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Gene: Ighmbp2 MGI:99954

Gene Summary

Name:

immunoglobulin mu DNA binding protein 2

Synonyms:

Smbp-2, RIPE3b1, Catf1, Smbp2, p110 subunit, Smubp2, sma, AEP

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased bone mineral content	Ighmbp2^em1(IMPC)Tcp	HET	Early adult	5.36×10^-05
preweaning lethality, complete penetrance	Ighmbp2^em1(IMPC)Tcp	HOM	Early adult	0.00
abnormal skin morphology	Ighmbp2^em1(IMPC)Tcp	HET	Late adult	0.00
enlarged kidney	Ighmbp2^em1(IMPC)Tcp	HET	Late adult	0.00

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lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

5 Images

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Eye Morphology

Images Ophthalmoscopy

175 Images

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Combined SHIRPA and Dysmorphology

Images

3 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Histopathology

6 Images

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Histopathology

Images

1 Images

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Immunophenotyping

Panel B FCS file(s)

2 Images

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Immunophenotyping

Panel A FCS file(s)

2 Images

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Human diseases caused by Ighmbp2 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.

Human diseases associated with Ighmbp2 (2 diseases)
Human diseases predicted to be associated with Ighmbp2 (2057 diseases)

The table below shows human diseases associated to Ighmbp2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1		Decreased nerve conduction velocity, Axonal degeneration, Distal amyotrophy, Spinal muscular atro...	OMIM:604320
Charcot-Marie-Tooth Disease, Axonal, Type 2S		Distal sensory impairment, Axonal degeneration, Upper limb muscle weakness, Foot dorsiflexor weak...	OMIM:616155

The table below shows human diseases predicted to be associated to Ighmbp2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cystic Angiomatosis Of Bone, Diffuse	Cystic angiomatosis of bone	OMIM:123880
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Decreased distal sensory nerve action potential, Decreased nerve conduction velocity, Distal sens...	OMIM:601098
Charcot-Marie-Tooth Disease, Dominant Intermediate C	Decreased sensory nerve conduction velocity, Distal sensory impairment, Distal amyotrophy, Upper ...	OMIM:608323
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Impaired proprioception, Impaired temperature sensation, Hypertrophic nerve changes, Abnormal mot...	DECIPHER:29
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Distal lower limb muscle weakness, Decreased nerve conduction velocity, Impaired vibration sensat...	ORPHA:90103
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Distal sensory impairment, Peripheral axonal neuropathy, Distal amyotrophy, Facial palsy, Limb mu...	OMIM:118210
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Decreased distal sensory nerve action potential, Proximal muscle weakness in upper limbs, Impaire...	OMIM:607706
Danon Disease	Congestive heart failure, Wolff-Parkinson-White syndrome, Lower limb amyotrophy, Syncope, Myocard...	OMIM:300257
Charcot-Marie-Tooth Disease, Type 4J	Ankle flexion contracture, Decreased nerve conduction velocity, Distal sensory impairment, Periph...	OMIM:611228
Hereditary Liability to Pressure Palsies (HNPP)	Motor conduction block	DECIPHER:31
Charcot-Marie-Tooth Disease Type 2B1	Peroneal muscle atrophy, Decreased number of large peripheral myelinated nerve fibers, Proximal m...	ORPHA:98856
Amyotrophic Lateral Sclerosis 11	Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Somatic sensory dysfunction, ...	OMIM:612577
Charcot-Marie-Tooth Disease, Axonal, Type 2N	Distal lower limb amyotrophy, Distal sensory impairment, Peripheral axonal neuropathy, Skeletal m...	OMIM:613287
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Limb-girdle muscle weakness, Peroneal muscle atrophy, Limb-girdle muscular dystrophy, Elbow flexi...	OMIM:181350
Congenital Myopathy 5 With Cardiomyopathy	Congestive heart failure, Severely reduced left ventricular ejection fraction, Calf muscle hypert...	OMIM:611705
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Distal lower limb muscle w...	OMIM:620068
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Distal sensory impairment, Axonal degeneration, Distal amyotrophy, Impaired distal vibration sens...	OMIM:614436
Chronic Inflammatory Demyelinating Polyneuropathy	Decreased nerve conduction velocity, Abnormal nerve conduction velocity, Spontaneous pain sensati...	ORPHA:2932
Charcot-Marie-Tooth Disease, Axonal, Type 2B2	Decreased motor nerve conduction velocity, Distal amyotrophy, Distal sensory impairment	OMIM:605589
Giant Axonal Neuropathy 2, Autosomal Dominant	Peripheral axonal neuropathy, Distal amyotrophy, Impaired distal vibration sensation, Impaired di...	OMIM:610100
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Biventricular hypertrophy, Muscle fiber hyaline bodies, Fourth heart sound, Congestive heart fail...	OMIM:255160
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Congestive heart failure, Ankle flexion contracture, Calf muscle hypertrophy, Scapular winging, E...	OMIM:608099
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced...	OMIM:617610
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2	Distal sensory impairment, Distal amyotrophy, Upper limb muscle weakness, Foot dorsiflexor weakne...	OMIM:302801
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Distal sensory impairment, Peripheral axonal neuropathy, Distal amyotrophy, Decreased amplitude o...	OMIM:608673
Myopathy, Myofibrillar, 3	Muscle fiber splitting, Distal amyotrophy, Cardiomyopathy, Elevated circulating creatine kinase c...	OMIM:609200
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Rimmed vacuoles, Scap...	OMIM:301075
Charcot-Marie-Tooth Disease, Axonal, Type 2Y	Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Impaired distal vibra...	OMIM:616687
Polyglucosan Body Myopathy 2	Peroneal muscle weakness, Difficulty walking, Muscle fiber inclusion bodies, Muscle fiber polyglu...	OMIM:616199
Charcot-Marie-Tooth Disease, Type 4H	Distal lower limb muscle weakness, Distal lower limb amyotrophy, Distal sensory impairment, Perip...	OMIM:609311
Cardiomyopathy, Dilated, 1X	Reduced left ventricular ejection fraction, Calf muscle hypertrophy, Elevated circulating creatin...	OMIM:611615
Myopathy, Distal, 1	Left atrial enlargement, Distal lower limb muscle weakness, Ragged-red muscle fibers, Tibialis an...	OMIM:160500
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Muscular dystrophy, Scapular winging, Cardiomyopathy, Elevated circulating creatine kinase concen...	OMIM:612999
Myopathy, Distal, With Rimmed Vacuoles	Internally nucleated skeletal muscle fibers, Babinski sign, Steppage gait, Rimmed vacuoles, Facia...	OMIM:617158
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Ascites, Myofiber disarray, Cardiomegaly, Myopathy, Ventricular septal h...	OMIM:115197
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8	Distal lower limb muscle weakness, Impaired pain sensation, Decreased amplitude of sensory action...	OMIM:618912
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Distal sensory impairment, Distal amyotrophy, Upper limb muscle weakness, Decreased number of per...	OMIM:605588
Cardiomyopathy, Dilated, 3B	Increased circulating creatine kinase MB isoform, Increased variability in muscle fiber diameter,...	OMIM:302045
Charcot-Marie-Tooth Disease, Axonal, Type 2F	Distal lower limb amyotrophy, Distal sensory impairment, Claw hand deformity, Chronic axonal neur...	OMIM:606595
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12	Peroneal muscle atrophy, Decreased motor nerve conduction velocity, Thenar muscle atrophy, Perone...	OMIM:614751
Autosomal Recessive Spastic Paraplegia Type 43	Spastic gait, Babinski sign, Ankle flexion contracture, Spasticity, Poor fine motor coordination,...	ORPHA:320370
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Polyhydramnios, Respiratory distress, Frontalis muscle weakness, Facial palsy, Decreased body wei...	OMIM:300580
Cardiomyopathy, Dilated, 1R	Congestive heart failure, Restrictive cardiomyopathy, Ventricular arrhythmia, Cardiomyocyte hyper...	OMIM:613424
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Left ventricular systolic dysfunction, Frontal cortical atrophy, Calf muscle hypertrophy, Right b...	ORPHA:206559
Charcot-Marie-Tooth Disease, Type 4A	Decreased sensory nerve conduction velocity, Distal sensory impairment, Hypertrophic nerve change...	OMIM:214400
Distal Hereditary Motor Neuropathy Type 5	First dorsal interossei muscle atrophy, Distal lower limb muscle weakness, Distal amyotrophy, Upp...	ORPHA:139536
Gne Myopathy	Hip flexor weakness, Muscle fiber inclusion bodies, Lower limb amyotrophy, Rimmed vacuoles, Facia...	ORPHA:602
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant	Type 2 muscle fiber predominance, Waddling gait, Spinal muscular atrophy, Proximal lower limb amy...	OMIM:158600
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Babinski sign, Distal lower limb muscle weakness, Distal lower limb amyotrophy, Distal sensory im...	OMIM:302800
Atrial Septal Defect, Ostium Primum Type	Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat...	ORPHA:99106
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Generalized limb muscle atrophy, Pelvic girdle muscle weakness, Calf muscle pseudohypertrophy, Sc...	OMIM:608358
Neuropathy, Hereditary, With Liability To Pressure Palsies	Hand paresthesia, Hand muscle weakness, Froment sign, Decreased motor nerve conduction velocity, ...	OMIM:162500
Atrial Standstill	Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu...	ORPHA:1344
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Peripheral hypomyelination, Abnormal cranial nerve morphology, Distal amyotrophy, Upper limb musc...	OMIM:605253
Paraparetic Variant Of Guillain-Barré Syndrome	Impaired distal proprioception, Peripheral axonal neuropathy, Sciatica, Pain, Paraparesis, Periph...	ORPHA:231445
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Distal sensory impairment, Axonal degeneration, Distal amyotrophy, Decreased number of peripheral...	OMIM:606482
Charcot-Marie-Tooth Disease, Type 4B1	Distal sensory impairment, Distal amyotrophy, Facial palsy, Abnormal auditory evoked potentials, ...	OMIM:601382
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff	Distal sensory impairment, Decreased compound muscle action potential amplitude, Weak grip, Dista...	OMIM:619519
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,...	OMIM:601493
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Reduced left ventricular ejection fraction, Respiratory distress, Cardi...	OMIM:613642
Cirrhotic Cardiomyopathy	Left atrial enlargement, Prolonged QT interval, Third heart sound, Ascites, Arrhythmia, Left vent...	ORPHA:57777
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Distal sensory impairment, Distal amyotrophy, Decreased number of large peripheral myelinated ner...	OMIM:615376
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Distal lower limb muscle weakness, Distal lower limb amyotrophy, Decreased compound muscle action...	OMIM:600882
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Muscular dystrophy, Respiratory distress, Calf muscle hypertrophy, Triceps weakness, Cardiomyopat...	ORPHA:86812
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro...	OMIM:612158
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Cerebral atrophy, Distal sensory impairment, Impaired distal proprioception, Peripheral axonal ne...	OMIM:607250
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Optic atrophy, Decreased sensory nerve conduction velocity, Distal sensory impairment, Distal amy...	OMIM:609260
Nonaka Myopathy	Distal lower limb muscle weakness, Deposits immunoreactive to beta-amyloid protein, Distal amyotr...	OMIM:605820
Hereditary Motor And Sensory Neuropathy V	Distal sensory impairment, Peripheral axonal neuropathy, Distal amyotrophy, Limb muscle weakness,...	OMIM:600361
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Distal sensory impairment, Distal amyotrophy, Decreased number of peripheral myelinated nerve fib...	OMIM:607734
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2	Claw hand deformity, Decreased compound muscle action potential amplitude, Distal amyotrophy, Spi...	OMIM:605726
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Muscular dystrophy, Calf muscle pseudohypertrophy, Scapular winging, Elevated circulating creatin...	OMIM:604286
Slowed Nerve Conduction Velocity, Autosomal Dominant	Decreased nerve conduction velocity	OMIM:608236
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Decreased distal sensory nerve action potential, Distal lower limb muscle weakness, Distal sensor...	OMIM:607684
Myopathy, Distal, Tateyama Type	Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, Hand muscle weakness...	OMIM:614321
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Distal amyotrophy,...	OMIM:618655
Spinal Muscular Atrophy, Type Iv	Hand tremor, Calf muscle hypertrophy, Rimmed vacuoles, Muscle fiber necrosis, Spinal muscular atr...	OMIM:271150
Triose Phosphate-Isomerase Deficiency	Decreased nerve conduction velocity, Skeletal muscle atrophy, Central nervous system degeneration	ORPHA:868
Distal Myopathy, Welander Type	Steppage gait, Difficulty walking, Distal upper limb amyotrophy, Rimmed vacuoles, EMG: myopathic ...	ORPHA:603
Cardiomyopathy, Dilated, 1L	Congestive heart failure, Reduced left ventricular ejection fraction, Elevated circulating creati...	OMIM:606685
X-Linked Charcot-Marie-Tooth Disease Type 6	Decreased nerve conduction velocity, Distal sensory impairment, Impaired vibration sensation in t...	ORPHA:352675
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Congestive heart failure, Calf muscle hypertrophy, Elbow flexion contracture, Elevated circulatin...	ORPHA:206546
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Rimmed vacuoles, Elevated circulating creatine kinase concentration, Increased variability in mus...	OMIM:300718
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J	Decreased motor nerve conduction velocity, Thenar muscle atrophy, Distal sensory impairment	OMIM:620111
Myopathy, Myofibrillar, 1	Bradycardia, Restrictive cardiomyopathy, Facial palsy, EMG: myopathic abnormalities, Hypertrophic...	OMIM:601419
Glycogen Storage Disease Of Heart, Lethal Congenital	Bradycardia, Cardiomyopathy, Ascites, Prolonged QRS complex, Cardiomegaly, T-wave inversion, Anas...	OMIM:261740
Wild Type Attr Amyloidosis	Pulmonary edema, Abnormal pulmonary interstitial morphology, Congestive heart failure, Myocardial...	ORPHA:330001
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	Decreased nerve conduction velocity, Distal sensory impairment, Distal amyotrophy, Upper limb mus...	OMIM:302802
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Muscular dystrophy, Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, S...	ORPHA:300751
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Rimmed vacuoles, Elevated circulating creatine kinase concentration, Increased variability in mus...	OMIM:612937
Charcot-Marie-Tooth Disease Type 4A	Decreased nerve conduction velocity, Distal sensory impairment, Chronic axonal neuropathy, Impair...	ORPHA:99948
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Decreased nerve conduction velocity, Distal sensory impairment, Hand muscle atrophy, Skeletal mus...	ORPHA:99944
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Muscular dystrophy, Reduced muscle fiber merosin, Calf muscle hypertrophy, Elevated circulating c...	ORPHA:34515
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome	Optic atrophy, Peripheral axonal neuropathy, Distal amyotrophy, Spastic tetraparesis, Spinal musc...	ORPHA:496756
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased distal sensory nerve action potential, Decreased sensory nerve conduction velocity, Dec...	ORPHA:206594
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D	Decreased motor nerve conduction velocity, Distal amyotrophy, Upper limb muscle weakness, Foot do...	OMIM:607678
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6	Lower limb amyotrophy, Triceps weakness, Spinal muscular atrophy, Weakness of the intrinsic hand ...	OMIM:615575
Sandhoff Disease, Adult Form	Fasciculations, Spasticity, Tremor, Upper limb muscle weakness, Gait ataxia, Focal dystonia, Musc...	ORPHA:309169
Cardiomyopathy, Dilated, 1M	Congestive heart failure, Reduced left ventricular ejection fraction, Impaired myocardial contrac...	OMIM:607482
Neuropathy, Hereditary Motor And Sensory, Russe Type	Distal lower limb muscle weakness, Distal lower limb amyotrophy, Distal sensory impairment, Claw ...	OMIM:605285
Macular Degeneration, Age-Related, 3	Peripheral axonal neuropathy, Distal amyotrophy, Decreased nerve conduction velocity, Distal sens...	OMIM:608895
Congenital Heart Block	Congestive heart failure, Hydrops fetalis, Bradycardia, Prolonged QTc interval, Gallop rhythm, Pa...	ORPHA:60041
Cardiomyopathy, Dilated, 2G	Left atrial enlargement, Aortic regurgitation, Paroxysmal ventricular tachycardia, Myocardial sar...	OMIM:619897
Charcot-Marie-Tooth Disease Type 1B	Decreased nerve conduction velocity, Skeletal muscle hypertrophy, Peripheral axonal neuropathy, S...	ORPHA:101082
Muscular Dystrophy, Becker Type	Muscular dystrophy, Calf muscle pseudohypertrophy, Cardiomyopathy, Elevated circulating creatine ...	OMIM:300376
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Proximal muscle weakness in upper limbs, Decreased nerve conduction velocity, Distal sensory impa...	ORPHA:435387
Trigeminal Neuralgia	Mandibular pain, Trigeminal neuralgia, Cranial nerve compression, Ocular pain, Allodynia, Somatic...	ORPHA:221091
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur...	OMIM:610193
Dpm3-Cdg	Muscular dystrophy, Calf muscle hypertrophy, Rimmed vacuoles, Elevated creatine kinase after exer...	ORPHA:263494
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Distal lower limb muscle weakness, Thenar muscle atrophy, Fiber type grouping, Interosseus muscle...	OMIM:619903
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Paralysis, Distal lower limb muscle weakness, Difficulty walking	OMIM:608634
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Increased intramuscul...	ORPHA:276435
Left Ventricular Noncompaction 8	Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat...	OMIM:615373
X-Linked Charcot-Marie-Tooth Disease Type 3	Distal lower limb amyotrophy, Peripheral axonal neuropathy, Distal upper limb amyotrophy, Distal ...	ORPHA:101077
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant	Distal sensory impairment, Decreased compound muscle action potential amplitude, Distal amyotroph...	OMIM:616040
Welander Distal Myopathy	Distal amyotrophy, Rimmed vacuoles, Steppage gait	OMIM:604454
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle hypertrophy, Rimmed vacuoles, Scapular winging, EMG: myopathic abnormalities, Hyp...	OMIM:300696
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Proximal muscle weakness in upper limbs, Abnormal circulating creatine kinase concentration, Resp...	OMIM:620375
Adult-Onset Nemaline Myopathy	Type 1 muscle fiber predominance, Upper limb muscle weakness, Nemaline bodies, EMG: myopathic abn...	ORPHA:171442
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E	Decreased nerve conduction velocity, Peripheral axonal neuropathy, Distal amyotrophy, Upper limb ...	ORPHA:99939
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Distal sensory impairment, Axonal deg...	OMIM:601596
Congenital Myopathy 2A, Typical, Autosomal Dominant	Polyhydramnios, Facial palsy, EMG: myopathic abnormalities, Nemaline bodies, Limb muscle weakness...	OMIM:161800
Familial Isolated Dilated Cardiomyopathy	Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Edema, Dilated cardi...	ORPHA:154
Cardiomyopathy, Dilated, 1U	Congestive heart failure, Left bundle branch block, Left ventricular hypertrophy, First degree at...	OMIM:613694
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Congestive heart failure, Abnormal motor neuron morphology, Brain atrophy, Rimmed vacuoles, Cardi...	ORPHA:52430
Spinal Muscular Atrophy, Type Iii	Pelvic girdle muscle weakness, Distal amyotrophy, Spinal muscular atrophy, Shoulder girdle muscle...	OMIM:253400
Neuropathy, Congenital Hypomyelinating, 2	Distal amyotrophy, Facial diplegia, Sensory ataxia, Skeletal muscle atrophy, Decreased number of ...	OMIM:618184
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Muscular dystrophy, Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, ...	OMIM:616827
Cardiomyopathy, Dilated, 2A	Congestive heart failure, Cardiomyocyte hypertrophy, Myofiber disarray, Increased left ventricula...	OMIM:611880
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Cerebral atrophy, Apraxia, Tetraparesis, Neuronal loss in central nervous system, Paraparesis, Ex...	OMIM:105550
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Congestive heart failure, Bradycardia, Brain atrophy, Ventricular hypertrophy, Hyperalaninemia, F...	OMIM:619048
Cardiomyopathy, Dilated, 1I	Congestive heart failure, Reduced left ventricular ejection fraction, Elevated circulating creati...	OMIM:604765
Left Ventricular Noncompaction 10	Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en...	OMIM:615396
X-Linked Charcot-Marie-Tooth Disease Type 5	Optic atrophy, Abnormal nerve conduction velocity, Impaired pain sensation, Skeletal muscle hyper...	ORPHA:99014
Roussy-Levy Hereditary Areflexic Dystasia	Distal sensory impairment, Hypertrophic nerve changes, Distal amyotrophy, Gait ataxia, Decreased ...	OMIM:180800
Congenital Myopathy 4A, Autosomal Dominant	Facial palsy, Type 1 fibers relatively smaller than type 2 fibers, Centrally nucleated skeletal m...	OMIM:255310
Charcot-Marie-Tooth Disease, Type 4B3	Distal lower limb muscle weakness, Decreased nerve conduction velocity, Distal sensory impairment...	OMIM:615284
Mitochondrial Myopathy With Diabetes	Babinski sign, Difficulty walking, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnorma...	OMIM:500002
Charcot-Marie-Tooth Disease, Recessive Intermediate B	Foot dorsiflexor weakness, Distal sensory impairment, Decreased compound muscle action potential ...	OMIM:613641
Combined Oxidative Phosphorylation Deficiency 10	Optic atrophy, Bradycardia, Pleural effusion, Ascites, Hypertrophic cardiomyopathy, Hyperalaninem...	OMIM:614702
Frontotemporal Dementia With Motor Neuron Disease	Babinski sign, Global brain atrophy, Progressive cerebellar ataxia, Apraxia, Abnormal upper motor...	ORPHA:275872
Charcot-Marie-Tooth Disease Type 4G	Decreased distal sensory nerve action potential, Distal lower limb muscle weakness, Distal sensor...	ORPHA:99953
Cardiomyopathy, Dilated, 1J	Congestive heart failure, Dilated cardiomyopathy, Abnormal left ventricular function, Sudden card...	OMIM:605362
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Internally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Decreased n...	OMIM:618138
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Distal sensory impairment, Axonal degeneration, Fasciculations, Tetraplegia, Proximal amyotrophy,...	OMIM:604484
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Difficulty walking, Distal amyotrophy, Tremor, Vocal cord paralysis, Vocal cord paresis	OMIM:158580
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Incoordination, Cerebellar atrophy, Gait apraxia, Gait ataxia, Ataxia, Babinski sign, Limb fascic...	OMIM:615157
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Falls, Calf muscle hypertrophy, Muscle fiber necrosis, Increased variability in muscle fiber diam...	OMIM:618848
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Pulmonary artery atresia, Left ventricular hypertrophy, Secundum atrial sept...	OMIM:108900
Distal Myopathy With Posterior Leg And Anterior Hand Involvement	Hip flexor weakness, Distal lower limb muscle weakness, Cardiomyopathy, Intrinsic hand muscle atr...	ORPHA:63273
Hereditary Myopathy With Early Respiratory Failure	Muscle fiber splitting, Internally nucleated skeletal muscle fibers, Necrotizing myopathy, Falls,...	ORPHA:178464
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13	Distal lower limb amyotrophy, Distal lower limb muscle weakness, Thenar muscle atrophy, Decreased...	OMIM:619112
Cardiomyopathy, Dilated, 1W	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular...	OMIM:611407
Cardiomyopathy, Dilated, 1Cc	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular...	OMIM:613122
Charcot-Marie-Tooth Disease Type 1A	Decreased sensory nerve conduction velocity, Distal sensory impairment, Calf muscle hypertrophy, ...	ORPHA:101081
Leukodystrophy, Hypomyelinating, 18	Decreased nerve conduction velocity, Atrophy/Degeneration affecting the brainstem, Cerebellar atr...	OMIM:618404
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Arrhythmia, Dilated cardiomyop...	ORPHA:168796
Familial Isolated Restrictive Cardiomyopathy	Left atrial enlargement, Pulmonary edema, Atrial fibrillation, Supraventricular arrhythmia, Synco...	ORPHA:75249
Cardiomyopathy, Dilated, 1Ff	Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume...	OMIM:613286
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Bradycardia, Nemaline bodies, Increased variability in muscle fiber diameter, Weakness of facial ...	OMIM:620265
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Muscular dystrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, W...	OMIM:619566
Amyotrophic Lateral Sclerosis 28	Chaddock reflex, Babinski sign, Difficulty walking, Fasciculations, Rimmed vacuoles, Upper limb m...	OMIM:620452
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Distal sensory impairment, Distal amyotrophy, Sensory ataxia, Limb muscle weakness, Gait ataxia, ...	OMIM:614895
Cardiomyopathy, Dilated, 1Dd	Congestive heart failure, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden c...	OMIM:613172
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f...	ORPHA:66529
Myopathy, Centronuclear, 5	Centrally nucleated skeletal muscle fibers, Hip contracture, Weakness of facial musculature, Dila...	OMIM:615959
Complex Regional Pain Syndrome	Limb pain, Trophic changes related to pain, Dysesthesia, Involuntary movements, Allodynia, Somati...	ORPHA:83452
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Decreased nerve conduction velocity, Ataxia, Skeletal muscle atrophy	OMIM:183050
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower...	ORPHA:98855
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Muscular dystrophy, Muscle fiber necrosis, Elevated circulating creatine kinase concentration, Li...	OMIM:616812
Inclusion Body Myositis	Inflammatory myopathy, Ragged-red muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Abnorm...	ORPHA:611
Cardiomyopathy, Dilated, 2I	Dilated cardiomyopathy, Supraventricular tachycardia, Severely reduced left ventricular ejection ...	OMIM:620462
Exercise Intolerance, Riboflavin-Responsive	Ragged-red muscle fibers	OMIM:616839
Cardiomyopathy, Dilated, 1V	Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A...	OMIM:613697
Ataxia-Deafness-Intellectual Disability Syndrome	Cerebral cortical atrophy, Decreased nerve conduction velocity, Ataxia, Skeletal muscle atrophy	ORPHA:1188
X-Linked Charcot-Marie-Tooth Disease Type 4	Impaired pain sensation, Decreased nerve conduction velocity, Ataxia, Skeletal muscle atrophy	ORPHA:101078
Mitochondrial Dna Depletion Syndrome 11	Ragged-red muscle fibers, Facial palsy, Cerebellar atrophy, Elevated circulating creatine kinase ...	OMIM:615084
Aids Wasting Syndrome	Cachexia, Skeletal muscle atrophy, Weight loss	ORPHA:90081
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia, Distal amyotrophy, Nonprogressive muscular atrophy	ORPHA:1216
Amyotrophic Lateral Sclerosis 4, Juvenile	Decreased compound muscle action potential amplitude, Axonal degeneration, Distal amyotrophy, Atr...	OMIM:602433
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9	Hoffmann sign, Babinski sign, Proximal muscle weakness in upper limbs, Distal lower limb muscle w...	OMIM:620402
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Optic atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Foot joint contracture, Sen...	ORPHA:457205
Muscle Filaminopathy	Muscle fiber splitting, Abnormality of masticatory muscle, Weakness of facial musculature, Abnorm...	ORPHA:171445
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Distal sensory impairment, Distal amyotrophy, Axonal regeneration, Decreased number of peripheral...	OMIM:607831
Alpha-B Crystallin-Related Late-Onset Myopathy	Accumulation of muscle fiber desmin, Muscle fiber inclusion bodies, Facial diplegia, Autophagic v...	ORPHA:399058
Cardiomyopathy, Dilated, 1Ee	Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume...	OMIM:613252
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function	OMIM:609909
Congenital Myopathy 24	Abnormal circulating creatine kinase concentration, Cardiomyopathy, Facial palsy, Nemaline bodies...	OMIM:617336
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Distal amyotrophy, Tremor, Fiber type grouping	OMIM:614369
Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower...	ORPHA:98853
Autosomal Dominant Spastic Paraplegia Type 73	Spastic gait, Babinski sign, Distal lower limb muscle weakness, Urinary incontinence, Lower limb ...	ORPHA:444099
Tibial Muscular Dystrophy	Steppage gait, Difficulty walking, Rimmed vacuoles, EMG: myopathic abnormalities, Increased varia...	ORPHA:609
X-Linked Charcot-Marie-Tooth Disease Type 1	Abnormal nerve conduction velocity, Impaired pain sensation, Distal upper limb amyotrophy, Ataxia...	ORPHA:101075
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hydrops fetalis, Bradycardia, Hypertrophic cardiomyopathy, Flexion contracture, Dilated cardiomyo...	OMIM:618815
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Distal sensory impairment, Hypertrophic nerve changes, Distal amyotrophy, Limb muscle weakness, D...	OMIM:118220
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Decreased mitochondrial number, Ragged-red muscle fibers, Cerebellar atrophy, Elevated circulatin...	ORPHA:352447
Cardiomyopathy, Dilated, 1Jj	Dilated cardiomyopathy, Reduced left ventricular ejection fraction	OMIM:615235
Parkinsonism With Polyneuropathy	Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Decr...	OMIM:619279
Left Ventricular Noncompaction 1	Congestive heart failure, Patent ductus arteriosus, Palpitations, Atrial fibrillation, Noncompact...	OMIM:604169
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Left atrial enlargement, Restrictive cardiomyopathy, Facial palsy, Elevated circulating creatine ...	OMIM:619424
Myopathy, Myofibrillar, 5	Muscle fiber splitting, Waddling gait, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar ...	OMIM:609524
Inclusion Body Myopathy And Brain White Matter Abnormalities	Proximal muscle weakness in upper limbs, Rimmed vacuoles, Scapular winging, Elevated circulating ...	OMIM:619733
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Muscular dystrophy, Calf muscle pseudohypertrophy, Facial palsy, EMG: myopathic abnormalities, El...	OMIM:254110
Roussy-Lévy Syndrome	Limb ataxia, Impaired temperature sensation, Impaired pain sensation, Distal amyotrophy, Gait ata...	ORPHA:3115
Spinocerebellar Ataxia 48	Babinski sign, Urinary incontinence, Cachexia, Chorea, Tremor, Cerebellar atrophy, Gait ataxia, A...	OMIM:618093
Laing Early-Onset Distal Myopathy	Weakness of orbicularis oculi muscle, EMG: myopathic abnormalities, Abnormal mitochondria in musc...	ORPHA:59135
Cardiomyopathy, Dilated, 1D	Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco...	OMIM:601494
Early-Onset X-Linked Optic Atrophy	Optic atrophy, Decreased nerve conduction velocity, Dysdiadochokinesis, Gait ataxia, Choreoatheto...	ORPHA:98890
Sensorineural Deafness With Dilated Cardiomyopathy	Abnormal cardiac ventricular function, Congestive heart failure, Dilated cardiomyopathy	ORPHA:217622
Spastic Paraplegia 17, Autosomal Dominant	First dorsal interossei muscle atrophy, Impaired distal proprioception, Impaired vibration sensat...	OMIM:270685
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Sick sinus syndrome, Bradycardia, Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Pr...	ORPHA:542306
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Hypertrophic cardiomyopathy, Failure to thrive, Arrhythmia, Dilated car...	OMIM:616198
Cardiomyopathy, Dilated, 1Kk	Congestive heart failure, Ventricular septal hypertrophy, Atrial fibrillation, Hypertrophic cardi...	OMIM:615248
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Myasthenic Syndrome, Congenital, 17	Type 1 muscle fiber predominance, Difficulty walking	OMIM:616304
Anterior Cutaneous Nerve Entrapment Syndrome	Impaired tactile sensation, Abdominal pain, Decreased body weight, Hyperesthesia, Back pain, Allo...	ORPHA:51890
Mitochondrial Dna Depletion Syndrome 18	Axonal degeneration, Tongue fasciculations, Distal amyotrophy, Clonus, Failure to thrive, Hand mu...	OMIM:618811
Charcot-Marie-Tooth Disease And Deafness	Distal sensory impairment, Distal amyotrophy, Limb muscle weakness, Thenar muscle atrophy, Thenar...	OMIM:118300
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Lower limb amyotrophy, Calf muscle hypertrophy, Cardiomyopathy, Wrist flexion contracture, Upper ...	ORPHA:206549
Spinal Muscular Atrophy, Type Ii	Degeneration of anterior horn cells, Hand tremor, Spinal muscular atrophy, Skeletal muscle atrophy	OMIM:253550
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Limb ataxia, Distal sensory impairment, Oculomotor apraxia, Axonal degeneration, Truncal ataxia, ...	OMIM:208920
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Plantar flexion contracture, Axonal degeneration, Peripheral axonal neuropathy, Diaphragmatic par...	OMIM:620011
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Muscular dystrophy, Cardiomyopathy, EMG: myopathic abnormalities, Elevated circulating creatine k...	OMIM:608807
Peripartum Cardiomyopathy	Left atrial enlargement, Hypertension, Sinus tachycardia, Heart murmur, Left ventricular hypertro...	ORPHA:563
His Bundle Tachycardia	Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia	ORPHA:3283
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Bradycardia, Atrophy/Degeneration affecting the brainstem, Brain atrophy, Hypertrophic cardiomyop...	OMIM:616277
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Decreased cervical spine flexion due to contractures of posterior cervical muscles, Type 1 muscle...	OMIM:310300
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Optic atrophy, Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Hypertrophic car...	OMIM:252011
Polymyositis	Abnormal atrioventricular conduction, Congestive heart failure, Abnormal pulmonary interstitial m...	ORPHA:732
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Distal sensory impairment, Hypertrophic nerve changes, Distal amyotrophy, Limb muscle weakness, D...	OMIM:118200
Combined Oxidative Phosphorylation Deficiency 8	Congestive heart failure, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy...	OMIM:614096
Hydrops Fetalis	Polyhydramnios, Capillary leak, Lymphedema, Pleural effusion, Ascites, Generalized edema, Pericar...	ORPHA:1041
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
Chronic Atrial And Intestinal Dysrhythmia	Left atrial enlargement, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, D...	OMIM:616201
Cardiomyopathy, Dilated, 1Hh	Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume	OMIM:613881
Ravine Syndrome	Atrophy/Degeneration affecting the brainstem, Decreased body weight, Abnormal auditory evoked pot...	ORPHA:99852
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Congestive heart failure, Abnormal Z disk morphology...	OMIM:618654
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Hypoproteinemia, Hyperammonemia, Hypocalcemia, Patent foramen ovale, Pneum...	ORPHA:26793
Cardiomyopathy, Dilated, 1Bb	Congestive heart failure, Left bundle branch block, Severely reduced left ventricular ejection fr...	OMIM:612877
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Decreased nerve conduction velocity, Axonal degeneration, Distal amyotrophy, Spinal muscular atro...	OMIM:604320
Glycogen Storage Disease Iv	Polyhydramnios, Hydrops fetalis, Abnormal circulating creatine kinase concentration, Bradycardia,...	OMIM:232500
Mitochondrial Complex I Deficiency, Nuclear Type 13	Cerebral atrophy, Bradycardia, Decreased circulating carnitine concentration, Cardiac arrest, Hyp...	OMIM:618235
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Congestive heart failure, Polyhydramnios, Respiratory distress, Ascites, Portal hypertension, Abn...	ORPHA:367
Myopathy, Sarcoplasmic Body	Sarcoplasmic bodies, Elevated circulating creatine kinase concentration, Weakness of the intrinsi...	OMIM:620286
Muscular Dystrophy, Cardiac Type	Elevated circulating creatine kinase concentration, Muscular dystrophy, Cardiomyopathy, Abnormal EKG	OMIM:309930
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Distal sensory impairment, Claw hand deformity, Impaired dis...	OMIM:601455
Myopathy, Distal, 4	Distal upper limb amyotrophy, Cardiomyopathy, Thenar muscle weakness, Skeletal muscle atrophy, Mi...	OMIM:614065
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Proximal upper limb amyotrophy, Muscular dystrophy, Proximal muscle weakness in upper limbs, Dist...	OMIM:601954
Riboflavin Transporter Deficiency	Abnormal cranial nerve morphology, Cachexia, Tremor, Facial palsy, Abnormal autonomic nervous sys...	ORPHA:97229
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Fatty replacement of ventricular myocardial tissue, Wrist flexion contracture, Nemaline bodies, E...	OMIM:620386
Autosomal Recessive Spastic Paraplegia Type 57	Optic atrophy, Distal lower limb amyotrophy, Abnormality of peripheral nerve conduction, Abnormal...	ORPHA:431329
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced...	OMIM:604772
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Muscle fiber inclusion bodies, Rimmed vacuoles, Elevated circulating creatine kinase concentratio...	OMIM:615424
Systemic Capillary Leak Syndrome	Myocarditis, Pulmonary edema, Pleural effusion, Hypotension, Pericarditis, Weight loss, Arrhythmi...	ORPHA:188
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Distal amyotrophy, Vocal cord paralysis, Hand muscle weakness, Hand muscle atrophy, Weakness of f...	OMIM:607641
Amyotrophic Lateral Sclerosis 21	Distal lower limb muscle weakness, Decreased nerve conduction velocity, Distal sensory impairment...	OMIM:606070
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Muscular dystrophy, Ankle flexion contracture, Elevated circulating creatine kinase concentration...	OMIM:617072
Myopathy, Distal, 5	Muscle fiber splitting, Distal lower limb muscle weakness, Distal amyotrophy, Rimmed vacuoles, We...	OMIM:617030
Autosomal Dominant Spastic Paraplegia Type 17	Distal sensory impairment, Distal amyotrophy, Abnormality of the foot musculature, Hand muscle we...	ORPHA:100998
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Proximal muscle weakness in upper limbs, Type 1 muscle fiber predominance, Elevated circulating c...	OMIM:613954
Hereditary Neuropathy With Liability To Pressure Palsies	Decreased motor nerve conduction velocity	ORPHA:640
Noonan Syndrome 8	Large for gestational age, Polyhydramnios, Patent ductus arteriosus, Pleural effusion, Hypertroph...	OMIM:615355
Pudendal Neuralgia	Paroxysmal rectal pain, Neuralgia, Pelvic pain, Vulvodynia, Allodynia, Scrotal pain, Anal pain, P...	ORPHA:60039
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscl...	ORPHA:488650
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Inability to walk, Ragged-red muscle fibers, Abnormality of extrapyramidal motor function, Atheto...	OMIM:615159
Amyotrophic Lateral Sclerosis 20	Muscular dystrophy, Rimmed vacuoles, Amyotrophic lateral sclerosis, Muscle fiber inclusion bodies	OMIM:615426
Childhood-Onset Nemaline Myopathy	Generalized limb muscle atrophy, Polyhydramnios, Facial diplegia, Scapular winging, EMG: myopathi...	ORPHA:171439
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Heart block, Cardiomyopathy, Weakness of the intrinsic h...	ORPHA:98912
Heart-Hand Syndrome, Slovenian Type	Dilated cardiomyopathy, Myopathy	OMIM:610140
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Cardiomyopathy, Increased variability in muscle...	OMIM:613752
Coenzyme Q10 Deficiency, Primary, 7	Bradycardia, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Ventricular septal defect, Hy...	OMIM:616276
Hypertrophic Neuropathy Of Dejerine-Sottas	Decreased sensory nerve conduction velocity, Distal lower limb muscle weakness, Distal sensory im...	OMIM:145900
Benign Schwannoma	Abnormality of the twelfth cranial nerve, Peripheral schwannoma, Abnormal cranial nerve morpholog...	ORPHA:252164
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Axonal degeneration, Peripheral axonal neuropathy, Intrinsic hand muscle atrophy, Decreased muscl...	OMIM:615490
Nemaline Myopathy 2	Muscle fiber splitting, Calf muscle pseudohypertrophy, Rimmed vacuoles, Arthrogryposis multiplex ...	OMIM:256030
Myopathy, Autophagic Vacuolar, Infantile-Onset	Elevated circulating creatine kinase concentration, Autophagic vacuoles, Myopathy, Hypertrophic c...	OMIM:609500
Monomelic Amyotrophy	Degeneration of anterior horn cells, Distal upper limb amyotrophy, Tremor, Abnormality of periphe...	ORPHA:65684
Striatonigral Degeneration, Infantile, Mitochondrial	Babinski sign, Difficulty walking, Ragged-red muscle fibers, Chorea, Incoordination, Lingual dyst...	OMIM:500003
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Congestive heart failure, Ragged-red muscle fibers, Hypertension, Increased serum pyruvate, Hyper...	ORPHA:1349
3-Methylglutaconic Aciduria, Type V	Optic atrophy, Atrial septal defect, Congestive heart failure, Prolonged QT interval, Noncompacti...	OMIM:610198
Null Syndrome	Optic atrophy, Decreased nerve conduction velocity, Ataxia, Abnormality of peripheral nerve condu...	ORPHA:280234
Charcot-Marie-Tooth Disease Type 1F	Optic nerve hypoplasia, Positive Romberg sign, Gait ataxia, Flexion contracture of finger, Decrea...	ORPHA:101085
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Ragged-red muscle fibers, Cachexia, Abdominal pain, Slender build, Ataxia, Weight loss	OMIM:613662
Absence Of The Pulmonary Artery	Abnormal heart morphology, Cardiomegaly, Abnormal cardiac septum morphology, Patent foramen ovale...	ORPHA:980
Spinocerebellar Ataxia, Autosomal Recessive 32	Limb ataxia, Hypomimic face, Abnormal nerve conduction velocity, Torticollis, Atrophy/Degeneratio...	OMIM:619862
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Foot dorsiflexor weakne...	OMIM:181400
Rhabdomyolysis, Susceptibility To, 1	Type 2 muscle fiber predominance, Abnormal circulating acylcarnitine concentration, Elevated circ...	OMIM:620235
Long Qt Syndrome 15	2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi...	OMIM:616249
Muscular Dystrophy, Duchenne Type	Muscular dystrophy, Congestive heart failure, Calf muscle pseudohypertrophy, Calf muscle hypertro...	OMIM:310200
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Hydrops fetalis, Chylopericardium, Respiratory distress, Pleural effusi...	ORPHA:2414
Spinal Cord Injury	Spasticity, Dysesthesia, Abnormal autonomic nervous system physiology, Allodynia, Weakness due to...	ORPHA:90058
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Decreased circulating carnitine concentration	OMIM:611283
Glycogen Storage Disease Ii	Increased muscle glycogen content, Wolff-Parkinson-White syndrome, Increased circulating NT-proBN...	OMIM:232300
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Distal sensory impairment, Ragged-red muscle fibers, Cachexia, Distal amyotrophy, Abdominal pain,...	OMIM:603041
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Hip flexor weakness, Inability to walk, Facial hypotonia, Autophagic vacuoles, EMG: myopathic abn...	ORPHA:266
Congenital Myopathy 1B, Autosomal Recessive	Muscular dystrophy, Polyhydramnios, Hydrops fetalis, Type 1 and type 2 muscle fiber minicore regi...	OMIM:255320
Barth Syndrome	Abnormal mitochondrial morphology, Dilated cardiomyopathy, Endocardial fibroelastosis	ORPHA:111
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Muscle fiber splitting, Scapular winging, Elevated circulating creatine kinase concentration, Inc...	OMIM:618129
Glycogen Storage Disease Due To Lamp-2 Deficiency	Dilated cardiomyopathy, Hypertrophic cardiomyopathy	ORPHA:34587
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Rimmed vacuoles, Skeletal muscle fibrosis, Myofibrillar myopathy, Increased variability in muscle...	ORPHA:34516
Muscular Dystrophy, Congenital, Megaconial Type	Muscular dystrophy, Facial palsy, Elevated circulating creatine kinase concentration, Mitochondri...	OMIM:602541
Myopathy, Centronuclear, 1	Proximal upper limb amyotrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle...	OMIM:160150
Cardiomyopathy, Dilated, 1E	Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr...	OMIM:601154
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Muscular dystrophy, Elevated circulating creatine concentration, Rimmed vacuoles, Scapular wingin...	OMIM:608423
Amyotrophic Lateral Sclerosis 16, Juvenile	Amyotrophic lateral sclerosis, Weakness of the intrinsic hand muscles, Lower limb muscle weakness	OMIM:614373
Myasthenic Syndrome, Congenital, 14	Knee flexion contracture, Ragged-red muscle fibers, Scapular winging, Muscle fiber tubular inclus...	OMIM:616228
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Distal sensory impairment, Axonal degeneration, Upper limb muscle weakness, Foot dorsiflexor weak...	OMIM:616155
Carvajal Syndrome	Congestive heart failure, Dilated cardiomyopathy	ORPHA:65282
Coenzyme Q10 Deficiency, Primary, 5	Cerebral atrophy, Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia, Cerebellar atr...	OMIM:614654
Carnitine-Acylcarnitine Translocase Deficiency	Bradycardia, Ventricular hypertrophy, Cardiomyopathy, Cardiac arrest, Premature ventricular contr...	OMIM:212138
Congenital Myopathy 14	Knee flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diamet...	OMIM:618414
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	Muscle fiber splitting, Muscular dystrophy, Rimmed vacuoles, Scapular winging, Elevated circulati...	OMIM:601846
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Supraventricular arrhythmia, Distal lower limb muscle weakness, Cardiomyopathy, Leg muscle stiffness	ORPHA:320360
Charcot-Marie-Tooth Disease, Axonal, Type 2Z	Distal sensory impairment, Impaired distal proprioception, Distal amyotrophy, Impaired distal vib...	OMIM:616688
Nathalie Syndrome	Skeletal muscle atrophy, Abnormal EKG	OMIM:255990
Finnish Upper Limb-Onset Distal Myopathy	Steppage gait, Difficulty walking, Clumsiness, Amyotrophy of ankle musculature, Rimmed vacuoles, ...	ORPHA:399086
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Proximal upper limb amyotrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Flexion limitatio...	OMIM:609115
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar...	ORPHA:3282
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Neuronal loss in central nervous system, Proximal amyotrophy, Amyotrophic lateral sclerosis	OMIM:608030
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Acute rhabdomyolysis, Cerebral atrophy, Peripheral hypomyelination, Axonal degeneration, Chorea, ...	OMIM:604168
Myopathy, Myofibrillar, 8	Recurrent lower respiratory tract infections, Central core regions in muscle fibers, Joint contra...	OMIM:617258
Wild Type Abeta2M Amyloidosis	Decreased nerve conduction velocity, Abnormality of the thenar eminence, Abnormal tendon morpholo...	ORPHA:85446
Combined Oxidative Phosphorylation Deficiency 31	Hyperalaninemia, Hypertrophic cardiomyopathy, Increased variability in muscle fiber diameter, Fai...	OMIM:617228
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Muscular dystrophy, Bradycardia, Atrial fibrillation, Increased variability in muscle fiber diame...	OMIM:614302
Hemochromatosis, Type 1	Congestive heart failure, Azoospermia, Cardiomyopathy, Pleural effusion, Ascites, Increased circu...	OMIM:235200
Infant Acute Respiratory Distress Syndrome	Pulmonary edema, Atelectasis, Bradycardia, Tachycardia, Cardiac arrest, Hypotension, Nasal flarin...	ORPHA:70587
King-Denborough Syndrome	Ventricular septal defect, Elevated circulating creatine kinase concentration, Failure to thrive,...	OMIM:619542
Atrial Fibrillation, Familial, 10	Paroxysmal atrial fibrillation, Left atrial enlargement, Atrial flutter, Bradycardia, Permanent a...	OMIM:614022
Distal Nebulin Myopathy	Ankle flexion contracture, Cardiomyopathy, EMG: myopathic abnormalities, Weakness of the intrinsi...	ORPHA:399103
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16	Ankle flexion contracture, Calf muscle pseudohypertrophy, Calf muscle hypertrophy, Waddling gait,...	ORPHA:280333
Myofibrillar Myopathy 11	Type 1 muscle fiber predominance, Calf muscle hypertrophy, EMG: myopathic abnormalities, Increase...	OMIM:619178
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Cerebral atrophy, Bradycardia, Ragged-red muscle fibers, Cardiomyopathy, EMG: myopathic abnormali...	OMIM:609286
Attrv122I Amyloidosis	Abnormal atrioventricular conduction, Congestive heart failure, Increased circulating NT-proBNP c...	ORPHA:85451
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Hippocampal atrophy, Amyotrophic lateral sclerosis, Skeletal muscle atrophy, Caudate atrophy	OMIM:617892
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Decreased sensory nerve conduction velocity, Distal sensory impairment, Chronic axonal neuropathy...	OMIM:162400
Microcephaly-Cardiomyopathy	Dilated cardiomyopathy	OMIM:251220
Cardiomyopathy, Dilated, 2C	Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced left ventricular ejection fraction	OMIM:618189
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Ankle flexion contracture, Central core regions in muscle fibers, Nemaline bodies, Increased vari...	OMIM:117000
Cardiomyopathy, Dilated, 1K	Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm	OMIM:605582
Spastic Paraplegia 85, Autosomal Recessive	Optic atrophy, Babinski sign, Impaired proprioception, Urinary incontinence, Torticollis, Lower l...	OMIM:619686
Autosomal Recessive Spastic Paraplegia Type 25	Neck pain, Paraparesis, Spastic paraplegia, Lower limb pain, Abnormality of peripheral nerve cond...	ORPHA:101005
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Muscle fiber splitting, Ankle flexion contracture, Calf muscle hypertrophy, Rimmed vacuoles, Incr...	OMIM:617760
Juvenile Amyotrophic Lateral Sclerosis	Hypertonia, Urinary incontinence, Lower limb spasticity, Retrocollis, Lower-limb joint contractur...	ORPHA:300605
Pleural Mesothelioma	Abnormal cardiovascular system physiology, Respiratory distress, Pleural effusion, Abnormal lung ...	ORPHA:50251
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Patent foramen ovale, Bradycardia	OMIM:617182
Kufor-Rakeb Syndrome	Bradykinesia, Babinski sign, Hypertonia, Distal sensory impairment, Torticollis, Spasticity, Park...	OMIM:606693
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular septal hypertrophy, Palpitations, ST segment elevation, Ventricular hypertrophy, Card...	ORPHA:263297
Alpers-Huttenlocher Syndrome	Spasticity, Progressive spasticity, Paraparesis, Ataxia, Myoclonus, Spastic paraparesis, Choreoat...	ORPHA:726
X-Linked Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower...	ORPHA:98863
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Distal amyotrophy, Amyotrophic lateral sclerosis	OMIM:205200
Digital Extensor Muscle Aplasia-Polyneuropathy	Muscular dystrophy, Abnormal nerve conduction velocity, Impaired pain sensation, Aplasia/Hypoplas...	ORPHA:2926
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lower-limb joint contracture, Paralysis, Difficulty walking, Skeletal muscle atrophy	OMIM:613710
X-Linked Centronuclear Myopathy	Polyhydramnios, Respiratory distress, Necklace skeletal muscle fibers, Type 1 fibers relatively s...	ORPHA:596
Congenital Muscular Dystrophy, Fukuyama Type	Optic atrophy, Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Camptodactyly of fing...	ORPHA:272
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Amyotrophic lateral sclerosis, Skeletal muscle atrophy	OMIM:205250
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Decreased distal sensory nerve action potential, Peripheral axonal neuropathy, Distal amyotrophy,...	OMIM:618400
Ataxia-Pancytopenia Syndrome	Decreased nerve conduction velocity, Distal sensory impairment, Impaired vibration sensation in t...	OMIM:159550
Cardiomyopathy, Dilated, 1Ii	Elevated circulating creatine kinase concentration, Ventricular tachycardia, Increased left ventr...	OMIM:615184
Spastic Ataxia 4, Autosomal Recessive	Optic atrophy, Babinski sign, Limb ataxia, Gait ataxia, Lower limb hypertonia, Spastic ataxia, Sp...	OMIM:613672
Isobutyryl-Coa Dehydrogenase Deficiency	Decreased circulating carnitine concentration, Dehydration, Pulmonic stenosis, Elevated circulati...	ORPHA:79159
Hemochromatosis, Type 2A	Congestive heart failure, Azoospermia, Cardiomyopathy, Increased circulating iron concentration, ...	OMIM:602390
Tibial Muscular Dystrophy, Tardive	Muscular dystrophy, Steppage gait, Tibialis anterior muscle atrophy, Rimmed vacuoles, EMG: myopat...	OMIM:600334
Myopathy, Centronuclear, 4	Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Abnormal circulatin...	OMIM:614807
Loeffler Endocarditis	Left atrial enlargement, Abnormal morphology of the chordae tendinae of the mitral valve, Myocard...	ORPHA:75566
Mast Syndrome	Cerebral atrophy, Babinski sign, Hypertonia, Apraxia, Incoordination, Dysdiadochokinesis, Athetos...	OMIM:248900
Amyotrophic Lateral Sclerosis	Babinski sign, Progressive spinal muscular atrophy, Fasciculations, Cachexia, Spasticity, Progres...	ORPHA:803
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Abnormal anterior horn cell morphology, Inflammatory myopathy, Respira...	ORPHA:1145
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Optic atrophy, Decreased nerve conduction velocity, Distal sensory impairment, Distal amyotrophy,...	OMIM:612674
Oculopharyngeal Muscular Dystrophy 1	Ragged-red muscle fibers, Facial palsy, Gait disturbance, Limb muscle weakness	OMIM:164300
Amyotrophic Lateral Sclerosis 1	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Skeletal muscle atrophy, Dege...	OMIM:105400
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ...	OMIM:613496
Cardiomyopathy, Dilated, 1G	Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat...	OMIM:604145
Timothy Syndrome	Prolonged QT interval, Cardiomegaly, Bradycardia, Hypocalcemia, Bronchitis, Patent foramen ovale,...	OMIM:601005
Atrial Standstill 1	Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d...	OMIM:108770
Histiocytoid Cardiomyopathy	Optic atrophy, Pulmonary edema, Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial ...	ORPHA:137675
Long Qt Syndrome 16	Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ...	OMIM:618782
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Progressive distal muscular atrophy, Facial palsy, Spinal muscular atrophy, Elevated circulating ...	OMIM:159950
Mitochondrial Complex I Deficiency, Nuclear Type 6	Optic atrophy, Brain atrophy, Failure to thrive, Apnea, Ataxia, Skeletal muscle atrophy, Left ven...	OMIM:618228
Progressive Familial Heart Block, Type Ia	Complete heart block with broad QRS complexes, Left anterior fascicular block, Left posterior fas...	OMIM:113900
Amyotrophic Lateral Sclerosis 9	Distal amyotrophy, Amyotrophic lateral sclerosis	OMIM:611895
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Cerebral cortical atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis,...	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Cerebral cortical atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis,...	OMIM:616437
Coronary Arterial Fistula	Aortic valve stenosis, Abnormal heart morphology, Cardiomegaly, Bicuspid aortic valve, Right vent...	ORPHA:2041
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers, Fatty replacement o...	OMIM:618823
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Supraventricular tachycardia, Cardiomyopathy, Elevated circulating creatine kinase concentration,...	OMIM:255100
Naxos Disease	Congestive heart failure, Right ventricular cardiomyopathy, Cardiomegaly, Paroxysmal ventricular ...	OMIM:601214
Car T Cell Therapy-Associated Cytokine Release Syndrome	Pulmonary edema, Heart block, Elevated circulating creatinine concentration, Reduced left ventric...	ORPHA:542323
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Muscle fiber necrosis,...	OMIM:253700
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Paralysis, Distal lower limb muscle weakness	OMIM:158590
Congenital Myopathy 18	Elevated circulating creatine kinase concentration, Increased variability in muscle fiber diamete...	OMIM:620246
Spastic Paraplegia 75, Autosomal Recessive	Optic atrophy, Spastic gait, Babinski sign, Spastic dysarthria, Spasticity, Impaired distal vibra...	OMIM:616680
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Dilated cardiomyopathy, Decreased body weight	OMIM:618097
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Distal lower limb muscle weakness, Distal sensory impairment, Decreased compound muscle action po...	OMIM:618279
Zebra Body Myopathy	Muscle fiber splitting, Torticollis, Rimmed vacuoles, Autophagic vacuoles, EMG: myopathic abnorma...	ORPHA:97240
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	EMG: myopathic abnormalities, Limb muscle weakness, Increased variability in muscle fiber diamete...	ORPHA:486815
Familial Dyskinesia And Facial Myokymia	Congestive heart failure, Facial myokymia, Dilated cardiomyopathy, Limb hypertonia	ORPHA:324588
Muscular Dystrophy, Limb-Girdle, Type 1H	Muscular dystrophy, Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, ...	OMIM:613530
Familial Idiopathic Dilatation Of The Right Atrium	Paroxysmal atrial fibrillation, Cardiomegaly, Reduced left ventricular ejection fraction, Abnorma...	ORPHA:1677
Desminopathy	Congestive heart failure, Distal lower limb muscle weakness, Concentric hypertrophic cardiomyopat...	ORPHA:98909
Nemaline Myopathy 6	Facial palsy, Nemaline bodies, Limb muscle weakness, Gait disturbance, Skeletal muscle atrophy, M...	OMIM:609273
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Hydrops fetalis, Elevated circulating creatine kinase concentration, Hy...	OMIM:609015
Nephronophthisis 16	Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R...	OMIM:615382
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Abnormal circulating creatine kinase concentration, Increased variability in muscle fiber diamete...	OMIM:618484
Charcot-Marie-Tooth Disease, Type 4B2	Distal sensory impairment, Distal amyotrophy, Decreased number of peripheral myelinated nerve fib...	OMIM:604563
Scorpion Envenomation	Myocarditis, Pulmonary edema, Congestive heart failure, Increased circulating NT-proBNP concentra...	ORPHA:466677
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Cardiomyopathy, Dilated, 2B	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e...	OMIM:614672
Distal Myotilinopathy	Distal amyotrophy, Cardiomyopathy, EMG: myopathic abnormalities, Abnormal muscle fiber myotilin, ...	ORPHA:98911
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Impaired pain sensation, Sensory axonal neuropathy, Distal amyotrophy, Abnormal autonomic nervous...	ORPHA:139578
Cataract-Ataxia-Deafness Syndrome	Decreased nerve conduction velocity, Ataxia	ORPHA:1368
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cerebral atrophy, Respiratory distress, Brain atrophy, Gliosis, Neuronal loss in central nervous ...	OMIM:604377
Sinoatrial Node Dysfunction And Deafness	Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia	OMIM:614896
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Polyhydramnios, Hydrops fetalis, Pleural effusion, Ascites, Hypertrophic cardiomyopathy, Pulmonar...	OMIM:616897
Cardiomyopathy, Dilated, 1A	Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc...	OMIM:115200
Tubular Aggregate Myopathy	Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Increased variability in muscle fi...	ORPHA:2593
Proximal Myopathy With Extrapyramidal Signs	Difficulty walking, Central core regions in muscle fibers, Progressive extrapyramidal muscular ri...	ORPHA:401768
Adrenoleukodystrophy	Limb ataxia, Urinary incontinence, Impaired vibration sensation at ankles, Incoordination, Trunca...	OMIM:300100
Acute Interstitial Pneumonia	Peripheral edema, Elevated circulating creatinine concentration, Atelectasis, Elevated circulatin...	ORPHA:79126
Hereditary Continuous Muscle Fiber Activity	Congenital diaphragmatic hernia, Spastic gait, Ataxia, Type 1 muscle fiber predominance, Slurred ...	ORPHA:972
Myoclonus, Intractable, Neonatal	Chorea, Athetosis, Increased variability in muscle fiber diameter, Apnea, Optic disc pallor	OMIM:617235
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Ankle flexion contracture, Elevated circulating creatine kinase concentration, Hyperammonemia, Rh...	OMIM:618120
Cerebral Creatine Deficiency Syndrome 2	Hypertonia, Lower limb spasticity, Tremor, Paraparesis, Progressive extrapyramidal movement disor...	OMIM:612736
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Reduced left ventricular...	OMIM:608751
Congenital Myopathy 22A, Classic	Polyhydramnios, Bradycardia, Ragged-red muscle fibers, Scapular winging, Congenital finger flexio...	OMIM:620351
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Left ventricular systolic dysfunction, Calf muscle pseudohypertrophy, Calf muscle hypertrophy, Sc...	ORPHA:353
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Hypomimic face, Cerebral atrophy, Cerebellar atrophy, Gait ataxia, Low anterior hairline, Central...	ORPHA:320385
Congenital Myopathy 20	Scapular winging, Nemaline bodies, Congenital contracture, Increased variability in muscle fiber ...	OMIM:620310
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re...	OMIM:604387
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial se...	OMIM:617912
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Muscle fiber splitting, Babinski sign, Lower limb amyotrophy, Ragged-red muscle fibers, Rimmed va...	OMIM:616924
Miyoshi Muscular Dystrophy 1	Tip-toe gait, Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Distal amyotro...	OMIM:254130
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Right bundle branch block, Abnormal heart morphology, Tetralogy...	OMIM:614954
Mitochondrial Complex I Deficiency, Nuclear Type 14	Optic atrophy, Brain atrophy, Apnea, Myopathy	OMIM:618236
Cardiomyopathy, Dilated, 2F	Congestive heart failure, Increased left ventricular end-diastolic volume, Increased circulating ...	OMIM:619747
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Muscular dystrophy, Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, ...	OMIM:607155
Myopathy, Scapulohumeroperoneal	Facial palsy, Scapular winging, Nemaline bodies, Increased variability in muscle fiber diameter, ...	OMIM:616852
Alexander Disease Type I	Cachexia, Spasticity, Cerebellar atrophy, Failure to thrive, Ataxia, Abnormal pyramidal sign, Pal...	ORPHA:363717
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Ragged-red muscle fibers, Spasticity, Ataxia, Myoclonus, Myopathy	OMIM:545000
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy, Abnormal autonomic nervous system physiology, Weight loss, Arrhythm...	ORPHA:85447
Sick Sinus Syndrome 2	Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P...	OMIM:163800
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Sudden episodic apnea, Respiratory distress, Apneic episodes precipitated by illness, fatigue, st...	OMIM:605809
Barth Syndrome	Congestive heart failure, Recurrent bronchitis, Tricuspid regurgitation, Hypertrophic cardiomyopa...	OMIM:302060
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Distal amyotrophy, Rimmed vacuoles, Scapular winging, Facial palsy, Gait disturbance, Limb muscle...	OMIM:167320
Sudden Cardiac Failure, Infantile	Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocardial fibro...	OMIM:617222
Gitelman Syndrome	Hypermagnesemia, Prolonged QT interval, Hypokalemia, Respiratory distress, Prominent U wave, Hypo...	ORPHA:358
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Impaired vibratory sensation, Quadriceps muscle weakness, Proximal muscle weakness in lower limbs...	ORPHA:101097
Spinal Muscular Atrophy, X-Linked 2	Decreased compound muscle action potential amplitude, Facial palsy, Spinal muscular atrophy, Elev...	OMIM:301830
Lethal Congenital Contracture Syndrome 5	Polyhydramnios, Decreased nerve conduction velocity, Elevated circulating creatine kinase concent...	OMIM:615368
Acyl-Coa Dehydrogenase 9 Deficiency	Congestive heart failure, Cerebellar hemorrhage, Decreased circulating carnitine concentration, E...	ORPHA:99901
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Myopa...	OMIM:618992
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Atrophy/Degeneration involving the spinal cord, Ragged-red muscle fibers, Scapular winging, Muscl...	OMIM:607459
Spastic Paraparesis-Deafness Syndrome	Impaired pain sensation, Hemiplegia/hemiparesis, Spastic paraparesis, Ataxia	ORPHA:2815
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal QRS complex, Large for gestational age, Hydrops fe...	ORPHA:45452
Congenitally Corrected Transposition Of The Great Arteries	Mesocardia, Bradycardia, Pulmonic stenosis, Abnormal heart morphology, Discordant atrioventricula...	ORPHA:216694
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract	Cerebral atrophy, Failure to thrive, Apneic episodes in infancy, Flexion contracture	ORPHA:500545
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Optic atrophy, Babinski sign, Progressive cerebellar ataxia, Frequent falls, Lower limb hypertoni...	ORPHA:254343
Complete Atrioventricular Septal Defect	Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car...	ORPHA:1329
Autosomal Recessive Centronuclear Myopathy	Abnormal heart valve morphology, Facial diplegia, Scapular winging, Facial palsy, Generalized amy...	ORPHA:169186
Christianson Syndrome	Truncal ataxia, Cachexia, Neuronal loss in central nervous system, Cerebellar atrophy, Gait ataxi...	ORPHA:85278
Charcot-Marie-Tooth Disease Type 4D	Distal lower limb muscle weakness, Distal sensory impairment, Lower limb amyotrophy, Decreased am...	ORPHA:99950
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch...	OMIM:616002
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Amyotrophic lateral sclerosis, Limb muscle weakness	OMIM:619141
Cardiomyopathy, Dilated, 1Q	Dilated cardiomyopathy	OMIM:609915
Cardiomyopathy, Dilated, 1H	Dilated cardiomyopathy	OMIM:604288
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ...	OMIM:612240
Brugada Syndrome 2	Right bundle branch block, Ventricular fibrillation, Prolonged PR interval, Syncope, First degree...	OMIM:611777
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Neurotrophic Keratopathy	Abnormal fifth cranial nerve morphology, Allodynia, Hyperesthesia	ORPHA:137596
Cocaine Intoxication	Pneumothorax, Pulmonary edema, Ischemic stroke, Prolonged QT interval, Respiratory distress, Supr...	ORPHA:90068
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Waddling gait, Gait disturbance, Increased variability in muscle fiber diameter, Myopathy, Proxim...	ORPHA:1878
Hepatorenocardiac Degenerative Fibrosis	Enlarged kidney, Tubular luminal dilatation, Renal cyst, Hepatosplenomegaly, Hyperechogenic kidne...	OMIM:619902
Lethal Congenital Contracture Syndrome 2	Polyhydramnios, Ventricular septal defect, Skeletal muscle atrophy, Edema, Dilated cardiomyopathy...	OMIM:607598
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Muscular dystrophy, Prolonged QT interval, Bradycardia, Skeletal muscle hyp...	OMIM:613327
Amyotrophic Lateral Sclerosis 18	Amyotrophic lateral sclerosis, Skeletal muscle atrophy	OMIM:614808
Combined Oxidative Phosphorylation Deficiency 13	Decreased nerve conduction velocity, Skeletal muscle atrophy, Choreoathetosis	OMIM:614932
Congenital Myopathy 23	Difficulty walking, Facial diplegia, Scapular winging, Waddling gait, Nemaline bodies, Limb muscl...	OMIM:609285
Glut1 Deficiency Syndrome 1	Babinski sign, Paroxysmal dystonia, Spasticity, Hemiparesis, Ataxia, Myoclonus, Paralysis, Choreo...	OMIM:606777
Krabbe Disease	Optic atrophy, Decreased nerve conduction velocity, Abnormal flash visual evoked potentials, Fail...	OMIM:245200
Myopathy, Distal, 3	Muscular dystrophy, Steppage gait, Distal amyotrophy, Rimmed vacuoles, EMG: myopathic abnormaliti...	OMIM:610099
Myasthenic Syndrome, Congenital, 6, Presynaptic	Sudden episodic apnea, Respiratory distress, Apneic episodes precipitated by illness, fatigue, st...	OMIM:254210
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Reduced left ventricular ejection fraction, Premature ventricular contr...	OMIM:620247
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr...	OMIM:616117
Amyotrophic Lateral Sclerosis 5, Juvenile	Distal amyotrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:602099
Congenital Myopathy 3 With Rigid Spine	Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Facial palsy, Decreased body...	OMIM:602771
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased sensory nerve conduction velocity, Decreased nerve conduction velocity, Interictal epil...	OMIM:218000
Cardiomyopathy, Familial Hypertrophic, 6	Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril...	OMIM:600858
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Muscular dystrophy, Calf muscle hypertrophy, Hypoglycosylation of alpha-dystroglycan, Cardiomyopa...	OMIM:609308
Avian Influenza	Pneumothorax, Congestive heart failure, Myelitis, Elevated circulating C-reactive protein concent...	ORPHA:454836
Atrial Septal Defect, Sinus Venosus Type	Congestive heart failure, Atrial flutter, Automatic atrial tachycardia, Atrial fibrillation, Supr...	ORPHA:99105
Primary Angiitis Of The Central Nervous System	Paraparesis, Constitutional symptom, Hemiparesis, Ataxia, Parkinsonism, Paralysis, Tetraparesis, ...	ORPHA:140989
Congenital Gerbode Defect	Congestive heart failure, Perimembranous ventricular septal defect, Abnormal tricuspid valve leaf...	ORPHA:99095
Spastic Ataxia 5, Autosomal Recessive	Oculomotor apraxia, Spasticity, Dysdiadochokinesis, Distal amyotrophy, Cerebellar atrophy, Increa...	OMIM:614487
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Congestive heart failure, Facial myokymia, Dilated cardiomyopathy, Limb hypertonia	OMIM:606703
Ethylene Glycol Poisoning	Hyperkalemia, Pulmonary edema, Congestive heart failure, Renal tubular epithelial necrosis, Prolo...	ORPHA:31826
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Inability to walk, Tongue fasciculations, Spasticity, Dystonia, Ataxia, Skeletal muscle atrophy, ...	OMIM:618276
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi...	ORPHA:45453
Amoebiasis Due To Free-Living Amoebae	Facial palsy, Myocardial necrosis, Abnormal spinal cord morphology, Cerebral edema, Respiratory t...	ORPHA:68
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Weakness of facial mu...	ORPHA:457050
Amyotrophic Lateral Sclerosis 2, Juvenile	Generalized dystonia, Retrocollis, Abnormal upper motor neuron morphology, Distal amyotrophy, Spa...	OMIM:205100
Oculopharyngodistal Myopathy 1	Paroxysmal atrial fibrillation, Respiratory distress, Brain atrophy, Distal amyotrophy, Rimmed va...	OMIM:164310
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal QRS complex, Abnormality of blood circulation, Abnormal mitral valve morphology, Heart m...	ORPHA:860
Merrf	Ragged-red muscle fibers, Ataxia, Myopathy	ORPHA:551
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Muscular dystrophy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal ...	OMIM:617066
Vocal Cord And Pharyngeal Distal Myopathy	Decreased nerve conduction velocity, Distal sensory impairment, Aspiration, Distal upper limb amy...	ORPHA:600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Increased variability i...	OMIM:253601
Amyotrophy, Hereditary Neuralgic	Brachial plexus neuropathy, Peripheral axonal degeneration, Skeletal muscle atrophy, Axonal degen...	OMIM:162100
Dk1-Cdg	Congestive heart failure, Failure to thrive, Cardiomyocyte hypertrophy, Interstitial cardiac fibr...	ORPHA:91131
Spinocerebellar Ataxia 40	Pontocerebellar atrophy, Dysdiadochokinesis, Tremor, Intention tremor, Gait ataxia, Ataxia, Ankle...	OMIM:616053
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Chronic pain, Impaired proprioception, Truncal titubation, Abnormal peripheral nerve morphology b...	ORPHA:88628
Myopathy, Myofibrillar, 2	Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Hypertrophic cardiomyop...	OMIM:608810
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Decreased nerve conduction velocity, Cachexia, Abnormality of visual evoked potentials, Ataxia, S...	ORPHA:1933
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Muscle fiber splitting, Muscular dystrophy, Rimmed vacuoles, Facial palsy, Waddling gait, Loss of...	OMIM:603511
Bardet-Biedl Syndrome 2	Bicuspid aortic valve, Atrial septal defect, Dilated cardiomyopathy, Obesity	OMIM:615981
Sick Sinus Syndrome 4	Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma...	OMIM:619464
Cardiomyopathy, Dilated, 1S	Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec...	OMIM:613426
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Distal amyotrophy, Rimmed vacuoles, Tremor, Limb mus...	OMIM:619473
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Ragged-red muscle fibers, Facial palsy, Proximal muscle weakness in lower limbs	OMIM:616209
Congenital Anomalies Of Kidney And Urinary Tract 3	Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl...	OMIM:618270
Long-Olsen-Distelmaier Syndrome	Congestive heart failure, Optic nerve hypoplasia, Hyperammonemia, Failure to thrive, Secundum atr...	OMIM:620609
Adult-Onset Distal Myopathy Due To Vcp Mutation	Decreased nerve conduction velocity, Abnormality of the musculature of the lower limbs, Necrotizi...	ORPHA:329478
Autosomal Recessive Spastic Paraplegia Type 21	Frontotemporal cerebral atrophy, Abnormality of peripheral nerve conduction, Lower limb muscle we...	ORPHA:101001
X-Linked Charcot-Marie-Tooth Disease Type 2	Babinski sign, Distal lower limb muscle weakness, Distal lower limb amyotrophy, Distal sensory im...	ORPHA:101076
Amyotrophic Lateral Sclerosis 8	Neuronal loss in central nervous system, Distal amyotrophy, Proximal amyotrophy, Skeletal muscle ...	OMIM:608627
Congenital Enterovirus Infection	Myocarditis, Polyhydramnios, Hydrops fetalis, Respiratory distress, Pleural effusion, Cardiomyopa...	ORPHA:292
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal autonomic nervous system physiology, Abnormal heart morphol...	ORPHA:85443
Spastic Ataxia, Charlevoix-Saguenay Type	Decreased sensory nerve conduction velocity, Distal sensory impairment, Cerebellar vermis atrophy...	OMIM:270550
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Angulated muscle fibers, Scapular winging, Shoulder girdle muscle weakness, Weakness of facial mu...	OMIM:619477
Congenital Muscular Dystrophy Due To Lmna Mutation	Flexion contracture, Cachexia, Myopathy, Skeletal muscle atrophy	ORPHA:157973
Amyloidosis, Hereditary, Transthyretin-Related	Pulmonary edema, Cardiomyopathy, Abnormal autonomic nervous system physiology, Orthostatic hypote...	OMIM:105210
Cap Myopathy	Lower limb amyotrophy, Sinus tachycardia, Facial palsy, Reduced systolic function, Increased vari...	ORPHA:171881
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Pleural effusion, Constrictive pericarditis	OMIM:602248
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Optic atrophy, Limb hypertonia, Bradycardia, Neuronal loss in central nervous system, Gliosis, Ab...	OMIM:614498
Combined Oxidative Phosphorylation Defect Type 13	Ankle flexion contracture, Decreased nerve conduction velocity, Lower limb hypertonia, Hip contra...	ORPHA:319514
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Hypomimic face, Cerebral atrophy, Gait ataxia, Low anterior hairline, Central apnea, Dysmetria	OMIM:615031
Amyotrophic Lateral Sclerosis 27, Juvenile	Tip-toe gait, Steppage gait, Lower limb spasticity, Tongue fasciculations, Scapular winging, Gait...	OMIM:620285
Cardiomyopathy, Familial Hypertrophic, 26	Left atrial enlargement, Congestive heart failure, Left anterior fascicular block, Left bundle br...	OMIM:617047
Oculopharyngodistal Myopathy 2	Rimmed vacuoles, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, We...	OMIM:618940
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ...	OMIM:608758
Spinocerebellar Ataxia 1	Optic atrophy, Limb ataxia, Decreased sensory nerve conduction velocity, Impaired proprioception,...	OMIM:164400
Huntington Disease-Like 2	Chorea, Involuntary movements, Cerebral cortical atrophy, Parkinsonism, Weight loss, Caudate atrophy	ORPHA:98934
Basal Ganglia Disease, Biotin-Thiamine Responsive	Babinski sign, Hypertonia, Truncal titubation, Chorea, Facial palsy, Frequent falls, Gait ataxia,...	OMIM:607483
Glycogen Storage Disease 0, Muscle	Left ventricular hypertrophy, Left atrial enlargement, Cardiomyopathy, Decreased muscle glycogen ...	OMIM:611556
Myopathy, Centronuclear, 2	Facial palsy, EMG: myopathic abnormalities, Scapular winging, Generalized amyotrophy, Centrally n...	OMIM:255200
Isolated Atp Synthase Deficiency	Optic atrophy, Respiratory distress, Cerebellar atrophy, Hyperalaninemia, Hypertrophic cardiomyop...	ORPHA:254913
Glycogen Storage Disease Xv	Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Scapular win...	OMIM:613507
Truncus Arteriosus	Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ...	ORPHA:3384
Spastic Paraplegia 48, Autosomal Recessive	Spastic gait, Urinary incontinence, Lower limb spasticity, Spastic paraplegia, Ataxia, Parkinsoni...	OMIM:613647
Atrial Septal Defect 6	Atrial fibrillation, Atrial septal defect, Bradycardia	OMIM:613087
Intellectual Developmental Disorder, Autosomal Dominant 56	Bradykinesia, Hypomimic face, Pontocerebellar atrophy, Lower limb spasticity, Oromotor apraxia, S...	OMIM:617854
Flynn-Aird Syndrome	Impaired pain sensation, Cachexia, Cerebral cortical atrophy, Ataxia, Skeletal muscle atrophy	ORPHA:2047
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in upper limbs, Reduced left ventricular ejection fraction, Muscular ede...	ORPHA:268
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased sensory nerve conduction velocity, Ragged-red muscle fibers, Cachexia, Peripheral axona...	ORPHA:298
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Cardiomyopathy, Elevated circulating...	OMIM:615352
Pulmonary Capillary Hemangiomatosis	Elevated pulmonary artery pressure, Pulmonary edema, Pulmonary capillary hemangiomatosis, Hemotho...	ORPHA:199241
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Spastic dysarthria, Oculomotor apraxia, Peripheral axonal neuropathy, Spasticity, Dysdiadochokine...	ORPHA:313772
Congenital Myopathy 10A, Severe Variant	Facial palsy, EMG: myopathic abnormalities, Muscle fiber necrosis, Camptodactyly of finger, Incre...	OMIM:614399
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Babinski sign, Increased variability in muscle fiber diameter, Increased intramyocellular lipid d...	OMIM:619065
Vesicoureteral Reflux 2	Renal hypoplasia, Vesicoureteral reflux	OMIM:610878
Tropical Endomyocardial Fibrosis	Left atrial enlargement, P pulmonale, Abnormal ST segment, Cachexia, Ascites, Prolonged QRS compl...	ORPHA:75565
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Muscle fiber splitting, Difficulty walking, Calf muscle hypertrophy, Rimmed vacuoles, Scapular wi...	OMIM:603689
Spinocerebellar Ataxia Type 1	Optic atrophy, Impaired proprioception, Progressive cerebellar ataxia, Abnormal nerve conduction ...	ORPHA:98755
Amyotrophic Lateral Sclerosis 23	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis	OMIM:617839
Cardiomyopathy, Dilated, 2D	Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov...	OMIM:619371
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Left ventricular systolic dysfunction, Patent foramen ovale, Aspiration pneumonia, Tricuspid regu...	OMIM:619167
Preeclampsia	Pulmonary edema, Elevated diastolic blood pressure, Elevated systolic blood pressure, Hypertensio...	ORPHA:275555
Spinocerebellar Ataxia 28	Limb ataxia, Babinski sign, Ragged-red muscle fibers, Spasticity, Gait ataxia, Lower limb hyperto...	OMIM:610246
Cardiomyopathy, Dilated, 1Nn	Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri...	OMIM:615916
Inclusion Body Myositis	Rimmed vacuoles, Inflammatory myopathy	OMIM:147421
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Facial hypotonia, Left ventricular outflow tract obstruction, Low-output congestive heart failure...	ORPHA:308552
Pontocerebellar Hypoplasia Type 1	Optic atrophy, Cerebral cortical atrophy, Failure to thrive, Ataxia, Skeletal muscle atrophy, Deg...	ORPHA:2254
D-2-Hydroxyglutaric Aciduria 2	D-2-hydroxyglutaric acidemia, Cardiomyopathy	OMIM:613657
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating creatine kinase concentration, Hyperammonemia, Cardiomegaly, Ventricular tac...	OMIM:600649
Mitochondrial Complex I Deficiency, Nuclear Type 21	Babinski sign, Difficulty walking, Ragged-red muscle fibers, Spasticity, Ataxia, Myopathy	OMIM:618242
Classic Glucose Transporter Type 1 Deficiency Syndrome	Hypertonia, Apraxia, Chorea, Spasticity, Hemiparesis, Dystonia, Ataxia, Extrapyramidal dyskinesia...	ORPHA:71277
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Decreased nerve conduction velocity, Peripheral demyelination, Gait ataxia	OMIM:249900
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy	OMIM:208750
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Decreased sensory nerve conduction velocity, Impaired proprioception, Positive Rom...	OMIM:609033
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Cerebral atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105500
Amoebiasis Due To Entamoeba Histolytica	Lung abscess, Congestive heart failure, Pleural empyema, Pleural effusion, Abnormal pericardium m...	ORPHA:67
High Altitude Pulmonary Edema	Tachycardia, Pulmonary edema, Tachypnea	ORPHA:330012
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Congestive heart failure, Patent ductus arteriosus, Patent foramen ovale, Cardiomyopathy, Spinal ...	OMIM:616866
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Skeletal muscle atrophy	OMIM:612069
Mcleod Syndrome	Reduced haptoglobin level, Atrial fibrillation, Cardiomyopathy, Elevated circulating creatine kin...	OMIM:300842
Marinesco-Sjogren Syndrome	Cerebellar cortical atrophy, Rimmed vacuoles, Cerebellar atrophy, Elevated circulating creatine k...	OMIM:248800
Mogs-Cdg	Optic atrophy, Pulmonary edema, Polyhydramnios, Cardiomegaly, Respiratory distress, Absent brains...	ORPHA:79330
Primary Effusion Lymphoma	Pericardial effusion, Pleural effusion	ORPHA:48686
Pseudo-Torch Syndrome 2	Bradycardia, Pleural effusion, Ascites, Secundum atrial septal defect, Cerebral hemorrhage, Paten...	OMIM:617397
Pontocerebellar Hypoplasia, Type 6	Cerebral atrophy, Atrophy/Degeneration affecting the brainstem, Brain atrophy, Cerebellar atrophy...	OMIM:611523
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Hand paresthesia, Distal lower limb muscle weakness, Distal sensory impairment, Impaired pain sen...	OMIM:613640
Autosomal Recessive Spastic Paraplegia Type 11	Generalized limb muscle atrophy, Orthostatic hypotension, Abnormality of extrapyramidal motor fun...	ORPHA:2822
Pontocerebellar Hypoplasia, Type 1A	Limb ataxia, Distal amyotrophy, Spinal muscular atrophy, Congenital contracture, Cerebral cortica...	OMIM:607596
Kearns-Sayre Syndrome	Ragged-red muscle fibers, Third degree atrioventricular block, Skeletal muscle atrophy	ORPHA:480
Focal Segmental Glomerulosclerosis 1	Hypertension, Hyperlipidemia, Pleural effusion, Ascites, Edema, Hypoalbuminemia	OMIM:603278
Cardiomyopathy, Familial Restrictive, 3	Reduced left ventricular ejection fraction, Abnormal ST segment, Myocardial sarcomeric disarray, ...	OMIM:612422
Steinert Myotonic Dystrophy	Left ventricular systolic dysfunction, Polyhydramnios, Abnormality of masticatory muscle, Atrial ...	ORPHA:273
Cardiomyopathy, Familial Hypertrophic, 27	Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper...	OMIM:618052
Shwachman-Diamond Syndrome 1	Failure to thrive, Myocardial necrosis, Small for gestational age, Respiratory distress	OMIM:260400
Ceroid Lipofuscinosis, Neuronal, 10	Cerebral atrophy, Neuronal loss in central nervous system, Cerebellar atrophy, Apnea, Neonatal de...	OMIM:610127
Isaacs Syndrome	Fasciculations, Calf muscle hypertrophy, Distal sensory impairment, Weight loss	ORPHA:84142
Nemaline Myopathy 5C, Autosomal Dominant	Tip-toe gait, Pelvic girdle muscle weakness, Difficulty walking, Scapular winging, Waddling gait,...	OMIM:620389
Idiopathic/Heritable Pulmonary Arterial Hypertension	Abnormal cardiovascular system physiology, Elevated jugular venous pressure, Pulmonary arterial h...	ORPHA:422
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Decreased nerve conduction velocity, Dysdiadochokinesis, Cerebellar atrophy, Failure to thrive, A...	OMIM:618356
Lymphatic Malformation 7	Pulmonary edema, Atrial septal defect, Respiratory distress, Chylothorax, Lymphedema, Pleural eff...	OMIM:617300
Glutamine Deficiency, Congenital	Bradycardia, Brain atrophy, Camptodactyly, Hyperammonemia, Apnea, Flexion contracture, Recurrent ...	OMIM:610015
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Steppage gait, Distal amyotrophy, Upper limb muscle weakness, Limb muscle weakness, Fiber type gr...	OMIM:608340
Spinal muscular atrophy, type I, with congenital bone fractures	Acute infantile spinal muscular atrophy, Respiratory distress, Generalized amyotrophy, Decreased ...	OMIM:271225
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Decreased nerve conduction velocity, Truncal ataxia, Dysdiadochokinesis, Cerebral cortical atroph...	OMIM:238970
Mitochondrial Complex I Deficiency, Nuclear Type 37	Cerebral atrophy, Respiratory distress, Bradycardia, Cerebellar atrophy, Pulmonary arterial hyper...	OMIM:619272
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d...	OMIM:617280
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Generalized amyotrophy, Abnormal EKG, Lower limb hypertonia, Lower limb muscle weakness	ORPHA:1177
Pulmonary Non-Tuberculous Mycobacterial Infection	Pneumothorax, Respiratory distress, Pleural effusion, Pericardial effusion, Weight loss, Bronchie...	ORPHA:411703
Cardiomyopathy, Dilated, 2J	Congestive heart failure, Dilated cardiomyopathy, Secundum atrial septal defect, Severely reduced...	OMIM:620635
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Optic atrophy, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Muscle fiber...	OMIM:258450
Staphylococcal Necrotizing Pneumonia	Pneumothorax, Pulmonary pneumatocele, Elevated circulating C-reactive protein concentration, Resp...	ORPHA:36238
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7	Hypoglycosylation of alpha-dystroglycan, Calf muscle hypertrophy, Scapular winging, Lower limb mu...	OMIM:616052
Sudden Infant Death Syndrome	Apneic episodes in infancy	OMIM:272120
Idiopathic Congenital Hypothyroidism	Facial edema, Macroglossia, Neonatal hyperbilirubinemia, Bradycardia	ORPHA:95717
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Abnormality of skeletal muscle fiber size, Respiratory distress, Chylothorax, Nemaline bodies, Jo...	OMIM:620278
Renal Dysplasia	Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure...	ORPHA:93108
Oculopharyngeal Muscular Dystrophy	Ragged-red muscle fibers, Abnormal muscle fiber morphology, Rimmed vacuoles, Myopathy	ORPHA:270
Isolated Succinate-Coq Reductase Deficiency	Abnormal atrioventricular conduction, Noncompaction cardiomyopathy, Distal amyotrophy, Hypertroph...	ORPHA:3208
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Splenomegaly	OMIM:615285
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Muscle fiber necrosis, Elevated circulating creatine kinase concentration, Increased variability ...	OMIM:620138
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Athetosis, Amyotrophic lateral sclerosis, Dystonia	OMIM:300857
Autosomal Dominant Centronuclear Myopathy	Large for gestational age, Proximal muscle weakness in upper limbs, Polyhydramnios, Calf muscle h...	ORPHA:169189
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Calf muscle hypertrophy, Cardiomyopathy, Elevated circulating creatine kinase concentration, Incr...	ORPHA:119
Peroxisome Biogenesis Disorder 8B	Cerebellar atrophy, Gait ataxia, Corpus callosum atrophy, Rigidity, Ataxia, Optic atrophy, Babins...	OMIM:614877
Atrial Fibrillation, Familial, 14	Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval	OMIM:615378
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Dilated cardiomyopathy, Failure to thrive in infancy, Reduced systolic function	OMIM:618805
Congenital Myopathy 15	Vocal cord paralysis, Waddling gait, Camptodactyly, Increased variability in muscle fiber diamete...	OMIM:620161
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Optic atrophy, Distal sensory impairment, Positive Romberg sign, Distal amyotrophy, Limb muscle w...	OMIM:601152
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Type 2 muscle fiber predominance, Tremor, Ataxia, Myoclonus, Impaired tand...	OMIM:619028
Neurodegeneration With Brain Iron Accumulation 6	Bradykinesia, Distal amyotrophy, Motor axonal neuropathy, Rigidity, Spastic tetraplegia, Spastic ...	OMIM:615643
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Distal sensory impairment, Peripheral axonal neuropathy, Distal amyotrophy, Atrophy of the spinal...	OMIM:256840
Proximal Spinal Muscular Atrophy	Distal lower limb muscle weakness, Weakness of facial musculature, Bradycardia, Facial diplegia, ...	ORPHA:70
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cachexia, Exercise-induced myalgia, Fatigue, Ataxia, Distal arthrogryposis, Skeletal muscle atrop...	ORPHA:42
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Reduced left ventricular ejection fraction, Tricuspid regurgitation, Hypert...	OMIM:616501
Severe X-Linked Mitochondrial Encephalomyopathy	Increased variability in muscle fiber diameter, Increased serum pyruvate, Skeletal muscle atrophy...	ORPHA:238329
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Bradycardia, Elevated circulating creatine kinase concentration, Hy...	OMIM:618775
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Global systolic dysfunction, Cardiomyopathy, Nemaline bodies, Limb muscle weakness	OMIM:606842
Myopathy, Myofibrillar, 4	Muscle fiber splitting, Cardiomyopathy, Autophagic vacuoles, EMG: myopathic abnormalities, Myofib...	OMIM:609452
Bethlem Myopathy 2	Scapular winging, Elevated circulating creatine kinase concentration, Increased variability in mu...	OMIM:616471
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Muscular dystrophy, Apnea	OMIM:613869
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Failure to thrive, Weight loss, Gait ataxia	OMIM:612075
Isolated Right Ventricular Hypoplasia	Abnormal atrioventricular conduction, Congestive heart failure, Bidirectional shunt, Muscular ven...	ORPHA:439
Cardiomyopathy, Familial Restrictive, 1	Left atrial enlargement, Restrictive cardiomyopathy, Sudden cardiac death, Left ventricular hyper...	OMIM:115210
Poliomyelitis	Exercise intolerance, Hyperkinetic movements, Impairment of activities of daily living, Fascicula...	ORPHA:2912
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Myositis, Rimmed vacuoles, Elevated circulating creatine kinase concentration, Centrally nucleate...	OMIM:615422
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus	Cerebral atrophy, Decreased sensory nerve conduction velocity, Atrophy/Degeneration affecting the...	OMIM:616192
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10	Elevated circulating creatine kinase concentration, Increased variability in muscle fiber diamete...	OMIM:620542
Nephronophthisis 2	Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst...	OMIM:602088
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Babinski sign, Impaired proprioception, Distal lower limb amyotrophy, Distal lower limb muscle we...	OMIM:500013
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Elevated circulating creatine kinase concentration, Increased variability in muscle fiber diamete...	OMIM:300717
Atrial Standstill 2	Bradycardia, Cardiomyopathy, Atrial arrhythmia, Hyperpepsinogenemia I, Dilatation of the ventricu...	OMIM:615745
Developmental And Epileptic Encephalopathy 61	Optic atrophy, Apnea, Cerebral atrophy	OMIM:617933
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Decreased nerve conduction velocity, Truncal obesity	ORPHA:2928
Aa Amyloidosis	Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hepatomegaly, Nephrotic syndrome...	ORPHA:85445
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula...	OMIM:618920
Malignant Atrophic Papulosis	Ischemic stroke, Gastrointestinal hemorrhage, Arteritis, Pleural effusion, Abnormal pericardium m...	ORPHA:679
Neurodegeneration With Brain Iron Accumulation 2A	Optic atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Neuronal loss in central ne...	OMIM:256600
Dilated Cardiomyopathy With Ataxia	Optic atrophy, Muscular ventricular septal defect, Prolonged QT interval, Atrophy/Degeneration af...	ORPHA:66634
Capillary Malformation-Arteriovenous Malformation	Congestive heart failure, Abnormality of the musculature of the limbs, Chylothorax, Neurogenic bl...	ORPHA:137667
Folinic Acid-Responsive Seizures	Optic atrophy, Frontotemporal cerebral atrophy, Respiratory distress, Chorea, Cerebellar atrophy,...	ORPHA:79097
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Rimmed vacuoles, Elevated circulating creatine kinase concentration, Failure to thrive, Centrally...	OMIM:619518
Spinal Muscular Atrophy, Infantile, James Type	Distal amyotrophy, Increased variability in muscle fiber diameter, Hip contracture, Type 1 muscle...	OMIM:619042
Mitochondrial Complex I Deficiency, Nuclear Type 5	Optic atrophy, Brain atrophy, Cerebellar atrophy, Failure to thrive, Apnea, Dystonia, Ataxia	OMIM:618226
Cardiomyopathy, Familial Hypertrophic, 15	Congestive heart failure, Endocardial fibrosis, Hyperdynamic left ventricular ejection fraction, ...	OMIM:613255
Noonan Syndrome 10	Patent ductus arteriosus, Pleural effusion, Hypertrophic cardiomyopathy, Increased nuchal translu...	OMIM:616564
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Left ventricular systolic dysfunction, Polyhydramnios, Ventricular bigeminy, Patent foramen ovale...	OMIM:620519
Myofibrillar Myopathy 10	Ankle flexion contracture, Prolonged QTc interval, Elbow flexion contracture, EMG: myopathic abno...	OMIM:619040
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Polyhydramnios, Patent foramen ovale, Spinal muscular atrophy, Increased variability in muscle fi...	OMIM:616867
Oculopharyngodistal Myopathy 4	Rimmed vacuoles, Autophagic vacuoles, EMG: myopathic abnormalities, Tremor, Increased variability...	OMIM:619790
Immune-Mediated Necrotizing Myopathy	Myocarditis, Congestive heart failure, Abnormal pulmonary interstitial morphology, Myositis, Scap...	ORPHA:206569
Hjv Or Hamp-Related Hemochromatosis	Elevated transferrin saturation, Dilated cardiomyopathy, Increased circulating ferritin concentra...	ORPHA:79230
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Apnea, Neonatal death	OMIM:615228
Necrotizing Enterocolitis	Bradycardia, Hypotension, Ascites, Hyponatremia, Abnormal heart morphology, Apnea, Edema, Small f...	ORPHA:391673
Neonatal Lupus Erythematosus	Heart block, Prolonged QT interval, Abnormal heart morphology, Arrhythmia, Atrioventricular block...	ORPHA:398124
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Type 1 muscle fiber predominance, Shoulder flexion contracture, Tremor, Nemaline bodies, Hip cont...	OMIM:605355
Hypocomplementemic Urticarial Vasculitis	Small vessel vasculitis, Emphysema, Abnormal heart valve morphology, Pleural effusion, Ascites, A...	ORPHA:36412
Lethal Congenital Contracture Syndrome 7	Facial diplegia, Distal arthrogryposis, Skeletal muscle atrophy, Knee flexion contracture, Paralysis	OMIM:616286
Combined Oxidative Phosphorylation Deficiency 6	Ragged-red muscle fibers, Tongue fasciculations, Tetraplegia, Involuntary movements, Skeletal mus...	OMIM:300816
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Decreased nerve conduction velocity, EMG: myopathic abnormalities, Increased variability in muscl...	ORPHA:397744
Short Chain Acyl-Coa Dehydrogenase Deficiency	Optic atrophy, Respiratory distress, Cardiomyopathy, Failure to thrive, Elevated circulating acyl...	ORPHA:26792
Atrial Septal Defect, Ostium Secundum Type	Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric...	ORPHA:99103
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Dilated cardiomyopathy	OMIM:619688
Autosomal Dominant Progressive External Ophthalmoplegia	Hypomimic face, Reduced left ventricular ejection fraction, Ragged-red muscle fibers, Atrial fibr...	ORPHA:254892
Adrenomyeloneuropathy	Spastic gait, Babinski sign, Distal lower limb muscle weakness, Urinary incontinence, Distal sens...	ORPHA:139399
Autosomal Recessive Progressive External Ophthalmoplegia	Optic atrophy, Cerebral atrophy, Ragged-red muscle fibers, Facial palsy, Scapular winging, Cardio...	ORPHA:254886
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Acute rhabdomyolysis, Peripheral hypomyelination, Flexion contracture of toe, Chorea, Finger join...	ORPHA:48431
Amyotrophic Lateral Sclerosis 19	Amyotrophic lateral sclerosis	OMIM:615515
Spinal Muscular Atrophy, Segmental	Segmental spinal muscular atrophy, Hand muscle atrophy, Abnormal anterior horn cell morphology	OMIM:183020
Sarcoidosis, Susceptibility To, 2	Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Facial palsy, Pleural effusi...	OMIM:612387
Benign Samaritan Congenital Myopathy	Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers	ORPHA:324581
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Congestive heart failure, Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Hypertension,...	OMIM:540000
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:616208
Spinocerebellar Ataxia Type 40	Pontocerebellar atrophy, Dysdiadochokinesis, Intention tremor, Gait ataxia, Spastic paraparesis, ...	ORPHA:423275
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9	Muscular dystrophy, Ankle flexion contracture, Difficulty walking, Hypoglycosylation of alpha-dys...	OMIM:613818
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Ragged-red muscle fibers, Frequent falls, Rhabdomyolysis, Dystonia, Ataxia, Weakness of facial mu...	OMIM:618416
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Developmental And Epileptic Encephalopathy 101	Apnea, Limb joint contracture, Third degree atrioventricular block, Bradycardia	OMIM:619814
Diencephalic Syndrome	Optic atrophy, Cachexia, Decreased body weight	ORPHA:1672
Spinocerebellar Ataxia Type 3	Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Clumsiness, Vocal co...	ORPHA:98757
Indifference To Pain, Congenital, Autosomal Recessive	Impaired proprioception, Abnormal nerve conduction velocity, Impaired temperature sensation, Impa...	OMIM:243000
Rett Syndrome	Truncal ataxia, Cachexia, Spasticity, Gait apraxia, Gait ataxia, Cerebral cortical atrophy, Skele...	OMIM:312750
2Q24 Microdeletion Syndrome	Small for gestational age, Camptodactyly of finger, Failure to thrive, Central apnea	ORPHA:1617
Aminoacylase 1 Deficiency	Cerebral atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Bradycardia	OMIM:609924
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Babinski sign, Distal lower limb muscle weakness, Inability to walk by childhood/adolescence, Ste...	ORPHA:99947
Cardiac Diverticulum	Premature ventricular contraction, Aortic valve stenosis, Abnormal heart morphology, Mitral valve...	ORPHA:1686
Cardiac Lipidosis, Familial	Congestive heart failure, Cardiomyopathy	OMIM:212080
Pontocerebellar Hypoplasia, Type 16	Optic atrophy, Limb hypertonia, Cerebral cortical atrophy, Apnea, Skeletal muscle atrophy	OMIM:619527
Leukoencephalopathy With Dystonia And Motor Neuropathy	Impaired vibratory sensation, Decreased motor nerve conduction velocity, Torticollis	OMIM:613724
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Optic atrophy, Respiratory distress, Hypertrophic cardiomyopathy, Tachypnea, Hyperglycinemia, Dil...	OMIM:614299
Leukodystrophy, Hypomyelinating, 24	Cerebral atrophy, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Flexio...	OMIM:619851
Spinocerebellar Ataxia 10	Limb ataxia, Decreased nerve conduction velocity, Progressive cerebellar ataxia, Distal sensory i...	OMIM:603516
Butyrylcholinesterase Deficiency	Apnea	OMIM:617936
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Atrioventricular block, Failure to thrive, Bradycardia, Joint contracture of the 5th finger	OMIM:614407
Congenital Myopathy 6 With Ophthalmoplegia	Muscle fiber inclusion bodies, Scapular winging, Waddling gait, Congenital contracture, Increased...	OMIM:605637
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Atelectasis, Recurrent lower respiratory tract infect...	OMIM:620233
Pontocerebellar Hypoplasia Type 4	Arthrogryposis multiplex congenita, Central apnea	ORPHA:166063
Tularemia	Pneumonia, Respiratory distress, Pleural effusion, Tachycardia	ORPHA:3392
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Abnormal seventh cranial physiology, Distal sensory impairment, Upper limb muscle weakness, Abnor...	ORPHA:90117
Vitamin B12-Unresponsive Methylmalonic Acidemia	Optic atrophy, Paraparesis, Ataxia, Choreoathetosis, Tetraparesis	ORPHA:27
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Ragged-red muscle fibers, Hypertrophic cardiomyopathy, Generalized amyotrop...	OMIM:613561
Hypokalemic Periodic Paralysis	Respiratory paralysis, Periodic hypokalemic paresis, Increased intramyocellular lipid droplets, P...	ORPHA:681
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Cerebral atrophy, Ankle flexion contracture, Knee flexion contracture, Elbow flexion contracture,...	OMIM:619461
Pelizaeus-Merzbacher Disease	Optic atrophy, Cachexia, Spasticity, Bowel incontinence, Cerebral cortical atrophy, Ataxia, Failu...	ORPHA:702
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ...	OMIM:611528
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Abnormal atrioventricular conduction, Cardiomyopathy, Abnormality of the spinocerebellar tracts, ...	ORPHA:329336
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Dilated cardiomyopathy,...	ORPHA:70595
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Muscular dystrophy, Calf muscle hypertrophy, Facial palsy, Cardiomyopathy, Elevated circulating c...	OMIM:613155
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Cerebral atrophy, Gliosis, Cerebral edema, Left ventricular hypertrophy, Tachycardia, Dilated car...	OMIM:618321
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Global brain atrophy, Central apnea	OMIM:611722
Hypotonia, Infantile, With Psychomotor Retardation	Increased variability in muscle fiber diameter, Ventricular septal defect, Myopathy	OMIM:616816
Long Qt Syndrome 13	Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn...	OMIM:613485
Autosomal Recessive Spastic Paraplegia Type 55	Optic atrophy, Babinski sign, Decreased sensory nerve conduction velocity, Distal sensory impairm...	ORPHA:320375
Systemic-Onset Juvenile Idiopathic Arthritis	Joint swelling, Pericarditis, Pleural effusion, Elevated circulating C-reactive protein concentra...	ORPHA:85414
X-Linked Adrenoleukodystrophy	Paralysis, Incoordination, Paraparesis, Leg muscle stiffness, Hemiparesis, Progressive spastic pa...	ORPHA:43
Adult Acute Respiratory Distress Syndrome	Pulmonary edema, Vasculitis, Hypotension, Pneumonia, Shock	ORPHA:70578
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy	ORPHA:2229
Charcot-Marie-Tooth Disease Type 1E	Distal lower limb muscle weakness, Decreased nerve conduction velocity, Distal sensory impairment...	ORPHA:90658
Combined Oxidative Phosphorylation Deficiency 28	Ragged-red muscle fibers, Congestive heart failure, Polyhydramnios, Increased serum pyruvate	OMIM:616794
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Multifocal Motor Neuropathy	Weakness of long finger extensor muscles, Motor conduction block, Limb muscle weakness	ORPHA:641
Polyarteritis Nodosa	Elevated circulating C-reactive protein concentration, Pleuritis, Hypertension, Cardiomyopathy, A...	ORPHA:767
Idiopathic Hypereosinophilic Syndrome	Congestive heart failure, Respiratory distress, Myocardial eosinophilic infiltration, Supraventri...	ORPHA:3260
Pediatric Systemic Lupus Erythematosus	Myositis, Pleural effusion, Ascites, Pericardial effusion, Raynaud phenomenon, Edema	ORPHA:93552
Neuronal Intranuclear Inclusion Disease	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Ataxia, S...	OMIM:603472
Myasthenic Syndrome, Congenital, 12	Ragged-red muscle fibers, Proximal amyotrophy, Facial palsy, Waddling gait	OMIM:610542
Spastic Paraplegia 20, Autosomal Recessive	Spastic gait, Babinski sign, Impaired vibration sensation at ankles, Lower limb spasticity, Dista...	OMIM:275900
Cardiomyopathy, Familial Hypertrophic, 16	Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril...	OMIM:613838
Myopathy, Tubular Aggregate, 1	Elevated circulating creatine kinase concentration, Weakness of the intrinsic hand muscles, Incre...	OMIM:160565
Pulmonary Edema Of Mountaineers, Susceptibility To	Edema, Pulmonary edema, Elevated pulmonary artery pressure	OMIM:178400
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Cerebral atrophy, Hypertonia, Global brain atrophy, Facial hypotonia, Cachexia, Spasticity, Hip c...	OMIM:616801
Muscular Dystrophy, Congenital, Lmna-Related	Proximal upper limb amyotrophy, Muscular dystrophy, Paroxysmal atrial fibrillation, Upper limb mu...	OMIM:613205
Aapoaiv Amyloidosis	Atrial flutter, Left bundle branch block, Abnormal cardiac ventricular function, Left ventricular...	ORPHA:439232
Ogden Syndrome	Left atrial enlargement, Premature ventricular contraction, Cardiomegaly, Bicuspid aortic valve, ...	OMIM:300855
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy, Failure t...	ORPHA:91130
Oculopharyngodistal Myopathy	Abnormality of orbicularis oris muscle, Proximal muscle weakness in upper limbs, Distal lower lim...	ORPHA:98897
Classic Multiminicore Myopathy	Muscular dystrophy, Congestive heart failure, Generalized amyotrophy, Muscle fiber atrophy, Right...	ORPHA:324604
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v...	OMIM:604400
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 11	Distal lower limb muscle weakness, Decreased compound muscle action potential amplitude, Claw han...	OMIM:620528
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating creatinine concentration, Antenatal intracerebral hemorrhage, Elbow flexion ...	OMIM:608836
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Muscle fiber splitting, Facial palsy, Limb muscle weakness, Increased variability in muscle fiber...	OMIM:616313
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ...	OMIM:613251
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Reduced left ventricular ejection fraction, Decreased circulating carnitine concentration, Elevat...	OMIM:201475
Immunodeficiency 91 And Hyperinflammation	Abnormal pulmonary interstitial morphology, Recurrent lower respiratory tract infections, Elevate...	OMIM:619644
Q Fever	Myocarditis, Abnormal pulmonary interstitial morphology, Abnormal left ventricular function, Resp...	ORPHA:781
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Ischemic stroke, Azoospermia, Hypertension, Cerebral hemorrhage, Dilated cardiomyopathy	ORPHA:280679
Carnitine Deficiency, Systemic Primary	Congestive heart failure, Respiratory distress, Decreased circulating carnitine concentration, Re...	OMIM:212140
Congenital Disorder Of Glycosylation, Type Ik	Cerebral atrophy, Cardiomyopathy, Joint contracture, Nonimmune hydrops fetalis, Flexion contracture	OMIM:608540
Neuropathy, Congenital Hypomyelinating, 3	Hypomimic face, Babinski sign, Cachexia, Spasticity, Facial diplegia, Cerebellar atrophy, Limb jo...	OMIM:618186
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Congestive heart failure, Failure to thrive, Cardiomyocyte hypertrophy, Edema, Ventricular tachyc...	OMIM:605676
Andersen-Tawil Syndrome	Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Prominent U wave,...	ORPHA:37553
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Tric...	ORPHA:555874
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Pulmonary edema, Congestive heart failure, Hypocalcemia, Pericardial effusion, Hypomagnesemia, Hy...	ORPHA:73224
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
Left Ventricular Noncompaction 7	Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction	OMIM:615092
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Ragged-red muscle fibers, Hyperalaninemia, EMG: myopathic abnormalities, Hypertrophic cardiomyopa...	OMIM:615418
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Diffuse cerebral atrophy, Bradycardia	ORPHA:2898
Arterial Calcification, Generalized, Of Infancy, 2	Congestive heart failure, Hypophosphatemic rickets, Reduced left ventricular ejection fraction, S...	OMIM:614473
Pericardial And Diaphragmatic Defect	Congenital diaphragmatic hernia, Pulmonary sequestration, Aplasia of the left hemidiaphragm, Abno...	ORPHA:2847
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Muscular dystrophy, Torticollis, Increased variability in muscle fiber diameter, Skeletal muscle ...	OMIM:613204
Mitochondrial Complex I Deficiency, Nuclear Type 10	Optic atrophy, Apnea, Ataxia, Dysmetria, Central hypoventilation	OMIM:618233
Congenital Myasthenic Syndromes With Glycosylation Defect	Difficulty walking, Ragged-red muscle fibers, Scapular winging, Facial palsy, Muscle fiber tubula...	ORPHA:353327
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Optic atrophy, Muscular dystrophy, Atrial septal defect, Transposition of the great arteries, Cal...	OMIM:253800
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Hypotension, Tricuspid regurgitation, Elevated cir...	OMIM:620300
Combined Oxidative Phosphorylation Deficiency 57	Cerebral atrophy, Apnea, Dystonia, Neonatal death, Small for gestational age, Central hypoventila...	OMIM:620167
Glycogen Storage Disease Iii	Distal amyotrophy, Ventricular hypertrophy, Hyperlipidemia, Cardiomyopathy, Elevated circulating ...	OMIM:232400
Lipoyltransferase 1 Deficiency	Bradycardia, Cerebellar atrophy, Pulmonary arterial hypertension, Increased total bilirubin, Hype...	OMIM:616299
Chromosome 1P36 Deletion Syndrome, Proximal	Atrial septal defect, Wolff-Parkinson-White syndrome, Patent ductus arteriosus, Coronary artery f...	OMIM:619343
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Atrial septal defect, Atrioventricular canal defect, Hypokalemia, Elevated ...	OMIM:619573
Respiratory Distress Syndrome In Premature Infants	Pulmonary edema, Atelectasis, Respiratory distress, Edema, Tachypnea	OMIM:267450
Leukodystrophy, Hypomyelinating, 4	Apnea, Head titubation, Choreoathetosis, Flexion contracture	OMIM:612233
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Cardiomyopathy, Finger joint contracture, Telangiectasia of the skin, Dilated cardiomyopathy, Mit...	OMIM:212112
Congenital-Onset Steinert Myotonic Dystrophy	Polyhydramnios, Facial hypotonia, Decreased body weight, Obesity, Bundle branch block, Patent duc...	ORPHA:589821
Leukodystrophy, Hypomyelinating, 2	Optic atrophy, Babinski sign, Cerebral atrophy, Sensory axonal neuropathy, Progressive spasticity...	OMIM:608804
Ataxia, Sensory, 1, Autosomal Dominant	Impaired distal proprioception, Positive Romberg sign, Dysesthesia, Impaired distal vibration sen...	OMIM:608984
Severe Neonatal-Onset Encephalopathy With Microcephaly	Cerebral atrophy, Apnea	ORPHA:209370
Congenital Disorder Of Glycosylation, Type It	Tachycardia, Elevated circulating creatine kinase concentration, Pulmonary arterial hypertension,...	OMIM:614921
Seizures, Benign Familial Infantile, 3	Apnea	OMIM:607745
Scedosporiosis	Pleuritis, Bronchitis, Pleural empyema, Pericarditis, Pulmonary fibrosis, Pneumonia, Endocarditis	ORPHA:449280
Mitochondrial Dna-Associated Leigh Syndrome	Optic atrophy, Ragged-red muscle fibers, Hyperalaninemia, Hypertrophic cardiomyopathy, Failure to...	ORPHA:255210
Mitochondrial Complex I Deficiency, Nuclear Type 4	Brain atrophy, Apnea, Ataxia	OMIM:618225
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Hypoglycosylation of alph...	ORPHA:352479
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Congestive heart failure, Abnormality of skeletal muscle fiber size, Hyperu...	ORPHA:79083
Leptospirosis	Hyperproteinemia, Respiratory distress, Pleural effusion, Hypotension, Retinal hemorrhage, Perica...	ORPHA:509
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Babinski sign, Difficulty walking, Broad-based gait, Ragged-red muscle fibers, Gait disturbance, ...	OMIM:616479
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations	Failure to thrive, Apnea, Central hypoventilation	OMIM:300673
Japanese Encephalitis	Pulmonary edema, Distal lower limb muscle weakness, Hyperintensity of MRI T2 signal of the spinal...	ORPHA:79139
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:607487
8p23.1 deletion syndrome	Congenital diaphragmatic hernia, Atrial septal defect, Atrioventricular canal defect, Abnormal he...	DECIPHER:39
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia	OMIM:611938
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Optic atrophy, Apnea, Opisthotonus, Skeletal muscle atrophy	OMIM:616896
Pulmonary Arteriovenous Malformation	Ischemic stroke, Myocardial infarction, Bacterial endocarditis, Pleural empyema, Transient ischem...	ORPHA:2038
Idiopathic Camptocormia	Cerebral atrophy, Syringomyelia, Fatty replacement of skeletal muscle, Myelitis, Myositis, EMG: m...	ORPHA:1320
Frontotemporal Dementia	Neuronal loss in central nervous system, Amyotrophic lateral sclerosis	OMIM:600274
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Nonimmune hydrops fetalis, Dysplastic tricuspid valve, Bicuspid aortic valve, Alveolar capillary ...	OMIM:265380
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Triceps weakness, Intrinsic hand muscle atrophy, Centrally nucleated skeletal muscle fibers, Foot...	OMIM:619574
Hemorrhagic Fever-Renal Syndrome	Hematemesis, Pulmonary edema, Hyperkalemia, Melena, Tachycardia, Capillary leak, Respiratory dist...	ORPHA:340
Seizures, Benign Familial Infantile, 1	Apnea	OMIM:601764
Ullrich Congenital Muscular Dystrophy	Torticollis, Elbow flexion contracture, EMG: myopathic abnormalities, Frequent falls, Increased v...	ORPHA:75840
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypokalemia, Reduced left ventricular ejection fraction, Elevated left ventricular end-diastolic ...	OMIM:620152
Malonyl-Coa Decarboxylase Deficiency	Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy	OMIM:248360
Auriculocondylar Syndrome 4	Apnea	OMIM:620457
Cardiomyopathy, Familial Hypertrophic, 21	Atrial fibrillation, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Mitral valve prol...	OMIM:614676
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Ragged-red muscle fibers, Scapular winging, Skeletal muscle atrophy, Weakness of facial musculature	OMIM:617069
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Pulmonary edema, Aortic valve atresia, Gliosis, Hypertension, Hypertrophic cardiomyopathy, Hypera...	OMIM:220111
Myasthenic Syndrome, Congenital, 25, Presynaptic	Flexion contracture, Generalized amyotrophy, Decreased compound muscle action potential amplitude...	OMIM:618323
Juvenile Huntington Disease	Bradykinesia, Progressive cerebellar ataxia, Chorea, Cerebellar vermis atrophy, Cerebellar atroph...	ORPHA:248111
Infantile Krabbe Disease	Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc...	ORPHA:206436
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia, Congestive heart failure, Abnormality of skeletal muscle fiber size, Skelet...	ORPHA:2348
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ...	OMIM:613243
Atrial Septal Defect, Coronary Sinus Type	Presyncope, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Syncope, Transi...	ORPHA:99104
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Congestive heart failure, Hypoproteinemia, Cardiomyopathy, Elevated circulating creatine kinase c...	OMIM:615895
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Syncope, Ventricular tachycardia, Dilated cardiomyopathy	OMIM:615821
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities	OMIM:609283
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Decreased circulating carnitine concentration, Abnormal circulating acylca...	ORPHA:71212
Pyruvate Dehydrogenase E1-Alpha Deficiency	Cerebral atrophy, Tremor, Episodic ataxia, Apneic episodes precipitated by illness, fatigue, stre...	OMIM:312170
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Facial hypotonia, Resting tremor, Tremor, Wrist flexion contracture, Obesity, Dystonia, Ataxia, A...	OMIM:300055
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Renovascular hypertension, Bicuspid aortic valve, Dilated cardiomyopathy, O...	ORPHA:401923
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Muscular dystrophy, Difficulty walking, Chorea, Truncal ataxia, Waddling gait, Muscle fiber atrop...	ORPHA:369840
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	First degree atrioventricular block, Right ventricular dilatation, Ventricular tachycardia, Left ...	OMIM:615616
Amish Nemaline Myopathy	Shoulder flexion contracture, Tremor, EMG: myopathic abnormalities, Hip contracture, Proximal amy...	ORPHA:98902
Familial Thyroid Dyshormonogenesis	Bradycardia, Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Facia...	ORPHA:95716
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia	ORPHA:40366
Spastic Paraparesis And Deafness	Spastic paraparesis, Tremor	OMIM:312910
Ullrich Congenital Muscular Dystrophy 1A	Muscular dystrophy, Nocturnal hypoventilation, Reduced muscle collagen VI, Torticollis, Facial pa...	OMIM:254090
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Painless fractures due to injury, Decreased sensory nerve conduction velocity, Decreased nerve co...	OMIM:201300
Congenital Myopathy 10B, Mild Variant	Increased endomysial connective tissue, Generalized limb muscle atrophy, Type 1 and type 2 muscle...	OMIM:620249
Lethal Congenital Contracture Syndrome 8	Distal amyotrophy, Facial diplegia, Vocal cord paralysis, Distal arthrogryposis, Flexion contracture	OMIM:616287
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Limb ataxia, Impaired proprioception, Pontocerebellar atrophy, Chronic axonal neuropathy, Chorea,...	OMIM:606002
Primary Intestinal Lymphangiectasia	Hypocalcemia, Hypoproteinemia, Pleural effusion, Ascites, Generalized edema, Pericardial effusion...	ORPHA:90362
Spinal Arachnoiditis	Spastic paraparesis	OMIM:182950
Myotubular Myopathy With Abnormal Genital Development	Polyhydramnios, Atelectasis, Respiratory distress, Centrally nucleated skeletal muscle fibers, My...	OMIM:300219
Melas	Optic atrophy, Wolff-Parkinson-White syndrome, Concentric hypertrophic cardiomyopathy, Ragged-red...	ORPHA:550
Acute Transverse Myelitis	Babinski sign, Impaired proprioception, Distal lower limb muscle weakness, Urinary incontinence, ...	ORPHA:139417
Duchenne Muscular Dystrophy	Calf muscle hypertrophy, Cardiomyopathy, Elevated circulating creatine kinase concentration, Flex...	ORPHA:98896
Cardiomyopathy, Familial Hypertrophic, 11	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc...	OMIM:612098
Ullrich Congenital Muscular Dystrophy 2	Muscular dystrophy, Nocturnal hypoventilation, Facial palsy, Increased variability in muscle fibe...	OMIM:616470
Pulmonary Blastoma	Chest pain, Weight loss	ORPHA:64741
3-Methylglutaconic Aciduria Type 3	Spastic paraparesis, Choreoathetosis, Ataxia	ORPHA:67047
Phosphoserine Aminotransferase Deficiency	Apnea	OMIM:610992
Congenital Multicore Myopathy With External Ophthalmoplegia	Internally nucleated skeletal muscle fibers, Muscular dystrophy, Pneumonia, Polyhydramnios, Tibia...	ORPHA:98905
Illum Syndrome	Apnea, Calcinosis, Arthrogryposis multiplex congenita, Bradycardia	OMIM:208155
Friedreich Ataxia	Optic atrophy, Limb ataxia, Decreased sensory nerve conduction velocity, Impaired proprioception,...	OMIM:229300
Takayasu Arteritis	Abnormal endocardium morphology, Abnormal aortic valve morphology, Vasculitis, Abnormal heart val...	ORPHA:3287
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Limb ataxia, Decreased distal sensory nerve action potential, Impaired pain sensation, Positive R...	OMIM:614575
Mitochondrial Complex I Deficiency, Nuclear Type 20	Congestive heart failure, Dilated cardiomyopathy, Cerebral edema, Hypertrophic cardiomyopathy	OMIM:611126
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Syringomyelia, Atrioventricular canal defect, Pleural effusion, Abnormal autonomic nervous system...	ORPHA:453499
Myasthenic Syndrome, Congenital, 20, Presynaptic	Hypoventilation, Facial palsy, Apnea, Skeletal muscle atrophy, Arthrogryposis multiplex congenita	OMIM:617143
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Spina bifida occulta, Pleural lymphangiectasia, Lymphedema, Pleural...	OMIM:235510
Cardiomyopathy, Dilated, 1Y	Congestive heart failure, Atrial fibrillation, Ebstein anomaly of the tricuspid valve, Left ventr...	OMIM:611878
Meckel Syndrome, Type 8	Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys	OMIM:613885
Gm1-Gangliosidosis, Type I	Congestive heart failure, Hydrops fetalis, Abnormal heart valve morphology, Hypertrophic cardiomy...	OMIM:230500
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Erdheim-Chester Disease	Congestive heart failure, Abnormal pulmonary interstitial morphology, Abnormal aortic valve morph...	ORPHA:35687
Huntington Disease-Like 2	Bradykinesia, Chorea, Action tremor, Cerebral cortical atrophy, Rigidity, Weight loss	OMIM:606438
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Brain atrophy, Apnea	OMIM:617290
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Macroglossia, Large for gestational age, Bradycardia	ORPHA:226313
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:613435
Kearns-Sayre Syndrome	Ragged-red muscle fibers, Arrhythmia, Cardiomyopathy, Third degree atrioventricular block	OMIM:530000
Central Core Disease	Type 1 muscle fiber predominance, Pelvic girdle muscle weakness, Abnormal circulating creatine ki...	ORPHA:597
Leukodystrophy, Hypomyelinating, 5	Delayed brainstem auditory evoked response conduction time, Lower limb amyotrophy, Decreased moto...	OMIM:610532
Alexander Disease Type Ii	Babinski sign, Spasticity, Abnormal autonomic nervous system physiology, Limb muscle weakness, Ri...	ORPHA:363722
Congenital Disorder Of Glycosylation, Type Im	Failure to thrive, Dilated cardiomyopathy, Increased circulating free fatty acid level, Bradycardia	OMIM:610768
Tetanus	Bradycardia, Respiratory distress, Hypertension, Abnormal autonomic nervous system physiology, El...	ORPHA:3299
Linear Skin Defects With Multiple Congenital Anomalies 2	Congenital diaphragmatic hernia, Ventricular hypertrophy, Pulmonary arterial hypertension, Tetral...	OMIM:300887
Late-Infantile/Juvenile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ...	ORPHA:206443
Adult Krabbe Disease	Hoffmann sign, Babinski sign, Delayed brainstem auditory evoked response conduction time, Acropar...	ORPHA:206448
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Atrioventricular canal defect, Ventricular septal defect, Patent ...	ORPHA:392
Lymphatic Malformation 8	Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune hydrops fetalis	OMIM:618773
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Babinski sign, Ankle clonus, Progressive spasticity, Upper motor neuron dysfunction, Progressive ...	ORPHA:506353
Leukodystrophy, Hypomyelinating, 3	Global brain atrophy, Appendicular spasticity, Lower limb amyotrophy, Corpus callosum atrophy, Fa...	OMIM:260600
Aortic Arch Interruption	Blood pressure substantially higher in arms than legs, Aortopulmonary window, Hypertension, Abnor...	ORPHA:2299
Propionic Acidemia	Cerebral atrophy, Cerebellar hemorrhage, Limb hypertonia, Cardiomyopathy, Dehydration, Hyperammon...	OMIM:606054
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypertension, Ascites, Pulmonary arterial hypertension, Nonimmune hydrops fetalis, Hypoalbuminemi...	OMIM:617021
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebral atrophy, Cerebellar atrophy, Aspiration pneumonia, Optic disc pallor, Abnormal heart mor...	ORPHA:79264
Cardiomyopathy, Familial Hypertrophic, 20	Atrial fibrillation, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613876
Benign Familial Neonatal-Infantile Seizures	Apnea, Episodic ataxia	ORPHA:140927
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Lower limb amyotrophy, Cerebellar atrophy, Upper limb muscle weakness, Congenital finger flexion ...	ORPHA:466768
3-Hydroxy-3-Methylglutaric Aciduria	Hyperuricemia, Cardiac arrest, Dehydration, Hypotension, Tachypnea, Hyperammonemia, Apnea, Weight...	ORPHA:20
Combined Oxidative Phosphorylation Defect Type 7	Optic atrophy, Distal sensory impairment, Peripheral axonal neuropathy, Distal amyotrophy, Facial...	ORPHA:254930
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypertriglyceridemia, Restrictive cardiomyopathy, Right atrial enlargement, Pericardial effusion,...	OMIM:619313
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Muscular dystrophy, Central core regions in muscle fibers	OMIM:159050
Mulibrey Nanism	Cachexia	ORPHA:2576
Pontocerebellar Hypoplasia Type 2	Paroxysmal dystonia, Lower limb hypertonia, Apnea, Viral infection-induced rhabdomyolysis, Choreo...	ORPHA:2524
Alpha-Thalassemia	Congestive heart failure, Hydrops fetalis, Pleural effusion, Generalized edema, Pericardial effusion	ORPHA:846
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal left ventricle morphology, Abnormal ST segment, Apnea, Arrhyth...	ORPHA:1055
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged kidney, Enlarged polycystic ovaries	ORPHA:90301
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse, Hypotaurinemia	OMIM:145350
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Cerebral atrophy, Frontal upsweep of hair, Apnea, Cerebellar atrophy	OMIM:619797
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul...	OMIM:609040
Congenital Anomalies Of Kidney And Urinary Tract 2	Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone...	OMIM:143400
Behçet Disease	Gastrointestinal hemorrhage, Aortic regurgitation, Pleuritis, Myositis, Vasculitis, Pleural effus...	ORPHA:117
Myasthenic Syndrome, Congenital, 16	Apnea	OMIM:614198
Acute Peripheral Arterial Occlusion	Paralysis, Limb muscle weakness	ORPHA:90064
Wieacker-Wolff Syndrome	Cerebral atrophy, High anterior hairline, Congenital foot contractures, Distal amyotrophy, Facial...	OMIM:314580
Fatal Familial Insomnia	Neuronal loss in central nervous system, Abnormal autonomic nervous system physiology, Apnea, Ata...	OMIM:600072
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Decreased sensory nerve conduction velocity, Increased variability in muscle fiber diameter, Fail...	OMIM:619026
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis...	ORPHA:730
Congenital Aortic Valve Stenosis	Abnormal left ventricular function, Reduced left ventricular ejection fraction, Aortic valve atre...	ORPHA:3093
Snakebite Envenomation	Tachycardia, Cerebral ischemia, Muscle fiber necrosis, Hypotension, Angioedema, Hyponatremia, Rha...	ORPHA:449285
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Ataxia, Palatal tremor, Optic atrophy, Babinski sign, Decreased nerve conduct...	ORPHA:909
Chronic Hiccup	Abnormality of the diaphragm, Recurrent singultus, Weight loss	ORPHA:396
Poems Syndrome	Pleural effusion, Ascites, Pulmonary arterial hypertension, Pericardial effusion, Papilledema, We...	ORPHA:2905
Atypical Rett Syndrome	Pill-rolling tremor, Sudden episodic apnea, Impaired pain sensation, Tremor, Abnormal autonomic n...	ORPHA:3095
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Increased variability in muscle fiber diameter, Ataxia, Inability to walk, Gait ataxia	OMIM:617915
Mcdonough Syndrome	Cachexia, Aplasia/Hypoplasia of the abdominal wall musculature	ORPHA:2471
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Bronchiecta...	OMIM:619705
Cardiomyopathy, Dilated, 2E	Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function	OMIM:619492
Optic Atrophy 11	Optic atrophy, Decreased sensory nerve conduction velocity, Optic nerve hypoplasia, Brain atrophy...	OMIM:617302
Chronic Thromboembolic Pulmonary Hypertension	Congestive heart failure, Increased pulmonary vascular resistance, Elevated circulating C-reactiv...	ORPHA:70591
Vocal Cord Paralysis And Ptosis	Vocal cord paralysis	OMIM:193240
Congenital Myopathy 22B, Severe Fetal	Polyhydramnios, Respiratory distress, Shoulder flexion contracture, Hypoplasia of the musculature...	OMIM:620369
Alkuraya-Kucinskas Syndrome	Pleural effusion, Camptodactyly, Pericardial effusion, Edema, Arthrogryposis multiplex congenita	OMIM:617822
Machado-Joseph Disease Type 3	Progressive cerebellar ataxia, Degeneration of the striatum, Cerebellar atrophy, Dystonia, Skelet...	ORPHA:276244
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Renal cy...	OMIM:263200
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Pulmonic stenosis, Secundum atrial septal defect, Abnormal EKG	OMIM:178650
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Dilated cardiomyopathy, Ventricular septal defect, Hypercholesterolemia	OMIM:616730
X-Linked Creatine Transporter Deficiency	Hypertonia, Aganglionic megacolon, Cachexia, Chorea, Athetosis, Ataxia	ORPHA:52503
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Brugada Syndrome	Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc...	ORPHA:130
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Congestive heart failure, Global brain atrophy, Aortic regurgitation, Cardiomegaly, Cerebellar at...	OMIM:620066
Myotonic Dystrophy 1	Cerebral atrophy, Polyhydramnios, Atrial flutter, Respiratory distress, Atrial fibrillation, Faci...	OMIM:160900
Bronchopulmonary Dysplasia	Central apnea, Respiratory distress, Dyspnea, Right ventricular hypertrophy, Small for gestationa...	ORPHA:70589
Hsd10 Disease	Optic atrophy, Frontotemporal cerebral atrophy, Tremor, Rigidity, Ataxia, Myoclonus, Spastic para...	ORPHA:391417
Joubert Syndrome 23	Tachypnea, Apnea	OMIM:616490
Myasthenic Syndrome, Congenital, 24, Presynaptic	Apnea, Distal arthrogryposis, Camptodactyly, Knee flexion contracture	OMIM:618198
Galloway-Mowat Syndrome 7	Edema, Dilated cardiomyopathy, Ventricular septal defect, Hypercholesterolemia	OMIM:618348
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Elevated circ...	ORPHA:368
Cardiomyopathy, Familial Hypertrophic, 18	Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertrophic cardiomyopathy, Left ventricula...	OMIM:613874
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Bradycardia, Hypertension, Retinal hemorrhage, Apnea, Flexion contracture, Tachycardia, Ventricul...	OMIM:614653
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Polyhydramnios, Hypocalcemia, Pleural effusion, Ascites, Pericardial effusi...	OMIM:618183
Spinal Arteriovenous Metameric Syndrome	Bone pain, Fatigue, Paraparesis, Arthralgia, Gangrene	ORPHA:53721
Arachnoid Cyst	Urinary incontinence, Distal sensory impairment, Abdominal pain, Facial palsy, Lower limb muscle ...	ORPHA:2356
Methylmalonic Aciduria, Cblb Type	Elevated circulating methylmalonylcarnitine concentration, Methylmalonic acidemia, Respiratory di...	OMIM:251110
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Cachexia, Elbow flexion contracture, Hyperesthesia, EMG: myopathic abno...	ORPHA:371364
Congenital Myopathy With Myasthenic-Like Onset	Type 1 muscle fiber predominance, Scapular winging, EMG: myopathic abnormalities, Gait disturbanc...	ORPHA:424107
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Abnormal lung lobation, Congenital diaphragmatic hernia, Atrioventricular canal defect, Abnormal ...	ORPHA:1120
Joubert Syndrome 33	Apnea, Ataxia	OMIM:617767
Acromicric Dysplasia	Decreased nerve conduction velocity	ORPHA:969
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Central Hypoventilation Syndrome, Congenital, 3	Apnea, Central hypoventilation	OMIM:619483
Lymphedema-Distichiasis Syndrome	Patent ductus arteriosus, Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmune...	OMIM:153400
Ane Syndrome	Generalized amyotrophy, Multiple joint contractures, Motor neuron atrophy, Alopecia	ORPHA:157954
Follicular Lymphoma	Lymphedema, Pleural effusion, Weight loss	ORPHA:545
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Muscular dystrophy, Generalized limb muscle atrophy, Prolonged QT interval, Hypoglycosylation of ...	OMIM:615351
Malignant Hyperthermia Of Anesthesia	Acute rhabdomyolysis, Hyperkalemia, Abnormality of masseter muscle, Necrotizing myopathy, Cardiom...	ORPHA:423
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Inability to walk, Loss of ability to walk in early childhood, Ragged-red muscle fibers, Facial d...	OMIM:609560
Primary Lateral Sclerosis	Spastic gait, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, Spastici...	ORPHA:35689
Gorham-Stout Disease	Edema, Pleural effusion, Torticollis, Spinal cord compression	ORPHA:73
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Abnormal left ventricle morphology, Azoospermia, Hypertension, Cerebral hemorrhage, Dilated cardi...	OMIM:300845
Indomethacin Embryofetopathy	Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Ventricular septal defect, Oligohydramnios	ORPHA:1909
Neurofibromatosis, Familial Spinal	Spinal neurofibroma, Symmetric spinal nerve root neurofibromas, Paraparesis, Plexiform neurofibro...	OMIM:162210
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Frontal hirsutism, Increased variability in muscle fiber diameter, Apnea, Generalized hirsutism, ...	OMIM:612949
Glycogen Storage Disease Due To Acid Maltase Deficiency	Glycogen accumulation in muscle fiber lysosomes, Atelectasis, Facial hypotonia, Left ventricular ...	ORPHA:365
Hereditary Sensory And Autonomic Neuropathy Type 1	Distal sensory impairment, Trophic changes related to pain, Impaired temperature sensation, Dista...	ORPHA:36386
Cardiomyopathy, Familial Hypertrophic, 7	Wolff-Parkinson-White syndrome, Atrial fibrillation, Ventricular hypertrophy, Hypertrophic cardio...	OMIM:613690
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru...	OMIM:610805
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia	OMIM:192605
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased circulating carnitine concentration, Decreased body weight, Failure to thrive, Decrease...	ORPHA:89842
Neuroleptic Malignant Syndrome	Hyperkalemia, Bradycardia, Hypocalcemia, Hyperuricemia, Hypertension, Dehydration, Abnormal auton...	ORPHA:94093
Lujo Hemorrhagic Fever	Myocarditis, Atelectasis, Elevated circulating C-reactive protein concentration, Bradycardia, Res...	ORPHA:319213
Combined Oxidative Phosphorylation Defect Type 39	Cerebral atrophy, Decreased nerve conduction velocity, Limb hypertonia, Bradycardia, Congenital f...	ORPHA:565624
Mantle Cell Lymphoma	Fatigue, Weight loss	ORPHA:52416
Symptomatic Form Of Hfe-Related Hemochromatosis	Congestive heart failure, Abnormality of iron homeostasis, Cardiomegaly, Elevated jugular venous ...	ORPHA:465508
Ovarian Hyperstimulation Syndrome	Pulmonary edema, Capillary leak, Pleural effusion, Ascites, Hypovolemia, Generalized edema, Perip...	ORPHA:64739
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Cerebral cortical atrophy, Amyotrophic lateral sclerosis, Ataxia	OMIM:615911
Mitochondrial Complex I Deficiency, Nuclear Type 33	Optic atrophy, Craniofacial dystonia, Apnea, Sparse hair, Small for gestational age	OMIM:618253
Moynahan Syndrome	Cachexia	ORPHA:2574
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Reduced left ventricular endsysto...	OMIM:612124
Combined Oxidative Phosphorylation Deficiency 3	Optic atrophy, Concentric hypertrophic cardiomyopathy, Patent foramen ovale, Elevated circulating...	OMIM:610505
Joubert Syndrome 30	Tachypnea, Apnea, Cerebellar atrophy	OMIM:617622
Multiminicore Myopathy	Muscular dystrophy, Proximal muscle weakness in upper limbs, Minicore myopathy, Abnormal muscle f...	ORPHA:598
Beta-Propeller Protein-Associated Neurodegeneration	Optic atrophy, Bradykinesia, Cerebral atrophy, Tremor, Cerebellar atrophy, Abnormal autonomic ner...	ORPHA:329284
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Cerebral atrophy, Polyhydramnios, Chylothorax, Type 1 muscle fiber atrophy, Type 2 muscle fiber p...	OMIM:619036
Mitochondrial Myopathy, Infantile, Transient	Increased muscle glycogen content, Decreased circulating carnitine concentration, Ragged-red musc...	OMIM:500009
Combined Oxidative Phosphorylation Defect Type 29	Global brain atrophy, Axonal degeneration, Abnormal autonomic nervous system physiology, Optic ne...	ORPHA:478029
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypokalemia, Patent foramen ovale, Hypertension, Ventricular septal defect, Decreased circulating...	OMIM:615474
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Tachypnea, Muscular ventricular septal defect, Reduced left ventri...	OMIM:620203
Machado-Joseph Disease Type 1	Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra...	ORPHA:276238
Machado-Joseph Disease Type 2	Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra...	ORPHA:276241
Renpenning Syndrome	Cachexia, Skeletal muscle atrophy	ORPHA:3242
Secondary Intestinal Lymphangiectasia	Anasarca, Lymphedema, Pleural effusion, Reduced circulating transferrin concentration, Decreased ...	ORPHA:90363
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Optic atrophy, Decreased motor nerve conduction velocity, Joint contracture, Skeletal muscle atrophy	OMIM:615419
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Congestive heart failure, Abnormal heart valve morphology, Hypertension, Hypertrophic cardiomyopa...	ORPHA:1345
Friedreich Ataxia	Optic atrophy, Limb ataxia, Impaired proprioception, Chorea, Sensory axonal neuropathy, Gait atax...	ORPHA:95
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Skeletal muscle hypertrophy, Ventricular hypertrophy, Cardiomyopathy, El...	OMIM:300280
Cednik Syndrome	Optic atrophy, Abnormality of peripheral nerve conduction, Ataxia	ORPHA:66631
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Failure to thrive, Ventric...	OMIM:300952
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Hepatic necrosis, Hypertrophic cardiomyopathy	OMIM:231530
Aspergillosis	Hypersensitivity pneumonitis, Pleuritis, Pleural effusion, Bronchiectasis, Intracranial hemorrhag...	ORPHA:1163
Gerstmann-Straussler Disease	Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Cerebellar atrophy, Gait ...	OMIM:137440
Neuromuscular Oculoauditory Syndrome	Peripheral hypomyelination, Decreased nerve conduction velocity, Sensory axonal neuropathy, Calf ...	OMIM:618733
Dominant Beta-Thalassemia	Abnormality of iron homeostasis, Hypoplasia of the musculature, Arrhythmia, Failure to thrive in ...	ORPHA:231226
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Generalized amyotrophy, Apneic episodes in infancy	OMIM:610006
Spastic Paraplegia Type 7	Spastic gait, Babinski sign, Ragged-red muscle fibers, Upper limb muscle weakness, Lower limb hyp...	ORPHA:99013
Thyrotoxic Periodic Paralysis	Hyperkalemia, Prolonged QT interval, Transient hypophosphatemia, Second degree atrioventricular b...	ORPHA:79102
Lymphoproliferative Syndrome 1	Pericardial effusion, Increased circulating ferritin concentration, Pleural effusion, Elevated ci...	OMIM:613011
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Aganglionic megacolon, Hypertension, Abnormal autonomic nervous system physiology, Flexion contra...	OMIM:613870
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Cardiomyopathy, Elevated circulating creatine kinase concentration, Rhab...	ORPHA:228305
Carnitine-Acylcarnitine Translocase Deficiency	Sudden episodic apnea, Decreased circulating carnitine concentration, Cardiomyopathy, Hypotension...	ORPHA:159
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Limb hypertonia, Tremor, Cerebellar atrophy, Exaggerated startle response, Ga...	OMIM:618056
Eosinophilic Granulomatosis With Polyangiitis	Myocarditis, Congestive heart failure, Myositis, Vasculitis, Hypertension, Transient ischemic att...	ORPHA:183
Microphthalmia, Syndromic 12	Congenital diaphragmatic hernia, Ventricular septal defect, Hypoplastic left atrium, Pulmonary hy...	OMIM:615524
Hellp Syndrome	Pulmonary edema, Increased body weight, Pleural effusion, Hypotension, Internal hemorrhage, Gener...	ORPHA:244242
Cutis Laxa-Marfanoid Syndrome	Congenital diaphragmatic hernia, Abnormal heart valve morphology, Emphysema, Flexion contracture	ORPHA:171719
Benign Familial Neonatal Epilepsy	Apnea	ORPHA:1949
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Ragged-red muscle fibers, Elevated circulating creatine kinase concentration, Cerebral cortical a...	OMIM:617070
Congenital Sialidosis Type 2	Optic atrophy, Ascites, Abnormal heart morphology, Respiratory tract infection, Edema, Abnormal E...	ORPHA:93400
Myopathic Ehlers-Danlos Syndrome	Ankle flexion contracture, Weakness of facial musculature, Foot joint contracture, Congenital mus...	ORPHA:536516
Developmental And Epileptic Encephalopathy 90	Cerebral atrophy, Apneic episodes in infancy, Limb hypertonia	OMIM:301058
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Congestive heart failure, Abnormal aortic valve morphology, Hypertrophic cardiomyopathy, Cerebral...	ORPHA:1194
Whipple Disease	Myositis, Cachexia, Abdominal pain, Fatigue, Ataxia, Arthralgia, Myoclonus, Abnormal pyramidal si...	ORPHA:3452
Developmental And Epileptic Encephalopathy 99	Frontotemporal cerebral atrophy, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy...	OMIM:619606
Heart-Hand Syndrome, Spanish Type	Sick sinus syndrome	OMIM:140450
Bethlem Muscular Dystrophy	Wrist flexion contracture, Limb-girdle muscle weakness, Quadriceps muscle weakness, Difficulty wa...	ORPHA:610
Juvenile Dermatomyositis	Palpebral edema, Gastrointestinal hemorrhage, Calcinosis, Elevated circulating C-reactive protein...	ORPHA:93672
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Congenital diaphragmatic hernia, Retinal telangiectasia, Cerebellar atrophy, Telangiectasia of th...	ORPHA:438134
Auriculocondylar Syndrome 2A	Apnea, Respiratory distress	OMIM:614669
Bohring-Opitz Syndrome	Optic atrophy, Severe failure to thrive, Facial hypotonia, Bradycardia, Bilateral wrist flexion c...	ORPHA:97297
Pontocerebellar Hypoplasia, Type 7	Optic atrophy, Cerebral atrophy, Hirsutism, Synophrys, Apnea, Ataxia, Opisthotonus, Skeletal musc...	OMIM:614969
Congenital Myopathy 11	Apneic episodes in infancy, Weakness of facial musculature	OMIM:619967
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ...	OMIM:613092
Oculogastrointestinal Muscular Dystrophy	Cachexia, Skeletal muscle atrophy, Myopathy	ORPHA:1876
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Optic atrophy, Decreased nerve conduction velocity, Hypsarrhythmia, Cerebellar atrophy, Abnormali...	ORPHA:485421
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block	Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin	OMIM:609438
Sialidosis Type 1	EEG abnormality, Decreased nerve conduction velocity, Ataxia, Skeletal muscle atrophy	ORPHA:812
Myopathy With Lactic Acidosis, Hereditary	Elevated circulating creatine kinase concentration, Increased variability in muscle fiber diamete...	OMIM:255125
Biotinidase Deficiency	Optic atrophy, Hyperventilation, Respiratory distress, Optic neuropathy, Limb muscle weakness, Ap...	ORPHA:79241
Double Outlet Right Ventricle	Hypocalcemia, Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Failure to thrive,...	ORPHA:3426
Chromosome 5Q12 Deletion Syndrome	Decreased body mass index, Patent foramen ovale, Ventricular septal defect, Hypotension, Increase...	OMIM:615668
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Apnea, Dystonia, Abnormal autonomic nervous system physiology, Hyperventilation	OMIM:617903
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Congenital Myopathy 21 With Early Respiratory Failure	Lipoid pneumonia, Brain atrophy, Elevated circulating creatine kinase concentration, EMG: myopath...	OMIM:620326
Scimitar Syndrome	Bronchogenic cyst, Pulmonary sequestration, Left-to-right shunt, Hypoplasia of the diaphragm, Abn...	ORPHA:185
Kallmann Syndrome-Heart Disease Syndrome	Pulmonary insufficiency, Congestive heart failure, Aortic regurgitation, Pulmonary artery hypopla...	ORPHA:2326
Primary Pulmonary Hypoplasia	Pneumothorax, Abnormal hemidiaphragm morphology, Dextrocardia, Tachypnea, Failure to thrive, Secu...	ORPHA:2257
Infantile Refsum Disease	Optic atrophy, Cardiomyopathy, Facial palsy, Elevated circulating phytanic acid concentration, Fa...	ORPHA:772
Porphyria, Acute Hepatic	Paralysis, Respiratory paralysis	OMIM:612740
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Cerebral atrophy, Right ventricular dilatation, Limb-girdle muscular dystrophy, Myopathy	ORPHA:369847
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card...	OMIM:611819
Fabry Disease	Abnormal circulating lipid concentration, Hypertension, Hyperlipidemia, Left ventricular hypertro...	ORPHA:324
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Palpebral edema, Hydrops fetalis, Predominantly lower limb lymphedema, Pleural effusion, Ascites,...	ORPHA:69735
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ...	OMIM:604559
Lymphatic Malformation 6	Atrial septal defect, Polyhydramnios, Genital edema, Chylothorax, Lymphedema, Pleural effusion, A...	OMIM:616843
Pontocerebellar Hypoplasia, Type 13	Edema, Failure to thrive, Recurrent respiratory infections, Pleural effusion	OMIM:618606
Congenital Arthrogryposis With Anterior Horn Cell Disease	Cerebral atrophy, Abnormal anterior horn cell morphology, Facial diplegia, Neonatal death, Dyston...	OMIM:611890
Hyperinsulinism Due To Ucp2 Deficiency	Large for gestational age, Tachycardia, Hypertrophic cardiomyopathy, Increased C-peptide level, D...	ORPHA:276556
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia, Ventricular septal defect, Pedal edema, Patent ductus arteriosus	OMIM:126320
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Congenital diaphragmatic hernia, Abnormal heart morphology, Emphysema	OMIM:614100
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Type II pneumocyte hypertrophy, Failure to thrive, Recurrent upper respirat...	OMIM:263000
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Limb muscle weakness	OMIM:619133
Laryngotracheal Angioma	Apnea, Intercostal retractions, Respiratory distress	ORPHA:137935
Glycogen Storage Disease Due To Aldolase A Deficiency	Hyperkalemia, EMG: myopathic abnormalities, Elevated creatine kinase after exercise, Skeletal myo...	ORPHA:57
Farber Disease	Brain atrophy, Spasticity, Paraparesis, Failure to thrive, Arthralgia, Skeletal muscle atrophy, F...	ORPHA:333
Metachromatic Leukodystrophy	Optic atrophy, Decreased nerve conduction velocity, Chorea, Ataxia, Peripheral demyelination	OMIM:250100
Myopathy, X-Linked, With Excessive Autophagy	Muscle fiber necrosis, Skeletal muscle autophagosome accumulation, Skeletal muscle atrophy, Flexi...	OMIM:310440
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Pleural effusion, Pericardial effusion, Abnormal lung morphology, Epistaxis,...	ORPHA:464329
Dextrocardia	Abnormal lung lobation, Situs inversus totalis, Dextrocardia, Abnormal heart morphology, Abnormal...	ORPHA:1666
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Atrioventricular canal defect, Transposition of the great arteri...	ORPHA:251071
Charcot-Marie-Tooth Disease Type 4C	Optic atrophy, Impaired pain sensation, Positive Romberg sign, Distal amyotrophy, Impaired distal...	ORPHA:99949
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Optic atrophy, Cerebral atrophy, Hydrops fetalis, Methylmalonic acidemia, Respiratory distress, H...	ORPHA:79282
Bone Dysplasia, Lethal Holmgren Type	Recurrent respiratory infections, Hypertrophic cardiomyopathy, Failure to thrive, Weight loss, Pa...	ORPHA:1842
Romano-Ward Syndrome	Torsade de pointes, Hypokalemia, Prolonged QTc interval, Abnormal autonomic nervous system physio...	ORPHA:101016
Overlap Myositis	Abnormal circulating lipid concentration, Proximal muscle weakness in upper limbs, Abnormal pulmo...	ORPHA:206572
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Congenital diaphragmatic hernia, Cerebral cortical atrophy, Tetralogy of Fallot, Abnormality of t...	ORPHA:1166
Myopathy, Myofibrillar, 7	Shoulder flexion contracture, Type 2 muscle fiber predominance, Elbow flexion contracture, Facial...	OMIM:617114
Bronchial Neuroendocrine Tumor	Abnormal pulmonary interstitial morphology, Hypotension, Tricuspid regurgitation, Facial telangie...	ORPHA:97287
Horner Syndrome, Congenital	Paralysis	OMIM:143000
Arterial Tortuosity Syndrome	Myocarditis, Congestive heart failure, Respiratory distress, Hypertension, Cardiac arrest, Hypert...	ORPHA:3342
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Muscular dystrophy, Pontocerebellar atrophy, Atelectasis, Recurrent lower respiratory tract infec...	ORPHA:258
Juvenile Primary Lateral Sclerosis	Abnormal upper motor neuron morphology, Skeletal muscle atrophy	ORPHA:247604
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia, Hypertonia	ORPHA:1389
Nestor-Guillermo Progeria Syndrome	Left atrial enlargement, Hypertension, Sinus tachycardia, Right bundle branch block, Pulmonary ar...	OMIM:614008
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Decreased nerve conduction velocity, Distal sensory impairment, Distal amyotrophy, Decreased numb...	ORPHA:477817
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Muscular dystrophy, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Elevated circulating cr...	OMIM:613157
Glycogen Storage Disease Ixd	Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Distal amyotr...	OMIM:300559
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Decreased nerve conduction velocity, Brain atrophy, Atrophy of the spinal c...	ORPHA:167
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Optic atrophy, Acute rhabdomyolysis, Global brain atrophy, Prolonged QT interval, EMG: myopathic ...	ORPHA:480864
Nocardiosis	Pneumothorax, Emphysema, Pleuritis, Respiratory distress, Abnormal heart valve morphology, Pleura...	ORPHA:31204
Brucellosis	Lung abscess, Myocarditis, Abnormal aortic valve morphology, Arteritis, Abnormality of the periph...	ORPHA:1304
Peroxisome Biogenesis Disorder 11A (Zellweger)	Failure to thrive, Apnea	OMIM:614883
Vici Syndrome	Atrial septal defect, Congestive heart failure, Recurrent respiratory infections, Cardiomyopathy,...	OMIM:242840
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Cerebral atrophy, Atrial septal defect, Methylmalonic acidemia, Hyperhomocystinemia, Pulmonary ar...	OMIM:614857
Eosinophilic Fasciitis	Myositis, Muscular edema, Fatigue, Arthralgia, Weight loss, Myalgia, Paresthesia	ORPHA:3165
Beta-Thalassemia Major	Abnormality of iron homeostasis, Hypoplasia of the musculature, Arrhythmia, Failure to thrive in ...	ORPHA:231214
Combined Oxidative Phosphorylation Deficiency 29	Optic atrophy, Global brain atrophy, Axonal degeneration, Cerebellar atrophy, Optic neuropathy	OMIM:616811
Adams-Oliver Syndrome 5	Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement, Pulmonic stenosi...	OMIM:616028
Combined Oxidative Phosphorylation Defect Type 27	Ragged-red muscle fibers, Upper limb postural tremor, Tetraparesis, Involuntary movements	ORPHA:477774
Liver Disease, Severe Congenital	Left atrial enlargement, Hypoproteinemia, Ascites, Hyperammonemia, Cardiomegaly, Hypocalcemia, Pa...	OMIM:619991
Intermediate Nemaline Myopathy	Difficulty walking, Facial diplegia, Facial palsy, EMG: myopathic abnormalities, Nemaline bodies,...	ORPHA:171433
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Large for gestational age, Tachycardia, Hypertrophic cardiomyopathy, Increased C-peptide level, D...	ORPHA:276575
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Rhabdomyolysis, Weight loss, Tachycardia, Palpitations	OMIM:188580
Refsum Disease, Classic	Congestive heart failure, Cardiomyopathy, Limb muscle weakness, Elevated circulating phytanic aci...	OMIM:266500
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Palpebral edema, Hypertension, Pleural effusion, Ascites, Hyperlipidemia, Respiratory tract infec...	ORPHA:567546
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Cerebral atrophy, Methylmalonic acidemia, Patent ductus arteriosus, Respiratory distress, Ragged-...	ORPHA:17
Scapuloperoneal Spinal Muscular Atrophy	Muscle fiber splitting, Peroneal muscle weakness, Torticollis, Amyoplasia, Progressive distal mus...	OMIM:181405
Congenital Neuronal Ceroid Lipofuscinosis	Apnea, Cerebellar atrophy	ORPHA:168486
Benign Familial Infantile Epilepsy	Apnea	ORPHA:306
D-Glyceric Aciduria	Elevated circulating D-glyceric concentration, Nonketotic hyperglycinemia, Bradycardia, Optic ner...	OMIM:220120
Idiopathic Achalasia	Bronchitis, Decreased circulating prealbumin concentration, Recurrent aspiration pneumonia, Weigh...	ORPHA:930
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic atrophy, Abnormal auditory evoked potentials, Increased variability in muscle fiber diamete...	OMIM:125250
Hyperekplexia 1	Aspiration, Apnea, Exaggerated startle response	OMIM:149400
Myelopathy, Htlv-1-Associated	Abnormal pyramidal sign, Spastic paraparesis	OMIM:159580
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Decreased sensory nerve conduction velocity, Foot joint contracture, Distal amyotrophy, Facial pa...	ORPHA:456312
Joubert Syndrome 9	Apnea, Episodic tachypnea	OMIM:612285
Sick Sinus Syndrome 3, Susceptibility To	Sick sinus syndrome	OMIM:614090
Neutrophilic Dermatosis, Acute Febrile	Small vessel vasculitis, Dilated cardiomyopathy, Elevated circulating C-reactive protein concentr...	OMIM:608068
Familial Short Qt Syndrome	Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor...	ORPHA:51083
Isolated Congenital Hypoglossia/Aglossia	Weight loss, Aspiration pneumonia, Respiratory distress	ORPHA:141152
Neuronal Intestinal Pseudoobstruction	Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal cardiac septum morphology	ORPHA:99811
Singleton-Merten Syndrome 1	Congestive heart failure, Pleural effusion, Decreased body weight, Mitral valve calcification, Ao...	OMIM:182250
Idiopathic Bronchiectasis	Cachexia, Halitosis, Chest pain	ORPHA:60033
Joubert Syndrome 7	Tachypnea, Ataxia, Central apnea, Episodic tachypnea	OMIM:611560
Glycine Encephalopathy With Normal Serum Glycine	Optic atrophy, Elbow flexion contracture, Exaggerated startle response, Long eyelashes, Hip contr...	OMIM:617301
Bacterial Toxic-Shock Syndrome	Myocarditis, Pneumonia, Elevated circulating creatinine concentration, Tachycardia, Myositis, Cap...	ORPHA:36234
Igg4-Related Pachymeningitis	Abnormality of cervical plexus, Neck pain, Pain, Paraparesis, Low back pain, Abnormality of the b...	ORPHA:449427
Propionic Acidemia	Hyperammonemia, Cardiomyopathy, Arrhythmia	ORPHA:35
Hypothyroidism Due To Tsh Receptor Mutations	Bradycardia, Increased circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Edem...	ORPHA:90673
Acquired Aneurysmal Subarachnoid Hemorrhage	Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Cerebral ischemi...	ORPHA:90065
Bilateral Perisylvian Polymicrogyria	Limb hypertonia, Oromotor apraxia, Lower limb spasticity, Abnormality of masticatory muscle, Spas...	ORPHA:98889
Combined Oxidative Phosphorylation Deficiency 49	Ragged-red muscle fibers, Difficulty walking	OMIM:619024
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Cerebral atrophy, Peripheral hypomyelination, Aganglionic megacolon, Decreased nerve conduction v...	OMIM:609136
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Babinski sign, Distal amyotrophy, Athetosis, Involuntary movements, Fiber type grouping, Ataxia, ...	OMIM:271245
Combined Oxidative Phosphorylation Deficiency 15	Optic atrophy, Ventricular septal hypertrophy, Wolff-Parkinson-White syndrome, Hypertension, Obes...	OMIM:614947
Primary Triglyceride Deposit Cardiomyovasculopathy	Angina pectoris, Low-output congestive heart failure, Rimmed vacuoles, Cardiomyopathy, Hyperlipid...	ORPHA:565612
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Large for gestational age, Tachycardia, Hypertrophic cardiomyopathy, Increased C-peptide level, S...	ORPHA:276580
Arterial Calcification, Generalized, Of Infancy, 1	Congestive heart failure, Hypophosphatemic rickets, Hypertension, Cardiomegaly, Dilated cardiomyo...	OMIM:208000
Carnitine Palmitoyl Transferase 1A Deficiency	Transient hyperlipidemia, Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Arrhythmia, Sudde...	ORPHA:156
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Flexion contracture, Cardiomyopathy, Myopathy, Nemaline bodies	OMIM:616549
48,Xxyy Syndrome	Apnea, Tremor, Ataxia, Obesity	ORPHA:10
Huntington Disease-Like 1	Bradykinesia, Chorea, Incoordination, Poor fine motor coordination, Cerebellar atrophy, Frequent ...	ORPHA:157941
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Muscle fiber splitting, Muscular dystrophy, Nail dystrophy, Scarring alopecia of scalp, Increased...	OMIM:226670
Idiopathic Chronic Eosinophilic Pneumonia	Hypersensitivity pneumonitis, Atelectasis, Elevated circulating C-reactive protein concentration,...	ORPHA:2902
Wolff-Parkinson-White Syndrome	Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu...	OMIM:194200
Mitochondrial Complex I Deficiency, Nuclear Type 35	Cardiomyopathy, Hyperalaninemia, Pulmonary arterial hypertension, Pulmonary hypoplasia, Nonimmune...	OMIM:619003
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Acute infectious pneumonia, Abnormal circulating protein concentration, Ele...	ORPHA:264675
Cardiomyopathy, Familial Hypertrophic, 17	Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Myocardial fibro...	OMIM:613873
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Pulmonary insufficiency, Aortic regurgitation, Tricuspid regurgitation, Right atrial enlargement,...	ORPHA:555877
Primary Lateral Sclerosis, Juvenile	Abnormal upper motor neuron morphology, Cerebral cortical atrophy, Decreased compound muscle acti...	OMIM:606353
Gm1 Gangliosidosis	Optic atrophy, Congestive heart failure, Hydrops fetalis, Patent ductus arteriosus, Ventricular s...	ORPHA:354
Neuroendocrine Tumor Of The Colon	Melena, Hypotension, Tricuspid regurgitation, Facial telangiectasia, Right ventricular failure, W...	ORPHA:100080
Myotonia, Potassium-Aggravated	Skeletal muscle hypertrophy, Apneic episodes in infancy, Skeletal muscle atrophy	OMIM:608390
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Optic atrophy, Brain atrophy, Atrophy of the spinal cord, Failure to thrive, Apnea, Ataxia, Lower...	ORPHA:395
Combined Oxidative Phosphorylation Deficiency 33	Cardiomyopathy, Cardiac arrest, Elevated circulating creatine kinase concentration, Cerebral edem...	OMIM:617713
Majeed Syndrome	Bone pain, Cachexia, Failure to thrive, Arthralgia, Flexion contracture, Weight loss, Myalgia	ORPHA:77297
Aicardi-Goutieres Syndrome 9	Optic atrophy, Cerebral atrophy, Increased blood pressure, Hypertension, Ascites, Portal hyperten...	OMIM:619487
Neuraminidase Deficiency	Hydrops fetalis, Cardiomyopathy, Ascites, Skeletal muscle atrophy, Cardiomegaly, Facial edema	OMIM:256550
Fetal Encasement Syndrome	Congenital diaphragmatic hernia, Bilateral trilobed lung, Tetralogy of Fallot	OMIM:613630
Primary Sclerosing Cholangitis	Congestive heart failure, Spider hemangioma, Pleural effusion, Ascites, Portal hypertension, Gene...	ORPHA:171
Progressive Familial Heart Block, Type Ii	Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc...	OMIM:140400
Chromosome 6Q24-Q25 Deletion Syndrome	Atrial septal defect, Persistent fetal circulation, Patent ductus arteriosus, Respiratory distres...	OMIM:612863
Mitochondrial Membrane Protein-Associated Neurodegeneration	Optic atrophy, Babinski sign, Bradykinesia, Urinary incontinence, Spasticity, Frequent falls, Bow...	ORPHA:289560
Serkal Syndrome	Congenital diaphragmatic hernia, Pulmonic stenosis, Pulmonary hypoplasia, Ventricular septal defe...	ORPHA:139466
Hereditary Butyrylcholinesterase Deficiency	Paralysis	ORPHA:132
Interatrial Communication	Congestive heart failure, Atrial septal defect, Atrial flutter, Sinus venosus atrial septal defec...	ORPHA:1478
De Sanctis-Cacchione Syndrome	Optic atrophy, Babinski sign, Hypertonia, Cerebral atrophy, Global brain atrophy, Scissor gait, A...	OMIM:278800
Combined Oxidative Phosphorylation Deficiency 39	Cerebral atrophy, Cerebellar atrophy, Congenital contracture, Joint contracture, Sinus bradycardi...	OMIM:618397
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Increased muscle glycogen content, Respiratory distress, Ragged-red muscle fibers, Decreased circ...	ORPHA:254864
Huntington Disease	Bradykinesia, Babinski sign, Cerebral atrophy, Decreased body mass index, Degeneration of the str...	ORPHA:399
Long Qt Syndrome 9	Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia...	OMIM:611818
Multiple Acyl-Coa Dehydrogenase Deficiency	Congestive heart failure, Decreased circulating carnitine concentration, Gliosis, Scapular wingin...	ORPHA:26791
Severe X-Linked Intellectual Disability, Gustavson Type	Optic atrophy, Brain atrophy, Apneic episodes in infancy, Contractures of the large joints, Small...	ORPHA:3078
Plaa-Associated Neurodevelopmental Disorder	Optic atrophy, Cerebellar cortical atrophy, Limb hypertonia, Hirsutism, Exaggerated startle respo...	ORPHA:521426
Biotinidase Deficiency	Optic atrophy, Apnea, Ataxia, Diffuse cerebral atrophy, Diffuse cerebellar atrophy, Tachypnea, Al...	OMIM:253260
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Oculogyric crisis, Limb hypertonia, Athetosis, Blepharospasm, Limb dystonia, Exagger...	OMIM:608643
Cutis Laxa, Autosomal Recessive, Type Ib	Congenital diaphragmatic hernia, Pulmonary insufficiency, Pulmonary artery aneurysm, Emphysema, B...	OMIM:614437
Isolated Thyroid-Stimulating Hormone Deficiency	Bradycardia, Abnormal circulating thyroglobulin concentration, Failure to thrive, Neonatal hyperb...	ORPHA:90674
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Spina bifida occulta, Arthrogryposis multiplex congenita, Cerebral cortical atrophy, Flexion cont...	OMIM:618291
Rheumatic Fever	Myocarditis, Abnormal aortic valve morphology, Recurrent pharyngitis, Abnormal heart valve morpho...	ORPHA:3099
Familial Mediterranean Fever	Elevated circulating C-reactive protein concentration, Pleuritis, Pleural effusion, Pericarditis,...	OMIM:249100
Glossopharyngeal Neuralgia	Abnormal glossopharyngeal nerve morphology, Bradycardia, Cranial nerve compression, Jaw claudicat...	ORPHA:221098
Sepsis In Premature Infants	Elevated circulating C-reactive protein concentration, Tachycardia, Bradycardia, Decreased body w...	ORPHA:90051
Neurological Conditions Associated With Aminoacylase 1 Deficiency	Syringomyelia, Apnea	ORPHA:137754
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Optic atrophy, Respiratory distress, Cardiomyopathy, Dehydration, Hyperammonemia, Failure to thrive	ORPHA:79312
Autosomal Dominant Optic Atrophy Plus Syndrome	Optic atrophy, Temporal optic disc pallor, Cardiomyopathy, Absent brainstem auditory responses, L...	ORPHA:1215
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Optic atrophy, Hypomimic face, Hirsutism, Exaggerated startle response, Cerebral cortical atrophy...	OMIM:617527
Joubert Syndrome	Aganglionic megacolon, Highly arched eyebrow, Tremor, Apnea, Ataxia, Abnormal pattern of respirat...	ORPHA:475
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Elevated circulating suberic acid concentration, Increased serum pyruvate, Hyperalaninemia, Hyper...	OMIM:615160
Typical Nemaline Myopathy	Polyhydramnios, Facial diplegia, Facial palsy, Elevated circulating creatine kinase concentration...	ORPHA:171436
Hemochromatosis, Type 2B	Congestive heart failure, Cardiomyopathy, Increased circulating iron concentration, Elevated tran...	OMIM:613313
Infantile Neuroaxonal Dystrophy	Optic atrophy, Cerebellar atrophy, Abnormal autonomic nervous system physiology, Dystonia, Ataxia...	ORPHA:35069
Boucher-Neuhauser Syndrome	Spinocerebellar atrophy, Abnormal upper motor neuron morphology, Distal amyotrophy, Cerebellar at...	OMIM:215470
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Optic atrophy, Acute rhabdomyolysis, Cerebral atrophy, Prolonged QTc interval, Cardiac arrest, El...	OMIM:616878
Naxos Disease	Congestive heart failure, Paroxysmal ventricular tachycardia, Cardiomyopathy, Arrhythmia, Sudden ...	ORPHA:34217
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Hypertension, Papilledema, Atrioventricular block, Mitral valve prolapse, Bicuspid aortic valve, ...	ORPHA:371428
Zygomycosis	Pneumothorax, Hematemesis, Gastrointestinal hemorrhage, Myocarditis, Atelectasis, Melena, Abnorma...	ORPHA:73263
X-Linked Parkinsonism-Spasticity Syndrome	Bradykinesia, Babinski sign, Scissor gait, Resting tremor, Spasticity, Cogwheel rigidity, Diffuse...	ORPHA:363654
Waldenström Macroglobulinemia	Congestive heart failure, Gastrointestinal hemorrhage, Vasculitis, Pleural effusion, Retinal hemo...	ORPHA:33226
Lymphangioleiomyomatosis	Optic atrophy, Pneumothorax, Gastrointestinal hemorrhage, Atelectasis, Emphysema, Recurrent respi...	ORPHA:538
Laryngeal Neuroendocrine Tumor	Neuroendocrine neoplasm, Chronic fatigue, Weight loss	ORPHA:100083
Surfactant Metabolism Dysfunction, Pulmonary, 1	Dyspnea, Failure to thrive, Apnea, Neonatal death, Tachypnea	OMIM:265120
Hemochromatosis, Type 4	Elevated transferrin saturation, Increased circulating ferritin concentration, Cardiomyopathy, Ar...	OMIM:606069
Lethal Congenital Contracture Syndrome 9	Polyhydramnios, Abnormality of the diaphragm, Wrist flexion contracture, Congenital contracture, ...	OMIM:616503
Phosphoribosylpyrophosphate Synthetase Superactivity	Hyperuricemia, Hypertension, Cardiomyopathy, Arrhythmia	ORPHA:3222
Dyskeratosis Congenita, Autosomal Dominant 2	Failure to thrive, Dilated cardiomyopathy, Pulmonary fibrosis	OMIM:613989
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Situs inversus totalis, Cardiomyopathy, Arrhythmia, Atrial septal defect, Ventricu...	OMIM:249270
Microphthalmia With Linear Skin Defects Syndrome	Congenital diaphragmatic hernia, Tricuspid valve prolapse, Respiratory distress, Tricuspid regurg...	ORPHA:2556
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Hypoventilation, Respiratory distress, Brain atrophy, Sparse lateral eyebrow, Apnea	ORPHA:314655
Alternating Hemiplegia Of Childhood	Facial hypotonia, Respiratory distress, Cardiomyopathy, Dehydration, Abnormal autonomic nervous s...	ORPHA:2131
Cardiogenic Shock	Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure...	ORPHA:97292
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hypokalemia, Hypertension, Ventricular hypertrophy, Pulmonary arterial hypertension, Epistaxis, I...	ORPHA:369929
Kcnq2-Related Epileptic Encephalopathy	Cerebral atrophy, Apnea, Dystonia	ORPHA:439218
Cardiocranial Syndrome, Pfeiffer Type	Torticollis, Plantar flexion contracture, Abnormal heart morphology, Episodic tachypnea, Small hy...	ORPHA:2872
Myotonic Dystrophy 2	Right bundle branch block, Oligozoospermia, Elevated circulating creatine kinase concentration, P...	OMIM:602668
Yuan-Harel-Lupski Syndrome	Failure to thrive, Decreased nerve conduction velocity, Distal sensory impairment, Gait ataxia	OMIM:616652
Emanuel Syndrome	Congenital diaphragmatic hernia, Atrial septal defect, Cerebral atrophy, Torticollis, Truncus art...	OMIM:609029
Neuroendocrine Tumor Of The Rectum	Melena, Hypotension, Tricuspid regurgitation, Facial telangiectasia, Right ventricular failure, H...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Melena, Hypotension, Tricuspid regurgitation, Facial telangiectasia, Right ventricular failure, H...	ORPHA:100082
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Bradykinesia, Ragged-red muscle fibers, Resting tremor, Parkinsonism with favorable response to d...	OMIM:157640
Creatine Phosphokinase, Elevated Serum	Muscular dystrophy, Inflammatory myopathy, EMG: myopathic abnormalities, Abnormal muscle fiber mo...	OMIM:123320
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Optic atrophy, Cerebral atrophy, Limb hypertonia, Cardiomyopathy, Cerebellar atrophy, Generalized...	OMIM:617710
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Polyhydramnios, Chylothorax, Lymphedema, Aortic valve stenosis, Failure to thrive, Bicuspid aorti...	OMIM:613563
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Intraalveolar phos...	ORPHA:217563
Heart Block, Congenital	Absent atrioventricular node, Cardiomyopathy, Atrial arrhythmia, Myocardial fibrosis, Atrioventri...	OMIM:234700
16Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Dilated cardiomyopathy, Ventricular septal defect, Mitral regurgitation	ORPHA:261250
Yao Syndrome	Pleuritis, Ventricular hypertrophy, Pericarditis, Weight loss, Xerostomia	OMIM:617321
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic atrophy, Muscular dystrophy, Skeletal muscle hypertrophy, Optic nerve hypoplasia, Calf musc...	ORPHA:370959
Sarcoidosis	Pneumothorax, Heart block, Emphysema, Chylothorax, Abnormal cardiac ventricular function, Facial ...	ORPHA:797
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Flexion contracture, Weight loss	ORPHA:1979
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Hypertension, Pulmonary arterial hypertension, Cardiomegaly, Tachypnea, Small for gestational age	OMIM:613320
Joubert Syndrome 3	Highly arched eyebrow, Ataxia, Central apnea, Episodic tachypnea	OMIM:608629
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paralysis, Skeletal muscle atrophy, Limb muscle weakness	OMIM:612300
Sarcoidosis, Susceptibility To, 1	Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Elevated bronchoalveolar...	OMIM:181000
Infection-Related Hemolytic Uremic Syndrome	Myocarditis, Hyperkalemia, Pneumonia, Pleuritis, Hypocalcemia, Pleural empyema, Hypertension, Hyp...	ORPHA:544482
Mitochondrial Trifunctional Protein Deficiency	Congestive heart failure, Hypocalcemia, Cardiomyopathy, Tricuspid regurgitation, Skeletal myopath...	ORPHA:746
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Global brain atrophy, Amyotrophic lateral sclerosis	OMIM:619132
Sting-Associated Vasculopathy, Infantile-Onset	Elevated circulating C-reactive protein concentration, Myositis, Tachypnea, Failure to thrive, Sk...	OMIM:615934
Presynaptic Congenital Myasthenic Syndromes	Distal lower limb muscle weakness, Sudden episodic apnea, Frontalis muscle weakness, Distal amyot...	ORPHA:98914
Congenital Myasthenic Syndrome	Distal lower limb muscle weakness, Sudden episodic apnea, Frontalis muscle weakness, Distal amyot...	ORPHA:590
Sweet Syndrome	Myositis, Dilated cardiomyopathy, Small vessel vasculitis, Elevated circulating C-reactive protei...	ORPHA:3243
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Elevated circulating creatine kinase concentration, Hypotension, Rhabdomyolysis, Ta...	OMIM:145600
Hyperglycinemia, Lactic Acidosis, And Seizures	Cerebral atrophy, Joint contracture, Apnea	OMIM:614462
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Elevated circulating creatine kinase concentration, Increased variability in muscle fiber diamete...	OMIM:151800
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Optic atrophy, Cardiomyopathy, Cerebellar atrophy, Pericardial effusion, Skeletal muscle atrophy	OMIM:620089
Metachromatic Leukodystrophy, Late Infantile Form	Optic atrophy, Decreased nerve conduction velocity, Gait ataxia, Abnormality of visual evoked pot...	ORPHA:309256
Neurodegeneration With Brain Iron Accumulation 5	Bradykinesia, Cerebral atrophy, Tremor, Cerebellar atrophy, Abnormal autonomic nervous system phy...	OMIM:300894
Chronic Pneumonitis Of Infancy	Intercostal retractions, Respiratory distress, Failure to thrive, Tachypnea, Hyperventilation	ORPHA:91359
Smith-Magenis Syndrome	Abnormal nerve conduction velocity, Impaired pain sensation, Increased body weight, Pain insensit...	OMIM:182290
Non-Functioning Paraganglioma	Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Crani...	ORPHA:94080
Undifferentiated Pleomorphic Sarcoma	Fatigue, Weight loss	ORPHA:2023
Hyperekplexia 3	Apnea, Exaggerated startle response	OMIM:614618
Laryngotracheoesophageal Cleft Type 4	Cachexia, Abnormal lower motor neuron morphology	ORPHA:93941
Cronkhite-Canada Syndrome	Cachexia, Fatigue, Abdominal pain	ORPHA:2930
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Spastic tetraparesis, Cerebral palsy, Paraparesis, Failure to thrive, Spastic ataxia	OMIM:620358
Cryptococcosis	Respiratory distress, Abnormal cranial nerve morphology, Pleural effusion, Limb muscle weakness, ...	ORPHA:1546
Diaphanospondylodysostosis	Enlarged kidney, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidney, Cystic renal dysplasia	OMIM:608022
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue	ORPHA:663
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Abnormal pattern of respiration, Apnea, Exaggerated startle response	OMIM:608800
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Tachypnea, Decreased body weight	OMIM:620085
Cardiomyopathy, Familial Hypertrophic, 2	Ventricular septal hypertrophy, Reduced left ventricular ejection fraction, Angina pectoris, Atri...	OMIM:115195
Variegate Porphyria	Paralysis	OMIM:176200
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Limb hypertonia, Cerebellar atrophy, Gait ataxia, Apnea, Ataxia, Opisthotonus, Choreoathetosis	OMIM:619580
Short Stature, Microcephaly, And Endocrine Dysfunction	Abnormal circulating lipid concentration, Cerebellar vermis atrophy, Dilated cardiomyopathy, Trun...	OMIM:616541
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Cerebral atrophy, Global brain atrophy, Atrophy/Degeneration affecting the brainstem, Cerebellar ...	OMIM:615838
Hypokalemic Periodic Paralysis, Type 1	Periodic paralysis, Myopathy	OMIM:170400
Encephalitis Lethargica	Upper limb muscle weakness, Bradycardia	ORPHA:83600
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Failure to thrive, Apnea, Opisthotonus	OMIM:210200
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Muscular dystrophy, Increased endomysial connective tissue, Flexion contracture	OMIM:607855
Kikuchi-Fujimoto Disease	Myocarditis, Palpebral edema, Abnormal pulmonary interstitial morphology, Elevated circulating C-...	ORPHA:50918
Tempi Syndrome	Abnormality of the pulmonary vasculature, Transudative pleural effusion, Ascites, Intracranial he...	ORPHA:284227
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Orthostatic hypotension, Hypertension, Pleural effusion, Pulmonary arterial...	OMIM:606721
S-Adenosylhomocysteine Hydrolase Deficiency	Muscular dystrophy, Hydrops fetalis, Abnormal circulating homocysteine concentration, Abnormal ci...	ORPHA:88618
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Distal lower limb muscle weakness, Decreased compound muscle action potential amplitude, Scapular...	OMIM:620080
Sick Sinus Syndrome 1	Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove...	OMIM:608567
Crimean-Congo Hemorrhagic Fever	Hematemesis, Bradycardia, Hypertension, Ascites, Epistaxis, Diffuse alveolar hemorrhage, Myocardi...	ORPHA:99827
Joubert Syndrome With Renal Defect	Aganglionic megacolon, Highly arched eyebrow, Tremor, Apnea, Ataxia, Abnormal pattern of respiration	ORPHA:220497
Gillessen-Kaesbach-Nishimura Syndrome	Abnormal lung lobation, Congenital diaphragmatic hernia, Polyhydramnios, Abnormal heart morpholog...	OMIM:263210
Severe Generalized Junctional Epidermolysis Bullosa	Pneumothorax, Abnormal blood ion concentration, Pneumonia, Renal tubular epithelial necrosis, Bra...	ORPHA:79404
Atrial Fibrillation, Familial, 11	Atrial fibrillation, Prolonged QRS complex, Reduced left ventricular ejection fraction, Prolonged...	OMIM:614049
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Cerebral atrophy, Cardiomyopathy, Elevated circulating creatine kinase concentration, Hyperalanin...	ORPHA:324525
Fructose-1,6-Bisphosphatase Deficiency	Apnea, Dyspnea, Hyperventilation	OMIM:229700
Tonne-Kalscheuer Syndrome	Congenital diaphragmatic hernia, Abnormal heart morphology, Pulmonary hypoplasia	OMIM:300978
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Abnormal pulmonary interstitial morphology, Elevated circulating C-reactive protein concentration...	OMIM:616414
Ring Chromosome 10 Syndrome	Cachexia, Aganglionic megacolon	ORPHA:1438
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Cerebellar atrophy, Decreased nerve conduction velocity, Ataxia	OMIM:610651
Congenital Disorder Of Glycosylation, Type Ij	Apnea, Tremor, Flexion contracture	OMIM:608093
Sinus Node Disease And Myopia	Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin	OMIM:182190
Lethal Ataxia With Deafness And Optic Atrophy	Optic atrophy, EEG with focal epileptiform discharges, Ataxia, Decreased motor nerve conduction v...	ORPHA:1187
Joubert Syndrome With Oculorenal Defect	Aganglionic megacolon, Highly arched eyebrow, Apnea, Ataxia, Tachypnea	ORPHA:2318
Developmental And Epileptic Encephalopathy 82	Spastic tetraplegia, Spastic paraparesis, Cerebral atrophy, Decreased body weight	OMIM:618721
Rheumatoid Arthritis	Elevated circulating C-reactive protein concentration, Vasculitis, Digital flexor tenosynovitis, ...	OMIM:180300
Cholestasis, Progressive Familial Intrahepatic, 5	Pleural effusion, Ascites, Hyperammonemia, Failure to thrive, Nonimmune hydrops fetalis, Conjugat...	OMIM:617049
Lethal Congenital Contracture Syndrome 10	Hydrops fetalis, Torticollis, Ventricular septal defect, Increased variability in muscle fiber di...	OMIM:617022
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Abnormal muscle fiber protein expression	ORPHA:330054
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Hepatomegaly, Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephritis,...	OMIM:617303
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Polyhydramnios, Recurrent respiratory infections, Chylothorax, Lymphedema, Pleur...	OMIM:265300
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Ascites, Weight loss	ORPHA:2198
Long Qt Syndrome 5	Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,...	OMIM:613695
Short Qt Syndrome 2	Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde...	OMIM:609621
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Cachexia	ORPHA:2774
Coccidioidomycosis	Respiratory distress, Vasculitis, Pleural empyema, Cerebral ischemia, Pericarditis, Vasospasm, Ex...	ORPHA:228123
Congenital Heart Defects, Multiple Types, 9	Transposition of the great arteries, Single ventricle of indeterminate morphology, Truncus arteri...	OMIM:620294
Long Qt Syndrome 8	Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card...	OMIM:618447
Renal-Hepatic-Pancreatic Dysplasia 2	Enlarged kidney, Hepatomegaly, Cystic renal dysplasia	OMIM:615415
Analbuminemia	Hypercholesterolemia, Recurrent lower respiratory tract infections, Increased LDL cholesterol con...	OMIM:616000
Alstrom Syndrome	Hypertriglyceridemia, Congestive heart failure, Decreased HDL cholesterol concentration, Hyperuri...	OMIM:203800
Surfactant Metabolism Dysfunction, Pulmonary, 3	Exertional dyspnea, Respiratory distress, Dyspnea, Failure to thrive, Apnea, Neonatal death, Tach...	OMIM:610921
Angioedema, Hereditary, 1	Axonal degeneration, Peripheral axonal neuropathy, Abdominal pain, Hypoesthesia	OMIM:106100
Ring Chromosome 22 Syndrome	Edema, Lymphedema, Pleural effusion, Azoospermia	ORPHA:1446
Hyperkalemic Periodic Paralysis	Hypertonia, Periodic hyperkalemic paralysis, Skeletal muscle hypertrophy, Fasciculations, Cerebra...	ORPHA:682
Pneumocystosis	Acute infectious pneumonia, Pleural effusion, Weight loss, Multiple pulmonary cysts, Interstitial...	ORPHA:723
Rhizomelic Chondrodysplasia Punctata, Type 5	Sinus tachycardia, Recurrent respiratory infections, Contractures of the large joints, Skeletal m...	OMIM:616716
Acute Lung Injury	Pneumonia, Abnormal pulmonary interstitial morphology, Elevated circulating C-reactive protein co...	ORPHA:178320
Mucolipidosis Type Ii	Pulmonary insufficiency, Abnormal aortic valve morphology, Aortic regurgitation, Patent foramen o...	ORPHA:576
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Hydronephrosis, Urethral atresia	OMIM:314390
Serotonin Syndrome	Hypertension, Hypotension, Abnormality of the autonomic nervous system, Rhabdomyolysis, Tachycard...	ORPHA:43116
Greig Cephalopolysyndactyly Syndrome	Abnormal muscle fiber morphology, Camptodactyly of toe, Abnormal heart morphology, Atrial septal ...	OMIM:175700
Multicentric Carpotarsal Osteolysis Syndrome	Congenital diaphragmatic hernia, Hypertension	OMIM:166300
Long Qt Syndrome 2	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril...	OMIM:613688
Familial Cervical Artery Dissection	Paralysis, Facial palsy	ORPHA:36382
Tenorio Syndrome	Cerebral cortical atrophy, Apnea, Thick eyebrow, Macroglossia, Hypertrichosis	OMIM:616260
Fryns Syndrome	Large for gestational age, Polyhydramnios, Aganglionic megacolon, Chylothorax, Aplasia of the lef...	OMIM:229850
Hereditary Motor And Sensory Neuropathy, Type Iic	Proximal upper limb amyotrophy, Decreased distal sensory nerve action potential, Proximal muscle ...	OMIM:606071
Hypophosphatasia, Infantile	Stillbirth, Apnea, Failure to thrive	OMIM:241500
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Bradycardia, Hyperhomocystinemia, Cardiac arrest, Hypotension, Pulmonary ...	OMIM:277400
Long Qt Syndrome 14	2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card...	OMIM:616247
Peroxisome Biogenesis Disorder 2A (Zellweger)	Optic nerve dysplasia, Camptodactyly, Failure to thrive, Apnea, Joint contracture of the hand	OMIM:214110
Citrullinemia Type I	Failure to thrive, Tachypnea, Ataxia, Torticollis	ORPHA:247525
Primary Myelofibrosis	Constitutional symptom, Cachexia, Flank pain, Fatigue	ORPHA:824
Joubert Syndrome With Ocular Defect	Aganglionic megacolon, Highly arched eyebrow, Tremor, Apnea, Ataxia, Abnormal pattern of respiration	ORPHA:220493
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death	OMIM:600919
Warburg Micro Syndrome 4	Optic atrophy, Cerebellar atrophy, Cerebral cortical atrophy, Decreased muscle mass, Flexion cont...	OMIM:615663
Focal Myositis	Myositis, Myalgia, Weight loss	ORPHA:48918
American Trypanosomiasis	Myocarditis, Congestive heart failure, Aganglionic megacolon, Cardiomyopathy, Arrhythmia, Periorb...	ORPHA:3386
Giant Cell Arteritis	Optic atrophy, Recurrent pharyngitis, Vasculitis, Cerebral ischemia, Double outlet right ventricl...	ORPHA:397
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Optic atrophy, Apnea, Cerebral atrophy	OMIM:261680
Holocarboxylase Synthetase Deficiency	Respiratory distress, Ataxia, Weight loss, Tachypnea, Alopecia	ORPHA:79242
Silver-Russell Syndrome	Cachexia, Obesity, Decreased muscle mass, Arthralgia, Failure to thrive in infancy	ORPHA:813
Neutral Lipid Storage Myopathy	Hypertriglyceridemia, Congestive heart failure, Generalized limb muscle atrophy, Abnormal circula...	ORPHA:98908
Recurrent Respiratory Papillomatosis	Atelectasis, Respiratory distress, Abnormal lung morphology, Failure to thrive, Recurrent pneumon...	ORPHA:60032
Choreoacanthocytosis	Frontal cortical atrophy, Distal amyotrophy, Abnormal autonomic nervous system physiology, Elevat...	ORPHA:2388
Meige Disease	Edema of the dorsum of hands, Predominantly lower limb lymphedema, Lymphedema, Pleural effusion, ...	ORPHA:90186
Coenzyme Q10 Deficiency, Primary, 1	Decreased level of coenzyme Q10 in skeletal muscle, Ragged-red muscle fibers, Cerebellar atrophy,...	OMIM:607426
Metachromatic Leukodystrophy, Juvenile Form	Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Prog...	ORPHA:309263
Denys-Drash Syndrome	Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial sclero...	OMIM:194080
Oligomeganephronia	Congenital diaphragmatic hernia, Hypertension, Dehydration, Pulmonary venous occlusion, Secundum ...	ORPHA:2260
Desmoplastic Small Round Cell Tumor	Cachexia, Weight loss, Abdominal pain	ORPHA:83469
Refsum Disease	Heart block, Cardiomyopathy, Skeletal muscle atrophy	ORPHA:773
Noonan Syndrome	Patent ductus arteriosus, Aplasia/Hypoplasia of the abdominal wall musculature, Lymphedema, Hyper...	ORPHA:648
Hec Syndrome	Endocardial fibroelastosis, Polyhydramnios, Cardiomyopathy, Arrhythmia	ORPHA:2119
Double Outlet Left Ventricle	Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv...	ORPHA:3427
Gaucher Disease, Perinatal Lethal	Respiratory distress, Decreased body weight, Apnea, Neonatal death, Opisthotonus, Arthrogryposis ...	OMIM:608013
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P...	OMIM:614021
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes	OMIM:220400
Primary Lateral Sclerosis, Adult, 1	Abnormal upper motor neuron morphology	OMIM:611637
Legionnaires Disease	Myocarditis, Recurrent pharyngitis, Hypotension, Abnormal lung morphology, Pericarditis, Hyponatr...	ORPHA:549
Liposarcoma	Abdominal pain, Fatigue, Weight loss, Paresthesia	ORPHA:69078
Marburg Hemorrhagic Fever	Hypokalemia, Bradycardia, Capillary leak, Hyperamylasemia, Dehydration, Hypotension, Hypovolemia,...	ORPHA:99826
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Enlarged kidney, Macroscopic hematuria, Proteinuria	ORPHA:251004
Prune1-Related Neurological Syndrome	Optic atrophy, Cerebral atrophy, Tongue fasciculations, Spastic tetraparesis, Cerebellar atrophy,...	ORPHA:544469
Mucopolysaccharidosis Type 3	Optic atrophy, Abnormal aortic valve morphology, Cardiomegaly, Reduced left ventricular ejection ...	ORPHA:581
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Abdominal pain, Paresthesia	OMIM:175500
Myotonia Fluctuans	Apnea, Spasticity of facial muscles	ORPHA:99734
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Optic atrophy, Cachexia, Spasticity, Ataxia	ORPHA:220295
Arthrogryposis Multiplex Congenita 6	Increased variability in muscle fiber diameter, Polyhydramnios, Nemaline bodies, Arthrogryposis m...	OMIM:619334
Hennekam Syndrome	Hydrops fetalis, Chylothorax, Hypocalcemia, Lymphedema, Ascites, Pericardial effusion, Camptodact...	ORPHA:2136
Neuroendocrine Tumor Of Stomach	Hematemesis, Melena, Hypotension, Tricuspid regurgitation, Facial telangiectasia, Right ventricul...	ORPHA:100075
Classic Hodgkin Lymphoma	Bone pain, Fatigue, Ataxia, Weight loss, Chest pain	ORPHA:391
Autosomal Recessive Spastic Paraplegia Type 20	Spastic gait, Babinski sign, Spastic dysarthria, Spasticity, Distal amyotrophy, Upper limb muscle...	ORPHA:101000
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Optic atrophy, Elevated circulating C-reactive protein concentration, Vasculitis, Hypertension, P...	OMIM:615688
Emanuel Syndrome	Congenital diaphragmatic hernia, Atrial septal defect, Cerebral atrophy, Truncus arteriosus, Vent...	ORPHA:96170
Autosomal Recessive Spastic Paraplegia Type 77	Paroxysmal dystonia, Sudden episodic apnea, Lower limb amyotrophy, Intention tremor, Dystonia	ORPHA:466722
Gaucher Disease, Type Iii	Spastic paraparesis, Decreased body weight, Ataxia, Myoclonus	OMIM:231000
Hurler-Scheie Syndrome	Abnormal nerve conduction velocity	ORPHA:93476
Metachromatic Leukodystrophy, Adult Form	Optic atrophy, Decreased nerve conduction velocity, Chorea, Abnormality of visual evoked potentia...	ORPHA:309271
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Cerebral atrophy, Global brain atrophy, Respiratory distress, Cerebellar atrophy, Failure to thri...	OMIM:618426
Central Hypoventilation Syndrome, Congenital, 1	Hypoventilation, Nocturnal hypoventilation, Aganglionic megacolon, Abnormal autonomic nervous sys...	OMIM:209880
Combined Oxidative Phosphorylation Deficiency 24	Optic atrophy, Ragged-red muscle fibers, Neuronal loss in central nervous system, Gliosis, Cerebe...	OMIM:616239
Foix-Alajouanine Syndrome	Distal lower limb muscle weakness, Urinary incontinence, Dysesthesia, Lower limb muscle weakness,...	ORPHA:79093
Paget Disease Of Bone 2, Early-Onset	Bone pain, Tetraparesis, Paraparesis	OMIM:602080
Cerebral Cavernous Malformations 3	Paralysis	OMIM:603285
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Optic atrophy, Congestive heart failure, Cardiomyopathy, Cerebellar atrophy, Limb muscle weakness...	OMIM:619259
Ohdo Syndrome, Sbbys Variant	Dilated cardiomyopathy	OMIM:603736
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Apneic episodes in infancy, Episodic tachypnea	ORPHA:163961
Fusariosis	Lung abscess, Hypersensitivity pneumonitis, Myositis, Pleural effusion, Bronchiectasis, Pneumonia	ORPHA:228119
Microphthalmia, Syndromic 9	Congenital diaphragmatic hernia, Bilateral lung agenesis, Hypoplastic left atrium, Truncus arteri...	OMIM:601186
Glycogen Storage Disease Ia	Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithiasis, Focal segme...	OMIM:232200
Alveolar Echinococcosis	Abnormality of the diaphragm, Abnormal skeletal muscle morphology, Budd-Chiari syndrome, Portal h...	ORPHA:284
Hermansky-Pudlak Syndrome 10	Albinism, Apnea, Dystonia, Cerebral atrophy	OMIM:617050
Pulmonary Alveolar Microlithiasis	Pneumothorax, Peripheral edema, Pleural thickening, Bronchitis, Mitral valve calcification, Incre...	ORPHA:60025
Methionine Malabsorption Syndrome	Tachypnea, White hair	OMIM:250900
Tetrasomy 12P	Cachexia	ORPHA:884
Generalized Pseudohypoaldosteronism Type 1	Hyperkalemia, Dehydration, Hypovolemic shock, Increased circulating renin level, Hyponatremia, Re...	ORPHA:171876
Mitochondrial Complex I Deficiency, Nuclear Type 1	Ragged-red muscle fibers, Cerebellar atrophy, Optic neuropathy, Failure to thrive, Apnea, Ataxia,...	OMIM:252010
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
Congenital Fiber-Type Disproportion Myopathy	Ankle flexion contracture, Polyhydramnios, Weakness of facial musculature, Hypoplasia of the musc...	ORPHA:2020
Early-Onset Autosomal Dominant Alzheimer Disease	Hypertonia, Deposits immunoreactive to beta-amyloid protein, Oculomotor apraxia, Apraxia, Ataxia,...	ORPHA:1020
Lethal Congenital Contracture Syndrome 1	Hypoplasia of the musculature, Neonatal death, Skeletal muscle atrophy, Paucity of anterior horn ...	OMIM:253310
Epidermolysis Bullosa With Diaphragmatic Hernia	Congenital diaphragmatic hernia	OMIM:226735
Cystic Echinococcosis	Abnormality of the diaphragm, Hyperbilirubinemia, Abnormal subpleural morphology, Abnormal heart ...	ORPHA:400
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Abnormal peripheral myelination, Abnormality of peripheral nerve conduction, Skeletal muscle atro...	ORPHA:168563
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Increased muscle glycogen content, Progressive cerebellar ataxia, Thick hair, Dysdiadochokinesis,...	ORPHA:502423
D-2-Hydroxyglutaric Aciduria 1	Apnea	OMIM:600721
15Q24 Microdeletion Syndrome	Congenital diaphragmatic hernia, Failure to thrive, Obesity, Abnormal heart morphology, Small for...	ORPHA:94065
Alg9-Cdg	Abnormal lung lobation, Atrial septal defect, Cerebral atrophy, Hydrops fetalis, Torticollis, Abn...	ORPHA:79328
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atrial septal defect, Atelectasis, Respiratory distress, Elevated bronchoalveolar lavage fluid ly...	OMIM:610978
Gm2-Gangliosidosis, Ab Variant	Hypertonia, Chorea, Spastic tetraparesis, Exaggerated startle response, Dystonia, Abnormal pyrami...	OMIM:272750
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Optic atrophy, Chylothorax, Lymphedema, Pleural effusion, Edema, Atrial septal defect	ORPHA:2526
Pagod Syndrome	Optic atrophy, Congenital diaphragmatic hernia, Situs inversus totalis, Pulmonary artery hypoplas...	ORPHA:991
Ileal Neuroendocrine Tumor	Hypotension, Tricuspid stenosis, Pulmonic stenosis, Right ventricular failure, Cardiogenic shock,...	ORPHA:100078
Proximal 16P11.2 Microdeletion Syndrome	Congenital diaphragmatic hernia, Syringomyelia, Abnormal aortic valve morphology, Dextrocardia, F...	ORPHA:261197
Charcot-Marie-Tooth Disease Type 4B2	Tip-toe gait, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Difficu...	ORPHA:99956
Colchicine Poisoning	Myocarditis, Congestive heart failure, Hypokalemia, Respiratory distress, Hypocalcemia, Dehydrati...	ORPHA:31824
Chediak-Higashi Syndrome	Decreased nerve conduction velocity, Ataxia, Foot dorsiflexor weakness, Neurodegeneration	OMIM:214500
Lyme Disease	Joint swelling, Atrioventricular block, Arrhythmia	ORPHA:91546
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Optic atrophy, Atrial septal defect, Congestive heart failure, Respiratory distress, Brain atroph...	ORPHA:505248
Peroxisome Biogenesis Disorder 4B	Optic atrophy, Decreased nerve conduction velocity, Ataxia	OMIM:614863
Carnitine Palmitoyltransferase Ii Deficiency	Renal tubular epithelial necrosis, Cardiomyopathy, Hyperlipidemia, Elevated circulating creatine ...	ORPHA:157
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Hypokalemia, Hypertension, Epistaxis, Intracranial hemorrhage, Left ventri...	ORPHA:251274
Pituitary Adenoma 1, Multiple Types	Hypertension, Cardiomyopathy, Left ventricular hypertrophy	OMIM:102200
Intellectual Developmental Disorder, Autosomal Dominant 54	Cerebellar atrophy, Apnea, Ataxia, Sparse hair, Small for gestational age, Hyperventilation	OMIM:617799
Cockayne Syndrome	Optic atrophy, Cerebral atrophy, Hypertonia, Decreased nerve conduction velocity, Urinary inconti...	ORPHA:191
Combined Oxidative Phosphorylation Deficiency 19	Increased variability in muscle fiber diameter, Mitochondrial swelling, Failure to thrive, Respir...	OMIM:615595
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hepatomegaly, Polycystic kidney dysplasia, Ureteral atresia, Splenomegaly, Renal...	OMIM:208540
Hypoadrenocorticism, Familial	Apnea	OMIM:240200
Simple Cryoglobulinemia	Congestive heart failure, Gastrointestinal hemorrhage, Vasculitis, Hypertension, Abnormal lung mo...	ORPHA:91139
Meacham Syndrome	Abnormal lung lobation, Congenital diaphragmatic hernia, Situs inversus totalis, Transposition of...	ORPHA:3097
Auriculocondylar Syndrome 1	Apnea	OMIM:602483
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Periodic paralysis, Hand tremor	OMIM:609153
Felty Syndrome	Recurrent pharyngitis, Pleuritis, Pericarditis, Recurrent pneumonia, Weight loss, Pulmonary fibro...	ORPHA:47612
Atrial Septal Defect 1	Atrial septal dilatation, Aortic valve stenosis, Tetralogy of Fallot with pulmonary atresia, Secu...	OMIM:108800
Camurati-Engelmann Disease	Optic atrophy, Optic nerve compression, Bone pain, Cachexia, Facial palsy, Slender build, Ataxia,...	ORPHA:1328
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Paraplegia, Failure to thrive in infancy, Hemiparesis, Paraparesis	ORPHA:79124
Combined Oxidative Phosphorylation Deficiency 59	Failure to thrive, Apnea	OMIM:620646
Bickerstaff Brainstem Encephalitis	Impaired proprioception, Abnormal cranial nerve morphology, Dysesthesia, Facial palsy, Sensory at...	ORPHA:79138
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Cardiomyopathy, Eleva...	ORPHA:363623
Adult-Onset Still Disease	Myocarditis, Abnormal circulating lipid concentration, Elevated circulating C-reactive protein co...	ORPHA:829
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Minicore myopathy, Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Fl...	ORPHA:178148
Ovarian Fibroma	Pleural effusion, Ascites	ORPHA:314473
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithiasis, Focal segme...	OMIM:232220
Allergic Bronchopulmonary Aspergillosis	Emphysema, Pulmonary arterial hypertension, Cerebral cortical atrophy, Weight loss, Bronchiectasis	ORPHA:1164
Noonan Syndrome 1	Chylothorax, Lymphedema, Hypertrophic cardiomyopathy, Pulmonic stenosis, Patent ductus arteriosus...	OMIM:163950
Myopathy, Mitochondrial, And Ataxia	Limb ataxia, Difficulty walking, Inability to walk, Truncal ataxia, Distal amyotrophy, Tremor, Dy...	OMIM:617675
Aicardi-Goutieres Syndrome 7	Hematemesis, Cerebral atrophy, Pneumonia, Recurrent lower respiratory tract infections, Limb hype...	OMIM:615846
Familial Cutaneous Collagenoma	Angina pectoris, Congestive heart failure, Atrial septal defect, Cardiomyopathy	ORPHA:53296
Mucopolysaccharidosis Type 1	Optic atrophy, Abnormal tendon morphology, Apnea, Generalized hirsutism, Low anterior hairline, P...	ORPHA:579
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Cardiac arrest, Angioedema, Weight loss, Interstitial pneumonitis	ORPHA:139402
Seckel Syndrome 9	Congenital diaphragmatic hernia, Polyhydramnios, Recurrent respiratory infections, Pulmonary arte...	OMIM:616777
Coasy Protein-Associated Neurodegeneration	Peripheral axonal neuropathy, Spastic paraparesis, Parkinsonism	ORPHA:397725
Pyruvate Dehydrogenase Deficiency	Tremor, Dyspnea, Dystonia, Ataxia, Tachypnea, Choreoathetosis	ORPHA:765
Coffin-Siris Syndrome 3	Macroglossia, Abnormal heart morphology, Central diaphragmatic hernia	OMIM:614608
Familial Glucocorticoid Deficiency	Hyperkalemia, Azoospermia, Hypotension, Hypertrophic cardiomyopathy, Hyponatremia, Failure to thr...	ORPHA:361
Coach Syndrome 2	Apneic episodes in infancy	OMIM:619111
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Dyspnea, Intermittent hyperventilation, Apneic episodes in infancy, Episodi...	ORPHA:348
Leopard Syndrome 1	Spina bifida occulta, Scapular winging, Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral va...	OMIM:151100
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Large for gestational age, Apnea	ORPHA:79644
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Congenital diaphragmatic hernia, Pulmonary hypoplasia	ORPHA:2141
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Cardiomyopathy, Failure to thrive, Flexion contracture, Weakness of facial musculature, Myopathy	OMIM:201470
Donnai-Barrow Syndrome	Congenital diaphragmatic hernia, Ventricular septal defect	ORPHA:2143
Cerebellar-Facial-Dental Syndrome	Foot joint contracture, Limb hypertonia, Failure to thrive, Mitral valve prolapse, Ventricular se...	ORPHA:444072
Aromatic L-Amino Acid Decarboxylase Deficiency	Failure to thrive, Joint contracture, Hypotension, Limb hypertonia	ORPHA:35708
Eisenmenger Syndrome	Aortopulmonary window, Ascites, Left-to-right shunt, Abnormal heart morphology, Heart murmur, Rig...	ORPHA:97214
Genitopatellar Syndrome	Sparse scalp hair, Hip contracture, Apnea, Knee flexion contracture, Fine hair, Arthrogryposis mu...	ORPHA:85201
Jansen-De Vries Syndrome	Bicuspid aortic valve, Ventricular septal defect, Central diaphragmatic hernia	OMIM:617450
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance, Neurogenic bladder	OMIM:619173
Isolated Permanent Neonatal Diabetes Mellitus	Lower-limb joint contracture, Dehydration, Hypovolemia, Failure to thrive, Abnormal heart morphol...	ORPHA:99885
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Apnea	ORPHA:1129
Joubert Syndrome With Hepatic Defect	Highly arched eyebrow, Tremor, Apnea, Ataxia, Optic disc coloboma, Abnormal pattern of respiration	ORPHA:1454
Ovarian Fibrothecoma	Pleural effusion, Ascites	ORPHA:314478
Dermatomyositis	Inflammatory myopathy, Sinus tachycardia, Limb-girdle muscle weakness, Pericarditis, Edema, Myoca...	ORPHA:221
Glycogen Storage Disease Vii	Increased muscle glycogen content, Hyperuricemia, Elevated circulating creatine kinase concentrat...	OMIM:232800
Orofaciodigital Syndrome Type 6	Highly arched eyebrow, Tremor, Failure to thrive, Apnea, Ataxia, Episodic tachypnea	ORPHA:2754
Oculodentodigital Dysplasia	Joint contracture of the 5th finger, Spasticity, Paraparesis, Ataxia, Tetraparesis	OMIM:164200
Agel Amyloidosis	Facial palsy, Cardiomyopathy, Arrhythmia, Respiratory tract infection, Orthostatic hypotension du...	ORPHA:85448
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Respiratory distress, Abnormal myocardium morphology, Abnormal pleur...	ORPHA:537
X-Linked Intellectual Disability, Cabezas Type	Camptodactyly of finger, Cachexia, Obesity, Tremor	ORPHA:85293
Intestinal Dysmotility Syndrome	Failure to thrive, Polyhydramnios, Weight loss	OMIM:620045
Waardenburg Syndrome, Type 4A	Spastic paraparesis, Aganglionic megacolon, Ataxia	OMIM:277580
Orofaciodigital Syndrome Xvi	Apnea, Ataxia	OMIM:617563
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cerebellar hemorrhage, Methylmalonic acidemia, Respiratory distress, Cardiomyopathy, Dehydration,...	OMIM:251000
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Fatigue, Weight loss	ORPHA:86893
Neuroblastoma, Susceptibility To, 1	Bone pain, Abdominal pain, Failure to thrive, Ataxia, Weight loss, Myoclonus, Ganglioneuroma, Hor...	OMIM:256700
1P36 Deletion Syndrome	Optic atrophy, Abnormal cardiac septum morphology, Abnormal heart valve morphology, Cerebral cort...	ORPHA:1606
Anaplastic Thyroid Carcinoma	Abnormal skeletal muscle morphology, Neoplasm of the lung, Weight loss, Respiratory distress	ORPHA:142
3-Methylglutaconic Aciduria, Type Viii	Cerebral atrophy, Tremor, Failure to thrive, Apnea, Dystonia, Neonatal death, Hypopnea	OMIM:617248
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Flexion contracture, Weight loss, Abnormal circulating creatine conc...	ORPHA:440437
Friedreich Ataxia 2	Congestive heart failure, Concentric hypertrophic cardiomyopathy, Muscular subvalvular aortic ste...	OMIM:601992
Congenital Fibrinogen Deficiency	Tachycardia, Internal hemorrhage, Right ventricular hypertrophy, Left ventricular hypertrophy	ORPHA:335
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Abnormal myocardium morphology, Abnormal pleura morphology, Weight l...	ORPHA:36426
Developmental And Epileptic Encephalopathy 111	Hypertension, Sinus tachycardia, Premature ventricular contraction, Pulmonary artery stenosis, Re...	OMIM:620504
Glass Syndrome	Facial hypotonia, Camptodactyly, Long eyelashes, Apnea, Sparse hair	OMIM:612313
Long Qt Syndrome 6	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c...	OMIM:613693
Intellectual Disability-Strabismus Syndrome	Congenital diaphragmatic hernia, Polyhydramnios, Brain atrophy, Congenital finger flexion contrac...	ORPHA:363528
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Mesocardia, Dextrocardia, Patent ductus arteriosus, Scimitar ano...	OMIM:618280
D-Bifunctional Protein Deficiency	Decreased nerve conduction velocity, Cerebellar atrophy, Corpus callosum atrophy, Failure to thri...	OMIM:261515
Schwartz-Jampel Syndrome	Hypertonia, Flexion contracture of toe, Shoulder flexion contracture, Cachexia, Skeletal muscle h...	ORPHA:800
Fatty Acid Hydroxylase-Associated Neurodegeneration	Optic atrophy, Progressive spastic paraparesis, Cerebellar vermis atrophy, Atrophy of the spinal ...	ORPHA:329308
Brugada Syndrome 9	Presyncope, ST segment elevation, Prolonged QT interval, Palpitations	OMIM:616399
Perry Syndrome	Tremor, Central hypoventilation, Weight loss	ORPHA:178509
Cockayne Syndrome B	Optic atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Severe failure to thrive, A...	OMIM:133540
Aredyld Syndrome	Cachexia	ORPHA:1133
Long Qt Syndrome 3	Torsade de pointes, Hydrops fetalis, Prolonged QTc interval, Ventricular flutter, Ventricular fib...	OMIM:603830
Arterial Tortuosity Syndrome	Congenital diaphragmatic hernia, Ischemic stroke, Aortic regurgitation, Hypertension, Ventricular...	OMIM:208050
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hepatomegaly, Glomerular sclerosis, ...	OMIM:276700
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Weight loss	ORPHA:411593
Igg4-Related Kidney Disease	Urethritis, Acute kidney injury, Enlarged kidney, Renal interstitial immunoglobulin deposits, Hem...	ORPHA:449395
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Bradycardia, Optic nerve hypoplasia, Facial edema, Overweight, Macroglossia	ORPHA:226307
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Flexion contracture of digit, Decreased muscle mass, Spastic paraparesis, Hand tremor, Truncal ob...	ORPHA:3041
Neutral Lipid Storage Disease With Ichthyosis	Hypertriglyceridemia, Cardiomyopathy, EMG: myopathic abnormalities, Central nervous system degene...	ORPHA:98907
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Muscle fiber atrophy, Flexion contracture, Clonus	OMIM:620240
Long Qt Syndrome 1	Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy...	OMIM:192500
Xfe Progeroid Syndrome	Optic atrophy, Cachexia, Failure to thrive, Poor coordination	OMIM:610965
Obesity Due To Sim1 Deficiency	Hypotension, Obesity, Abnormal autonomic nervous system physiology, Postural hypotension with com...	ORPHA:369873
Diaphragmatic Hernia 5, X-Linked	Congenital diaphragmatic hernia	OMIM:306950
Exercise-Induced Malignant Hyperthermia	Hyperkalemia, Prolonged QT interval, Hypocalcemia, Sinus tachycardia, Abnormal pulse pressure, Hy...	ORPHA:466650
Wolman Disease	Cachexia	ORPHA:75233
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Dehydration, Hematochezia, Abnormal circulating polys...	ORPHA:103910
Rift Valley Fever	Decerebrate rigidity, Paraparesis, Back pain, Hemiparesis, Ocular pain, Paralysis	ORPHA:319251
Cockayne Syndrome A	Optic atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Abnormal auditory evoked po...	OMIM:216400
Gitelman Syndrome	Prolonged QT interval, Hypokalemia, Hypotension, Increased circulating renin level, Failure to th...	OMIM:263800
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Intraalveolar phospholipid accumulation, Nonspecific interstitial pneumonia...	OMIM:610913
Dopamine Beta-Hydroxylase Deficiency	Orthostatic hypotension, Orthostatic syncope, Dehydration, Increased blood urea nitrogen, Syncope...	ORPHA:230
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Hyperventilation, Chorea, Horizontal eyebrow, Dystonia, Ataxia, Abnormal location of the eyebrow,...	ORPHA:522077
Rhabdoid Tumor	Hypertension, Hypercalcemia, Weight loss, Internal hemorrhage	ORPHA:69077
Hereditary Amyloidosis With Primary Renal Involvement	Congestive heart failure, Gastrointestinal hemorrhage, Decreased HDL cholesterol concentration, D...	ORPHA:85450
Linear Skin Defects With Multiple Congenital Anomalies 1	Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Arrhythmia, Overriding aorta, Atria...	OMIM:309801
Sheehan Syndrome	Orthostatic hypotension, Bradycardia, Hyponatremia, Obesity, Palpitations	ORPHA:91355
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrolithiasis, Neph...	OMIM:130650
Joubert Syndrome 1	Highly arched eyebrow, Optic disc pallor, Ataxia, Optic disc coloboma, Macroglossia, Central apne...	OMIM:213300
Myoglobinuria, Recurrent	Ragged-red muscle fibers	OMIM:550500
Chromosome 1P36 Deletion Syndrome, Distal	Optic atrophy, Abnormal lung lobation, Atrial septal defect, Noncompaction cardiomyopathy, Patent...	OMIM:607872
Amyloidosis, Finnish Type	Orthostatic hypotension, Decreased heart rate variability, Cardiac amyloidosis, Cardiomyopathy, O...	OMIM:105120
Cooper-Jabs Syndrome	Congenital diaphragmatic hernia, Camptodactyly of finger, Ventricular septal defect	ORPHA:1488
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Congenital diaphragmatic hernia, Hypoplasia of right ventricle, Transposition of the great arteri...	ORPHA:2255
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis	OMIM:613091
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular...	OMIM:615441
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Congestive heart failure, Elbow flexion contracture, EMG: myopathic abnormalities, Limb muscle we...	ORPHA:1900
Pfapa Syndrome	Abdominal pain, Arthralgia, Fatigue, Weight loss	ORPHA:42642
19Q13.11 Microdeletion Syndrome	Cachexia, Failure to thrive	ORPHA:217346
Trisomy 1Q	Congenital diaphragmatic hernia, Polyhydramnios, Hydrops fetalis, Increased nuchal translucency, ...	ORPHA:261344
Brown-Vialetto-Van Laere Syndrome 1	Gait imbalance, Tongue fasciculations, Truncal ataxia, Facial palsy, Knee clonus, Vocal cord para...	OMIM:211530
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Abnormal circulating lipid concentration, Abnormal cardiovascular system ph...	ORPHA:79086
Multiple Myeloma	Pleural effusion, Hypercalcemia, Weight loss, Hyperproteinemia, Elevated circulating creatinine c...	ORPHA:29073
Beta-Ketothiolase Deficiency	Hyperuricemia, Hypertension, Dehydration, Hypotension, Hyperammonemia, Weight loss, Edema, Tachypnea	ORPHA:134
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Cystic renal dysplasia	OMIM:200995
Joubert Syndrome 2	Failure to thrive, Ataxia, Optic disc coloboma, Central apnea, Episodic tachypnea	OMIM:608091
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Abnormal optic disc morphology, Failure to thrive, Apnea, Tachypnea, Supernumerary nipple	ORPHA:397715
Distal 7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Patent ductus arteriosus	ORPHA:261102
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Recurrent pneumonia, Pleural effusion, Pulmonary fibrosis	OMIM:618935
Postinfectious Vasculitis	Ischemic stroke, Elevated circulating C-reactive protein concentration, Abnormality of the periph...	ORPHA:48435
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia, Skeletal muscle atrophy	ORPHA:1969
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Hypovolemic shock, Camptodactyly of toe, Impaired myocardial contractility, Cardi...	ORPHA:158687
Sporadic Pheochromocytoma/Secreting Paraganglioma	Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Crani...	ORPHA:276621
Diaphragmatic Hernia, Congenital	Congenital diaphragmatic hernia	OMIM:142340
Diaphragmatic Hernia 3	Congenital diaphragmatic hernia	OMIM:610187
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Impaired pain sensation, Elbow flexion contracture, Abnormal autonomi...	OMIM:601559
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Pleural effusion, Cerebellar atrophy, Hypoalbuminemia, Edema, Anasarca	OMIM:254900
Smooth Muscle Dysfunction Syndrome	Atrial septal defect, Hypertension, Pulmonary arterial hypertension, Patent ductus arteriosus, Ta...	OMIM:613834
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Elevated circulating C-reactive protein concentration, Pleuritis, An...	ORPHA:900
Synaptic Congenital Myasthenic Syndromes	Hypoventilation, Exertional dyspnea, Respiratory distress, Facial palsy, Scapular winging, Hand m...	ORPHA:98915
Slc39A8-Cdg	Sudden episodic apnea, Elbow flexion contracture, Cerebellar atrophy, Cerebral cortical atrophy, ...	ORPHA:468699
Ehlers-Danlos Syndrome, Classic-Like, 1	Muscle fiber splitting, Quadricuspid aortic valve, Proximal amyotrophy, Mitral valve prolapse	OMIM:606408
Bannayan-Riley-Ruvalcaba Syndrome	Cachexia, Myopathy, Skeletal muscle atrophy	ORPHA:109
Meier-Gorlin Syndrome 7	Heart block, Decreased body weight, Pulmonary hypoplasia, Atrial septal defect, Ventricular septa...	OMIM:617063
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly	ORPHA:79128
Cholera	Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Dehydration, Hypovolemic shock, Hypo...	ORPHA:173
Anemia, Congenital Dyserythropoietic, Type Iv	Hydrops fetalis, Reduced haptoglobin level, Hyperbilirubinemia, Hypertrophic cardiomyopathy, Unco...	OMIM:613673
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Heart block, Cardiomyopathy, Hyperlipidemia, Elevated circulat...	ORPHA:228308
Congenital Diaphragmatic Hernia	Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia, Respi...	ORPHA:2140
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Atrioventricular block, Arrhythmia	ORPHA:93317
Myasthenic Syndrome, Congenital, 19	Increased variability in muscle fiber diameter, Facial palsy, Recurrent lower respiratory tract i...	OMIM:616720
Mitochondrial Complex I Deficiency, Nuclear Type 2	Apnea, Dystonia, Apneic episodes in infancy	OMIM:618222
Combined Oxidative Phosphorylation Deficiency 42	Cardiomyopathy, Nonimmune hydrops fetalis, Elevated circulating creatine kinase concentration	OMIM:618839
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin concentration, Hyperbilirubinemia, Macroglossia, Bradycardia	OMIM:218700
Xp21 Deletion Syndrome	Decreased muscle mass, Calf muscle hypertrophy, Apneic episodes in infancy, Myopathy	ORPHA:261476
Marshall-Smith Syndrome	Cerebral atrophy, Brittle hair, Highly arched eyebrow, Optic nerve hypoplasia, Decreased body wei...	OMIM:602535
Nipah Virus Disease	Hypotension, Recurrent pharyngitis, Respiratory distress	ORPHA:99825
Congenital Heart Defects And Skeletal Malformations Syndrome	Congenital diaphragmatic hernia, Repeated pneumothoraces, Camptodactyly, Failure to thrive, Atria...	OMIM:617602
H Syndrome	Abnormality of the kidney, Enlarged kidney, Hepatosplenomegaly, Micropenis	ORPHA:168569
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia, Hemiplegia	ORPHA:3217
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Microphallus	OMIM:612651
Collagenoma, Familial Cutaneous	Congestive heart failure, Right ventricular cardiomyopathy, Atrial fibrillation, Vasculitis, Card...	OMIM:115250
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Optic atrophy, Atrial septal defect, Right atrial enlargement	OMIM:615219
Radio-Renal Syndrome	Chylothorax, Pleural effusion, Respiratory distress	ORPHA:3015
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ...	OMIM:612347
Sjogren-Larsson Syndrome	Spastic paraparesis, Spasticity, Flexion contracture	OMIM:270200
Brugada Syndrome 7	Paroxysmal atrial fibrillation, Atrial flutter, ST segment elevation, Permanent atrial fibrillati...	OMIM:613120
Castleman Disease	Anasarca, Restrictive cardiomyopathy, Weight loss, Elevated circulating C-reactive protein concen...	ORPHA:160
Thymic Carcinoma	Diaphragmatic paralysis, Chest pain, Fatigue, Weight loss	ORPHA:99868
Pancreatic And Cerebellar Agenesis	Optic nerve hypoplasia, Apnea, Failure to thrive, Flexion contracture	OMIM:609069
Heart Defects, Congenital, And Other Congenital Anomalies	Congenital diaphragmatic hernia, Perimembranous ventricular septal defect, Transposition of the g...	OMIM:600001
Tafro Syndrome	Anasarca, Pleural effusion, Ascites, Elevated circulating C-reactive protein concentration	ORPHA:457077
Wolfram Syndrome	Optic atrophy, Central apnea, Abnormal autonomic nervous system physiology, Cerebral cortical atr...	ORPHA:3463
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Impaired temperature sensation, Failure to thrive, Parietal cortical at...	ORPHA:98754
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a...	OMIM:108950
Perry Syndrome	Hypoventilation, Tremor, Dystonia, Weight loss, Central hypoventilation	OMIM:168605
Gaucher Disease, Type Ii	Cerebral atrophy, Failure to thrive, Apnea	OMIM:230900
Brachytelephalangic Chondrodysplasia Punctata	Atrial septal defect, Optic nerve hypoplasia, Pulmonary artery stenosis, Tachypnea, Cervical cord...	ORPHA:79345
Brugada Syndrome 3	J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi...	OMIM:611875
Von Hippel-Lindau Disease	Myocarditis, Distal lower limb muscle weakness, Hypertension, Cardiomyopathy, Upper limb muscle w...	ORPHA:892
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Unilateral renal agenesis	OMIM:618188
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Congenital diaphragmatic hernia, Abnormality of the diaphragm, Pulmonary hypoplasia	OMIM:601163
Mucopolysaccharidosis, Type Vi	Pulmonary insufficiency, Cervical myelopathy, Sinus tachycardia, Cardiomyopathy, Pulmonary arteri...	OMIM:253200
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Hypopigmentation of hair, Impaired temperature sensation, Failure to thrive, Parietal cortical at...	ORPHA:98793
Corticosterone Methyloxidase Type I Deficiency	Hyperkalemia, Dehydration, Hypotension, Increased circulating renin level, Hyponatremia, Failure ...	OMIM:203400
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Incoordination, Camptodactyly, Ataxia, Arthrogryposis-like hand anomaly, Spastic paraparesis, Mac...	ORPHA:369891
Czeizel-Losonci Syndrome	Dextrocardia, Spina bifida occulta, Aplasia of the left hemidiaphragm, Spina bifida, Pulmonary hy...	ORPHA:2437
Toxin-Mediated Infectious Botulism	Paralysis, Diaphragmatic paralysis, Cerebral palsy	ORPHA:230800
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Hypopigmentation of hair, Impaired temperature sensation, Failure to thrive, Parietal cortical at...	ORPHA:177904
Early-Onset Familial Hypoaldosteronism	Hyperkalemia, Orthostatic hypotension, Dehydration, Hypotension, Increased circulating renin leve...	ORPHA:556030
Distal Deletion 15Q	Congenital diaphragmatic hernia, Patent ductus arteriosus, Failure to thrive, Hypoplastic left he...	ORPHA:1596
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Hypopigmentation of hair, Impaired temperature sensation, Failure to thrive, Parietal cortical at...	ORPHA:177901
Paramyotonia Congenita Of Von Eulenburg	Periodic hypokalemic paresis, EMG: myopathic abnormalities, Facial muscle hypertrophy	ORPHA:684
Holt-Oram Syndrome	Aplasia of the pectoralis major muscle, Small thenar eminence, Pulmonic stenosis, Mitral valve pr...	OMIM:142900
Ferguson-Bonni Neurodevelopmental Syndrome	Congenital diaphragmatic hernia, Patent foramen ovale, Coronary-pulmonary artery fistula	OMIM:619699
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Babinski sign, Positive Romberg sign, Dysdiadochokinesis, Cerebellar atrophy, Intention tremor, C...	OMIM:301310
Greig Cephalopolysyndactyly Syndrome	Congenital diaphragmatic hernia	ORPHA:380
Cutaneous Mastocytoma	Peau d'orange, Hypotension, Angioedema, Telangiectasia of the skin, Telangiectasia macularis erup...	ORPHA:79455
Marfan Syndrome	Congestive heart failure, Tricuspid valve prolapse, Abnormal left ventricular function, Emphysema...	ORPHA:558
Surfactant Metabolism Dysfunction, Pulmonary, 4	Failure to thrive, Tachypnea	OMIM:300770
Pseudo-Torch Syndrome 3	Apnea	OMIM:618886
Trisomy 18	Congenital diaphragmatic hernia, Cachexia, Hypertonia, Camptodactyly of finger	ORPHA:3380
Wilson Disease	Bone pain, Increased body weight, Failure to thrive, Back pain, Arthralgia, Weight loss, Clumsine...	ORPHA:905
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Foot joint contracture, Flexion contracture, Abnormal circulating selenium concentration, Decreas...	ORPHA:79408
Hereditary Late-Onset Parkinson Disease	Hypomimic face, Gliosis, Cerebral cortical atrophy, Weight loss, Orthostatic hypotension due to a...	ORPHA:411602
Shprintzen-Goldberg Syndrome	Camptodactyly of finger, Apnea, Failure to thrive, Aplasia/Hypoplasia of the abdominal wall muscu...	ORPHA:2462
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Abnormality of the pulmonary vasculature, Diastasis recti, Spina...	ORPHA:2092
Scrub Typhus	Myocarditis, Hypotension	ORPHA:83317
Polyglucosan Body Neuropathy, Adult Form	Abnormal upper motor neuron morphology, Neurogenic bladder, Orthostatic hypotension	OMIM:263570
Holoprosencephaly	Optic atrophy, Congenital diaphragmatic hernia, Spinal cord tumor, Aplasia/Hypoplasia of the lung...	ORPHA:2162
Graves Disease	Congestive heart failure, Weight loss	OMIM:275000
Mercury Poisoning	Hypokalemia, Respiratory distress, Hypertension, Hypotension, Tachycardia, Interstitial pneumonitis	ORPHA:330021
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Decreased circulating renin level, Hypertension, Epistaxis, Intracranial hemorrhage,...	ORPHA:231625
13Q12.3 Microdeletion Syndrome	Congenital diaphragmatic hernia, Camptodactyly, Failure to thrive, Obesity, Recurrent respiratory...	ORPHA:412035
Eosinophilic Gastroenteritis	Elevated circulating C-reactive protein concentration, Ascites, Hematochezia, Weight loss, Edema,...	ORPHA:2070
Hirschsprung Disease	Failure to thrive in infancy, Aganglionic megacolon, Weight loss, Abdominal pain	ORPHA:388
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyperkalemia, Dehydration, Hypotension, Hyponatremia, Failure to thrive, Recurrent respiratory in...	OMIM:264350
Pentalogy Of Cantrell	Congenital diaphragmatic hernia, Abnormal pericardium morphology, Pulmonary hypoplasia, Tetralogy...	ORPHA:1335
Chronic Graft Versus Host Disease	Pneumothorax, Pleural effusion, Ascites, Flexion contracture, Weight loss, Bronchiectasis, Xerost...	ORPHA:99921
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Congenital diaphragmatic hernia, Bilateral lung agenesis, Pulmonary artery stenosis, Congenital p...	OMIM:611812
Galactose Epimerase Deficiency	Weight loss	ORPHA:79238
Zaki Syndrome	Congenital diaphragmatic hernia, Patent foramen ovale, Patent ductus arteriosus	OMIM:619648
Osteopathia Striata With Cranial Sclerosis	Flexion contracture of toe, Spina bifida occulta, Facial palsy, Camptodactyly, Failure to thrive,...	OMIM:300373
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tachycardia, Weight loss, Hypokalemia	OMIM:613239
Kanzaki Disease	Cerebral atrophy, Peripheral axonal neuropathy, Distal sensory impairment, Axonal degeneration	OMIM:609242
Classic Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Frequent falls, Opisthotonus, Weight loss, Optic disc pallor	ORPHA:216866
Scheie Syndrome	Abnormal nerve conduction velocity	ORPHA:93474
Obesity-Hypoventilation Syndrome	Hypoventilation, Obesity	OMIM:257500
Chromosome 1Q41-Q42 Deletion Syndrome	Congenital diaphragmatic hernia, Ventricular septal defect, Pulmonary hypoplasia	OMIM:612530
Xp22.13P22.2 Duplication Syndrome	Congenital diaphragmatic hernia, Truncal obesity, Recurrent upper respiratory tract infections	ORPHA:284180
White-Sutton Syndrome	Congenital diaphragmatic hernia, Cerebral atrophy, Facial hypotonia, Optic nerve hypoplasia, Pate...	OMIM:616364
Andersen Cardiodysrhythmic Periodic Paralysis	Prolonged QT interval, Hypokalemia, Prominent U wave, Prolonged QTc interval, Scapular winging, S...	OMIM:170390
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Mucopolysacchariduria, Splenomegaly, Cardiomegaly	OMIM:252500
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Neonatal death, Central apnea, Respiratory distress	OMIM:616482
Tarp Syndrome	Optic atrophy, Failure to thrive, Apnea, Abnormal hair pattern, Thick eyebrow	ORPHA:2886
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Oromandibular Dystonia	Hyperkinetic movements, Torticollis, Blepharospasm, Pain, Weight loss	ORPHA:93958
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Hypotension, Ascites, Portal hypertension, Weight loss	ORPHA:98850
Combined Oxidative Phosphorylation Deficiency 58	Difficulty walking, Appendicular spasticity, Ragged-red muscle fibers, Exaggerated startle respon...	OMIM:620451
White-Sutton Syndrome	Optic atrophy, Congenital diaphragmatic hernia, Facial hypotonia, Subcortical cerebral atrophy, C...	ORPHA:468678
Fetal Alcohol Syndrome	Congenital diaphragmatic hernia, Atrial septal defect	ORPHA:1915
Hereditary Pheochromocytoma-Paraganglioma	Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Crani...	ORPHA:29072
N-Acetylglutamate Synthase Deficiency	Failure to thrive, Tachypnea, Respiratory distress	OMIM:237310
Hypotrichosis And Recurrent Skin Vesicles	Abnormal EKG	OMIM:613102
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Nephrolithiasis, Nephrocalcinosis, Pr...	ORPHA:79259
Mucopolysaccharidosis Type 2	Optic atrophy, Decreased nerve conduction velocity, Abnormal tricuspid valve morphology, Flexion ...	ORPHA:580
Rat-Bite Fever	Myocarditis, Tendonitis, Pericarditis, Weight loss, Endocarditis	ORPHA:31205
Hennekam-Beemer Syndrome	Optic atrophy, Hypotension, Camptodactyly of finger, Failure to thrive, Telangiectasia of the ski...	ORPHA:2135
Hypokalemic Periodic Paralysis, Type 2	Periodic paralysis	OMIM:613345
Epidermal Nevus Syndrome	Babinski sign, Hypertonia, Rhabdomyosarcoma, Atrophy of the spinal cord, Pain, Progressive spasti...	ORPHA:35125
Diffuse Alveolar Hemorrhage	Weight loss, Pulmonary fibrosis, Elevated circulating creatinine concentration, Pulmonary venous ...	ORPHA:90060
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Cardiomyopathy, Elevated circulating creatine kinase concentration, Increas...	OMIM:610717
Reticular Dysgenesis	Failure to thrive, Recurrent respiratory infections, Dehydration, Weight loss	ORPHA:33355
Stüve-Wiedemann Syndrome	Respiratory distress, Impaired pain sensation, Elbow flexion contracture, Abnormal autonomic nerv...	ORPHA:3206
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Atelectasis, Brain atrophy, Ventricular hypertrophy, Unconjugated hyperbilirubinemia, Tachypnea, ...	OMIM:618278
Cutis Laxa, Autosomal Recessive, Type Ia	Congenital diaphragmatic hernia, Emphysema, Aortic regurgitation, Oligohydramnios, Recurrent resp...	OMIM:219100
Multiple Mitochondrial Dysfunctions Syndrome 7	Apnea, Dystonia, Exaggerated startle response	OMIM:620423
Fryns Syndrome	Congenital diaphragmatic hernia, Polyhydramnios, Aganglionic megacolon, Cerebral cortical atrophy...	ORPHA:2059
Postpoliomyelitis Syndrome	Hypoventilation, Skeletal muscle atrophy	ORPHA:2942
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Congenital diaphragmatic hernia, Cerebral atrophy, Large for gestational age, Polyhydramnios, Cer...	OMIM:614080
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyperkalemia, Dehydration, Hypotension, Increased circulating renin level, Hyponatremia, Failure ...	OMIM:177735
Ataxia-Telangiectasia-Like Disorder 2	Congenital diaphragmatic hernia, Cutaneous telangiectasia, Cerebellar atrophy, Conjunctival telan...	OMIM:615919
Mast Cell Sarcoma	Fatigue, Weight loss	ORPHA:66661
Autosomal Recessive Polycystic Kidney Disease	Acute kidney injury, Enlarged kidney, Polycystic kidney dysplasia, Recurrent urinary tract infect...	ORPHA:731
Myasthenic Syndrome, Congenital, 21, Presynaptic	Apnea, Weakness of facial musculature, Knee flexion contracture	OMIM:617239
Nephroblastoma	Hypertension, Neoplasm of the lung, Weight loss	ORPHA:654
Diamond-Blackfan Anemia 10	Congenital diaphragmatic hernia, Respiratory distress, Morgagni diaphragmatic hernia, Patent duct...	OMIM:613309
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Cardiomyopathy, Epistaxis, Weight loss, Pulmonary fibrosis	ORPHA:79430
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Vocal cord paralysis	ORPHA:2375
Proximal 16P11.2 Microduplication Syndrome	Congenital diaphragmatic hernia, Failure to thrive, Decreased body mass index	ORPHA:370079
Primary Hepatic Neuroendocrine Carcinoma	Ascites, Neoplasm of the lung, Facial telangiectasia, Right ventricular failure, Weight loss, Hea...	ORPHA:100085
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Abnormal cardiac septum morphology	ORPHA:2075
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Enlarged kidney	ORPHA:276280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Muscular dystrophy, Increased variability in muscle fiber diameter, Elevated circulating creatine...	OMIM:616538
Ménétrier Disease	Gastrointestinal hemorrhage, Hypoproteinemia, Weight loss, Peripheral edema, Hypoalbuminemia	ORPHA:2494
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Hypoventilation, Brain atrophy, Elbow contracture, Nemaline bodies	OMIM:620275
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Cachexia, Failure to thrive in infancy	ORPHA:37042
Peripheral Primitive Neuroectodermal Tumor	Spinal cord tumor, Torticollis, Ascites, Elevated circulating alpha-fetoprotein concentration, We...	ORPHA:370348
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Lymphedema, Weight loss, Intracranial hemorrhage	ORPHA:3226
Brugada Syndrome 6	ST segment elevation, Cardiac arrest, Ventricular fibrillation	OMIM:613119
Metachromatic Leukodystrophy	Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Ataxia	ORPHA:512
Developmental Delay With Or Without Dysmorphic Facies And Autism	Congenital diaphragmatic hernia, Atrophy/Degeneration affecting the brainstem, Patent foramen ova...	OMIM:618454
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Limb ataxia, Hypertonia, Oculomotor apraxia, Cachexia, Spastic paraplegia, Papilledema, Paralysis	ORPHA:2072
Joubert Syndrome 21	Optic atrophy, Megalopapilla, Dyspnea, Apnea, Ataxia	OMIM:615636
Brugada Syndrome 8	Ventricular tachycardia, Right bundle branch block, ST segment elevation	OMIM:613123
Inflammatory Pseudotumor Of The Liver	Asthenia, Weight loss, Abdominal pain	ORPHA:90003
Acrocallosal Syndrome	Congenital diaphragmatic hernia	ORPHA:36
Acquired Von Willebrand Syndrome	Gastrointestinal hemorrhage, Aortic regurgitation, Melena, Hypotension, Pulmonic stenosis, Aortic...	ORPHA:99147
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Edema, Vasculitis, Weight loss, Elevated circulating C-reactive protein concentration	ORPHA:324964
Halperin-Birk Syndrome	Optic atrophy, Congenital diaphragmatic hernia, Perimembranous ventricular septal defect, Failure...	OMIM:618651
Craniofrontonasal Dysplasia	Congenital diaphragmatic hernia, Camptodactyly of finger	ORPHA:1520
Schisis Association	Congenital diaphragmatic hernia, Small for gestational age, Spina bifida	ORPHA:63862
Autosomal Recessive Spondylocostal Dysostosis	Congenital diaphragmatic hernia, Camptodactyly of finger, Anomalous pulmonary venous return, Spin...	ORPHA:2311
Spastic Paraplegia 9A, Autosomal Dominant	Abnormal upper motor neuron morphology, Resting tremor, Gait ataxia, Corpus callosum atrophy, Gen...	OMIM:601162
Acquired Hypertrichosis Lanuginosa	Macroglossia, Weight loss	ORPHA:2221
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Abnormal muscle fiber morphology, Facial palsy, Skeletal muscle atrophy	ORPHA:3068
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Muscular dystrophy, Skeletal muscle hypertrophy, Elevated circulating creatine kinase concentrati...	OMIM:613150
Lowry-Maclean Syndrome	Congenital diaphragmatic hernia, Atrioventricular canal defect	ORPHA:2409
African Trypanosomiasis	Myocarditis, Congestive heart failure, Myelitis, Pericarditis, Papilledema, Myelopathy, Weight lo...	ORPHA:3385
Vacterl/Vater Association	Congenital diaphragmatic hernia, Polyhydramnios, Aplasia/Hypoplasia of the lungs, Abnormal cardia...	ORPHA:887
Hyperoxaluria, Primary, Type I	Optic atrophy, Hyperoxaluria, Dehydration, Optic neuropathy, Intermittent claudication, Raynaud p...	OMIM:259900
Cebalid Syndrome	Congenital diaphragmatic hernia	OMIM:618774
Neuroblastoma	Respiratory distress, Hypertension, Weight loss, Increased circulating ferritin concentration, Ho...	ORPHA:635
Mosaic Trisomy 1	Congenital diaphragmatic hernia, Polyhydramnios, Elbow flexion contracture, Pulmonary artery atre...	ORPHA:1692
Late-Onset Familial Hypoaldosteronism	Hyperkalemia, Orthostatic hypotension, Hypotension, Increased circulating renin level, Hyponatrem...	ORPHA:556037
Congenital Disorder Of Deglycosylation 1	Decreased sensory nerve conduction velocity, Facial hypotonia, Chorea, Athetosis, Decreased body ...	OMIM:615273
Primary Hyperoxaluria	Optic atrophy, Heart block, Hyperoxaluria, Cardiomyopathy, Optic disc pallor, Intermittent claudi...	ORPHA:416
Acute Adrenal Insufficiency	Hyperkalemia, Orthostatic hypotension, Hyperuricemia, Recurrent acute respiratory tract infection...	ORPHA:95409
Microsporidiosis	Myocarditis, Myositis, Bronchitis, Cachexia, Dehydration, Bronchiolitis, Weight loss, Pneumonia, ...	ORPHA:2552
Reactive Arthritis	Aortic regurgitation, Pericarditis, Abnormal pleura morphology, Pulmonary fibrosis, Joint swellin...	ORPHA:29207
Cockayne Syndrome Type 1	Optic atrophy, Foot joint contracture, Absent brainstem auditory responses, Failure to thrive, At...	ORPHA:90321
Beckwith-Wiedemann Syndrome	Enlarged kidney, Ureteral duplication, Hepatomegaly, Congenital megaureter, Hypercalciuria, Vesic...	ORPHA:116
Adrenocortical Carcinoma	Hypokalemia, Increased body weight, Hypertension, Lung adenocarcinoma, Weight loss, Palpitations	ORPHA:1501
Nijmegen Breakage Syndrome	Cachexia, Rhabdomyosarcoma, Skeletal muscle atrophy	ORPHA:647
Parkinson Disease 4, Autosomal Dominant	Parkinsonism, Weight loss, Orthostatic hypotension, Abnormal autonomic nervous system physiology	OMIM:605543
Central Diabetes Insipidus	Hyponatremia, Failure to thrive, Dehydration, Weight loss	ORPHA:178029
Pyomyositis	Myositis, Sudden cardiac death, Weight loss	ORPHA:764
Congenital Tricuspid Stenosis	Congestive heart failure, Hypotension, Tricuspid stenosis, Pulmonary arterial hypertension, Tricu...	ORPHA:95459
Glycogen Storage Disease Xii	Muscle fiber splitting, Reduced haptoglobin level, Hyperbilirubinemia, Elevated circulating creat...	OMIM:611881
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Hypopnea	OMIM:619482
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Enlarged kidney, Bifid ureter, Nephroblastoma, Renal malrotation, Multicystic kidney dysplasia	ORPHA:500095
Simpson-Golabi-Behmel Syndrome	Congenital diaphragmatic hernia, Polyhydramnios, Prolonged QT interval, Cardiomyopathy, Ventricul...	ORPHA:373
Abnormal Hair, Joint Laxity, And Developmental Delay	Sinus bradycardia, Mitral regurgitation, Tricuspid regurgitation	OMIM:261990
Mitochondrial Complex I Deficiency, Nuclear Type 9	Hypoventilation, Neonatal death	OMIM:618232
Relapsing Fever	Elevated circulating C-reactive protein concentration, Hypotension, Increased total bilirubin, Ep...	ORPHA:91547
Donnai-Barrow Syndrome	Congenital diaphragmatic hernia, Ventricular septal defect, Diaphragmatic eventration	OMIM:222448
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Melena, Cachexia, Abnormal heart morphology, Hematochezia, Intestina...	ORPHA:79076
Purine Nucleoside Phosphorylase Deficiency	Hypertonia, Spasticity, Cerebral palsy, Ataxia, Spastic paraparesis, Abnormal central motor function	ORPHA:760
Native American Myopathy	Abnormality of skeletal muscle fiber size, Camptodactyly, Congenital contracture, Muscle fiber at...	ORPHA:168572
Tsh-Secreting Pituitary Adenoma	Congestive heart failure, Hypokalemia, Supraventricular arrhythmia, Hypertension, Hypotension, Pe...	ORPHA:91347
Yellow Fever	Hematemesis, Reduced left ventricular ejection fraction, Bradycardia, Capillary leak, Hyperbiliru...	ORPHA:99829
Brugada Syndrome 5	ST segment elevation, Ventricular fibrillation, Bundle branch block	OMIM:612838
Chronic Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Central apnea	ORPHA:529808
Acute Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Central apnea	ORPHA:529799
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cerebral atrophy, Hypertyrosinemia, Ragged-red muscle fibers, Gliosis, Cerebellar atrophy, Hypert...	OMIM:124000
Erythrokeratodermia Variabilis	Weight loss	ORPHA:317
Dengue Fever	Gastrointestinal hemorrhage, Hypoproteinemia, Hypotension, Ascites, Epistaxis, Cerebral hemorrhage	ORPHA:99828
Johanson-Blizzard Syndrome	Situs inversus totalis, Atrial septal defect, Hypocalcemia, Ascites, Portal hypertension, Increas...	OMIM:243800
Holocarboxylase Synthetase Deficiency	Hyperventilation, Tachypnea, Alopecia	OMIM:253270
Stickler Syndrome	Bone pain, Cachexia, Hemiplegia/hemiparesis, Slender build, Arthralgia, Skeletal muscle atrophy, ...	ORPHA:828
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Hypermanganesemia With Dystonia 1	Bradykinesia, Abnormality of extrapyramidal motor function, Poor fine motor coordination, Tremor,...	OMIM:613280
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Congenital diaphragmatic hernia, Bicuspid aortic valve, Patent foramen ovale, Elbow flexion contr...	OMIM:245600
Foodborne Botulism	Paralysis, Diaphragmatic paralysis, Cerebral palsy	ORPHA:228371
Pseudohypoparathyroidism Type 2	Hypocalcemic seizures, Prolonged QT interval, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia	ORPHA:94090
Recessive Mitochondrial Ataxia Syndrome	ST segment elevation, Increased serum pyruvate	ORPHA:94125
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Tachypnea	OMIM:245050
Cryptogenic Organizing Pneumonia	Pneumothorax, Weight loss, Elevated circulating C-reactive protein concentration, Respiratory dis...	ORPHA:1302
Meacham Syndrome	Enlarged kidney, Horseshoe kidney	OMIM:608978
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Respiratory tract infection, Weight loss...	ORPHA:79127
Autoimmune Hypoparathyroidism	Hypocalcemic seizures, Prolonged QT interval, Hypocalcemia, Ventricular arrhythmia, Hypocalcemic ...	ORPHA:36913
Rh Deficiency Syndrome	Reduced haptoglobin level, Hyperbilirubinemia, Tachycardia, Tachypnea, Oligohydramnios	ORPHA:71275
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyperkalemia, Dehydration, Hypotension, Increased circulating renin level, Hyponatremia	OMIM:620125
Campomelic Dysplasia	Respiratory distress, Spina bifida, Failure to thrive, Short nail, Apnea, Contracture of the dist...	OMIM:114290
Helsmoortel-Van Der Aa Syndrome	Enuresis nocturna, Recurrent urinary tract infections, Enlarged kidney	OMIM:615873
Glioblastoma	Paralysis	ORPHA:360
Inflammatory Bowel Disease 11	Abdominal pain, Weight loss	OMIM:191390
Loeys-Dietz Syndrome 6	Congenital diaphragmatic hernia, Ventricular hypertrophy, Transient ischemic attack, Camptodactyl...	OMIM:619656
Hyperparathyroidism, Neonatal Severe	Failure to thrive, Tachypnea, Dyspnea, Calcinosis	OMIM:239200
Immunodeficiency 27A	Pneumonia, Hypoalbuminemia, Weight loss	OMIM:209950
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormal lung lobation, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the lungs	ORPHA:2063
Hamamy Syndrome	Atrial septal defect, Mitral regurgitation, Complete atrioventricular canal defect, Prolonged QRS...	OMIM:611174
Benign Recurrent Intrahepatic Cholestasis	Abdominal pain, Fatigue, Weight loss	ORPHA:65682
Thoracoabdominal Syndrome	Congenital diaphragmatic hernia, Ectopia cordis, Transposition of the great arteries, Pulmonary h...	OMIM:313850
Mosaic Variegated Aneuploidy Syndrome	Muscular dystrophy, Rhabdomyosarcoma, Apnea	ORPHA:1052
Chromosome 15Q25 Deletion Syndrome	Congenital diaphragmatic hernia, Dextrocardia, Coronary artery fistula, Ventricular septal defect...	OMIM:614294
Aymé-Gripp Syndrome	Congenital diaphragmatic hernia, Camptodactyly, Cerebral cortical atrophy, Pericardial effusion, ...	ORPHA:1272
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Hepatomegaly, Renal agenesis, Cardiomegaly, Horseshoe kidney	OMIM:306955
Homozygous Familial Hypercholesterolemia	Tendon xanthomatosis, Abnormal left ventricular function, Hypercholesterolemia, Abnormal tendon m...	ORPHA:391665
Lysosomal Acid Lipase Deficiency	Cachexia, Failure to thrive, Weight loss, Abdominal pain	ORPHA:275761
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Medial flaring of the eyebrow, Aspiration, Hirsutism, Elbow flexion contracture, Curly hair, Hori...	OMIM:619503
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Neurogenic bladder, Spasticity, Vocal cord paralysis, Dystonia, Myoclonus	ORPHA:500144
Congenital Tracheomalacia	Failure to thrive, Apnea, Dyspnea, Intercostal retractions	ORPHA:95430
Pseudomyxoma Peritonei	Abdominal pain, Weight loss	ORPHA:26790
Meningococcal Meningitis	Papilledema, Hypotension, Elevated circulating C-reactive protein concentration, Shock	ORPHA:33475
Leishmaniasis	Night sweats, Arthralgia, Fatigue, Weight loss	ORPHA:507
Pulmonary Hypertension, Primary, 4	Elevated pulmonary artery pressure, Atrial flutter, Pulmonary arterial hypertension with lack of ...	OMIM:615344
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud...	OMIM:609620
Congenital Total Pulmonary Venous Return Anomaly	Cardiomegaly, Apneic episodes in infancy, Mixed total anomalous pulmonary venous connection, Tran...	ORPHA:99125
Pseudohypoaldosteronism Type 2	Periodic paralysis	ORPHA:757
Cutis Laxa, Autosomal Recessive, Type Ic	Atelectasis, Emphysema, Morgagni diaphragmatic hernia, Patent foramen ovale, Ascites, Recurrent p...	OMIM:613177
Hypercalcemia, Infantile, 1	Hypercalcemia, Failure to thrive, Dehydration, Weight loss	OMIM:143880
Inflammatory Bowel Disease (Crohn Disease) 1	Abdominal pain, Weight loss	OMIM:266600
Infant Botulism	Hypertension, Cardiac arrest, Hypotension, Hyponatremia, Xerostomia	ORPHA:178478
Cataracts, Spastic Paraparesis, And Speech Delay	Spastic paraparesis	OMIM:619338
Axial Mesodermal Dysplasia Spectrum	Congenital diaphragmatic hernia, Cerebral cortical atrophy, Oligohydramnios, Aplasia/Hypoplasia o...	ORPHA:1834
Leprechaunism	Enlarged kidney, Hepatomegaly, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged ovaries	ORPHA:508
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Paralysis	ORPHA:83601
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia, Hypotension	ORPHA:91354
Hypotonia-Cystinuria Syndrome	Ragged-red muscle fibers, Facial palsy	OMIM:606407
7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Abnormal optic disc morphology, Aortic valve stenosis, Obesity, ...	ORPHA:96121
Thakker-Donnai Syndrome	Congenital diaphragmatic hernia, Ventricular septal defect, Transposition of the great arteries, ...	ORPHA:1780
Igg4-Related Retroperitoneal Fibrosis	Large vessel vasculitis, Renal tubular epithelial necrosis, Elevated circulating C-reactive prote...	ORPHA:49041
Granulomatous Disease, Chronic, X-Linked	Pleural effusion, Recurrent pneumonia, Atelectasis, Ascites	OMIM:306400
Hydroxykynureninuria	Tachycardia, Abnormal circulating tryptophan concentration, Hypotension	ORPHA:79155
Chronic Beryllium Disease	Hypersensitivity pneumonitis, Weight loss, Pulmonary fibrosis, Lymphocytic interstitial pneumonia...	ORPHA:133
1Q41Q42 Microdeletion Syndrome	Congenital diaphragmatic hernia, Pulmonary hypoplasia	ORPHA:250999
Fanconi Anemia	Aganglionic megacolon, Abnormal aortic valve morphology, Azoospermia, Hypertrophic cardiomyopathy...	ORPHA:84
Mu-Heavy Chain Disease	Weight loss	ORPHA:100024
Thymoma	Myositis, Weight loss, Neoplasm of the lung, Neoplasia of the pleura	ORPHA:99867
Autosomal Recessive Malignant Osteopetrosis	Apnea, Tremor, Abnormality of hair texture, Optic nerve compression	ORPHA:667
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Spastic paraparesis, Decreased body weight, Small for gestational age	ORPHA:391408
Late-Onset Isolated Acth Deficiency	Orthostatic hypotension, Hyperuricemia, Hypotension, Hyponatremia, Failure to thrive, Hypercalcem...	ORPHA:199299
X-Linked Agammaglobulinemia	Hypocalcemia, Abnormal lung morphology, Failure to thrive, Recurrent pneumonia, Weight loss	ORPHA:47
Wolf-Hirschhorn Syndrome	Optic atrophy, Congenital diaphragmatic hernia, Atrial septal defect, Abnormal heart valve morpho...	ORPHA:280
Diethylstilbestrol Syndrome	Small for gestational age, Central apnea	ORPHA:1916
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis	OMIM:170500
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Muscle fiber atrophy, Increased muscle lipid content, Rhabdomyolysis	ORPHA:228302
Combined Oxidative Phosphorylation Deficiency 12	Bradykinesia, Babinski sign, Ragged-red muscle fibers, Spastic tetraparesis, Dystonia	OMIM:614924
Renal Nutcracker Syndrome	Orthostatic hypotension, Tachycardia, Abnormal autonomic nervous system physiology, Weight loss, ...	ORPHA:71273
Viss Syndrome	Pneumothorax, Atrial septal defect, Pulmonary artery aneurysm, Polyhydramnios, Emphysema, Epidura...	OMIM:619472
Multiple Sulfatase Deficiency	Optic atrophy, Abnormality of peripheral nerve conduction	ORPHA:585
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Congenital diaphragmatic hernia, Respiratory distress	OMIM:606164
Lynch Syndrome	Gastrointestinal hemorrhage, Cardiac diverticulum, Flexion contracture, Weight loss	ORPHA:144
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Hereditary Angioedema Type 1	Edema of the dorsum of hands, Respiratory distress, Tongue edema, Hypotension, Intestinal edema, ...	ORPHA:100050
Alexander Disease	Hypertension, Facial palsy, Hypotension, Abnormal autonomic nervous system physiology, Failure to...	ORPHA:58
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Aganglionic megacolon, Prolonged QT interval, Arrhythmia	ORPHA:2151
Tick-Borne Encephalitis	Hyperkinetic movements, Tongue fasciculations, Incoordination, Tremor, Facial palsy, Speech aprax...	ORPHA:297
Cardiospondylocarpofacial Syndrome	Congenital diaphragmatic hernia, Muscular ventricular septal defect, Patent foramen ovale, Failur...	OMIM:157800
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Ragged-red muscle fibers, Generalized limb muscle atrophy, Scapular winging	OMIM:600462
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Bradykinesia, Hypomimic face, Hypertonia, Truncal ataxia, Poor fine motor coordination, Dysdiadoc...	ORPHA:309854
Wilson Disease	Limb muscle weakness, Decreased nerve conduction velocity, Hypoesthesia	OMIM:277900
Rajab Interstitial Lung Disease With Brain Calcifications 1	Cerebral atrophy, Abnormal pulmonary interstitial morphology, Emphysema, Hypocalcemia, Ascites, P...	OMIM:613658
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Congenital diaphragmatic hernia, Polyhydramnios, Hydrops fetalis, Pulmonary hypoplasia, Atrial se...	OMIM:616546
Kaposi Sarcoma	Abnormal lung morphology, Lymphedema, Weight loss	ORPHA:33276
Hutchinson-Gilford Progeria Syndrome	Left ventricular systolic dysfunction, Abnormal aortic valve morphology, Severe failure to thrive...	ORPHA:740
Carney Triad	Gastrointestinal hemorrhage, Leiomyosarcoma, Hypertension, Ascites, Arrhythmia, Tachycardia	ORPHA:139411
Diets-Jongmans Syndrome	Congenital diaphragmatic hernia, Gliosis, Polyhydramnios, Ventricular septal defect	OMIM:618846
Mycophenolate Mofetil Embryopathy	Congenital diaphragmatic hernia, Hydrops fetalis, Ventricular septal defect	ORPHA:268249
Pyruvate Carboxylase Deficiency	Hypertaurinemia, Elevated plasma citrulline, Hyperglutamatemia, Increased serum pyruvate, Dehydra...	ORPHA:3008
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis	OMIM:145260
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia, Patent foramen ovale, Abnormal heart morphology, Recurrent aspir...	ORPHA:2745
Polycythemia Vera	Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Budd-Chiari syndrome, Portal hyperten...	ORPHA:729
Systemic Mastocytosis With Associated Hematologic Neoplasm	Syncope, Hypotension, Weight loss, Tachycardia	ORPHA:98849
Familial Hypoaldosteronism	Hyperkalemia, Orthostatic hypotension, Hypotension, Hypovolemia, Increased circulating renin leve...	ORPHA:427
Imerslund-Gräsbeck Syndrome	Tachycardia, Failure to thrive, Weight loss	ORPHA:35858
Seckel Syndrome	Cachexia	ORPHA:808
Osteosarcoma	Pain, Weight loss	ORPHA:668
Short Qt Syndrome 7	Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death	OMIM:620231
Hurler Syndrome	Camptodactyly of finger, Macroglossia, Abnormal nerve conduction velocity	ORPHA:93473
Riddle Syndrome	Abnormal pulmonary interstitial morphology, Bronchitis, Conjunctival telangiectasia, Recurrent si...	ORPHA:420741
Matthew-Wood Syndrome	Congenital diaphragmatic hernia, Abnormal lung morphology, Failure to thrive, Pulmonary hypoplasia	ORPHA:2470
Pelizaeus-Merzbacher Disease In Female Carriers	Hand apraxia, Babinski sign, Spastic paraparesis, Lower limb spasticity	ORPHA:280229
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Peau d'orange, Hypotension	ORPHA:79456
Cap Polyposis	Hematochezia, Weight loss	ORPHA:160148
Joubert Syndrome 5	Ataxia, Central apnea, Episodic tachypnea	OMIM:610188
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Optic atrophy, Hypoventilation, Elbow flexion contracture, Hip contracture, Obesity	OMIM:618493
Corticosteroid-Binding Globulin Deficiency	Hypertension, Reduced circulating cortisol-binding globulin concentration, Hypotension, Hypokalemia	OMIM:611489
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Weight loss, Ascites, Portal hypertension	ORPHA:131
Congenital Disorder Of Glycosylation, Type Iib	Optic atrophy, Cerebral atrophy, Hypoventilation, Long eyelashes	OMIM:606056
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypoventilation, High anterior hairline, Exaggerated startle response, Apnea, Dystonia, Optic dis...	ORPHA:438213
Acute Promyelocytic Leukemia	Diffuse alveolar hemorrhage, Epistaxis, Weight loss	ORPHA:520
Thymic Neuroendocrine Tumor	Pancreatic islet cell adenoma, Carcinoid tumor, Weight loss, Chest pain, Neuroendocrine neoplasm	ORPHA:97289
Semilobar Holoprosencephaly	Limb dystonia, Abnormality of the autonomic nervous system, Failure to thrive, Flexion contractur...	ORPHA:220386
Alobar Holoprosencephaly	Limb dystonia, Abnormality of the autonomic nervous system, Failure to thrive, Flexion contractur...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Limb dystonia, Abnormality of the autonomic nervous system, Failure to thrive, Flexion contractur...	ORPHA:93926
Lobar Holoprosencephaly	Limb dystonia, Abnormality of the autonomic nervous system, Failure to thrive, Flexion contractur...	ORPHA:93924
Secondary Short Bowel Syndrome	Aganglionic megacolon, Dehydration, Failure to thrive, Weight loss, Abnormal blood ion concentrat...	ORPHA:95427
Rabin-Pappas Syndrome	Hypoventilation, Highly arched eyebrow, Optic nerve hypoplasia, Obesity, Failure to thrive in inf...	OMIM:620155
Non-Syndromic Posterior Hypospadias	Congenital diaphragmatic hernia, Small for gestational age	ORPHA:95706
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Progressive cerebellar ataxia, Cerebral cortical atrophy, Failure to thrive, Impaired vibratory s...	ORPHA:415
Dpagt1-Cdg	Optic atrophy, Global brain atrophy, Prolonged QT interval, Camptodactyly, Diffuse optic disc pal...	ORPHA:86309
Limb Body Wall Complex	Congenital diaphragmatic hernia, Ectopia cordis, Spina bifida occulta, Diastasis recti, Spina bif...	ORPHA:2369
17Q24.2 Microdeletion Syndrome	Prolonged QT interval, Pulmonic stenosis, Failure to thrive in infancy, Patent ductus arteriosus ...	ORPHA:529962
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyperkalemia, Azoospermia, Dehydration, Hypotension, Increased circulating renin level, Hyponatre...	ORPHA:90791
Granulomatosis With Polyangiitis	Pleuritis, Localized pulmonary hemorrhage, Retinal hemorrhage, Elevated bronchoalveolar lavage fl...	OMIM:608710
Peritoneal Cystic Mesothelioma	Abdominal pain, Weight loss	ORPHA:168816
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Bilateral camptodactyly, Spastic paraparesis, Fatigue, Back pain	OMIM:619234
45,X/46,Xy Mixed Gonadal Dysgenesis	Prolonged QT interval, Azoospermia, Tachycardia, Obesity, Muscle hypertrophy of the lower extremi...	ORPHA:1772
Orofaciodigital Syndrome Type 2	Tachypnea, Apnea, Thick hair	ORPHA:2751
Mullegama-Klein-Martinez Syndrome	Congenital diaphragmatic hernia, Facial palsy, Failure to thrive, Apical muscular ventricular sep...	OMIM:301022
Unilateral Polymicrogyria	Apnea, Giant somatosensory evoked potentials	ORPHA:268943
Malignant Peritoneal Mesothelioma	Abdominal pain, Weight loss	ORPHA:168811
Pde4D Haploinsufficiency Syndrome	Obesity, Hypotension	ORPHA:439822
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Chills, Fatigue, Weight loss	ORPHA:86884
Erythrocytosis, Familial, 2	Failure to thrive, Cerebral hemorrhage, Hypotension, Pulmonary arterial hypertension	OMIM:263400
Neuroendocrine Neoplasm Of Appendix	Tricuspid stenosis, Palpitations, Hypotension, Heart murmur	ORPHA:100079
Kabuki Syndrome	Congenital diaphragmatic hernia, Cerebral cortical atrophy, Failure to thrive, Obesity, Abnormal ...	ORPHA:2322
Acro-Renal-Mandibular Syndrome	Abnormal lung lobation, Pulmonary hypoplasia, Oligohydramnios, Congenital diaphragmatic hernia	ORPHA:958
Inhalational Botulism	Paralysis	ORPHA:254504
Celiac Disease, Susceptibility To, 1	Abdominal pain, Failure to thrive, Arthralgia, Ataxia, Weight loss	OMIM:212750
Smith-Lemli-Opitz Syndrome	Optic atrophy, Abnormal lung lobation, Congenital diaphragmatic hernia, Aganglionic megacolon, Po...	ORPHA:818
Cystinosis, Nephropathic	Cerebral atrophy, Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nitrogen, Decreased c...	OMIM:219800
Renal Tubular Acidosis Iii	Periodic paralysis	OMIM:267200
2Q37 Microdeletion Syndrome	Congenital diaphragmatic hernia, Obesity	ORPHA:1001
Inhalational Anthrax	Hypotension, Internal hemorrhage, Respiratory distress	ORPHA:247257
Cornelia De Lange Syndrome 1	Optic atrophy, Congenital diaphragmatic hernia, Elbow flexion contracture, Optic disc coloboma, P...	OMIM:122470
Simpson-Golabi-Behmel Syndrome, Type 1	Abnormal lung lobation, Congenital diaphragmatic hernia, Polyhydramnios, Transposition of the gre...	OMIM:312870
Post-Traumatic Pituitary Deficiency	Hypotension	ORPHA:95619
Isolated Anencephaly	Congenital diaphragmatic hernia	ORPHA:563609
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Congenital diaphragmatic hernia, Abnormal heart morphology, Oligohydramnios	OMIM:617641
Pseudohypoparathyroidism Type 1A	Calcinosis, Hypocalcemic seizures, Prolonged QT interval, Hypocalcemia, Hypertension, Obesity, Hy...	ORPHA:79443
Familial Thrombocytosis	Transient ischemic attack, Cerebral ischemia, Pulmonary arterial hypertension, Weight loss, Syncope	ORPHA:71493
Solitary Fibrous Tumor	Hypophosphatemic rickets, Neoplasm of the lung, Weight loss, Neoplasia of the pleura, Reduced C-p...	ORPHA:2126
Renal Tubular Dysgenesis	Oligohydramnios, Pulmonary hypoplasia, Hypotension	OMIM:267430
Acromesomelic Dysplasia 4	Third degree atrioventricular block	OMIM:619636
Porphyria, Acute Intermittent	Paralysis, Respiratory paralysis	OMIM:176000
Pancreatitis, Hereditary	Pleural effusion	OMIM:167800
Oculocerebrocutaneous Syndrome	Congenital diaphragmatic hernia	ORPHA:1647
Nodular Non-Suppurative Panniculitis	Abdominal pain, Myalgia, Arthralgia, Weight loss	ORPHA:33577
Autosomal Dominant Hypocalcemia	Optic atrophy, Congestive heart failure, Hypocalcemia, Hypotension, Hypomagnesemia, Arrhythmia, H...	ORPHA:428
Alström Syndrome	Hypertriglyceridemia, Congestive heart failure, Truncal obesity, Respiratory distress, Hypertensi...	ORPHA:64
Plague	Hematemesis, Tachycardia, Acute infectious pneumonia, Respiratory distress, Hypotension, Arrhythm...	ORPHA:707
Pseudohypoparathyroidism Type 1C	Calcinosis, Hypocalcemic seizures, Prolonged QT interval, Hypocalcemia, Obesity, Hypocalcemic tet...	ORPHA:79444
Immunodeficiency 31C	Bronchiectasis, Recurrent respiratory infections, Skeletal muscle atrophy, Weight loss	OMIM:614162
Addison Disease	Hyperkalemia, Orthostatic hypotension, Hyperuricemia, Hypotension, Increased circulating renin le...	ORPHA:85138
Ichthyosis, Congenital, Autosomal Recessive 2	Paralysis	OMIM:242100
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Recurrent pharyngitis, Recurrent bronchitis, Hypotension, Hyponatremia, Failure to thrive, Recurr...	ORPHA:293978
Acute Radiation Syndrome	Interstitial pneumonitis, Hypotension, Telangiectasia	ORPHA:454831
Prader-Willi Syndrome	Hypoventilation, Impaired pain sensation, Obesity, Decreased muscle mass, Class III obesity, Abdo...	OMIM:176270
Eales Disease	Spastic paraparesis, Optic disc pallor	ORPHA:40923
Norrie Disease	Optic atrophy, Hypertonia, Cachexia, Clonus, Cerebral cortical atrophy, Failure to thrive	ORPHA:649
Multiple Pterygium Syndrome, Escobar Variant	Congenital diaphragmatic hernia, Hydrops fetalis, Weakness of facial musculature, Camptodactyly, ...	OMIM:265000
Hypermobile Ehlers-Danlos Syndrome	Decreased nerve conduction velocity, Abnormal autonomic nervous system physiology, Tendon rupture...	ORPHA:285
Aicardi-Goutières Syndrome	Hypertonia, Abnormality of extrapyramidal motor function, Myositis, Extrapyramidal muscular rigid...	ORPHA:51
Refractory Celiac Disease	Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Weight loss, Hypoalbuminemia	ORPHA:398063
Proteus Syndrome	Enlarged kidney, Long penis, Enlarged polycystic ovaries, Renal cyst, Splenomegaly	ORPHA:744
Klatskin Tumor	Abdominal pain, Fatigue, Weight loss	ORPHA:99978
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Perlman Syndrome	Congenital diaphragmatic hernia, Large for gestational age, Polyhydramnios, Hypoplasia of the abd...	OMIM:267000
Igg4-Related Aortitis	Low back pain, Abdominal pain, Weight loss	ORPHA:449400
Cockayne Syndrome Type 3	Peripheral axonal neuropathy, Brain atrophy, Flexion contracture, Skeletal muscle atrophy, Abnorm...	ORPHA:90324
Congenital Isolated Acth Deficiency	Hyponatremia, Hypotension	ORPHA:199296
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Pleural empyema, Recurrent pneumonia, Recurrent sinopulmonary infections, Recurrent upper respira...	OMIM:147060
Arnold-Chiari Malformation Type I	Babinski sign, Abnormality of the musculature of the lower limbs, Progressive cerebellar ataxia, ...	ORPHA:268882
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Congenital Tufting Enteropathy	Failure to thrive, Dehydration, Weight loss, Optic disc coloboma	ORPHA:92050
Oculodentodigital Dysplasia	Optic atrophy, Spasticity, Camptodactyly of finger, Ataxia, Spastic paraparesis	ORPHA:2710
Brugada Syndrome 4	Syncope, Shortened QT interval, Atrial fibrillation	OMIM:611876
Encephalocraniocutaneous Lipomatosis	Hypertonia, Tetraplegia, Spasticity, Hemiparesis, Rigidity, Paralysis, Hemiplegia	ORPHA:2396
Acute Monoblastic/Monocytic Leukemia	Fatigue, Weight loss	ORPHA:514
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Congenital diaphragmatic hernia, Camptodactyly, Contracture of the proximal interphalangeal joint...	OMIM:301044
Caroli Disease	Conjugated hyperbilirubinemia, Weight loss, Ascites, Portal hypertension	ORPHA:53035
Acrofacial Dysostosis 1, Nager Type	Congenital diaphragmatic hernia, Aganglionic megacolon, Tetralogy of Fallot, Patent ductus arteri...	OMIM:154400
Glucose-Galactose Malabsorption	Dehydration, Hypernatremia, Failure to thrive, Hypercalcemia, Weight loss	ORPHA:35710
Carney-Stratakis Syndrome	Abdominal pain, Paraganglioma, Weight loss	ORPHA:97286
Cushing Syndrome Due To Ectopic Acth Secretion	Myocardial infarction, Small cell lung carcinoma, Hypertension, Increased body weight, Capillary ...	ORPHA:99889
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abdominal pain, Myalgia, Weight loss	ORPHA:54251
Hydrolethalus Syndrome 1	Abnormal lung lobation, Polyhydramnios, Agenesis of the diaphragm, Ventricular septal defect, Com...	OMIM:236680
Argininemia	Spastic gait, Cerebellar atrophy, Frequent falls, Spastic paraparesis, Progressive spastic quadri...	OMIM:207800
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebral atrophy, Hypoventilation, Cerebral cortical neurodegeneration, Neuronal loss in central ...	OMIM:203700
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyperkalemia, Dehydration, Hypotension, Hypovolemia, Abnormal circulating cholesterol concentrati...	ORPHA:168558
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hyperalaninemia, Hyperammonemia, Hypernatremia, Hypoornithinemia, Hyperprolinemia, Low plasma cit...	OMIM:615751
Medullary Thyroid Carcinoma	Pheochromocytoma, Weight loss	ORPHA:1332
Autoimmune Pulmonary Alveolar Proteinosis	Chest pain, Fatigue, Weight loss	ORPHA:747
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyperkalemia, Dehydration, Hypotension, Hypovolemia, Abnormal circulating cholesterol concentrati...	ORPHA:289548
Gallbladder Neuroendocrine Tumor	Chronic fatigue, Neuroendocrine neoplasm, Episodic abdominal pain, Weight loss	ORPHA:100086
Poland Syndrome	Congenital diaphragmatic hernia, Aplasia of the pectoralis major muscle, Dextrocardia, Spina bifi...	ORPHA:2911
Bartter Syndrome, Type 3	Hyperchloriduria, Hypokalemia, Dehydration, Hypotension, Increased circulating renin level	OMIM:607364
Say-Barber-Miller Syndrome	Optic atrophy, Babinski sign, Knee flexion contracture, Elbow flexion contracture, Lower limb hyp...	ORPHA:3132
Parathyroid Carcinoma	Hypercalcemia, Shortened QT interval, Hypophosphatemia, Weight loss	ORPHA:143
Fragile X-Associated Tremor/Ataxia Syndrome	Hypertension, Hypotension, Abnormal autonomic nervous system physiology, Cerebral cortical atroph...	ORPHA:93256
Multiple Endocrine Neoplasia Type 1	Hematemesis, Melena, Hypertension, Dehydration, Cranial nerve compression, Shortened QT interval,...	ORPHA:652
Osteootohepatoenteric Syndrome	Increased serum bile acid concentration, Hypokalemia, Dehydration, Failure to thrive, Weight loss	OMIM:619377
Pemphigus Vulgaris	Pain, Weight loss	ORPHA:704
Bullous Pemphigoid	Weight loss	ORPHA:703
Arima Syndrome	Optic atrophy, Tachypnea, Ataxia, Dyspnea	OMIM:243910
Immunodeficiency 82 With Systemic Inflammation	Spinal cord granuloma, Elevated circulating C-reactive protein concentration, Bronchitis, Bronchi...	OMIM:619381
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Muscular dystrophy, Increased endomysial connective tissue, Flexion contracture	OMIM:613154
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyperkalemia, Dehydration, Hypotension, Hypovolemia, Hypochloremia, Hyponatremia, Failure to thri...	ORPHA:90794
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased body weight, Abnormality...	ORPHA:2298
Hereditary Sensory And Autonomic Neuropathy Type 4	Distal sensory impairment, Impaired temperature sensation, Hyperesthesia, Abnormality of the auto...	ORPHA:642
Pallister-Killian Syndrome	Congenital diaphragmatic hernia, Stillbirth, Hyperventilation, Camptodactyly of 2nd-5th fingers, ...	OMIM:601803
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Hyperuricemia, Hypertension, Hypotension, Cerebral cortical atrophy, Elevated circulating creatin...	OMIM:174000
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis	OMIM:226100
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Joint swelling, Flexion contracture, Weight loss	ORPHA:85408
Ppoma	Gastrointestinal hemorrhage, Hypercalcemia, Ascites, Weight loss	ORPHA:97278
Grfoma	Gastrointestinal hemorrhage, Ascites, Neoplasm of the lung, Hypercalcemia, Weight loss	ORPHA:97261
Pituitary Apoplexy	Hyponatremia, Hypertension, Hypotension	ORPHA:95613
Cornelia De Lange Syndrome	Congenital diaphragmatic hernia, Increased nuchal translucency, Cerebral cortical atrophy, Failur...	ORPHA:199
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Congenital diaphragmatic hernia, Elbow flexion contracture	OMIM:618022
Igg4-Related Dacryoadenitis And Sialadenitis	Palpebral edema, Optic nerve compression, Myositis, Weight loss, Abnormality of the extraocular m...	ORPHA:79078
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hand tremor, Small for gestational age, Weight loss	ORPHA:424
Goodpasture Syndrome	Reticular pattern on pulmonary HRCT, Hemosiderin-laden macrophages in bronchoalveolar fluid, Bloo...	OMIM:233450
Iniencephaly	Congenital diaphragmatic hernia, Syringomyelia, Polyhydramnios, Spina bifida, Spinal dysraphism, ...	ORPHA:63259
Short Syndrome	Weight loss	ORPHA:3163
Somatostatinoma	Gastrointestinal hemorrhage, Hypercalcemia, Ascites, Weight loss	ORPHA:97283
Acrodermatitis Enteropathica	Cerebral cortical atrophy, Failure to thrive, Weight loss	ORPHA:37
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Aspiration pneumonia, Failure to thrive, Weight loss, Tracheobronchial leiomyomatosis, Recurrent ...	ORPHA:1018
Craniorachischisis	Congenital diaphragmatic hernia, Spinal dysraphism, Cervical spina bifida	ORPHA:63260
Acrorenal-Mandibular Syndrome	Pulmonary hypoplasia, Elbow flexion contracture, Oligohydramnios, Congenital diaphragmatic hernia	OMIM:200980
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Recurrent respiratory infections, Spina bifida occulta, Tetralog...	OMIM:135900
Glucagonoma	Gastrointestinal hemorrhage, Hypercalcemia, Ascites, Weight loss	ORPHA:97280
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Acute Liver Failure	Gastrointestinal hemorrhage, Hepatic periportal necrosis, Hypotension, Hepatocellular necrosis, H...	ORPHA:90062
Non-Functioning Pituitary Adenoma	Hypotension	ORPHA:91349
Craniofrontonasal Syndrome	Congenital diaphragmatic hernia	OMIM:304110
Familial Pancreatic Carcinoma	Abdominal pain, Chronic fatigue, Weight loss, Back pain	ORPHA:1333
Woodhouse-Sakati Syndrome	Hyperlipidemia, Abnormal T-wave	OMIM:241080
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal tubular epithelial necrosis, Elevated circulating C-reactive protein concentration, Cystoid...	ORPHA:91500
Prolactinoma	Hypotension	ORPHA:2965
Familial Gestational Hyperthyroidism	Hand tremor, Weight loss	ORPHA:99819
Diaphragmatic Hernia 2	Congenital diaphragmatic hernia, Agenesis of the diaphragm	OMIM:222400
Woodhouse-Sakati Syndrome	Hyperlipidemia, Abnormal T-wave	ORPHA:3464
Zollinger-Ellison Syndrome	Hypercalcemia, Gastrointestinal hemorrhage, Hematochezia, Weight loss	ORPHA:913
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Hypoventilation, Optic nerve hypoplasia, Hirsutism, Synophrys, Failure to thrive, Neurodegeneration	OMIM:620455
Systemic Lupus Erythematosus	Chorea, Fatigue, Malaise, Weight loss	ORPHA:536
Malt Lymphoma	Abdominal pain, Fatigue, Weight loss	ORPHA:52417
C Syndrome	Congenital diaphragmatic hernia, Failure to thrive in infancy, Polyhydramnios, Aplasia/Hypoplasia...	ORPHA:1308
Witteveen-Kolk Syndrome	Congenital diaphragmatic hernia, Polyhydramnios, Obesity, Intracranial hemorrhage, Small for gest...	OMIM:613406
Pancreatic Triacylglycerol Lipase Deficiency	Abdominal pain, Fatigue, Weight loss	ORPHA:309031
Focal Dermal Hypoplasia	Optic atrophy, Congenital diaphragmatic hernia, Spina bifida occulta, Diastasis recti, Telangiect...	OMIM:305600
Distal Renal Tubular Acidosis	Paralysis	ORPHA:18
Vipoma	Hypokalemia, Dehydration, Ascites, Hypercalcemia, Weight loss	ORPHA:97282
Pancreatoblastoma	Abdominal pain, Weight loss	ORPHA:677
Monosomy 9P	Congenital diaphragmatic hernia	ORPHA:261112
Primary Fanconi Renotubular Syndrome	Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat...	ORPHA:3337
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hypoventilation, Impaired pain sensation, Abnormal autonomic nervous system physiology, Obesity, ...	ORPHA:293987
Tetraamelia Syndrome 1	Congenital diaphragmatic hernia, Pulmonary hypoplasia, Peripheral pulmonary vessel aplasia	OMIM:273395
Tropical Pancreatitis	Epigastric pain, Weight loss	ORPHA:103918
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Recurrent respiratory infections, Weight loss, Elevated circulating C-reactive protein concentration	OMIM:301074
Osteopetrosis, Autosomal Recessive 3	Periodic hypokalemic paresis	OMIM:259730
Microphthalmia, Syndromic 2	Contracture of the proximal interphalangeal joint of the 2nd toe, Decreased body weight, Flexion ...	OMIM:300166
Pineoblastoma	Paralysis	ORPHA:251909
Combined Pituitary Hormone Deficiencies, Genetic Forms	Optic nerve hypoplasia, Hypotension, Septo-optic dysplasia	ORPHA:95494
Non-Acquired Panhypopituitarism	Hypotension	ORPHA:90695

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 Ighmbp2

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Ighmbp2.

No publications found that use IMPC mice or data for Ighmbp2.

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MGI Allele	Allele Type	Produced
Ighmbp2^em1(IMPC)Tcp	Exon Deletion	Mice, Tissue
Ighmbp2^{tm46207(L1L2_gt1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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