335
Myasthenic Syndrome, Congenital, 12
Ophthalmoparesis, Neck muscle weakness, Ragged-red muscle fibers, Fatigable weakness, Proximal mu... OMIM:610542
Congenital Myopathy 20
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:620310
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Lower Motor Neuron Syndrome With Late-Adult Onset
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... ORPHA:276435
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Limb-girdle muscular dystrophy, Muscular dystrophy, Abnormal circulating creatine kinase concentr... ORPHA:369840
Merrf
Ragged-red muscle fibers, Myopathy ORPHA:551
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole... ORPHA:98853
Mitochondrial Myopathy, Infantile, Transient
Decreased circulating carnitine concentration, Failure to thrive, Neck muscle weakness, Increased... OMIM:500009
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Broad-based gait, Increased endomysial connective... ORPHA:353
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Impaired vibratory sensation, Increased variability in muscle fiber diameter, So... OMIM:616924
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Ankle flexion contracture, Limb-girdle muscular dystrophy, Reduced muscle fiber alpha dystroglyca... ORPHA:280333
Myopathy, Centronuclear, 5
Centrally nucleated skeletal muscle fibers, Abnormal circulating creatine kinase concentration, H... OMIM:615959
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Skeletal muscle atrophy, Myotonia, Increased muscle glycogen content ORPHA:371
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Congenital contracture, Skeletal muscle atrophy, Myopathy, Talipes equinovarus, Arthrogryposis mu... OMIM:208100
Bethlem Muscular Dystrophy
Neck muscle weakness, Gowers sign, Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy... ORPHA:610
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Muscle f... OMIM:300718
Distal Myotilinopathy
Distal amyotrophy, Cardiomyopathy, Multiple joint contractures, Abnormal muscle fiber myotilin, E... ORPHA:98911
Myopathy, Centronuclear, 2
Centrally nucleated skeletal muscle fibers, Gowers sign, Intrauterine growth retardation, Proxima... OMIM:255200
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... OMIM:603689
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter... ORPHA:300751
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Muscular dystrophy, Elevated circulating creatine kinase concentration, Hypoglycosylation of alph... OMIM:615350
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Dilated cardiomyopathy, Increased endomysial connective tissue, Myopathy, Ele... OMIM:602541
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole... ORPHA:98863
Immunodeficiency 69
Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Hepatosplenome... OMIM:618963
Lipodystrophy, Familial Partial, Type 6
Muscular dystrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Abnormal circulating lip... OMIM:615980
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Rimmed vacuoles, Shoulder girdle muscle atrophy, Pelvic girdle muscle atrophy, Distal amyotrophy,... OMIM:167320
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Ophthalmoparesis, Muscle fiber atrophy, Type 1 mu... OMIM:618654
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Muscular dystrophy, Cardiomyopathy, Elevated circulating creatine kinase concentration, Calf musc... OMIM:613155
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Exercise intolerance, Gait ataxia, Myopathy, Fatigue, Increased muscle fatiguability, Ataxia OMIM:613077
Central Core Disease
Nemaline bodies, Abnormal circulating creatine kinase concentration, Type 1 muscle fiber predomin... ORPHA:597
Congenital Myopathy 14
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... OMIM:618414
Distal Nebulin Myopathy
Nemaline bodies, Ankle flexion contracture, Sternocleidomastoid amyotrophy, Slender build, Progre... ORPHA:399103
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Cardiomyopathy Associated With Myopathy And Sudden Death
Asymmetric septal hypertrophy, Myopathy OMIM:212130
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Ragged-red muscle fibers, Elevated circulating creatine kinase concentra... OMIM:617069
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Bilateral cryptorchidism, Muscle f... OMIM:619542
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... ORPHA:401768
Myopathy, Myofibrillar, 8
Centrally nucleated skeletal muscle fibers, Nemaline bodies, Tall stature, Neck muscle weakness, ... OMIM:617258
Myasthenic Syndrome, Congenital, 13
Fatigable weakness, Muscle fiber tubular inclusions, Proximal muscle weakness OMIM:614750
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Distal lower limb amyotrophy... ORPHA:482601
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Lower limb muscl... OMIM:620068
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:601493
Glycogen Storage Disease Xv
Type 1 muscle fiber predominance, T-wave inversion, Paroxysmal ventricular tachycardia, Scapular ... OMIM:613507
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial pal... OMIM:300580
Scapuloperoneal Myopathy, X-Linked Dominant
Forearm supination contracture, Skeletal muscle atrophy, Scapuloperoneal myopathy, Lower limb mus... OMIM:300695
Nathalie Syndrome
Skeletal muscle atrophy, Abnormal EKG OMIM:255990
Adenosine Monophosphate Deaminase Deficiency
Exercise-induced muscle fatigue, Myalgia, Limb muscle weakness, Exercise-induced myalgia ORPHA:45
Myotonia, Potassium-Aggravated
Handgrip myotonia, Skeletal muscle atrophy, Myotonia, Percussion myotonia, Skeletal muscle hypert... OMIM:608390
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5
Distal amyotrophy, Upper limb muscle weakness, Thenar muscle weakness, First dorsal interossei mu... OMIM:600794
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Skeletal ... OMIM:620542
Myopathy, Myofibrillar, 4
Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Elevated circulating creatin... OMIM:609452
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Myalgia, Foot d... OMIM:619216
Finnish Upper Limb-Onset Distal Myopathy
Rimmed vacuoles, Joint contracture of the hand, Mildly elevated creatine kinase, Intrinsic hand m... ORPHA:399086
Spinal Muscular Atrophy, Scapuloperoneal
Peroneal muscle atrophy, Scapular muscle atrophy, Spinal muscular atrophy OMIM:271220
Acetyl-Coa Carboxylase-Alpha Deficiency
Myopathy OMIM:613933
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers, Frog-leg... ORPHA:324581
X-Linked Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Pneumonia, Neonatal hypotonia, Weakness of facial mus... ORPHA:596
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Limb-girdle muscular dystrophy, Lower limb muscle weakness, Elevated circulating creatine kinase ... OMIM:616052
Moderate Multiminicore Disease With Hand Involvement
Distal upper limb muscle weakness, Type 1 muscle fiber predominance, Generalized muscle weakness,... ORPHA:178145
Classic Multiminicore Myopathy
Muscular dystrophy, Failure to thrive, Muscle fiber atrophy, Intermittent episodes of respiratory... ORPHA:324604
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract, Distal lower limb amyotrophy ORPHA:73245
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Shoulder girdle musc... OMIM:606612
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Peroneal muscle atrophy, Handgrip myotonia, Exercise intolerance, Myotonia, Camptodactyly of fing... ORPHA:324442
Spinal Muscular Atrophy, Jokela Type
Skeletal muscle atrophy, Fasciculations, Distal sensory impairment, Spinal muscular atrophy, Trem... OMIM:615048
Congenital Myopathy 6 With Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... OMIM:605637
Diaphragmatic Hernia 5, X-Linked
Congenital diaphragmatic hernia OMIM:306950
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:613869
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Muscular dystrophy, Generalized limb muscle atrophy, Elevated circulating creatine kinase concent... OMIM:615351
Congenital Multicore Myopathy With External Ophthalmoplegia
Increased variability in muscle fiber diameter, External ophthalmoplegia, Proximal muscle weaknes... ORPHA:98905
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:613151
Laing Early-Onset Distal Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Dilated card... ORPHA:59135
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Facial palsy, Flexion contrac... OMIM:616470
Charcot-Marie-Tooth Disease, Axonal, Type 2D
Distal amyotrophy, Upper limb muscle weakness, Thenar muscle weakness, First dorsal interossei mu... OMIM:601472
Childhood-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Exercise intolerance, Cardiomyop... ORPHA:171439
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Limb-girdle muscular dystrophy, Dilated cardiomyopathy, Reduced muscle fiber alpha dystroglycan, ... ORPHA:206559
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... OMIM:616313
Atrial Standstill
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... ORPHA:1344
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Hyperalaninemia, Skeletal muscle atrophy, Myopathy ORPHA:2597
Ullrich Congenital Muscular Dystrophy 1A
Increased variability in muscle fiber diameter, Muscular dystrophy, Failure to thrive, Slender bu... OMIM:254090
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Paraspinal muscle hypertrophy, Knee flexion contracture, Hip contracture, Scapular winging, Arthr... OMIM:602484
Marinesco-Sjogren Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Myopathy, E... OMIM:248800
Autosomal Dominant Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... ORPHA:169189
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Decreased circulating carnitine concentration, Increased muscle lipid content, Ragged-red muscle ... ORPHA:254864
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Cryptorchidism, Myopathy, Ventricular septal defect OMIM:616816
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Muscular dystrophy, Cryptorchidism, Elevated circulating creatine kinase concentration, Left vent... OMIM:613156
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Generalized muscle weakness, Progressive external ophthalmoplegia, Faci... OMIM:609283
Hypertrophia Musculorum Vera
Calf muscle hypertrophy OMIM:145800
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:606070
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef... OMIM:613697
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... OMIM:620452
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Muscular dystrophy OMIM:204730
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased variability in muscle fiber diameter, Hypermethioninemia, Cardiomyopat... OMIM:613752
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Proximal muscle weakness in lower limbs, Abnormal circulating selenium concentration, Obesity, Di... ORPHA:171706
Myopathy, Distal, Infantile-Onset
Calf muscle hypertrophy, Foot dorsiflexor weakness OMIM:160300
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Infantile axial hypotonia, Developmental cataract, Abnormal muscle fiber protein expression, Hypo... ORPHA:330054
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:618138
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6
Generalized limb muscle atrophy, Scapular winging, Proximal lower limb amyotrophy, Facial palsy, ... ORPHA:219
Muscle Hypertrophy
Skeletal muscle hypertrophy OMIM:614160
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... OMIM:226670
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Spasticity, Distal amyotrophy, Optic atrophy, Decreased nerve conduction velocity, Subc... OMIM:612674
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 5
Distal lower limb amyotrophy, Foot dorsiflexor weakness, Spinal muscular atrophy OMIM:614881
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Distal lower limb muscle weakness, Skeletal muscle atrophy OMIM:615025
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block ORPHA:871
Congenital Myopathy With Myasthenic-Like Onset
Minicore myopathy, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Scapu... ORPHA:424107
Mitochondrial Complex I Deficiency, Nuclear Type 25
Nemaline bodies, Myopathy OMIM:618246
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Type II diabetes mellitus, Myopathy ORPHA:2579
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Muscular dystrophy, Abnormality of the ovary ORPHA:1875
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy, Hypertriglyceridemia ORPHA:366
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:620265
Genetic Recurrent Myoglobinuria
Proximal muscle weakness in upper limbs, Elevated circulating hepatic transaminase concentration,... ORPHA:99845
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy OMIM:616314
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Cardiomyopathy, Myopathy, Elevated circulating cr... ORPHA:119
Congenital Muscular Dystrophy, Fukuyama Type
Muscular dystrophy, Dilated cardiomyopathy, Camptodactyly of finger, Myopathy, Hypoglycosylation ... ORPHA:272
Glycogen Storage Disease Ixd
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... OMIM:300559
Ataxia-Oculomotor Apraxia Type 4
Progressive distal muscular atrophy, Obesity, Muscular dystrophy, Distal lower limb muscle weakness ORPHA:459033
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cellulitis, Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Pancytopenia, Knee ... OMIM:604416
Spastic Paraplegia 77, Autosomal Recessive
Lower limb amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness OMIM:617046
Acetazolamide-Responsive Myotonia
Myotonia, Chest pain, Myalgia, Gait disturbance, Skeletal muscle hypertrophy ORPHA:99736
Isolated Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Cryptorchidism, Myopathy, Elevated circulating creatine kinase concent... ORPHA:408
Nemaline Myopathy 7
Minicore myopathy, Nemaline bodies, Shoulder girdle muscle weakness, Limb muscle weakness, Knee f... OMIM:610687
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Axial muscle weakness, Progressive external ophthalmoplegia, Respirator... ORPHA:663
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Increased serum pyruvate, Skeletal muscle atrophy ORPHA:238329
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ragged-red muscle fibers, Myopathy OMIM:618242
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis, Proximal muscle weakness, Elev... OMIM:617070
Myopathy Due To Myoadenylate Deaminase Deficiency
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased muscle fatiguability, Exercise-induc... OMIM:615511
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Elbow flexion contracture, Knee flexion contracture, Myopathy, Decreased... OMIM:310300
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Dna2-Related Mitochondrial Dna Deletion Syndrome
Myalgia, Multiple joint contractures, Myopathy, Limb-girdle muscle weakness, Elevated creatine ki... ORPHA:352470
Spermatogenic Failure 17
Male infertility OMIM:617214
Thomsen And Becker Disease
Myotonia ORPHA:614
Lethal Congenital Contracture Syndrome 4
Distal arthrogryposis, Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture OMIM:614915
Congenital Myopathy 4B, Autosomal Recessive
Shoulder girdle muscle atrophy, Nemaline bodies, Distal lower limb amyotrophy, Facial diplegia, D... OMIM:609284
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Spinocerebellar Ataxia 43
Distal amyotrophy, Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor, Ataxia OMIM:617018
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Myalgia, Elevated ci... OMIM:607155
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy OMIM:613076
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Clinodactyly, Myopathy, Aplasia of the middle phalanx of the hand, Brachy... OMIM:610140
Duane Anomaly-Myopathy-Scoliosis Syndrome
Myopathy ORPHA:50817
Congenital Myopathy 10B, Mild Variant
Increased variability in muscle fiber diameter, Neck muscle weakness, Limb muscle weakness, Type ... OMIM:620249
Myofibrillar Myopathy 10
Ankle flexion contracture, Postexertional symptom exacerbation, Elbow flexion contracture, Percus... OMIM:619040
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:612877
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Nemaline Myopathy 2
Increased variability in muscle fiber diameter, Slender build, Limb muscle weakness, Generalized ... OMIM:256030
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance... OMIM:605355
Myasthenic Syndrome, Congenital, 25, Presynaptic
Flexion contracture, Myopathy, Generalized amyotrophy OMIM:618323
Neuronopathy, Distal Hereditary Motor, X-Linked
Distal amyotrophy, Spinal muscular atrophy OMIM:300489
Spastic Paraplegia 38, Autosomal Dominant
Distal amyotrophy, Lower limb muscle weakness, Thenar muscle weakness, First dorsal interossei mu... OMIM:612335
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Weakne... OMIM:619790
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity, Abnormal pupil morphology, Skeletal muscle atrophy, Skeletal... ORPHA:101082
Congenital Myopathy 23
Nemaline bodies, Skeletal muscle atrophy, Generalized hypotonia, Hypotonia, Limb muscle weakness,... OMIM:609285
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Charcot-Marie-Tooth Disease, Axonal, Type 2U
Distal amyotrophy, Foot dorsiflexor weakness, Hand muscle atrophy, Hand muscle weakness OMIM:616280
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Exercise intolerance, Shoulder girdle muscle weakness, Myalgia, Myopathy, Patent foramen ovale, E... OMIM:615156
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso... OMIM:206200
Autosomal Recessive Progressive External Ophthalmoplegia
Exercise intolerance, Cardiomyopathy, Hand muscle weakness, Muscle fiber atrophy, Ragged-red musc... ORPHA:254886
Charcot-Marie-Tooth Disease, Axonal, Type 2Dd
Distal amyotrophy, Foot dorsiflexor weakness OMIM:618036
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Skeletal muscle atrophy, Tremor, Babinski sign, Ataxia, Flexion contracture OMIM:611105
Oculopharyngodistal Myopathy 3
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... OMIM:619473
Ullrich Congenital Muscular Dystrophy
Increased variability in muscle fiber diameter, Slender finger, Increased endomysial connective t... ORPHA:75840
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Muscular dystrophy OMIM:614830
Proximal Myotonic Myopathy
Myotonia ORPHA:606
Congenital Myasthenic Syndromes With Glycosylation Defect
Generalized weakness of limb muscles, Type 1 muscle fiber predominance, Ragged-red muscle fibers,... ORPHA:353327
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Exercise intolerance, Dilated cardiomyopathy, Ragged-red muscle fibers, Myopathy, Weakness of fac... ORPHA:352447
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Type 1 muscle fiber predominance, Limb muscle weakness, Myopathy, Type 2 m... OMIM:603034
Combined Oxidative Phosphorylation Deficiency 6
Increased serum pyruvate, Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:300816
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Congenital Myopathy 10A, Severe Variant
Increased variability in muscle fiber diameter, Failure to thrive, Camptodactyly of finger, Eleva... OMIM:614399
Autosomal Recessive Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Abnormal heart valve morphology, Facial diplegia, Typ... ORPHA:169186
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Leg muscle stiffness, Cardiomyopathy, Heart block, Foot ... ORPHA:98912
Glycogen Storage Disease Iii
Ventricular hypertrophy, Distal amyotrophy, Cardiomyopathy, Hyperlipidemia, Myopathy, Elevated ci... OMIM:232400
Myotonia Permanens
Myotonia, Generalized muscle hypertrophy, Chest pain, Myalgia, Gait disturbance, Skeletal muscle ... ORPHA:99735
Myotonia With Skeletal Abnormalities And Impaired Intellectual Development
Firm muscles, Myotonia, Skeletal muscle hypertrophy OMIM:255710
Rigid Spine Syndrome
Skeletal muscle atrophy, Elbow flexion contracture, Hamstring contractures, Hip contracture, Myop... ORPHA:97244
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... OMIM:613838
Nemaline Myopathy 8
Myofibrillar myopathy, Nemaline bodies, Flexion contracture, Facial palsy OMIM:615348
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Myopathy And Diabetes Mellitus
Sternocleidomastoid amyotrophy, Type I diabetes mellitus, Exercise intolerance, Weakness of orbic... ORPHA:2596
Glycogen Storage Disease X
Exercise intolerance, Rhabdomyolysis, Myopathy, Elevated circulating creatine kinase concentratio... OMIM:261670
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Marinesco-Sjögren Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... ORPHA:559
Digital Extensor Muscle Aplasia-Polyneuropathy
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... ORPHA:2926
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili... OMIM:616689
Spinal Muscular Atrophy, Facioscapulohumeral Type
Skeletal muscle atrophy, Spinal muscular atrophy OMIM:182970
Adult-Onset Distal Myopathy Due To Vcp Mutation
Rimmed vacuoles, Necrotizing myopathy, Mildly elevated creatine kinase, Myalgia, Facial diplegia,... ORPHA:329478
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Hereditary Continuous Muscle Fiber Activity
Spastic gait, Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Hypertrophic card... OMIM:617228
Congenital Muscular Dystrophy With Intellectual Disability
Abnormality of the tongue muscle, Reduced muscle fiber alpha dystroglycan, Multiple joint contrac... ORPHA:370968
Nemaline Myopathy 5C, Autosomal Dominant
Nemaline bodies, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weakness,... OMIM:620389
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Myopathy, Spinal muscular atrophy, Cryptorchidism, Elevated circulat... OMIM:301830
Combined Oxidative Phosphorylation Deficiency 49
Exercise intolerance, Myalgia, Ragged-red muscle fibers, Elevated circulating creatine kinase con... OMIM:619024
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Exercise intolerance, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Chest pain, Lower limb... ORPHA:1349
Lethal Congenital Contracture Syndrome 3
Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Multiple joint contractures OMIM:611369
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco... OMIM:113900
Hypokalemic Periodic Paralysis, Type 1
Myotonia, Myopathy OMIM:170400
Immunodeficiency 27A
Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Thrombocytosis, Ane... OMIM:209950
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Limb-girdle muscular dystrophy, Exercise-induced muscle fatigue, Difficulty walking, Chorea, Myal... ORPHA:369847
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Dilated cardiomyopathy, Interosseus muscle atrophy, Inguinal hernia, Dysmetria, Distal lower limb... OMIM:619903
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Spastic Paraplegia 42, Autosomal Dominant
Skeletal muscle atrophy OMIM:612539
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Quadriceps muscle weakness, Elbow flexion contracture, Abnormality of the... ORPHA:206546
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 1
Distal amyotrophy, Upper limb muscle weakness OMIM:182960
Muscular Atrophy, Malignant Neurogenic
Skeletal muscle atrophy OMIM:158650
Congenital Muscular Dystrophy With Cerebellar Involvement
Muscular dystrophy, Decreased thalamic volume, Cardiomyopathy, Reduced muscle fiber alpha dystrog... ORPHA:370959
Myotonia Fluctuans
Handgrip myotonia, Myotonia with warm-up phenomenon, Myotonia of the lower limb, Myotonia of the ... ORPHA:99734
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Limb muscle weakness, Myopathy, Type 2 muscle fiber atrophy OMIM:605809
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Fatigue, Myopathy ORPHA:154
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Mildly elevated creat... ORPHA:397744
Neuropathy, Ataxia, And Retinitis Pigmentosa
Myopathy OMIM:551500
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Myalgia, Myopathy, Hypothyroidism, Macroglossia, Skeletal muscle hypertrophy ORPHA:2349
Charcot-Marie-Tooth Disease, Axonal, Type 2W
Distal amyotrophy OMIM:616625
Amyotrophic Lateral Sclerosis Type 4
Skeletal muscle atrophy ORPHA:357043
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Idiopathic Camptocormia
Myelitis, Amyotrophic lateral sclerosis, Proximal spinal muscular atrophy, Abnormal muscle fiber ... ORPHA:1320
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy OMIM:192605
Richieri Costa-Da Silva Syndrome
Handgrip myotonia, Falls, Decreased muscle mass, Asymmetric limb muscle stiffness, Inability to w... ORPHA:3101
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Skeletal muscle atrophy, Myopathy, Elevated circulating creatine kinase concentration ORPHA:300179
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy, Myopathy ORPHA:1369
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Combined Oxidative Phosphorylation Deficiency 28
Abdominal pain, Increased serum pyruvate, Fatigue, Ragged-red muscle fibers OMIM:616794
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub... ORPHA:158048
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Congenital contracture, Elevated circulating creatine... OMIM:615368
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Skeletal muscle atrophy OMIM:158500
Spastic Paraplegia 73, Autosomal Dominant
Skeletal muscle atrophy OMIM:616282
Congenital Myopathy 24
Nemaline bodies, Cardiomyopathy, Abnormal circulating creatine kinase concentration, Type 1 muscl... OMIM:617336
Brugada Syndrome 1
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... OMIM:601144
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Muscular Dystrophy, Duchenne Type
Muscular dystrophy, Dilated cardiomyopathy, Cardiomyopathy, Hamstring contractures, Knee flexion ... OMIM:310200
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Giant Axonal Neuropathy 2, Autosomal Dominant
Distal amyotrophy, Cardiomyopathy OMIM:610100
Eosinophilic Fasciitis
Fasciitis, Myositis, Muscular edema, Weight loss, Arthritis ORPHA:3165
Papa Syndrome
Crohn's disease, Myositis, Increased inflammatory response, Pustule, Arthritis, Acne ORPHA:69126
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Ulnar claw, Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated ... OMIM:608340
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Left ventricular hypertrophy, Diabetes mellitus, Ragged-red muscle fibers, Myopathy OMIM:540000
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Exercise intolerance, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Myalgia, Ragged-red m... OMIM:615418
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Falls, Fatigue, Arthrogryposis multiplex congenita, Failure to thrive OMIM:616326
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome... OMIM:616860
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Upper limb muscle weakness, Decreased muscle glycogen content, Decreased muscle mass, Shoulder gi... ORPHA:263297
Mitochondrial Complex I Deficiency, Nuclear Type 14
Hypertrophic cardiomyopathy, Biventricular hypertrophy, Myopathy OMIM:618236
Autosomal Recessive Spastic Paraplegia Type 62
Skeletal muscle atrophy, Knee flexion contracture ORPHA:401785
Glycogen Storage Disease Due To Aldolase A Deficiency
Decreased muscle mass, Muscle fiber atrophy, Myalgia, Exercise-induced rhabdomyolysis, Skeletal m... ORPHA:57
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Foot dorsiflexor weakness, Triceps weakness, Intrinsi... OMIM:619574
Pure Mitochondrial Myopathy
Exercise intolerance, Quadriceps muscle weakness, Shoulder girdle muscle weakness, Exercise-induc... ORPHA:254854
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:613954
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Gait disturbance, Fatigue, Failure to thrive ORPHA:79283
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubin... OMIM:613673
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Distal lower limb muscle weakness, Leg muscle stiffness, Cardiomyopathy, Supraventricular arrhythmia ORPHA:320360
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Hyperammonemia, Ragged-red muscle fibers, Elevated circulating creatine kinase concentration, Rha... OMIM:618416
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Leber Hereditary Optic Neuropathy
Myopathy ORPHA:104
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Muscular dystrophy ORPHA:324416
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level, Hypertonia, Hemiplegia/hemiparesis, Myopathy ORPHA:2571
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Myopathy, Cardiomyopathy ORPHA:26792
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Multiple Myeloma
Osteopenia, Elevated circulating creatinine concentration, Splenomegaly, Weight loss, Anemia, Hyp... ORPHA:29073
Mitochondrial Complex I Deficiency, Nuclear Type 15
Hypertrophic cardiomyopathy, Flexion contracture, Myopathy OMIM:618237
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Lower limb amyotrophy, Claw hand deformity, Upper limb muscle weakness, Lower limb muscle weakness OMIM:618511
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:613153
Graft Versus Host Disease
Pneumonia, Inflammatory abnormality of the skin, Skeletal muscle atrophy, Elevated circulating he... ORPHA:39812
Myopathy, Tubular Aggregate, 2
Ankle flexion contracture, Neck muscle weakness, Foot dorsiflexor weakness, Hypocalcemia, Elevate... OMIM:615883
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Distal amyotrophy, Abnormal circulating creatine kinase concentration,... OMIM:617519
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Elevated circulating creatine kinase concentration, Babi... OMIM:160120
Congenital Myopathy 2A, Typical, Autosomal Dominant
Nemaline bodies, Dilated cardiomyopathy, Mildly elevated creatine kinase, Type 1 muscle fiber pre... OMIM:161800
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Cysticercosis
Somatic sensory dysfunction, Cerebral calcification, Abnormal skeletal muscle morphology, Increas... ORPHA:1560
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... ORPHA:90041
Autosomal Recessive Spastic Paraplegia Type 63
Skeletal muscle atrophy ORPHA:401805
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Sick Sinus Syndrome 2
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... OMIM:163800
Hemihyperplasia, Isolated
Skeletal muscle hypertrophy OMIM:235000
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Episodic flaccid weakness, Respiratory paralysis, Increased intramyocellula... ORPHA:681
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Congenital Disorder Of Glycosylation, Type Ie
Ankle flexion contracture, Muscular dystrophy, Optic atrophy, Elevated circulating hepatic transa... OMIM:608799
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle... ORPHA:352479
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Limb muscle weakness, Ragged-red muscle fibers, Facial diplegia, Elevated circulating creatine ki... OMIM:609560
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A... ORPHA:86841
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:615181
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:614096
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... ORPHA:1145
Intellectual Developmental Disorder With Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Myotonia, Chest pain, Myalgia, Myopathy, Gait disturbance, Flexion contr... ORPHA:682
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Distal amyotrophy, Fasciculations, Tremor, Spinal muscular atrophy, Proximal amyotrophy OMIM:182980
Kearns-Sayre Syndrome
Anterior hypopituitarism, Skeletal muscle atrophy, Ragged-red muscle fibers ORPHA:480
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Exercise intolerance, Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardio... OMIM:252011
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Myopathy, Myofibrillar, 7
Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance... OMIM:617114
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Myopathy ORPHA:91130
Hypophosphatasia, Childhood
Elevated plasma pyrophosphate, Myopathy, Bowing of the legs OMIM:241510
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Sweet Syndrome
Abnormal circulating interleukin concentration, Dilated cardiomyopathy, Increased circulating int... ORPHA:3243
Brugada Syndrome 2
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Nemaline bodies, Global systolic dysfunction, Limb muscle weakness, Cardiomyopathy OMIM:606842
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets OMIM:619065
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Fragmentation of the metacarpal epiphyses, Abnormality of the epiphyses of the feet, Postexertion... ORPHA:166002
Spastic Paraplegia 31, Autosomal Dominant
Distal amyotrophy, Skeletal muscle atrophy, Lower limb muscle weakness OMIM:610250
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Congenital Myopathy 22A, Classic
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620351
Mitochondrial Myopathy And Sideroblastic Anemia
Delayed puberty, Myopathy, Generalized limb muscle atrophy ORPHA:2598
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom... OMIM:611556
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Increased variability in muscle fiber diameter, Positive Romberg sign, Mitral regurgitation, Myop... OMIM:607459
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Pparg-Related Familial Partial Lipodystrophy
Secondary amenorrhea, Insulin-resistant diabetes mellitus, Hypertrophic cardiomyopathy, Myalgia, ... ORPHA:79083
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Distal amyotrophy, Distal lower limb amyotrophy, Distal upper limb amyotrophy, Foot dorsiflexor w... OMIM:619519
Antisynthetase Syndrome
Aortic regurgitation, Skin rash, Elevated circulating creatine kinase concentration, Myositis, Pu... ORPHA:81
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
Distal amyotrophy, Interosseus muscle atrophy, Spinal muscular atrophy, Distal lower limb muscle ... OMIM:607088
Refractory Celiac Disease
Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... ORPHA:398063
Uruguay Faciocardiomusculoskeletal Syndrome
Low-set ears, Ventricular hypertrophy, Joint contracture of the hand, Elevated circulating hepati... OMIM:300280
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Spastic Paraplegia 43, Autosomal Recessive
Ankle flexion contracture, Distal amyotrophy, Knee flexion contracture OMIM:615043
Malignant Hyperthermia, Susceptibility To, 2
Anesthetic-induced rhabdomylosis, Hyperphosphatemia, Alcohol-induced rhabdomyolysis, Exercise-ind... OMIM:154275
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Biventricular hypertrophy,... OMIM:619424
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Legg-Calvé-Perthes Disease
Skeletal muscle atrophy ORPHA:2380
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Elevated circulating cre... OMIM:151800
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... ORPHA:168796
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Increased endomysial connective tissue, Clinodactyly, Cryptorchidism, Flexion ... ORPHA:178148
Striatonigral Degeneration, Infantile, Mitochondrial
Poor motor coordination, Incoordination, Chorea, Myoclonus, Ragged-red muscle fibers, Babinski si... OMIM:500003
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... OMIM:617780
Adrenal Hypoplasia, Congenital
Precocious puberty, Muscular dystrophy, Absence of pubertal development, Adrenal insufficiency, P... OMIM:300200
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Mitochondrial Dna Depletion Syndrome 11
Exercise intolerance, Dilated cardiomyopathy, Ragged-red muscle fibers, Elevated circulating crea... OMIM:615084
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Myopathy OMIM:125250
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Dystonia, Ragged-red muscle fibers, Axial hypotonia OMIM:615159
Distal Anoctaminopathy
Proximal muscle weakness in upper limbs, Distal amyotrophy, Rhabdomyolysis, Distal lower limb mus... ORPHA:399096
Spastic Paraplegia 57, Autosomal Recessive
Lower limb amyotrophy, Hand muscle atrophy OMIM:615658
Dystonia 7, Torsion
Blepharospasm, Torticollis, Writer's cramp, Torsion dystonia, Oromandibular dystonia, Skeletal mu... OMIM:602124
Mitochondrial Myopathy, Lethal, Infantile
Myopathy OMIM:551000
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Malignant Hyperthermia, Susceptibility To, 3
Anesthetic-induced rhabdomylosis, Hyperphosphatemia, Alcohol-induced rhabdomyolysis, Exercise-ind... OMIM:154276
Congenital Myopathy 15
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Weakness of fac... OMIM:620161
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:613327
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Charcot-Marie-Tooth Disease, Type 4B1
Distal amyotrophy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials... OMIM:601382
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Ophthalmoparesis, Upper limb muscle weakness, Lower limb muscle weakness, Intermittent episodes o... OMIM:601462
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Unilateral cryptorchidism, Myopathy, Bilateral crypto... OMIM:300219
Spastic Paraplegia 63, Autosomal Recessive
Skeletal muscle atrophy OMIM:615686
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Cardiomyopathy, Absent muscle fiber merosin, Reduced left ventricular ejectio... ORPHA:258
Proteasome-Associated Autoinflammatory Syndrome 4
Myositis, Flexion contracture, Panniculitis, Skeletal muscle atrophy OMIM:619183
Sting-Associated Vasculopathy, Infantile-Onset
Skeletal muscle atrophy, Pustular rash, Malar rash, Skin rash, Myositis, Telangiectasia, Pustule,... OMIM:615934
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:613642
Amish Nemaline Myopathy
Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Proximal amyotro... ORPHA:98902
Episodic Ataxia Type 1
Tip-toe gait, Calf muscle hypertrophy, Myotonia, Choreoathetosis ORPHA:37612
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia OMIM:615008
Rheumatic Fever
Epistaxis, Abnormal heart valve morphology, Abnormal mitral valve morphology, Abnormal aortic val... ORPHA:3099
Periodic Fever, Familial, Autosomal Dominant
Erysipelas, Skin rash, Myositis, Conjunctival hyperemia, Oligoarthritis, Conjunctivitis, Maculopa... OMIM:142680
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Skeletal muscle atrophy, Myopathy ORPHA:157973
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Distal amyotrophy, Gait ataxia, Limb muscle weakness, Dysmetria, Distal sensory impairment, Foot ... OMIM:618387
Dysequilibrium Syndrome
Skeletal muscle atrophy ORPHA:1766
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Positive Romberg sign, Mitr... OMIM:258450
Nemaline Myopathy 10
Nemaline bodies, Congenital contracture, Skeletal muscle atrophy, Generalized muscle weakness, Op... OMIM:616165
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Elevated circulating acylcarnitine concentration, Exercise intolerance, ... ORPHA:228305
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Extremely elevated cre... ORPHA:99939
Heart-Hand Syndrome, Spanish Type
Sick sinus syndrome OMIM:140450
Familial Partial Lipodystrophy, Dunnigan Type
Hypertrophic cardiomyopathy, Myalgia, Myopathy, Polycystic ovaries, Dysmenorrhea, Hypertriglyceri... ORPHA:2348
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Congestive heart failure, Abnormal pericardium morphology, Hypertrophic cardiomyopath... ORPHA:183
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy, Skeletal muscle hypertrophy ORPHA:99014
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Patent foramen ovale, Sp... OMIM:616867
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:617960
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification ORPHA:3319
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Abnormal bone structure, Persistence of hemoglobin F ORPHA:46532
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Distal amyotrophy, Lower limb muscle weakness, Hand muscle weakness, Hand muscle atrophy, Weaknes... OMIM:607641
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Spastic Paraplegia 18B, Autosomal Recessive
Joint contracture, Skeletal muscle atrophy, Lower limb muscle weakness OMIM:611225
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Nemaline bodies, Flexion contracture, Myopathy, Cardiomyopathy OMIM:616549
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Myocarditis ORPHA:2724
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Distal amyotrophy, Lower limb muscle weakness, Fasciculations, Gait ataxia, Myoclonus... OMIM:607317
Bacterial Toxic-Shock Syndrome
Glomerulonephritis, Tachycardia, Recurrent skin infections, Shock, Elevated circulating creatinin... ORPHA:36234
Triose Phosphate-Isomerase Deficiency
Hypertrophic cardiomyopathy, Skeletal muscle atrophy ORPHA:868
Sengers Syndrome
Exercise intolerance, Hypertrophic cardiomyopathy, Myopathy, Fatigue, Premature ovarian insuffici... OMIM:212350
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Exercise-induced muscle fatigue, Rhabdomyolysis, Myopathy, Ataxia, Exercise-induced myalgia ORPHA:713
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Adducted Thumbs Syndrome
Arthrogryposis multiplex congenita, Myopathy OMIM:201550
Nemaline Myopathy 9
Nemaline bodies, Arthrogryposis multiplex congenita, Ventricular septal defect OMIM:615731
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619528
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Skeletal muscle atrophy, Failure to thrive, Inability to walk, Type 1 muscle fiber predominance, ... OMIM:618276
Facial Onset Sensory And Motor Neuronopathy
Skeletal muscle atrophy ORPHA:85162
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal amyotrophy, Elbow flexion contracture, Nonprogressive muscular atrophy, Distal lower limb ... OMIM:600175
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Ophthalmoparesis, Neck muscle weakness, Limb muscle weakness, Weakness of facial musculature, Gen... OMIM:608930
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Muscular dystrophy, Dilated third ventricle, Increased endomysial connective tissue, Elevated cir... OMIM:613154
Spinocerebellar Ataxia With Epilepsy
Gait ataxia, Myoclonus, Myopathy, Dysmetria, Tremor, Hyperalaninemia, Dystonia, Dysdiadochokinesi... ORPHA:254881
Cataract 2, Multiple Types
Microcornea, Nuclear cataract, Nuclear pulverulent cataract, Developmental cataract, Aculeiform c... OMIM:604307
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu... OMIM:614954
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Exercise intolerance, Skeletal muscle atrophy, Myalgia, Myopathy, Weakness of facial musculature,... ORPHA:254875
Myosclerosis, Autosomal Recessive
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Achilles tendon cont... OMIM:255600
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged... OMIM:614049
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... OMIM:224120
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Myotonic Dystrophy 2
Handgrip myotonia, Sternocleidomastoid amyotrophy, Myotonia, Myalgia, Weakness of facial musculat... OMIM:602668
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Myopathy OMIM:230450
Juvenile Dermatomyositis
Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Skin rash, Elevated... ORPHA:93672
Chanarin-Dorfman Syndrome
Myopathy, Subcapsular cataract OMIM:275630
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... OMIM:618920
Myopathic Ehlers-Danlos Syndrome
Increased variability in muscle fiber diameter, Joint contracture of the hand, Ankle flexion cont... ORPHA:536516
Spinal Muscular Atrophy With Impaired Intellectual Development
Spinal muscular atrophy OMIM:271109
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Proximal amyotrophy, Distal amyotrophy, Foot dorsiflexor weakness OMIM:616040
Autosomal Dominant Spastic Paraplegia Type 4
Distal amyotrophy, Leg muscle stiffness, Lower limb muscle weakness ORPHA:100985
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Congenital-Onset Steinert Myotonic Dystrophy
Myotonia, Obesity, Encopresis, Decreased body weight, Abnormal cardiac septum morphology, Facial ... ORPHA:589821
Spermatogenic Failure 63
Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Exercise intolerance, Cardiomyopathy, Hypogonadism, Abnormality of the thyroid gland, Limb muscle... OMIM:609286
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Decreased cervical spine flexion due to contractur... ORPHA:254361
Acquired Partial Lipodystrophy
Arthralgia, Myopathy ORPHA:79087
Autosomal Dominant Optic Atrophy Plus Syndrome
Cardiomyopathy, Myopathy, Fatigue, Limb-girdle muscle weakness, Diabetes mellitus ORPHA:1215
Duchenne Muscular Dystrophy
Skeletal muscle atrophy, Cardiomyopathy, Elevated circulating creatine kinase concentration, Calf... ORPHA:98896
Dimethylglycine Dehydrogenase Deficiency
Increased muscle fatiguability, Fish odor ORPHA:243343
Thrombocythemia 3
Thrombocytosis OMIM:614521
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Mitochondrial Complex I Deficiency, Nuclear Type 29
Exercise intolerance, Failure to thrive, Myalgia, Fatigue, Increased muscle fatiguability, Exerci... OMIM:618250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Increased variability in muscle fiber diameter, Muscular dystrophy, Elevated circulating creatine... OMIM:616538
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Myopathy OMIM:618234
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Cardiomyopathy, Elevated circula... ORPHA:52430
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... ORPHA:98870
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract OMIM:600886
Thrombocythemia 2
Thrombocytosis OMIM:601977
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Intermediate Nemaline Myopathy
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Flex... ORPHA:171433
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Ulnar claw, Nemaline bodies, Distal amyotrophy, Lower limb muscle weakness, Foot dorsiflexor weak... OMIM:607684
Hyperkalemic Periodic Paralysis
Myotonia OMIM:170500
Spinocerebellar Ataxia 18
Skeletal muscle atrophy, Limb muscle weakness, Dysmetria, Tremor, Progressive gait ataxia, Babins... OMIM:607458
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Distal lower limb amyotrophy, Skeletal muscle atrophy, Foot dorsiflexor weakness, Lower limb musc... OMIM:613287
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Hypokalemic Periodic Paralysis, Type 2
Myotonia OMIM:613345
Methylmalonic Acidemia With Homocystinuria
Gait disturbance, Fatigue, Failure to thrive ORPHA:26
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Proximal femoral epiphysiolysis, Metaphyseal sclerosis, Proximal femoral met... OMIM:260400
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility OMIM:618110
Rh-Null, Amorph Type
Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia OMIM:617970
Distal Hereditary Motor Neuropathy Type 5
Distal amyotrophy, Upper limb muscle weakness, Thenar muscle weakness, Distal lower limb muscle w... ORPHA:139536
Whipple Disease
Hypotension, Gastrointestinal hemorrhage, Uveitis, Infectious encephalitis, Myositis, Hyponatremi... ORPHA:3452
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Coombs-positive hemolytic anemia, Thrombocytosis, E... OMIM:614034
Autosomal Recessive Spastic Paraplegia Type 43
Ankle flexion contracture, Distal amyotrophy, Flexion contracture of finger, Knee flexion contrac... ORPHA:320370
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Typical Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Genu valgum, Facial diplegia, Fo... ORPHA:171436
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Azoospermia, Male infertility OMIM:619145
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Iron deficiency anemia, Thrombocytosis, Anemia, Hypoproteinemia OMIM:226300
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Lower limb muscle weakness, Spinal muscular atrophy, Triceps weakness, Weakness of the intrinsic ... OMIM:615575
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopa... OMIM:612158
Neutral Lipid Storage Myopathy
Rimmed vacuoles, Cardiomyopathy, Generalized limb muscle atrophy, Hand muscle weakness, Shoulder ... ORPHA:98908
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
X-Linked Charcot-Marie-Tooth Disease Type 6
Lower limb muscle weakness, Hand tremor, Impaired vibration sensation in the lower limbs, Distal ... ORPHA:352675
Myopathy With Lactic Acidosis, Hereditary
Increased variability in muscle fiber diameter, Exercise intolerance, Skeletal muscle atrophy, Rh... OMIM:255125
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Hyperammonemia, Myopathy, Elevated circulating creatine kinase concentra... ORPHA:42
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:615396
Spastic Paraplegia 62, Autosomal Recessive
Skeletal muscle atrophy OMIM:615681
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Mildly elevated creatine kinase, Distal amyotrophy, Foot dorsiflexor weakness, Elevated circulati... OMIM:618400
Gemignani Syndrome
Skeletal muscle atrophy ORPHA:2074
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter OMIM:617915
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract OMIM:611544
Autosomal Recessive Spastic Paraplegia Type 76
Skeletal muscle atrophy, Lower limb muscle weakness ORPHA:488594
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Autosomal Dominant Spastic Paraplegia Type 37
Lower limb muscle weakness, Difficulty walking, Impaired vibration sensation in the lower limbs, ... ORPHA:171612
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Ragged-red muscle fibers, Generalized muscle weakness, Progressive external ophtha... OMIM:613662
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Muscular dystrophy, Cardiomyopathy, Abnormal circulating hom... ORPHA:88618
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Carcinoid Syndrome
Increased serum serotonin, Abnormal circulating B-type natriuretic peptide concentration, Myopath... ORPHA:100093
Pyoderma Gangrenosum
Myositis, Inflammation of the large intestine, Rheumatoid arthritis, Pustule ORPHA:48104
Mcleod Syndrome
Elevated gamma-glutamyltransferase level, Dilated cardiomyopathy, Increased circulating lactate d... OMIM:300842
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio... OMIM:267700
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Nuclear cataract, Osteoarthritis of the elbow, Camptodactyly of finger, Camptodactyly of toe, Kne... ORPHA:2848
Cataract 1, Multiple Types
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract OMIM:116200
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Rat-Bite Fever
Sepsis, Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, Oligoarthri... ORPHA:31205
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Leg muscle stiffness, Impaired vibration sensation in the lower limbs, Limb a... ORPHA:251282
Spermatogenic Failure 32
Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Male infertility OMIM:619831
X-Linked Charcot-Marie-Tooth Disease Type 3
Proximal muscle weakness in lower limbs, Distal amyotrophy, Spastic paraparesis, Somatic sensory ... ORPHA:101077
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal spermatogenesis ORPHA:1646
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ankle flexion c... OMIM:616668
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Dilated cardiomyopathy, Abnormal atrioventricular conduc... ORPHA:732
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Cardiomyopathy, Congestive heart failure, Hypertro... OMIM:212140
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hypertrophic cardiomyopathy, Exercise intolerance, Ragged-red muscle fibers, Generalized amyotrophy OMIM:613561
Epiphyseal Dysplasia, Multiple, 2
Broad-based gait, Fatigue, Knee pain, Foot pain, Waddling gait OMIM:600204
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Exercise-induced muscle fatigue, Myalgia, Rhabdomyolysis ORPHA:2364
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy ORPHA:3283
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Elevated haptoglobin level, Abnormal circulating creatine kinase concentration, ... OMIM:620632
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Microcephalic sperm head, Reduced progressive sperm mo... OMIM:301101
8p23.1 deletion syndrome
Abnormal heart morphology, Atrioventricular canal defect, Congenital diaphragmatic hernia, Crypto... DECIPHER:39
Dimethylglycine Dehydrogenase Deficiency
Increased muscle fatiguability, Fish odor OMIM:605850
Combined Oxidative Phosphorylation Deficiency 20
Left ventricular noncompaction, Small for gestational age, Hypertrophic cardiomyopathy, Ataxia OMIM:615917
Familial Tumoral Calcinosis
Skin rash, Calcification of muscles ORPHA:53715
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Facial palsy, EM... OMIM:601419
Enterokinase Deficiency
Hypoproteinemia, Failure to thrive OMIM:226200
Combined Oxidative Phosphorylation Deficiency 24
Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Elevated circulating creatine kinase... OMIM:616239
Autosomal Spastic Paraplegia Type 30
Distal amyotrophy, Leg muscle stiffness ORPHA:101010
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Elevated circulating creatin... OMIM:253800
Spinal Muscular Atrophy, Type I
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Ventricular septal defect, Prox... OMIM:253300
Cap Myopathy
Increased variability in muscle fiber diameter, Sinus tachycardia, Lower limb muscle weakness, Mi... ORPHA:171881
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Foot dorsiflexor weakness, Distal amyotrophy, Upper limb muscle weakness OMIM:302801
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Craniosynostosis, Obesity ORPHA:88643
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Muscular dystrophy, Flexion contracture, Elevated circulating creatine kinase concentration OMIM:615249
Congenital Myopathy 16
Flexion contracture, EMG: myopathic abnormalities, Scapular winging OMIM:618524
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Distal amyotrophy, Foot dorsiflexor weakness OMIM:607731
Long Qt Syndrome 10
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... OMIM:611819
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Reduced haptoglobin leve... ORPHA:71275
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Congenital contracture, Eleva... OMIM:613150
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Nephritis, Increased circulating lactate dehydrogenase concentration, Malar r... ORPHA:93552
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Elevated circulating acylcarnitine concentration, Exercise intolerance, Muscle fiber atrophy, Mya... ORPHA:228302
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Skeletal muscle atrophy, Decreased muscle mass, Generalized hypotonia, Hypotonia, Type 2 muscle f... OMIM:608931
Spastic Paraplegia 70, Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture OMIM:620323
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Skin rash, Myositis, Gastritis, Pulmonary arterial hypertension, Ker... ORPHA:809
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Distal amyotrophy, Claw hand deformity, Foot dorsiflexor weakness, Spinal muscular atrophy OMIM:605726
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Failure to thrive, Increased circulating ferr... OMIM:616050
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Distal amyotrophy, Upper limb muscle weakness OMIM:607677
Amyotrophic Lateral Sclerosis 27, Juvenile
Tip-toe gait, Lower limb muscle weakness, Angulated muscle fibers, Quadriceps muscle atrophy, Int... OMIM:620285
Glycogen Storage Disease Vii
Increased variability in muscle fiber diameter, Cholelithiasis, Exercise intolerance, Increased t... OMIM:232800
Mantle Cell Lymphoma
Weight loss, Fatigue ORPHA:52416
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Myofiber disarray, M... OMIM:604377
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:615373
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Splenomegaly, Increased serum bile... OMIM:619868
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter OMIM:617235
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency
Facial palsy, Increased muscle fatiguability, Weakness of facial musculature OMIM:616323
Spinal Muscular Atrophy, Type Iii
Shoulder girdle muscle atrophy, Distal amyotrophy, Lower limb muscle weakness, Shoulder girdle mu... OMIM:253400
Macrophagic Myofasciitis
Arthralgia, Myalgia, Fatigue ORPHA:592
Adiposis Dolorosa
Painful subcutaneous lipomas, Chronic pain, Obesity, Arthralgia, Fatigue OMIM:103200
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... ORPHA:75566
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bradycardia, Atrial fibrillation... OMIM:616201
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated circulating hepatic transaminase concentration, Skin rash, Splenomegaly, Increased circu... OMIM:617591
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Corticosteroid-Binding Globulin Deficiency
Asthenia, Fatigue, Increased muscle fatiguability OMIM:611489
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Distal amyotrophy OMIM:608673
Glutamate-Cysteine Ligase Deficiency
Myopathy ORPHA:33574
Combined Oxidative Phosphorylation Deficiency 33
Exercise intolerance, Cardiomyopathy, Myopathy, Elevated circulating creatine kinase concentratio... OMIM:617713
Aniridia 1
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular... OMIM:106210
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Angina pectoris, Atrial ... OMIM:115195
Left Ventricular Noncompaction 1
Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop... OMIM:604169
Spastic Paraplegia 79B, Autosomal Recessive
Myotonia, Dysmetria, Loss of ambulation, Ataxia, Flexion contracture OMIM:615491
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypo... ORPHA:2238
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval OMIM:220400
Spastic Paraplegia 64, Autosomal Recessive
Skeletal muscle atrophy OMIM:615683
Lethal Congenital Contracture Syndrome 9
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint... OMIM:616503
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Cardiomyocyte mitochondrial proliferation, Hypertrophic cardiomyopathy OMIM:616500
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers, Pain ORPHA:477774
Ruijs-Aalfs Syndrome
Elbow flexion contracture, Cataract, Posterior subcapsular cataract, Skeletal muscle atrophy OMIM:616200
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia OMIM:152800
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Increased variability in muscle fiber diameter, Generalized amyotrophy, Secundum atrial septal de... OMIM:616866
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased variability in muscle fiber diameter, Increased circulating prolactin concentration, Mi... ORPHA:502423
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... ORPHA:45452
Spinocerebellar Ataxia 28
Spasticity, Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Ragged-red muscle fibers, Babi... OMIM:610246
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Foot dorsiflexor weakness, Distal amyotrophy, Upper limb muscle weakness OMIM:607678
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Anemia, Hyperlipidemia OMIM:603278
Postsynaptic Congenital Myasthenic Syndromes
Ophthalmoparesis, Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoul... ORPHA:98913
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... ORPHA:3202
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Foot dorsiflexor weakness, Talipes equ... OMIM:620011
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia ORPHA:1116
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Microcephaly, Seizures, And Developmental Delay
Skeletal muscle atrophy OMIM:613402
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Skeletal muscle atrophy, Foot dorsiflexor weakness, Elevated circulating creatine kinase concentr... OMIM:137200
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Y-shaped metatarsals, Abn... OMIM:175700
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Spasticity, Tetraparesis, Gait ataxia, Limb dystonia, Myopathy, Myoclonu... ORPHA:363400
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left v... OMIM:608751
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... ORPHA:37042
Spastic Paraplegia 17, Autosomal Dominant
Spastic paraplegia, Distal amyotrophy, Lower limb muscle weakness, Thenar muscle weakness, Impair... OMIM:270685
Immunodeficiency 32B
Hypoalbuminemia, Failure to thrive, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocyt... OMIM:226990
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Muscle fiber atrophy, Flexion contracture, Elevated circulating creatine kinase concentration OMIM:620240
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Nemaline bodies, Umbilical hernia, Percussion myotonia, Elbow contracture, Inguinal hernia OMIM:620275
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy, Sudden cardiac... OMIM:115210
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Vasculitis, Uveitis, Erysipelas, Fasciitis, Skin rash, Orchitis, Myositis, Peritonitis, Abnormal ... ORPHA:32960
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... OMIM:613980
Phosphoglycerate Kinase 1 Deficiency
Exercise intolerance, Rhabdomyolysis, Myopathy OMIM:300653
Combined Oxidative Phosphorylation Defect Type 13
Ankle flexion contracture, Generalized hypotonia, Decreased nerve conduction velocity, Type 1 mus... ORPHA:319514
Becker Muscular Dystrophy
Exercise intolerance, Falls, Skeletal muscle atrophy, Tip-toe gait, Difficulty walking, Myalgia, ... ORPHA:98895
Legionnaires Disease
Hypotension, Sepsis, Hepatitis, Infectious encephalitis, Arrhythmia, Pancreatitis, Recurrent phar... ORPHA:549
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Distal amyotrophy, Vocal cord paralysis, Tremor OMIM:158580
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Lipodystrophy, Familial Partial, Type 4
Oligomenorrhea, Hypertension, Hypertriglyceridemia, Skeletal muscle hypertrophy OMIM:613877
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Pontiac Fever
Myalgia, Fatigue ORPHA:99748
Spastic Paraplegia Type 7
Upper limb muscle weakness, Lower limb muscle weakness, Lower limb pain, Ragged-red muscle fibers... ORPHA:99013
Omenn Syndrome
Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia... OMIM:603554
Ménétrier Disease
Hypoalbuminemia, Weight loss, Hypoproteinemia, Hypochromic microcytic anemia ORPHA:2494
Immunodeficiency 43
Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le... OMIM:241600
Dpm1-Cdg
Muscular dystrophy, Sandal gap, Long hallux, Knee flexion contracture, Elevated circulating creat... ORPHA:79322
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Increased variability in muscle fiber diameter, Arthrogryposis multiplex congeni... OMIM:619334
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Hematochezia, Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Eczemat... OMIM:620565
Myasthenia Gravis
Ophthalmoparesis, Rheumatoid arthritis, Hepatitis, Myositis, Bulbar palsy, Hashimoto thyroiditis,... ORPHA:589
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Transient hyperphenylalaninemia, Postural tremor, Gai... OMIM:128230
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Progressive distal muscular atrophy, Tongue fasciculations, Skeletal muscle atrophy, Myoclonus, S... OMIM:159950
Autosomal Dominant Optic Atrophy, Classic Form
Skeletal muscle atrophy, Hypogonadism, Myalgia, Myopathy, Weakness of facial musculature, Hypothy... ORPHA:98673
Arthrogryposis And Ectodermal Dysplasia
Joint contracture of the hand, Nuclear cataract, Skeletal muscle atrophy, Camptodactyly, Arthrogr... OMIM:601701
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Spasticity, Distal amyotrophy, Limb muscle weakness, Foot dorsiflexor weakness, Distal sensory im... OMIM:609260
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... OMIM:611528
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Abnormal circula... ORPHA:86839
Schwartz-Jampel Syndrome, Type 1
Joint contracture of the hand, Skeletal muscle atrophy, Quadriceps muscle weakness, Shoulder flex... OMIM:255800
Axial Osteomalacia
Myopathy, Elevated circulating creatine kinase concentration OMIM:109130
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Myasthenic Syndrome, Congenital, 6, Presynaptic
Ophthalmoparesis, Fatigable weakness, Bulbar palsy, Type 2 muscle fiber atrophy, Respiratory insu... OMIM:254210
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased total bilirubin, Increased circul... OMIM:603553
Extensor Tendons Of Finger Anomalies
Skeletal muscle atrophy, Camptodactyly of finger ORPHA:3294
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy, Sudden cardiac death OMIM:115196
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Abnormal hypothalamus morphology, Abnormality of the adrenal glands, Facial ... ORPHA:68
American Trypanosomiasis
Cardiomyopathy, Congestive heart failure, Skin rash, Infectious encephalitis, Arrhythmia, Myocard... ORPHA:3386
Xp21 Deletion Syndrome
Finger clinodactyly, Decreased muscle mass, Adrenal insufficiency, Primary adrenal insufficiency,... ORPHA:261476
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Decreased compound muscle action potential amplitude, Distal lower limb muscle weakness, Small th... OMIM:620080
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Distal amyotrophy OMIM:605589
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Multiple joint contractures, Tremor, Ankle clonus, Dystonia, Babinski sign, Parkinson... ORPHA:521406
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Decreased circulating c... ORPHA:99901
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Spinal Muscular Atrophy, Segmental
Segmental spinal muscular atrophy, Hand muscle atrophy OMIM:183020
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Increased variability in muscle fiber diameter, Ankle flexion contracture, Elbow flexion contract... OMIM:619461
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Distal amyotrophy, Mildly elevated creatine kinase OMIM:615376
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Distal amyotrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babi... OMIM:611302
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Arrhythmia, Skeletal muscle atrophy, Hand muscle atrophy ORPHA:99944
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Increased variability in muscle fiber diameter, Exercise intolerance, Skeletal muscle atrophy, Se... OMIM:157640
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy, Increased circulating prolacti... OMIM:617675
Autosomal Dominant Optic Atrophy And Cataract
Cataract, Posterior subcapsular cataract, Optic atrophy, Cerulean cataract, Anterior cortical cat... ORPHA:67036
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Myalgia, Hyperammonemia... OMIM:609015
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract OMIM:600881
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Distal amyotrophy, Foot dorsiflexor weakness, Spinal muscular atrophy ORPHA:496756
Aicardi-Goutières Syndrome
Low-set ears, Elevated circulating hepatic transaminase concentration, Increased circulating inte... ORPHA:51
Congenital Generalized Lipodystrophy
Congestive heart failure, Hypertrophic cardiomyopathy, Hypertriglyceridemia, Amenorrhea, Hypercho... ORPHA:528
Essential Thrombocythemia
Acute leukemia, Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Abnormal platelet morpho... ORPHA:3318
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Broad-based gait, Exercise intolerance, Skeletal muscle atrophy, Lower limb muscle weakness, Diff... OMIM:616479
Leishmaniasis
Hypoalbuminemia, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Weight l... ORPHA:507
Vocal Cord And Pharyngeal Distal Myopathy
Rimmed vacuoles, Ankle weakness, Shoulder girdle muscle weakness, Distal upper limb amyotrophy, A... ORPHA:600
Genetic Hyperferritinemia Without Iron Overload
Arthralgia, Fatigue ORPHA:254704
Rhizomelic Chondrodysplasia Punctata, Type 2
Cataract, Generalized hypotonia, Hypotonia, Hip contracture, Zonular cataract, Flexion contractur... OMIM:222765
Spastic Paraplegia 45, Autosomal Recessive
Flexion contracture, Skeletal muscle atrophy OMIM:613162
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Lower limb hypertonia, Abnormal EKG, Lower limb muscle weakness, Generalized amyotrophy ORPHA:1177
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Dilated cardiomyopathy, Skeletal muscle atrophy, Abnormal cardiomyocyte morpholo... ORPHA:367
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Muscle-Eye-Brain Disease
Myopathy, Elevated circulating creatine kinase concentration ORPHA:588
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Lower limb muscle weakness, Impaired vibration sensation in the lower limbs, ... OMIM:600363
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Atrial fibrillation, Sudd... OMIM:607554
Systemic Capillary Leak Syndrome
Hypotension, Arrhythmia, Pancreatitis, Myocarditis, Pericarditis ORPHA:188
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Distal amyotrophy, Upper limb muscle weakness, Hand muscle weakness OMIM:608323
Walker-Warburg Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... ORPHA:899
Erythroderma, Lethal Congenital
Hypoalbuminemia, Failure to thrive OMIM:227090
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Erythroderma, M... ORPHA:139402
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Parkinsonism-Dystonia 2, Infantile-Onset
Shuffling gait, Fatigue, Ataxia, Hypomimic face, Dysdiadochokinesis OMIM:618049
Caribbean Parkinsonism
Myoclonus, Action tremor, Rigidity, Dystonia, Progressive gait ataxia, Parkinsonism, Apraxia, Wea... ORPHA:97355
Congenital Myopathy 21 With Early Respiratory Failure
Hypertrophic cardiomyopathy, EMG: myopathic abnormalities, Elevated circulating creatine kinase c... OMIM:620326
Scapuloperoneal Spinal Muscular Atrophy
Progressive distal muscular atrophy, Peroneal muscle atrophy, Small hand, Clinodactyly, Scapular ... OMIM:181405
Coenzyme Q10 Deficiency, Primary, 9
Type 2 muscle fiber predominance, Myoclonus, Tremor, Dysmetria, Lower limb spasticity, Ataxia OMIM:619028
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Abnormal atrioventricular conduction, Skeletal muscle atrophy, Cardiomyopathy, Limb muscle weakne... ORPHA:329336
Satoyoshi Syndrome
Mildly elevated creatine kinase, Genu valgum, Amenorrhea, Osteolytic defects of the phalanges of ... OMIM:600705
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:85329
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Distal amyotrophy, Tremor, Ataxia OMIM:619099
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Primary Triglyceride Deposit Cardiomyovasculopathy
Rimmed vacuoles, Precordial pain, Coronary artery stenosis, Cardiomyopathy, Abnormal cardiomyocyt... ORPHA:565612
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Lower limb amyotrophy, Foot dorsiflexor weakness, Upper limb amyotrophy OMIM:617087
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Upper limb muscle weakness, Somatic sensory dysfunction, Lower limb muscle weakness, Limb fascicu... ORPHA:90117
Hereditary Motor And Sensory Neuropathy V
Distal amyotrophy, Limb muscle weakness, Foot dorsiflexor weakness OMIM:600361
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Distal lower limb amyotrophy, Distal upper limb amyotrophy, Tremor, Ataxia ORPHA:101075
Long Qt Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... OMIM:192500
Behçet Disease
Mitral regurgitation, Endocarditis, Aortic regurgitation, Vasculitis, Gastrointestinal hemorrhage... ORPHA:117
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Scleromyxedema
Abnormality of central nervous system electrophysiology, Paraproteinemia, Transient ischemic atta... ORPHA:167635
Cardiomyopathy, Familial Hypertrophic, 4
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventr... OMIM:115197
Fusariosis
Pneumonia, Keratitis, Fasciitis, Osteomyelitis, Maculopapular exanthema, Myositis, Peritonitis, A... ORPHA:228119
Diarrhea 13
Hypoalbuminemia, Failure to thrive OMIM:620357
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ... OMIM:616959
Spinal Muscular Atrophy, Ryukyuan Type
Proximal amyotrophy, Spinal muscular atrophy OMIM:271200
Isolated Succinate-Coq Reductase Deficiency
Distal amyotrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Knee flexion contracture... ORPHA:3208
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Myoclonus, Abnormality of the Achilles ten... ORPHA:98763
Mitochondrial Complex I Deficiency, Nuclear Type 23
Skeletal muscle atrophy OMIM:618244
Distal 7Q11.23 Microduplication Syndrome
Hypotonia, Congenital diaphragmatic hernia ORPHA:261102
Pontocerebellar Hypoplasia, Type 1C
Joint contracture, Skeletal muscle atrophy, Spinal muscular atrophy OMIM:616081
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Shuffling gait, Leg muscle stiffness, Inability to walk, Akinesia, ... ORPHA:391411
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia OMIM:615863
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Oculogastrointestinal Muscular Dystrophy
Myopathy, Skeletal muscle atrophy, Abnormal mitral valve morphology ORPHA:1876
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a... OMIM:617021
Scrub Typhus
Hypotension, Skin rash, Infectious encephalitis, Myocarditis, Anterior uveitis ORPHA:83317
Glycogen Storage Disease Xii
Increased variability in muscle fiber diameter, Cholelithiasis, Hyperbilirubinemia, Myopathy, Red... OMIM:611881
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... OMIM:615248
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Hypomimic face, Brady... OMIM:300911
Erythrocyte Lactate Transporter Defect
Exercise-induced muscle fatigue OMIM:245340
Charcot-Marie-Tooth Disease Type 1A
Spontaneous pain sensation, Skeletal muscle atrophy, Decreased motor nerve conduction velocity, P... ORPHA:101081
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Generalized amyotrophy ORPHA:2589
Spastic Paraplegia With Neuropathy And Poikiloderma
Distal amyotrophy OMIM:182815
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Failure to thrive in infancy, Microcytic anemia OMIM:618805
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Distal amyotrophy ORPHA:639
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Spinocerebellar Ataxia, Autosomal Recessive 13
Inability to walk, Gait ataxia, Dysmetria, Fatigue, Ataxia, Dysdiadochokinesis OMIM:614831
Shox-Related Short Stature
Short neck, Skeletal muscle hypertrophy ORPHA:314795
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Flexion contracture OMIM:619026
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Congenital Enterovirus Infection
Hypotension, Sepsis, Hepatitis, Cardiomyopathy, Skin rash, Infectious encephalitis, Myocarditis, ... ORPHA:292
Cardiomyopathy, Familial Hypertrophic, 25
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m... ORPHA:90362
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle... ORPHA:1143
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
D-2-Hydroxyglutaric Aciduria 2
D-2-hydroxyglutaric acidemia, Cardiomyopathy OMIM:613657
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Limb ataxia, Limb muscle weakness, Gait ataxia, Myalgia, Cardiomegaly, Gait distu... OMIM:619259
Optic Atrophy 11
Increased variability in muscle fiber diameter, Optic atrophy, Hearing impairment, EEG with focal... OMIM:617302
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
Charcot-Marie-Tooth Disease, Type 4D
Distal amyotrophy, Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve condu... OMIM:601455
Overlap Myositis
Proximal muscle weakness in upper limbs, Finger swelling, Perifascicular muscle fiber atrophy, Ab... ORPHA:206572
Spinal Muscular Atrophy, Type Ii
Skeletal muscle atrophy, Spinal muscular atrophy OMIM:253550
Dermatomyositis
Arrhythmia, Vasculitis, Increased circulating lactate dehydrogenase concentration, Heliotrope ras... ORPHA:221
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Impaired platelet aggregation, Elliptocytosis, Macrocytic anemi... OMIM:300835
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S... ORPHA:86816
Wilson Disease
Sunflower cataract, Kayser-Fleischer ring, Decreased nerve conduction velocity, Limb muscle weakn... OMIM:277900
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Hypogonadism, Splenomegaly, Hepatomegaly, Joint contracture, Multifocal epileptif... OMIM:608540
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Beta-Thalassemia
Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia, Abnormality of ir... ORPHA:848
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Exercise intolerance, Generalized limb muscle atrophy, Hypopituitarism, Increased circulating fer... OMIM:600462
Neuropathy, Congenital Hypomyelinating, 2
Distal amyotrophy, Facial diplegia, Skeletal muscle atrophy OMIM:618184
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy... ORPHA:156
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Anisocytos... OMIM:301310
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Distal amyotrophy, Limb muscle weakness, Foot dorsiflexor weakness, Facial palsy OMIM:118210
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Celiac Disease, Susceptibility To, 1
Rickets, Failure to thrive, Hypocalcemia, Macrocytic anemia, Iron deficiency anemia, Enamel hypop... OMIM:212750
Adrenomyodystrophy
Primary adrenal insufficiency, Myopathy ORPHA:977
Dystonia 11, Myoclonic
Tremor, Myoclonus, Torticollis, Writer's cramp OMIM:159900
Multiple Acyl-Coa Dehydrogenase Deficiency
Exercise intolerance, Skeletal muscle atrophy, Exercise-induced muscle fatigue, Inability to walk... ORPHA:26791
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Hypotonia, Myopathy, Weakness of facial musculature, Sutural cataract, Flexion contracture OMIM:201470
Retinitis Pigmentosa 56
Optic disc pallor, Posterior subcapsular cataract, Nuclear cataract OMIM:613581
Charcot-Marie-Tooth Disease Type 1F
Proximal muscle weakness in lower limbs, Positive Romberg sign, Hand muscle atrophy, Sensorineura... ORPHA:101085
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Hypotonia-Cystinuria Syndrome
Decreased response to growth hormone stimulation test, Ragged-red muscle fibers, Hypocalcemia, Fa... OMIM:606407
Glycogen Storage Disease Xi
Exercise intolerance, Myalgia, Rhabdomyolysis, Elevated circulating creatine kinase concentration... OMIM:612933
Cystinosis
Type I diabetes mellitus, Myopathy, Hypokalemia, Hypothyroidism, Delayed puberty, Nephrogenic dia... ORPHA:213
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ... OMIM:620278
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased adiponectin level, Decreased HDL cholesterol concentration, Hypertrophic cardiomyopathy... ORPHA:280365
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Impaired pain sensation, Tremor, Ataxia ORPHA:101078
Undifferentiated Pleomorphic Sarcoma
Weight loss, Fatigue ORPHA:2023
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Microsporidiosis
Pneumonia, Nephritis, Lymphadenitis, Hepatitis, Keratitis, Osteomyelitis, Infectious encephalitis... ORPHA:2552
Refsum Disease, Classic
Somatic sensory dysfunction, Cardiomyopathy, Congestive heart failure, Elevated circulating phyta... OMIM:266500
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Ragged-red muscle fibers,... ORPHA:70595
Thymoma
Rheumatoid arthritis, Myositis, Glomerulonephritis, Decreased circulating antibody level, Ulcerat... ORPHA:99867
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Exercise intolerance, Cardiomyopathy, Decreased... ORPHA:157
Myasthenic Syndrome, Congenital, 10
Proximal amyotrophy, Mildly elevated creatine kinase, Distal amyotrophy, Weakness of facial muscu... OMIM:254300
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Small pituitary gland, Skeletal muscle atrophy, Central adrenal insufficiency, Hypogonadotropic h... OMIM:612079
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Limb muscle weakness, Elevated circulating creatine kinase concentration, Ca... OMIM:313200
Neutral Lipid Storage Disease With Myopathy
Exercise intolerance, Cardiomyopathy, Myalgia, Increased muscle lipid content, Myopathy, Elevated... OMIM:610717
Carnitine-Acylcarnitine Translocase Deficiency
Reduced tissue carnitine-acylcarnitine translocase activity, Ventricular hypertrophy, Hypotension... OMIM:212138
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Joint contracture of the hand, Distal amyotrophy, Scapuloperoneal amyotrophy, Spinal muscular atr... OMIM:611067
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Exercise intolerance, Skeletal muscle atrophy, Postexertional symptom exacerbation, Hypertrophic ... ORPHA:368
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... ORPHA:101016
Mevalonic Aciduria
Cataract, Nuclear cataract, Generalized hypotonia, Morbilliform rash, Hypotonia, Skin rash, Optic... OMIM:610377
Dengue Fever
Leukopenia, Hypoproteinemia, Thrombocytopenia ORPHA:99828
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Calf muscle hypoplasia, Distal lower limb amyotrophy, Foot dorsiflexor weakness, Distal lower lim... ORPHA:90103
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Distal amyotrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment, ... OMIM:208920
Neutral Lipid Storage Disease With Ichthyosis
Shoulder girdle muscle weakness, Myopathy, Subcapsular cataract, Increased intramyocellular lipid... ORPHA:98907
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy ORPHA:79281
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Failure to thriv... ORPHA:231226
Myotonic Dystrophy 1
Facial diplegia, Myotonia OMIM:160900
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... OMIM:615441
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Hypogonadotropic hypogonadism, Abnormal muscle fiber morphology, Clinoda... ORPHA:3068
3-Methylglutaconic Aciduria, Type Viib
Cataract, Recurrent pneumonia, Spasticity, Neonatal hypotonia, Hypotonia, Dystonia, Opisthotonus,... OMIM:616271
Cataract 19, Multiple Types
Cortical pulverulent cataract OMIM:615277
Catastrophic Antiphospholipid Syndrome
Pulmonary embolism, Arterial occlusion, Abnormal heart valve morphology, Transient ischemic attac... ORPHA:464343
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Skeletal muscle atrophy, Impaired pain sensation, Paresthesia, Gait ataxia, Limb atax... OMIM:616719
Cardiomyopathy, Familial Hypertrophic, 15
Apical hypertrophic cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic... OMIM:613255
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Optic disc pallor, Cerulean cataract OMIM:616732
Mitochondrial Myopathy With Lactic Acidosis
Fatigue, Tip-toe gait, Dysmetria OMIM:251950
Glycogen Storage Disease Iv
Hepatic failure, Skeletal muscle atrophy, Cardiomyopathy, Abnormal circulating creatine kinase co... OMIM:232500
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lower-limb joint contracture, Skeletal muscle atrophy OMIM:613710
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Proximal muscle weakness in lower limbs, Lower limb muscle weakness, Hip contracture, Knee flexio... OMIM:615290
Autosomal Recessive Spastic Paraplegia Type 67
Generalized amyotrophy ORPHA:401820
Pyomyositis
Myositis, Weight loss, Recurrent cutaneous abscess formation ORPHA:764
Stormorken Syndrome
Myalgia, Increased muscle fatiguability, Myopathy OMIM:185070
Eosinophilic Gastroenteritis
Hypoalbuminemia, Leukocytosis, Eosinophilia, Anemia, Weight loss, Elevated circulating C-reactive... ORPHA:2070
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Distal amyotrophy, Upper limb muscle weakness OMIM:605253
Cardiomyopathy, Familial Hypertrophic, 20
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Left ventricular hypertr... OMIM:613876
Charcot-Marie-Tooth Disease And Deafness
Distal amyotrophy, Thenar muscle weakness, Limb muscle weakness, Foot dorsiflexor weakness, Dista... OMIM:118300
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... OMIM:308240
Autosomal Dominant Spastic Paraplegia Type 17
Distal amyotrophy, Abnormality of the foot musculature, Hand muscle weakness, Foot dorsiflexor we... ORPHA:100998
Cardiomyopathy, Familial Hypertrophic, 21
Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop... OMIM:614676
Snakebite Envenomation
Hypopituitarism, Pain, Rhabdomyolysis, Hyponatremia, Muscle fiber necrosis ORPHA:449285
Giant Axonal Neuropathy
Abnormal hand morphology, Genu valgum, Limb muscle weakness, Abnormality of the Achilles tendon, ... ORPHA:643
Oculopharyngodistal Myopathy 1
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Distal... OMIM:164310
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Combined Oxidative Phosphorylation Deficiency 55
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Hypomagnesemia, Mildly elevated creati... OMIM:619743
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Distal amyotrophy, Foot dorsiflexor weakness, Spinal muscular atrophy OMIM:617207
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... OMIM:612949
Isochromosomy Yp
Azoospermia, Male infertility ORPHA:98797
Coenzyme Q10 Deficiency, Primary, 1
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Elevated circulating creatine kinase conce... OMIM:607426
Sarcosinemia
Optic atrophy, Hypertrophic cardiomyopathy, Peroneal muscle weakness, Infantile sensorineural hea... ORPHA:3129
Juvenile Primary Lateral Sclerosis
Skeletal muscle atrophy ORPHA:247604
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Distal amyotrophy, Upper limb muscle weakness OMIM:607791
Camurati-Engelmann Disease, Type 2
Skeletal muscle atrophy, Mitral regurgitation, Mitral valve prolapse, Hip contracture, Knee flexi... OMIM:606631
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Spermatogenic Failure 38
Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella... OMIM:618433
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car... OMIM:612347
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy OMIM:618855
Fried Syndrome
Cerebral calcification, Skeletal muscle atrophy ORPHA:85335
Lethal Congenital Contracture Syndrome 8
Distal arthrogryposis, Distal amyotrophy, Facial diplegia, Flexion contracture OMIM:616287
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia OMIM:618782
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Lower limb amyotrophy, Knee flexion contracture, Upper l... ORPHA:496689
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Hand muscle weakness, Type 1 muscle fiber predominance, Myopathy, Talipe... ORPHA:98915
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance OMIM:619173
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia, Small for gestational age OMIM:256300
Spinocerebellar Ataxia 12
Head tremor, Action tremor, Facial myokymia, Dysmetria, Axial dystonia, Parkinsonism, Dysdiadocho... OMIM:604326
Autosomal Dominant Progressive External Ophthalmoplegia
Exercise intolerance, Dilated cardiomyopathy, Quadriceps muscle weakness, Shoulder girdle muscle ... ORPHA:254892
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations,... OMIM:601214
Cidec-Related Familial Partial Lipodystrophy
Pancreatitis, Calf muscle hypertrophy, Skeletal muscle hypertrophy ORPHA:435651
Myasthenic Syndrome, Congenital, 19
Increased variability in muscle fiber diameter, Axial muscle weakness, Proximal muscle weakness, ... OMIM:616720
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Eleva... OMIM:615395
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Fatigue, Myopathy ORPHA:257
Brugada Syndrome 7
Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ... OMIM:613120
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Lethal Congenital Contracture Syndrome 7
Distal arthrogryposis, Skeletal muscle atrophy, Facial diplegia, Knee flexion contracture OMIM:616286
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Distal amyotrophy ORPHA:1216
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Aids Wasting Syndrome
Skeletal muscle atrophy ORPHA:90081
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Distal amyotrophy, Decreased motor ne... OMIM:601596
Atrial Septal Defect, Ostium Primum Type
Fixed splitting of the second heart sound, Atrioventricular block, Atrial flutter, Right-to-left ... ORPHA:99106
Retinitis Pigmentosa 37
Posterior subcapsular cataract, Nuclear cataract OMIM:611131
Ebstein Anomaly
Atrial standstill, Right bundle branch block, Ventricular preexcitation, Atrial fibrillation, Sud... OMIM:224700
Tremor, Hereditary Essential, 2
Fatigue OMIM:602134
Mitochondrial Trifunctional Protein Deficiency
Exercise intolerance, Cardiomyopathy, Lower limb muscle weakness, Myalgia, Equinus calcaneus, Hyp... ORPHA:746
Stiff Person Spectrum Disorder
Rigidity, Paraspinal muscle hypertrophy ORPHA:3198
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Ele... OMIM:606685
Cataract 41
Nuclear cataract OMIM:116400
Cataract 18
Nuclear cataract OMIM:610019
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal amyotrop... OMIM:607706
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Distal amyotrophy, Foot osteomyelitis, Distal lower limb amyotrophy, Foot dorsiflexor weakness, D... OMIM:600882
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia OMIM:619013
Episodic Ataxia, Type 2
Myotonia OMIM:108500
Acquired Generalized Lipodystrophy
Cardiomyopathy, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration, Hy... ORPHA:79086
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... OMIM:610202
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr... OMIM:615344
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:616501
Congenital Disorder Of Glycosylation, Type Iio
Hepatic failure, Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy... OMIM:616828
Ehlers-Danlos Syndrome, Classic-Like, 1
Quadricuspid aortic valve, Mitral valve prolapse, Arthralgia, Proximal amyotrophy, Muscle fiber s... OMIM:606408
Primary Sjögren Syndrome
Vasculitis, Arteritis, Somatic sensory dysfunction, Parotitis, Chronic active hepatitis, Chorea, ... ORPHA:289390
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia ORPHA:99811
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Pseudoachondroplasia
Abnormal femoral epiphysis morphology, Short femoral neck, Flared metaphysis, Hypoplasia of the c... ORPHA:750
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Proximal muscle weakness in lower limbs, Proximal muscle weakness in... ORPHA:435660
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... OMIM:618052
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Skeletal muscle atrophy, Diaphyseal cortical sclerosis, Limb muscle weakness, Myopathy, Stenosis ... OMIM:112250
Cutis Laxa-Marfanoid Syndrome
Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Overlapping fingers, Femoral bowing, Ventricular ... OMIM:617022
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Deafness-Vitiligo-Achalasia Syndrome
Skeletal muscle atrophy, Achalasia ORPHA:3239
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Osteopenia, Failure to thrive, Hypocholesterolemia, Abnormal subcutaneous fat ti... OMIM:212065
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Fiber type grouping, Distal amyotrophy, Hypergonadotropic hypogonadism OMIM:271245
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Impaired vibratory sensation, Spastic paraparesis, Interosseus muscle atrophy, Distal lower limb ... OMIM:500013
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Glycerol Kinase Deficiency
Muscular dystrophy, Adrenal insufficiency, Adrenocortical hypoplasia, Myalgia, Cryptorchidism, My... OMIM:307030
Congenital Lethal Erythroderma
Hypoalbuminemia, Failure to thrive ORPHA:1954
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit... OMIM:620356
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Mucolipidosis Type Iii
Abnormal heart valve morphology, Fatigue, Inguinal hernia, Abnormal aortic valve morphology ORPHA:577
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... ORPHA:90044
Congenital Erythropoietic Porphyria
Osteopenia, Leukopenia, Erythroid hyperplasia, Abnormal circulating porphyrin concentration, Reti... ORPHA:79277
Cardiomyopathy, Familial Hypertrophic, 18
Hypertrophic cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Paroxysmal atrial... OMIM:613874
Retinal Dystrophy With Or Without Macular Staphyloma
Posterior subcapsular cataract, Nuclear cataract OMIM:617547
Shigellosis
Pneumonia, Hypovolemic shock, Sepsis, Ulcerative colitis, Rhabdomyolysis, Peritonitis, Arthritis,... ORPHA:810
Charcot-Marie-Tooth Disease Type 2B1
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Should... ORPHA:98856
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Camptodactyly, Flexion contracture, Failure to thrive, Anisocytosis OMIM:604273
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Cardiomyopathy OMIM:609016
Leber Optic Atrophy
Dystonia, Postural tremor, Myopathy, Ataxia OMIM:535000
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased muscle mass, Foot dorsiflexor weakness, Ragged-red muscle fibers, Abnormality of the ex... ORPHA:298
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity, Foot dorsiflexor weakness, Ophthalmoplegia, Short stature, Distal muscle weakness OMIM:618124
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Congestive heart failure, Elevated circulating aspartate aminotransferase... OMIM:610198
Syndromic X-Linked Intellectual Disability 7
Short stature, Obesity, Muscle weakness ORPHA:85274
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Facial hypotonia, Broad-based gait, Handgrip myotonia, Ataxia ORPHA:438216
Q Fever
Pneumonia, Vasculitis, Hepatitis, Abnormal heart valve morphology, Osteomyelitis, Cholecystitis, ... ORPHA:781
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Juvenile Amyotrophic Lateral Sclerosis
Upper-limb joint contracture, Distal amyotrophy, Skeletal muscle atrophy, Arm dystonia, Chorea, M... ORPHA:300605
Neuraminidase Deficiency
Skeletal muscle atrophy, Cardiomyopathy, Epiphyseal stippling, Splenomegaly, Dysmetria, Sensorine... OMIM:256550
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Macrophage Activation Syndrome
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, An... ORPHA:158061
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Failure to thrive, Elevated circulating creatinine concentration, Camptodactyly,... OMIM:608104
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Elevated circulating alpha-fetoprotein concentration, Distal amyotrophy, Chorea, Limb ataxia, Gai... OMIM:606002
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Bun... ORPHA:99103
Mitochondrial Complex I Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Skeletal muscle atrophy OMIM:618228
Spastic Paraplegia 2, X-Linked
Flexion contracture, Skeletal muscle atrophy, Lower limb muscle weakness OMIM:312920
Dystonia 12
Bradykinesia, Tremor, Parkinsonism, Torticollis, Hypomimic face, Dystonia OMIM:128235
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619949
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Skeletal muscle atrophy, Limb muscle weakness OMIM:620378
Hereditary Xanthinuria
Hypouricemia, Myopathy, Flank pain, Chronic fatigue, Hyperxanthinemia ORPHA:3467
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development
Hypotonia, Posterior subcapsular cataract, Generalized hypotonia OMIM:300619
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Limb dystonia, Gait ataxia, Parkinsonism, Craniofacial dystonia, Torticollis, Hyp... ORPHA:71517
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Thenar muscle atrophy, Distal amyotrophy, Foot dorsiflexor weakness OMIM:606483
Bone Marrow Failure Syndrome 6
Osteopenia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutrope... OMIM:618849
Coenzyme Q10 Deficiency, Primary, 4
Myoclonus, Tremor, Decreased level of coenzyme Q10 in skeletal muscle, Abnormal pyramidal sign, I... OMIM:612016
Glycogen Storage Disease Ii
Firm muscles, Reduced muscle alpha-1,4-glucosidase activity, Increased circulating lactate dehydr... OMIM:232300
Myasthenia, Limb-Girdle, Autoimmune
Thymoma, Hashimoto thyroiditis, Proximal amyotrophy, Type 2 muscle fiber atrophy, Mildly elevated... OMIM:159400
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia OMIM:614100
Roussy-Lévy Syndrome
Intrinsic hand muscle atrophy, Distal amyotrophy, Skeletal muscle atrophy, Lower limb muscle weak... ORPHA:3115
Roussy-Levy Hereditary Areflexic Dystasia
Upper limb postural tremor, Distal amyotrophy, Gait ataxia, Action tremor, Distal sensory impairment OMIM:180800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Muscular dystrophy, Adducted thumb, Elevated circulating creatine kinase concentration OMIM:614643
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Decreased circulating ferritin con... OMIM:606159
Adult-Onset Still Disease
Hepatitis, Interstitial pneumonitis, Skin rash, Arthritis, Arthralgia/arthritis, Myocarditis, Per... ORPHA:829
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Weakness of facial musculature, Tremor, Ataxia OMIM:618637
Classical-Like Ehlers-Danlos Syndrome Type 1
Skeletal muscle atrophy, Myalgia, Mitral valve prolapse, Arthralgia, Fatigue ORPHA:230839
Monomelic Amyotrophy
Distal upper limb amyotrophy, Tremor, Fasciculations ORPHA:65684
Systemic Sclerosis
Intestinal bleeding, Right ventricular failure, Nail bed telangiectasia, Osteomyelitis, Interstit... ORPHA:90291
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Hypertrophic cardiomyopathy, Hyperalaninemia, Skeletal muscle atrophy OMIM:616896
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Decreased phosphoribosylpyrophosphate synthetase level, Distal amyotrophy OMIM:311070
Galactokinase Deficiency
Cataract, Nuclear cataract ORPHA:79237
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Zonular cataract, Inf... ORPHA:39044
Relapsing Polychondritis
Uveitis, Keratitis, Hepatitis, Large vessel vasculitis, Recurrent aphthous stomatitis, Episclerit... ORPHA:728
Xanthinuria, Type I
Hypouricemia, Hyperxanthinemia, Myopathy OMIM:278300
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Foot dorsiflexor weakness, Distal amyotrophy, Upper limb muscle weakness OMIM:605588
Carey-Fineman-Ziter Syndrome 1
Hypoplasia of the musculature, Skeletal muscle atrophy, Pectoralis hypoplasia, Cryptorchidism, My... OMIM:254940
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Ele... OMIM:604765
Barth Syndrome
Exercise intolerance, Dilated cardiomyopathy, Elevated monolysocardiolipin/cardiolipin ratio, Hyp... OMIM:302060
Listeriosis
Pneumonia, Arteritis, Sepsis, Congestive heart failure, Osteomyelitis, Pyelonephritis, Cholecysti... ORPHA:533
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Short Stature-Micrognathia Syndrome
Cataract, Astigmatism, Skeletal muscle hypertrophy OMIM:617164
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole... OMIM:246700
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Poems Syndrome
Polycythemia, Sclerosis of hand bone, Sclerosis of foot bone, Sclerosis of skull base, Splenomega... ORPHA:2905
Epidermolysis Bullosa Simplex With Pyloric Atresia
Muscular dystrophy, Flexion contracture, Elevated circulating creatine kinase concentration ORPHA:158684
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy, Achalasia ORPHA:2400
Alexander Disease
Fatigue, Dysmetria, Ataxia OMIM:203450
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Kearns-Sayre Syndrome
Cardiomyopathy, Primary adrenal insufficiency, Ragged-red muscle fibers, Hypoparathyroidism, Diab... OMIM:530000
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Iron deficiency anemia... OMIM:301074
Short Qt Syndrome 1
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... OMIM:609620
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc... ORPHA:268
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Tremor, Distal amyotrophy, Distal sensory impairment OMIM:607734
O'Sullivan-Mcleod Syndrome
Upper limb muscle weakness, Fasciculations, Hand muscle weakness, Tremor, Increased circulating a... ORPHA:99965
Neu-Laxova Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... ORPHA:2671
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Failure to thrive, Anisocytosis, Hypochromia, Poikilocy... OMIM:258900
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Shoulder flexion contracture, Myotonia, Skeletal muscle hypertrophy, Umb... ORPHA:800
Mal De Débarquement
Unsteady gait, Gait imbalance, Fatigue ORPHA:210272
Retinitis Pigmentosa 13
Optic disc drusen, Subcapsular cataract OMIM:600059
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Constrictive pericarditis, Wrist flexion contracture, Arthritis, Congenital finger flexion contra... OMIM:208250
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Hand tremor, Hand muscle weakness, Incoordination, Distal lower limb amyotrophy, Distal upper lim... OMIM:302800
Fetal Encasement Syndrome
Congenital diaphragmatic hernia OMIM:613630
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased muscle mass, Congestive heart failure, Cardiomyopathy, Increased circulating ferritin c... ORPHA:465508
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Quadriceps muscle weakness, Elbow flexion contracture, Difficulty walkin... ORPHA:70
Isaacs Syndrome
Calf muscle hypertrophy ORPHA:84142
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Positive Romber... OMIM:616515
Aicardi-Goutieres Syndrome 5
Flexion contracture, Increased circulating interferon-gamma concentration, Spasticity OMIM:612952
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem... OMIM:613135
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Increased circulating lactate dehydrogenase concentration, Hearing impairment, Hypertrophic cardi... ORPHA:308552
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Failure to thrive, Leukocytosis, Splenomegaly, Elevated circulating creatine kinase concentration... OMIM:615895
Congenital Left Ventricular Aneurysm
Arrhythmia, Congestive heart failure, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Chylomicron Retention Disease
Hypocholesterolemia, EMG: myopathic abnormalities, Myopathy ORPHA:71
Siddiqi Syndrome
Flexion contracture, Lower limb amyotrophy OMIM:618635
Congenital Myopathy 9A
EMG: myopathic abnormalities, Cryptorchidism OMIM:618822
Non-Acquired Isolated Growth Hormone Deficiency
Decreased muscle mass, Delayed puberty, Abdominal obesity, Short stature, Growth delay ORPHA:631
Amyotrophic Lateral Sclerosis 11
Skeletal muscle atrophy OMIM:612577
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... ORPHA:103910
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Brad... ORPHA:240085
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Skeletal muscle atrophy, Erysipelas, Joint contracture, Elevated circulating creatine kinase conc... OMIM:615704
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Posterior subcapsular cataract, Spastic paraparesis, Hypotonia, Astigmatism, Bilateral camptodactyly OMIM:619234
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Hyperlipidemia, Distal sensory impairment, Proximal amyotrophy, Tetr... OMIM:604484
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Ankle flexion contracture, Dilated cardiomyopathy, Hyperammonemia, Rhabdomyolysis, Elevated circu... OMIM:618120
Neuromuscular Oculoauditory Syndrome
Knee flexion contracture, Elevated circulating creatine kinase concentration, Talipes equinovarus... OMIM:618733
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Overlapping toe, EMG: myopathic abnormalities ORPHA:457365
Johanson-Blizzard Syndrome
Anemia, Hypoproteinemia, Failure to thrive ORPHA:2315
Sanjad-Sakati Syndrome
Small hand, Hyperphosphatemia, Cryptorchidism, Myopathy, Hypocalcemia, Congenital hypoparathyroid... ORPHA:2323
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... ORPHA:99095
Postpoliomyelitis Syndrome
Skeletal muscle atrophy, Myalgia, Pain, Arthralgia, Fatigue ORPHA:2942
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Leptospirosis
Hyperproteinemia, Thrombocytopenia ORPHA:509
Spontaneous Periodic Hypothermia
Gait disturbance, Fatigue, Ataxia ORPHA:29822
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, EEG with burs... OMIM:261740
Acute Lung Injury
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... ORPHA:178320
Beta-Ketothiolase Deficiency
Leukocytosis, Hyperammonemia, Hyperuricemia, Weight loss, Thrombocytosis ORPHA:134
Fetal Akinesia Deformation Sequence 4
Camptodactyly, Arthrogryposis multiplex congenita, Skeletal muscle atrophy OMIM:618393
Classic Hodgkin Lymphoma
Chest pain, Weight loss, Fatigue, Ataxia, Bone pain ORPHA:391
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Dystonia, Oculogyric crisis, Skeletal muscle atrophy, Tremor ORPHA:330050
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... OMIM:185000
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Increased circulating i... ORPHA:540
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab... ORPHA:1329
Phoar2-Enteropathy Syndrome
Hypoalbuminemia, Hyperostosis, Periostosis OMIM:614441
Native American Myopathy
Skeletal muscle atrophy, Congenital contracture, Muscle fiber atrophy, Cryptorchidism, Talipes eq... ORPHA:168572
Usher Syndrome
Hypertrophic cardiomyopathy, Abnormal cardiovascular system physiology, Decreased fertility, Myop... ORPHA:886
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Optic atrophy, Hearing impairment, Hypertrophic cardiomyopathy, Paresthesia, Telangiectasia, Tela... ORPHA:79279
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Interstitial Lung And Liver Disease
Intraalveolar phospholipid accumulation, Failure to thrive, Hyperammonemia, Thrombocytosis, Anemia OMIM:615486
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Combined Oxidative Phosphorylation Deficiency 11
Myopathy, Cardiomyopathy OMIM:614922
Autosomal Spastic Paraplegia Type 58
Spasticity, Distal amyotrophy, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Ti... ORPHA:397946
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... OMIM:609040
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Myotonia ORPHA:391307
Brain Dopamine-Serotonin Vesicular Transport Disease
Shuffling gait, Gait disturbance, Fatigue, Ataxia, Hypomimic face, Dysdiadochokinesis ORPHA:352649
Severe Congenital Nemaline Myopathy
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Addu... ORPHA:171430
Marden-Walker Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... ORPHA:2461
Desminopathy
Atrioventricular block, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Weaknes... ORPHA:98909
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Skeletal muscle atrophy OMIM:205250
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612783
Spastic Paraplegia 76, Autosomal Recessive
Skeletal muscle atrophy, Lower limb muscle weakness OMIM:616907
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia ORPHA:2141
Dystonia 28, Childhood-Onset
Spasticity, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dystonia, Torticolli... OMIM:617284
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter OMIM:615595
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Posterior subcapsular cataract, Bronchiectasis OMIM:615434
Mitochondrial Complex I Deficiency, Nuclear Type 31
Skeletal muscle atrophy OMIM:618251
Cataract 20, Multiple Types
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract OMIM:116100
Lethal Congenital Contracture Syndrome 2
Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Skeletal muscle atrophy, Ventricular ... OMIM:607598
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... ORPHA:251623
Immunodeficiency 9
Hypoplasia of the thymus, Myopathy OMIM:612782
Cholangiocarcinoma
Abdominal pain, Fatigue ORPHA:70567
Athyreosis
Macroglossia, Fatigue ORPHA:95713
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Hypogonadism, Elevated circulating creatinine concentrat... ORPHA:85450
Aicardi-Goutieres Syndrome 6
Dystonia, Increased circulating Interferon-alpha concentration, Tremor, Rigidity OMIM:615010
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Flexion contracture, Dilated cardiomyopathy, Bradycardia OMIM:618815
Spastic Paraplegia 30, Autosomal Dominant
Lower limb amyotrophy, Lower limb muscle weakness OMIM:610357
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Secundum atrial septal defect, Skeletal muscle atrophy, Elevated circulating ... OMIM:614300
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Skeletal muscle atrophy, Resting tremor, Incoordination, Limb ataxia, Gait a... OMIM:615157
Autosomal Dominant Spastic Paraplegia Type 6
Skeletal muscle atrophy ORPHA:100988
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Gyrate Atrophy Of Choroid And Retina
Cataract, Subcapsular cataract ORPHA:414
Galloway-Mowat Syndrome 8
Hypoalbuminemia, Enamel hypoplasia OMIM:618349
Cardiomyopathy, Familial Hypertrophic, 28
Apical hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Systolic anterior mot... OMIM:619402
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Skeletal muscle atrophy, Bronchiectasis ORPHA:477814
Citrullinemia Type Ii
Hypoalbuminemia, Decreased body mass index, Decreased HDL cholesterol concentration, Hyperlipidem... ORPHA:247585
Melas
Optic atrophy, Dilated cardiomyopathy, Cardiomyopathy, Concentric hypertrophic cardiomyopathy, Hy... ORPHA:550
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Acroparesthesia, Somatic sensory dysf... ORPHA:206448
Congenital Microcoria
Iris hypopigmentation, Nuclear cataract, Megalocornea, Astigmatism, Corneal stromal edema, Develo... ORPHA:566
Liposarcoma
Abdominal pain, Paresthesia, Weight loss, Fatigue ORPHA:69078
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
3-Hydroxy-3-Methylglutaric Aciduria
Leukopenia, Leukocytosis, Hyperammonemia, Hyperuricemia, Weight loss, Thrombocytosis, Anemia ORPHA:20
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Dysmetria, Arrhythmia, Ataxia, Dysdiadochok... ORPHA:96
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased circulating carnitine concentration, Hypertrophic cardiomyopathy, Reduced left ventricu... OMIM:201475
Exudative Vitreoretinopathy 6
Cataract, Nuclear cataract, Cortical cataract OMIM:616468
Multicentric Carpotarsal Osteolysis Syndrome
Congenital diaphragmatic hernia, Corneal opacity OMIM:166300
Hypermanganesemia With Dystonia 2
Spasticity, Generalized dystonia, Limb dystonia, Tremor, Ankle clonus, Dystonia, Opisthotonus, Pa... OMIM:617013
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... ORPHA:439232
Ataxia-Deafness-Intellectual Disability Syndrome
Skeletal muscle atrophy ORPHA:1188
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Zygomycosis
Nephritis, Gastrointestinal hemorrhage, Hematochezia, Melena, Hepatitis, Epistaxis, Fasciitis, In... ORPHA:73263
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Small for gestatio... OMIM:222470
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged PR interval ORPHA:542306
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Skeletal muscle atrophy OMIM:183050
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Foot dorsiflexor weakness, Distal amyotrophy, Upper limb muscle weakness OMIM:302802
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Segawa Syndrome, Autosomal Recessive
Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Leg muscle stiffness, Generalized limb muscle atrophy, Impaired vibration sensation in the lower ... ORPHA:137898
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia OMIM:615524
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Acroparesthesia, Upper limb muscle we... ORPHA:206443
Charcot-Marie-Tooth Disease, Type 4B3
Distal lower limb muscle weakness, Skeletal muscle atrophy, Upper limb muscle weakness, Lower lim... OMIM:615284
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Gait disturbance, Fatigue ORPHA:314632
Hypothyroidism, Congenital, Nongoitrous, 7
Fatigue OMIM:618573
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elevated circulatin... ORPHA:94093
Carey-Fineman-Ziter Syndrome
Ulnar deviation of finger, Skeletal muscle atrophy, Myopathy, Talipes equinovarus, Brachydactyly,... ORPHA:1358
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Failure to thrive, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosi... OMIM:618278
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight, Gait disturbance, Fatigue ORPHA:589905
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Lower limb muscle weakness, Myoclonus, Tremor, Clumsiness, Eyelid myoclonus, Freq... ORPHA:2590
Polycythemia Vera
Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Weight loss, Thrombocytosis, Myelofibrosis ORPHA:729
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Failure to thrive, Pancytopenia, Macrocytic anemia, Hypomethio... ORPHA:2169
Takayasu Arteritis
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Chest pain, Myalgia, Abnormal aorti... ORPHA:3287
Short Qt Syndrome 7
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death OMIM:620231
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Esophagitis, Telan... ORPHA:3342
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocytosis, Splenomegaly, Anemia, Th... OMIM:615688
Malignant Hyperthermia Of Anesthesia
Cardiomyocyte mitochondrial proliferation, Necrotizing myopathy, Hyperphosphatemia, Exercise-indu... ORPHA:423
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hypotension, Decreased circulating carnitine co... ORPHA:159
X-Linked Intellectual Disability, Miles-Carpenter Type
Skeletal muscle atrophy ORPHA:85283
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle... ORPHA:101097
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss, Fatigue ORPHA:86893
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm ORPHA:2140
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Intrahepatic cholestasis, Dilated cardiomyopathy, Elevated circulat... OMIM:614921
Hepatoportal Sclerosis
Hypoalbuminemia, Hypersplenism, Hyperbilirubinemia, Leukopenia, Splenomegaly, Thrombocytopenia, A... ORPHA:64743
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Skeletal muscle atrophy OMIM:617892
Congenital Disorder Of Glycosylation, Type Iibb
Spasticity, Skeletal muscle atrophy, Tremor, Tetraparesis OMIM:620546
Houge-Janssens Syndrome 1
Facial hypotonia, Fatigue, Gait ataxia, Congenital muscular torticollis OMIM:616355
Leigh Syndrome
Optic atrophy, Hepatic failure, Skeletal muscle atrophy, Eczematoid dermatitis, Congestive heart ... ORPHA:506
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Muscular dystrophy, Congenital contracture, Cryptorchidism, Elevated circulating creatine kinase ... OMIM:236670
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Hypoplasia of the thymus, Enamel hypoplas... OMIM:243150
Lujo Hemorrhagic Fever
Hypotension, Shock, Skin rash, Maculopapular exanthema, Bradycardia, Myocarditis, Subconjunctival... ORPHA:319213
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Proximal muscle weakness in lower limbs, Joint contracture of the hand, Difficulty walking, Spina... ORPHA:466768
Charcot-Marie-Tooth Disease, Dominant Intermediate G
Lower limb amyotrophy, Lower limb muscle weakness, Elevated circulating creatine kinase concentra... OMIM:617882
Subacute Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Positive Romberg sign, Distal sensory impairment, Tremor, Abnormal c... ORPHA:206594
Cirrhotic Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Arrhythmia, Elevated jugular venou... ORPHA:57777
Isochromosomy Yq
Azoospermia, Male infertility ORPHA:98798
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Cerebellar Ataxia, Cayman Type
Skeletal muscle atrophy, Hypomimic face OMIM:601238
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Hypertonia ORPHA:1166
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Limb hypertonia, Facial myokymia, Congestive heart failure ORPHA:324588
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hypertrophic cardiomyopathy, Obesity, Hearing impairment, Ataxia OMIM:620270
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Cardiomyopathy, Familial Hypertrophic, 17
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric... OMIM:613873
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:610532
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hyperphenylalaninemia, Hypertonia, Ata... OMIM:261640
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Involuntary movements, Resting tremor, Chorea, Myoclonus, Facial myokymia, Limb hypertonia, Dysto... OMIM:606703
Congenital Disorder Of Glycosylation, Type Ij
Flexion contracture, Hypoproteinemia OMIM:608093
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume OMIM:620044
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Abetalipoproteinemia
Hyperbilirubinemia, Positive Romberg sign, Myopathy, Ataxia, Hepatomegaly, Impaired vibratory sen... ORPHA:14
Immunodeficiency 92
Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cell... OMIM:619652
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Distal amyotrophy OMIM:205200
Congenital Syphilis
Pneumonia, Keratitis, Synovitis, Pancreatitis, Myocarditis, Rhinitis, Maculopapular exanthema, Uv... ORPHA:499009
Deafness, Congenital, With Vitiligo And Achalasia
Skeletal muscle atrophy, Achalasia OMIM:221350
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperprolinemia, Cardiomegaly, Perimembranous ventricular septal defect, Hyperalaninemia, Limb hy... OMIM:619170
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Type 2 muscle fiber predominance, Congenital contracture, Thymus hyperplasia, Arachnodactyly, Tal... OMIM:619036
Tangier Disease
Distal amyotrophy, Decreased HDL cholesterol concentration, Facial diplegia, Elevated circulating... OMIM:205400
Steinert Myotonic Dystrophy
Abnormality of the tongue muscle, Handgrip myotonia, Dilated cardiomyopathy, Skeletal muscle atro... ORPHA:273
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Kawasaki Disease
Vasculitis, Hepatitis, Double outlet right ventricle with subpulmonary ventricular septal defect ... ORPHA:2331
Mosaic Variegated Aneuploidy Syndrome
Muscular dystrophy, Hypothyroidism, Subvalvular aortic stenosis, Atrial septal defect, Clinodacty... ORPHA:1052
Exudative Vitreoretinopathy 4
Subcapsular cataract OMIM:601813
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Optic atrophy, Skeletal muscle atrophy, Cardiomyopathy, Dysmetria, Limb hypertonia, Ataxia, Athet... OMIM:617710
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia ORPHA:380
Riboflavin Transporter Deficiency
Hypertension, Facial palsy, Limb muscle weakness, Skeletal muscle atrophy ORPHA:97229
Sandhoff Disease, Juvenile Form
Limb joint contracture, Skeletal muscle atrophy, Reduced beta-hexosaminidase activity ORPHA:309162
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration, Failure to thrive ORPHA:79320
Infantile Refsum Disease
Optic atrophy, Hearing impairment, Cardiomyopathy, Elevated circulating phytanic acid concentrati... ORPHA:772
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Intrinsic hand muscle atrophy, Distal amyotrophy, Limb muscle weakness, Skeletal muscle atrophy OMIM:614895
Laryngeal Neuroendocrine Tumor
Chronic fatigue, Weight loss ORPHA:100083
Thyrotoxic Periodic Paralysis
Lower limb muscle weakness, Exercise-induced muscle fatigue, Obesity, Rhabdomyolysis, Weight loss... ORPHA:79102
Amyotrophic Lateral Sclerosis 18
Skeletal muscle atrophy OMIM:614808
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Macroglossia, Growth delay, Increased body mass index OMIM:614450
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia OMIM:108420
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... OMIM:603830
Wolfram Syndrome
Male hypogonadism, Cardiomyopathy, Hypogonadism, Myopathy, Delayed puberty, Diabetes insipidus, D... ORPHA:3463
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Obesity, Hyperammonemia, Hypocalcemia, Elevated circ... ORPHA:26793
Colchicine Poisoning
Hypotension, Cardiogenic shock, Congestive heart failure, Arrhythmia, Myocarditis, Hypovolemia ORPHA:31824
Sandhoff Disease
Skeletal muscle atrophy, Impaired temperature sensation, Hepatosplenomegaly, Cardiomegaly, Orthos... OMIM:268800
Linear Skin Defects With Multiple Congenital Anomalies 2
Optic disc pallor, Congenital diaphragmatic hernia OMIM:300887
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:616950
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Low-set ears, Optic atrophy, Skeletal muscle atrophy, Cardiomyopathy, Gait ataxia, Ataxia, Bilate... OMIM:620089
Harel-Yoon Syndrome
Hypertrophic cardiomyopathy, Distal amyotrophy OMIM:617183
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Weight loss, Muscle weakness, Rhabdomyolysis OMIM:188580
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitations, Left-to-... ORPHA:99104
Congenital Glucokinase-Related Hyperinsulinism
Fatigue ORPHA:79299
Amyotrophic Lateral Sclerosis 9
Distal amyotrophy OMIM:611895
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Congenital diaphragmatic hernia, Abnormality of the diaphragm OMIM:601163
Spastic Paraplegia 9B, Autosomal Recessive
Spastic paraplegia, Spasticity, Skeletal muscle atrophy, Pseudobulbar paralysis, Foot dorsiflexor... OMIM:616586
Cleft Palate-Large Ears-Small Head Syndrome
Skeletal muscle atrophy ORPHA:2013
Juvenile Hyaline Fibromatosis
Skeletal muscle atrophy, Progressive flexion contractures ORPHA:2028
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepatosplenomegal... ORPHA:247598
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... ORPHA:167
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Decreased body weight OMIM:618347
Acrocallosal Syndrome
Congenital diaphragmatic hernia ORPHA:36
Localized Scleroderma
Skeletal muscle atrophy, Sclerosis of finger phalanx, Myopathy, Hashimoto thyroiditis, Arthralgia... ORPHA:90289
Tetrasomy 9P
Abnormal earlobe morphology, Infertility, Glue ear, Abnormal mitral valve morphology, Patent fora... ORPHA:3310
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cataract, Buphthalmos, Hypoglycosylation of alpha-dystroglycan, Infantile muscular hypotonia ORPHA:370997
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tetraparesis, Myoclonus, Hypertriglyceridemia, Tremor, Abnormal pyramidal sign, Ataxi... OMIM:615924
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Distal amyotrophy, Foot dorsiflexor weakness OMIM:607736
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Low-set ears, Arrhythmia, Elevated circulating alanine aminotransferase concentration, Hepatomega... OMIM:608836
Spastic Paraplegia 5A, Autosomal Recessive
Abnormal circulating cholesterol concentration, Upper limb muscle weakness, Lower limb muscle wea... OMIM:270800
Retinitis Pigmentosa 46
Optic disc pallor, Posterior subcapsular cataract OMIM:612572
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8 concentration, Recurrent otitis media, Basal ganglia calcific... OMIM:256040
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Splenomegaly, Lipodystrophy OMIM:608776
Leri-Weill Dyschondrosteosis
Skeletal muscle hypertrophy OMIM:127300
Autosomal Dominant Spastic Paraplegia Type 42
Lower limb amyotrophy, Lower limb muscle weakness, Lower limb hypertonia ORPHA:171863
Ethanolaminosis
Cardiomegaly OMIM:227150
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility OMIM:301060
Pfapa Syndrome
Arthralgia, Abdominal pain, Weight loss, Fatigue ORPHA:42642
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy, Patent fora... OMIM:619167
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Cataract, Nuclear cataract, Hypertonia, Spasticity OMIM:608885
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia ORPHA:529799
Amyotrophic Lateral Sclerosis
Progressive distal muscular atrophy, Skeletal muscle atrophy, Upper limb muscle weakness, Lower l... ORPHA:803
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Cardiomyopathy OMIM:619651
Kennedy Disease
Skeletal muscle atrophy, Abnormal circulating lipid concentration ORPHA:481
Rheumatoid Arthritis
Digital flexor tenosynovitis, Arthralgia, Weight loss, Fatigue OMIM:180300
Developmental And Epileptic Encephalopathy 42
Tremor, Hypertonia, Ataxia, Flexion contracture, Athetosis OMIM:617106
Tonne-Kalscheuer Syndrome
Spasticity, Generalized hypotonia, Congenital diaphragmatic hernia, Blue irides OMIM:300978
Crimean-Congo Hemorrhagic Fever
Morbilliform rash, Retinal hemorrhage, Erythema nodosum, Tachycardia, Epididymitis, Diffuse alveo... ORPHA:99827
Oculoauriculovertebral Spectrum With Radial Defects
Preaxial hand polydactyly, Atrioventricular canal defect, Aplasia/Hypoplasia of the thumb, Tripha... ORPHA:2549
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Ataxia-Telangiectasia
Spasticity, Skeletal muscle atrophy, Tremor, Ataxia, Decreased circulating antibody level ORPHA:100
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Proximal amyotrophy OMIM:608030
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Chorea, Tremor, Abnormality of extrapyramidal motor function,... OMIM:615673
Mitochondrial Complex I Deficiency, Nuclear Type 17
Skeletal muscle atrophy OMIM:618239
Tako-Tsubo Cardiomyopathy
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... ORPHA:66529
Igg4-Related Dacryoadenitis And Sialadenitis
Optic nerve compression, Abnormality of the extraocular muscles, Myositis, Keratoconjunctivitis s... ORPHA:79078
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Subcapsular cataract OMIM:268020
Leber Optic Atrophy And Dystonia
Skeletal muscle atrophy OMIM:500001
Brucellosis
Pneumonia, Hip osteoarthritis, Arteritis, Sacroiliac arthritis, Osteomyelitis, Transient ischemic... ORPHA:1304
Scorpion Envenomation
Acute pancreatitis, Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch ... ORPHA:466677
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Ventricular bigeminy, Limb muscle weakness, Arrhythmia, Left bundle branch block, Facial palsy OMIM:610131
Combined Oxidative Phosphorylation Deficiency 13
Skeletal muscle atrophy OMIM:614932
Alg3-Cdg
Hearing impairment, Cardiomyopathy, Decreased liver function, Abnormal circulating enzyme concent... ORPHA:79321
Hemochromatosis, Type 2A
Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Congestive hear... OMIM:602390
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Spasticity, Distal amyotrophy, Fasciculations, Postural tremor, Lim... OMIM:183090
Facioscapulohumeral Dystrophy
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration ORPHA:269
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus
Microcornea, Posterior subcapsular cataract OMIM:615458
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Distal amyotrophy, Gait ataxia, Myoclonus, Dysmetria, Distal sensory impairment, Tremor, Babinski... OMIM:616505
Multiple Endocrine Neoplasia, Type Iib
Elevated circulating calcitonin concentration, Proximal femoral epiphysiolysis, Pheochromocytoma,... OMIM:162300
Pulmonary Hypertension, Primary, 5
Fatigue, Right ventricular hypertrophy OMIM:265400
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Cardiomyopathy OMIM:619647
Hypotonia-Cystinuria Syndrome
Fatigue, Failure to thrive ORPHA:163690
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Leg muscle stiffness, Myoclonus, Distal sensory impairment, Rigid... OMIM:606693
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Posterior subcapsular cataract, Peripapillary atrophy OMIM:618195
Follicular Lymphoma
Night sweats, Weight loss, Fatigue ORPHA:545
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Camptodactyly of finger, Hypertrophic cardiomyopathy, Congestive heart failure, Abnormal pulmonar... ORPHA:1194
Autosomal Dominant Spastic Paraplegia Type 41
Lower limb amyotrophy, Hand muscle weakness ORPHA:320355
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Hypertonia, Osteoarthritis, Skeletal muscle hypertrophy OMIM:619714
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Skeletal muscle atrophy OMIM:612069
Systemic Lupus Erythematosus, Susceptibility To, 6
Malar rash, Arthritis, Pericarditis OMIM:609939
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Hyperuricemia, Hyponatremia, Type 2 muscle fiber atrophy, Increased blood urea ni... OMIM:613845
Charcot-Marie-Tooth Disease, Type 4K
Skeletal muscle atrophy OMIM:616684
Autoerythrocyte Sensitization Syndrome
Abnormal erythrocyte morphology, Impaired platelet adhesion, Autoimmune thrombocytopenia, Thrombo... ORPHA:324636
Immunodeficiency, Common Variable, 11
Fatigue, Failure to thrive OMIM:615767
Spastic Paraplegia 11, Autosomal Recessive
Thenar muscle atrophy, Obesity, Skeletal muscle atrophy, Lower limb muscle weakness OMIM:604360
Congenital Arthrogryposis With Anterior Horn Cell Disease
Arthrogryposis multiplex congenita, Facial diplegia, Skeletal muscle atrophy OMIM:611890
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Decreased body weight, Hyponatremia, Iron de... ORPHA:1667
Hemochromatosis, Type 2B
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:613313
Ebstein Malformation Of The Tricuspid Valve
Congestive heart failure, Cerebral ischemia, Arrhythmia, Atrial fibrillation, Sudden cardiac deat... ORPHA:1880
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Avian Influenza
Hypoalbuminemia, Lymphopenia, Leukopenia, Elevated circulating creatine kinase concentration, Thr... ORPHA:454836
Combined Immunodeficiency Due To Crac Channel Dysfunction
Myopathy ORPHA:169090
Rhizomelic Chondrodysplasia Punctata, Type 5
Sinus tachycardia, Skeletal muscle atrophy, Contractures of the large joints OMIM:616716
Vici Syndrome
Low-set ears, Decreased circulating IgG level, Dilated cardiomyopathy, Chronic mucocutaneous cand... OMIM:242840
Dopamine Beta-Hydroxylase Deficiency
Exercise-induced muscle fatigue, Chest pain, Fatigue ORPHA:230
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Cebalid Syndrome
Congenital diaphragmatic hernia, Generalized hypotonia OMIM:618774
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-... OMIM:620481
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Skeletal muscle atrophy OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Skeletal muscle atrophy OMIM:616437
Malignant Atrophic Papulosis
Constrictive pericarditis, Gastrointestinal hemorrhage OMIM:602248
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Optic atrophy, Elevated circulating acylcarnitine concentration, Elevated circulating hepatic tra... OMIM:616878
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Cerebral palsy, Tremor, Rigidity, Dystonia, Limb hypertonia, Hypomimic face, B... ORPHA:70594
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythr... ORPHA:231222
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Splenomegaly, Inguinal hernia, Hypoproteinemia, Hypocalcemia OMIM:235255
Retinitis Pigmentosa 14
Optic disc pallor, Posterior subcapsular cataract OMIM:600132
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Bilateral vestibular schwannoma, Vestibular schwannoma, Foot dors... ORPHA:637
Adult Acute Respiratory Distress Syndrome
Pneumonia, Vasculitis, Hypotension, Abnormal circulating interleukin concentration, Abnormality o... ORPHA:70578
Congenital Fiber-Type Disproportion Myopathy
Cor pulmonale, Ankle flexion contracture, Hypoplasia of the musculature, Failure to thrive, Shoul... ORPHA:2020
Thyrocerebroretinal Syndrome
Nephritis, Skeletal muscle atrophy OMIM:274240
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Elevated circulating hepatic transaminase concentration, Skeletal muscle ... ORPHA:264580
Musculocontractural Ehlers-Danlos Syndrome
Slender finger, Decreased muscle mass, Abnormal heart morphology, Abnormal heart valve morphology... ORPHA:2953
Von Hippel-Lindau Disease
Upper limb muscle weakness, Cardiomyopathy, Palpitations, Distal lower limb muscle weakness, Arrh... ORPHA:892
Fixed Subaortic Stenosis
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Paroxysmal atrial fibrill... ORPHA:3092
Spinocerebellar Ataxia 40
Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ankle clonus, Ataxia, Dysd... OMIM:616053
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Abnorm... OMIM:213600
Poliomyelitis
Hypoplasia of the musculature, Exercise intolerance, Skeletal muscle atrophy, Upper limb muscle w... ORPHA:2912
Retinitis Pigmentosa 25
Optic disc pallor, Posterior subcapsular cataract OMIM:602772
Behr Syndrome
Frequent falls, Hamstring contractures, Dysmetria, Tremor, Babinski sign, Achilles tendon contrac... OMIM:210000
Juvenile Polyposis Syndrome
Hypoalbuminemia, Anemia, Failure to thrive, Hypokalemia OMIM:174900
Retinitis Pigmentosa 72
Optic disc pallor, Posterior subcapsular cataract, Peripapillary atrophy OMIM:616469
Felty Syndrome
Recurrent infections, Recurrent pneumonia, Sepsis, Recurrent respiratory infections, Recurrent ur... ORPHA:47612
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hypertrophic cardiomyopa... ORPHA:17
Melorheostosis
Skeletal muscle atrophy, Arthritis ORPHA:2485
Lissencephaly 8
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration OMIM:617255
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Mitochondrial Dna Depletion Syndrome 18
Distal amyotrophy, Foot dorsiflexor weakness, Hand muscle atrophy, Weakness of facial musculature OMIM:618811
Generalized Pustular Psoriasis
Hypoalbuminemia, Lymphopenia, Obesity, Leukocytosis, Hypocalcemia, Hyponatremia, Elevated circula... ORPHA:247353
Stuve-Wiedemann Syndrome 1
Myotonia, Elbow flexion contracture, Knee flexion contracture, Contracture of the proximal interp... OMIM:601559
Isolated Anencephaly
Congenital diaphragmatic hernia ORPHA:563609
Parkinson Disease 14, Autosomal Recessive
Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Axial d... OMIM:612953
Retinitis Pigmentosa 66
Optic disc pallor, Posterior subcapsular cataract OMIM:615233
Congenital Myopathy 19
Congenital contracture, Facial hypotonia, Skeletal muscle atrophy OMIM:618578
Al Amyloidosis
Hypoalbuminemia, Abnormal cardiac ventricle morphology, Gastrointestinal hemorrhage, Abnormal P w... ORPHA:85443
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Spastic tetraplegia, Spastic gait, Resting tremor, Bradykinesia, Tremor, Dyst... OMIM:300055
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Nuclear cataract, Flexion contracture of finger ORPHA:1010
Hyperinsulinism Due To Insr Deficiency
Fatigue ORPHA:263458
Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy OMIM:105400
Triosephosphate Isomerase Deficiency
Skeletal muscle atrophy, Congestive heart failure, Cholecystitis, Myopathy, Splenomegaly, Jaundic... OMIM:615512
Alveolar Echinococcosis
Abnormality of the diaphragm, Abnormal pericardium morphology, Asthenia, Chest pain, Abnormal ske... ORPHA:284
Donnai-Barrow Syndrome
Iris coloboma, Congenital diaphragmatic hernia ORPHA:2143
Intellectual Disability And Myopathy Syndrome
Fatigue, Achilles tendon contracture OMIM:619719
Atrial Standstill 1
Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, Premature atrial contra... OMIM:108770
Ferguson-Bonni Neurodevelopmental Syndrome
Hypotonia, Congenital diaphragmatic hernia OMIM:619699
1Q41Q42 Microdeletion Syndrome
Neonatal hypotonia, Abnormality iris morphology, Congenital diaphragmatic hernia ORPHA:250999
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hearing impairment, Lower limb muscle weakness, Elevated circulating alanine aminotransferase con... ORPHA:365
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Restrictive cardiomyopathy, Mitral regurgitation, Patent foramen ovale, Camptodactyly, Flexion co... ORPHA:88630
Developmental And Epileptic Encephalopathy 86
Generalized amyotrophy OMIM:618910
Neuropathy, Congenital, With Arthrogryposis Multiplex
Distal amyotrophy, Arthrogryposis multiplex congenita OMIM:162370
Gm1-Gangliosidosis, Type Iii
Skeletal muscle atrophy, Decreased beta-galactosidase activity OMIM:230650
Refsum Disease
Skeletal muscle atrophy, Cardiomyopathy, Splenomegaly, Sensorineural hearing impairment, Ataxia, ... ORPHA:773
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Anemia, Weight loss, Leukocytosis ORPHA:67
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Postnatal growth retardation, Large for gestational age, Diastasis recti, Overgrowth, Small for g... ORPHA:254534
Cataract 3, Multiple Types
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract OMIM:601547
Retinitis Pigmentosa 10
Optic disc pallor, Posterior subcapsular cataract OMIM:180105
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Pneumonia, Elevated gamma-glutamyltransferase level, Gastrointestinal hemorrhage, Cardiomyopathy,... ORPHA:247691
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Optic atrophy, Elevated circulating acylcarnitine concentration, Elevated circulating hepatic tra... ORPHA:480864
Schindler Disease, Type I
Reduced alpha-N-acetylgalactosaminidase activity in cultured fibroblasts, Generalized amyotrophy OMIM:609241
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Distal amyotrophy, Foot osteomyelitis ORPHA:139578
Sneddon Syndrome
Hemiplegia, Tremor, Impaired distal tactile sensation, Decreased circulating total IgM, Facial palsy OMIM:182410
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Foot joint contracture, Skeletal muscle atrophy ORPHA:457205
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, ... OMIM:277410
Familial Atrial Fibrillation
Chest pain, Exercise intolerance, Fatigue ORPHA:334
Congenital Myopathy 17
Hand clenching, Diaphragmatic eventration, Clinodactyly, Overlapping toe, Overlapping fingers, My... OMIM:618975
Autosomal Recessive Spastic Paraplegia Type 66
Limb hypertonia, Lower limb amyotrophy ORPHA:401815
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Distal amyotrophy OMIM:607831
Propionic Acidemia
Arrhythmia, Propionyl-CoA carboxylase deficiency, Hyperammonemia, Cardiomyopathy ORPHA:35
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A... ORPHA:860
Neurodegeneration With Brain Iron Accumulation 4
Spasticity, Distal amyotrophy, Generalized dystonia, Tremor, Abnormality of extrapyramidal motor ... OMIM:614298
Chromosome Xp11.3 Deletion Syndrome
Cataract, Posterior subcapsular cataract, Optic atrophy OMIM:300578
Adult-Onset Cervical Dystonia, Dyt23 Type
Neck muscle hypertrophy, Axial dystonia, Craniofacial dystonia, Torticollis, Writer's cramp, Foca... ORPHA:420492
Roifman Syndrome
Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Hepatosplenomegaly, Hip contr... ORPHA:353298
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Hyper... OMIM:619386
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Decreased testicular size, Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:615287
Coronary Arterial Fistula
Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati... ORPHA:2041
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Proximal muscle weakness in upper limbs, Cardiomyopathy, Lower limb muscle weakness, Dilatation o... ORPHA:363623
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m... ORPHA:1345
Sialidosis Type 2
Flexion contracture, Skeletal muscle atrophy, Tremor, Ataxia ORPHA:87876
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Distal amyotrophy, Foot dorsiflexor weakness OMIM:614436
Xp22.13P22.2 Duplication Syndrome
Hypotonia, Short neck, Congenital diaphragmatic hernia ORPHA:284180
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:34587
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Impaired vibratory sensation, Recurrent pneumonia, Decreased muscle mass, Congestive heart failur... ORPHA:1900
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatosplenomegaly, Splenomegaly, Inguinal hernia, Hypocalcemia, Hypoproteinemia ORPHA:1655
Syndromic Diarrhea
Lymphopenia, Inguinal hernia, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Abnormality... ORPHA:84064
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Osteomyelitis, Skeletal muscle atrophy, Foot osteomyelitis OMIM:162400
Intellectual Disability-Developmental Delay-Contractures Syndrome
Distal amyotrophy, Congenital foot contractures ORPHA:3454
Temple Syndrome
Intrauterine growth retardation, Obesity, Hypercholesterolemia, Truncal obesity, Hypertriglycerid... OMIM:616222
Friedreich Ataxia
Optic atrophy, Decreased motor nerve conduction velocity, Hearing impairment, Cardiomyopathy, Cho... ORPHA:95
Propionic Acidemia
Eczematoid dermatitis, Cardiomyopathy, Propionyl-CoA carboxylase deficiency, Hyperglycinemia, Hyp... OMIM:606054
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Deafness, X-Linked 5, With Peripheral Neuropathy
Skeletal muscle atrophy OMIM:300614
Brugada Syndrome 4
Atrial fibrillation, Syncope, Shortened QT interval OMIM:611876
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Developmental And Epileptic Encephalopathy 35
Cardiomyopathy OMIM:616647
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Hyperkinetic movements, Limb hypertonia, Hyperphenylalaninemia, Dystonia, Chore... OMIM:233910
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cerebral calcification, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration ORPHA:1933
Proximal 16P11.2 Microduplication Syndrome
Hypotonia, Congenital diaphragmatic hernia ORPHA:370079
Hemochromatosis, Type 3
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:604250
Spinocerebellar Ataxia Type 3
Skeletal muscle atrophy ORPHA:98757
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Failure to thrive, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Increased HbA2 hemoglobin, Increased bone mineral density, Decreased me... OMIM:616943
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Flexion contracture, Fatigue, Failure to thrive ORPHA:98791
Exudative Vitreoretinopathy 1
Subcapsular cataract OMIM:133780
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl... ORPHA:99027
Spondylodysplastic Ehlers-Danlos Syndrome
Posterior subcapsular cataract, Optic disc coloboma, Megalocornea, Elbow flexion contracture, Hyp... ORPHA:536471
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Elevated red c... OMIM:105650
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Limb dystonia, Tremor, Torticollis, T... ORPHA:99657
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Elevated circulating hepatic transamin... OMIM:615471
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Hypoalbuminemia, Decreased circulating iron concentration, Atypical scarring of skin, Decreased c... ORPHA:89842
Systemic Lupus Erythematosus
Nephritis, Malar rash, Lupus nephritis, Arthritis, Pericarditis OMIM:152700
Mast Cell Sarcoma
Weight loss, Fatigue ORPHA:66661
Yao Syndrome
Ventricular hypertrophy, Uveitis, Inflammatory abnormality of the skin, Skin rash, Keratoconjunct... OMIM:617321
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Spinocerebellar Ataxia 23
Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Bab... OMIM:610245
Neuroferritinopathy
Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Chorea, Leg dystonia, Decreas... ORPHA:157846
Hemochromatosis, Type 4
Arthralgia, Fatigue, Cardiomyopathy OMIM:606069
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... ORPHA:240103
Craniofrontonasal Dysplasia
Hypotonia, Congenital diaphragmatic hernia, Camptodactyly of finger ORPHA:1520
Hsd10 Disease, Neonatal Type
Hypertrophic cardiomyopathy, Abnormal circulating enzyme concentration or activity ORPHA:391457
Typhoid
Myalgia, Arthralgia, Fatigue, Ataxia, Abdominal pain ORPHA:99745
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Obesity, Truncal obesity OMIM:240900
Infantile Krabbe Disease
Hyperesthesia, Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing... ORPHA:206436
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Failure to thrive, Increased serum bile acid concentration, Decreased circulatin... OMIM:242150
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Optic atrophy, Hypertrophic cardiomyopathy, Gait ataxia, Lower limb amyotrophy, Optic nerve hypop... ORPHA:496790
X-Linked Intellectual Disability, Seemanova Type
Abnormal heart morphology, Hypoplasia of the musculature, Skeletal muscle atrophy ORPHA:85323
Familial Thrombocytosis
Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Weight loss, Thrombocytosis ORPHA:71493
Cardiac-Valvular Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Atrophic scars, Inguinal hernia, Mitral valve prolapse, Left ven... ORPHA:230851
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Mitral regurgitation, Knee flexion contracture, Ventricular septal defec... OMIM:603387
Familial Cold Urticaria
Myalgia, Arthralgia, Fatigue, Abdominal pain, Dysesthesia ORPHA:47045
Lipodystrophy, Familial Partial, Type 2
Acute pancreatitis, Decreased HDL cholesterol concentration, Increased intramuscular fat, Hyperch... OMIM:151660
Saccharopinuria
Hypercystinemia, Gait ataxia, Hyperammonemia, Tremor, Distal sensory impairment, Hyperlysinemia, ... ORPHA:3124
Spermatogenic Failure 77
Azoospermia, Multiflagellar spermatozoa, Oligozoospermia, Male infertility OMIM:620103
Familial Colorectal Cancer Type X
Cardiac diverticulum, Gait disturbance, Weight loss, Fatigue, Abdominal pain, Flexion contracture ORPHA:440437
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Distal amyotrophy OMIM:606482
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Spasticity, Decreased muscle mass, Myopathy, Rigidity, Dystonia, Babinski sign, Pa... OMIM:234200
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Postnatal growth retardation, Rhabdomyolysis, Elevated circulating creat... ORPHA:79240
Autosomal Recessive Spastic Paraplegia Type 26
Skeletal muscle atrophy ORPHA:101006
Cooper-Jabs Syndrome
Hypotonia, Congenital diaphragmatic hernia, Camptodactyly of finger ORPHA:1488
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Congenital Sucrase-Isomaltase Deficiency
Abdominal colic, Failure to thrive, Fatigue, Abdominal pain, Bowel incontinence ORPHA:35122
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Talipes equinovarus, Type 1 muscle fiber predominance, Skeletal muscle atrophy, Myopathy OMIM:614557
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Tall stature, Myopathy, Telangiectasia, Angina pectoris, Hashimoto thyro... ORPHA:109
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Skeletal muscle atrophy, Joint contracture OMIM:617481
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Left ventricular noncompaction, Interstitial cardiac fibrosis, Bicuspid a... OMIM:613426
Combined Oxidative Phosphorylation Deficiency 12
Ragged-red muscle fibers, Elevated circulating alpha-fetoprotein concentration OMIM:614924
Endocardial Fibroelastosis
Endocardial fibroelastosis, Restrictive cardiomyopathy, Congestive heart failure ORPHA:2022
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Fatigue, Failure to thrive, Ataxia ORPHA:927
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy, Fatal liver failure in infancy ORPHA:254857
Cockayne Syndrome Type 1
Optic atrophy, Male hypogonadism, Elevated circulating hepatic transaminase concentration, Foot j... ORPHA:90321
Polyarteritis Nodosa
Cardiomyopathy, Raynaud phenomenon, Elevated circulating C-reactive protein concentration, Hypert... ORPHA:767
Retinitis Pigmentosa 43
Optic disc pallor, Posterior subcapsular cataract OMIM:613810
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Undetectable visual evoked potentials, Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tric... OMIM:619051
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Wolff-P... OMIM:613690
Hyperprolinemia Type 2
Exercise intolerance, Myalgia, Chronic fatigue, Distal sensory impairment, Abdominal pain, Unstea... ORPHA:79101
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Skeletal muscle atrophy ORPHA:2840
Amyotrophic Dystonic Paraplegia
Skeletal muscle atrophy OMIM:105300
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Idiopathic Hypereosinophilic Syndrome
Failure to thrive, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, ... ORPHA:3260
Mpi-Cdg
Hypoalbuminemia, Failure to thrive ORPHA:79319
Presynaptic Congenital Myasthenic Syndromes
Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Distal lower limb mu... ORPHA:98914
Congenital Myasthenic Syndrome
Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Distal lower limb mu... ORPHA:590
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Acute pancreatitis, Elevated circulating hepatic transaminase concentration, Low... OMIM:619487
Parkinson Disease 20, Early-Onset
Short stepped shuffling gait, Shuffling gait, Leg muscle stiffness, Gait disturbance, Fatigue OMIM:615530
Combined Oxidative Phosphorylation Deficiency 23
Hypertrophic cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure OMIM:616198
Schwannomatosis, Vestibular
Cataract, Posterior subcapsular cataract, Bilateral vestibular schwannoma, Vestibular schwannoma,... OMIM:101000
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Cystic Echinococcosis
Abnormal heart morphology, Epigastric pain, Weight loss, Fatigue, Abnormality of the diaphragm ORPHA:400
Coffin-Siris Syndrome 3
Macroglossia, Hypotonia, Central diaphragmatic hernia OMIM:614608
Hereditary Sensory And Autonomic Neuropathy Type 2
Skeletal muscle atrophy ORPHA:970
Reni Syndrome
Hypoalbuminemia, Lymphopenia, Hypertriglyceridemia OMIM:617575
Choreoacanthocytosis
Peroneal muscle atrophy, Impaired vibratory sensation, Distal amyotrophy, Dilated cardiomyopathy,... ORPHA:2388
Ravine Syndrome
Abnormal auditory evoked potentials, Ataxia ORPHA:99852
Amyotrophic Lateral Sclerosis 8
Proximal amyotrophy, Skeletal muscle atrophy, Distal amyotrophy OMIM:608627
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Increased QRS voltage, Abnormal pulse pressure, Abnormal T-wave, Reduced l... ORPHA:3093
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Leukopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Flexion contrac... OMIM:617303
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight, Fatigue ORPHA:276608
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Hepatic failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Chorea, Gait... ORPHA:255210
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity, Osteoarthritis ORPHA:2206
Aceruloplasminemia
Blepharospasm, Decreased circulating iron concentration, Involuntary movements, Decreased circula... ORPHA:48818
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Elevated circulating alpha-fetoprotein concentration, Impaired vibration sensation in the lower l... ORPHA:95433
Gyrate Atrophy Of Choroid And Retina
Posterior subcapsular cataract OMIM:258870
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Pneumonia, Hepatosplenomegaly, Abnormal circulating enzyme concentration or... ORPHA:309282
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Thrombocytopenia, Normochromic anemia OMIM:254900
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Elevated circulating deoxyuridine concentration, Distal amyotrophy, Ragged-red muscle fibers, Ele... OMIM:603041
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Skeletal muscle atrophy, Elevated circulating aspartate aminotransferase concentration, Hyperglyc... OMIM:245400
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Small hand, Elbow flexion contracture, Knee flexion contracture, Hip contracture, Arachnodactyly,... ORPHA:371364
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2
Skeletal muscle atrophy OMIM:619759
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Atrial flutter, Contractures of the large joints, Congestive heart failure... ORPHA:324410
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... ORPHA:64753
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Skeletal muscle atrophy, Joint contracture OMIM:615419
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy OMIM:105550
Jansen-De Vries Syndrome
Hypotonia, Central diaphragmatic hernia OMIM:617450
Cardiogenic Shock
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... ORPHA:97292
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Failure to thrive, Hyperbilirubinemia, Splenomegaly, Thrombocytopenia, Elevated ... OMIM:251880
Hemochromatosis, Type 1
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:235200
Drug-Induced Lupus Erythematosus
Malar rash, Elevated circulating creatine kinase concentration, Serositis, Elevated circulating C... ORPHA:231111
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Lower limb muscle weakness, Tremor, Hemiparesis, Hypertonia, Hypoes... OMIM:619737
Pyruvate Dehydrogenase E3 Deficiency
Elevated circulating branched chain amino acid concentration, Hepatic failure, Decreased circulat... ORPHA:2394
Shwachman-Diamond Syndrome
Normocytic anemia, Hypoamylasemia, Osteopenia, Aplastic anemia, Increased mean corpuscular volume... ORPHA:811
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Hypertension, Cardiomyopathy OMIM:102200
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Skeletal muscle atrophy, Dysmetria OMIM:615578
Myhre Syndrome
Hearing impairment, Hypogonadism, Abnormal cardiac septum morphology, Hypertension, Skeletal musc... ORPHA:2588
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Broad thumb, Secundum atrial septal defect, Clinodactyly, Cryptorchidism, Myopathy, Hypoplasia of... OMIM:612541
Lethal Congenital Contracture Syndrome 1
Arthrogryposis multiplex congenita, Hypoplasia of the musculature, Skeletal muscle atrophy OMIM:253310
Retinitis Pigmentosa 60
Optic disc pallor, Posterior subcapsular cataract OMIM:613983
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin ... OMIM:617052
13Q12.3 Microdeletion Syndrome
Camptodactyly, Atopic dermatitis, Chronic otitis media, Congenital diaphragmatic hernia ORPHA:412035
Retinitis Pigmentosa 77
Posterior subcapsular cataract OMIM:617304
Pontocerebellar Hypoplasia, Type 1B
Flexion contracture, Skeletal muscle atrophy OMIM:614678
Schisis Association
Congenital diaphragmatic hernia ORPHA:63862
Congenital Bile Acid Synthesis Defect Type 4
Tremor, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Ataxia ORPHA:79095
Mohr-Tranebjaerg Syndrome
Dystonia, Intrinsic hand muscle atrophy, Spasticity, Tremor OMIM:304700
Blau Syndrome
Flexion contracture of toe, Uveitis, Nongranulomatous uveitis, Eczematoid dermatitis, Camptodacty... OMIM:186580
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Distal amyotrophy, Hearing impairment, Decreased nerve conduction velocity, Short-segment agangli... OMIM:609136
Mogs-Cdg
Optic atrophy, Decreased circulating IgG level, Decreased circulating IgA level, Hepatosplenomega... ORPHA:79330
Retinitis Pigmentosa 83
Posterior subcapsular cataract OMIM:618173
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi... ORPHA:91349
Gerstmann-Straussler Disease
Spasticity, Lower limb muscle weakness, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Pa... OMIM:137440
Pontocerebellar Hypoplasia, Type 16
Skeletal muscle atrophy, Limb hypertonia OMIM:619527
Partial Atrioventricular Septal Defect
Exercise-induced muscle fatigue ORPHA:1330
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Subdural hemorrhage, Multiple joint contractures, Flexion contracture, A... OMIM:618291
Scedosporiosis
Pneumonia, Sepsis, Osteomyelitis, Sinusitis, Arthralgia/arthritis, Septic arthritis, Endocarditis... ORPHA:449280
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Cardiomyopathy OMIM:615119
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Decreased response to growth hormo... ORPHA:90695
Retinitis Pigmentosa 23
Posterior subcapsular cataract OMIM:300424
Pontocerebellar Hypoplasia Type 1
Arthrogryposis multiplex congenita, Skeletal muscle atrophy ORPHA:2254
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Failure to thrive, Atrophic scars, Scarring, Enamel hypoplasia, Anemia, Craniosy... ORPHA:79396
Microform Holoprosencephaly
Tetralogy of Fallot, Panhypopituitarism, Hypothyroidism, Maternal diabetes, EMG: myopathic abnorm... ORPHA:280200
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... OMIM:607671
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Skeletal muscle atrophy, Decerebrate rigidity, Hip flexor we... ORPHA:845
Dilated Cardiomyopathy With Ataxia
Optic atrophy, Diaphragmatic eventration, Dilated cardiomyopathy, Elevated circulating glutaric a... ORPHA:66634
Halperin-Birk Syndrome
Optic atrophy, Congenital diaphragmatic hernia, Hypertonia, Developmental cataract, Flexion contr... OMIM:618651
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Joint contracture, Ataxia OMIM:616881
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Flexion contracture, Skeletal muscle atrophy, Pulmonic stenosis ORPHA:75496
Myhre Syndrome
Low-set ears, Aortic valve stenosis, Hearing impairment, Generalized muscle hypertrophy, Obesity,... OMIM:139210
Gm1 Gangliosidosis
Low-set ears, Optic atrophy, Cardiomyopathy, Camptodactyly of finger, Congestive heart failure, A... ORPHA:354
Thymic Carcinoma
Chest pain, Weight loss, Fatigue ORPHA:99868
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Skeletal muscle atrophy OMIM:618603
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Camptodactyly, Tricuspid regurgitation, Right bundle branch block, Mitral regurgitation OMIM:619576
Congenital Heart Block
Exercise intolerance, Endocardial fibroelastosis, Patent foramen ovale, Fatigue, Pericardial effu... ORPHA:60041
Posterior Column Ataxia With Retinitis Pigmentosa
Joint contracture of the hand, Skeletal muscle atrophy, Flexion contracture of finger, Achalasia,... OMIM:609033
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Telangiectasia of the skin, Finger ... OMIM:212112
Myasthenic Syndrome, Congenital, 21, Presynaptic
Exercise intolerance, Difficulty walking, Knee flexion contracture, Weakness of facial musculatur... OMIM:617239
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Absent extraocular muscles, Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypohomocysteinemia, Hypocystinemia, Decreased circulating IgA level, Tremor, Decreased serum cre... OMIM:617744
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Myoclonus, Tremor, Rigidity, Lower limb ... OMIM:612736
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:253280
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrioventricular block ORPHA:93317
Amyotrophy, Hereditary Neuralgic
Skeletal muscle atrophy OMIM:162100
Immunodeficiency 61
Recurrent otitis media, Obesity, Recurrent sinusitis OMIM:300310
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Somatic sensory dysfunction, Abnormal motor evoked potential... ORPHA:320401
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short stature, Overweight, Upper limb muscle weakness ORPHA:370010
Arterial Calcification, Generalized, Of Infancy, 2
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... OMIM:614473
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Cardiomyopathy, Familial Hypertrophic, 12
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Vent... OMIM:612124
Isolated Agammaglobulinemia
Cellulitis, Fatigue, Failure to thrive ORPHA:229717
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Fatigue, Atrial septal defect, Scapular winging, Ventricular septal defect OMIM:617061
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Skin rash, Arthritis, Juvenile rheumatoid arthritis, Pericarditis ORPHA:85414
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Sézary Syndrome
Abnormal immunoglobulin level, Skeletal muscle atrophy, Tremor ORPHA:3162
Microhydranencephaly
Skeletal muscle atrophy, Multiple joint contractures, Generalized amyotrophy OMIM:605013
Combined Oxidative Phosphorylation Defect Type 23
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... ORPHA:444013
Mitochondrial Complex I Deficiency, Nuclear Type 1
Undetectable visual evoked potentials, Hepatic failure, Skeletal muscle atrophy, Concentric hyper... OMIM:252010
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Hypertensive crisis, Pancreatitis, Myocarditis, Septic arthritis, Hypertension, Acute ... ORPHA:544482
Mitochondrial Complex I Deficiency, Nuclear Type 35
Hyperprolinemia, Pulmonary arterial hypertension, Hyperalaninemia, Cardiomyopathy OMIM:619003
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Skeletal muscle atrophy, Bradycardia OMIM:619272
Microscopic Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Uveitis, Epistaxis, Congestive heart failure, Episclerit... ORPHA:727
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased body weight, Fatigue, Small for gestational age OMIM:274300
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
3-Methylglutaconic Aciduria Type 4
Decreased liver function, Cardiomyopathy ORPHA:67048
Noonan Syndrome 8
Eczematoid dermatitis, Hypertrophic cardiomyopathy, Mitral regurgitation, Ventricular septal defe... OMIM:615355
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
EEG with abnormally slow frequencies, Decreased liver function, Congestive heart failure, Hypertr... ORPHA:70472
Fucosidosis
Hepatomegaly, Cardiomegaly, Hearing impairment, Decreased muscle mass ORPHA:349
Choreoacanthocytosis
Elevated circulating creatine kinase concentration, Limb muscle weakness, Skeletal muscle atrophy OMIM:200150
Autosomal Dominant Dopa-Responsive Dystonia
Impaired vibration sensation in the lower limbs, Gait ataxia, Fatigue, Progressive flexion contra... ORPHA:98808
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Generalized amyotrophy OMIM:610006
Dihydrolipoamide Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Increased serum pyruvate, Decreased liver function, Elevated circula... OMIM:246900
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Small hypothenar eminence, Absence of secondary... ORPHA:2232
Hepatitis Delta
Malaise, Abdominal pain, Fatigue ORPHA:402823
Gitelman Syndrome
Chondrocalcinosis, Failure to thrive, Rhabdomyolysis, Arthralgia, Fatigue, Ataxia, Abdominal pain OMIM:263800
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Hypop... ORPHA:95494
Combined Oxidative Phosphorylation Deficiency 58
Hyperprolinemia, Hyperalaninemia, Ragged-red muscle fibers OMIM:620451
Cogan Syndrome
Anemia, Leukocytosis, Thrombocytosis ORPHA:1467
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Increased circul... OMIM:600649
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Hypoplasia of the musculature, Small hypothenar eminence, Macrotia, Tall stature, Cardiomegaly, T... ORPHA:2463
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Low-set ears, Large fleshy ears, Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiome... OMIM:616897
Beck-Fahrner Syndrome
Ventricular septal defect, Protruding ear, Cardiomegaly, EEG abnormality, Facial hypotonia OMIM:618798
Roifman Syndrome
Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Hip contracture, Ventricular ... OMIM:616651
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Chills, Weight loss, Fatigue, Panniculitis ORPHA:86884
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Leukocytosis, Failure to thrive, Thrombocytosis OMIM:618213
Kyphoscoliotic Ehlers-Danlos Syndrome
Low-set ears, Skeletal muscle atrophy, Hearing impairment, Conductive hearing impairment, Subdura... ORPHA:536545
Serkal Syndrome
Congenital diaphragmatic hernia ORPHA:139466
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Abnormal auditory evoked potentials, Shoulder flexion contracture,... OMIM:193700
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Optic atrophy, Decreased liver function, Hypertrophic cardiomyopathy, Hepatomegaly, Ataxia, Bilat... ORPHA:436271
Attrv30M Amyloidosis
Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia, Abnormal autonomic nervous syst... ORPHA:85447
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Premature ventricular contraction, Heart block ORPHA:1964
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Bradycardia, Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:616276
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Abnormal circulating interleukin concentration, Elevated circulating hepatic transam... ORPHA:542323
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity, Hypertriglyceridemia ORPHA:71529
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Alg12-Cdg
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Hyponatremia, Thrombocytopenia, B lympho... ORPHA:79324
Stromme Syndrome
Myopathy, Preaxial polydactyly OMIM:243605
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Hearing impairment, Cerebral calcificati... ORPHA:858
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Generalized dystonia, Multiple joint contractures, Tremor, Babinski sign, Torticol... OMIM:128100
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Osteopenia, Rickets, Failure to thrive, Slender build, Pancytopenia, Inguinal he... OMIM:613658
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Gillessen-Kaesbach-Nishimura Syndrome
Flexion contracture, Congenital diaphragmatic hernia, Short neck OMIM:263210
Developmental And Epileptic Encephalopathy 95
Hearing impairment, EEG with burst suppression, Multiple joint contractures, Elevated circulating... OMIM:618143
Pontocerebellar Hypoplasia, Type 11
Skeletal muscle atrophy OMIM:617695
Spinal Arteriovenous Metameric Syndrome
Cutaneous angiolipomas, Gangrene, Arthralgia, Fatigue, Bone pain ORPHA:53721
Wars2-Related Combined Oxidative Phosphorylation Defect
Low-set ears, Cardiomyopathy, Abnormal circulating enzyme concentration or activity, Dysmetria, L... ORPHA:572798
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... ORPHA:330001
Hepatic Veno-Occlusive Disease
Increased body weight, Increased total bilirubin ORPHA:890
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart valv... ORPHA:363705
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Progressive extrapyramidal muscular rigidity, Axial dystonia, Tremor, Dystonia, Pa... ORPHA:240071
Cystinosis, Nephropathic
Male hypogonadism, Decreased circulating carnitine concentration, Skeletal muscle atrophy, Hypoma... OMIM:219800
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Congestive heart failure OMIM:615440
Donnai-Barrow Syndrome
Cataract, Hypoplasia of the iris, Congenital diaphragmatic hernia, Iris coloboma, Diaphragmatic e... OMIM:222448
Benign Recurrent Intrahepatic Cholestasis
Abdominal pain, Weight loss, Fatigue ORPHA:65682
Cerebrotendinous Xanthomatosis
Optic atrophy, Tendon xanthomatosis, Distal amyotrophy, Abnormal auditory evoked potentials, Soma... ORPHA:909
Retinitis Pigmentosa
Keratoconus, Posterior subcapsular cataract, Optic atrophy, Optic disc pallor ORPHA:791
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Bundle branch block, Arrhythmia, Aplasia/Hypoplasia of the abdominal... ORPHA:500
Flynn-Aird Syndrome
Cerebral calcification, Skeletal muscle atrophy ORPHA:2047
Cryptogenic Organizing Pneumonia
Chest pain, Night sweats, Arthralgia, Weight loss, Fatigue ORPHA:1302
Combined Oxidative Phosphorylation Deficiency 53
Septic arthritis, Osteomyelitis, Arthritis, Elevated circulating C-reactive protein concentration... OMIM:619423
Diamond-Blackfan Anemia 7
Osteopenia, Increased mean corpuscular volume, Macrocytic anemia, Neutropenia, Osteoporosis OMIM:612562
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Skeletal muscle atrophy, Limb muscle weakness OMIM:612300
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Failure to thriv... ORPHA:231214
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Failure to thrive OMIM:602579
Glut1 Deficiency Syndrome 2
Reduced haptoglobin level, Tremor, Ataxia, Dystonia, Choreoathetosis OMIM:612126
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Bradykinesia, Abnormal circulating crea... ORPHA:199351
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Foot osteomyelitis, Distal amyotrophy, Decreased circulating apolipoprotein B concentration, Hypo... OMIM:256840
Schnitzler Syndrome
Myalgia, Arthralgia, Fatigue, Bone pain ORPHA:37748
Aortic Arch Interruption
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Shock, Blood pressure su... ORPHA:2299
Madras Motor Neuron Disease
Distal amyotrophy, Facial palsy ORPHA:137867
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Congenital diaphragmatic hernia OMIM:606164
Congenitally Corrected Transposition Of The Great Arteries
Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg... ORPHA:216694
Zaki Syndrome
Spastic gait, Hypotonia, Congenital diaphragmatic hernia, Hypertonia OMIM:619648
Emanuel Syndrome
Recurrent otitis media, Hypotonia, Congenital diaphragmatic hernia, Recurrent sinusitis, Astigmat... OMIM:609029
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia ORPHA:95706
Corticobasal Syndrome
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... ORPHA:454887
Hereditary Cryohydrocytosis With Reduced Stomatin
Cataract, Spastic paraplegia, Short neck, Hypertonia, Zonular cataract ORPHA:168577
Hsd10 Disease, Infantile Type
Optic atrophy, Hearing impairment, Hypertrophic cardiomyopathy, Abnormal circulating enzyme conce... ORPHA:391428
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Abnormal heart mo... ORPHA:464321
Long-Olsen-Distelmaier Syndrome
Low-set ears, Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, El... OMIM:620609
Alstrom Syndrome
Nephritis, Recurrent pneumonia, Otitis media, Subcapsular cataract, Chronic active hepatitis, Tub... OMIM:203800
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Flexion contracture, Limb muscle weakness, Facial diplegia, Skeletal muscle atrophy OMIM:218000
Chronic Beryllium Disease
Weight loss, Fatigue ORPHA:133
Alport Syndrome
Nephritis, Posterior subcapsular cataract, Anterior lenticonus, Abnormal corneal endothelium morp... ORPHA:63
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Congenital Disorder Of Glycosylation, Type Iie
Secundum atrial septal defect, Skeletal muscle atrophy, Decreased liver function, Congestive hear... OMIM:608779
Xfe Progeroid Syndrome
Hypoalbuminemia, Failure to thrive, Corneal scarring, Absence of subcutaneous fat, Cachexia, Enam... OMIM:610965
Pseudohypoparathyroidism Type 1C
Hyperphosphatemia, Calcinosis, Short metacarpal, Broad distal phalanx of the thumb, Short 3rd met... ORPHA:79444
Oculocerebrocutaneous Syndrome
Iris coloboma, Congenital diaphragmatic hernia, Corneal opacity ORPHA:1647
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Elevated circulating C-reactive protein concentration, Abnormal circulating interleukin concentra... ORPHA:85435
Retinitis Pigmentosa 86
Optic disc pallor, Cortical cataract OMIM:618613
Rett Syndrome
Prolonged QTc interval, Skeletal muscle atrophy, Abnormal T-wave OMIM:312750
Idiopathic/Heritable Pulmonary Arterial Hypertension
Chest pain, Fatigue, Right ventricular dilatation ORPHA:422
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... OMIM:124000
Mucopolysaccharidosis, Type Vii
Hearing impairment, Cardiomyopathy, Recurrent otitis media, Abnormal heart valve morphology, Redu... OMIM:253220
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Skeletal muscle atrophy ORPHA:31
Niemann-Pick Disease, Type A
Prolonged neonatal jaundice, Elevated circulating aspartate aminotransferase concentration, Skele... OMIM:257200
Spermatogenic Failure 14
Azoospermia, Male infertility, Round spermatid arrest OMIM:615842
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Hypertrophic cardiomyopathy OMIM:614053
Mohr-Tranebjaerg Syndrome
Optic atrophy, Prelingual sensorineural hearing impairment, Abnormality of somatosensory evoked p... ORPHA:52368
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Left ventricular noncomp... OMIM:300967
Spastic Paraplegia 39, Autosomal Recessive
Distal lower limb muscle weakness, Distal amyotrophy OMIM:612020
15Q24 Microdeletion Syndrome
Hypotonia, Congenital diaphragmatic hernia ORPHA:94065
Allan-Herndon-Dudley Syndrome
Prolonged neonatal jaundice, Flexion contracture, Skeletal muscle atrophy, Limb hypertonia ORPHA:59
Tick-Borne Encephalitis
Tongue fasciculations, Skeletal muscle atrophy, Somatic sensory dysfunction, Incoordination, Spee... ORPHA:297
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr... OMIM:615745
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Increased serum beta-hexosaminidase, Recurrent pneumonia, Congestive heart ... OMIM:252500
Non-Functioning Paraganglioma
Chest pain, Weight loss, Episodic abdominal pain, Fatigue ORPHA:94080
Thyroid Hemiagenesis
Macroglossia, Fatigue, Umbilical hernia ORPHA:95719
Spinocerebellar Ataxia Type 18
Skeletal muscle atrophy ORPHA:98771
Combined Oxidative Phosphorylation Deficiency 38
Hypertrophic cardiomyopathy, Hyperalaninemia, Wolff-Parkinson-White syndrome OMIM:618378
X-Linked Sideroblastic Anemia
Fatigue ORPHA:75563
Cog8-Cdg
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy ORPHA:95428
Juvenile Polyposis Of Infancy
Hypoalbuminemia, Subcutaneous lipoma, Cachexia, Anemia, Refractory anemia ORPHA:79076
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Skeletal muscle atrophy OMIM:618862
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Optic atrophy, Decreased liver function, Hypertrophic cardiomyopathy, Sensorineural hearing impai... OMIM:220110
Acth-Independent Macronodular Adrenal Hyperplasia
Hypertension, Skeletal muscle atrophy OMIM:219080
Spinal muscular atrophy, type I, with congenital bone fractures
Generalized amyotrophy, Flexion contracture, Decreased muscle mass, Acute infantile spinal muscul... OMIM:271225
Babesiosis
Myalgia, Arthralgia, Fatigue ORPHA:108
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Hypogonadism, Hip contracture, Myopathy, Flexion contracture ORPHA:3042
Hereditary Methemoglobinemia
Methemoglobinemia, Small for gestational age ORPHA:621
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Failure to thrive, Hyperammonemia, Decreased serum zinc, Conjugated hyperbilirub... OMIM:617093
Combined Oxidative Phosphorylation Deficiency 9
Elevated gamma-glutamyltransferase level, Hypertrophic cardiomyopathy, Elevated circulating aspar... OMIM:614582
Meningioma
Increased circulating prolactin concentration, Lower limb muscle weakness, Neoplasm of the poster... ORPHA:2495
Dyskeratosis Congenita, Autosomal Dominant 1
Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An... OMIM:127550
Hsd10 Mitochondrial Disease
Optic atrophy, Hypertrophic cardiomyopathy, Sensorineural hearing impairment, Elevated circulatin... OMIM:300438
Fabry Disease
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Bundle branch bloc... ORPHA:324
Mitochondrial Complex I Deficiency, Nuclear Type 22
Hypertrophic cardiomyopathy OMIM:618243
Combined Oxidative Phosphorylation Deficiency 32
Spasticity, Tremor, Joint contracture, Dystonia, Choreoathetosis OMIM:617664
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:618022
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalaninemia, Bradyc... OMIM:614702
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Infantile Sialic Acid Storage Disease
Congestive heart failure, Splenomegaly, Cardiomegaly, Hepatomegaly, Conjugated hyperbilirubinemia OMIM:269920
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly... ORPHA:93476
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita... ORPHA:70591
Ataxia-Telangiectasia-Like Disorder 1
Telangiectasia, Distal amyotrophy OMIM:604391
Ataxia-Telangiectasia-Like Disorder 2
Conjunctival telangiectasia, Congenital diaphragmatic hernia, Joint contracture OMIM:615919
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Decreased circulating carnitine concentration, Skeletal muscle atrophy, Propionyl-CoA carboxylase... OMIM:210210
Cantu Syndrome
Congenital hypertrophy of left ventricle, Large for gestational age, Cardiomegaly, Bicuspid aorti... OMIM:239850
Cortisone Reductase Deficiency 1
Obesity, Acne OMIM:604931
L1 Syndrome
Skeletal muscle atrophy ORPHA:275543
Combined Oxidative Phosphorylation Deficiency 7
Facial paralysis, Facial diplegia, Skeletal muscle atrophy OMIM:613559
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Cardiac arrest, Decreased circulating carnitine concentration, Brady... OMIM:618235
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, Decreased muscle mass, Abnormal heart morpholo... ORPHA:171929
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Takotsubo cardiomyopathy ORPHA:363549
8P23.1 Microdeletion Syndrome
Low-set ears, Hypoplastic left heart, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Obesity, ... ORPHA:251071
Prolactinoma
Central adrenal insufficiency, Decreased fertility in females, Elevated circulating growth hormon... ORPHA:2965
Insulinoma
Increased body weight, Paresthesia, Fatigue, Abnormality of pain sensation ORPHA:97279
Unclassified Myelodysplastic Syndrome
Night sweats, Fatigue ORPHA:98827
Wilson Disease
Increased body weight, Proximal muscle weakness in lower limbs, Weight loss, Failure to thrive ORPHA:905
Ataxia-Oculomotor Apraxia 3
Distal amyotrophy, Elevated circulating alpha-fetoprotein concentration OMIM:615217
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Chronic fatigue, Bone pain OMIM:610539
Hurler Syndrome
Abnormal nerve conduction velocity, Hearing impairment, Cardiomyopathy, Camptodactyly of finger, ... ORPHA:93473
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Congenital diaphragmatic hernia ORPHA:2063
Naxos Disease
Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ... ORPHA:34217
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hepatic failure, Cardiomyopathy, Intracerebral ... ORPHA:228308
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Palpitations, Syncope, Tachycardia, Increased C-peptide level, Decre... ORPHA:276556
Familial Cold Autoinflammatory Syndrome 1
Arthralgia, Myalgia, Fatigue, Chills OMIM:120100
Heart Block, Congenital
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... OMIM:234700
Lethal Congenital Contracture Syndrome Type 1
Skeletal muscle atrophy ORPHA:1486
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Chronic fatigue OMIM:234810
Cardiomyopathy, Dilated, 2F
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:619747
Mucopolysaccharidosis Type 1
Optic atrophy, Abnormal tendon morphology, Hearing impairment, Congestive heart failure, Hypertro... ORPHA:579
Adiposis Dolorosa
Arthralgia, Obesity, Paresthesia, Fatigue ORPHA:36397
Vitreoretinochoroidopathy
Microcornea, Developmental cataract, Pulverulent cataract OMIM:193220
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia,... OMIM:617145
Spermatogenic Failure 28
Non-obstructive azoospermia, Male infertility OMIM:618086
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Distal lower limb amyotrophy, Distal amyotrophy, Multiple joint contractures ORPHA:320406
Kikuchi-Fujimoto Disease
Vasculitis, Malar rash, Skin rash, Pustule, Vasculitis in the skin, Myocarditis ORPHA:50918
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Fatigue, Failure to thrive ORPHA:99931
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect OMIM:616277
African Trypanosomiasis
Myelitis, Second degree atrioventricular block, Third degree atrioventricular block, Keratitis, C... ORPHA:3385
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Optic atrophy, Decreased circulating IgG level, Congestive heart failure, Hypert... ORPHA:505248
Giant Cell Arteritis
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:397
Liver Disease, Severe Congenital
Failure to thrive, Increased circulating ferritin concentration, Umbilical hernia, Leukopenia, Hy... OMIM:619991
Japanese Encephalitis
Skeletal muscle atrophy, Pill-rolling tremor, Elbow flexion contracture, Cogwheel rigidity, Myocl... ORPHA:79139
Lowry-Maclean Syndrome
Corneal opacity, Congenital diaphragmatic hernia, Developmental glaucoma, Megalocornea ORPHA:2409
Hyperglycinemia, Lactic Acidosis, And Seizures
Hypertrophic cardiomyopathy, Joint contracture OMIM:614462
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated circulating hepatic transaminase concentration, Hyperprolinemia, Cardiomegaly, Pulmonary... OMIM:619064
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Low-set ears, Optic atrophy, Hypertrophic cardiomyopathy, Gait ataxia, Atrial septal defect, Hepa... OMIM:619383
Matthew-Wood Syndrome
Hypotonia, Congenital diaphragmatic hernia ORPHA:2470
Absence Of The Pulmonary Artery
Recurrent pneumonia, Atrial flutter, Abnormal hemidiaphragm morphology, Congestive heart failure,... ORPHA:980
Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia, Arrhythmia, Hypertension, Cardiomyopathy ORPHA:3222
Cholestasis-Lymphedema Syndrome
Abdominal pain, Multiple lipomas, Fatigue, Bone pain ORPHA:1414
Interatrial Communication
Atrial flutter, Congestive heart failure, Palpitations, Right axis deviation, Pulmonary arterial ... ORPHA:1478
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Fatigue, Torticollis, Ataxia OMIM:617186
Renpenning Syndrome
Skeletal muscle atrophy ORPHA:3242
Neuroblastoma
Antalgic gait, Weight loss, Fatigue, Ataxia, Bone pain ORPHA:635
Trisomy 17P
Aortic valve stenosis, Hypoplastic left heart, Skeletal muscle atrophy, Macroglossia, Flexion con... ORPHA:261290
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Elevated circulating creatine kinase concentration, Facial diplegia, Methylmalonic acidemia, Skel... OMIM:612073
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity OMIM:618406
Pericardial And Diaphragmatic Defect
Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm ORPHA:2847
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Palpitations, Syncope, Tachycardia, Increased C-peptide level, Decre... ORPHA:276575
Thyroid Hypoplasia
Macroglossia, Fatigue ORPHA:95720
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Cardiomyopathy, Hyperammonemia, Splenomegaly, Pancreatitis, Hepatomegaly, Choreoat... ORPHA:79312
Arachnoiditis
Arthralgia, Paresthesia, Fatigue ORPHA:137817
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Hypertrophic cardiomyopathy OMIM:617184
Autosomal Agammaglobulinemia
Cellulitis, Fatigue, Failure to thrive ORPHA:33110
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Abnormal circulating interleukin concentration, Hepatic failure, Increased circulating lactate de... ORPHA:158057
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis OMIM:607685
Infantile Liver Failure Syndrome 2
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Acute hepatic failure, H... OMIM:616483
Prune1-Related Neurological Syndrome
Low-set ears, Optic atrophy, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase co... ORPHA:544469
Adrenomyeloneuropathy
Spastic gait, Leg muscle stiffness, Impaired continence, Back pain, Distal lower limb muscle weak... ORPHA:139399
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Oligozoospermia, Male infertility ORPHA:48
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Cardiomyopathy, Splenomegaly, Sensorineural hearing impairment, Hyperprolinemia, Hyperalaninemia,... OMIM:619046
Hepatitis, Fulminant Viral, Susceptibility To
Fatigue OMIM:618549
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy OMIM:520000
Cronkhite-Canada Syndrome
Abdominal pain, Cachexia, Fatigue ORPHA:2930
Intellectual Disability-Strabismus Syndrome
Joint contracture of the hand, Spasticity, Congenital diaphragmatic hernia, Short neck, Infantile... ORPHA:363528
Dystonia 2, Torsion, Autosomal Recessive
Blepharospasm, Torsion dystonia, Tremor, Torticollis OMIM:224500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Limb-girdle muscular dystrophy, Speech apraxia, Chorea, Tremor, Elevated circulating creatine kin... OMIM:615356
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Hypotriglyceridemia, Abnormal circulating lipid concentration, Leukopenia, Decre... ORPHA:2298
New-Onset Refractory Status Epilepticus
EEG with frontal epileptiform discharges, Abnormal circulating interleukin concentration, EEG wit... ORPHA:363558
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial node ori... ORPHA:398124
X-Linked Agammaglobulinemia
Cellulitis, Weight loss, Fatigue, Failure to thrive ORPHA:47
Combined Oxidative Phosphorylation Defect Type 7
Distal amyotrophy, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weaknes... ORPHA:254930
Aggressive Systemic Mastocytosis
Arthralgia, Weight loss, Constitutional symptom, Fatigue, Abdominal pain, Abdominal cramps, Bone ... ORPHA:98850
Kaposi Sarcoma
Weight loss, Fatigue ORPHA:33276
Combined Oxidative Phosphorylation Deficiency 3
Optic atrophy, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Hyperammonemia, Rh... OMIM:610505
Fetal Alcohol Syndrome
Congenital diaphragmatic hernia ORPHA:1915
Immunodeficiency 22
Recurrent upper respiratory tract infections, Pericarditis, Recurrent lower respiratory tract inf... OMIM:615758
Myasthenic Syndrome, Congenital, 20, Presynaptic
Arthrogryposis multiplex congenita, Facial palsy, Skeletal muscle atrophy OMIM:617143
Axial Mesodermal Dysplasia Spectrum
Short neck, Limbal dermoid, Congenital diaphragmatic hernia ORPHA:1834
Mitochondrial Complex I Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy OMIM:618229
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Cardiomyopathy, Situs inversus totalis, Sensorineural hearing impairment, Ventricu... OMIM:249270
Nipah Virus Disease
Myalgia, Fatigue ORPHA:99825
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia OMIM:620367
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Small for gestational age, Failure to thrive, Elevated circulating creatine kina... OMIM:619055
Fucosidosis
Low-set ears, Hearing impairment, Reduced circulating alpha-L-fucosidase activity, Splenomegaly, ... OMIM:230000
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc... ORPHA:99956
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Knee flexion contracture, Ventricular septal defect, Atrial septal defec... ORPHA:435638
Panhypophysitis
Increased circulating prolactin concentration, Abnormal posterior pituitary morphogenesis, Decrea... ORPHA:95513
Mucolipidosis Type Ii
Abnormal atrioventricular valve physiology, Aortic regurgitation, Conductive hearing impairment, ... ORPHA:576
Noonan Syndrome 11
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis OMIM:618499
Amyloidosis, Hereditary Systemic 1
Hearing impairment, Cardiomyopathy, Limb ataxia, Positive Romberg sign, Sensorineural hearing imp... OMIM:105210
Costello Syndrome
Low-set, posteriorly rotated ears, Large earlobe, Hypertrophic cardiomyopathy, Thickened Achilles... ORPHA:3071
Gm1 Gangliosidosis Type 1
Low-set ears, Hearing impairment, Cardiomyopathy, Aspiration pneumonia, Hepatosplenomegaly, Decre... ORPHA:79255
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Cardiogenic shock, Muscular ventricular septal defect, Tricuspid regurgit... OMIM:619371
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extrasystoles, Ab... ORPHA:37553
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Upper limb muscle weakness, Low... OMIM:620538
Familial Peripheral Male-Limited Precocious Puberty
Oligozoospermia, Male infertility ORPHA:3000
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Obesity And Hypopigmentation
Overgrowth, Obesity OMIM:620195
Autosomal Recessive Spastic Paraplegia Type 55
Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness, Foot dorsiflexor... ORPHA:320375
Histiocytosis-Lymphadenopathy Plus Syndrome
Hearing impairment, Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolaps... OMIM:602782
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Congenital diaphragmatic hernia ORPHA:1120
Amyotrophic Lateral Sclerosis 2, Juvenile
Distal amyotrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Retrocollis, Hand muscl... OMIM:205100
Hurler Syndrome
Aortic regurgitation, Hearing impairment, Cardiomyopathy, Recurrent otitis media, Hepatosplenomeg... OMIM:607014
Leukodystrophy, Hypomyelinating, 10
Skeletal muscle atrophy OMIM:616420
Familial Cutaneous Collagenoma
Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure ORPHA:53296
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy ORPHA:295
Lipodystrophy, Congenital Generalized, Type 1
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Generalized muscular app... OMIM:608594
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Palpitations, Syncope, Tachycardia, Increased C-peptide level ORPHA:276580
Spastic Paraplegia 51, Autosomal Recessive
Decreased muscle mass, Facial hypotonia, Short stature, Flexion contracture, Overweight OMIM:613744
Mucopolysaccharidosis Type 3
Hearing impairment, Aspiration pneumonia, Abnormal mitral valve morphology, Sensorineural hearing... ORPHA:581
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Decreased fertility... ORPHA:91347
Interstitial Cystitis
Elevated circulating C-reactive protein concentration, Abnormality of tumor necrosis factor secre... ORPHA:37202
Isolated Atp Synthase Deficiency
Optic atrophy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hypogonadism, Hyperammonemia,... ORPHA:254913
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrial septal defect OMIM:250220
Spinocerebellar Ataxia Type 1
Abnormality of masticatory muscle, Skeletal muscle atrophy ORPHA:98755
White-Sutton Syndrome
Generalized hypotonia, Hypotonia, Congenital diaphragmatic hernia, Astigmatism, Short neck, Facia... OMIM:616364
Cockayne Syndrome Type 3
Vascular calcification, Cerebellar dentate nucleus calcification, Conductive hearing impairment, ... ORPHA:90324
Liddle Syndrome
Fatigue ORPHA:526
Severe Early-Childhood-Onset Retinal Dystrophy
Posterior subcapsular cataract, Abnormal corneal endothelium morphology, Posterior synechiae of t... ORPHA:364055
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy OMIM:618683
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Elevated circulating hepatic transaminase concentration, Hyperlipidemia ORPHA:369
Hereditary Folate Malabsorption
Cerebral calcification, Cheilitis, Skeletal muscle atrophy ORPHA:90045
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Skeletal muscle atrophy, Pulmonic stenosis OMIM:615802
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,... ORPHA:615
Adenohypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95512
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Pituitary Gigantism
Hypertrophic cardiomyopathy, Tall stature, Amenorrhea, Left ventricular hypertrophy, Proportionat... ORPHA:99725
Cockayne Syndrome A
Irregular menstruation, Optic atrophy, Abnormal auditory evoked potentials, Hypogonadism, Decreas... OMIM:216400
Timothy Syndrome
Pneumonia, Atrioventricular block, Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventr... OMIM:601005
Thakker-Donnai Syndrome
Webbed neck, Short neck, Congenital diaphragmatic hernia, Hypotonia ORPHA:1780
1P36 Deletion Syndrome
Dilated cardiomyopathy, Annular pancreas, Camptodactyly of finger, Abnormal heart valve morpholog... ORPHA:1606
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Cardiomyopathy, Hyperammonemia, Pancreatitis, Ataxia, Hepatomegaly, Choreoathetosis ORPHA:27
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Hypertrophic cardiomyopathy, Facial diplegia, Dysmetria, Truncal a... OMIM:619121
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Mitral regurgitation, Right bundle branch block, Pulmonary arterial hypertensi... OMIM:614008
Mucopolysaccharidosis, Type Vi
Pneumonia, Reduced leukocyte arylsulfatase B activity, Hearing impairment, Sinus tachycardia, Car... OMIM:253200
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating copper concentration, Abnormal circulating ceruloplasmin concentration, Tric... OMIM:620306
Cyclic Vomiting Syndrome
Hearing impairment, Cardiomyopathy, Ataxia OMIM:500007
Lead Poisoning
Imbalanced hemoglobin synthesis, Decreased HDL cholesterol concentration, Cranial hyperostosis, I... ORPHA:330015
Lyme Disease
Arthralgia, Myalgia, Paresthesia, Fatigue ORPHA:91546
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Elevated circulating creatine kinase concentration, Dysmetria, Ataxia, Increased serum py... OMIM:619405
2Q37 Microdeletion Syndrome
Hypotonia, Eczematoid dermatitis, Congenital diaphragmatic hernia ORPHA:1001
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr... ORPHA:309854
Isolated Complex I Deficiency
Hypertrophic cardiomyopathy, Sensorineural hearing impairment, Ataxia, Hepatomegaly, Optic disc p... ORPHA:2609
Laubry-Pezzi Syndrome
Chest pain, Patent foramen ovale, Aortic valve prolapse, Ventricular septal defect, Bicuspid aort... ORPHA:99094
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility OMIM:277180
White-Sutton Syndrome
Optic atrophy, Congenital diaphragmatic hernia, Astigmatism, Short neck, Infantile muscular hypot... ORPHA:468678
Malignant Atrophic Papulosis
Abnormal pericardium morphology, Chest pain, Weight loss, Abnormal myocardium morphology, Fatigue... ORPHA:679
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Calcinosis, Short metacarpal, Broad distal phalanx of the thumb, Short 3rd met... ORPHA:79443
Developmental And Epileptic Encephalopathy 51
Skeletal muscle atrophy OMIM:617339
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Failure to thrive, Hypernatremia OMIM:615508
Cartilage-Hair Hypoplasia
Cardiomyopathy, Low-set, posteriorly rotated ears, Hypocalcemia, Aganglionic megacolon, Aplasia/H... ORPHA:175
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Arterial Tortuosity Syndrome
Keratoconus, Generalized hypotonia, Hypotonia, Astigmatism, Congenital diaphragmatic hernia, Flex... OMIM:208050
Acute Transverse Myelitis
Impaired vibratory sensation, Somatic sensory dysfunction, Upper limb muscle weakness, Dissociate... ORPHA:139417
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased body weight, Fatigue, Abdominal obesity OMIM:615954
Immunodeficiency 70
Chronic fatigue, Achalasia OMIM:618969
Familial Isolated Restrictive Cardiomyopathy
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Pulmonary venous hype... ORPHA:75249
Intrahepatic Cholestasis Of Pregnancy
Abnormal circulating interleukin concentration, Hyperbilirubinemia, Tremor, Increased serum bile ... ORPHA:69665
Lipodystrophy, Congenital Generalized, Type 2
Elevated circulating hepatic transaminase concentration, Generalized muscular appearance from bir... OMIM:269700
Spermatogenic Failure 13
Azoospermia, Male infertility OMIM:615841
Werner Syndrome
Subcutaneous calcification, Skeletal muscle atrophy, Chondrocalcinosis, Congestive heart failure,... ORPHA:902
Mend Syndrome
Low-set ears, Aortic valve stenosis, Abnormal auditory evoked potentials, Abnormal heart morpholo... ORPHA:401973
Spinocerebellar Ataxia 36
Skeletal muscle atrophy OMIM:614153
Friedreich Ataxia
Impaired vibratory sensation, Optic atrophy, Decreased pyruvate carboxylase activity, Decreased a... OMIM:229300
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Abnormal helix morphology, Cardiomyopathy, Camptodactyly of toe, Cardiomegaly,... ORPHA:158687
Deafness-Lymphedema-Leukemia Syndrome
Weight loss, Fatigue ORPHA:3226
Emanuel Syndrome
Generalized hypotonia, Recurrent otitis media, Congenital diaphragmatic hernia, Astigmatism, Mult... ORPHA:96170
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Hyperalaninemia, Failure to thrive OMIM:618329
Angiostrongyliasis
Hyperesthesia, Neck pain, Paresthesia, Myalgia, Pain, Arthralgia, Fatigue, Abdominal pain ORPHA:74
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Reduced natural killer cell count, Osteomalacia, Decreased proportion of naive T... OMIM:619381
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Vasculitis, Hematochezia, Pneumonia, Atopic dermatitis, Hepatitis, Increased ... OMIM:615846
Cardiomyopathy, Familial Restrictive, 6
Tricuspid regurgitation, Pulmonary insufficiency, Restrictive cardiomyopathy, Pulmonic stenosis OMIM:619433
Developmental And Epileptic Encephalopathy 75
Prolonged neonatal jaundice, Decreased liver function, Cardiomyopathy OMIM:618437
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia ORPHA:2075
Neurooculocardiogenitourinary Syndrome
Low-set ears, Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Sensorine... OMIM:618652
Mucopolysaccharidosis, Type Iiib
Hearing impairment, Splenomegaly, Cardiomegaly, Reduced tissue alpha-N-acetylglucosaminidase acti... OMIM:252920
Autoinflammatory Disease, Systemic, With Vasculitis
Elevated gamma-glutamyltransferase level, Hepatosplenomegaly, Abnormal circulating IgG level, Ele... OMIM:620376
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Spermatogenic Failure, X-Linked, 4
Azoospermia, Male infertility OMIM:301077
Autosomal Recessive Spondylocostal Dysostosis
Short neck, Congenital diaphragmatic hernia, Camptodactyly of finger ORPHA:2311
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... OMIM:620135
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Skin rash, Abnormality of visual evoked p... OMIM:617523
Marbach-Rustad Progeroid Syndrome
Pulmonary insufficiency, Right bundle branch block OMIM:619322
Pituitary Adenoma 4, Acth-Secreting
Hypertension, Skeletal muscle atrophy, Hypokalemia OMIM:219090
Juvenile Polyposis Syndrome
Failure to thrive, Multiple lipomas, Anemia, Rectocele, Hypoproteinemia ORPHA:2929
Mulibrey Nanism
Congestive heart failure, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis OMIM:253250
Leber Congenital Amaurosis 15
Optic disc pallor, Posterior subcapsular cataract, Peripapillary atrophy OMIM:613843
Reactive Arthritis
Aortic regurgitation, Inflammation of the large intestine, Recurrent urinary tract infections, Os... ORPHA:29207
Klatskin Tumor
Abdominal pain, Weight loss, Fatigue ORPHA:99978
Ziegler-Huang Syndrome
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi... ORPHA:555874
Proximal 16P11.2 Microdeletion Syndrome
Dystonia, Congenital diaphragmatic hernia ORPHA:261197
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Hyperalaninemia, Cardiomyopathy, Elevated circulating creatine kinase concentration ORPHA:324525
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials, Ataxia OMIM:619260
Necrotizing Enterocolitis
Abnormal heart morphology, Abdominal rigidity, Fatigue, Small for gestational age ORPHA:391673
Borjeson-Forssman-Lehmann Syndrome
Camptodactyly of toe, Skeletal muscle atrophy ORPHA:127
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Splenomegaly, Hypercholesterolemia, Os... ORPHA:186
Encephalitis Lethargica
Parkinsonism, Upper limb muscle weakness, Tremor, Increased circulating antibody level ORPHA:83600
Multiple Pterygium-Malignant Hyperthermia Syndrome
Skeletal muscle atrophy, Camptodactyly of finger, Abnormal circulating lactate dehydrogenase conc... ORPHA:2215
Gaucher Disease Type 3
Aortic valve calcification, Abnormal heart valve morphology, Mitral valve calcification, Abnormal... ORPHA:77261
Spinocerebellar Ataxia Type 36
Skeletal muscle atrophy ORPHA:276198
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy OMIM:612989
Aicardi-Goutieres Syndrome 1
Vasculitis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Intracerebra... OMIM:225750
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macrotia, Congestive heart failure OMIM:300886
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Gait ataxia, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Exaggerated star... OMIM:618056
Erythrocytosis, Familial, 2
Fatigue, Failure to thrive OMIM:263400
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Coronal craniosynostosis, Joint contracture of the hand, Umbilical hernia, Campt... OMIM:235510
Williams Syndrome
Mitral regurgitation, Myopathy, Sensorineural hearing impairment, Ventricular septal defect, Bicu... ORPHA:904
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Hearing impairment, Medial calcification of large arteries, Adrenal calc... ORPHA:51608
Sheehan Syndrome
Central adrenal insufficiency, Arthralgia, Decreased serum estradiol, Breast hypoplasia, Decrease... ORPHA:91355
Simple Cryoglobulinemia
Vasculitis, Gastrointestinal hemorrhage, Nephritis, Viral hepatitis, Congestive heart failure, Ab... ORPHA:91139
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Abnormality of masseter mu... ORPHA:314621
Galloway-Mowat Syndrome 3
Hypoalbuminemia, Camptodactyly, Hiatus hernia, Failure to thrive OMIM:617729
Rothmund-Thomson Syndrome, Type 2
Cataract, Microcornea, Zonular cataract OMIM:268400
Sialidosis Type 1
Skeletal muscle atrophy ORPHA:812
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility OMIM:617091
Seckel Syndrome 9
Congenital diaphragmatic hernia OMIM:616777
Mucopolysaccharidosis Type 2, Severe Form
Optic atrophy, Otosclerosis, Conductive hearing impairment, Cardiomyopathy, Camptodactyly of fing... ORPHA:217085
Lynch Syndrome
Cardiac diverticulum, Gait disturbance, Weight loss, Fatigue, Abdominal pain, Flexion contracture ORPHA:144
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Neonatal insulin-dependent diabetes mellitus, Anterior pituitary agenesis, Hypoplastic tricuspid ... ORPHA:2255
Erdheim-Chester Disease
Abnormal pericardium morphology, Abnormal aortic valve morphology, Weight loss, Fatigue, Ataxia, ... ORPHA:35687
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Diastasis recti, Cardiomegaly, Overgrowth, Hepatomegaly, ... OMIM:130650
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Low-set ears, Elbow flexion contracture, Congenital diaphragmatic hernia, Mitral valve prolapse, ... OMIM:245600
Paroxysmal Nocturnal Hemoglobinuria 2
Abdominal pain, Arthralgia, Fatigue OMIM:615399
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Hyperbilirubinemia, Hypertyrosinemia, Con... OMIM:617156
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Overweight, Persistence of hemoglobin F, Umbilical hernia OMIM:619769
Multiple System Atrophy 1, Susceptibility To
Skeletal muscle atrophy, Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Bradykinesia OMIM:146500
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Hyperlipidemia, Proximal muscle weakness, Increased body weight, Proximal amyotrophy, Abdominal o... ORPHA:189427
Trisomy 1Q
Congenital diaphragmatic hernia, Camptodactyly of finger ORPHA:261344
Parkinsonism-Dystonia 3, Childhood-Onset
Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Ataxia, Dystonia OMIM:619738
Mucopolysaccharidosis Type 2, Attenuated Form
Optic atrophy, Otosclerosis, Conductive hearing impairment, Cardiomyopathy, Camptodactyly of fing... ORPHA:217093
Neutrophilic Dermatosis, Acute Febrile
Dilated cardiomyopathy, Increased circulating interleukin 6 concentration, Acne inversa, Pannicul... OMIM:608068
Spondyloocular Syndrome
Webbed neck, Posterior subcapsular cataract, Cataract OMIM:605822
Osteopetrosis, Autosomal Dominant 3
Asthenia, Fatigue OMIM:618107
Agel Amyloidosis
Hearing impairment, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Arrhyth... ORPHA:85448
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypertrophic cardiomyopathy, Optic atrophy, Athetosis OMIM:618241
Immunodeficiency 31C
Weight loss, Skeletal muscle atrophy, Fatigue OMIM:614162
Cutis Laxa, Autosomal Recessive, Type Ia
Hypotonia, Congenital diaphragmatic hernia OMIM:219100
Trisomy 18
Webbed neck, Microcornea, Cataract, Camptodactyly of finger, Hypotonia, Congenital diaphragmatic ... ORPHA:3380
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Skeletal muscle atrophy ORPHA:168563
Acute Interstitial Pneumonia
Chest pain, Myalgia, Arthralgia, Fatigue, Pericardial effusion ORPHA:79126
Kufor-Rakeb Syndrome
Leg muscle stiffness, Difficulty walking, Gait disturbance, Fatigue, Hypomimic face, Urinary inco... ORPHA:306674
Machado-Joseph Disease Type 1
Distal lower limb amyotrophy, Skeletal muscle atrophy ORPHA:276238
Machado-Joseph Disease Type 2
Distal lower limb amyotrophy, Skeletal muscle atrophy ORPHA:276241
Beckwith-Wiedemann Syndrome
Otosclerosis, Visceromegaly, Hearing impairment, Abnormal earlobe morphology, Hypertrophic cardio... ORPHA:116
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume OMIM:619774
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:638
Vici Syndrome
Optic atrophy, Decreased circulating IgG level, Cardiomyopathy, Decreased circulating IgG2 level,... ORPHA:1493
Idiopathic Pulmonary Fibrosis
Exercise intolerance, Fatigue ORPHA:2032
Marburg Hemorrhagic Fever
Hypoalbuminemia, Neutrophilia in presence of infection, Elevated circulating creatinine concentra... ORPHA:99826
Pediatric Hepatocellular Carcinoma
Abdominal pain, Epigastric pain, Fatigue ORPHA:33402
Hypotrichosis And Recurrent Skin Vesicles
Abnormal EKG OMIM:613102
Cold Agglutinin Disease
Arthralgia, Fatigue, Back pain ORPHA:56425
Refractory Anemia
Fatigue ORPHA:98826
Craniolenticulosutural Dysplasia
Optic atrophy, Posterior Y-sutural cataract, Punctate cataract OMIM:607812
Mucopolysaccharidosis Type 2
Optic atrophy, Hip osteoarthritis, Otosclerosis, Conductive hearing impairment, Contractures of t... ORPHA:580
Camurati-Engelmann Disease
Optic atrophy, Skeletal muscle atrophy, Hearing impairment, Hypertrophic cardiomyopathy, Slender ... ORPHA:1328
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Cardiac Diverticulum
Aortic valve stenosis, Congestive heart failure, Abnormal EKG, Palpitations, Diastasis recti, Mit... ORPHA:1686
Isolated Thyroid-Stimulating Hormone Deficiency
Macroglossia, Fatigue, Failure to thrive, Umbilical hernia ORPHA:90674
Serotonin Syndrome
Myoclonus, Rhabdomyolysis, Rigidity, Tremor, Clonus, Hypertonia ORPHA:43116
Wiedemann-Rautenstrauch Syndrome
Low-set ears, Optic atrophy, Absent earlobe, Camptodactyly of finger, Recurrent otitis media, Sle... ORPHA:3455
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Gait ataxia, Myoclonus, Tremor, Rigidity, Dystonia, Parkinsonism, Head... OMIM:618877
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Reduced circulating transferrin concentration, Hypocholesterolemia, Lymphopenia,... ORPHA:90363
Diamond-Blackfan Anemia 10
Morgagni diaphragmatic hernia, Congenital diaphragmatic hernia OMIM:613309
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Coarse metaphyseal trabecularization, Ectopic anterior pituitary gland, Flared metaphysis, Ventri... OMIM:620558
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Increased body weight, Large for gestational age, Fatigue ORPHA:263455
Hennekam-Beemer Syndrome
Abdominal pain, Fatigue, Failure to thrive, Camptodactyly of finger ORPHA:2135
Rett Syndrome
Increased serum pyruvate, Skeletal muscle atrophy, Hyperammonemia, Cholecystitis ORPHA:778
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Flexion contracture, Skeletal muscle atrophy, Limb hypertonia ORPHA:481152
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Dilated cardiomyopathy, Decreased circulating carnit... ORPHA:71212
Autosomal Recessive Ataxia, Beauce Type
Skeletal muscle atrophy, Lower limb muscle weakness ORPHA:88644
Peroxisome Biogenesis Disorder 9B
Sensorineural hearing impairment, Elevated circulating phytanic acid concentration, Cardiomyopath... OMIM:614879
Mowat-Wilson Syndrome
Cataract, Microcornea, Abnormal enteric ganglion morphology, Ectopia pupillae, Recurrent otitis m... OMIM:235730
Glycogen Storage Disease Ixa1
Fatigue OMIM:306000
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia OMIM:612530
Alternating Hemiplegia Of Childhood
Cardiomyopathy, Abnormal T-wave, Chorea, Cardiac conduction abnormality, Arrhythmia, Abnormal aut... ORPHA:2131
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss, Fatigue, Bone pain ORPHA:324964
Acute Promyelocytic Leukemia
Gangrene, Weight loss, Fatigue, Abdominal pain, Bone pain ORPHA:520
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal circulating interleukin concentration, Elevated circulating hepatic transaminase concent... ORPHA:79124
Acute Monoblastic/Monocytic Leukemia
Weight loss, Fatigue ORPHA:514
Leopard Syndrome 1
Third degree atrioventricular block, Hypertrophic cardiomyopathy, Bundle branch block, Scapular w... OMIM:151100
Fryns Syndrome
Aganglionic megacolon, Short neck, Congenital diaphragmatic hernia, Corneal opacity ORPHA:2059
Castleman Disease
Restrictive cardiomyopathy, Flank pain, Weight loss, Fatigue, Constitutional symptom, Abdominal pain ORPHA:160
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Peters anomaly, Congenital diaphragmatic hernia, Sclerocornea, Iris coloboma OMIM:309801
Frontometaphyseal Dysplasia 1
Cor pulmonale, Ankle flexion contracture, Hypoplasia of the musculature, Skeletal muscle atrophy,... OMIM:305620
Gaucher Disease, Perinatal Lethal
Low-set ears, Hepatic failure, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Arth... OMIM:608013
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cardiomyopathy, Hyperglycinemia, Hyperammonemia, Cerebellar hemorrhage, Pancreatitis, Tubulointer... OMIM:251000
Craniofrontonasal Syndrome
Axillary pterygium, Webbed neck, Generalized hypotonia, Hypotonia, Congenital diaphragmatic herni... OMIM:304110
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Resting tremor, Postural tremor, Gait ataxia, Cogwheel rigidity, Tremor, Rig... OMIM:600116
Multiple Pterygium Syndrome, Escobar Variant
Axillary pterygium, Intercrural pterygium, Popliteal pterygium, Neck pterygia, Pterygium, Congeni... OMIM:265000
Granulomatosis With Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Cerebral ischemia, Otitis media, Skin rash, H... ORPHA:900
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Azoospermia, Streak ovary, Abnormal spermatogenesis, Male ... ORPHA:261529
Eisenmenger Syndrome
Right ventricular failure, Right-to-left shunt, Tricuspid regurgitation, Palpitations, Supraventr... ORPHA:97214
7Q31 Microdeletion Syndrome
Skeletal muscle atrophy, Atrial septal defect, Torticollis ORPHA:251061
Solitary Fibrous Tumor
Night sweats, Weight loss, Low back pain, Fatigue ORPHA:2126
Postinfectious Vasculitis
Inflammatory abnormality of the skin, Increased circulating antibody level, Abnormal circulating ... ORPHA:48435
Parkes Weber Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Somatic sensory dysfunction, Lower... ORPHA:90307
Craniorachischisis
Congenital diaphragmatic hernia ORPHA:63260
Simpson-Golabi-Behmel Syndrome
Abnormal helix morphology, Cardiomyopathy, Camptodactyly of finger, Low-set, posteriorly rotated ... ORPHA:373
Aymé-Gripp Syndrome
Cataract, Megalocornea, Congenital diaphragmatic hernia, Developmental cataract, Infantile muscul... ORPHA:1272
Trichothiodystrophy
Eczematoid dermatitis, Cardiomyopathy, Panhypogammaglobulinemia, Gait ataxia, Multiple joint cont... ORPHA:33364
Knobloch Syndrome 1
Band keratopathy, Peripapillary atrophy, Iris transillumination defect, Cortical cataract, Develo... OMIM:267750
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Achilles tendon calcification, Fatigue OMIM:617994
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension ORPHA:231625
Relapsing Fever
Myalgia, Arthralgia, Fatigue, Abdominal pain, Chills ORPHA:91547
Nephronophthisis 16
Aortic valve stenosis, Pulmonic stenosis, Situs inversus totalis, Hypertrophic cardiomyopathy OMIM:615382
Galloway-Mowat Syndrome 1
Hypoalbuminemia, Joint contracture of the hand, Hiatus hernia, Camptodactyly, Small for gestation... OMIM:251300
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Recurrent pneumonia, Hearing impairment ORPHA:3137
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:618839
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Macrotia OMIM:613576
Bardet-Biedl Syndrome
Inflammation of the large intestine, Hearing impairment, Ataxia, Macrotia, Irregular menstruation... ORPHA:110
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Distal amyotrophy ORPHA:2821
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Crohn's disea... OMIM:619705
Adenylosuccinase Deficiency
Skeletal muscle atrophy OMIM:103050
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration,... OMIM:611126
Farber Disease
Hepatic failure, Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy... ORPHA:333
Brown-Vialetto-Van Laere Syndrome 1
Facial palsy, Skeletal muscle atrophy, Hand muscle atrophy OMIM:211530
Dubin-Johnson Syndrome
Abdominal pain, Fatigue ORPHA:234
Pseudoxanthoma Elasticum
Acne, Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Cerebral calcification, Skin rash,... ORPHA:758
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Pseudohypoparathyroidism, Type Ib
Obesity, Hyperphosphatemia, Hypocalcemia OMIM:603233
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Aplasia of the left hemidiaphragm ORPHA:2437
Muckle-Wells Syndrome
Myalgia, Arthralgia, Chronic fatigue OMIM:191900
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Congestive heart failure, Hypophosphatemic rickets, Carotid artery calcif... OMIM:208000
Machado-Joseph Disease Type 3
Distal lower limb amyotrophy, Skeletal muscle atrophy ORPHA:276244
Hepatorenocardiac Degenerative Fibrosis
Hypertrophic cardiomyopathy, Jaundice, Elevated circulating hepatic transaminase concentration, P... OMIM:619902
Spinocerebellar Ataxia 1
Distal amyotrophy, Skeletal muscle atrophy OMIM:164400
Evans Syndrome
Fatigue ORPHA:1959
Joubert Syndrome 32
Hypertrophic cardiomyopathy, Tall stature, Large for gestational age, Ataxia OMIM:617757
Rabson-Mendenhall Syndrome
Cardiomyopathy, Ventricular septal defect, Hypokalemia, Enlarged ovaries, Atrial septal defect, M... ORPHA:769
Autosomal Dominant Spastic Paraplegia Type 9A
Impaired vibration sensation in the lower limbs, Tremor, Babinski sign, Abnormal pyramidal sign, ... ORPHA:447753
Nance-Horan Syndrome
Posterior Y-sutural cataract, Microcornea, Developmental cataract OMIM:302350
Dysbetalipoproteinemia
Tendon xanthomatosis, Decreased HDL cholesterol concentration, Obesity, Increased LDL cholesterol... ORPHA:412
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia OMIM:611812
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Cataract, Hypotonia, Nuclear pulverulent cataract, Short neck, Sutural cataract, Camptodactyly, A... OMIM:612474
Dermochondrocorneal Dystrophy
Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities OMIM:221800
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Mosaic Trisomy 1
Elbow flexion contracture, Opacification of the corneal stroma, Congenital diaphragmatic hernia, ... ORPHA:1692
Pseudo-Torch Syndrome 3
Lymphadenitis, Increased circulating ferritin concentration, Cerebral calcification, Cardiomegaly... OMIM:618886
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Right bundle branch block OMIM:618590
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Hypotonia, Spasticity, Congenital diaphragmatic hernia, Generalized hypotonia OMIM:614080
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Expanded metatarsals with widened medullary ca... OMIM:182250
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Increased total iron binding capacity, Tremor, Rigidity, Dystonia, Abnormali... OMIM:613280
Primary Sclerosing Cholangitis
Hypoalbuminemia, Spider hemangioma, Uveitis, Elevated circulating hepatic transaminase concentrat... ORPHA:171
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Flexion contracture, Skeletal muscle atrophy OMIM:300243
Noonan Syndrome 14
Low-set ears, Aortic regurgitation, Hypertrophic cardiomyopathy, Mitral valve prolapse, Scapular ... OMIM:619745
Acro-Renal-Mandibular Syndrome
Short neck, Congenital diaphragmatic hernia ORPHA:958
Leukocyte Adhesion Deficiency
Coronal craniosynostosis, Abnormality of neutrophil physiology, Polycythemia, Impaired platelet a... ORPHA:2968
Fixed Drug Eruption
Fatigue, Chills ORPHA:293812
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Elevated circulating creatine kinase concentration, Arthrogryposis multiplex congenita, Skeletal ... OMIM:617193
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Tricuspid regurgitation, Basal ganglia calcification, Cerebral calcification, Intracerebral periv... OMIM:620371
Blue Diaper Syndrome
Increased body weight, Hypercalcemia, Hyperphosphatemia ORPHA:94086
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Eczematoid dermatitis, Abnormal circulating lipid concentration, Diastas... ORPHA:488632
Autoimmune Pulmonary Alveolar Proteinosis
Chest pain, Weight loss, Fatigue ORPHA:747
Lysinuric Protein Intolerance
Intraalveolar phospholipid accumulation, Skeletal muscle atrophy, Increased circulating ferritin ... OMIM:222700
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Posterior subcapsular cataract OMIM:271510
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Umbilical hernia, Congenital diaphragmatic hernia, Inguinal hernia, Bicu... OMIM:619656
Congenital Heart Defects And Skeletal Malformations Syndrome
Camptodactyly, Congenital diaphragmatic hernia OMIM:617602
Mycophenolate Mofetil Embryopathy
Iris coloboma, Congenital diaphragmatic hernia ORPHA:268249
Nocardiosis
Pneumonia, Sepsis, Lymphadenitis, Cutaneous abscess, Keratitis, Abnormal heart valve morphology, ... ORPHA:31204
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:615279
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hearing impairment, Macrotia, Low-set, posteriorly rotated ears, Hypertrophic cardiomyopathy, Pul... ORPHA:2701
Lymphoid Interstitial Pneumonia
Weight loss, Fatigue, Failure to thrive, Abnormality of connective tissue ORPHA:79128
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Low-set ears, Cardiomegaly, Pulmonary arterial hypertension, Hypertension, Microtia OMIM:613320
Glioblastoma
Fatigue ORPHA:360
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Atopic dermatitis, Increased circulating ferritin concentration, Subcortical white matter calcifi... ORPHA:3240
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Optic atrophy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hyperglycinemia, Ataxia, Hepa... OMIM:614299
Abcd Syndrome
Abnormal auditory evoked potentials, Hearing impairment, Large for gestational age, Aganglionic m... OMIM:600501
Focal Dermal Hypoplasia
Ectopia lentis, Hypoplasia of the iris, Camptodactyly of finger, Diastasis recti, Congenital diap... ORPHA:2092
Portal Hypertension, Noncirrhotic, 2
Fatigue OMIM:619463
Microphthalmia, Syndromic 9
Hypotonia, Generalized hypotonia, Congenital diaphragmatic hernia, Diaphragmatic eventration OMIM:601186
Infantile Spasms-Broad Thumbs Syndrome
Hypertrophic cardiomyopathy ORPHA:3173
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Abnormal circulating interleukin concentration, Lymphadenitis, Salmonella osteomyeliti... ORPHA:319552
Autosomal Recessive Spastic Paraplegia Type 11
Distal amyotrophy, Lower limb muscle weakness, Generalized limb muscle atrophy, Obesity, Overweight ORPHA:2822
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Cardiomyopathy OMIM:600721
Sporadic Pheochromocytoma/Secreting Paraganglioma
Chest pain, Weight loss, Episodic abdominal pain, Fatigue ORPHA:276621
Oligomeganephronia
Congenital diaphragmatic hernia, Optic disc coloboma ORPHA:2260
Smith-Magenis Syndrome
Increased body weight, Short stature, Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Blau Syndrome
Posterior uveitis, Keratitis, Camptodactyly of finger, Large vessel vasculitis, Skin rash, Synovi... ORPHA:90340
Gangliocytoma
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Decreased female libido, Adrenocor... ORPHA:251937
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Elevated circulating creatine kinase concentration, Arthrogryposis multiplex congenita, Recurrent... ORPHA:496641
Familial Glucocorticoid Deficiency
Failure to thrive, Hypertrophic cardiomyopathy, Episodic abdominal pain, Weight loss, Chronic fat... ORPHA:361
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Fulminant hepatic failure, Decreased 3-hydro... OMIM:231530
Donohue Syndrome
Skeletal muscle atrophy OMIM:246200
Mixed-Type Autoimmune Hemolytic Anemia
Arthralgia, Fatigue ORPHA:90036
Acquired Methemoglobinemia
Abdominal pain, Fatigue ORPHA:464453
Chromosome 15Q25 Deletion Syndrome
Webbed neck, Short neck, Congenital diaphragmatic hernia OMIM:614294
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... OMIM:264800
Macs Syndrome
Umbilical hernia, Fatigue, Decreased body weight OMIM:613075
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Mitral stenosis, Mitral valve prolapse, Ventricular septal defect, M... OMIM:616564
Pierson Syndrome
Hypoproteinemia OMIM:609049
Cyclic Neutropenia
Cellulitis, Abdominal pain, Fatigue, Bone pain ORPHA:2686
Osteogenesis Imperfecta, Type Xiii
Skeletal muscle atrophy OMIM:614856
Cahmr Syndrome
Lamellar cataract OMIM:211770
Cinca Syndrome
Myalgia, Arthralgia, Fatigue ORPHA:1451
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Flexion contracture, Skeletal muscle atrophy OMIM:300232
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatic failure, Skeletal muscle atrophy, Lower limb hypertonia, Aspiration pneumonia, Seborrheic... OMIM:301072
Menkes Disease
Atypical scarring of skin, Chondrocalcinosis, Umbilical hernia, Inguinal hernia, Hernia, Aplasia/... ORPHA:565
Osteogenesis Imperfecta
Dentinogenesis imperfecta, Exercise intolerance, Umbilical hernia, Abnormal dental enamel morphol... ORPHA:666
Primary Hyperoxaluria Type 1
Hyperoxaluria, Abnormal circulating enzyme concentration, Calcinosis ORPHA:93598
Body Mass Index Quantitative Trait Locus 19
Obesity, Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Combined Oxidative Phosphorylation Deficiency 5
Hypertrophic cardiomyopathy, Hyperammonemia OMIM:611719
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Recon Progeroid Syndrome
Keratoconjunctivitis sicca, Skeletal muscle atrophy OMIM:620370
Bohring-Opitz Syndrome
Optic atrophy, Congenital contracture, Low-set, posteriorly rotated ears, Cardiomegaly, Abnormal ... ORPHA:97297
Autosomal Recessive Spastic Paraplegia Type 9B
Skeletal muscle atrophy ORPHA:447760
Collagenoma, Familial Cutaneous
Vasculitis, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Right ventricular ... OMIM:115250
Erythrocytosis, Familial, 1
Fatigue OMIM:133100
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Obesity, Increased LDL cholesterol concentration, Hypert... OMIM:618620
Doors Syndrome
Sagittal craniosynostosis, Thrombocytosis ORPHA:79500
Coffin-Lowry Syndrome
Abnormal tricuspid valve morphology, Skeletal muscle atrophy, Abnormal aortic valve morphology, A... ORPHA:192
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Skeletal muscle atrophy, Abnormal mitral valve morphology ORPHA:1969
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Short neck, Congenital diaphragmatic hernia, Generalized hypotonia OMIM:616546
Pentalogy Of Cantrell
Congenital diaphragmatic hernia ORPHA:1335
12Q14 Microdeletion Syndrome
Skeletal muscle atrophy ORPHA:94063
Postorgasmic Illness Syndrome
Fatigue ORPHA:279947
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia OMIM:313850
Gaucher Disease
Aortic valve calcification, Abnormal pericardium morphology, Abnormal heart valve morphology, Mit... ORPHA:355
Resistance To Thyrotropin-Releasing Hormone Syndrome
Overweight, Fatigue ORPHA:99832
Cutis Laxa, Autosomal Recessive, Type Iid
Congestive heart failure, Hypertrophic cardiomyopathy, Joint contracture, Camptodactyly, Right bu... OMIM:617403
Hec Syndrome
Arrhythmia, Endocardial fibroelastosis, Cardiomyopathy ORPHA:2119
Autosomal Recessive Spastic Paraplegia Type 20
Distal amyotrophy, Skeletal muscle atrophy, Upper limb muscle weakness ORPHA:101000
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Basal ga... OMIM:133540
Stevens-Johnson Syndrome
Fatigue, Weight loss, Abnormal myocardium morphology, Abdominal pain, Sudden cardiac death ORPHA:36426
Kagami-Ogata Syndrome
Postnatal growth retardation, Large for gestational age, Diastasis recti, Overgrowth, Poor head c... ORPHA:254519
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Increased circulating interferon-gamma concentration ORPHA:85410
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Fatigue OMIM:241150
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Elevated gamma-glutamyltransferase level, Hepatic failure, Skeletal muscle atrophy, Acute hepatic... OMIM:256810
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation, Increased serum beta-hexosaminidase, Cardiomyopathy, Increased iduronate su... OMIM:252600
Psoriasis-Related Juvenile Idiopathic Arthritis
Uveitis, Abnormality of tumor necrosis factor secretion, Sacroiliac arthritis, Psoriasiform derma... ORPHA:85436
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Increased circulating ferritin concentration, Endocardial fibroelasto... OMIM:619313
Vacterl/Vater Association
Congenital diaphragmatic hernia ORPHA:887
Cornelia De Lange Syndrome 1
Pneumonia, Optic atrophy, Microcornea, Optic disc coloboma, Elbow flexion contracture, Congenital... OMIM:122470
Drug-Induced Autoimmune Hemolytic Anemia
Fatigue ORPHA:90037
Ciliary Dyskinesia, Primary, 18
Immotile sperm, Male infertility OMIM:614874
Hermansky-Pudlak Syndrome
Cardiomyopathy, Abnormal dental enamel morphology, Weight loss, Fatigue, Abdominal pain ORPHA:79430
Wolfram Syndrome 1
Optic atrophy, Hearing impairment, Cardiomyopathy, Sensorineural hearing impairment, Ataxia, Test... OMIM:222300
Toxic Epidermal Necrolysis
Fatigue, Weight loss, Abnormal myocardium morphology, Abdominal pain, Sudden cardiac death ORPHA:537
Post-Traumatic Pituitary Deficiency
Fatigue ORPHA:95619
Combined Oxidative Phosphorylation Deficiency 40
Hypertrophic cardiomyopathy, Decreased liver function, Elevated circulating creatine kinase conce... OMIM:618835
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Broad-based gait, Falls, Tip-toe gait, Failure to thrive, Obesity, Ventricular septal defect, Dec... OMIM:619475
Pontocerebellar Hypoplasia, Type 7
Skeletal muscle atrophy OMIM:614969
Late-Onset Isolated Acth Deficiency
Failure to thrive, Arthralgia, Weight loss, Fatigue, Abdominal pain ORPHA:199299
Autosomal Dominant Hypophosphatemic Rickets
Fatigue, Bone pain ORPHA:89937
Septo-Optic Dysplasia Spectrum
Obesity, Fatigue ORPHA:3157
Noonan Syndrome 2
Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Mitral stenosis, Mitr... OMIM:605275
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Camptodactyly of finger, Abnormal aortic valve morphology, Aplasia/Hypop... ORPHA:2990
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Male infertility, Reduced sperm motility OMIM:613807
Noonan Syndrome
Abnormal EKG, Low-set, posteriorly rotated ears, Hypertrophic cardiomyopathy, Aplasia of the semi... ORPHA:648
Familial Mediterranean Fever
Vasculitis, Erysipelas, Acute hepatic failure, Skin rash, Orchitis, Arrhythmia, Peritonitis, Panc... ORPHA:342
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Ataxia-Telangiectasia
Elevated circulating alpha-fetoprotein concentration, Decreased circulating IgG level, Decreased ... OMIM:208900
Herpes Simplex Virus Encephalitis
Fatigue, Chills ORPHA:1930
Lowe Oculocerebrorenal Syndrome
Joint contracture of the hand, Neonatal hypotonia, Camptodactyly of finger, Corneal scarring, Hyp... OMIM:309000
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myalgia, Arthralgia, Weight loss, Fatigue, Abdominal pain, Bone pain ORPHA:98849
Denys-Drash Syndrome
Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia OMIM:194080
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight, Proximal muscle weakness OMIM:615830
Noonan Syndrome 5
Low-set ears, Hypertrophic cardiomyopathy, Large for gestational age, Arrhythmia, Atrial septal d... OMIM:611553
Carney Triad
Abdominal pain, Leiomyosarcoma, Fatigue ORPHA:139411
Koolen-De Vries Syndrome Due To A Point Mutation
Optic atrophy, Hearing impairment, Cardiomyopathy, Eczematoid dermatitis, Recurrent otitis media,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Optic atrophy, Hearing impairment, Cardiomyopathy, Eczematoid dermatitis, Recurrent otitis media,... ORPHA:363958
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Right bundle branch b... OMIM:617506
Ogden Syndrome
Low-set ears, Recurrent otitis media, Torsade de pointes, Hyperbilirubinemia, Ventricular septal ... OMIM:300855
Familial Mediterranean Fever
Erysipelas, Crohn's disease, Orchitis, Peritonitis, Elevated circulating amyloid A concentration,... OMIM:249100
Granulomatosis With Polyangiitis
Asthenia, Myalgia, Gangrene, Weight loss, Fatigue OMIM:608710
Glucocorticoid Resistance, Generalized
Fatigue OMIM:615962
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Hearing impairment, Elevated circulating creatine kinase concentration OMIM:618838
Igg4-Related Kidney Disease
Arteritis, Inflammatory abnormality of the skin, Decreased retinol-binding protein level, Lymphad... ORPHA:449395
Hellp Syndrome
Shoulder pain, Epigastric pain, Increased body weight, Fatigue, Abdominal pain, Back pain ORPHA:244242
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart val... OMIM:230500
Thyroid Ectopia
Macroglossia, Fatigue, Umbilical hernia ORPHA:95712
Low Phospholipid-Associated Cholelithiasis
Obesity, Cholecystitis, Sclerosing cholangitis, Pancreatitis, Hypercholesterolemia, Cholangitis, ... ORPHA:69663
Congenital Myopathy 13
Skeletal muscle atrophy, Weakness of facial musculature, Fatty replacement of skeletal muscle, In... OMIM:255995
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Low-set ears, Restrictive cardiomyopathy, Hearing impairment, EEG with generalized sharp slow wav... ORPHA:369837
Developmental Delay With Or Without Dysmorphic Facies And Autism
Hypotonia, Congenital diaphragmatic hernia, Optic disc coloboma OMIM:618454
Leopard Syndrome 2
Hypertrophic cardiomyopathy OMIM:611554
Diets-Jongmans Syndrome
Congenital diaphragmatic hernia, Generalized hypotonia OMIM:618846
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia, Skeletal muscle atrophy OMIM:618252
Combined Oxidative Phosphorylation Deficiency 57
Hypertrophic cardiomyopathy, Cardiac arrest, Left ventricular noncompaction cardiomyopathy OMIM:620167
Perlman Syndrome
Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia OMIM:267000
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Elevated circulating creatine kinase conc... OMIM:618775
Waldenström Macroglobulinemia
Fatigue, Ataxia ORPHA:33226
Renal Nutcracker Syndrome
Abdominal pain, Flank pain, Weight loss, Fatigue ORPHA:71273
7Q11.23 Microduplication Syndrome
Generalized hypotonia, Astigmatism, Congenital diaphragmatic hernia, Abnormal optic disc morpholo... ORPHA:96121
45,X/46,Xy Mixed Gonadal Dysgenesis
Hearing impairment, Recurrent otitis media, Low-set, posteriorly rotated ears, Obesity, Streak ov... ORPHA:1772
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Increased circulating antibody level, Increased circulating IgA ... ORPHA:3261
Botulism
Abdominal pain, Fatigue ORPHA:1267
Hereditary Pheochromocytoma-Paraganglioma
Chest pain, Weight loss, Episodic abdominal pain, Fatigue ORPHA:29072
Somatomammotropinoma
Impotence, Hypertrophic cardiomyopathy, Tall stature, Paresthesia, Mitral regurgitation, Dysmenor... ORPHA:314769
Autoimmune Hemolytic Anemia, Warm Type
Arthralgia, Fatigue ORPHA:90033
Wolf-Hirschhorn Syndrome
Optic atrophy, Megalocornea, Hypotonia, Congenital diaphragmatic hernia, Sclerocornea, Iris colob... ORPHA:280
Tetraamelia Syndrome 1
Cataract, Congenital diaphragmatic hernia OMIM:273395
Acromegaly
Acne, Impotence, Hypertrophic cardiomyopathy, Tall stature, Paresthesia, Mitral regurgitation, Dy... ORPHA:963
Moebius Syndrome
Skeletal muscle atrophy, Facial palsy, Arthrogryposis multiplex congenita, Blepharitis, Aplasia o... ORPHA:570
Congenital Isolated Acth Deficiency
Fatigue ORPHA:199296
Coccidioidomycosis
Pneumonia, Vasculitis, Folliculitis, Vasospasm, Morbilliform rash, Osteomyelitis, Cerebral ischem... ORPHA:228123
Hypocalciuric Hypercalcemia, Familial, Type Iii
Multiple lipomas, Chondrocalcinosis, Fatigue, Bone pain OMIM:600740
Combined Oxidative Phosphorylation Deficiency 59
Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection fraction, Hyperalaninemia... OMIM:620646
Reynolds Syndrome
Myalgia, Fatigue ORPHA:779
Exercise-Induced Malignant Hyperthermia
Fatigue, Rhabdomyolysis, Ataxia ORPHA:466650
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... OMIM:611878
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, M... ORPHA:391487
Iatrogenic Botulism
Fatigue ORPHA:254509
Xq21 Microdeletion Syndrome
Upper limb muscle weakness, Postnatal growth retardation, Obesity, Abnormality of the Achilles te... ORPHA:1435
Holoprosencephaly
Optic atrophy, Spasticity, Hypotonia, Congenital diaphragmatic hernia, Short neck, Dystonia, Iris... ORPHA:2162
Leprechaunism
Low-set ears, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Protruding ear, Hypokalemia, ... ORPHA:508
Immunodeficiency 97 With Autoinflammation
Abdominal pain, Fatigue OMIM:619802
Mullegama-Klein-Martinez Syndrome
Facial palsy, Congenital diaphragmatic hernia, Generalized hypotonia OMIM:301022
Amyloidosis, Finnish Type
Decreased heart rate variability, Cardiac amyloidosis, Cardiomyopathy, Orthostatic hypotension OMIM:105120
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight, Eczematoid dermatitis ORPHA:64745
Monosomy 9P
Webbed neck, Hypotonia, Congenital diaphragmatic hernia, Short neck, Hypertonia ORPHA:261112
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Epistaxis, Cardiomyopathy, Colitis OMIM:203300
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculogyric crisis, Abnormal circulating biopterin concentration, Tremor, Abnormal cir... OMIM:612716
Adrenocortical Carcinoma
Increased body weight, Weight loss, Muscle weakness, Hypokalemia ORPHA:1501
Vexas Syndrome
Night sweats, Arthralgia, Fatigue OMIM:301054
Intellectual Developmental Disorder, X-Linked 112
Abnormal heart morphology, Bicuspid aortic valve, Fatigue, Pain OMIM:301111
Inhalational Botulism
Fatigue ORPHA:254504
Igg4-Related Retroperitoneal Fibrosis
Pain, Low back pain, Flank pain, Weight loss, Fatigue, Abdominal pain ORPHA:49041
Congenital Sialidosis Type 2
Telangiectasia, Abnormal EKG ORPHA:93400
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Cardiomyopathy, Splenomegaly, Sensorineural hearing impairment, Ataxia, Decreased circulating ant... OMIM:616084
Dextrocardia
T-wave inversion, Abnormal EKG ORPHA:1666
Kabuki Syndrome
Hypotonia, Microcornea, Congenital diaphragmatic hernia ORPHA:2322
Marfan Syndrome
Skeletal muscle atrophy, Slender build, Myalgia, Inguinal hernia, Mitral valve prolapse, Tricuspi... ORPHA:558
Inhalational Anthrax
Fatigue ORPHA:247257
Hypocalcemic Vitamin D-Dependent Rickets
Cardiomyopathy, Hypocalcemia, Elevated circulating alkaline phosphatase concentration, Hypophosph... ORPHA:289157
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Macroglossia, Overweight, Fatigue, Umbilical hernia ORPHA:226307
Niemann-Pick Disease Type C
Cataplexy, Speech apraxia, Chorea, Limb dystonia, Axial dystonia, Myoclonus, Tremor, Progressive ... ORPHA:646
Martsolf Syndrome 1
Low-set ears, Cardiomyopathy, Congestive heart failure, Hypogonadotropic hypogonadism, Prominent ... OMIM:212720
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Low-set ears, Restrictive cardiomyopathy, Large for gestational age, Ataxia, Multifocal epileptif... OMIM:615398
3-Methylglutaconic Aciduria Type 7
Elevated circulating hepatic transaminase concentration, Cardiomyopathy ORPHA:445038
Primary Hyperoxaluria
Elevated circulating hepatic transaminase concentration, Arterial occlusion, Cardiomyopathy, Hype... ORPHA:416
Mody
Intrauterine growth retardation, Obesity, Large for gestational age, Abnormal circulating C-pepti... ORPHA:552
Xeroderma Pigmentosum
Arthralgia, Fatigue, Failure to thrive, Ataxia ORPHA:910
Paternal Uniparental Disomy Of Chromosome 6
Abnormal earlobe morphology, Ventricular septal defect, Cardiomegaly, Hepatomegaly, Macroglossia ORPHA:96191
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... OMIM:620066
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Hearing impairment, Abnormal earlobe morphology, Hypertrophic cardiomyopa... ORPHA:2556
Limb Body Wall Complex
Diastasis recti, Congenital diaphragmatic hernia, Corneal opacity, Lens subluxation, Iris coloboma ORPHA:2369
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Immunodeficiency 58
Atrophic scars, Fatigue, Failure to thrive OMIM:618131
Cutis Laxa, Autosomal Recessive, Type Ic
Recurrent pneumonia, Morgagni diaphragmatic hernia, Hypotonia, Posterolateral diaphragmatic herni... OMIM:613177
Smith-Lemli-Opitz Syndrome
Cataract, Optic atrophy, Hypotonia, Congenital diaphragmatic hernia, Aganglionic megacolon, Short... ORPHA:818
Primary Hepatic Neuroendocrine Carcinoma
Night sweats, Episodic abdominal pain, Weight loss, Chronic fatigue ORPHA:100085
Proteus Syndrome
Macrodactyly, Thymus hyperplasia, Finger syndactyly, Decreased muscle mass, Diabetes insipidus, M... ORPHA:744
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Epiphyseal stippling, Elevated circulati... OMIM:270400
Malt Lymphoma
Abdominal pain, Weight loss, Fatigue ORPHA:52417
Abnormal Hair, Joint Laxity, And Developmental Delay
Lower limb pain, Fatigue OMIM:261990
Acute Adrenal Insufficiency
Failure to thrive, Arthralgia, Weight loss, Fatigue, Abdominal pain ORPHA:95409
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Flexion contracture, Abnormal hemoglobin ORPHA:847
Parathyroid Carcinoma
Chondrocalcinosis, Episodic abdominal pain, Weight loss, Fatigue, Lipoma, Mandibular pain, Bone pain ORPHA:143
Acute Panmyelosis With Myelofibrosis
Low back pain, Fatigue ORPHA:86843
Hypermobile Ehlers-Danlos Syndrome
Atypical scarring of skin, Umbilical hernia, Chronic pain, Myalgia, Cystocele, Inguinal hernia, M... ORPHA:285
Pagod Syndrome
Optic atrophy, Congenital diaphragmatic hernia ORPHA:991
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Congenital diaphragmatic hernia, Generalized hypotonia OMIM:617641
Simpson-Golabi-Behmel Syndrome, Type 1
Hearing impairment, Birth length greater than 97th percentile, Tall stature, Congenital diaphragm... OMIM:312870
Meacham Syndrome
Congenital diaphragmatic hernia ORPHA:3097
Cataract 49
Posterior cortical cataract OMIM:619593
Igg4-Related Ophthalmic Disease
Trigeminal neuralgia, Sialadenitis, Abnormality of the extraocular muscles, Orchitis, Prostatitis... ORPHA:449563
Magel2-Related Prader-Willi-Like Syndrome
Failure to thrive, Increased body weight, Abdominal obesity, Short stature, Flexion contracture ORPHA:398069
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Generalized hypotonia, Contracture of the proximal interphalangeal joint of the 3rd finger, Conge... OMIM:301044
Cockayne Syndrome
Vascular calcification, Cerebellar dentate nucleus calcification, Congenital contracture, Contrac... ORPHA:191
Noonan Syndrome 4
Low-set ears, Hypertrophic cardiomyopathy, Large for gestational age, Ventricular septal defect, ... OMIM:610733
Leprosy
Epistaxis, Skeletal muscle atrophy, Foot dorsiflexor weakness, Iritis, Uveitis ORPHA:548
Familial Aortic Dissection
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly ORPHA:229
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Ayme-Gripp Syndrome
Camptodactyly, Pericarditis OMIM:601088
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Obesity, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglycer... ORPHA:209902
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Tricuspid regurgitation, Knee flexion contracture, Camptodactyly, Right bun... OMIM:617402
Acute Radiation Syndrome
Fatigue ORPHA:454831
Hereditary Spherocytosis
Restrictive cardiomyopathy, Hyperbilirubinemia, Gout, Jaundice, Maculopapular exanthema ORPHA:822
Penoscrotal Transposition
Cardiomyopathy ORPHA:2842
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia, Umbilical hernia OMIM:301040
Functioning Gonadotropic Adenoma
Fatigue ORPHA:91348
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Weight loss, Fatigue ORPHA:309031
Joubert Syndrome 39
Overweight, Joint contracture of the 5th finger OMIM:619562
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypertrophic cardiomyopathy, Hypocholesterolemia OMIM:618810
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy ORPHA:5
Loeys-Dietz Syndrome 1
Hypoplasia of the musculature, Inguinal hernia, Mitral valve prolapse, Bicuspid aortic valve, Atr... OMIM:609192
Craniolenticulosutural Dysplasia
Posterior Y-sutural cataract ORPHA:50814
Acrorenal-Mandibular Syndrome
Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:200980
Camurati-Engelmann Disease
Skeletal muscle atrophy OMIM:131300
Cushing Disease
Increased body weight, Fatiguable weakness of proximal limb muscles, Proximal amyotrophy, Truncal... ORPHA:96253
Scimitar Syndrome
Abnormal hemidiaphragm morphology, Congestive heart failure, Hypoplasia of the diaphragm, Pulmona... ORPHA:185
Costello Syndrome
Low-set ears, Hypertrophic cardiomyopathy, Vestibular schwannoma, Mitral valve prolapse, Ventricu... OMIM:218040
Ciliary Dyskinesia, Primary, 53
Recurrent pneumonia, Situs inversus totalis, Chronic sinusitis, Patent foramen ovale, Cardiomegal... OMIM:620642
Gamma-Heavy Chain Disease
Fatigue ORPHA:100026
Truncus Arteriosus
Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morpho... ORPHA:3384
Heterotaxy, Visceral, 1, X-Linked
Low-set ears, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, He... OMIM:306955
Gallbladder Neuroendocrine Tumor
Chronic fatigue, Weight loss, Episodic abdominal pain ORPHA:100086
Iniencephaly
Arthrogryposis multiplex congenita, Congenital diaphragmatic hernia ORPHA:63259
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Fatigue, Failure to thrive ORPHA:293978
Aregenerative Anemia
Abnormal circulating interleukin concentration ORPHA:101096
Sotos Syndrome
Increased body weight, Tall stature, Otitis media, Overgrowth OMIM:117550
Gitelman Syndrome
Prominent U wave, Abnormal T-wave, Palpitations, Rhabdomyolysis, ST segment depression, Syncope, ... ORPHA:358
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Tall stature, Transient ischemic attack, Ischemic stroke, Cardiomegaly, Sub... ORPHA:91387
Chikungunya
Shoulder pain, Paresthesia, Myalgia, Arthralgia, Fatigue, Enthesitis, Knee pain, Chills ORPHA:324625
Autoimmune Hepatitis
Abdominal pain, Arthralgia, Chronic fatigue ORPHA:2137
Aneurysm-Osteoarthritis Syndrome
Atypical scarring of skin, Camptodactyly of finger, Abnormal heart morphology, Umbilical hernia, ... ORPHA:284984
Lymphangioleiomyomatosis
Chest pain, Fatigue, Abdominal pain, Chylopericardium, Shagreen patch ORPHA:538
Pulmonary Alveolar Microlithiasis
Chest pain, Mitral valve calcification, Weight loss, Fatigue ORPHA:60025
Ileal Neuroendocrine Tumor
Episodic abdominal pain, Weight loss, Chronic fatigue, Tricuspid stenosis, Pulmonic stenosis ORPHA:100078
Familial Pancreatic Carcinoma
Abdominal pain, Weight loss, Chronic fatigue, Back pain ORPHA:1333
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Cardiomyopathy, Abnormal cardiac septum morphology OMIM:217980
Atypical Werner Syndrome
Aortic valve stenosis, Aortic valve calcification, Chondrocalcinosis, Skeletal muscle atrophy, Su... ORPHA:79474
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Low-set ears, Hypertrophic cardiomyopathy, Hyperammonemia, Arrhythmia, Hyperalaninemia, Ataxia, H... OMIM:614052
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Truncus arteriosus, P... OMIM:615415
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy OMIM:610773
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy OMIM:619053
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Oculogyric crisis, Cerebral palsy, Hypomagnesemia, Abnormal circulating biopterin concentration, ... ORPHA:1578
Hereditary Elliptocytosis
Abdominal pain, Exercise intolerance, Fatigue, Chills ORPHA:288
Pituitary Apoplexy
Trigeminal neuralgia, Fatigue ORPHA:95613
C Syndrome
Hypotonia, Short neck, Aplasia/Hypoplasia of the abdominal wall musculature, Congenital diaphragm... ORPHA:1308
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology ORPHA:1517
Opitz Gbbb Syndrome
Recurrent aspiration pneumonia, Congenital diaphragmatic hernia ORPHA:2745
Pearson Syndrome
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hearing impairment, Car... ORPHA:699
Hemorrhagic Fever-Renal Syndrome
Myalgia, Decreased body weight, Fatigue, Abdominal pain, Chills, Back pain ORPHA:340
Hyperparathyroidism-Jaw Tumor Syndrome
Chondrocalcinosis, Episodic abdominal pain, Fatigue, Lipoma, Mandibular pain, Bone pain ORPHA:99880
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Ventricular tachycardia, Ventricular fibrill... OMIM:300952
Addison Disease
Failure to thrive, Arthralgia, Weight loss, Fatigue, Abdominal pain ORPHA:85138
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Interphalangeal joint contracture of finger, Hypertrophic cardiomyopathy, Large for gestational a... ORPHA:96334
Acrofacial Dysostosis 1, Nager Type
Aganglionic megacolon, Congenital diaphragmatic hernia OMIM:154400
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Fatigue ORPHA:300298
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Osteopenia, Failure to thrive, Increased circulating ferritin concentration, Ele... OMIM:619534
Tyrosinemia, Type I
Hypermethioninemia, Gastrointestinal hemorrhage, Hepatic failure, Elevated circulating hepatic tr... OMIM:276700
Witteveen-Kolk Syndrome
Obesity, Congenital diaphragmatic hernia, Inguinal hernia, Fatigue, Contracture of the distal int... OMIM:613406
Igg4-Related Thyroid Disease
Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Hypocalcemia, Hashimoto thyroiditis, Hypo... ORPHA:64744
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor... ORPHA:1457
Classical Ehlers-Danlos Syndrome
Cigarette-paper scars, Umbilical hernia, Atrophic scars, Limb pain, Inguinal hernia, Mitral valve... ORPHA:287
Systemic Lupus Erythematosus
Malaise, Chorea, Weight loss, Fatigue ORPHA:536
Nijmegen Breakage Syndrome
Recurrent pneumonia, Rhabdomyosarcoma, Skeletal muscle atrophy ORPHA:647
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Low-set ears, Hypertrophic cardiomyopathy, Mitral atresia, Mitral regurgitation, Dysmetria, Hyper... OMIM:220111
Stickler Syndrome
Skeletal muscle atrophy, Mitral valve prolapse, Arrhythmia, Osteoarthritis, Macroglossia, Chronic... ORPHA:828
Hughes-Stovin Syndrome
Chest pain, Fatigue ORPHA:228116
Distal Deletion 15Q
Congenital diaphragmatic hernia ORPHA:1596
Gaucher Disease, Type Iiic
Aortic valve calcification, Calcification of the aorta, Splenomegaly, Mitral stenosis, Cardiomega... OMIM:231005
Duane Retraction Syndrome
Camptodactyly, Skeletal muscle atrophy ORPHA:233
Cutis Laxa, Autosomal Recessive, Type Ib
Hypotonia, Congenital diaphragmatic hernia, Hypoplasia of the diaphragm OMIM:614437
Sickle Cell Disease
Priapism, Splenomegaly, Cardiomegaly, Hepatomegaly, Jaundice, Hypertension OMIM:603903
Cardiospondylocarpofacial Syndrome
Recurrent otitis media, Hypotonia, Congenital diaphragmatic hernia OMIM:157800
Familial Hypocalciuric Hypercalcemia
Lipoma, Chondrocalcinosis, Episodic abdominal pain, Fatigue ORPHA:405
Plague
Chest pain, Arthralgia, Fatigue, Abdominal pain, Unsteady gait, Chills, Endocarditis ORPHA:707
Cornelia De Lange Syndrome
Cataract, Microcornea, Hypotonia, Congenital diaphragmatic hernia, Short neck, Hypertonia ORPHA:199
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Eczematoid dermatitis, Congestive heart failure, Tricuspid regurgitation, Noncompaction cardiomyo... ORPHA:508542
Poland Syndrome
Short neck, Congenital diaphragmatic hernia, Aplasia of the pectoralis major muscle ORPHA:2911
Supranuclear Palsy, Progressive, 1
Limb dystonia, Retrocollis, Axial dystonia, Rigidity, Tremor, Parkinsonism, Bradykinesia, Eyelid ... OMIM:601104
Chromosome 1P36 Deletion Syndrome, Distal
Low-set ears, Hearing impairment, Sensorineural hearing impairment, Ventricular septal defect, Bi... OMIM:607872
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Myalgia, Arthralgia, Fatigue ORPHA:183675
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Sudden death, Umbilical hernia, Atrophic scars, Cystocele, Inguinal hern... OMIM:613795
Knobloch Syndrome 2
Anterior cortical cataract OMIM:618458
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Toriello-Carey Syndrome
Low-set ears, Hearing impairment, Cardiomyopathy, Tetralogy of Fallot, Anotia, Aganglionic megaco... ORPHA:3338
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm OMIM:600001
Hydrolethalus Syndrome 1
Agenesis of the diaphragm OMIM:236680
Focal Dermal Hypoplasia
Optic atrophy, Ectopia lentis, Aniridia, Diastasis recti, Congenital diaphragmatic hernia, Iris c... OMIM:305600
Congenital Tracheomalacia
Pneumonia, Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegal... ORPHA:95430
Pmm2-Cdg
Hypoalbuminemia, Osteopenia, Failure to thrive, Multiple joint contractures, Reduced thyroxin-bin... ORPHA:79318
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Sarcoidosis
Chest pain, Scarring, Weight loss, Fatigue, Facial palsy ORPHA:797
Selective Igm Deficiency
Cellulitis, Chronic fatigue, Fasciitis ORPHA:331235
Alkaptonuria
Methemoglobinemia, Reduced bone mineral density, Hemolytic anemia ORPHA:56
Somatostatinoma
Episodic abdominal pain, Weight loss, Chronic fatigue, Subcutaneous lipoma ORPHA:97283
Wiskott-Aldrich Syndrome
Chest pain, Fatigue, Sudden cardiac death ORPHA:906
Noonan Syndrome 3
Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Patent foramen ova... OMIM:609942
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Low-set ears, Aortic regurgitation, Eczematoid dermatitis, Hypertrophic cardiomyopathy, Large for... OMIM:607721
Vipoma
Episodic abdominal pain, Weight loss, Chronic fatigue, Subcutaneous lipoma ORPHA:97282
Microcephaly 13, Primary, Autosomal Recessive
Restrictive cardiomyopathy OMIM:616051
Gastrointestinal Stromal Tumor
Fatigue ORPHA:44890
Tubulointerstitial Nephritis And Uveitis Syndrome
Chorioretinal scar, Myalgia, Flank pain, Arthralgia, Weight loss, Fatigue, Abdominal pain, Ocular... ORPHA:91500
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Hearing impairment, Tinnitus, Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the ora... ORPHA:79280
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Arthralgia, Fatigue ORPHA:562639
Mitochondrial Complex I Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Increased serum pyruvate OMIM:618222
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Camptodactyly, Flexion contracture, Skeletal muscle atrophy OMIM:309590
Friedreich Ataxia 2
Congestive heart failure, Abnormal EKG, Concentric hypertrophic cardiomyopathy OMIM:601992
Coffin-Siris Syndrome 1
Astigmatism, Hypotonia, Congenital diaphragmatic hernia OMIM:135900
Yunis-Varon Syndrome
Low-set ears, Hearing impairment, Cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect,... ORPHA:3472
Lymphatic Filariasis
Fatigue, Pain ORPHA:2035
Glucagonoma
Episodic abdominal pain, Weight loss, Chronic fatigue, Subcutaneous lipoma ORPHA:97280
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia OMIM:618280
Double Outlet Left Ventricle
Abnormal right ventricular function, Cardiomegaly, Ventricular septal defect, Bicuspid pulmonary ... ORPHA:3427
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Hypertrophic cardiomyopathy, Elevated hemoglobin A1c OMIM:616539
Alström Syndrome
Cataract, Recurrent pneumonia, Posterior subcapsular cataract, Hepatitis, Otitis media, Recurrent... ORPHA:64
Cushing Syndrome Due To Ectopic Acth Secretion
Increased body weight, Fatiguable weakness of proximal limb muscles, Weight loss, Proximal amyotr... ORPHA:99889
Zimmermann-Laband Syndrome 1
Low-set ears, Hearing impairment, Cardiomyopathy, Splenomegaly, Hepatomegaly, Posteriorly rotated... OMIM:135500
Goodpasture Syndrome
Chest pain, Weight loss, Fatigue, Chills OMIM:233450
Pallister-Killian Syndrome
Webbed neck, Cataract, Camptodactyly of 2nd-5th fingers, Generalized hypotonia, Hypotonia, Congen... OMIM:601803
17Q11 Microdeletion Syndrome
Low-set ears, Hypertrophic cardiomyopathy, Abnormal heart morphology, Renovascular hypertension, ... ORPHA:97685
Generalized Glucocorticoid Resistance Syndrome
Fatigue ORPHA:786
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Endocardial fibroelastosis, Mitral regurgitation, Cardiomyopathy OMIM:226100
Pontocerebellar Hypoplasia Type 7
Skeletal muscle atrophy ORPHA:284339
Primrose Syndrome
Distal amyotrophy, Skeletal muscle atrophy, Cerebral calcification, Hip contracture, Knee flexion... OMIM:259050
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Lower limb dysmetria, Hypertrophic cardiomyopathy, Abnormal heart morphology, Mitral regurgitatio... ORPHA:363700
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Atypical scarring of skin, Myalgia, Fatigue, Vulvodynia ORPHA:95455
Noonan Syndrome 1
Low-set ears, Hearing impairment, Male infertility, Hypertrophic cardiomyopathy, Hypogonadism, Se... OMIM:163950
Adenocarcinoma Of The Anal Canal
Chronic fatigue, Abdominal pain ORPHA:424016
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Low-set ears, Hearing impairment, Cardiomyopathy, Low-set, posteriorly rotated ears, Atrial septa... ORPHA:480880
Yunis-Varon Syndrome
Low-set ears, Prominent antihelix, Cupped ear, Cardiomyopathy, Aspiration pneumonia, Tetralogy of... OMIM:216340
Carney Complex
Increased body weight, Tall stature, Muscle weakness, Abdominal obesity ORPHA:1359

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 Dmd

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 Dmd.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Hearing impairment due to Mir183/96/182 mutations suggests both loss and gain of function effects. Disease models & mechanisms (December 2020) Mir96Dmdo PMC7903918
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) mir96Dmdo PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Mir96Dmdo Mir96Dmdo PMC6459510

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
Dmdem1(IMPC)Hmgu Exon Deletion Mice
Dmdtm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Dmdtm82520(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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