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Gene: Ighmbp2 MGI:99954

Gene Summary

Name:

immunoglobulin mu DNA binding protein 2

Synonyms:

Smbp-2, RIPE3b1, sma, Smbp2, p110 subunit, Smubp2, Catf1, 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
abnormal skin morphology	Ighmbp2^em1(IMPC)Tcp	HET	Late adult	0.00
enlarged kidney	Ighmbp2^em1(IMPC)Tcp	HET	Late adult	0.00
decreased bone mineral content	Ighmbp2^em1(IMPC)Tcp	HET	Early adult	5.30×10^-05
preweaning lethality, complete penetrance	Ighmbp2^em1(IMPC)Tcp	HOM	Early adult	0.00
cataract	Ighmbp2^em1(IMPC)Tcp	HET	Late adult	9.31×10^-06

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Eye Morphology

Images Ophthalmoscopy

175 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Histopathology

Images

23 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

5 Images

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Eye Morphology

Images Slit Lamp

6 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Gross Pathology and Tissue Collection

Images

6 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Combined SHIRPA and Dysmorphology

Images

3 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Electrocardiogram (ECG)

Waveform Image

2 Images

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Histopathology

Images

1 Images

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Immunophenotyping

Panel A FCS file(s)

2 Images

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Immunophenotyping

Panel B 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 (2152 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		Small for gestational age, Spinal muscular atrophy, Camptodactyly of finger, Decreased nerve cond...	OMIM:604320
Charcot-Marie-Tooth Disease, Axonal, Type 2S		Axonal degeneration, Distal sensory impairment, Upper limb muscle weakness, Lower limb muscle wea...	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 motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi...	OMIM:601098
Charcot-Marie-Tooth Disease, Dominant Intermediate C	Decreased motor nerve conduction velocity, Hand muscle weakness, Distal sensory impairment, Upper...	OMIM:608323
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Impaired vibratory sensation, Decreased motor nerve conduction velocity, Impaired temperature sen...	DECIPHER:29
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Distal lower limb amyotrophy, Foot dorsiflexor weakness, Failure to thrive in infancy, Decreased ...	ORPHA:90103
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:118210
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Peripheral ax...	OMIM:607706
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Elevated circulating creatine kinase concentration, First degree atrioventricular block, Peroneal...	OMIM:181350
Danon Disease	Myocardial necrosis, Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concent...	OMIM:300257
Charcot-Marie-Tooth Disease Type 2B1	Decreased motor nerve conduction velocity, Hand muscle atrophy, Peroneal muscle atrophy, Hand mus...	ORPHA:98856
Charcot-Marie-Tooth Disease, Type 4J	Decreased motor nerve conduction velocity, Ankle flexion contracture, Decreased nerve conduction ...	OMIM:611228
Hereditary Liability to Pressure Palsies (HNPP)	Motor conduction block	DECIPHER:31
Amyotrophic Lateral Sclerosis 11	Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Somatic sensory dysfunction, ...	OMIM:612577
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Muscle fiber hyaline bodies, Elevated circulating creatine kinase concentra...	OMIM:255160
Charcot-Marie-Tooth Disease, Axonal, Type 2N	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Distal lower limb amyotrophy,...	OMIM:613287
Congenital Myopathy 5 With Cardiomyopathy	Elevated circulating creatine kinase concentration, Sudden cardiac death, Centrally nucleated ske...	OMIM:611705
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Proximal muscle weakness...	OMIM:620068
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta...	OMIM:612999
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration/re...	OMIM:614436
Chronic Inflammatory Demyelinating Polyneuropathy	Somatic sensory dysfunction, Hand muscle weakness, Decreased nerve conduction velocity, Segmental...	ORPHA:2932
Charcot-Marie-Tooth Disease, Axonal, Type 2B2	Decreased motor nerve conduction velocity, Distal amyotrophy, Distal sensory impairment	OMIM:605589
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Giant Axonal Neuropathy 2, Autosomal Dominant	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Impaired distal vibratio...	OMIM:610100
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ...	OMIM:608099
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2	Decreased motor nerve conduction velocity, Distal sensory impairment, Upper limb muscle weakness,...	OMIM:302801
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Dista...	OMIM:608673
Charcot-Marie-Tooth Disease, Axonal, Type 2Y	Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Impaired dist...	OMIM:616687
Polyglucosan Body Myopathy 2	Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we...	OMIM:616199
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paralysis, Distal amyotrophy, Difficulty walking, Vocal cord paresis	OMIM:158580
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Facial palsy, Polyhydramnios, Respiratory insufficiency due to muscle weakn...	OMIM:300580
Myopathy, Distal, 1	Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Left atrial enlargement,...	OMIM:160500
Charcot-Marie-Tooth Disease, Type 4H	Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Small hypothenar eminenc...	OMIM:609311
Cardiomyopathy, Dilated, 1X	Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati...	OMIM:611615
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8	Impaired vibratory sensation, Decreased motor nerve conduction velocity, Impaired pain sensation,...	OMIM:618912
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Calf muscle pseudohypertrophy, Scapular winging, Reduced vital capacity, Centrally nucleated skel...	OMIM:608358
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, First degree atrioventricular block, Cardiomegaly, Atrioventricular block, ...	OMIM:115197
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ...	OMIM:302045
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Tachypnea, Atrioventricular block, Right ventricular dilatat...	ORPHA:99106
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:605588
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Charcot-Marie-Tooth Disease, Axonal, Type 2F	Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Claw hand deformity, Upp...	OMIM:606595
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Peripheral axonal degeneration, Skeletal muscle atrophy, Impaired distal proprioception, Hand mus...	ORPHA:101097
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12	Decreased motor nerve conduction velocity, Peroneal muscle weakness, Peroneal muscle atrophy, The...	OMIM:614751
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Autosomal Recessive Spastic Paraplegia Type 43	Impaired vibratory sensation, Ankle flexion contracture, Babinski sign, Knee flexion contracture,...	ORPHA:320370
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Scapular winging, Elevated circulating creatine kinase concentration, Reduced muscle fiber alpha ...	ORPHA:206559
Distal Hereditary Motor Neuropathy Type 5	Impaired vibratory sensation, Abnormal motor nerve conduction velocity, Thenar muscle atrophy, Th...	ORPHA:139536
Charcot-Marie-Tooth Disease, Type 4A	Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe...	OMIM:214400
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant	Waddling gait, Spinal muscular atrophy, Type 2 muscle fiber predominance, Proximal muscle weaknes...	OMIM:158600
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 29	Cataract	OMIM:115800
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Peripheral axonal degene...	OMIM:302800
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Caudate atrophy, Respiratory insufficienc...	OMIM:617892
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Elevated circulating creatine kinase concentration, Centrally nucleated ske...	ORPHA:86812
Neuropathy, Hereditary, With Liability To Pressure Palsies	Decreased motor nerve conduction velocity, Hand muscle weakness, Segmental peripheral demyelinati...	OMIM:162500
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Elevated circulating creatine kinase concentration, Respiratory insufficiency due to muscle weakn...	OMIM:300718
Myopathy, Myofibrillar, 1	Facial palsy, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, Hypertrop...	OMIM:601419
Hereditary Myopathy With Early Respiratory Failure	Orthopnea, Reduced vital capacity, Skeletal muscle atrophy, Internally nucleated skeletal muscle ...	ORPHA:178464
Cardiomyopathy, Dilated, 1Gg	Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ...	OMIM:613642
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Decreased motor nerve conduction velocity, Upper limb muscle weakness, Distal amyotrophy, Periphe...	OMIM:605253
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr...	OMIM:601382
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental...	OMIM:606482
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff	Distal lower limb amyotrophy, Decreased compound muscle action potential amplitude, Impaired dist...	OMIM:619519
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Cataract 4, Multiple Types	Developmental cataract	OMIM:115700
Cataract 45	Developmental cataract	OMIM:616851
Cataract 38	Developmental cataract	OMIM:614691
Cataract 13 With Adult I Phenotype	Developmental cataract	OMIM:116700
Cataract 37	Developmental cataract	OMIM:614422
Nonaka Myopathy	Distal amyotrophy, Gait disturbance, EMG: myopathic abnormalities, Distal lower limb muscle weakn...	OMIM:605820
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased number of large...	OMIM:615376
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Elevated circulati...	OMIM:604286
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Somatic sensory dysfunct...	OMIM:600882
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:609260
Cirrhotic Cardiomyopathy	Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Abnorma...	ORPHA:57777
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Impaired vibratory sensation, Decreased motor nerve conduction velocity, Cerebellar atrophy, Decr...	OMIM:607250
Hereditary Motor And Sensory Neuropathy V	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal sensory impairmen...	OMIM:600361
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:607734
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2	Decreased motor nerve conduction velocity, Claw hand deformity, Spinal muscular atrophy, Decrease...	OMIM:605726
Adult-Onset Nemaline Myopathy	Reduced vital capacity, Respiratory insufficiency due to muscle weakness, Flexion contracture, In...	ORPHA:171442
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Decreased motor nerve conduction velocity, Hand muscle atrophy, Onion bulb formation, Decreased d...	OMIM:607684
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ac...	OMIM:300696
Slowed Nerve Conduction Velocity, Autosomal Dominant	Decreased nerve conduction velocity	OMIM:608236
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur...	ORPHA:60041
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle...	OMIM:618655
Myopathy, Distal, Tateyama Type	Elevated circulating creatine kinase concentration, Hand muscle weakness, Centrally nucleated ske...	OMIM:614321
Congenital Myopathy 4A, Autosomal Dominant	Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Reduced forced ...	OMIM:255310
Cardiomyopathy, Dilated, 1L	Increased left ventricular end-diastolic volume, Reduced systolic function, Elevated circulating ...	OMIM:606685
Triose Phosphate-Isomerase Deficiency	Decreased nerve conduction velocity, Skeletal muscle atrophy, Central nervous system degeneration	ORPHA:868
X-Linked Charcot-Marie-Tooth Disease Type 6	Distal lower limb amyotrophy, Thenar muscle atrophy, Decreased nerve conduction velocity, Impaire...	ORPHA:352675
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal musc...	ORPHA:266
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased distal sensory ...	ORPHA:206594
Spinal Muscular Atrophy, Type Iv	Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ...	OMIM:271150
Congenital Myopathy 2A, Typical, Autosomal Dominant	Facial palsy, Polyhydramnios, Respiratory insufficiency due to muscle weakness, Dilated cardiomyo...	OMIM:161800
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J	Decreased motor nerve conduction velocity, Thenar muscle atrophy, Distal sensory impairment	OMIM:620111
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	Decreased nerve conduction velocity, Paraparesis, Distal sensory impairment, Upper limb muscle we...	OMIM:302802
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Congestive heart failure, Abnormal pulmonary interstitial mo...	ORPHA:330001
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Prolonged QRS complex, Apnea, Cardiomegaly, Pericardial effusion, Shortened...	OMIM:261740
Paraparetic Variant Of Guillain-Barré Syndrome	Peripheral axonal neuropathy, Impaired distal proprioception, Paraparesis, Pain, Sciatica, Periph...	ORPHA:231445
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Elevated circulating creatine kinase concentration, Reduced muscle fiber alpha dystroglycan, Dila...	ORPHA:34515
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Myopathy, Limb-girdle...	OMIM:612937
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Elevated circulating creatine kinase concentration, Quadriceps muscle weakness, Congestive heart ...	ORPHA:206546
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Hand muscle atrophy, Skeletal muscle atrophy, Decreased nerve conduction velocity, Distal sensory...	ORPHA:99944
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P...	OMIM:613954
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Tremor, Inability to walk, Ragged-red muscle fibers, Inc...	ORPHA:276435
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D	Decreased motor nerve conduction velocity, Upper limb muscle weakness, Distal amyotrophy, Foot do...	OMIM:607678
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Respiratory failure requiring assisted ventilation, Nemaline bodies, Increased variability in mus...	OMIM:620265
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6	Decreased motor nerve conduction velocity, Lower limb muscle weakness, Spinal muscular atrophy, W...	OMIM:615575
Sandhoff Disease, Adult Form	Tremor, Gait ataxia, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Focal d...	ORPHA:309169
Cardiomyopathy, Dilated, 1M	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:607482
Neuropathy, Hereditary Motor And Sensory, Russe Type	Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Claw hand deformity, Dec...	OMIM:605285
Macular Degeneration, Age-Related, 3	Decreased nerve conduction velocity, Peripheral axonal neuropathy, Distal amyotrophy, Distal sens...	OMIM:608895
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Amyotrophic lateral sclerosis, Elevated circulating creatine kinase concentration, Fatty replacem...	ORPHA:52430
Charcot-Marie-Tooth Disease Type 4A	Impaired pain sensation, Impaired distal proprioception, Decreased nerve conduction velocity, Han...	ORPHA:99948
Muscular Dystrophy, Becker Type	Abnormal EKG, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentration, ...	OMIM:300376
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e...	OMIM:619897
Dpm3-Cdg	Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weaknes...	ORPHA:263494
Charcot-Marie-Tooth Disease Type 1B	Skeletal muscle atrophy, Somatic sensory dysfunction, Peripheral axonal neuropathy, Decreased ner...	ORPHA:101082
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Thenar muscle atrophy, Dilated cardiomyopathy, Distal lower limb muscle weakness, Interosseus mus...	OMIM:619903
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Peripheral axonal...	ORPHA:435387
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Hand muscle weakness, Resp...	OMIM:606070
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Distal lower limb muscle weakness, Difficulty walking, Paralysis	OMIM:608634
Trigeminal Neuralgia	Somatic sensory dysfunction, Trigeminal neuralgia, Ocular pain, Cranial nerve compression, Parest...	ORPHA:221091
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant	Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti...	OMIM:616040
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Clumsiness, Myopathy, Di...	ORPHA:603
Welander Distal Myopathy	Distal amyotrophy, Steppage gait, Rimmed vacuoles	OMIM:604454
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E	Somatic sensory dysfunction, Peripheral axonal neuropathy, Decreased nerve conduction velocity, U...	ORPHA:99939
Mitochondrial Dna Depletion Syndrome 11	Cerebellar atrophy, Facial palsy, Elevated circulating creatine kinase concentration, Dyspnea, Ra...	OMIM:615084
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hyperalaninemia, Apnea, Congestive heart failure, Bradycardia, Brain atr...	OMIM:619048
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph...	OMIM:601596
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,...	OMIM:619566
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Myopathy, Centronuclear, 5	Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Respiratory ...	OMIM:615959
Myopathy, Myofibrillar, 3	Elevated circulating creatine kinase concentration, Achilles tendon contracture, Cardiomyopathy, ...	OMIM:609200
Familial Isolated Restrictive Cardiomyopathy	Orthopnea, Recurrent respiratory infections, Atrial fibrillation, Tricuspid regurgitation, Left a...	ORPHA:75249
Neuropathy, Congenital Hypomyelinating, 2	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased number of periphera...	OMIM:618184
Cochleosaccular Degeneration With Progressive Cataracts	Progressive cataract	OMIM:120040
Peripartum Cardiomyopathy	Crackles, Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilat...	ORPHA:563
Spinal Muscular Atrophy, Type Iii	Pelvic girdle amyotrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cel...	OMIM:253400
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Skeletal muscle atrophy, Reduced systolic function, Elevated circulating creatine kinase concentr...	OMIM:616827
Cardiomyopathy, Dilated, 2A	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:611880
X-Linked Charcot-Marie-Tooth Disease Type 3	Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Somatic sensory dysfunct...	ORPHA:101077
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P...	OMIM:105550
Ravine Syndrome	Apnea, Ataxia, Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem,...	ORPHA:99852
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Cardiomegaly, Pericardial effusion, Optic atrophy, Hyperammonemia, Hyp...	OMIM:614702
Charcot-Marie-Tooth Disease Type 1A	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Sensory ataxia, Distal sensor...	ORPHA:101081
Mitochondrial Myopathy With Diabetes	Ataxia, Facial palsy, Ragged-red muscle fibers, Babinski sign, Limb muscle weakness, Proximal amy...	OMIM:500002
Muscle Filaminopathy	Extremely elevated creatine kinase, Scapular winging, Fatty replacement of skeletal muscle, Left ...	ORPHA:171445
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong...	OMIM:604765
Congenital Myopathy 24	Scapular winging, Reduced vital capacity, Facial palsy, First degree atrioventricular block, Card...	OMIM:617336
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Impaired pain sensation, Tremor, Paraparesis, Optic atrophy, Skeletal muscle hypertrophy,...	ORPHA:99014
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Respiratory insufficiency due to muscle weakn...	ORPHA:399058
Roussy-Levy Hereditary Areflexic Dystasia	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:180800
Charcot-Marie-Tooth Disease, Type 4B3	Skeletal muscle atrophy, Onion bulb formation, Decreased nerve conduction velocity, Distal sensor...	OMIM:615284
Charcot-Marie-Tooth Disease, Recessive Intermediate B	Decreased compound muscle action potential amplitude, Vestibular schwannoma, Foot dorsiflexor wea...	OMIM:613641
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson...	ORPHA:275872
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card...	OMIM:605362
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Peripheral axonal degeneration, Skeletal muscle atrophy, Tremor, Dysmetria, Gait ataxia, Ataxia, ...	OMIM:615157
Charcot-Marie-Tooth Disease Type 4G	Impaired vibratory sensation, Decreased motor nerve conduction velocity, Peripheral axonal neurop...	ORPHA:99953
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter...	OMIM:108900
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ...	OMIM:618848
Congenital Myopathy 14	Hip contracture, Apnea, Respiratory insufficiency due to muscle weakness, Flexion contracture, El...	OMIM:618414
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Proxima...	OMIM:604484
Cardiomyopathy, Dilated, 1W	Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila...	OMIM:611407
Cardiomyopathy, Dilated, 1Cc	Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila...	OMIM:613122
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13	Distal lower limb amyotrophy, Decreased compound muscle action potential amplitude, Distal lower ...	OMIM:619112
Leukodystrophy, Hypomyelinating, 18	Cerebellar atrophy, Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity...	OMIM:618404
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm...	ORPHA:168796
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Cerebellar atrophy, Decreased mitochondrial number, Elevated circulating creatine kinase concentr...	ORPHA:352447
Emery-Dreifuss Muscular Dystrophy	Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp...	ORPHA:98853
Proximal Myopathy With Extrapyramidal Signs	Centrally nucleated skeletal muscle fibers, Optic atrophy, Cardiomyopathy, Increased variability ...	ORPHA:401768
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Decreased n...	OMIM:618138
Cardiomyopathy, Dilated, 1Ff	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy...	OMIM:613286
Congenital Myopathy 8	Reduced vital capacity, Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive hea...	OMIM:618654
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c...	OMIM:613172
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased number of periphera...	OMIM:614895
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp...	ORPHA:98855
Inclusion Body Myositis	Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red...	ORPHA:611
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Congestive heart failure, Dyspnea, Dilated cardi...	OMIM:612877
Complex Regional Pain Syndrome	Somatic sensory dysfunction, Involuntary movements, Dysesthesia, Limb pain, Trophic changes relat...	ORPHA:83452
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Facial palsy, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Elevated ci...	OMIM:619424
Distal Myopathy With Posterior Leg And Anterior Hand Involvement	Respiratory insufficiency due to muscle weakness, Intrinsic hand muscle atrophy, Cardiomyopathy, ...	ORPHA:63273
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Decreased nerve conduction velocity, Skeletal muscle atrophy, Ataxia	OMIM:183050
Amyotrophic Lateral Sclerosis 19	Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis	OMIM:615515
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ...	OMIM:616812
Ataxia-Deafness-Intellectual Disability Syndrome	Decreased nerve conduction velocity, Skeletal muscle atrophy, Ataxia, Cerebral cortical atrophy	ORPHA:1188
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Exercise Intolerance, Riboflavin-Responsive	Ragged-red muscle fibers	OMIM:616839
Polymyositis	Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar...	ORPHA:732
X-Linked Charcot-Marie-Tooth Disease Type 4	Decreased nerve conduction velocity, Skeletal muscle atrophy, Ataxia, Impaired pain sensation	ORPHA:101078
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler...	OMIM:602433
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia	ORPHA:1216
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Ventricular septal defect, Apnea, Respiratory failure, Bradycardia, Brain atrophy, Atrophy/Degene...	OMIM:616277
Hereditary Neuropathy With Liability To Pressure Palsies	Decreased motor nerve conduction velocity	ORPHA:640
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Cryptorchidism, Dilated cardiomyopathy, Flexion contracture, Hydrops fetalis, Bradycardia, Hypert...	OMIM:618815
Systemic Capillary Leak Syndrome	Pericarditis, Pulmonary edema, Myocarditis, Cardiorespiratory arrest, Weight loss, Pedal edema, P...	ORPHA:188
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Elbow contracture, Ankle contracture, Elevated circulating creatine kinase conce...	OMIM:620386
Myopathy, Sarcoplasmic Body	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ...	OMIM:620286
Amyotrophic Lateral Sclerosis 5, Juvenile	Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis, Abnormal lower m...	OMIM:602099
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Distal amyotrophy, Fiber type grouping	OMIM:614369
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:607831
Spinal Muscular Atrophy, X-Linked 2	Multiple joint contractures, Facial palsy, Spinal muscular atrophy, Respiratory insufficiency due...	OMIM:301830
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ...	OMIM:613252
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Calf muscle pseudohypertrophy, Hypoventilation, Elevated circulating creatine kinas...	OMIM:310200
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Skeletal muscle atrophy, Foot joint contracture, Decreased nerve conduction velocity, Optic atrop...	ORPHA:457205
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu...	ORPHA:59135
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Skeletal muscle atrophy, Progressive distal muscular atrophy, Facial palsy, Spinal muscular atrop...	OMIM:159950
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Decreased forced expiratory flow 25-75%, Camptodactyly of finger, Ankle flexion contracture, Cent...	OMIM:617072
X-Linked Charcot-Marie-Tooth Disease Type 1	Distal lower limb amyotrophy, Ataxia, Impaired pain sensation, Distal upper limb amyotrophy, Abno...	ORPHA:101075
Nemaline Myopathy 2	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Apnea, Slender build, Thenar muscle atrop...	OMIM:256030
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:118220
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Small for gestational age, Spinal muscular atrophy, Camptodactyly of finger, Decreased nerve cond...	OMIM:604320
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection...	ORPHA:66529
Absence Of The Pulmonary Artery	Cardiomegaly, Nonproductive cough, Pedal edema, Atrial septal defect, Patent foramen ovale, Abnor...	ORPHA:980
Myopathy, Myofibrillar, 5	Waddling gait, Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber s...	OMIM:609524
Cardiomyopathy, Dilated, 1Jj	Reduced left ventricular ejection fraction, Dilated cardiomyopathy	OMIM:615235
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Patent ductus arteriosus, Respiratory insufficiency, Hypoplastic left ...	OMIM:616276
Parkinsonism With Polyneuropathy	Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ...	OMIM:619279
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Respiratory insufficiency, Distal amyotrophy, Type 1 muscle fiber predominance, ...	OMIM:619042
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Recurrent respiratory infections, Right axis deviation, Increased...	OMIM:232300
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Elevated circulating c...	OMIM:254110
Inclusion Body Myopathy And Brain White Matter Abnormalities	Proximal muscle weakness in upper limbs, Scapular winging, Elevated circulating creatine kinase c...	OMIM:619733
Spinocerebellar Ataxia 48	Cerebellar atrophy, Ataxia, Urinary incontinence, Cachexia, Parkinsonism, Tremor, Chorea, Babinsk...	OMIM:618093
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Respiratory failure, Apnea, Muscular dystrophy, Respiratory insufficiency	OMIM:613869
Hydrops Fetalis	Small for gestational age, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial eff...	ORPHA:1041
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Skeletal muscle atrophy, Nonimmune hydrops fetalis, Portal hypertension, Po...	ORPHA:367
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Dilated cardiomyopathy, Arrhythmia, Hypertrophic cardiomyopathy, Failur...	OMIM:616198
Spastic Paraplegia 17, Autosomal Dominant	Decreased motor nerve conduction velocity, Impaired distal proprioception, Thenar muscle atrophy,...	OMIM:270685
Mitochondrial Complex I Deficiency, Nuclear Type 6	Skeletal muscle atrophy, Optic disc pallor, Apnea, Ataxia, Optic atrophy, Respiratory insufficien...	OMIM:618228
Early-Onset X-Linked Optic Atrophy	Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Choreoathetos...	ORPHA:98890
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ...	ORPHA:206549
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Mitochondrial Dna Depletion Syndrome 18	Hand muscle atrophy, Clonus, Axonal degeneration, Distal amyotrophy, Tongue fasciculations, Weakn...	OMIM:618811
Myasthenic Syndrome, Congenital, 17	Difficulty walking, Type 1 muscle fiber predominance	OMIM:616304
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Glycogen Storage Disease Due To Lamp-2 Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiorespiratory arrest	ORPHA:34587
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr...	OMIM:601494
Childhood-Onset Nemaline Myopathy	Scapular winging, Reduced vital capacity, Polyhydramnios, Respiratory insufficiency due to muscle...	ORPHA:171439
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Fatty replacement of...	OMIM:608807
Sensorineural Deafness With Dilated Cardiomyopathy	Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy	ORPHA:217622
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,...	OMIM:602087
Spinal Muscular Atrophy, Type Ii	Degeneration of anterior horn cells, Skeletal muscle atrophy, Spinal muscular atrophy, Hand tremor	OMIM:253550
Anterior Cutaneous Nerve Entrapment Syndrome	Back pain, Somatic sensory dysfunction, Abdominal pain, Impaired tactile sensation, Hyperesthesia...	ORPHA:51890
Charcot-Marie-Tooth Disease And Deafness	Decreased motor nerve conduction velocity, Thenar muscle atrophy, Thenar muscle weakness, Distal ...	OMIM:118300
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Increased serum pyruvate, Congestive heart failure, Dyspnea, Dilated cardiomyopathy, Ragged-red m...	ORPHA:1349
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Optic atrophy, Left ventri...	OMIM:252011
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Amyotrophic lateral sc...	OMIM:612069
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P...	ORPHA:542306
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morph...	ORPHA:1145
Noonan Syndrome 8	Failure to thrive, Ventricular septal defect, Polyhydramnios, Large for gestational age, Cryptorc...	OMIM:615355
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart	ORPHA:3283
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Skeletal muscle atrophy, Peripheral axonal neuropathy, Axonal degeneration, Diaphragmatic paralys...	OMIM:620011
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Peripheral axonal degeneration, Cerebellar atrophy, Ataxia, Decreased number of large peripheral ...	OMIM:208920
Familial Isolated Dilated Cardiomyopathy	Myopathy, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	ORPHA:154
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Skeletal muscle atrophy, Absent P wave, First degree atrioventricular block, Sudden cardiac death...	OMIM:310300
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Cataract	ORPHA:79281
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary hyp...	OMIM:614096
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:118200
Cardiomyopathy, Dilated, 1Hh	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy	OMIM:613881
Pontocerebellar Hypoplasia Type 1	Skeletal muscle atrophy, Ataxia, Optic atrophy, Congenital laryngeal stridor, Degeneration of ant...	ORPHA:2254
Riboflavin Transporter Deficiency	Skeletal muscle atrophy, Optic disc pallor, Ataxia, Facial palsy, Cachexia, Tremor, Abnormal auto...	ORPHA:97229
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Episodic tachypnea, Elevated circulating creatine kinase concentration, Tac...	ORPHA:26793
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P...	OMIM:601954
Coenzyme Q10 Deficiency, Primary, 5	Cerebellar atrophy, Cerebral atrophy, Respiratory insufficiency, Bradycardia, Left ventricular hy...	OMIM:614654
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria...	OMIM:616201
Muscular Dystrophy, Cardiac Type	Cardiomyopathy, Abnormal EKG, Muscular dystrophy, Elevated circulating creatine kinase concentration	OMIM:309930
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Respiratory in...	OMIM:608423
Roussy-Lévy Syndrome	Impaired vibratory sensation, Decreased motor nerve conduction velocity, Somatic sensory dysfunct...	ORPHA:3115
Pontocerebellar Hypoplasia, Type 1A	Ataxia, Spinal muscular atrophy, Respiratory insufficiency, Hand tremor, Degeneration of anterior...	OMIM:607596
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Cardiac arrest, Elevated circulating creatine kinase concentration, Rhab...	OMIM:212138
Myopathy, Distal, 4	Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the...	OMIM:614065
Vocal Cord And Pharyngeal Distal Myopathy	Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Respiratory insuffi...	ORPHA:600
Mitochondrial Complex I Deficiency, Nuclear Type 13	Apnea, Cardiac arrest, Cerebral atrophy, Bradycardia, Hypertrophic cardiomyopathy, Failure to thrive	OMIM:618235
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Distal Nebulin Myopathy	Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m...	ORPHA:399103
Myopathy, Distal, 5	Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower...	OMIM:617030
Autosomal Recessive Spastic Paraplegia Type 57	Distal lower limb amyotrophy, Optic atrophy, Abnormality of the Achilles tendon, Abnormality of p...	ORPHA:431329
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Muscle fiber inclusion bodies, Elevated circulating creatine kinase concentration, Centrally nucl...	OMIM:615424
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Tricuspid regurgitation, Congestive heart failure, Chronic pulmonary obstru...	ORPHA:2414
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu...	OMIM:610198
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Hand muscle atrophy, Hand muscle weakness, Vocal cord paralysis, Distal amyotrophy, Weakness of f...	OMIM:607641
Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Motor neuron atrophy, Dyspnea, Abnormal r...	ORPHA:803
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ty...	OMIM:605809
Autosomal Dominant Spastic Paraplegia Type 17	Hand muscle atrophy, Abnormal motor nerve conduction velocity, Hand muscle weakness, Abnormality ...	ORPHA:100998
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Hypercholesterolemia, Increased variability in muscle fiber diamet...	ORPHA:488650
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo...	ORPHA:70589
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Reduced forced vital capacity, Overweight, Z-band str...	OMIM:619178
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Ataxia, Inability to walk, Ragged-red muscle fibers, Athetosis, Abnormality of extrapyramidal mot...	OMIM:615159
Pleural Mesothelioma	Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal car...	ORPHA:50251
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Skeletal muscle atrophy, Reduced vital capacity, Ankle flexion contracture, Centrally nucleated s...	OMIM:617760
Myopathy, Autophagic Vacuolar, Infantile-Onset	Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles, Elevated circulating creatine kinase ...	OMIM:609500
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta...	ORPHA:3282
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap...	OMIM:254210
Heart-Hand Syndrome, Slovenian Type	Myopathy, Dilated cardiomyopathy	OMIM:610140
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Hypermethionin...	OMIM:613752
Loeffler Endocarditis	Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda...	ORPHA:75566
Amyotrophic Lateral Sclerosis 20	Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy	OMIM:615426
Mitochondrial Complex I Deficiency, Nuclear Type 14	Myopathy, Optic atrophy, Apnea, Brain atrophy	OMIM:618236
Hypertrophic Neuropathy Of Dejerine-Sottas	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:145900
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Facial palsy, Camptodactyly of finger, Abnormal motor nerve conduction velo...	OMIM:614399
Autosomal Dominant Spastic Paraplegia Type 73	Distal lower limb amyotrophy, Lower limb spasticity, Urinary incontinence, Degeneration of the la...	ORPHA:444099
Myopathy, Myofibrillar, 8	Scapular winging, Reduced vital capacity, Elevated circulating creatine kinase concentration, Cen...	OMIM:617258
Charcot-Marie-Tooth Disease Type 1F	Hand muscle atrophy, Absent brainstem auditory responses, Skeletal muscle atrophy, Hand muscle we...	ORPHA:101085
Monomelic Amyotrophy	Degeneration of anterior horn cells, Distal upper limb amyotrophy, Tremor, Abnormality of periphe...	ORPHA:65684
Striatonigral Degeneration, Infantile, Mitochondrial	Incoordination, Poor motor coordination, Clonus, Chorea, Ragged-red muscle fibers, Babinski sign,...	OMIM:500003
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculat...	OMIM:181400
Charcot-Marie-Tooth Disease, Type 4D	Claw hand deformity, Abnormal auditory evoked potentials, Impaired distal proprioception, Decreas...	OMIM:601455
Myoclonus, Intractable, Neonatal	Optic disc pallor, Apnea, Chorea, Athetosis, Increased variability in muscle fiber diameter	OMIM:617235
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, Increased mito...	ORPHA:263297
Progressive Familial Heart Block, Type Ia	Sudden cardiac death, Dyspnea, Left posterior fascicular block, Right bundle branch block, Syncop...	OMIM:113900
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Respira...	OMIM:255100
Cardiomyopathy, Dilated, 2C	Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy	OMIM:618189
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG, Optic atrophy, Cardiomyopathy, Lower limb hypertonia, Generalized amyotrophy, Lower...	ORPHA:1177
Sudden Infant Death Syndrome	Apneic episodes in infancy	OMIM:272120
Spinocerebellar Ataxia, Autosomal Recessive 32	Cerebellar atrophy, Somatic sensory dysfunction, Torticollis, Limb ataxia, Gait ataxia, Atrophy/D...	OMIM:619862
Infant Acute Respiratory Distress Syndrome	Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ...	ORPHA:70587
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:615490
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo...	ORPHA:98912
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Acute Interstitial Pneumonia	Crackles, Elevated circulating C-reactive protein concentration, Nodular pattern on pulmonary HRC...	ORPHA:79126
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Central apnea, Cerebellar atrophy, Low anterior hairline, Cerebral atrophy, Dysmetria, Gait ataxi...	ORPHA:320385
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Respiratory insufficiency due to muscle weakness, Flexion contracture, Respiratory failure, Incre...	OMIM:300717
X-Linked Emery-Dreifuss Muscular Dystrophy	Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp...	ORPHA:98863
Hemochromatosis, Type 1	Cardiomegaly, Congestive heart failure, Increased circulating ferritin concentration, Telangiecta...	OMIM:235200
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Cachexia, Abdominal pain, Hypoesthesia, Ragged-red muscle fibers, Distal sensory impairment, Weig...	OMIM:603041
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ...	ORPHA:34516
Muscular Dystrophy, Congenital, Megaconial Type	Facial palsy, Elevated circulating creatine kinase concentration, Mitochondrial hypertrophy, Dila...	OMIM:602541
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Recurrent respiratory infections, Facial palsy, Polyhydramnios, Centrall...	OMIM:255320
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Ataxia, Cachexia, Abdominal pain, Ragged-red muscle fibers, Weight loss, Slender build	OMIM:613662
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria, Cataract	OMIM:619813
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract	Failure to thrive, Apneic episodes in infancy, Flexion contracture, Cerebral atrophy	ORPHA:500545
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,...	OMIM:602086
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta...	OMIM:618129
Rhabdomyolysis, Susceptibility To, 1	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, R...	OMIM:620235
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Centrally nucleated skeletal muscle fibers, Cryptorchidism, Flexion co...	OMIM:618484
Mitochondrial Trifunctional Protein Deficiency 1	Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati...	OMIM:609015
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers...	OMIM:160150
Ceroid Lipofuscinosis, Neuronal, 10	Cerebellar atrophy, Apnea, Increased neuronal autofluorescent lipopigment, Ataxia, Respiratory in...	OMIM:610127
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Respiratory failure, Global brain atrophy, Respiratory insufficiency	OMIM:611722
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d...	OMIM:609115
King-Denborough Syndrome	Ventricular septal defect, Elevated circulating creatine kinase concentration, Centrally nucleate...	OMIM:619542
Amyotrophic Lateral Sclerosis 16, Juvenile	Amyotrophic lateral sclerosis, Lower limb muscle weakness, Weakness of the intrinsic hand muscles	OMIM:614373
Myasthenic Syndrome, Congenital, 14	Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged...	OMIM:616228
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Elevated circulating creatine kinase concentration, Reduced forced vital capacity, Achilles tendo...	OMIM:607155
Carvajal Syndrome	Congestive heart failure, Dilated cardiomyopathy	ORPHA:65282
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Axonal degeneration, Distal sensory impairment, Upper limb muscle weakness, Lower limb muscle wea...	OMIM:616155
Desminopathy	Sudden cardiac death, Supraventricular arrhythmia, Respiratory insufficiency due to muscle weakne...	ORPHA:98909
Null Syndrome	Ataxia, Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination, Abnormality...	ORPHA:280234
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta...	OMIM:601846
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i...	ORPHA:596
Charcot-Marie-Tooth Disease, Axonal, Type 2Z	Decreased motor nerve conduction velocity, Ataxia, Impaired distal proprioception, Impaired dista...	OMIM:616688
Nathalie Syndrome	Skeletal muscle atrophy, Abnormal EKG	OMIM:255990
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16	Waddling gait, Calf muscle pseudohypertrophy, Reduced muscle fiber alpha dystroglycan, Ankle flex...	ORPHA:280333
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i...	OMIM:608751
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Reduced vital capacity, Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture...	OMIM:603689
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Proximal amyotrophy	OMIM:608030
Barth Syndrome	Dilated cardiomyopathy, Abnormal mitochondrial morphology, Endocardial fibroelastosis	ORPHA:111
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Recurrent respiratory infections, Multiple joint contractures, Centrally nucleated skeletal muscl...	ORPHA:486815
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Ataxia, Acute rhabdomy...	OMIM:604168
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Ragged-red muscle fibers, Limb muscle weakness, Cerebral atrophy, Cardiomyopathy, Bradycardia, Ar...	OMIM:609286
Wild Type Abeta2M Amyloidosis	Dysesthesia, Decreased nerve conduction velocity, Abnormal tendon morphology, Macroglossia, Axona...	ORPHA:85446
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Heart block, Tachypnea, Elevated circulating creatinine concentration, Capillary lea...	ORPHA:542323
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Respiratory failure	OMIM:613435
Attrv122I Amyloidosis	Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr...	ORPHA:85451
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Muscular dystrophy, Bradycardi...	OMIM:614302
Familial Idiopathic Dilatation Of The Right Atrium	Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid regurgitation, A...	ORPHA:1677
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi...	OMIM:613496
Microcephaly-Cardiomyopathy	Dilated cardiomyopathy	OMIM:251220
Spastic Paraplegia 85, Autosomal Recessive	Impaired vibratory sensation, Cerebellar atrophy, Torticollis, Peripheral axonal neuropathy, Lowe...	OMIM:619686
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Myopathy, Myofibrillar, 2	Orthopnea, Elevated circulating creatine kinase concentration, Respiratory insufficiency due to m...	OMIM:608810
Cardiomyopathy, Dilated, 1K	Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm	OMIM:605582
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cerebellar atrophy, Respiratory distress, Increased serum pyruvate, Cardiac arrest, Basal ganglia...	OMIM:604377
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I...	OMIM:117000
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Impaired distal proprioceptio...	OMIM:162400
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Supraventricular arrhythmia, Optic atrophy, Cardiomyopathy, Leg muscle stiffness, Distal lower li...	ORPHA:320360
Trichomegaly	Cataract	OMIM:190330
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,...	OMIM:614022
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Left ventricular noncompaction, Increased intramy...	OMIM:617228
Autosomal Recessive Spastic Paraplegia Type 25	Lower limb pain, Paraparesis, Spastic paraplegia, Upper limb pain, Neck pain, Abnormality of peri...	ORPHA:101005
Congenital Muscular Dystrophy, Fukuyama Type	Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Dilated cardiomyopathy, Flexion...	ORPHA:272
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Pedal edema, Right ventr...	ORPHA:2041
Juvenile Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Lower limb spasticity, Ataxia, Urinary in...	ORPHA:300605
Isobutyryl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Dehydration, Pulmonic s...	ORPHA:79159
Hemochromatosis, Type 2A	Congestive heart failure, Increased circulating ferritin concentration, Dilated cardiomyopathy, C...	OMIM:602390
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Cryptorchidism,...	OMIM:618823
Alpers-Huttenlocher Syndrome	Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa...	ORPHA:726
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Amyotrophic lateral sclerosis, Distal amyotrophy	OMIM:205200
Kufor-Rakeb Syndrome	Fatigue, Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic...	OMIM:606693
Digital Extensor Muscle Aplasia-Polyneuropathy	Skeletal muscle atrophy, Camptodactyly of finger, Impaired pain sensation, Muscular dystrophy, Ab...	ORPHA:2926
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Skeletal muscle atrophy, Lower-limb joint contracture, Difficulty walking, Paralysis	OMIM:613710
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi...	ORPHA:137675
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Re...	ORPHA:238329
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Patent foramen ovale, Bradycardia	OMIM:617182
Congenital Myopathy 3 With Rigid Spine	Reduced vital capacity, Failure to thrive, Decreased body weight, Facial palsy, Centrally nucleat...	OMIM:602771
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Skeletal muscle atrophy, Amyotrophic lateral sclerosis	OMIM:205250
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Peripheral axonal neuropathy, Decreased distal sensory nerve action potential, Distal amyotrophy,...	OMIM:618400
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent duc...	OMIM:601005
Galactosemia Ii	Galactosuria, Cataract	OMIM:230200
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Central apnea, Low anterior hairline, Dysmetria, Cerebral atrophy, Gait ataxia, Hypomimic face	OMIM:615031
Myopathy, Centronuclear, 4	Abnormal circulating creatine kinase concentration, Type 1 muscle fiber predominance, Centrally n...	OMIM:614807
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati...	OMIM:615184
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Impaired vibration sensation in ...	OMIM:159550
Oculopharyngodistal Myopathy 1	Respiratory distress, Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Hypercap...	OMIM:164310
Spastic Ataxia 4, Autosomal Recessive	Spastic ataxia, Babinski sign, Optic atrophy, Limb ataxia, Gait ataxia, Lower limb hypertonia, Up...	OMIM:613672
Avian Influenza	Respiratory distress, Pneumonia, Elevated circulating creatine kinase concentration, Productive c...	ORPHA:454836
Mast Syndrome	Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Cerebral atrophy, Athetosi...	OMIM:248900
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy	OMIM:611283
Myopathy, Tubular Aggregate, 1	Flexion contracture, Respiratory insufficiency, Proximal amyotrophy, Type 2 muscle fiber atrophy,...	OMIM:160565
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle...	ORPHA:169186
Zebra Body Myopathy	Waddling gait, Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle...	ORPHA:97240
Amyotrophic Lateral Sclerosis 1	Degeneration of anterior horn cells, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Dege...	OMIM:105400
Lethal Congenital Contracture Syndrome 5	Small for gestational age, Elevated circulating creatine kinase concentration, Polyhydramnios, Ce...	OMIM:615368
Atrial Standstill 1	Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at...	OMIM:108770
Finnish Upper Limb-Onset Distal Myopathy	Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Clumsiness, Steppage gait, D...	ORPHA:399086
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Tibial Muscular Dystrophy, Tardive	EMG: myopathic abnormalities, Steppage gait, Muscular dystrophy, Rimmed vacuoles	OMIM:600334
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Achilles tendon contracture, Opt...	OMIM:612674
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Dilated cardiomyopathy, Decreased body weight	OMIM:618097
Amyotrophic Lateral Sclerosis 9	Amyotrophic lateral sclerosis, Distal amyotrophy	OMIM:611895
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Reduced forced vital capacit...	OMIM:617066
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Ventricular septal defect, Edema, Polyhydramnios, Dilated cardiomyopathy...	OMIM:607598
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, C...	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, C...	OMIM:616437
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl...	OMIM:618782
Congenital Myopathy 18	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, F...	OMIM:620246
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Impaired pain sensation, Fatty replacement of skeletal muscle, Decreased compound muscle action p...	OMIM:618279
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Distal lower limb muscle weakness, Paralysis	OMIM:158590
Congenital Myopathy 22A, Classic	Hip contracture, Scapular winging, Tricuspid regurgitation, Polyhydramnios, Centrally nucleated s...	OMIM:620351
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red...	OMIM:607459
Amyotrophic Lateral Sclerosis 8	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Postural tremor, Proximal amyotrophy, Dis...	OMIM:608627
Familial Dyskinesia And Facial Myokymia	Limb hypertonia, Dilated cardiomyopathy, Congestive heart failure, Facial myokymia	ORPHA:324588
Spastic Paraplegia 75, Autosomal Recessive	Distal lower limb amyotrophy, Cerebellar atrophy, Corpus callosum atrophy, Impaired distal vibrat...	OMIM:616680
Muscular Dystrophy, Limb-Girdle, Type 1H	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, C...	OMIM:613530
High Altitude Pulmonary Edema	Orthopnea, Tachycardia, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema	ORPHA:330012
Butyrylcholinesterase Deficiency	Apnea	OMIM:617936
Congenital Gerbode Defect	Crackles, Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaf...	ORPHA:99095
Scorpion Envenomation	Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Cardiac conducti...	ORPHA:466677
Complete Atrioventricular Septal Defect	Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem...	ORPHA:1329
Nemaline Myopathy 6	Skeletal muscle atrophy, Myopathy, Gait disturbance, Limb muscle weakness, Nemaline bodies	OMIM:609273
Charcot-Marie-Tooth Disease, Type 4B2	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:604563
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Pontocerebellar Hypoplasia Type 4	Central apnea, Respiratory failure requiring assisted ventilation, Arthrogryposis multiplex conge...	ORPHA:166063
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Elevated circulating creatine ...	OMIM:253700
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Small for gestational age, Polyhydramnios, Cardiomegaly, Flexion contr...	OMIM:616897
Cocaine Intoxication	Respiratory distress, Prolonged QRS complex, Elevated circulating creatine kinase concentration, ...	ORPHA:90068
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Right ventricular failure, Dy...	ORPHA:199241
Distal Myotilinopathy	Multiple joint contractures, Elevated circulating creatine kinase concentration, Cardiomyopathy, ...	ORPHA:98911
Cardiomyopathy, Dilated, 2B	Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr...	OMIM:614672
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P...	OMIM:115200
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Ataxia, Ragged-red muscle fibers, Myopathy, Myoclonus, Spasticity	OMIM:545000
Hereditary Continuous Muscle Fiber Activity	Ataxia, Congenital diaphragmatic hernia, Slurred speech, Type 1 muscle fiber predominance, Spasti...	ORPHA:972
Cataract-Ataxia-Deafness Syndrome	Decreased nerve conduction velocity, Ataxia	ORPHA:1368
Cataract 47	Microcornea, Cataract, Glycosuria	OMIM:612018
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ...	ORPHA:2593
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Decreased motor nerve conduction velocity, Impaired pain sensation, Distal amyotrophy, Abnormal a...	ORPHA:139578
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Limb...	OMIM:615352
Miyoshi Muscular Dystrophy 1	Distal amyotrophy, Tip-toe gait, Muscular dystrophy, Lower limb muscle weakness, Deposits immunor...	OMIM:254130
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, Apnea	OMIM:615228
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentrati...	ORPHA:353
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Elevated circulating creatine kinase concentration, Ankle flexion contracture, Rhabdomyolysis, Di...	OMIM:618120
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Waddling gait, Ragged-red muscle fibers, Lower limb amyotrophy, Babinski sign, Upper limb amyotro...	OMIM:616924
Bardet-Biedl Syndrome 18	Renal insufficiency, Cataract, Stage 5 chronic kidney disease	OMIM:615995
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ...	OMIM:612736
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Dyspnea, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetri...	OMIM:608758
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated...	OMIM:616852
Myopathy, Vacuolar, With Casq1 Aggregates	Muscle fiber calsequestrin 1-containing inclusion bodies	OMIM:616231
Developmental And Epileptic Encephalopathy 61	Optic atrophy, Apnea, Cerebral atrophy	OMIM:617933
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Al Amyloidosis	Increased circulating NT-proBNP concentration, Nonproductive cough, Xerostomia, Hypoalbuminemia, ...	ORPHA:85443
Congenital Myopathy 20	Skeletal muscle atrophy, Scapular winging, Failure to thrive, Elbow contracture, Centrally nuclea...	OMIM:620310
Adrenoleukodystrophy	Incoordination, Urinary incontinence, Bowel incontinence, Paraparesis, Spastic paraplegia, Slurre...	OMIM:300100
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Dyspnea, Respiratory insufficiency, Cardiomyopathy, Global systolic dysfunction, Limb muscle weak...	OMIM:606842
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao...	OMIM:617912
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ...	OMIM:619747
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Dystonia,...	OMIM:167320
Cap Myopathy	Reduced systolic function, Facial palsy, Central hypoventilation, Abnormal muscle fiber morpholog...	ORPHA:171881
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle...	OMIM:614954
Attrv30M Amyloidosis	Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Abnormal autonomic nervous sys...	ORPHA:85447
Nathalie Syndrome	Cataract	ORPHA:2663
Proximal Spinal Muscular Atrophy	Skeletal muscle atrophy, Neonatal respiratory distress, Multiple joint contractures, Hypoventilat...	ORPHA:70
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress, Decreased muscle mass, Flexion contracture, Acute infantile spinal muscular...	OMIM:271225
Cln3 Disease	Cerebellar atrophy, Optic atrophy, T-wave inversion, Generalized cerebral atrophy/hypoplasia, Bra...	ORPHA:228346
Alexander Disease Type I	Cerebellar atrophy, Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Palatal tremor, Failur...	ORPHA:363717
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Mitochondrial Complex I Deficiency, Nuclear Type 5	Cerebellar atrophy, Apnea, Ataxia, Optic atrophy, Respiratory insufficiency, Brain atrophy, Dysto...	OMIM:618226
Gitelman Syndrome	Prolonged QT interval, Respiratory distress, Pericardial effusion, Raynaud phenomenon, Hypomagnes...	ORPHA:358
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Eleva...	ORPHA:308552
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ...	ORPHA:45453
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational a...	ORPHA:45452
Glut1 Deficiency Syndrome 1	Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S...	OMIM:606777
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne...	ORPHA:411703
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Myopathy, Highly elevated creatine kinase, Increased variability in muscle fiber diameter, Centra...	OMIM:618992
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Sinusitis, Facial palsy, Pneumonia, Respiratory tract infection, Abnormal sp...	ORPHA:68
Spastic Paraparesis-Deafness Syndrome	Spastic paraparesis, Hemiplegia/hemiparesis, Ataxia, Impaired pain sensation	ORPHA:2815
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated creatine kinase after exercise, Sudden cardiac death, Elevated circulating acylcarnitine...	ORPHA:99901
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur...	OMIM:302060
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Pontocerebellar Hypoplasia, Type 6	Cerebellar atrophy, Apnea, Elbow contracture, Cerebral atrophy, Brain atrophy, Atrophy/Degenerati...	OMIM:611523
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi...	OMIM:615382
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa...	ORPHA:31826
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Waddling gait, Proximal muscle weakness in lower limbs, Myopathy, Gait disturbance, Increased var...	ORPHA:1878
Charcot-Marie-Tooth Disease Type 4D	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Upper limb amyotrophy, Di...	ORPHA:99950
Myopathy, Distal, 3	Clumsiness, Distal amyotrophy, Steppage gait, Muscular dystrophy, EMG: myopathic abnormalities, J...	OMIM:610099
Christianson Syndrome	Cerebellar atrophy, Decreased muscle mass, Cachexia, Gait ataxia, Truncal ataxia, Arthrogryposis ...	ORPHA:85278
Laryngotracheal Angioma	Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Cardiomyopathy, Dilated, 1Q	Dilated cardiomyopathy	OMIM:609915
Cardiomyopathy, Dilated, 1H	Dilated cardiomyopathy	OMIM:604288
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Amyotrophic lateral sclerosis, Limb muscle weakness	OMIM:619141
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ...	ORPHA:99105
Brugada Syndrome 2	Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr...	OMIM:611777
Neurotrophic Keratopathy	Abnormal fifth cranial nerve morphology, Allodynia, Hyperesthesia	ORPHA:137596
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyopathy, Ventric...	OMIM:600649
Congenitally Uncorrected Transposition Of The Great Arteries	Cardiac shunt, Cardiomegaly, Tachypnea, Dextrotransposition of the great arteries, Abnormality of...	ORPHA:860
Myopathy, Centronuclear, 2	Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Respiratory insuffici...	OMIM:255200
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Elevated circulati...	OMIM:613327
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract	OMIM:300719
Amyotrophic Lateral Sclerosis 18	Skeletal muscle atrophy, Amyotrophic lateral sclerosis	OMIM:614808
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Severe Neonatal-Onset Encephalopathy With Microcephaly	Cerebral atrophy, Apnea, Respiratory insufficiency	ORPHA:209370
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Combined Oxidative Phosphorylation Deficiency 13	Choreoathetosis, Skeletal muscle atrophy, Decreased nerve conduction velocity	OMIM:614932
Benign Schwannoma	Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth cranial nerve, Sclera...	ORPHA:252164
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Polyhydramnios, Centrally nucleated skeletal muscle fibe...	ORPHA:169189
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Babinski sign, Optic atrophy, Progressive cerebellar ataxia, Progressive gait ataxia, Lower limb ...	ORPHA:254343
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Limb...	OMIM:609308
Distal Myopathy With Anterior Tibial Onset	Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h...	ORPHA:178400
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Staphylococcal Necrotizing Pneumonia	Shock, Respiratory distress, Pneumonia, Elevated circulating C-reactive protein concentration, No...	ORPHA:36238
Amoebiasis Due To Entamoeba Histolytica	Lung abscess, Abnormal pericardium morphology, Dyspnea, Congestive heart failure, Weight loss, Pl...	ORPHA:67
Primary Effusion Lymphoma	Pericardial effusion, Dyspnea, Pleural effusion	ORPHA:48686
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Pseudo-Torch Syndrome 2	Acute respiratory distress syndrome, Cerebral hemorrhage, Secundum atrial septal defect, Patent d...	OMIM:617397
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, R...	OMIM:619518
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Waddling gait, Facial palsy, Flexion contracture, Shoulder girdle muscle weakness, Muscular dystr...	OMIM:603511
Krabbe Disease	Diffuse cerebral atrophy, Decreased nerve conduction velocity, Optic atrophy, EEG abnormality, Ne...	OMIM:245200
Primary Angiitis Of The Central Nervous System	Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis, Const...	ORPHA:140989
Merrf	Myopathy, Ragged-red muscle fibers, Ataxia	ORPHA:551
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Skeletal muscle atrophy, Dystonia, Ataxia, Inability to walk, Tetraparesis, Tongue fasciculations...	OMIM:618276
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Prolonged QRS complex, Polyhydramnios, Supraventricular tachycardia, Foo...	ORPHA:273
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia	OMIM:606703
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Skeletal muscle atrophy, Muscular dystrophy, Loss of ambulation, Increased variability in muscle ...	OMIM:253601
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Constrictive pericarditis, Pleural effusion	OMIM:602248
Spastic Ataxia 5, Autosomal Recessive	Spastic ataxia, Cerebellar atrophy, Onion bulb formation, Ataxia, Dysmetria, Dysdiadochokinesis, ...	OMIM:614487
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy	OMIM:616209
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Increased variability in muscle fibe...	OMIM:619473
Cataract-Nephropathy-Encephalopathy Syndrome	Renal tubular dysfunction, Cataract	ORPHA:1380
Dk1-Cdg	Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac...	ORPHA:91131
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Peripheral axonal neuropathy,...	OMIM:218000
Congenital Myopathy 23	Waddling gait, Skeletal muscle atrophy, Scapular winging, Flexion contracture, Facial diplegia, T...	OMIM:609285
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Facial palsy, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titu...	OMIM:607483
Amyotrophy, Hereditary Neuralgic	Peripheral axonal degeneration, Skeletal muscle atrophy, Brachial plexus neuropathy, Axonal degen...	OMIM:162100
Spinocerebellar Ataxia 40	Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Pontocerebellar atrophy...	OMIM:616053
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Ataxia, Bowel incontinence, Truncal titubation, Axonal degeneration, Impaired vibration sensation...	ORPHA:88628
Congenital Enterovirus Infection	Respiratory distress, Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis, Hydrops f...	ORPHA:292
Folinic Acid-Responsive Seizures	Respiratory distress, Cerebellar atrophy, Apnea, Ataxia, Chorea, Optic atrophy, Frontotemporal ce...	ORPHA:79097
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Apnea, Optic atrophy, Gliosis, Bradycardia, Abnormal autonomic nervous system physiology, Joint c...	OMIM:614498
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Tricuspid regurgitation, Crackles, Dyspnea, Asthma, Wheezing, Atelectasis, Bronchiectasis, Recurr...	OMIM:620233
Cardiomyopathy, Familial Hypertrophic, 15	Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef...	OMIM:613255
Autosomal Recessive Spastic Paraplegia Type 21	Frontotemporal cerebral atrophy, Lower limb muscle weakness, Abnormality of peripheral nerve cond...	ORPHA:101001
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Skeletal muscle atrophy, Apnea, Opisthotonus	OMIM:616896
Seizures, Benign Familial Infantile, 3	Apnea	OMIM:607745
Pontocerebellar Hypoplasia, Type 16	Skeletal muscle atrophy, Apnea, Optic atrophy, Cerebral cortical atrophy, Limb hypertonia	OMIM:619527
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ...	OMIM:619902
Bardet-Biedl Syndrome 2	Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve, Obesity	OMIM:615981
Isolated Atp Synthase Deficiency	Cerebellar atrophy, Respiratory distress, Dilated cardiomyopathy, Optic atrophy, Hyperammonemia, ...	ORPHA:254913
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc...	OMIM:619477
Oculopharyngodistal Myopathy 2	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of...	OMIM:618940
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Flexion contracture, Myopathy, Cachexia	ORPHA:157973
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Cardiomyopathy, Abnormal autonomic nervous system physiology, Orthostatic hypotensi...	OMIM:105210
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Cerebellar atrophy, Skeletal muscle atrophy, Facial palsy, Elevated circulating creatine kinase c...	OMIM:258450
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Dy...	OMIM:615745
Spastic Ataxia, Charlevoix-Saguenay Type	Progressive truncal ataxia, Spastic ataxia, Decreased motor nerve conduction velocity, Ataxia, Pe...	OMIM:270550
Hypocomplementemic Urticarial Vasculitis	Abnormal heart valve morphology, Pericardial effusion, Dyspnea, Angioedema, Emphysema, Restrictiv...	ORPHA:36412
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati...	ORPHA:99103
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in upper limbs, Increased mitochondrial number, Ragged-red muscle fibers...	ORPHA:457050
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Neonatal respiratory distress, Spinal muscular atrophy, Secundum atrial septal defect, Congestive...	OMIM:616866
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
2Q24 Microdeletion Syndrome	Central apnea, Failure to thrive, Small for gestational age, Camptodactyly of finger	ORPHA:1617
Amyotrophic Lateral Sclerosis 27, Juvenile	Lower limb spasticity, Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intr...	OMIM:620285
Glycogen Storage Disease 0, Muscle	Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla...	OMIM:611556
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations	Failure to thrive, Apnea, Central hypoventilation, Respiratory insufficiency	OMIM:300673
Mogs-Cdg	Respiratory distress, Hypoventilation, Absent brainstem auditory responses, Pulmonary edema, Apne...	ORPHA:79330
X-Linked Charcot-Marie-Tooth Disease Type 2	Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Optic disc pallor, Tibia...	ORPHA:101076
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Respiratory distress, Neonatal respiratory distress, Small for gestational a...	OMIM:260400
Combined Oxidative Phosphorylation Defect Type 13	Hip contracture, Ankle flexion contracture, Decreased nerve conduction velocity, Choreoathetosis,...	ORPHA:319514
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Decreased nerve conduction velocity, Skeletal muscle atrophy, Ataxia, Cachexia	ORPHA:1933
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Elevated circulating cre...	ORPHA:268
Spinocerebellar Ataxia 1	Impaired vibratory sensation, Decreased motor nerve conduction velocity, Optic disc pallor, Skele...	OMIM:164400
Truncus Arteriosus	Anomalous origin of one pulmonary artery from ascending aorta, Cardiomegaly, Tachypnea, Abnormal ...	ORPHA:3384
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Neonatal respiratory distress, Spinal muscular atrophy, Polyhydramnios, ...	OMIM:616867
Huntington Disease-Like 2	Caudate atrophy, Parkinsonism, Involuntary movements, Chorea, Weight loss, Cerebral cortical atrophy	ORPHA:98934
Glycogen Storage Disease Xv	Scapular winging, ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Par...	OMIM:613507
Sarcoidosis, Susceptibility To, 2	Facial palsy, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, ...	OMIM:612387
Flynn-Aird Syndrome	Skeletal muscle atrophy, Ataxia, Cachexia, Impaired pain sensation, Cerebral cortical atrophy	ORPHA:2047
Amyotrophic Lateral Sclerosis 2, Juvenile	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, H...	OMIM:205100
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa...	ORPHA:439
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Abnormal lower motor neuron morphology, Spinal muscular atrophy, Respiratory insufficiency due to...	OMIM:611067
Adult Acute Respiratory Distress Syndrome	Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Respiratory failure, Abnormal blood gas level, ...	ORPHA:70578
Seizures, Benign Familial Infantile, 1	Apnea	OMIM:601764
Spastic Paraplegia 48, Autosomal Recessive	Lower limb spasticity, Ataxia, Urinary incontinence, Parkinsonism, Spastic paraplegia, Dysmetria,...	OMIM:613647
Multiminicore Myopathy	Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Respiratory insufficie...	ORPHA:598
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Papilledema, Ventricular septal defect, Elevated circulating creati...	OMIM:618775
Intellectual Developmental Disorder, Autosomal Dominant 56	Lower limb spasticity, Ataxia, Paraparesis, Oromotor apraxia, Clumsiness, Bradykinesia, Pontocere...	OMIM:617854
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Ataxia, Babinski sign, Spastic diplegia, Myoclonus, Increased intramyocellular lipid droplets, Dy...	OMIM:619065
Inclusion Body Myositis	Inflammatory myopathy, Rimmed vacuoles	OMIM:147421
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Polyhydramnios, Flexion contracture, Facial diplegia, Card...	ORPHA:171433
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Respiratory insufficiency d...	OMIM:254090
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Telangiectasia of the skin, Abnormal pericardium morphology, Myocard...	ORPHA:679
Focal Segmental Glomerulosclerosis 1	Edema, Hyperlipidemia, Hypertension, Hypoalbuminemia, Pleural effusion, Ascites	OMIM:603278
Benign Samaritan Congenital Myopathy	Internally nucleated skeletal muscle fibers, Abnormal respiratory system physiology, Centrally nu...	ORPHA:324581
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased motor nerve conduction velocity, Decreased muscle mass, Peripheral axonal neuropathy, C...	ORPHA:298
Spinocerebellar Ataxia Type 1	Cerebellar atrophy, Skeletal muscle atrophy, Chorea, Impaired proprioception, Optic atrophy, Dysm...	ORPHA:98755
Atrial Septal Defect 6	Atrial septal defect, Atrial fibrillation, Bradycardia	OMIM:613087
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Lower limb muscle weakness, Dysmetria, ...	ORPHA:313772
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Optic disc pallor, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardio...	OMIM:619167
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Intermittent...	ORPHA:324604
Spinocerebellar Ataxia 28	Parkinsonism, Babinski sign, Ragged-red muscle fibers, Limb ataxia, Gait ataxia, Lower limb hyper...	OMIM:610246
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Hypotonia, Infantile, With Psychomotor Retardation	Ventricular septal defect, Respiratory insufficiency due to muscle weakness, Cryptorchidism, Myop...	OMIM:616816
Amyotrophic Lateral Sclerosis 23	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis	OMIM:617839
Mcleod Syndrome	Atrial fibrillation, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Dilated ...	OMIM:300842
Mitochondrial Complex I Deficiency, Nuclear Type 10	Apnea, Central hypoventilation, Ataxia, Optic atrophy, Dysmetria, Respiratory failure	OMIM:618233
Glutamine Deficiency, Congenital	Hypoglutaminemia, Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Flexion...	OMIM:610015
Mitochondrial Complex I Deficiency, Nuclear Type 37	Cerebellar atrophy, Skeletal muscle atrophy, Respiratory distress, Corpus callosum atrophy, Cereb...	OMIM:619272
Lymphatic Malformation 7	Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial ...	OMIM:617300
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy	OMIM:208750
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Ankle flexion contracture, Reduced forced vital capacity, Respiratory insufficiency due to muscle...	OMIM:619461
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio...	OMIM:618052
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Skeletal muscle atrophy, Cerebral hemorrhage, Abnormality of skeletal muscl...	OMIM:620278
Mitochondrial Complex I Deficiency, Nuclear Type 21	Ataxia, Babinski sign, Ragged-red muscle fibers, Myopathy, Difficulty walking, Spasticity	OMIM:618242
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Sudden cardiac death, Dyspnea, Left ventricular outflow tract obstruction, Systolic anterior moti...	OMIM:620236
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Decreased nerve conduction velocity, Peripheral demyelination, Gait ataxia	OMIM:249900
Ullrich Congenital Muscular Dystrophy 2	Facial palsy, Flexion contracture, Nocturnal hypoventilation, Increased variability in muscle fib...	OMIM:616470
Classic Glucose Transporter Type 1 Deficiency Syndrome	Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy...	ORPHA:71277
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral atrophy	OMIM:105500
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per...	OMIM:617047
Marinesco-Sjogren Syndrome	Cerebellar atrophy, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, ...	OMIM:248800
Necrotizing Enterocolitis	Shock, Hyponatremia, Apnea, Small for gestational age, Edema, Abnormal heart morphology, Bradycar...	ORPHA:391673
Autosomal Recessive Spastic Paraplegia Type 11	Orthostatic hypotension, Peripheral axonal neuropathy, Ataxia, Parkinsonism, Overweight, Atrophy ...	ORPHA:2822
Myasthenic Syndrome, Congenital, 24, Presynaptic	Apnea, Respiratory insufficiency, Knee flexion contracture, Distal arthrogryposis, Camptodactyly	OMIM:618198
Leukodystrophy, Hypomyelinating, 4	Choreoathetosis, Flexion contracture, Apnea, Head titubation	OMIM:612233
Cardiomyopathy, Familial Restrictive, 3	Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ...	OMIM:612422
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Apnea, Brain atrophy, Respiratory insufficiency	OMIM:617290
Nemaline Myopathy 5C, Autosomal Dominant	Waddling gait, Skeletal muscle atrophy, Scapular winging, Quadriceps muscle weakness, Achilles te...	OMIM:620389
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Steppage gait, Type 1 mus...	OMIM:608340
Kearns-Sayre Syndrome	Skeletal muscle atrophy, Ragged-red muscle fibers, Third degree atrioventricular block	ORPHA:480
Posterior Column Ataxia With Retinitis Pigmentosa	Skeletal muscle atrophy, Flexion contracture of finger, Ataxia, Impaired vibration sensation in t...	OMIM:609033
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Decreased motor nerve conduction velocity, Impaired pain sensation, Dysesthesia, Impaired vibrati...	OMIM:613640
D-2-Hydroxyglutaric Aciduria 2	Cardiomyopathy, D-2-hydroxyglutaric acidemia	OMIM:613657
Cardiomyopathy, Familial Hypertrophic, 16	Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund...	OMIM:613838
Oculopharyngeal Muscular Dystrophy	Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology	ORPHA:270
Galactosemia Iv	Cataract	OMIM:618881
Phosphoserine Aminotransferase Deficiency	Apnea	OMIM:610992
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Cerebral atrophy,...	OMIM:256600
Isaacs Syndrome	Calf muscle hypertrophy, Weight loss, Fasciculations, Distal sensory impairment	ORPHA:84142
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Dysmetria, Dysdiadochokinesis, F...	OMIM:618356
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Dilated cardiomyopathy, Tachypnea, Optic atrophy, Respiratory insufficiency...	OMIM:614299
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated circulating creatine kinase concentration, Edema, Quadriceps muscle weakness, Ragged-red...	ORPHA:254892
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Cryptorchidism, Increased nuchal translucency, Patent...	OMIM:616564
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Impaired vibratory sensation, Decreased nerve conduction velocity, Dysmetria, Dysdiadochokinesis,...	OMIM:238970
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ...	OMIM:620138
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Elevated circulating creatine kinase concentration, Calf muscle hypertrophy, Cardiomyopathy, Myop...	ORPHA:119
Rett Syndrome	Skeletal muscle atrophy, Dystonia, Apnea, Intermittent hyperventilation, Cachexia, Gait ataxia, T...	OMIM:312750
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability...	OMIM:613204
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricular conduction, Knee...	ORPHA:3208
Triokinase And Fmn Cyclase Deficiency Syndrome	Dilated cardiomyopathy, Reduced systolic function, Hypoalbuminemia, Failure to thrive in infancy	OMIM:618805
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Tachypnea, Reduced left ...	OMIM:616501
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Athetosis, Amyotrophic lateral sclerosis, Dystonia	OMIM:300857
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Elevated circulating glutaric acid concentration, Bilateral cryptorchidism...	ORPHA:66634
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Type 2 muscle fiber predo...	OMIM:619028
Mitochondrial Complex I Deficiency, Nuclear Type 4	Ataxia, Apnea, Brain atrophy	OMIM:618225
Cardiomyopathy, Familial Restrictive, 1	Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac...	OMIM:115210
Myopathy, Myofibrillar, 6	Scapular winging, Facial palsy, Restrictive cardiomyopathy, Elevated circulating creatine kinase ...	OMIM:612954
Combined Oxidative Phosphorylation Deficiency 28	Increased serum pyruvate, Polyhydramnios, Congestive heart failure, Ragged-red muscle fibers, Res...	OMIM:616794
Primary Pulmonary Hypoplasia	Neonatal respiratory distress, Apnea, Abnormal hemidiaphragm morphology, Asthma, Tachypnea, Pneum...	ORPHA:2257
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Atrophy of the spinal co...	OMIM:256840
Congenital Myopathy 15	Tricuspid regurgitation, Polyhydramnios, Fatty replacement of skeletal muscle, Reduced forced vit...	OMIM:620161
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Peroxisome Biogenesis Disorder 8B	Clonus, Dysmetria, Gait ataxia, Hypertonia, Ataxia, Limb tremor, Brain atrophy, Spastic parapares...	OMIM:614877
Myopathy, Myofibrillar, 4	Autophagic vacuoles, Elevated circulating creatine kinase concentration, Cardiomyopathy, Myofibri...	OMIM:609452
Adult-Onset Distal Myopathy Due To Vcp Mutation	Scapular winging, Abnormality of the musculature of the lower limbs, Decreased nerve conduction v...	ORPHA:329478
Bethlem Myopathy 2	Scapular winging, Elevated circulating creatine kinase concentration, Flexion contracture, Myopat...	OMIM:616471
Scedosporiosis	Pericarditis, Sinusitis, Bronchial breath sound, Pneumonia, Bronchitis, Abnormal respiratory syst...	ORPHA:449280
Neurodegeneration With Brain Iron Accumulation 6	Rigidity, Spastic tetraplegia, Bradykinesia, Distal amyotrophy, Neurodegeneration, Spastic parapa...	OMIM:615643
Benign Familial Neonatal-Infantile Seizures	Episodic ataxia, Apnea	ORPHA:140927
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Tremor, Cerebral atrophy, Apneic episodes precipitated by illness, fat...	OMIM:312170
Capillary Malformation-Arteriovenous Malformation	Neurogenic bladder, Epistaxis, Nonimmune hydrops fetalis, Abnormality of the musculature of the l...	ORPHA:137667
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Fatigue, Skeletal muscle atrophy, Ataxia, Cachexia, Myopathy, Exercise-induced myalgia, Distal ar...	ORPHA:42
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Skeletal muscle atrophy, Abnormal atrioventricular conduction, Respiratory insufficiency due to m...	ORPHA:329336
Myofibrillar Myopathy 10	Elevated circulating creatine kinase concentration, Ankle flexion contracture, Elbow flexion cont...	OMIM:619040
Poliomyelitis	Fatigue, Skeletal muscle atrophy, Exercise intolerance, Hypoplasia of the musculature, Abnormal m...	ORPHA:2912
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Weight loss, Failure to thrive, Cachexia, Gait ataxia	OMIM:612075
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Diffuse cerebral atrophy, Motor neuron atrophy, Frontotemporal cerebral atrophy, Spinocerebellar ...	ORPHA:412066
Oculopharyngodistal Myopathy 4	Autophagic vacuoles, Postural tremor, Fatty replacement of skeletal muscle, Tremor, Increased var...	OMIM:619790
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus	Decreased motor nerve conduction velocity, Cerebellar atrophy, Cerebral atrophy, Sensory ataxia, ...	OMIM:616192
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Centrally ...	OMIM:615422
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Decreased nerve conduction velocity, Truncal obesity, Camptodactyly of finger	ORPHA:2928
Myasthenic Syndrome, Congenital, 20, Presynaptic	Hypoventilation, Skeletal muscle atrophy, Apnea, Facial palsy, Stridor, Arthrogryposis multiplex ...	OMIM:617143
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Elevated circulating acylcarnitine concentration, Optic atrophy, Cardiomyop...	ORPHA:26792
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure, Apnea, Central hypoventilation	OMIM:619483
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Impaired vibratory sensation, Distal lower limb amyotrophy, Thenar muscle atrophy, Babinski sign,...	OMIM:500013
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers,...	OMIM:613561
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Neonatal respiratory distress, Scarring alopecia of scalp, Motheaten muscle fibers, Nail dystroph...	OMIM:226670
Idiopathic Congenital Hypothyroidism	Facial edema, Macroglossia, Bradycardia, Neonatal hyperbilirubinemia	ORPHA:95717
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at...	ORPHA:98905
Hjv Or Hamp-Related Hemochromatosis	Increased circulating ferritin concentration, Elevated transferrin saturation, Dilated cardiomyop...	ORPHA:79230
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7	Hypoglycosylation of alpha-dystroglycan, Scapular winging, Macroglossia, Calf muscle hypertrophy,...	OMIM:616052
Spinocerebellar Ataxia 10	Cerebellar atrophy, Decreased nerve conduction velocity, Limb ataxia, Distal sensory impairment, ...	OMIM:603516
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Somatic sensory dysfunction, Abnormality of the seventh cranial nerve, Distal sensory impairment,...	ORPHA:90117
Combined Oxidative Phosphorylation Deficiency 6	Skeletal muscle atrophy, Involuntary movements, Ragged-red muscle fibers, Tetraplegia, Tongue fas...	OMIM:300816
Myasthenic Syndrome, Congenital, 16	Apnea	OMIM:614198
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Scapular winging, Myositis, Elevated circulating creatine kinase concent...	ORPHA:206569
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Myopathy, Type 1 musc...	OMIM:605355
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo...	OMIM:602088
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ...	ORPHA:35689
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Splenomegaly, Hepatomegaly, Enlarged kidney	OMIM:615285
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Apnea, Limb joint contracture, Bradycardia	OMIM:619814
Lethal Congenital Contracture Syndrome 7	Skeletal muscle atrophy, Paralysis, Knee flexion contracture, Facial diplegia, Distal arthrogryposis	OMIM:616286
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Dyspnea, Achilles te...	OMIM:615418
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn...	ORPHA:75840
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome	Spastic ataxia, Cerebellar atrophy, Peripheral axonal neuropathy, Spinal muscular atrophy, Spasti...	ORPHA:496756
Autosomal Recessive Progressive External Ophthalmoplegia	Cerebellar atrophy, Scapular winging, Facial palsy, Elevated circulating creatine kinase concentr...	ORPHA:254886
Joubert Syndrome 23	Tachypnea, Apnea	OMIM:616490
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left...	OMIM:540000
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Respiratory insufficiency due to...	OMIM:611890
Systemic-Onset Juvenile Idiopathic Arthritis	Pleural effusion, Pericarditis, Joint swelling, Elevated circulating C-reactive protein concentra...	ORPHA:85414
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Dyspnea, Concentric hypertrophic cardiomyopathy, Biventricu...	OMIM:613243
Joubert Syndrome 33	Apnea, Ataxia	OMIM:617767
Neonatal Lupus Erythematosus	Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal hear...	ORPHA:398124
Pericardial And Diaphragmatic Defect	Neonatal respiratory distress, Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent duc...	ORPHA:2847
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9	Hypoglycosylation of alpha-dystroglycan, Ankle flexion contracture, Limb-girdle muscle weakness, ...	OMIM:613818
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Neonatal respiratory distress, Apnea, Elevated circulating creatine kinase concentration, Cardiom...	OMIM:608836
Adrenomyeloneuropathy	Back pain, Fatigue, Peripheral axonal degeneration, Urinary incontinence, Bowel incontinence, Atr...	ORPHA:139399
Microphthalmia, Isolated, With Cataract 1	Cataract	OMIM:156850
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Dilated cardiomyopathy	OMIM:619688
Central Core Disease	Neonatal respiratory distress, Multiple joint contractures, Elevated circulating creatine kinase ...	ORPHA:597
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Tularemia	Respiratory distress, Tachycardia, Pneumonia, Cough, Pleural effusion	ORPHA:3392
Spinal Muscular Atrophy, Segmental	Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy	OMIM:183020
Pediatric Systemic Lupus Erythematosus	Myositis, Edema, Pericardial effusion, Dyspnea, Raynaud phenomenon, Pleural effusion, Ascites	ORPHA:93552
Combined Oxidative Phosphorylation Deficiency 57	Small for gestational age, Apnea, Central hypoventilation, Cerebral atrophy, Dystonia, Neonatal d...	OMIM:620167
Pulmonary Arteriovenous Malformation	Transient ischemic attack, Epistaxis, Myocardial infarction, Cough, Dyspnea, Heart murmur, Telang...	ORPHA:2038
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Ataxia, Rhabdomyolysis, Ragged-red muscle fibers, Choreoathetosis, Dystonia, Weakness of facial m...	OMIM:618416
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Small for gestationa...	ORPHA:555874
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Skeletal muscle atrophy, Transient ischemic attack, Supraventricular arrhyt...	ORPHA:3260
Congenital Myopathy 11	Weakness of facial musculature, Neonatal respiratory distress, Apneic episodes in infancy	OMIM:619967
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:616208
Leukoencephalopathy With Dystonia And Motor Neuropathy	Impaired vibratory sensation, Decreased motor nerve conduction velocity, Torticollis	OMIM:613724
Mitochondrial Complex I Deficiency, Nuclear Type 33	Apnea, Small for gestational age, Optic atrophy, Bronchiectasis, Respiratory insufficiency, Aspir...	OMIM:618253
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,...	ORPHA:85445
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Indifference To Pain, Congenital, Autosomal Recessive	Pain insensitivity, Impaired temperature sensation, Impaired proprioception, Painless fractures d...	OMIM:243000
Spinocerebellar Ataxia Type 3	Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive c...	ORPHA:98757
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Ataxia, Acute rhabdomyolysis, Camptodactyly of finger, Dysmetria, Paresthesia, Motor axonal neuro...	ORPHA:48431
Spinocerebellar Ataxia Type 40	Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atrophy, Spastic paraparesis, Intenti...	ORPHA:423275
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma	OMIM:604219
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Distal sensory impai...	OMIM:601152
Congenital Myopathy 6 With Ophthalmoplegia	Waddling gait, Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture,...	OMIM:605637
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Aminoacylase 1 Deficiency	Cerebellar atrophy, Bradycardia, Cerebral cortical atrophy, Cerebral atrophy	OMIM:609924
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab...	ORPHA:439232
Diencephalic Syndrome	Optic atrophy, Cachexia, Decreased body weight	ORPHA:1672
Chorea, Remitting, With Nystagmus And Cataract	Cataract	OMIM:601372
Joubert Syndrome 30	Cerebellar atrophy, Tachypnea, Apnea	OMIM:617622
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Edema, Dyspnea, Atelectasis, Tachypnea, Pulm...	OMIM:267450
Cardiac Lipidosis, Familial	Cardiomyopathy, Congestive heart failure	OMIM:212080
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Distal lower limb amyotrophy, Postural tremor, Hand muscle weakness, Quadriceps muscle weakness, ...	ORPHA:99947
Fatal Familial Insomnia	Apnea, Ataxia, Weight loss, Abnormal autonomic nervous system physiology, Neuronal loss in centra...	OMIM:600072
Pulmonary Edema Of Mountaineers, Susceptibility To	Elevated pulmonary artery pressure, Edema, Pulmonary edema	OMIM:178400
Duchenne Muscular Dystrophy	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexion contracture,...	ORPHA:98896
Congenital Disorder Of Glycosylation, Type It	Tachycardia, Ventricular septal defect, Elevated circulating creatine kinase concentration, Sudde...	OMIM:614921
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexion contracture,...	OMIM:253800
Ogden Syndrome	Bicuspid aortic valve, Apnea, Cardiomegaly, Secundum atrial septal defect, Lymphedema, Ventricula...	OMIM:300855
Leukodystrophy, Hypomyelinating, 24	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Flexion contracture, Cer...	OMIM:619851
Congenital-Onset Steinert Myotonic Dystrophy	Bundle branch block, Neonatal respiratory distress, Facial hypotonia, First degree atrioventricul...	ORPHA:589821
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Failure to thrive, Bradycardia, Joint contracture of the 5th finger, Atrioventricular block	OMIM:614407
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, Sudden cardi...	OMIM:201475
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Facial hypotonia, Apnea, Ataxia, Tremor, Flexion contracture, Obesity, Choreoathe...	OMIM:300055
Malonyl-Coa Decarboxylase Deficiency	Neonatal respiratory distress, Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy	OMIM:248360
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl...	ORPHA:1686
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Edema, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, Stridor, Tricep...	OMIM:619574
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia, Rhinorrhea	OMIM:167400
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Reduced forced vital capacity, Fatty replacement of skeletal muscle, Achilles ...	OMIM:620249
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased muscle lipid ...	OMIM:610717
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Facial palsy, Elevated circulating creatine kinase concentration, Flexion contracture, Abnormal l...	OMIM:613155
Wieacker-Wolff Syndrome	Neonatal respiratory distress, Dystonia, Apnea, Facial palsy, Cerebral atrophy, Congenital foot c...	OMIM:314580
Pelizaeus-Merzbacher Disease	Ataxia, Failure to thrive in infancy, Cachexia, Bowel incontinence, Optic atrophy, Choreoathetosi...	ORPHA:702
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Low-output congestive heart failure, Myopathy, Hypertrophic cardiomyopathy,...	ORPHA:91130
Myasthenic Syndrome, Congenital, 12	Waddling gait, Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy	OMIM:610542
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Dilated cardiomyopathy, Cerebral atrophy, Neurodegeneration, Gliosis, Left ventricul...	OMIM:618321
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Atrophy/Degeneration involving the spinal cord, Dilated cardiomyopathy, Ragged-red muscle fibers,...	ORPHA:70595
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy	ORPHA:2229
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Dyspnea, Ventricular t...	OMIM:612098
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, Neonatal death, Pu...	OMIM:265120
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Cerebellar atrophy, Frontal upsweep of hair, Apnea, Cerebral atrophy	OMIM:619797
Vitamin B12-Unresponsive Methylmalonic Acidemia	Ataxia, Paraparesis, Optic atrophy, Choreoathetosis, Tetraparesis	ORPHA:27
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Ax...	OMIM:619026
Mitochondrial Dna-Associated Leigh Syndrome	Apnea, Cardiac conduction abnormality, Dyspnea, Dilated cardiomyopathy, Ragged-red muscle fibers,...	ORPHA:255210
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Immunodeficiency 91 And Hyperinflammation	Elevated circulating C-reactive protein concentration, Edema, Recurrent pneumonia, Abnormal pulmo...	OMIM:619644
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Azoospermia, Ischemic stroke, Decrease...	ORPHA:280679
Lipoyltransferase 1 Deficiency	Cerebellar atrophy, Hyperglutaminemia, Hyperprolinemia, Bradycardia, Pulmonary arterial hypertens...	OMIM:616299
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T...	OMIM:616313
Neuronal Intranuclear Inclusion Disease	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased sensory nerve c...	OMIM:603472
Multifocal Motor Neuropathy	Limb muscle weakness, Weakness of long finger extensor muscles, Motor conduction block	ORPHA:641
X-Linked Adrenoleukodystrophy	Somatic sensory dysfunction, Incoordination, Paralysis, Paraparesis, Progressive spastic parapare...	ORPHA:43
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Takayasu Arteritis	Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vasculit...	ORPHA:3287
Q Fever	Respiratory distress, Pericarditis, Abnormal heart valve morphology, Pneumonia, Pericardial effus...	ORPHA:781
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Intracranial hemorrhage, Cough, Internal hemorrhage, Elevated circulating c...	ORPHA:340
Japanese Encephalitis	Hyperintensity of MRI T2 signal of the spinal cord, Skeletal muscle atrophy, Respiratory distress...	ORPHA:79139
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Failure to thrive in in...	ORPHA:264675
Polyarteritis Nodosa	Pericarditis, Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Abnormal...	ORPHA:767
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Hip contracture, Facial hypotonia, Failure to thrive in infancy, Cachexia, Cerebral atrophy, Hype...	OMIM:616801
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong...	OMIM:609040
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Autosomal Recessive Spastic Paraplegia Type 55	Skeletal muscle atrophy, Onion bulb formation, Lower limb spasticity, Optic neuropathy, Tibialis ...	ORPHA:320375
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo...	ORPHA:99104
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Apneic episodes in infancy, Generalized amyotrophy	OMIM:610006
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Aspergillosis	Sinusitis, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obstruction, Abnormality on pulmonary fu...	ORPHA:1163
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response, Apnea, Cardiorespiratory arrest, Stridor, Bronchospasm, Abnormal pa...	OMIM:608800
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Edema, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte h...	OMIM:605676
Congenital Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Neonatal respiratory distress, Apnea, Respiratory failure	ORPHA:168486
Spastic Paraplegia 20, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Flexion contracture, Babinski sign, Spastic paraplegia...	OMIM:275900
8p23.1 deletion syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Abnormal heart morphology, Atrial septal defect,...	DECIPHER:39
Pontocerebellar Hypoplasia Type 2	Paroxysmal dystonia, Apnea, Viral infection-induced rhabdomyolysis, Choreoathetosis, Lower limb h...	ORPHA:2524
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Abnormal lung lobation, Atrial sep...	OMIM:265380
Congenital Disorder Of Glycosylation, Type Im	Increased circulating free fatty acid level, Dilated cardiomyopathy, Bradycardia, Aspiration, Fai...	OMIM:610768
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hyp...	ORPHA:73224
Charcot-Marie-Tooth Disease Type 1E	Hand muscle atrophy, Distal lower limb amyotrophy, Peroneal muscle weakness, Impaired temperature...	ORPHA:90658
Congenital Disorder Of Glycosylation, Type Ik	Nonimmune hydrops fetalis, Flexion contracture, Cerebral atrophy, Cardiomyopathy, Joint contracture	OMIM:608540
Congenital Myasthenic Syndromes With Glycosylation Defect	Waddling gait, Scapular winging, Facial palsy, Generalized weakness of limb muscles, Limb-girdle ...	ORPHA:353327
Oculopharyngodistal Myopathy	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Vocal cord paresis, Abnorm...	ORPHA:98897
Andersen-Tawil Syndrome	Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil...	ORPHA:37553
Neuropathy, Congenital Hypomyelinating, 3	Decreased motor nerve conduction velocity, Cerebellar atrophy, Limb joint contracture, Cachexia, ...	OMIM:618186
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Diffuse cerebral atrophy, Bradycardia	ORPHA:2898
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Decreased nerve conduction velocity, Fatty replacement of skeletal muscle, Myopathy, Increased va...	ORPHA:397744
Carnitine Deficiency, Systemic Primary	Respiratory distress, Elevated circulating creatine kinase concentration, Cardiomegaly, Congestiv...	OMIM:212140
Mitochondrial Myopathy, Infantile, Transient	Facial palsy, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Increas...	OMIM:500009
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
Pulmonary Blastoma	Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Weight loss, Cough	ORPHA:64741
Myotonia, Potassium-Aggravated	Stridor, Skeletal muscle atrophy, Apneic episodes in infancy, Skeletal muscle hypertrophy	OMIM:608390
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Elevated circulating crea...	OMIM:620300
Erdheim-Chester Disease	Abnormal pericardium morphology, Dyspnea, Congestive heart failure, Abnormal pulmonary interstiti...	ORPHA:35687
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary embolism, Edema, ...	ORPHA:70591
Leptospirosis	Respiratory distress, Papilledema, Pericarditis, First degree atrioventricular block, Rhabdomyoly...	ORPHA:509
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi...	ORPHA:91359
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens...	OMIM:614473
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Small for gestational age, Elevated circulating C-reactive protein concentr...	OMIM:619573
Benign Familial Neonatal Epilepsy	Apnea	ORPHA:1949
Congenital Aortic Valve Stenosis	Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase...	ORPHA:3093
Surfactant Metabolism Dysfunction, Pulmonary, 4	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Restric...	OMIM:300770
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Telangiectasia of the skin, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Finger ...	OMIM:212112
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Tachypnea, Respiratory failure, Cough, Failure to thrive	OMIM:263000
Developmental And Epileptic Encephalopathy 90	Apneic episodes in infancy, Cerebral atrophy, Limb hypertonia	OMIM:301058
Illum Syndrome	Calcinosis, Arthrogryposis multiplex congenita, Apnea, Bradycardia	OMIM:208155
Poems Syndrome	Papilledema, Edema, Pericardial effusion, Respiratory insufficiency due to muscle weakness, Weigh...	ORPHA:2905
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Overriding aorta, Ventricular septal defect, Small for gestational age, Nonimmune hydrops fetalis...	OMIM:617021
Snakebite Envenomation	Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Edema, Angioedema, Rhabdomyolysis, I...	ORPHA:449285
Pparg-Related Familial Partial Lipodystrophy	Calf muscle pseudohypertrophy, Hypertriglyceridemia, Congestive heart failure, Abnormality of ske...	ORPHA:79083
Leukodystrophy, Hypomyelinating, 2	Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Rigidity, Head titubation, Babin...	OMIM:608804
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, F...	OMIM:610921
Cataract 11, Multiple Types	Cataract, Developmental cataract	OMIM:610623
Cardiomyopathy, Familial Hypertrophic, 25	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome	OMIM:607487
Melas	Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Dilated cardiomyopathy, Ragged-re...	ORPHA:550
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Unilateral cryptorchidism, Polyhydramnios, Centrally nucleated skeletal mus...	OMIM:300219
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Skeletal muscle atrophy, Broad-based gait, Ataxia, Clonus, Ragged-red muscle fibers, Abnormal pyr...	OMIM:616479
Idiopathic Camptocormia	Amyotrophic lateral sclerosis, Myositis, Fatty replacement of skeletal muscle, Abnormal muscle fi...	ORPHA:1320
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy	OMIM:609283
Glycogen Storage Disease Iii	Ventricular hypertrophy, Elevated circulating creatine kinase concentration, Hyperlipidemia, Card...	OMIM:232400
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Apnea, Type 1 muscle fiber predominance, Increased variability in muscle fiber diameter, Frontal ...	OMIM:612949
Idiopathic Chronic Eosinophilic Pneumonia	Crackles, Elevated circulating C-reactive protein concentration, Dyspnea, Nonproductive cough, Wh...	ORPHA:2902
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature	OMIM:617069
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov...	OMIM:619343
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Optic disc pallor, Congenital diaphragmatic hernia, Atrial septal defect...	OMIM:300887
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia, Congestive heart failure, Abnormality of skeletal muscle fiber size, Skelet...	ORPHA:2348
Frontotemporal Dementia	Amyotrophic lateral sclerosis, Neuronal loss in central nervous system	OMIM:600274
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Skeletal muscle atrophy, Tachycardia, Elevated circulating creatine kinase concentration, Glycoge...	ORPHA:368
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Hypokalem...	OMIM:620152
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Optic disc pallor, Apnea, Episodic tachypnea, Cerebral atrophy, Aspiration pn...	ORPHA:79264
Familial Thyroid Dyshormonogenesis	Facial edema, Macroglossia, Bradycardia, Abnormal circulating thyroglobulin level, Neonatal hyper...	ORPHA:95716
Atypical Rett Syndrome	Sudden episodic apnea, Episodic tachypnea, Impaired pain sensation, Tremor, Gait ataxia, Pill-rol...	ORPHA:3095
Cardiomyopathy, Familial Hypertrophic, 21	Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype...	OMIM:614676
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Increased nuchal translucency, ...	ORPHA:453499
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Neonatal respiratory distress, Ventricular septal defect, Apnea, Flexion contracture...	OMIM:614653
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Elevated circulating creatine kinase concentration, Cardiomegaly, Flexion c...	ORPHA:365
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Elevated circulating creatine kinase concentration, Optic neuropathy, Dyspnea, Pate...	OMIM:610505
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Myasthenic Syndrome, Congenital, 25, Presynaptic	Myopathy, Decreased compound muscle action potential amplitude, Flexion contracture, Generalized ...	OMIM:618323
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Bicuspid aortic valve, Mitral atresia, Small for gestational age, Tachypnea, Aortic valve atresia...	OMIM:220111
Spinocerebellar Ataxia Type 26	Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa...	ORPHA:101112
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Congestive heart fai...	OMIM:615895
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Bicuspid aortic valve, Overweight, Dilated cardiomyopathy, Renovascular hyp...	ORPHA:401923
Primary Intestinal Lymphangiectasia	Edema, Pericardial effusion, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Pleural ...	ORPHA:90362
Propionic Acidemia	Apnea, Tachypnea, Cerebral atrophy, Dystonia, Failure to thrive, Limb hypertonia	OMIM:606054
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphedema, P...	OMIM:235510
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Macroglossia, Bradycardia, Large for gestational age	ORPHA:226313
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Abnormal circulating acylcarnitine concentration, Increased circulating fr...	ORPHA:71212
Aortic Arch Interruption	Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Pedal edema, Aortop...	ORPHA:2299
Juvenile Huntington Disease	Cerebellar atrophy, Ataxia, Rigidity, Chorea, Weight loss, Gait ataxia, Progressive cerebellar at...	ORPHA:248111
Hypokalemic Periodic Paralysis	Paralysis, Abnormal muscle fiber morphology, Respiratory paralysis, Increased intramyocellular li...	ORPHA:681
Amish Nemaline Myopathy	Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Type 1 muscle fiber p...	ORPHA:98902
Indomethacin Embryofetopathy	Ventricular septal defect, Hydrops fetalis, Respiratory insufficiency, Cardiomyopathy, Atrial sep...	ORPHA:1909
Acitretin/Etretinate Embryopathy	Third degree atrioventricular block, Atrioventricular canal defect, Bradycardia, Conotruncal defect	ORPHA:40366
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Lower limb spasticity, ...	ORPHA:206436
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Dilated cardiomyopathy, Ventricular tachycardia, Syncope	OMIM:615821
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Cerebellar atrophy, Exaggerated startle response, Apnea, Tremor, Truncal titubation, Dysmetria, G...	OMIM:618056
Spastic Paraparesis And Deafness	Tremor, Spastic paraparesis	OMIM:312910
Gm1-Gangliosidosis, Type I	Abnormal heart valve morphology, Congestive heart failure, Dilated cardiomyopathy, Hydrops fetali...	OMIM:230500
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Hyperekplexia 3	Respiratory arrest, Exaggerated startle response, Apnea	OMIM:614618
Congenital Myopathy 21 With Early Respiratory Failure	Elevated circulating creatine kinase concentration, Dyspnea, Lipoid pneumonia, EMG: myopathic abn...	OMIM:620326
Joubert Syndrome 7	Central apnea, Ataxia, Episodic tachypnea, Tachypnea, Neonatal breathing dysregulation	OMIM:611560
Lethal Congenital Contracture Syndrome 8	Flexion contracture, Vocal cord paralysis, Facial diplegia, Distal amyotrophy, Distal arthrogryposis	OMIM:616287
Behçet Disease	Aortic regurgitation, Gastrointestinal hemorrhage, Myositis, Pericarditis, Myocardial infarction,...	ORPHA:117
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Decreased motor nerve conduction velocity, Cerebellar atrophy, Peripheral axonal neuropathy, Chor...	OMIM:606002
Spinal Arachnoiditis	Spastic paraparesis	OMIM:182950
Arthrogryposis Multiplex Congenita 6	Respiratory failure, Neonatal death, Increased variability in muscle fiber diameter, Nemaline bod...	OMIM:619334
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Painless fractures due to injury, Decreased sensory nerve conduction velocity, Decreased nerve co...	OMIM:201300
Tetanus	Respiratory distress, Tachycardia, Elevated circulating creatine kinase concentration, Tachypnea,...	ORPHA:3299
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema	OMIM:618773
Congenital Left Ventricular Aneurysm	Apnea, Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnorma...	ORPHA:1055
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al...	ORPHA:352479
Developmental And Epileptic Encephalopathy 99	Central apnea, Cerebellar atrophy, Frontotemporal cerebral atrophy, Atrophy/Degeneration affectin...	OMIM:619606
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Mitochondrial Complex I Deficiency, Nuclear Type 20	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cerebral edema	OMIM:611126
3-Methylglutaconic Aciduria Type 3	Choreoathetosis, Ataxia, Spastic paraparesis	ORPHA:67047
Kearns-Sayre Syndrome	Cardiomyopathy, Arrhythmia, Ragged-red muscle fibers, Third degree atrioventricular block	OMIM:530000
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Dystonia, Apnea, Abnormal autonomic nervous system physiology, Hyperventilation	OMIM:617903
Congenital Myopathy With Myasthenic-Like Onset	Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Gait disturbance, Type 1...	ORPHA:424107
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Tricuspid regurgitation, Bicuspid aortic valve, Congenital diaphragmatic hernia, Spina bifida, Pa...	ORPHA:1120
Acute Transverse Myelitis	Impaired vibratory sensation, Back pain, Somatic sensory dysfunction, Fatigue, Orthostatic hypote...	ORPHA:139417
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Peroxisome Biogenesis Disorder 11A (Zellweger)	Failure to thrive, Apnea	OMIM:614883
Huntington Disease-Like 2	Rigidity, Chorea, Weight loss, Bradykinesia, Cerebral cortical atrophy, Action tremor	OMIM:606438
Bronchial Neuroendocrine Tumor	Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Pneumonia, Right ventricular f...	ORPHA:97287
Alexander Disease Type Ii	Ataxia, Rigidity, Palatal tremor, Babinski sign, Spasticity, Abnormal autonomic nervous system ph...	ORPHA:363722
Joubert Syndrome 9	Apnea, Episodic tachypnea	OMIM:612285
Gorham-Stout Disease	Torticollis, Edema, Spinal cord compression, Pleural effusion, Rhinorrhea	ORPHA:73
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Central core regions in muscle fibers, Muscular dystrophy	OMIM:159050
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Flexion contracture, Muscle fiber atrophy, Aspiration, Hypoventilation, Facial palsy, A...	ORPHA:258
Meckel Syndrome, Type 8	Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
Malignant Hyperthermia Of Anesthesia	Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Hypercapnia, High-output congestive heart ...	ORPHA:423
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Hypotaurinemia, Mitral valve prolapse	OMIM:145350
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormal peripheral myelination, Hand muscle weakness, Limb-girdle muscle weakness, Upper limb mu...	ORPHA:466768
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Dyspnea, Tachypnea, Restrictive ventilatory defect, Cough, Decreased DLCO	OMIM:616414
Hyperglycinemia, Lactic Acidosis, And Seizures	Cerebral atrophy, Joint contracture, Apnea, Respiratory insufficiency	OMIM:614462
Glycine Encephalopathy With Normal Serum Glycine	Hip contracture, Exaggerated startle response, Apnea, Flexion contracture, Elbow flexion contract...	OMIM:617301
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P...	ORPHA:392
3-Hydroxy-3-Methylglutaric Aciduria	Apnea, Cardiac arrest, Edema, Tachypnea, Dilated cardiomyopathy, Hyperammonemia, Weight loss, Deh...	ORPHA:20
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Neonatal respiratory distress, Polyhydramnios, Type 1 muscle fiber atrophy, Cerebral atrophy, Typ...	OMIM:619036
Benign Familial Infantile Epilepsy	Apnea	ORPHA:306
Juvenile Dermatomyositis	Calcinosis, Bundle branch block, Myositis, Pericarditis, Gastrointestinal hemorrhage, Angina pect...	ORPHA:93672
Cardiomyopathy, Familial Hypertrophic, 20	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left vent...	OMIM:613876
Lujo Hemorrhagic Fever	Shock, Respiratory distress, Crackles, Elevated circulating C-reactive protein concentration, Fac...	ORPHA:319213
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mo...	ORPHA:183
Idiopathic/Heritable Pulmonary Arterial Hypertension	Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart murmur, Pedal ...	ORPHA:422
Alkuraya-Kucinskas Syndrome	Edema, Pericardial effusion, Camptodactyly, Arthrogryposis multiplex congenita, Pleural effusion	OMIM:617822
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Camptodactyly of finger, Abnormal pulmonary valve morphology, Congestive heart failure, Cryptorch...	ORPHA:1194
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh...	ORPHA:1345
Mulibrey Nanism	Cachexia	ORPHA:2576
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyhydramnios, Pericardial effusion, Cryptorchidism, Recurre...	OMIM:618183
Leukodystrophy, Hypomyelinating, 3	Appendicular spasticity, Corpus callosum atrophy, Abnormal pyramidal sign, Spastic paraparesis, J...	OMIM:260600
Pontocerebellar Hypoplasia, Type 7	Skeletal muscle atrophy, Apnea, Ataxia, Synophrys, Optic atrophy, Cerebral atrophy, Opisthotonus,...	OMIM:614969
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula...	OMIM:615474
Tuberculosis	Fatigue, Weight loss	ORPHA:3389
Neurological Conditions Associated With Aminoacylase 1 Deficiency	Syringomyelia, Apnea	ORPHA:137754
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Abnormal muscle fiber mo...	ORPHA:79102
Myotonic Dystrophy 1	Respiratory distress, Atrial flutter, Atrial fibrillation, First degree atrioventricular block, P...	OMIM:160900
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Inability to walk, Increased variability in muscle fiber diameter, Ataxia, Gait ataxia	OMIM:617915
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Tetraplegia/tetraparesis, Progressive spastic paraparesis, Babinski sign, Ankle clonus, Progressi...	ORPHA:506353
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Skeletal muscle atrophy, Multiple joint contractures, Respiratory insufficiency du...	OMIM:618291
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypertriglyceridemia, Nonimmune hydrops fetalis, Pericardial effusion, Increased circulating ferr...	OMIM:619313
Acute Peripheral Arterial Occlusion	Limb muscle weakness, Paralysis	ORPHA:90064
Myopathy With Lactic Acidosis, Hereditary	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Dyspnea, Rhabdomyoly...	OMIM:255125
Follicular Lymphoma	Lymphedema, Pleural effusion, Weight loss	ORPHA:545
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a...	OMIM:620203
Combined Oxidative Phosphorylation Defect Type 7	Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Peripheral axona...	ORPHA:254930
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Lymphedema, Atrioventricular block, Emphysema, ...	ORPHA:324
Cardiomyopathy, Dilated, 2E	Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function	OMIM:619492
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe...	OMIM:153400
Galloway-Mowat Syndrome 7	Hypercholesterolemia, Dilated cardiomyopathy, Ventricular septal defect, Edema	OMIM:618348
Dominant Beta-Thalassemia	Failure to thrive in infancy, Hypoplasia of the musculature, Dyspnea, High-output congestive hear...	ORPHA:231226
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Dilated cardiomyopathy, Ventricular septal defect, Hypoalbuminemia	OMIM:616730
Vesicoureteral Reflux 2	Vesicoureteral reflux, Renal hypoplasia	OMIM:610878
Chronic Hiccup	Abnormality of the diaphragm, Recurrent singultus, Weight loss	ORPHA:396
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Apnea, Oculogyric crisis, Limb tremor, Cardiorespirato...	OMIM:608643
Mcdonough Syndrome	Aplasia/Hypoplasia of the abdominal wall musculature, Cachexia	ORPHA:2471
Hyperekplexia 1	Aspiration, Exaggerated startle response, Apnea	OMIM:149400
Ovarian Hyperstimulation Syndrome	Generalized edema, Hypovolemia, Capillary leak, Peripheral edema, Pleural effusion, Ascites, Pulm...	ORPHA:64739
Vocal Cord Paralysis And Ptosis	Vocal cord paralysis	OMIM:193240
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Cataract, Corneal ero...	OMIM:203780
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cerebellar atrophy, Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventric...	OMIM:620066
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased muscle mass, Portal hypertension, Cardiomegaly, Congestive heart failure, Increased cir...	ORPHA:465508
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Idiopathic Achalasia	Bronchitis, Wheezing, Weight loss, Cough, Decreased prealbumin level, Recurrent aspiration pneumonia	ORPHA:930
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Hip contracture, Scapular winging, Limb joint contracture, Shoulder flexion...	OMIM:620369
Arachnoid Cyst	Back pain, Facial palsy, Urinary incontinence, Abdominal pain, Paraparesis, Cranial nerve compres...	ORPHA:2356
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Hypertension, Az...	OMIM:300845
Combined Oxidative Phosphorylation Defect Type 39	Optic disc pallor, Corpus callosum atrophy, Decreased nerve conduction velocity, Cryptorchidism, ...	ORPHA:565624
Carnitine-Acylcarnitine Translocase Deficiency	Elevated creatine kinase after exercise, Sudden episodic apnea, Elevated circulating acylcarnitin...	ORPHA:159
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Loss of ability to walk in early childhood, Inability to walk, Ragged-red muscle fibers, Limb mus...	OMIM:609560
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Myopathy, X-Linked, With Excessive Autophagy	Skeletal muscle atrophy, Flexion contracture, Respiratory insufficiency, Proximal muscle weakness...	OMIM:310440
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Cerebellar atrophy, Decreased distal sensory nerve action potential, Ataxia, Limb ataxia, Gait at...	OMIM:614575
Machado-Joseph Disease Type 3	Abnormal lower motor neuron morphology, Cerebellar atrophy, Skeletal muscle atrophy, Distal lower...	ORPHA:276244
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, EEG ...	ORPHA:206443
Neuroleptic Malignant Syndrome	Hyponatremia, Tachycardia, Elevated circulating creatine kinase concentration, Pulmonary embolism...	ORPHA:94093
Cerebrotendinous Xanthomatosis	Axonal degeneration, Abnormal pyramidal sign, Ataxia, Parkinsonism, Distal amyotrophy, Spastic pa...	ORPHA:909
Cardiomyopathy, Familial Hypertrophic, 18	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial...	OMIM:613874
X-Linked Creatine Transporter Deficiency	Aganglionic megacolon, Ataxia, Cachexia, Chorea, Athetosis, Hypertonia	ORPHA:52503
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Cachexia, Elbow flexion contracture, Spastic tetraplegia, Knee flexion contractu...	ORPHA:371364
Biotinidase Deficiency	Respiratory distress, Alopecia, Apnea, Ataxia, Optic neuropathy, Myelopathy, Optic atrophy, Limb ...	ORPHA:79241
Hsd10 Disease	Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Frontotemporal cerebral atrophy, Myoclo...	ORPHA:391417
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Respiratory insuffici...	ORPHA:1166
Spinal Arteriovenous Metameric Syndrome	Fatigue, Paraparesis, Bone pain, Arthralgia, Gangrene	ORPHA:53721
Acromicric Dysplasia	Decreased nerve conduction velocity	ORPHA:969
Lymphoproliferative Syndrome 1	Pericardial effusion, Increased circulating ferritin concentration, Pleural effusion, Elevated ci...	OMIM:613011
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Prolonged QT interval, Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kin...	OMIM:615351
Cataract 3, Multiple Types	Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract	OMIM:601547
Optic Atrophy 11	Ataxia, Optic nerve hypoplasia, EEG with focal sharp waves, Optic atrophy, Dysmetria, Athetosis, ...	OMIM:617302
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis	OMIM:178650
Ane Syndrome	Motor neuron atrophy, Alopecia, Multiple joint contractures, Generalized amyotrophy	ORPHA:157954
Friedreich Ataxia	Impaired vibratory sensation, Ataxia, Impaired proprioception, Optic atrophy, Limb ataxia, Gait a...	OMIM:229300
Pneumocystosis	Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Nonproductive cough...	ORPHA:723
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Neurofibromatosis, Familial Spinal	Symmetric spinal nerve root neurofibromas, Paraparesis, Neurofibroma, Plexiform neurofibroma, Low...	OMIM:162210
Secondary Intestinal Lymphangiectasia	Intestinal lymphedema, Edema, Right ventricular failure, Lymphedema, Reduced circulating transfer...	ORPHA:90363
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Epistaxis, Pericardial effusion, Dyspnea, Abnormal lung morphology, Subconju...	ORPHA:464329
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Ataxia, Lower limb m...	ORPHA:206448
Alstrom Syndrome	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Congestive heart failure, Asthma, ...	OMIM:203800
Lymphatic Malformation 6	Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Polyhydramnios, Perior...	OMIM:616843
Cutis Laxa-Marfanoid Syndrome	Emphysema, Flexion contracture, Abnormal heart valve morphology, Congenital diaphragmatic hernia	ORPHA:171719
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ...	OMIM:615616
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Skeletal muscle atrophy, Failure to thrive, Decreased serum iron, Flexion contracture, Dilated ca...	ORPHA:89842
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Hematuria, Cataract, Iris coloboma	OMIM:120433
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Portal hypertension, Edema, Polyhydramnios, Hydrops fetalis, Cardiomyopa...	OMIM:232500
Cardiomyopathy, Familial Hypertrophic, 7	Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio...	OMIM:613690
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Facial palsy, Ankle flexion contracture, Type 1 muscle fiber atrophy, Choreoathetosis, Distal amy...	OMIM:617519
48,Xxyy Syndrome	Apnea, Ataxia, Tremor, Asthma, Obesity	ORPHA:10
Hellp Syndrome	Pulmonary edema, Cerebral hemorrhage, Increased body weight, Hypotension, Pleural effusion, Inter...	ORPHA:244242
Nocardiosis	Respiratory distress, Pericarditis, Abnormal heart valve morphology, Pneumonia, Productive cough,...	ORPHA:31204
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Ectopia lentis	ORPHA:1068
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Biotinidase Deficiency	Alopecia, Diffuse cerebral atrophy, Apnea, Ataxia, Tachypnea, Optic atrophy, Diffuse cerebellar a...	OMIM:253260
Microphthalmia, Syndromic 12	Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Hypoplastic left atri...	OMIM:615524
Moynahan Syndrome	Cachexia	ORPHA:2574
Congenital Disorder Of Glycosylation, Type Ij	Tremor, Flexion contracture, Apnea, Respiratory insufficiency	OMIM:608093
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney	ORPHA:90301
Pontocerebellar Hypoplasia, Type 13	Recurrent respiratory infections, Edema, Asthma, Pleural effusion, Failure to thrive	OMIM:618606
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal...	OMIM:263200
Bone Dysplasia, Lethal Holmgren Type	Recurrent respiratory infections, Patent ductus arteriosus, Respiratory insufficiency, Weight los...	ORPHA:1842
Hypokalemic Periodic Paralysis, Type 2	Myopathy, Periodic paralysis	OMIM:613345
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Apnea, Optic atrophy, Respiratory insufficiency, Contractures of th...	ORPHA:521426
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Hy...	ORPHA:69735
Mantle Cell Lymphoma	Fatigue, Weight loss	ORPHA:52416
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Amyotrophic lateral sclerosis, Ataxia, Cerebral cortical atrophy	OMIM:615911
Kcnq2-Related Epileptic Encephalopathy	Apnea, Cerebral atrophy, Dystonia	ORPHA:439218
Typical Nemaline Myopathy	Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Increased variability in muscle f...	ORPHA:171436
Joubert Syndrome 3	Central apnea, Ataxia, Episodic tachypnea, Highly arched eyebrow, Neonatal breathing dysregulation	OMIM:608629
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal...	OMIM:612124
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular tachycardia, Myocardial fibrosis, Palp...	OMIM:613873
Renpenning Syndrome	Skeletal muscle atrophy, Cachexia	ORPHA:3242
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Fai...	OMIM:300952
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hepatic necrosis	OMIM:231530
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Apnea, Ataxia, Atrophy of the spinal cord, Optic atrophy, Brain atrophy, Failure to thrive, Lower...	ORPHA:395
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Palpebral edema, Edema, Pulmonary embolism, Facial edema, Dyspnea, Hyperlipidemia, Respiratory tr...	ORPHA:567546
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Tachypnea, Decreased body weight	OMIM:620085
Beta-Propeller Protein-Associated Neurodegeneration	Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Optic atrophy, Cerebral atrophy, Bradykinesia...	ORPHA:329284
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, El...	ORPHA:26791
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ...	ORPHA:730
Arterial Calcification, Generalized, Of Infancy, 1	Neonatal respiratory distress, Myocardial infarction, Cardiomegaly, Congestive heart failure, Dil...	OMIM:208000
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left ventricular hypertrophy, Left atrial enlargement, Elevated circulat...	OMIM:300280
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Presynaptic Congenital Myasthenic Syndromes	Sudden episodic apnea, Ataxia, Intermittent episodes of respiratory insufficiency due to muscle w...	ORPHA:98914
Congenital Myasthenic Syndrome	Sudden episodic apnea, Ataxia, Intermittent episodes of respiratory insufficiency due to muscle w...	ORPHA:590
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Apnea, Optic atrophy, Respiratory insufficiency, Contractures of th...	OMIM:617527
Cednik Syndrome	Optic atrophy, Ataxia, Abnormality of peripheral nerve conduction	ORPHA:66631
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Ragg...	OMIM:617070
Arterial Tortuosity Syndrome	Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocardi...	ORPHA:3342
Machado-Joseph Disease Type 1	Distal lower limb amyotrophy, Skeletal muscle atrophy, Neurogenic bladder, Facial-lingual fascicu...	ORPHA:276238
Machado-Joseph Disease Type 2	Distal lower limb amyotrophy, Skeletal muscle atrophy, Neurogenic bladder, Facial-lingual fascicu...	ORPHA:276241
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Joint contracture, Optic atrophy	OMIM:615419
Spastic Paraplegia Type 7	Ragged-red muscle fibers, Abnormal pyramidal sign, Babinski sign, Upper limb muscle weakness, Low...	ORPHA:99013
Primary Triglyceride Deposit Cardiomyovasculopathy	Angina pectoris, Elevated circulating creatine kinase concentration, Dyspnea, Hyperlipidemia, Inc...	ORPHA:565612
Gerstmann-Straussler Disease	Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Weight loss, Gait ataxia, Bradyk...	OMIM:137440
Beta-Thalassemia Major	Failure to thrive in infancy, Hypoplasia of the musculature, Dyspnea, High-output congestive hear...	ORPHA:231214
Friedreich Ataxia	Decreased motor nerve conduction velocity, Hand muscle atrophy, Chorea, Impaired proprioception, ...	ORPHA:95
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Bilateral cryptorchidism, Congestive heart failure, Dilated cardiomyopathy,...	ORPHA:2326
Hereditary Sensory And Autonomic Neuropathy Type 1	Pain insensitivity, Impaired temperature sensation, Distal sensory impairment, Distal amyotrophy,...	ORPHA:36386
Congenital Sialidosis Type 2	Abnormal EKG, Edema, Respiratory tract infection, Optic atrophy, Telangiectasia, Abnormal heart m...	ORPHA:93400
Severe X-Linked Intellectual Disability, Gustavson Type	Small for gestational age, Optic atrophy, Contractures of the large joints, Apneic episodes in in...	ORPHA:3078
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Ventricular septal defect, Aganglionic megacolon, Patent ductus arteriosus, Flexion ...	OMIM:613870
D-Glyceric Aciduria	Neonatal respiratory distress, Optic nerve hypoplasia, Patent ductus arteriosus, Nonketotic hyper...	OMIM:220120
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Aminoaciduria, Cataract	ORPHA:2278
Liver Disease, Severe Congenital	Cardiomegaly, Abnormal left ventricular function, Hypocalcemia, Cough, Elevated hepatic iron conc...	OMIM:619991
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Elevated circulating creatine kinase concentration, Elevated circulating...	ORPHA:228305
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema, Congenital diaphragmatic hernia, Abnormal heart morphology	OMIM:614100
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia, Brain at...	ORPHA:314655
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Neuromuscular Oculoauditory Syndrome	Decreased nerve conduction velocity, Knee flexion contracture, Calf muscle hypertrophy, Muscle fi...	OMIM:618733
Combined Oxidative Phosphorylation Defect Type 29	Optic neuropathy, Axonal degeneration, Neurodegeneration, Abnormal autonomic nervous system physi...	ORPHA:478029
Overlap Myositis	Proximal muscle weakness in upper limbs, Abnormal circulating lipid concentration, Elevated circu...	ORPHA:206572
Joubert Syndrome	Aganglionic megacolon, Apnea, Episodic tachypnea, Highly arched eyebrow, Tremor, Ataxia, Abnormal...	ORPHA:475
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Optic disc pallor, Ventricular septal defect, Shortened PR interv...	OMIM:614947
Cataract 8, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:115665
Bethlem Myopathy	Hypoventilation, Reduced maximal expiratory pressure, Multiple joint contractures, Reduced muscle...	ORPHA:610
Infantile Neuroaxonal Dystrophy	Cerebellar atrophy, Ataxia, Flexion contracture, Optic atrophy, Apneic episodes in infancy, Abnor...	ORPHA:35069
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c...	ORPHA:536516
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Ragged-red muscle fiber...	ORPHA:254864
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia	ORPHA:141152
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Cryptorchidism, Patent ductus arteriosus, Tachypnea, C...	OMIM:614857
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Hepatosplenomegaly	OMIM:273680
Scimitar Syndrome	Respiratory distress, Heart block, Abnormal lung morphology, Hypoplasia of the diaphragm, Pulmona...	ORPHA:185
Heart-Hand Syndrome, Spanish Type	Sick sinus syndrome	OMIM:140450
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Cerebellar atrophy, Telangiectasia of the skin, Congenital diaphragmatic hernia, Retinal telangie...	ORPHA:438134
Aniridia 2	Aniridia, Iris coloboma, Cataract, Lens subluxation	OMIM:617141
Whipple Disease	Fatigue, Myositis, Ataxia, Cachexia, Abdominal pain, Abnormal pyramidal sign, Arthralgia, Chest p...	ORPHA:3452
Nestor-Guillermo Progeria Syndrome	Left atrial enlargement, Dyspnea, Flexion contracture, Right bundle branch block, Hypertension, M...	OMIM:614008
Glycogen Storage Disease Ixd	Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn...	OMIM:300559
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Hypomethioninemia, Methylmalonic acidemia, Pulmonary embolism, Atrophy of t...	ORPHA:79282
Bohring-Opitz Syndrome	Recurrent respiratory infections, Facial hypotonia, Apnea, Cardiomegaly, Bilateral wrist flexion ...	ORPHA:97297
Adams-Oliver Syndrome 5	Right atrial enlargement, Pulmonic stenosis, Pulmonary arterial hypertension, Patent foramen oval...	OMIM:616028
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block	Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin	OMIM:609438
Sialidosis Type 1	Decreased nerve conduction velocity, EEG abnormality, Ataxia, Skeletal muscle atrophy	ORPHA:812
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal respiratory distress, Nonimmune hydrops fetalis, Hyperprolinemia, Cardiomyopathy, Pulmon...	OMIM:619003
Porphyria, Acute Hepatic	Respiratory paralysis, Paralysis	OMIM:612740
Double Outlet Right Ventricle	Tachycardia, Failure to thrive, Ventricular septal defect, Tachypnea, Double outlet right ventric...	ORPHA:3426
Infantile Refsum Disease	Facial palsy, Elevated circulating phytanic acid concentration, Optic atrophy, Cardiomyopathy, Ar...	ORPHA:772
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Patent ductus arteriosus, Ventricular septal defect, Pedal edema, Sinus bradycardia	OMIM:126320
Cataract 22, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:609741
Brucellosis	Pericarditis, Lung abscess, Transient ischemic attack, Pneumonia, Elevated circulating C-reactive...	ORPHA:1304
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Pulmonary artery stenosis, Patent ductus arterio...	ORPHA:251071
Chédiak-Higashi Syndrome	Cerebellar atrophy, Hyponatremia, Recurrent respiratory infections, Hypertriglyceridemia, Epistax...	ORPHA:167
Neuroendocrine Tumor Of The Colon	Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Wei...	ORPHA:100080
Chromosome 5Q12 Deletion Syndrome	Ventricular septal defect, Increased nuchal translucency, Patent ductus arteriosus, Macroglossia,...	OMIM:615668
Hyperinsulinism Due To Ucp2 Deficiency	Tachycardia, Large for gestational age, Decreased circulating free fatty acid level, Syncope, Pal...	ORPHA:276556
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu...	OMIM:611819
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Cerebellar atrophy, Optic disc pallor, Ataxia, Tachypnea, Cerebral atrophy, Respiratory failure, ...	OMIM:615838
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Failure to thrive, Apnea, Opisthotonus	OMIM:210200
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle...	OMIM:181405
Leukodystrophy, Hypomyelinating, 5	Decreased motor nerve conduction velocity, Lower limb amyotrophy, Onion bulb formation, Lower lim...	OMIM:610532
Glycogen Storage Disease Due To Aldolase A Deficiency	Exercise-induced rhabdomyolysis, Decreased muscle mass, Elevated creatine kinase after exercise, ...	ORPHA:57
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Limb muscle weakness	OMIM:619133
Idiopathic Bronchiectasis	Myocardial infarction, Crackles, Productive cough, Dyspnea, Wheezing, Cachexia, Respiratory tract...	ORPHA:60033
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Dyspnea, Patent ductus arte...	ORPHA:555877
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject...	ORPHA:444013
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Generalized limb muscle atrophy, Facial diplegia, Cardiomyopathy, Abnormal circulating creatine k...	ORPHA:521411
Sepsis In Premature Infants	Tachycardia, Small for gestational age, Abnormal mucociliary clearance, Elevated circulating C-re...	ORPHA:90051
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Farber Disease	Skeletal muscle atrophy, Paraparesis, Flexion contracture, Arthralgia, Myoclonus, Brain atrophy, ...	ORPHA:333
Oculogastrointestinal Muscular Dystrophy	Skeletal muscle atrophy, Myopathy, Cachexia	ORPHA:1876
Charcot-Marie-Tooth Disease Type 4C	Decreased motor nerve conduction velocity, Cerebellar atrophy, Failure to thrive, Decreased numbe...	ORPHA:99949
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul...	OMIM:617114
Dextrocardia	Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormal lung lobation, Abnormal heart morpho...	ORPHA:1666
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr...	OMIM:618920
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Metachromatic Leukodystrophy	Ataxia, Decreased nerve conduction velocity, Chorea, Optic atrophy, Peripheral demyelination	OMIM:250100
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Abnormal autonomic nervous system ...	ORPHA:101016
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Recurrent respiratory infections, Lymphedema, Dyspnea, Atelectasis, ...	ORPHA:538
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Hypertonia, Cachexia	ORPHA:1389
Juvenile Primary Lateral Sclerosis	Abnormal upper motor neuron morphology, Skeletal muscle atrophy	ORPHA:247604
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Calf muscle hype...	OMIM:613157
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Failure to thrive in infancy, Congestive heart failure, Rhabdomyolysis, ...	ORPHA:746
Fructose-1,6-Bisphosphatase Deficiency	Dyspnea, Apnea, Hyperventilation	OMIM:229700
Myotonia Fluctuans	Stridor, Apnea, Spasticity of facial muscles	ORPHA:99734
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Sarcoidosis, Susceptibility To, 1	Optic neuropathy, Pericardial effusion, Dyspnea, Bronchiectasis, Abnormal pulmonary interstitial ...	OMIM:181000
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Aminoaciduria, Cataract	ORPHA:79238
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Decreased number of peripheral myelinated nerve fibers, Failure to thrive in infancy, Decreased n...	ORPHA:477817
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Tachycardia, Large for gestational age, Decreased circulating free fatty acid level, Syncope, Pal...	ORPHA:276575
Horner Syndrome, Congenital	Paralysis	OMIM:143000
Singleton-Merten Syndrome 1	Recurrent respiratory infections, Mitral valve calcification, Cardiomegaly, Aortic valve calcific...	OMIM:182250
Combined Oxidative Phosphorylation Defect Type 27	Ragged-red muscle fibers, Tetraparesis, Involuntary movements, Upper limb postural tremor	ORPHA:477774
Yao Syndrome	Ventricular hypertrophy, Pericarditis, Asthma, Xerostomia, Weight loss, Pleuritis	OMIM:617321
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Myopathy, Increased variability in mu...	OMIM:125250
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Abnormal EKG, Acute rhabdomyolysis, Elevated circulating creatine kinase c...	ORPHA:480864
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Highly arched eyebrow, Respiratory insufficiency, Type 2 muscle fiber predominance, Increased var...	OMIM:619173
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Rhabdomyolysis, Weight loss, Hypokalemia, Palpitations	OMIM:188580
Vici Syndrome	Recurrent respiratory infections, Failure to thrive, Elevated circulating creatine kinase concent...	OMIM:242840
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Neutrophilic Dermatosis, Acute Febrile	Small vessel vasculitis, Dilated cardiomyopathy, Elevated circulating C-reactive protein concentr...	OMIM:608068
Eosinophilic Fasciitis	Fatigue, Myositis, Weight loss, Arthralgia, Paresthesia, Myalgia, Muscular edema	ORPHA:3165
Bacterial Toxic-Shock Syndrome	Shock, Respiratory distress, Myositis, Tachycardia, Sinusitis, Pneumonia, Elevated circulating cr...	ORPHA:36234
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Skeletal muscle atrophy, Methylmalonic acidemia, Abnormal mitochondrial sha...	ORPHA:17
Refsum Disease, Classic	Cardiomegaly, Congestive heart failure, Elevated circulating phytanic acid concentration, Cardiom...	OMIM:266500
Congenital Tracheomalacia	Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn...	ORPHA:95430
Joubert Syndrome With Renal Defect	Aganglionic megacolon, Apnea, Highly arched eyebrow, Ataxia, Tremor, Abnormal pattern of respiration	ORPHA:220497
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Methionine Malabsorption Syndrome	Tachypnea, White hair	OMIM:250900
Cardiomyopathy, Familial Hypertrophic, 2	Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular septal hypertrophy, Right bundle branc...	OMIM:115195
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Elevated circulating creatine kinase concentration, Respiratory insufficiency due to muscle weakn...	OMIM:607855
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy, Neonatal respiratory distress	ORPHA:254857
Pulmonary Alveolar Microlithiasis	Bronchitis, Nonproductive cough, Tachypnea, Increased circulating surfactant protein level, Oxyge...	ORPHA:60025
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Sick Sinus Syndrome 3, Susceptibility To	Sick sinus syndrome	OMIM:614090
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Combined Oxidative Phosphorylation Deficiency 29	Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Global brain atrophy	OMIM:616811
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Cerebellar atrophy, Neonatal respiratory distress, Apnea, Ataxia, Cerebral ...	OMIM:618426
Lethal Congenital Contracture Syndrome 9	Elbow extension contracture, Polyhydramnios, Centrally nucleated skeletal muscle fibers, Flexion ...	OMIM:616503
Myelopathy, Htlv-1-Associated	Abnormal pyramidal sign, Spastic paraparesis	OMIM:159580
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Decreased motor nerve conduction velocity, Failure to thrive, Ataxia, Facial palsy, Foot joint co...	ORPHA:456312
Neuroendocrine Tumor Of The Rectum	Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Wei...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Wei...	ORPHA:100082
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Hypsar...	ORPHA:485421
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Ataxia, Involuntary movements, Babinski sign, Clumsiness, Athetosis, Distal amyotrophy, Loss of a...	OMIM:271245
Familial Mediterranean Fever	Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Elevated circulati...	OMIM:249100
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Combined Oxidative Phosphorylation Deficiency 49	Ragged-red muscle fibers, Difficulty walking	OMIM:619024
Central Hypoventilation Syndrome, Congenital, 1	Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Aganglionic megacolon, Hypoxemia, A...	OMIM:209880
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Elevated circulating creatine kinase concentration, Respiratory insufficiency, Cerebral atrophy, ...	ORPHA:324525
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Neonatal respiratory distress, Dystonia, Ataxia, Crackles, Asthma, Tachypne...	OMIM:610978
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Optic atrophy, Apnea, Cerebral atrophy	OMIM:261680
Tenorio Syndrome	Apnea, Recurrent pneumonia, Macroglossia, Cerebral cortical atrophy, Thick eyebrow, Hypertrichosis	OMIM:616260
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Epistaxis, Periorbital edema, Congestive heart failure, Vasculitis, ...	ORPHA:33226
Propionic Acidemia	Cardiomyopathy, Arrhythmia, Hyperammonemia	ORPHA:35
Igg4-Related Pachymeningitis	Low back pain, Somatic sensory dysfunction, Paraparesis, Abnormality of cervical plexus, Abnormal...	ORPHA:449427
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force...	OMIM:610913
D-2-Hydroxyglutaric Aciduria 1	Apnea, Inspiratory stridor	OMIM:600721
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Tachycardia, Large for gestational age, Syncope, Palpitations, Hypertrophic cardiomyopathy, Incre...	ORPHA:276580
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cerebellar atrophy, Apnea, Ataxia, Gait ataxia, Choreoathetosis, Opisthotonus, Limb hypertonia	OMIM:619580
Gm1 Gangliosidosis	Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of finger, Congestive ...	ORPHA:354
Carnitine Palmitoyl Transferase 1A Deficiency	Skeletal muscle atrophy, Sudden cardiac death, Arrhythmia, Transient hyperlipidemia, Hypertrophic...	ORPHA:156
Alg1-Cdg	Cerebellar atrophy, Cerebral atrophy, Abnormal heart morphology, Cardiomyopathy, Respiratory fail...	ORPHA:79327
Joubert Syndrome With Oculorenal Defect	Aganglionic megacolon, Ataxia, Apnea, Highly arched eyebrow, Tachypnea	ORPHA:2318
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Cardiomyopathy, Flexion contracture, Myopathy, Nemaline bodies	OMIM:616549
Bilateral Perisylvian Polymicrogyria	Lower limb spasticity, Paraparesis, Flexion contracture, Oromotor apraxia, Spastic tetraplegia, D...	ORPHA:98889
Zygomycosis	Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Epistaxis, Hematemesis, Myocarditis, Perior...	ORPHA:73263
Hypoadrenocorticism, Familial	Apnea	OMIM:240200
Huntington Disease-Like 1	Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Wei...	ORPHA:157941
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch...	ORPHA:90065
Perry Syndrome	Hypoventilation, Central hypoventilation, Tremor, Respiratory insufficiency, Weight loss, Dystoni...	OMIM:168605
Aicardi-Goutieres Syndrome 9	Pericarditis, Portal hypertension, Edema, Pericardial effusion, Optic atrophy, Cerebral atrophy, ...	OMIM:619487
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Small for gestational age, Episodic tachypnea, Hyperammonemia, Elevated...	OMIM:615160
Neuraminidase Deficiency	Skeletal muscle atrophy, Cardiomegaly, Facial edema, Hydrops fetalis, Cardiomyopathy, Ascites	OMIM:256550
Holocarboxylase Synthetase Deficiency	Respiratory distress, Alopecia, Ataxia, Tachypnea, Weight loss	ORPHA:79242
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Apneic episodes in infancy, Episodic tachypnea	ORPHA:163961
Citrullinemia Type I	Failure to thrive, Torticollis, Tachypnea, Ataxia	ORPHA:247525
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Tricuspid regurgitation, Congenital diaphragmatic hernia, Dyspnea, Dilated ...	ORPHA:2556
Serkal Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary hypoplasia, Pulmonic stenos...	ORPHA:139466
Cardiocranial Syndrome, Pfeiffer Type	Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, T...	ORPHA:2872
Isolated Thyroid-Stimulating Hormone Deficiency	Failure to thrive, Facial edema, Macroglossia, Bradycardia, Macroorchidism, Hypercholesterolemia,...	ORPHA:90674
Sarcoidosis	Abnormal pleura morphology, Abnormal cardiac ventricular function, Facial palsy, Portal hypertens...	ORPHA:797
Coats Disease	Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology	ORPHA:190
Primary Lateral Sclerosis, Juvenile	Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, Spa...	OMIM:606353
Leber Congenital Amaurosis 7	Keratoconus, Cataract	OMIM:613829
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, Ataxia, Aganglionic megacolon, Short-segment ag...	OMIM:609136
Combined Oxidative Phosphorylation Deficiency 33	Cardiac arrest, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy,...	OMIM:617713
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Edema, Macroglossia, Bradycardia, Neonatal hyperbiliru...	ORPHA:90673
Encephalitis Lethargica	Upper limb muscle weakness, Bradycardia, Hyperventilation	ORPHA:83600
Alternating Hemiplegia Of Childhood	Respiratory distress, Facial hypotonia, Apnea, Ataxia, Tremor, Chorea, Choreoathetosis, Abnormal ...	ORPHA:2131
Neuronal Intestinal Pseudoobstruction	Patent ductus arteriosus, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia	ORPHA:99811
Mitochondrial Complex I Deficiency, Nuclear Type 2	Apnea, Hypercapnia, Respiratory insufficiency, Apneic episodes in infancy, Dystonia	OMIM:618222
Primary Sclerosing Cholangitis	Portal hypertension, Spider hemangioma, Congestive heart failure, Weight loss, Hypoalbuminemia, G...	ORPHA:171
Butyrylcholinesterase Deficiency	Paralysis	ORPHA:132
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Cataract	OMIM:619082
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens...	ORPHA:369929
De Sanctis-Cacchione Syndrome	Ataxia, Axonal degeneration, Optic atrophy, Scissor gait, Cerebral atrophy, Babinski sign, Choreo...	OMIM:278800
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Fetal Encasement Syndrome	Bilateral trilobed lung, Tetralogy of Fallot, Congenital diaphragmatic hernia	OMIM:613630
Majeed Syndrome	Cachexia, Flexion contracture, Bone pain, Weight loss, Arthralgia, Myalgia, Failure to thrive	ORPHA:77297
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Situs inversus totalis, Cryptorchidism, Optic atrophy, Cardiomyopathy,...	OMIM:249270
Huntington Disease	Caudate atrophy, Clonus, Involuntary movements, Rigidity, Chorea, Babinski sign, Cerebral atrophy...	ORPHA:399
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Optic atrophy, Hyperammonemia, Dehydration, Cardiomyopathy, Failure to thrive	ORPHA:79312
Glossopharyngeal Neuralgia	Cranial nerve compression, Jaw claudication, Weight loss, Abnormal glossopharyngeal nerve morphol...	ORPHA:221098
Mitochondrial Membrane Protein-Associated Neurodegeneration	Urinary incontinence, Bowel incontinence, Parkinsonism, Rigidity, Babinski sign, Optic atrophy, H...	ORPHA:289560
Emanuel Syndrome	Recurrent respiratory infections, Torticollis, Truncus arteriosus, Ventricular septal defect, Con...	OMIM:609029
Joubert Syndrome With Ocular Defect	Aganglionic megacolon, Apnea, Highly arched eyebrow, Ataxia, Tremor, Abnormal pattern of respiration	ORPHA:220493
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia	Atrophy of the spinal cord, Truncal ataxia, Spastic paraparesis, Palatal tremor, Cerebral cortica...	OMIM:113610
Combined Oxidative Phosphorylation Deficiency 39	Cerebellar atrophy, Recurrent respiratory infections, Flexion contracture, Cerebral atrophy, Sinu...	OMIM:618397
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Limb-girdle muscle weakness, Optic atrophy, Myopathy, Cardio...	ORPHA:1215
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Bicuspid aortic valve, Polyhydramnios, Lymphedema, Cryptorchidism, Mitral regurgitation, Chylotho...	OMIM:613563
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Right ventricular dilatation, Myopathy, Restrictive ventilatory defect, Abnormal circulating crea...	ORPHA:369840
Congenital Fiber-Type Disproportion Myopathy	Polyhydramnios, Flexion contracture, Knee flexion contracture, Aspiration pneumonia, Foot dorsifl...	ORPHA:2020
Cryptococcosis	Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Pleural effusion, Co...	ORPHA:1546
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Increased variability in muscle fiber diameter, Stridor, Failure to thrive	OMIM:615595
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati...	ORPHA:88618
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Optic nerve hypoplasia, Cryptorchidism, Dilated cardiomyopathy, Mitral...	ORPHA:261250
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Acute rhabdomyolysis, Cardiac arrest, Elevated circulating creatine kinase concentration, Elevate...	OMIM:616878
Hemochromatosis, Type 2B	Congestive heart failure, Elevated transferrin saturation, Increased circulating ferritin concent...	OMIM:613313
Greig Cephalopolysyndactyly Syndrome	Abnormal muscle fiber morphology, Cryptorchidism, Abnormal heart morphology, Camptodactyly of toe...	OMIM:175700
Naxos Disease	Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi...	ORPHA:34217
Hemochromatosis, Type 4	Elevated transferrin saturation, Cardiomyopathy, Arrhythmia, Increased circulating ferritin conce...	OMIM:606069
Hypophosphatasia, Infantile	Stillbirth, Failure to thrive, Apnea	OMIM:241500
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Pneumonia, Edema, Respiratory tract infection, Dyspnea, Myocarditis, Hyperkalemia, ...	ORPHA:544482
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Papilledema, Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral val...	ORPHA:371428
Hec Syndrome	Polyhydramnios, Vaginal hydrocele, Respiratory insufficiency, Cardiomyopathy, Endocardial fibroel...	ORPHA:2119
Phosphoribosylpyrophosphate Synthetase Superactivity	Cardiomyopathy, Arrhythmia, Hypertension, Hyperuricemia	ORPHA:3222
Peroxisome Biogenesis Disorder 2A (Zellweger)	Apnea, Optic nerve dysplasia, Joint contracture of the hand, Camptodactyly, Failure to thrive	OMIM:214110
Boucher-Neuhauser Syndrome	Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Distal amyotrophy, Abnormal upp...	OMIM:215470
Senior-Loken Syndrome	Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis, Cataract	ORPHA:3156
3-Methylglutaconic Aciduria, Type Viii	Apnea, Tremor, Cerebral atrophy, Hypopnea, Respiratory failure, Dystonia, Neonatal death, Respira...	OMIM:617248
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Small for gestational age, Cardiomegaly, Tachypnea, Hypertension, Pulmonary arterial hypertension	OMIM:613320
Acute Lung Injury	Shock, Respiratory distress, Pneumonia, Elevated circulating C-reactive protein concentration, Di...	ORPHA:178320
American Trypanosomiasis	Aganglionic megacolon, Edema, Periorbital edema, Myocarditis, Congestive heart failure, Dyspnea, ...	ORPHA:3386
Laryngeal Neuroendocrine Tumor	Neuroendocrine neoplasm, Chronic fatigue, Weight loss	ORPHA:100083
Dyskeratosis Congenita, Autosomal Dominant 2	Failure to thrive, Dilated cardiomyopathy, Pulmonary fibrosis	OMIM:613989
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Edema, Dyspnea, Dilated cardiomyopathy, Pneumothorax, Abnormal b...	ORPHA:79404
Perry Syndrome	Tremor, Central hypoventilation, Weight loss	ORPHA:178509
Mitochondrial Complex I Deficiency, Nuclear Type 1	Cerebellar atrophy, Skeletal muscle atrophy, Optic disc pallor, Apnea, Ataxia, Optic neuropathy, ...	OMIM:252010
Creatine Phosphokinase, Elevated Serum	Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa...	OMIM:123320
Yuan-Harel-Lupski Syndrome	Decreased nerve conduction velocity, Failure to thrive, Distal sensory impairment, Gait ataxia	OMIM:616652
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki...	ORPHA:363654
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Respiratory failure requiring assisted ventilation, Skeletal muscle atrophy...	OMIM:211530
Mucolipidosis Type Ii	Aortic regurgitation, Hip contracture, Respiratory failure requiring assisted ventilation, Abnorm...	ORPHA:576
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Skeletal muscle atrophy, Resting tremor, Facial palsy, Parkinsonism, Rigidity, Ragged-red muscle ...	OMIM:157640
Cholestasis, Progressive Familial Intrahepatic, 5	Nonimmune hydrops fetalis, Elevated circulating alpha-fetoprotein concentration, Conjugated hyper...	OMIM:617049
Hermansky-Pudlak Syndrome 10	Dystonia, Apnea, Cerebral atrophy, Albinism	OMIM:617050
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Tempi Syndrome	Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Hypoxemia, Abnormality of...	ORPHA:284227
Myotonic Dystrophy 2	Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio...	OMIM:602668
Autosomal Recessive Spastic Paraplegia Type 77	Paroxysmal dystonia, Sudden episodic apnea, Dystonia, Lower limb amyotrophy, Intention tremor	ORPHA:466722
Allergic Bronchopulmonary Aspergillosis	Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, Cough, Pulmonary arterial hyperte...	ORPHA:1164
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Cataract, Hypospadias	ORPHA:1381
Gaucher Disease, Type Ii	Apnea, Cerebral atrophy, Stridor, Cough, Failure to thrive, Recurrent aspiration pneumonia	OMIM:230900
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Corneal opacity, Hematuria, Posterior embryotoxon, Iris coloboma	ORPHA:1473
Sweet Syndrome	Small vessel vasculitis, Myositis, Dilated cardiomyopathy, Elevated circulating C-reactive protei...	ORPHA:3243
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Optic atrophy, Cerebral at...	OMIM:617710
Rhizomelic Chondrodysplasia Punctata, Type 5	Skeletal muscle atrophy, Recurrent respiratory infections, Asthma, Contractures of the large join...	OMIM:616716
Auriculocondylar Syndrome 1	Apnea	OMIM:602483
Coach Syndrome 2	Apneic episodes in infancy	OMIM:619111
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Hyperkalemia, Hy...	OMIM:145600
Refsum Disease	Heart block, Skeletal muscle atrophy, Respiratory insufficiency, Cardiomyopathy	ORPHA:773
Congenital Muscular Dystrophy With Cerebellar Involvement	Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Optic nerve hypoplasia, R...	ORPHA:370959
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail...	ORPHA:1880
Short Stature, Microcephaly, And Endocrine Dysfunction	Cryptorchidism, Dilated cardiomyopathy, Truncal obesity, Abnormal circulating lipid concentration...	OMIM:616541
Cronkhite-Canada Syndrome	Fatigue, Cachexia, Abdominal pain	ORPHA:2930
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Skeletal muscle atrophy, Limb muscle weakness, Paralysis	OMIM:612300
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula...	ORPHA:99827
Legionnaires Disease	Hyponatremia, Pericarditis, Abnormal pleura morphology, Myocarditis, Abnormal lung morphology, Re...	ORPHA:549
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Flexion contracture, Cachexia, Weight loss	ORPHA:1979
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Apnea	ORPHA:1129
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis, Global brain atrophy	OMIM:619132
Undifferentiated Pleomorphic Sarcoma	Fatigue, Weight loss	ORPHA:2023
Postpoliomyelitis Syndrome	Hypoventilation, Respiratory insufficiency, Skeletal muscle atrophy	ORPHA:2942
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Cerebellar atrophy, Skeletal muscle atrophy, Pericardial effusion, Optic atrophy, Cardiomyopathy	OMIM:620089
Tonne-Kalscheuer Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Abnormal heart morphology, Pulmonary hypoplasia,...	OMIM:300978
Kikuchi-Fujimoto Disease	Palpebral edema, Elevated circulating C-reactive protein concentration, Myocarditis, Vasculitis, ...	ORPHA:50918
Gaucher Disease, Perinatal Lethal	Respiratory distress, Apnea, Opisthotonus, Decreased body weight, Neonatal death, Arthrogryposis ...	OMIM:608013
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Cachexia	ORPHA:93941
Non-Functioning Paraganglioma	Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Cranial nerve compression, Weight l...	ORPHA:94080
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Neurodegenera...	OMIM:300894
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Failure to thrive in infancy, Wheezing, Hyperkalemia, Dehydration, Weight loss, Hyp...	ORPHA:171876
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Spastic ataxia, Cerebral palsy, Spastic tetraparesis, Paraparesis, Failure to thrive	OMIM:620358
Sting-Associated Vasculopathy, Infantile-Onset	Skeletal muscle atrophy, Myositis, Recurrent respiratory infections, Elevated circulating C-react...	OMIM:615934
Hurler-Scheie Syndrome	Abnormal nerve conduction velocity, Cardiomyopathy, Rhinitis, Abnormal heart valve morphology	ORPHA:93476
Orofaciodigital Syndrome Xvi	Apnea, Ataxia	OMIM:617563
Mitochondrial Complex I Deficiency, Nuclear Type 29	Dyspnea, Abnormal heart morphology, Palpitations, Hyperalaninemia, Hypertrophic cardiomyopathy, F...	OMIM:618250
Variegate Porphyria	Paralysis	OMIM:176200
Hypokalemic Periodic Paralysis, Type 1	Myopathy, Periodic paralysis	OMIM:170400
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Hypertriglyceridemia, Spontaneous pneumothorax, Hypercholesterolemia, Sm...	OMIM:606721
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney	OMIM:608022
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Apnea, Large for gestational age	ORPHA:79644
Mucopolysaccharidosis Type 1	Sinusitis, Apnea, Low anterior hairline, Optic atrophy, Abnormal tendon morphology, Paresthesia, ...	ORPHA:579
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Scapular winging, Decreased compound muscle action potential amplitude, Small thenar eminence, Di...	OMIM:620080
Dermatomyositis	Recurrent respiratory infections, Pericarditis, Telangiectasia of the skin, Myocardial infarction...	ORPHA:221
Lymphangiectasia, Pulmonary, Congenital	Recurrent respiratory infections, Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Ede...	OMIM:265300
Rheumatoid Arthritis	Elevated circulating C-reactive protein concentration, Vasculitis, Weight loss, Joint swelling, D...	OMIM:180300
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Hydrops fetalis, Macroglo...	OMIM:617022
Ring Chromosome 22 Syndrome	Azoospermia, Pleural effusion, Edema, Lymphedema	ORPHA:1446
Gillessen-Kaesbach-Nishimura Syndrome	Polyhydramnios, Congenital diaphragmatic hernia, Flexion contracture, Abnormal lung lobation, Abn...	OMIM:263210
Pyruvate Dehydrogenase Deficiency	Ataxia, Tremor, Dyspnea, Tachypnea, Choreoathetosis, Dystonia	ORPHA:765
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Dila...	ORPHA:363623
Neuroendocrine Tumor Of Stomach	Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Hem...	ORPHA:100075
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Cachexia	ORPHA:1438
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Ascites, Weight loss	ORPHA:2198
Giant Cell Arteritis	Pericarditis, Epistaxis, Sudden cardiac death, Abnormal pleura morphology, Recurrent pharyngitis,...	ORPHA:397
Meige Disease	Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, Lymphedema, Peri...	ORPHA:90186
Sinus Node Disease And Myopia	Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin	OMIM:182190
Analbuminemia	Edema, Patent ductus arteriosus, Elevated circulating transferrin concentration, Increased LDL ch...	OMIM:616000
Fryns Syndrome	Ventricular septal defect, Aganglionic megacolon, Polyhydramnios, Large for gestational age, Cryp...	OMIM:229850
Cataract 39, Multiple Types	Lamellar cataract, Anterior polar cataract, Developmental cataract	OMIM:615188
Mitochondrial Complex I Deficiency, Nuclear Type 9	Neonatal death, Hypoventilation, Breathing dysregulation	OMIM:618232
Marburg Hemorrhagic Fever	Shock, Pericarditis, Tachycardia, Elevated circulating creatine kinase concentration, Hyperamylas...	ORPHA:99826
Hereditary Motor And Sensory Neuropathy, Type Iic	Hand muscle atrophy, Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Decre...	OMIM:606071
Pseudo-Torch Syndrome 3	Apnea, Respiratory insufficiency	OMIM:618886
Serotonin Syndrome	Tachycardia, Rhabdomyolysis, Tachypnea, Hypertension, Hypotension, Abnormality of the autonomic n...	ORPHA:43116
Atrial Fibrillation, Familial, 11	Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ...	OMIM:614049
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, Focal segmental glomerulosclerosis, ...	OMIM:617303
Alveolar Echinococcosis	Pulmonary cyst, Abnormal pericardium morphology, Portal hypertension, Dyspnea, Pedal edema, Abnor...	ORPHA:284
Lethal Ataxia With Deafness And Optic Atrophy	Decreased motor nerve conduction velocity, Ataxia, Optic atrophy, EEG with focal epileptiform dis...	ORPHA:1187
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Coccidioidomycosis	Respiratory distress, Pericarditis, Pneumonia, Vasculitis, Vasospasm, Cerebral ischemia, Pleural ...	ORPHA:228123
Xeroderma Pigmentosum, Complementation Group B	Decreased nerve conduction velocity, Optic atrophy, Ataxia, Cerebellar atrophy	OMIM:610651
Hyperkalemic Periodic Paralysis	Skeletal muscle atrophy, Periodic hyperkalemic paralysis, Cerebral palsy, Flexion contracture, Sk...	ORPHA:682
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Cachexia	ORPHA:2774
Emanuel Syndrome	Recurrent respiratory infections, Multiple joint contractures, Truncus arteriosus, Ventricular se...	ORPHA:96170
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Microphthalmia, Syndromic 9	Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Agenesis of pulmonary...	OMIM:601186
Developmental And Epileptic Encephalopathy 82	Spastic paraparesis, Spastic tetraplegia, Cerebral atrophy, Decreased body weight	OMIM:618721
Angioedema, Hereditary, 1	Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration, Abdominal pain	OMIM:106100
Obesity-Hypoventilation Syndrome	Hypoventilation, Obesity	OMIM:257500
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Hypoventilation, Neonatal respiratory distress, Skeletal muscle atrophy, Sc...	ORPHA:98915
Hennekam Syndrome	Recurrent respiratory infections, Camptodactyly of finger, Lymphedema, Pericardial effusion, Pulm...	ORPHA:2136
Fusariosis	Myositis, Sinusitis, Lung abscess, Pneumonia, Productive cough, Hypersensitivity pneumonitis, Bro...	ORPHA:228119
Myasthenic Syndrome, Congenital, 21, Presynaptic	Weakness of facial musculature, Apnea, Respiratory insufficiency, Knee flexion contracture	OMIM:617239
Cystic Echinococcosis	Multiple pulmonary cysts, Pulmonary cyst, Abnormality of the testis size, Asthma, Weight loss, Ab...	ORPHA:400
Carnitine Palmitoyltransferase Ii Deficiency	Neonatal respiratory distress, Elevated circulating creatine kinase concentration, Elevated circu...	ORPHA:157
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hand tremor, Periodic paralysis	OMIM:609153
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Abnormal muscle fiber protein expression	ORPHA:330054
Multicentric Carpotarsal Osteolysis Syndrome	Hypertension, Congenital diaphragmatic hernia	OMIM:166300
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Cystic renal dysplasia, Enlarged kidney	OMIM:615415
Heart Block, Congenital	Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no...	OMIM:234700
Genitopatellar Syndrome	Sparse scalp hair, Hip contracture, Apnea, Knee flexion contracture, Fine hair, Arthrogryposis mu...	ORPHA:85201
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate morphology, Hypo...	OMIM:620294
Ohdo Syndrome, Sbbys Variant	Cryptorchidism, Dilated cardiomyopathy	OMIM:603736
Double Outlet Left Ventricle	Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Cryptor...	ORPHA:3427
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Urethral atresia, Hydronephrosis, Enlarged kidney	OMIM:314390
Warburg Micro Syndrome 4	Decreased motor nerve conduction velocity, Cerebellar atrophy, Decreased muscle mass, Flexion con...	OMIM:615663
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Abnormal skeletal muscle morphology, Str...	ORPHA:142
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Neutral Lipid Storage Myopathy	Hypertriglyceridemia, Hand muscle weakness, Fatty replacement of skeletal muscle, Congestive hear...	ORPHA:98908
Metachromatic Leukodystrophy, Late Infantile Form	Decreased nerve conduction velocity, Progressive gait ataxia, Optic atrophy, Gait ataxia	ORPHA:309256
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Right ventricular dilata...	OMIM:619705
Drug Reaction With Eosinophilia And Systemic Symptoms	Cardiac arrest, Dyspnea, Myocarditis, Angioedema, Weight loss, Interstitial pneumonitis, Cough	ORPHA:139402
Long Qt Syndrome 14	Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT...	OMIM:616247
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Diffuse cerebral atrophy, Elevated circulating creatine kinase concentration,...	OMIM:607426
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Reduced vital capacity, Cryptorchidism, Flexion contracture, Respiratory insufficiency, Arthrogry...	ORPHA:178148
Intellectual Developmental Disorder, Autosomal Dominant 54	Cerebellar atrophy, Small for gestational age, Apnea, Ataxia, Sparse hair, Hyperventilation	OMIM:617799
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Silver-Russell Syndrome	Decreased muscle mass, Failure to thrive in infancy, Cachexia, Obesity, Arthralgia	ORPHA:813
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Elevated circulating creatine kinase concentration, Flexion contracture, Brain atrophy, Muscle fi...	OMIM:620240
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes...	ORPHA:348
Oligomeganephronia	Pulmonary venous occlusion, Small for gestational age, Congenital diaphragmatic hernia, Secundum ...	ORPHA:2260
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Restrictive ventilato...	ORPHA:663
Focal Myositis	Myositis, Myalgia, Weight loss	ORPHA:48918
Mucopolysaccharidosis Type 3	Recurrent sinopulmonary infections, Cardiomegaly, Respiratory tract infection, Flexion contractur...	ORPHA:581
Joubert Syndrome With Hepatic Defect	Apnea, Ataxia, Highly arched eyebrow, Tremor, Optic disc coloboma, Abnormal pattern of respiration	ORPHA:1454
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval	OMIM:220400
Orofaciodigital Syndrome Type 6	Apnea, Episodic tachypnea, Highly arched eyebrow, Ataxia, Tremor, Failure to thrive	ORPHA:2754
Primary Lateral Sclerosis, Adult, 1	Abnormal upper motor neuron morphology	OMIM:611637
Isolated Aniridia	Aniridia, Cataract, Peters anomaly	ORPHA:250923
Choreoacanthocytosis	Caudate atrophy, Elevated circulating creatine kinase concentration, Peroneal muscle atrophy, Dil...	ORPHA:2388
Colchicine Poisoning	Respiratory distress, Hyponatremia, Myocarditis, Congestive heart failure, Hypovolemia, Abnormal ...	ORPHA:31824
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Portal hypertension, Elevated circulating C-reactive protein concentration, Raynaud phenomenon, V...	OMIM:615688
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Paresthesia, Cachexia, Abdominal pain	OMIM:175500
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Spasticity, Optic atrophy, Ataxia, Cachexia	ORPHA:220295
Wolfram Syndrome	Central apnea, Ataxia, Optic atrophy, Respiratory insufficiency, Myopathy, Abnormal autonomic ner...	ORPHA:3463
Seckel Syndrome 9	Recurrent respiratory infections, Ventricular septal defect, Small for gestational age, Congenita...	OMIM:616777
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Con...	ORPHA:505248
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Cerebral atrophy, Right ventricular dilatation, Myopathy, Restrictive ventilatory defect, Limb-gi...	ORPHA:369847
Liposarcoma	Fatigue, Weight loss, Paresthesia, Abdominal pain	ORPHA:69078
Eisenmenger Syndrome	Respiratory distress, Elevated circulating C-reactive protein concentration, Ventricular tachycar...	ORPHA:97214
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Cataract, Cystic renal dysplasia, Ectopic kidney	OMIM:613730
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria	ORPHA:251004
Prune1-Related Neurological Syndrome	Cerebellar atrophy, Clonus, Spastic tetraparesis, Optic atrophy, Cerebral atrophy, Tongue fascicu...	ORPHA:544469
Desmoplastic Small Round Cell Tumor	Weight loss, Cachexia, Abdominal pain	ORPHA:83469
15Q24 Microdeletion Syndrome	Small for gestational age, Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Abnormal hea...	ORPHA:94065
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ...	OMIM:194080
Felty Syndrome	Recurrent respiratory infections, Pericarditis, Sinusitis, Recurrent pharyngitis, Recurrent pneum...	ORPHA:47612
Noonan Syndrome 1	Ventricular septal defect, Failure to thrive in infancy, Lymphedema, Cryptorchidism, Patent ductu...	OMIM:163950
Primary Myelofibrosis	Fatigue, Flank pain, Constitutional symptom, Cachexia	ORPHA:824
Gaucher Disease, Type Iii	Spastic paraparesis, Ataxia, Myoclonus, Decreased body weight	OMIM:231000
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, ...	OMIM:616239
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Left ventri...	ORPHA:251274
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Edema, Lymphedema, Optic atrophy, Chylothorax, Atrial septal defect, Pleural effusion	ORPHA:2526
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Elevated circulating...	ORPHA:90060
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezin...	ORPHA:79127
Glass Syndrome	Facial hypotonia, Apnea, Long eyelashes, Camptodactyly, Sparse hair	OMIM:612313
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Recurrent respiratory infections, Sudden cardiac death, Myocardial i...	ORPHA:36426
Paget Disease Of Bone 2, Early-Onset	Paraparesis, Bone pain, Tetraparesis	OMIM:602080
Joubert Syndrome 1	Central apnea, Optic disc pallor, Ataxia, Episodic tachypnea, Highly arched eyebrow, Optic disc c...	OMIM:213300
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Edema, Right ventricular failure, Arterial occlusion, Weight loss, Palpitatio...	ORPHA:100078
Pellagra-Like Syndrome	Cataract	OMIM:260650
Autosomal Recessive Spastic Paraplegia Type 20	Impaired vibratory sensation, Skeletal muscle atrophy, Speech apraxia, Babinski sign, Slurred spe...	ORPHA:101000
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cerebellar atrophy, Cardiomegaly, Congestive heart failure, Optic atrophy, Cardiomyopathy, Limb m...	OMIM:619259
Pagod Syndrome	Sudden cardiac death, Spina bifida, Situs inversus totalis, Congenital diaphragmatic hernia, Opti...	ORPHA:991
Foix-Alajouanine Syndrome	Distal lower limb amyotrophy, Back pain, Somatic sensory dysfunction, Low back pain, Urinary inco...	ORPHA:79093
Cerebral Cavernous Malformations 3	Paralysis	OMIM:603285
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Parkinsonism, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia, Deposits immunoreactive...	ORPHA:1020
Cutis Laxa, Autosomal Recessive, Type Ib	Congenital diaphragmatic hernia, Emphysema, Bradycardia, Pulmonary artery aneurysm, Pulmonary art...	OMIM:614437
Joubert Syndrome 2	Central apnea, Ataxia, Episodic tachypnea, Optic disc coloboma, Failure to thrive, Neonatal breat...	OMIM:608091
Tetrasomy 12P	Cachexia	ORPHA:884
Ovarian Fibroma	Pleural effusion, Ascites	ORPHA:314473
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Dyspnea, Elevated circulating creatinine concentration, De...	ORPHA:230
Rhabdoid Tumor	Hypercalcemia, Respiratory insufficiency, Weight loss, Hypertension, Internal hemorrhage	ORPHA:69077
Lyme Disease	Joint swelling, Arrhythmia, Atrioventricular block	ORPHA:91546
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Schwartz-Jampel Syndrome	Abnormal eyebrow morphology, Hip contracture, Skeletal muscle atrophy, Apnea, Shoulder flexion co...	ORPHA:800
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Cataract, Band keratopathy, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasti...	OMIM:604278
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Somatic sensory dysfunction, Thick hair, Tremor, Increased variability in musc...	ORPHA:502423
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Atrioventricular block, Cardiorespiratory arrest, Respiratory insufficiency, Arrhythmia	ORPHA:93317
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Skeletal muscle atrophy, Abnormal peripheral nerve morphology by anatomical site, Abnormal periph...	ORPHA:168563
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Classic Hodgkin Lymphoma	Fatigue, Ataxia, Bone pain, Weight loss, Chest pain	ORPHA:391
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Apnea, Supernumerary nipple, Tachypnea, Abnormal optic disc morphology, Failure to thrive, Recurr...	ORPHA:397715
Epidermolysis Bullosa With Diaphragmatic Hernia	Congenital diaphragmatic hernia	OMIM:226735
Cooper-Jabs Syndrome	Respiratory insufficiency, Ventricular septal defect, Camptodactyly of finger, Congenital diaphra...	ORPHA:1488
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Enlarged kidney, ...	OMIM:232200
Chediak-Higashi Syndrome	Decreased nerve conduction velocity, Ataxia, Foot dorsiflexor weakness, Neurodegeneration	OMIM:214500
Meacham Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Cryptorchidis...	ORPHA:3097
Myopia, High, With Cataract And Vitreoretinal Degeneration	Cataract, Lens subluxation	OMIM:614292
Lethal Congenital Contracture Syndrome 1	Skeletal muscle atrophy, Hypoplasia of the musculature, Paucity of anterior horn motor neurons, N...	OMIM:253310
Aniridia 3	Aniridia, Cataract	OMIM:617142
Combined Oxidative Phosphorylation Deficiency 11	Polyhydramnios, Cardiomyopathy, Respiratory failure, Myopathy, Cerebral cortical atrophy	OMIM:614922
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Raynaud phenomenon, Congestive ...	ORPHA:91139
Familial Cervical Artery Dissection	Facial palsy, Paralysis	ORPHA:36382
Stuve-Wiedemann Syndrome 1	Apnea, Impaired pain sensation, Elbow flexion contracture, Respiratory insufficiency, Knee flexio...	OMIM:601559
Xp21 Deletion Syndrome	Calf muscle hypertrophy, Myopathy, Decreased muscle mass, Apneic episodes in infancy	ORPHA:261476
Pancreatic And Cerebellar Agenesis	Failure to thrive, Flexion contracture, Apnea, Optic nerve hypoplasia	OMIM:609069
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Recurrent respiratory infections, Pericarditis, Recurrent intrapulmo...	ORPHA:900
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H...	OMIM:272750
Slc39A8-Cdg	Cerebellar atrophy, Sudden episodic apnea, Failure to thrive in infancy, Elbow flexion contractur...	ORPHA:468699
Myasthenic Syndrome, Congenital, 19	Increased variability in muscle fiber diameter, Facial palsy, Respiratory insufficiency	OMIM:616720
Proximal 16P11.2 Microdeletion Syndrome	Dextrocardia, Congenital diaphragmatic hernia, Obesity, Abnormal heart morphology, Syringomyelia,...	ORPHA:261197
Peroxisome Biogenesis Disorder 10B	Nephrocalcinosis, Neurogenic bladder, Cataract	OMIM:617370
Camurati-Engelmann Disease	Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Bone pain, Optic atrophy, Optic nerve co...	ORPHA:1328
Marshall-Smith Syndrome	Failure to thrive, Brittle hair, Apnea, Optic nerve hypoplasia, Highly arched eyebrow, Synophrys,...	OMIM:602535
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Methylmalonic acidemia, Cerebellar hemorrhage, Hyperammonemia, Dehydration,...	OMIM:251000
Familial Glucocorticoid Deficiency	Hyponatremia, Cryptorchidism, Hyperkalemia, Testicular adrenal rest tumor, Weight loss, Azoosperm...	ORPHA:361
Myopathy, Mitochondrial, And Ataxia	Ataxia, Tremor, Inability to walk, Dysmetria, Limb ataxia, Distal amyotrophy, Dysdiadochokinesis,...	OMIM:617675
Aicardi-Goutieres Syndrome 7	Cerebellar atrophy, Pneumonia, Edema, Pericardial effusion, Hematemesis, Increased circulating fe...	OMIM:615846
Metachromatic Leukodystrophy, Juvenile Form	Decreased nerve conduction velocity, Progressive gait ataxia, Optic atrophy	ORPHA:309263
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Renal insufficiency, Splenomegaly, Stage 5 chronic kidney disease, Ureteral atresia...	OMIM:208540
Peroxisome Biogenesis Disorder 4B	Decreased nerve conduction velocity, Optic atrophy, Ataxia	OMIM:614863
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Focal segmental glomerulosclerosis, Enl...	OMIM:232220
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Cataract, Stage 5 chr...	OMIM:308940
Bickerstaff Brainstem Encephalitis	Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Dysesthesia, Impaired propriocep...	ORPHA:79138
Leopard Syndrome 1	Bundle branch block, Scapular winging, Complete atrioventricular canal defect, Cryptorchidism, Mi...	OMIM:151100
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Elevated circulating creatine kinase concentration, Crackles, Rhabdomyolys...	ORPHA:466650
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Ovarian Fibrothecoma	Pleural effusion, Ascites	ORPHA:314478
Cockayne Syndrome	Cerebellar atrophy, Skeletal muscle atrophy, Somatic sensory dysfunction, Optic disc pallor, Atax...	ORPHA:191
Scrub Typhus	Dyspnea, Myocarditis, Restrictive ventilatory defect, Hypotension, Cough	ORPHA:83317
Friedreich Ataxia 2	Abnormal EKG, Abnormality of the dorsal column of the spinal cord, Congestive heart failure, Conc...	OMIM:601992
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Hand muscle weakness, Tremor, Inability to walk, Vocal c...	ORPHA:99956
Pituitary Adenoma 1, Multiple Types	Left ventricular hypertrophy, Cardiomyopathy, Hypertension	OMIM:102200
Brachytelephalangic Chondrodysplasia Punctata	Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,...	ORPHA:79345
Familial Cutaneous Collagenoma	Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure	ORPHA:53296
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hemiparesis, Paraparesis, Failure to thrive in infancy, Paraplegia	ORPHA:79124
Cardiac-Urogenital Syndrome	Unilateral cryptorchidism, Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextro...	OMIM:618280
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Respiratory distress, Recurrent respiratory infections, Sudden cardi...	ORPHA:537
Metachromatic Leukodystrophy, Adult Form	Decreased nerve conduction velocity, Chorea, Optic atrophy, Progressive gait ataxia, Orthostatic ...	ORPHA:309271
Coffin-Siris Syndrome 3	Macroglossia, Central diaphragmatic hernia, Abnormal heart morphology	OMIM:614608
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Central apnea, Abnormal location of the eyebrow, Progressive flexion contractures, Ataxia, Widow'...	ORPHA:522077
Normokalemic Periodic Paralysis	Periodic paralysis	OMIM:170600
Congenital Fibrinogen Deficiency	Decreased testicular size, Tachycardia, Left ventricular hypertrophy, Internal hemorrhage, Right ...	ORPHA:335
Joubert Syndrome 21	Apnea, Ataxia, Dyspnea, Optic atrophy, Megalopapilla, Respiratory failure, Chronic sinusitis	OMIM:615636
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Crackles, Elevated circulating C-reactive protein c...	ORPHA:1302
Lymphoid Interstitial Pneumonia	Multiple pulmonary cysts, Crackles, Raynaud phenomenon, Dyspnea, Wheezing, Respiratory tract infe...	ORPHA:79128
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Optic nerve hypoplasia, Overweight, Facial edema, Macroglossia, Bradycardia, Abnormal circulating...	ORPHA:226307
Cerebellar-Facial-Dental Syndrome	Ventricular septal defect, Foot joint contracture, Cryptorchidism, Mitral valve prolapse, Abnorma...	ORPHA:444072
Haddad Syndrome	Aganglionic megacolon, Small for gestational age, Central hypoventilation, Breathing dysregulatio...	ORPHA:99803
Coasy Protein-Associated Neurodegeneration	Peripheral axonal neuropathy, Parkinsonism, Spastic paraparesis	ORPHA:397725
Glycogen Storage Disease Vii	Elevated circulating creatine kinase concentration, Increased muscle glycogen content, Hyperurice...	OMIM:232800
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Pulmonary arterial hype...	OMIM:616482
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Flexion contracture, Cardiomyopathy, Myopathy, Weakness of facial musculature, Failure to thrive	OMIM:201470
Donnai-Barrow Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia	ORPHA:2143
Neutral Lipid Storage Disease With Ichthyosis	Hypertriglyceridemia, Obesity, Central nervous system degeneration, Cardiomyopathy, Myopathy, Sho...	ORPHA:98907
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Respiratory f...	ORPHA:158687
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Stridor, Macroglossia, Bradycardia, Hyperbilirubinemia	OMIM:218700
Intellectual Disability-Strabismus Syndrome	Failure to thrive, Congenital diaphragmatic hernia, Polyhydramnios, Cryptorchidism, Achilles tend...	ORPHA:363528
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Pulmonary hypoplasia, Congenital diaphragmatic hernia	ORPHA:2141
Agel Amyloidosis	Facial palsy, Edema, Respiratory tract infection, Xerostomia, Cardiomyopathy, Blepharochalasis, A...	ORPHA:85448
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Intestinal Dysmotility Syndrome	Failure to thrive, Polyhydramnios, Weight loss	OMIM:620045
Cataract 41	Nuclear cataract	OMIM:116400
Cataract 18	Nuclear cataract	OMIM:610019
Castleman Disease	Elevated circulating C-reactive protein concentration, Dyspnea, Weight loss, Anasarca, Cough, Res...	ORPHA:160
X-Linked Intellectual Disability, Cabezas Type	Tremor, Camptodactyly of finger, Cachexia, Obesity	ORPHA:85293
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Neonatal respiratory distress, Elevated circulating creatine kinase concentration, Cardiomegaly, ...	ORPHA:228308
1P36 Deletion Syndrome	Failure to thrive, Abnormal heart valve morphology, Camptodactyly of finger, Cryptorchidism, Pate...	ORPHA:1606
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Pneumonia, Raynaud phenomenon, Punctate vasculitis skin lesions, Ele...	ORPHA:247691
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Decreased muscle mass, Congestive heart failure, Recurrent pneumonia, Elbow flexion contracture, ...	ORPHA:1900
Jansen-De Vries Syndrome	Ventricular septal defect, Central diaphragmatic hernia, Bicuspid aortic valve	OMIM:617450
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
H Syndrome	Abnormality of the kidney, Hepatosplenomegaly, Corneal arcus, Micropenis, Enlarged kidney	ORPHA:168569
Isolated Permanent Neonatal Diabetes Mellitus	Hypovolemia, Dehydration, Abnormal heart morphology, Weight loss, Lower-limb joint contracture, A...	ORPHA:99885
Waardenburg Syndrome, Type 4A	Aganglionic megacolon, Ataxia, Spastic paraparesis	OMIM:277580
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Fatigue, Weight loss	ORPHA:86893
Neuroblastoma, Susceptibility To, 1	Ataxia, Abdominal pain, Bone pain, Horner syndrome, Weight loss, Myoclonus, Failure to thrive, Ga...	OMIM:256700
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ed...	ORPHA:103910
Fatty Acid Hydroxylase-Associated Neurodegeneration	Cerebellar atrophy, Atrophy of the spinal cord, Progressive spastic paraparesis, Upper motor neur...	ORPHA:329308
Long Qt Syndrome 3	Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy...	OMIM:603830
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Trisomy 1Q	Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital diaphragmatic hern...	ORPHA:261344
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Hypoventilation, Nemaline bodies, Elbow contracture, Brain atrophy	OMIM:620275
Oculodentodigital Dysplasia	Ataxia, Paraparesis, Joint contracture of the 5th finger, Tetraparesis, Spasticity	OMIM:164200
D-Bifunctional Protein Deficiency	Cerebellar atrophy, Decreased muscle mass, Decreased nerve conduction velocity, Corpus callosum a...	OMIM:261515
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia	OMIM:619482
Athabaskan Brainstem Dysgenesis Syndrome	Central hypoventilation	OMIM:601536
Radio-Renal Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion	ORPHA:3015
Aredyld Syndrome	Cachexia	ORPHA:1133
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Decreased HDL cholesterol concentration, Decreased circulating apoli...	ORPHA:85450
Primary Hepatic Neuroendocrine Carcinoma	Elevated circulating alpha-fetoprotein concentration, Right ventricular failure, Dyspnea, Heart m...	ORPHA:100085
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Central apnea, Hypopigmentation of hair, Small for gestational age, Impaired temperature sensatio...	ORPHA:98754
Distal 7Q11.23 Microduplication Syndrome	Cryptorchidism, Patent ductus arteriosus, Congenital diaphragmatic hernia	ORPHA:261102
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Double outlet left ventricle, Failure to thrive, Ventricular septal defect,...	ORPHA:2255
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Weight loss	ORPHA:411593
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Optic disc pallor, Bicuspid aortic valve, Camptodactyly of finger, ...	OMIM:607872
Arterial Tortuosity Syndrome	Ventricular hypertrophy, Aortic regurgitation, Congenital diaphragmatic hernia, Pulmonary artery ...	OMIM:208050
Stüve-Wiedemann Syndrome	Respiratory distress, Apnea, Camptodactyly of finger, Impaired pain sensation, Asthma, Flexion co...	ORPHA:3206
Beta-Ketothiolase Deficiency	Edema, Tachypnea, Hyperammonemia, Weight loss, Dehydration, Hypertension, Hyperuricemia, Hypotens...	ORPHA:134
Gitelman Syndrome	Prolonged QT interval, Rhabdomyolysis, Ventricular tachycardia, Hypokalemia, Increased circulatin...	OMIM:263800
Hernia, Anterior Diaphragmatic	Congenital diaphragmatic hernia	OMIM:306950
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Tachypnea	OMIM:245050
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Dyspnea, Hypersensitivity pneumonitis, Abnormality on pulmona...	ORPHA:133
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Decreased muscle mass, Hand tremor, Dysmetria, Truncal obesity, Flexion contracture of digit, Spa...	ORPHA:3041
Native American Myopathy	Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Respiratory insufficiency, Co...	ORPHA:168572
Multiple Myeloma	Hypercalcemia, Spinal cord compression, Elevated circulating creatinine concentration, Weight los...	ORPHA:29073
Postinfectious Vasculitis	Cerebral vasculitis, Abnormal circulating protein concentration, Pneumonia, Elevated circulating ...	ORPHA:48435
Myoglobinuria, Recurrent	Ragged-red muscle fibers	OMIM:550500
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ...	OMIM:309801
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Central apnea, Hypopigmentation of hair, Small for gestational age, Impaired temperature sensatio...	ORPHA:98793
Obesity Due To Sim1 Deficiency	Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology,...	ORPHA:369873
Nipah Virus Disease	Respiratory distress, Recurrent pharyngitis, Hypotension, Cough	ORPHA:99825
Sheehan Syndrome	Hyponatremia, Orthostatic hypotension, Obesity, Palpitations, Bradycardia	ORPHA:91355
Wolman Disease	Cachexia	ORPHA:75233
Cholera	Hyponatremia, Tachycardia, Tachypnea, Abnormal blood ion concentration, Dehydration, Hypovolemic ...	ORPHA:173
Xfe Progeroid Syndrome	Poor coordination, Failure to thrive, Optic atrophy, Cachexia	OMIM:610965
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Pleural effusion, Recurrent pneumonia, Pulmonary fibrosis	OMIM:618935
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Central apnea, Hypopigmentation of hair, Small for gestational age, Impaired temperature sensatio...	ORPHA:177904
Multisystemic Smooth Muscle Dysfunction Syndrome	Cryptorchidism, Patent ductus arteriosus, Tachypnea, Hypertension, Atrial septal defect, Pulmonar...	OMIM:613834
Shprintzen-Goldberg Syndrome	Failure to thrive, Aplasia/Hypoplasia of the abdominal wall musculature, Apnea, Camptodactyly of ...	ORPHA:2462
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Central apnea, Hypopigmentation of hair, Small for gestational age, Impaired temperature sensatio...	ORPHA:177901
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Cataract, Astigmatism, Nephroblastoma, Bifid ure...	ORPHA:500095
Congenital Heart Defects And Skeletal Malformations Syndrome	Ventricular septal defect, Repeated pneumothoraces, Congenital diaphragmatic hernia, Cryptorchidi...	OMIM:617602
Tyrosinemia, Type I	Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Glomer...	OMIM:276700
Eosinophilic Gastroenteritis	Allergic rhinitis, Elevated circulating C-reactive protein concentration, Edema, Asthma, Weight l...	ORPHA:2070
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Abnormal circulating creatine concentration, Flexion contracture, We...	ORPHA:440437
19Q13.11 Microdeletion Syndrome	Failure to thrive, Cachexia	ORPHA:217346
Osteopathia Striata With Cranial Sclerosis	Failure to thrive, Apnea, Facial palsy, Spina bifida occulta, Camptodactyly, Tracheomalacia, Join...	OMIM:300373
Chronic Graft Versus Host Disease	Dyspnea, Wheezing, Pneumothorax, Flexion contracture, Bronchiectasis, Xerostomia, Weight loss, Br...	ORPHA:99921
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent...	OMIM:615441
Cutaneous Mastocytoma	Telangiectasia of the skin, Dyspnea, Angioedema, Hypotension, Peau d'orange, Telangiectasia macul...	ORPHA:79455
Congenital Diaphragmatic Hernia	Respiratory distress, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Hypox...	ORPHA:2140
Meier-Gorlin Syndrome 7	Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Cryptorchidism, S...	OMIM:617063
Rift Valley Fever	Back pain, Paralysis, Paraparesis, Ocular pain, Hemiparesis, Decerebrate rigidity	ORPHA:319251
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Cerebellar atrophy, Edema, Anasarca, Hypoalbuminemia, Pleural effusion	OMIM:254900
Acquired Generalized Lipodystrophy	Calf muscle pseudohypertrophy, Hypertriglyceridemia, Abnormal cardiovascular system physiology, C...	ORPHA:79086
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia	OMIM:613091
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Skeletal muscle atrophy, Cachexia	ORPHA:1969
Cockayne Syndrome B	Ataxia, Small for gestational age, Abnormal auditory evoked potentials, Abnormal peripheral myeli...	OMIM:133540
Pfapa Syndrome	Fatigue, Arthralgia, Weight loss, Abdominal pain	ORPHA:42642
Ehlers-Danlos Syndrome, Classic-Like	Proximal amyotrophy, Mitral valve prolapse, Quadricuspid aortic valve, Muscle fiber splitting	OMIM:606408
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Cranial nerve compression, Weight l...	ORPHA:276621
Vitreoretinal Degeneration, Snowflake Type	Cataract, Corneal guttata	OMIM:193230
Anemia, Congenital Dyserythropoietic, Type Iv	Hydrops fetalis, Weight loss, Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Hypertrophic c...	OMIM:613673
Diaphragmatic Hernia, Congenital	Congenital diaphragmatic hernia	OMIM:142340
Diaphragmatic Hernia 3	Congenital diaphragmatic hernia	OMIM:610187
Tarp Syndrome	Apnea, Abnormal hair pattern, Optic atrophy, Failure to thrive, Thick eyebrow	ORPHA:2886
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Cystic renal dysplasia, Enlarged kidney	OMIM:200995
Noonan Syndrome 2	Mitral stenosis, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Increased nuchal tran...	OMIM:605275
Kyrle Disease	Posterior subcapsular cataract	OMIM:149500
Cataract 43	Posterior subcapsular cataract	OMIM:616279
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro...	OMIM:130650
Long Qt Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,...	OMIM:192500
Lynch Syndrome	Gastrointestinal hemorrhage, Flexion contracture, Weight loss, Cardiac diverticulum	ORPHA:144
Cockayne Syndrome A	Cerebellar atrophy, Hip contracture, Ataxia, Abnormal peripheral myelination, Abnormal auditory e...	OMIM:216400
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Myopathy, Cachexia	ORPHA:109
Mucopolysaccharidosis, Type Vi	Tricuspid regurgitation, Pneumonia, Flexion contracture, Recurrent upper respiratory tract infect...	OMIM:253200
Igg4-Related Kidney Disease	Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urinary bladder inf...	ORPHA:449395
Combined Oxidative Phosphorylation Deficiency 42	Cardiomyopathy, Nonimmune hydrops fetalis, Elevated circulating creatine kinase concentration	OMIM:618839
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Increased variability in muscle fiber diameter, Respiratory failure, Muscular dystrophy, Elevated...	OMIM:616538
Mercury Poisoning	Respiratory distress, Tachycardia, Dyspnea, Hypertension, Respiratory failure, Interstitial pneum...	ORPHA:330021
Holoprosencephaly	Hyponatremia, Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphrag...	ORPHA:2162
Chronic Bilirubin Encephalopathy	Central apnea, Abnormal auditory evoked potentials	ORPHA:529808
Acute Bilirubin Encephalopathy	Central apnea, Abnormal auditory evoked potentials	ORPHA:529799
Sjogren-Larsson Syndrome	Spasticity, Flexion contracture, Spastic paraparesis	OMIM:270200
Collagenoma, Familial Cutaneous	Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Primary testicula...	OMIM:115250
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Abnormality of the diaphragm, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Testicular a...	OMIM:601163
Endocrine-Cerebroosteodysplasia	Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney	OMIM:612651
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Opacification of the corneal str...	OMIM:252500
Heart Defects, Congenital, And Other Congenital Anomalies	Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Congenital diaphragma...	OMIM:600001
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Bacterial en...	ORPHA:95459
Brugada Syndrome 7	Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati...	OMIM:613120
Hyperparathyroidism, Neonatal Severe	Calcinosis, Dyspnea, Failure to thrive, Tachypnea	OMIM:239200
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ...	OMIM:612347
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level, Hypotension, Failure ...	OMIM:203400
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Palpitations, Abnormal T-wave, Dec...	ORPHA:231625
Toxin-Mediated Infectious Botulism	Cerebral palsy, Diaphragmatic paralysis, Paralysis	ORPHA:230800
Von Hippel-Lindau Disease	Papilledema, Myocardial infarction, Myocarditis, Macular edema, Upper limb muscle weakness, Cardi...	ORPHA:892
Hypoparathyroidism, Familial Isolated, 1	Nephrocalcinosis, Cataract	OMIM:146200
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Hemiplegia, Cachexia	ORPHA:3217
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho...	OMIM:108950
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Dehydration, Increased circulating renin lev...	ORPHA:556030
Distal Deletion 15Q	Bicuspid aortic valve, Mitral atresia, Congenital diaphragmatic hernia, Small for gestational age...	ORPHA:1596
Thymic Carcinoma	Fatigue, Chest pain, Diaphragmatic paralysis, Weight loss	ORPHA:99868
Autosomal Recessive Spondylocostal Dysostosis	Camptodactyly of finger, Congenital diaphragmatic hernia, Cryptorchidism, Respiratory insufficien...	ORPHA:2311
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Unilateral renal agenesis	OMIM:618188
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Cataract, Proteinuria, Absence of renal corticom...	OMIM:120330
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Atrial septal defect, Optic atrophy, Right atrial enlargement	OMIM:615219
Halperin-Birk Syndrome	Congenital diaphragmatic hernia, Flexion contracture, Optic atrophy, Perimembranous ventricular s...	OMIM:618651
13Q12.3 Microdeletion Syndrome	Recurrent respiratory infections, Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Upper...	ORPHA:412035
Hennekam-Beemer Syndrome	Telangiectasia of the skin, Camptodactyly of finger, Pneumonia, Optic atrophy, Respiratory insuff...	ORPHA:2135
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Recurrent respiratory infections, Cardiomegaly, Atelectasis, Tachypnea, ...	OMIM:618278
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Lymphedema, Weight loss, Intracranial hemorrhage, Respiratory f...	ORPHA:3226
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Recurrent respiratory infections, Hyperkalemia, Dehydration, Hypotension, Failure t...	OMIM:264350
Ferguson-Bonni Neurodevelopmental Syndrome	Patent foramen ovale, Coronary-pulmonary artery fistula, Congenital diaphragmatic hernia	OMIM:619699
Paramyotonia Congenita Of Von Eulenburg	Facial muscle hypertrophy, EMG: myopathic abnormalities, Periodic hypokalemic paresis	ORPHA:684
Campomelic Dysplasia	Respiratory distress, Neonatal respiratory distress, Apnea, Short nail, Spina bifida, Contracture...	OMIM:114290
Czeizel-Losonci Syndrome	Posterolateral diaphragmatic hernia, Dextrocardia, Spina bifida, Aplasia of the left hemidiaphrag...	ORPHA:2437
Blindness-Scoliosis-Arachnodactyly Syndrome	Cataract, Lens subluxation, Microphakia	ORPHA:171844
Mucopolysaccharidosis Type 2	Papilledema, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Spinal cord co...	ORPHA:580
Greig Cephalopolysyndactyly Syndrome	Congenital diaphragmatic hernia	ORPHA:380
Hereditary Late-Onset Parkinson Disease	Weight loss, Gliosis, Cerebral cortical atrophy, Orthostatic hypotension due to autonomic dysfunc...	ORPHA:411602
Diethylstilbestrol Syndrome	Central apnea, Small for gestational age	ORPHA:1916
Developmental Delay With Or Without Dysmorphic Facies And Autism	Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arterio...	OMIM:618454
Trisomy 18	Cachexia, Hypertonia, Camptodactyly of finger, Congenital diaphragmatic hernia	ORPHA:3380
Graves Disease, Susceptibility To, 1	Congestive heart failure, Weight loss	OMIM:275000
Wilson Disease	Back pain, Bone pain, Increased body weight, Weight loss, Clumsiness, Proximal muscle weakness in...	ORPHA:905
Stiff-Person Syndrome	Tachycardia, Proximal limb muscle stiffness, Hypertension, Asymmetric limb muscle stiffness, Axia...	OMIM:184850
Autosomal Recessive Malignant Osteopetrosis	Apnea, Abnormality of hair texture, Tremor, Chronic rhinitis, Pulmonary arterial hypertension, Op...	ORPHA:667
Holocarboxylase Synthetase Deficiency	Alopecia, Tachypnea, Hyperventilation	OMIM:253270
Relapsing Fever	Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration, Elevated circulati...	ORPHA:91547
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Incoordination, Ataxia, Arthrogryposis-like hand anomaly, Macroglossia, Spastic paraparesis, Camp...	ORPHA:369891
Chromosome 1Q41-Q42 Deletion Syndrome	Cryptorchidism, Ventricular septal defect, Pulmonary hypoplasia, Congenital diaphragmatic hernia	OMIM:612530
Focal Dermal Hypoplasia	Ventricular septal defect, Camptodactyly of finger, Diastasis recti, Congenital diaphragmatic her...	ORPHA:2092
Polyglucosan Body Neuropathy, Adult Form	Abnormal upper motor neuron morphology, Orthostatic hypotension, Neurogenic bladder	OMIM:263570
Xp22.13P22.2 Duplication Syndrome	Macroorchidism, Truncal obesity, Recurrent upper respiratory tract infections, Congenital diaphra...	ORPHA:284180
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Epistaxis, Dyspnea, Weight loss, Cardiomyopathy, Pulmonary fibrosis	ORPHA:79430
Zaki Syndrome	Patent ductus arteriosus, Patent foramen ovale, Congenital diaphragmatic hernia	OMIM:619648
Alg9-Cdg	Hypoplasia of the bladder, Hepatomegaly, Ureteral hypoplasia, Abnormal renal artery morphology, H...	ORPHA:79328
Hirschsprung Disease	Weight loss, Aganglionic megacolon, Failure to thrive in infancy, Abdominal pain	ORPHA:388
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tachycardia, Hypokalemia, Weight loss	OMIM:613239
Pseudohypoparathyroidism Type 2	Calcinosis, Prolonged QT interval, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalc...	ORPHA:94090
Genitopalatocardiac Syndrome	Cryptorchidism, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia	ORPHA:2075
Pentalogy Of Cantrell	Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmatic hernia, Pulm...	ORPHA:1335
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Bilateral ...	OMIM:611812
White-Sutton Syndrome	Facial hypotonia, Optic nerve hypoplasia, Congenital diaphragmatic hernia, Patent ductus arterios...	OMIM:616364
Peripheral Primitive Neuroectodermal Tumor	Torticollis, Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetoprotein concent...	ORPHA:370348
Cutis Laxa, Autosomal Recessive, Type Ia	Recurrent respiratory infections, Congenital diaphragmatic hernia, Supravalvular aortic stenosis,...	OMIM:219100
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Cerebellar atrophy, Congenital diaphragmatic hernia, Large for gestational age, Polyhydramnios, P...	OMIM:614080
Andersen Cardiodysrhythmic Periodic Paralysis	Prolonged QT interval, Scapular winging, Bidirectional ventricular ectopy, Hypokalemia, Syncope, ...	OMIM:170390
Diamond-Blackfan Anemia 10	Respiratory distress, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphr...	OMIM:613309
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly ...	ORPHA:217085
Reactive Arthritis	Aortic regurgitation, Pericarditis, Abnormal pleura morphology, Respiratory insufficiency, Weight...	ORPHA:29207
Fryns Syndrome	Aganglionic megacolon, Congenital diaphragmatic hernia, Polyhydramnios, Cryptorchidism, Abnormal ...	ORPHA:2059
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Joubert Syndrome 5	Central apnea, Ataxia, Episodic tachypnea, Neonatal breathing dysregulation	OMIM:610188
Fetal Alcohol Syndrome	Atrial septal defect, Congenital diaphragmatic hernia	ORPHA:1915
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level, Hypotension, Failure ...	OMIM:177735
Oromandibular Dystonia	Torticollis, Weight loss, Blepharospasm, Hyperkinetic movements, Pain	ORPHA:93958
Acrocallosal Syndrome	Cryptorchidism, Congenital diaphragmatic hernia	ORPHA:36
Acquired Von Willebrand Syndrome	Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Melena, Mi...	ORPHA:99147
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Foot joint contracture, Dilated cardiomyopathy, Flexion contracture, Decreased serum zinc, Decrea...	ORPHA:79408
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Portal hypertension, Weight loss, Hypotension, Ascites	ORPHA:98850
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly ...	ORPHA:217093
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Opisthotonus, Weight loss, Spasticity, Frequent falls	ORPHA:216866
Dengue Fever	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Cardiorespiratory arrest, Hypotensio...	ORPHA:99828
Infant Botulism	Hyponatremia, Cardiac arrest, Respiratory insufficiency due to muscle weakness, Dyspnea, Xerostom...	ORPHA:178478
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Cranial nerve compression, Weight l...	ORPHA:29072
Marfan Syndrome	Pulmonary artery dilatation, Skeletal muscle atrophy, Mitral valve calcification, Spontaneous pne...	ORPHA:558
Autoimmune Hypoparathyroidism	Prolonged QT interval, Dyspnea, Abnormal left ventricular function, Hypocalcemic seizures, Hyperp...	ORPHA:36913
White-Sutton Syndrome	Cerebellar atrophy, Facial hypotonia, Congenital diaphragmatic hernia, Optic atrophy, Obesity, Ab...	ORPHA:468678
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Nephrocalcinosis, Enl...	ORPHA:79259
Scheie Syndrome	Abnormal nerve conduction velocity	ORPHA:93474
Coloboma, Ocular, Autosomal Recessive	Iris coloboma, Cataract, Lens subluxation	OMIM:216820
Rat-Bite Fever	Pericarditis, Myocarditis, Endocarditis, Tendonitis, Weight loss	ORPHA:31205
Isolated Ectopia Lentis	Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Reticular Dysgenesis	Recurrent respiratory infections, Failure to thrive, Dehydration, Weight loss	ORPHA:33355
Microsporidiosis	Myositis, Sinusitis, Pneumonia, Cachexia, Bronchitis, Myocarditis, Endocarditis, Weight loss, Deh...	ORPHA:2552
Ménétrier Disease	Gastrointestinal hemorrhage, Weight loss, Peripheral edema, Hypoalbuminemia, Hypoproteinemia	ORPHA:2494
Epidermal Nevus Syndrome	Rhabdomyosarcoma, Atrophy of the spinal cord, Progressive spastic paraparesis, Babinski sign, Wea...	ORPHA:35125
Kanzaki Disease	Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy, Distal sensory impairment	OMIM:609242
Ataxia-Telangiectasia-Like Disorder 2	Cerebellar atrophy, Conjunctival telangiectasia, Congenital diaphragmatic hernia, Cutaneous telan...	OMIM:615919
Proximal 16P11.2 Microduplication Syndrome	Failure to thrive, Decreased body mass index, Congenital diaphragmatic hernia	ORPHA:370079
Mast Cell Sarcoma	Fatigue, Weight loss	ORPHA:66661
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Cataract, Non-acidotic proximal tubulopathy,...	ORPHA:1652
Autosomal Recessive Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Splenomegaly, Oliguria, Stage 5 chronic ...	ORPHA:731
Lowry-Maclean Syndrome	Bilateral cryptorchidism, Atrioventricular canal defect, Congenital diaphragmatic hernia	ORPHA:2409
Homozygous Familial Hypercholesterolemia	Angina pectoris, Myocardial infarction, Sudden cardiac death, Optic neuropathy, Dyspnea, Tendon x...	ORPHA:391665
Vacterl/Vater Association	Polyhydramnios, Congenital diaphragmatic hernia, Cryptorchidism, Aplasia/Hypoplasia of the lungs,...	ORPHA:887
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:228302
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Vocal cord paralysis	ORPHA:2375
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Cachexia, Paralysis, Spastic paraplegia, Limb ataxia, Hypertonia, Oculomotor apraxia	ORPHA:2072
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Edema, Vasculitis, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:324964
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Optic neuropathy, Raynaud phenomenon, Arterial occlusion, Optic atrophy, Atriovent...	OMIM:259900
Brugada Syndrome 6	ST segment elevation, Ventricular fibrillation, Cardiac arrest	OMIM:613119
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Nephroblastoma	Neoplasm of the lung, Hypertension, Weight loss	ORPHA:654
Hydroxykynureninuria	Abnormal circulating tryptophan concentration, Tachycardia, Hypotension, Breathing dysregulation	ORPHA:79155
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Enlarged kidney	ORPHA:276280
Polycythemia Vera	Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,...	ORPHA:729
Mosaic Variegated Aneuploidy Syndrome	Apnea, Muscular dystrophy, Rhabdomyosarcoma	ORPHA:1052
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology	ORPHA:3068
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Failure to thrive in infancy, Cachexia	ORPHA:37042
Pyomyositis	Myositis, Testicular teratoma, Sudden cardiac death, Weight loss	ORPHA:764
Meningococcal Meningitis	Shock, Papilledema, Neonatal respiratory distress, Elevated circulating C-reactive protein concen...	ORPHA:33475
Craniofrontonasal Dysplasia	Camptodactyly of finger, Congenital diaphragmatic hernia	ORPHA:1520
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Macroglossia, Co...	OMIM:613150
African Trypanosomiasis	Abnormal EKG, Pericarditis, Papilledema, Myelopathy, Myocarditis, Congestive heart failure, Weigh...	ORPHA:3385
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Bundle branch block, Ventricular septal defect, Camptodactyly of finger, C...	ORPHA:373
Schisis Association	Small for gestational age, Spina bifida, Congenital diaphragmatic hernia	ORPHA:63862
Acute Myelomonocytic Leukemia	Dyspnea, Weight loss	ORPHA:517
Pulmonary Hypertension, Primary, 4	Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs...	OMIM:615344
Acquired Hypertrichosis Lanuginosa	Macroglossia, Weight loss	ORPHA:2221
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotensi...	ORPHA:556037
Mosaic Trisomy 1	Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital diaphragmatic hern...	ORPHA:1692
Spastic Paraplegia 9A, Autosomal Dominant	Impaired vibratory sensation, Resting tremor, Corpus callosum atrophy, Gait ataxia, Generalized a...	OMIM:601162
Immunodeficiency 27A	Abnormal bronchus physiology, Hypoalbuminemia, Pneumonia, Weight loss	OMIM:209950
Thymoma	Myositis, Dyspnea, Weight loss, Neoplasm of the lung, Neoplasia of the pleura, Cough	ORPHA:99867
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Hypoventilation, Recurrent pneumonia, Elbow flexion contracture, Obesity, Optic ...	OMIM:618493
Central Diabetes Insipidus	Hyponatremia, Failure to thrive, Dehydration, Weight loss	ORPHA:178029
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Parkinsonism, Abnormal autonomic nervous system physiology, Weight loss	OMIM:605543
Glycogen Storage Disease Xii	Elevated circulating creatine kinase concentration, Myopathy, Hyperbilirubinemia, Increased varia...	OMIM:611881
Rabin-Pappas Syndrome	Hypoventilation, Failure to thrive in infancy, Optic nerve hypoplasia, Highly arched eyebrow, Obe...	OMIM:620155
Primary Hyperoxaluria	Optic disc pallor, Hyperoxaluria, Heart block, Raynaud phenomenon, Arterial occlusion, Optic atro...	ORPHA:416
Beckwith-Wiedemann Syndrome	Ureteral duplication, Hepatomegaly, Cardiomegaly, Splenomegaly, Nephrolithiasis, Hypercalciuria, ...	ORPHA:116
Erythrokeratodermia Variabilis	Abnormal testis morphology, Weight loss	ORPHA:317
Congenital Disorder Of Glycosylation, Type Iib	Hypoventilation, Optic atrophy, Long eyelashes, Cerebral atrophy	OMIM:606056
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Weight loss, Hyperte...	ORPHA:91347
Cebalid Syndrome	Congenital diaphragmatic hernia	OMIM:618774
Nijmegen Breakage Syndrome	Skeletal muscle atrophy, Cachexia, Rhabdomyosarcoma	ORPHA:647
Stickler Syndrome	Skeletal muscle atrophy, Cachexia, Hemiplegia/hemiparesis, Bone pain, Macroglossia, Arthralgia, S...	ORPHA:828
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou...	ORPHA:99125
Acute Adrenal Insufficiency	Hyponatremia, Orthostatic hypotension, Hypercalcemia, Myocardial infarction, Hypovolemia, Hyperka...	ORPHA:95409
Johanson-Blizzard Syndrome	Ventricular septal defect, Small for gestational age, Portal hypertension, Increased VLDL cholest...	OMIM:243800
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Astigmatism, Enlarged kidney, Enuresis nocturna	OMIM:615873
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Ataxia, Foot joint contracture, Optic atrophy, Failure to th...	ORPHA:90321
Adrenocortical Carcinoma	Increased body weight, Weight loss, Hypertension, Hypokalemia, Palpitations, Lung adenocarcinoma	ORPHA:1501
Semilobar Holoprosencephaly	Central apnea, Flexion contracture, Aspiration pneumonia, Limb dystonia, Abnormality of the auton...	ORPHA:220386
Alobar Holoprosencephaly	Central apnea, Flexion contracture, Aspiration pneumonia, Limb dystonia, Abnormality of the auton...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Flexion contracture, Aspiration pneumonia, Limb dystonia, Abnormality of the auton...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Flexion contracture, Aspiration pneumonia, Limb dystonia, Abnormality of the auton...	ORPHA:93924
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Apnea, Synophrys, Flexion contracture, Knee flexion contracture, Diaphragmatic eventration, Aspir...	OMIM:619503
Abnormal Hair, Joint Laxity, And Developmental Delay	Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia	OMIM:261990
Donnai-Barrow Syndrome	Diaphragmatic eventration, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:222448
Yellow Fever	Shock, Elevated circulating creatine kinase concentration, Supraventricular arrhythmia, Hematemes...	ORPHA:99829
Congenital Disorder Of Deglycosylation 1	Pain insensitivity, Facial hypotonia, Chorea, Dysmetria, Intrinsic hand muscle atrophy, Athetosis...	OMIM:615273
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Cachexia, Patent ductus arteriosus, Abnormal heart morphology, Melen...	ORPHA:79076
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cerebellar atrophy, Hypertyrosinemia, Rhabdomyolysis, Ragged-red muscle fibers, Cerebral atrophy,...	OMIM:124000
Unilateral Polymicrogyria	Giant somatosensory evoked potentials, Apnea, Epistaxis	ORPHA:268943
7Q11.23 Microduplication Syndrome	Ventricular septal defect, Tracheomalacia, Congenital diaphragmatic hernia, Cryptorchidism, Paten...	ORPHA:96121
Rh Deficiency Syndrome	Tachycardia, Tachypnea, Hypoxemia, Hyperbilirubinemia, Reduced haptoglobin level, Oligohydramnios	ORPHA:71275
Pseudomyxoma Peritonei	Ascites, Respiratory insufficiency, Weight loss	ORPHA:26790
Granulomatous Disease, Chronic, X-Linked	Atelectasis, Recurrent pneumonia, Cough, Pleural effusion, Ascites	OMIM:306400
Wilson Disease	Decreased nerve conduction velocity, Hypoesthesia, Limb muscle weakness	OMIM:277900
Brugada Syndrome 5	ST segment elevation, Bundle branch block, Ventricular fibrillation	OMIM:612838
Riddle Syndrome	Conjunctival telangiectasia, Pneumonia, Elevated circulating alpha-fetoprotein concentration, Bro...	ORPHA:420741
Granulomatosis With Polyangiitis	Sinusitis, Diffuse alveolar hemorrhage, Retinal hemorrhage, Localized pulmonary hemorrhage, Respi...	OMIM:608710
Purine Nucleoside Phosphorylase Deficiency	Cerebral palsy, Ataxia, Abnormal central motor function, Hypertonia, Spastic paraparesis, Spasticity	ORPHA:760
Chromosome 15Q25 Deletion Syndrome	Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Cryptorchidism, Coronar...	OMIM:614294
Hamamy Syndrome	Prolonged QRS complex, Complete atrioventricular canal defect, Cryptorchidism, Mitral regurgitati...	OMIM:611174
Metachromatic Leukodystrophy	Decreased nerve conduction velocity, Ataxia	ORPHA:512
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Aymé-Gripp Syndrome	Pericarditis, Congenital diaphragmatic hernia, Pericardial effusion, Cryptorchidism, Patent ductu...	ORPHA:1272
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level, Hypotension	OMIM:620125
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Aplasia/Hypoplasia of the lungs, Cryptorchidism, Abnormal lung lobation, Congenital diaphragmatic...	ORPHA:2063
Recessive Mitochondrial Ataxia Syndrome	Increased serum pyruvate, ST segment elevation	ORPHA:94125
Hereditary Angioedema Type 1	Respiratory distress, Tongue edema, Pharyngeal edema, Intestinal edema, Edema of the dorsum of ha...	ORPHA:100050
Foodborne Botulism	Cerebral palsy, Diaphragmatic paralysis, Paralysis	ORPHA:228371
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Impaired vibratory sensation, Tachypnea, Progressive cerebellar ataxia, Failure to thrive, Cerebr...	ORPHA:415
Alexander Disease	Facial palsy, Sudden cardiac death, Respiratory insufficiency, Hypertension, Abnormal autonomic n...	ORPHA:58
Meacham Syndrome	Enlarged kidney, Horseshoe kidney	OMIM:608978
Cutis Laxa, Autosomal Recessive, Type Ic	Posterolateral diaphragmatic hernia, Morgagni diaphragmatic hernia, Periorbital edema, Atelectasi...	OMIM:613177
Igg4-Related Retroperitoneal Fibrosis	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:49041
Hypermanganesemia With Dystonia 1	Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality of extrap...	OMIM:613280
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ...	OMIM:245600
Pseudohypoparathyroidism Type 1B	Calcinosis, Prolonged QT interval, Dyspnea, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany,...	ORPHA:94089
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypoventilation, Optic disc pallor, Exaggerated startle response, Apnea, Breathing dysregulation,...	ORPHA:438213
Inflammatory Bowel Disease 11	Weight loss, Abdominal pain	OMIM:191390
Hutchinson-Gilford Progeria Syndrome	Myocardial infarction, Intracranial hemorrhage, Abnormal mitral valve morphology, Raynaud phenome...	ORPHA:740
Rajab Interstitial Lung Disease With Brain Calcifications 1	Small for gestational age, Portal hypertension, Tachypnea, Abnormal pulmonary interstitial morpho...	OMIM:613658
Thoracoabdominal Syndrome	Congenital diaphragmatic hernia, Patent ductus arteriosus, Pulmonary hypoplasia, Transposition of...	OMIM:313850
Opitz Gbbb Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Tracheomalacia, Cryptorchidism, Paten...	ORPHA:2745
Combined Oxidative Phosphorylation Deficiency 12	Spastic tetraparesis, Babinski sign, Ragged-red muscle fibers, Bradykinesia, Dystonia	OMIM:614924
Pseudohypoaldosteronism Type 2	Periodic paralysis	ORPHA:757
Glioblastoma	Paralysis	ORPHA:360
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync...	OMIM:609620
Mycophenolate Mofetil Embryopathy	Tracheomalacia, Ventricular septal defect, Hydrops fetalis, Congenital diaphragmatic hernia	ORPHA:268249
Benign Recurrent Intrahepatic Cholestasis	Fatigue, Weight loss, Abdominal pain	ORPHA:65682
Acute Promyelocytic Leukemia	Epistaxis, Productive cough, Diffuse alveolar hemorrhage, Weight loss, Exertional dyspnea	ORPHA:520
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Peau d'orange, Wheezing, Hypotension	ORPHA:79456
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Renal agenesis, Cardiomegaly, Horseshoe kidney, Enlarged kidney	OMIM:306955
1Q41Q42 Microdeletion Syndrome	Cryptorchidism, Pulmonary hypoplasia, Congenital diaphragmatic hernia	ORPHA:250999
Hypercalcemia, Infantile, 1	Failure to thrive, Hypercalcemia, Dehydration, Weight loss	OMIM:143880
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Neurogenic bladder, Vocal cord paralysis, Myoclonus, Dystonia, Spasticity	ORPHA:500144
Lysosomal Acid Lipase Deficiency	Weight loss, Failure to thrive, Cachexia, Abdominal pain	ORPHA:275761
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss, Abdominal pain	OMIM:266600
Fanconi Anemia	Aganglionic megacolon, Spina bifida, Cryptorchidism, Patent ductus arteriosus, Weight loss, Azoos...	ORPHA:84
Hypotonia-Cystinuria Syndrome	Ragged-red muscle fibers, Facial palsy	OMIM:606407
Leishmaniasis	Fatigue, Night sweats, Arthralgia, Weight loss	ORPHA:507
X-Linked Agammaglobulinemia	Sinusitis, Abnormal lung morphology, Recurrent pneumonia, Weight loss, Hypocalcemia, Failure to t...	ORPHA:47
Leprechaunism	Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged kidney	ORPHA:508
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia, Hypotension	ORPHA:91354
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster...	OMIM:221900
Thakker-Donnai Syndrome	Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Congenital d...	ORPHA:1780
Axial Mesodermal Dysplasia Spectrum	Aplasia/Hypoplasia of the lungs, Cerebral cortical atrophy, Congenital diaphragmatic hernia, Olig...	ORPHA:1834
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis	OMIM:170500
Cataracts, Spastic Paraparesis, And Speech Delay	Spastic paraparesis	OMIM:619338
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Neonatal asphyxia, Cryptorchidism, Hyperkalemia, Dehydration, Azoospermia, Increase...	ORPHA:90791
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Crazy paving pattern, Crackles, Dyspnea, Intraalveola...	ORPHA:747
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Prolonged QT interval, Optic nerve hypoplasia, Flexion contracture, Stridor, Camptodactyly, Pulmo...	OMIM:620029
Late-Onset Isolated Acth Deficiency	Hyponatremia, Orthostatic hypotension, Hypercalcemia, Hyperkalemia, Weight loss, Hyperuricemia, H...	ORPHA:199299
Diets-Jongmans Syndrome	Ventricular septal defect, Polyhydramnios, Congenital diaphragmatic hernia, Cryptorchidism, Gliosis	OMIM:618846
Wolf-Hirschhorn Syndrome	Recurrent respiratory infections, Tethered cord, Abnormal heart valve morphology, Congenital diap...	ORPHA:280
Mu-Heavy Chain Disease	Weight loss	ORPHA:100024
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress, Congenital diaphragmatic hernia	OMIM:606164
Split Cord Malformation	Back pain, Low back pain, Urinary incontinence, Bowel incontinence, Paraparesis, Distal lower lim...	ORPHA:573278
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Neonatal hyperb...	ORPHA:3008
Orofaciodigital Syndrome Type 2	Tachypnea, Apnea, Thick hair	ORPHA:2751
Neuroendocrine Neoplasm Of Appendix	Tricuspid stenosis, Asthma, Heart murmur, Palpitations, Hypotension	ORPHA:100079
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Spastic paraparesis, Small for gestational age, Decreased body weight	ORPHA:391408
Renal Nutcracker Syndrome	Orthostatic hypotension, Tachycardia, Weight loss, Syncope, Abnormal autonomic nervous system phy...	ORPHA:71273
Cardiospondylocarpofacial Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D...	OMIM:157800
Malignant Peritoneal Mesothelioma	Dyspnea, Ascites, Pedal edema, Weight loss	ORPHA:168811
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Leiomyosarcoma, Hypertension, Arrhythmia, Ascites	ORPHA:139411
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Polyhydramnios, Congenital diaphragmatic hernia, Hydrops fetalis, Pulmonary hypoplasia, Atrial se...	OMIM:616546
Renal Tubular Dysgenesis	Respiratory insufficiency, Pulmonary hypoplasia, Hypotension, Oligohydramnios	OMIM:267430
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Congenital diaphragmatic hernia, Cryptorchidism, Respiratory insufficiency, Abnormal heart morpho...	OMIM:617641
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis	OMIM:145260
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Scapular winging, Ragged-red muscle fibers, Generalized limb muscle atrophy	OMIM:600462
Kaposi Sarcoma	Lymphedema, Abnormal lung morphology, Weight loss	ORPHA:33276
Autosomal Dominant Hypocalcemia	Congestive heart failure, Optic atrophy, Hyperphosphatemia, Hypocalcemia, Hypotension, Hypomagnes...	ORPHA:428
Tick-Borne Encephalitis	Speech apraxia, Skeletal muscle atrophy, Incoordination, Facial palsy, Paralysis, Tremor, Hyperki...	ORPHA:297
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Arrhythmia, Aganglionic megacolon	ORPHA:2151
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Action tremor, Rigidity, Truncal ataxia, Bradykinesia, Poor fine motor coordination, Dysdiadochok...	ORPHA:309854
Matthew-Wood Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Abnormal lung morphology, Pulmonary hypoplasia, ...	ORPHA:2470
Aniridia 1	Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,...	OMIM:106210
Multiple Sulfatase Deficiency	Optic atrophy, Abnormality of peripheral nerve conduction	ORPHA:585
Systemic Mastocytosis With Associated Hematologic Neoplasm	Tachycardia, Syncope, Hypotension, Weight loss	ORPHA:98849
Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Hypovolemia, Increased circulating renin lev...	ORPHA:427
Erythrocytosis, Familial, 2	Hypotension, Pulmonary arterial hypertension, Failure to thrive, Cerebral hemorrhage	OMIM:263400
Seckel Syndrome	Cachexia	ORPHA:808
Pseudohypoparathyroidism Type 1A	Calcinosis, Prolonged QT interval, Spinal cord compression, Dyspnea, Obesity, Hypertension, Hyper...	ORPHA:79443
Pseudohypoparathyroidism Type 1C	Calcinosis, Prolonged QT interval, Dyspnea, Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemi...	ORPHA:79444
Osteosarcoma	Pain, Weight loss	ORPHA:668
Short Qt Syndrome 7	Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation	OMIM:620231
Non-Syndromic Posterior Hypospadias	Cryptorchidism, Small for gestational age, Congenital diaphragmatic hernia	ORPHA:95706
Prader-Willi Syndrome	Hypoventilation, Hypopigmentation of hair, Decreased muscle mass, Failure to thrive in infancy, I...	OMIM:176270
Imerslund-Gräsbeck Syndrome	Tachycardia, Failure to thrive, Weight loss	ORPHA:35858
Inhalational Anthrax	Respiratory distress, Dyspnea, Internal hemorrhage, Hypotension	ORPHA:247257
Hurler Syndrome	Abnormal nerve conduction velocity, Macroglossia, Camptodactyly of finger	ORPHA:93473
Hypermobile Ehlers-Danlos Syndrome	Apnea, Decreased nerve conduction velocity, Aplasia/Hypoplasia of the abdominal wall musculature,...	ORPHA:285
45,X/46,Xy Mixed Gonadal Dysgenesis	Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Unilateral cryptorchidism, Bilateral c...	ORPHA:1772
Familial Thrombocytosis	Transient ischemic attack, Weight loss, Syncope, Cerebral ischemia, Pulmonary arterial hypertension	ORPHA:71493
Cap Polyposis	Hematochezia, Weight loss	ORPHA:160148
2Q37 Microdeletion Syndrome	Tracheomalacia, Obesity, Congenital diaphragmatic hernia	ORPHA:1001
Simpson-Golabi-Behmel Syndrome, Type 1	Neonatal respiratory distress, Facial hypotonia, Ventricular septal defect, Congenital diaphragma...	OMIM:312870
Limb Body Wall Complex	Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Spina bifida, Abnorm...	ORPHA:2369
Secondary Short Bowel Syndrome	Aganglionic megacolon, Low plasma citrulline, Abnormal blood ion concentration, Dehydration, Weig...	ORPHA:95427
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Ascites, Portal hypertension, Weight loss	ORPHA:131
Pde4D Haploinsufficiency Syndrome	Cryptorchidism, Obesity, Hypotension	ORPHA:439822
Pelizaeus-Merzbacher Disease In Female Carriers	Hand apraxia, Babinski sign, Lower limb spasticity, Spastic paraparesis	ORPHA:280229
Thymic Neuroendocrine Tumor	Pancreatic islet cell adenoma, Weight loss, Chest pain, Neuroendocrine neoplasm, Carcinoid tumor	ORPHA:97289
Kabuki Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Abnormal cardiac septum morphology, Fai...	ORPHA:2322
Peritoneal Cystic Mesothelioma	Weight loss, Abdominal pain	ORPHA:168816
Mullegama-Klein-Martinez Syndrome	Facial palsy, Congenital diaphragmatic hernia, Hypoplastic left heart, Apical muscular ventricula...	OMIM:301022
Cornelia De Lange Syndrome 1	Ventricular septal defect, Pneumonia, Congenital diaphragmatic hernia, Cryptorchidism, Optic disc...	OMIM:122470
Alström Syndrome	Respiratory distress, Hypoplasia of the Leydig cells, Portal hypertension, Testicular fibrosis, D...	ORPHA:64
Dpagt1-Cdg	Prolonged QT interval, Flexion contracture, Optic atrophy, Intracranial hemorrhage, Anasarca, Pul...	ORPHA:86309
Post-Traumatic Pituitary Deficiency	Decreased testicular size, Hypotension	ORPHA:95619
Immunodeficiency 31C	Skeletal muscle atrophy, Recurrent respiratory infections, Bronchiectasis, Weight loss, Cough	OMIM:614162
Multiple Pterygium Syndrome, Escobar Variant	Neonatal respiratory distress, Multiple joint contractures, Congenital diaphragmatic hernia, Weak...	OMIM:265000
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Back pain, Bilateral camptodactyly, Fatigue, Spastic paraparesis	OMIM:619234
Pancreatitis, Hereditary	Pleural effusion	OMIM:167800
Smith-Lemli-Opitz Syndrome	Aganglionic megacolon, Ventricular septal defect, Congenital diaphragmatic hernia, Polyhydramnios...	ORPHA:818
Oculocerebrocutaneous Syndrome	Cryptorchidism, Congenital diaphragmatic hernia	ORPHA:1647
Celiac Disease, Susceptibility To, 1	Ataxia, Abdominal pain, Weight loss, Arthralgia, Failure to thrive	OMIM:212750
17Q24.2 Microdeletion Syndrome	Prolonged QT interval, Failure to thrive in infancy, Patent ductus arteriosus after birth at term...	ORPHA:529962
Plague	Respiratory distress, Tachycardia, Edema, Hematemesis, Endocarditis, Acute infectious pneumonia, ...	ORPHA:707
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Fatigue, Chills, Weight loss	ORPHA:86884
Inhalational Botulism	Paralysis	ORPHA:254504
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Hypoventilation, Failure to thrive, Ataxia, Cerebral cortical neurodegenerati...	OMIM:203700
Cataract 23, Multiple Types	Lamellar cataract	OMIM:610425
Acro-Renal-Mandibular Syndrome	Abnormal lung lobation, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Oligohydramnios	ORPHA:958
Pierson Syndrome	Diffuse mesangial sclerosis, Rieger anomaly, Cataract, Proteinuria, Hypoplasia of the ciliary bod...	OMIM:609049
Renal Tubular Acidosis Iii	Periodic paralysis	OMIM:267200
Isolated Anencephaly	Congenital diaphragmatic hernia	ORPHA:563609
Addison Disease	Hyponatremia, Orthostatic hypotension, Primary testicular failure, Hypercalcemia, Hyperkalemia, W...	ORPHA:85138
Acromesomelic Dysplasia 4	Third degree atrioventricular block	OMIM:619636
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ...	ORPHA:91495
Porphyria, Acute Intermittent	Respiratory paralysis, Paralysis	OMIM:176000
Corticosteroid-Binding Globulin Deficiency	Hypertension, Hypokalemia, Hypotension	OMIM:611489
Perlman Syndrome	Edema, Congenital diaphragmatic hernia, Large for gestational age, Cryptorchidism, Hypoplasia of ...	OMIM:267000
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Paralysis	ORPHA:83601
Nodular Non-Suppurative Panniculitis	Weight loss, Arthralgia, Myalgia, Abdominal pain	ORPHA:33577
Cystinosis, Nephropathic	Hyponatremia, Skeletal muscle atrophy, Failure to thrive in infancy, Cerebral atrophy, Reduced bl...	OMIM:219800
Solitary Fibrous Tumor	Reduced C-peptide level, Weight loss, Neoplasm of the lung, Neoplasia of the pleura, Hypophosphat...	ORPHA:2126
Igg4-Related Aortitis	Asthma, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:449400
Acute Radiation Syndrome	Interstitial pneumonitis, Hypotension, Telangiectasia	ORPHA:454831
Goodpasture Syndrome	Crackles, Nodular pattern on pulmonary HRCT, Increased DLCO, Tachypnea, Increased blood urea nitr...	OMIM:233450
Ichthyosis, Congenital, Autosomal Recessive 2	Paralysis	OMIM:242100
Arima Syndrome	Dyspnea, Tachypnea, Optic atrophy, Ataxia	OMIM:243910
Norrie Disease	Clonus, Cachexia, Optic atrophy, Hypertonia, Failure to thrive, Cerebral cortical atrophy	ORPHA:649
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Extrapyramidal muscular rigidity, Tremor, Hemiplegia/hemip...	ORPHA:51
Eales Disease	Optic disc pallor, Spastic paraparesis	ORPHA:40923
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Cataract, Band keratopathy, Bicarbonaturia, Bicarbonate-wasting renal tubular ...	ORPHA:47159
Caroli Disease	Portal hypertension, Conjugated hyperbilirubinemia, Abnormal circulating alpha-fetoprotein concen...	ORPHA:53035
Refractory Celiac Disease	Hypomagnesemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Recurrent pharyngitis, Recurrent pneumonia, Hyperkalemia, Bronchiectasis, Recurrent...	ORPHA:293978
Congenital Isolated Acth Deficiency	Hyponatremia, Hyperkalemia, Hypotension	ORPHA:199296
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Tachypnea	OMIM:615751
Klatskin Tumor	Fatigue, Weight loss, Abdominal pain	ORPHA:99978
Proteus Syndrome	Myofibrillar myopathy, Decreased muscle mass, Cachexia, Sudden cardiac death	ORPHA:744
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Acute Monoblastic/Monocytic Leukemia	Periorbital edema, Weight loss, Exertional dyspnea	ORPHA:514
Arnold-Chiari Malformation Type I	Abnormality of the musculature of the lower limbs, Babinski sign, Vocal cord paralysis, Gait atax...	ORPHA:268882
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Inflammatory Pseudotumor Of The Liver	Weight loss, Asthenia, Abdominal pain	ORPHA:90003
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Cryptorchidism, Hyperkalemia, Hypovolemia, Dehydration, Abnormal circulating choles...	ORPHA:168558
Brugada Syndrome 4	Shortened QT interval, Syncope, Atrial fibrillation	OMIM:611876
Congenital Tufting Enteropathy	Failure to thrive, Optic disc coloboma, Dehydration, Weight loss	ORPHA:92050
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormal lung morphology, Abnormal testis morphology, Elevated circulating C-reactive protein con...	ORPHA:54251
Cockayne Syndrome Type 3	Optic disc pallor, Skeletal muscle atrophy, Peripheral axonal neuropathy, Flexion contracture, Br...	ORPHA:90324
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Cryptorchidism, Hyperkalemia, Hypovolemia, Dehydration, Abnormal circulating choles...	ORPHA:289548
Oculodentodigital Dysplasia	Ataxia, Camptodactyly of finger, Optic atrophy, Spastic paraparesis, Spasticity	ORPHA:2710
Osteootohepatoenteric Syndrome	Asthma, Dehydration, Weight loss, Hypokalemia, Increased serum bile acid concentration, Failure t...	OMIM:619377
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Shock, Hyponatremia, Hypovolemia, Hyperkalemia, Testicular adrenal rest tumor, Weight loss, Hypoc...	ORPHA:90794
Glucose-Galactose Malabsorption	Hypercalcemia, Dehydration, Weight loss, Hypernatremia, Failure to thrive	ORPHA:35710
Acrofacial Dysostosis 1, Nager Type	Aganglionic megacolon, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus ...	OMIM:154400
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Ventricular septal defect, Congenital diaphragmatic hernia, Partial anomalous pulmonary venous re...	OMIM:301044
Acute Liver Failure	Shock, Gastrointestinal hemorrhage, Abnormal respiratory system physiology, Hyperammonemia, Hepat...	ORPHA:90062
Cushing Syndrome Due To Ectopic Acth Secretion	Myocardial infarction, Small cell lung carcinoma, Increased body weight, Pedal edema, Proximal am...	ORPHA:99889
Carney-Stratakis Syndrome	Weight loss, Paraganglioma, Abdominal pain	ORPHA:97286
Hydrolethalus Syndrome 1	Ventricular septal defect, Polyhydramnios, Complete atrioventricular canal defect, Abnormal lung ...	OMIM:236680
Encephalocraniocutaneous Lipomatosis	Paralysis, Rigidity, Tetraplegia, Hemiparesis, Hypertonia, Hemiplegia, Spasticity	ORPHA:2396
Poland Syndrome	Dextrocardia, Congenital diaphragmatic hernia, Cryptorchidism, Aplasia of the pectoralis major mu...	ORPHA:2911
Argininemia	Cerebellar atrophy, Progressive spastic quadriplegia, Spastic paraparesis, Frequent falls, Spasti...	OMIM:207800
Bullous Pemphigoid	Weight loss	ORPHA:703
Parathyroid Carcinoma	Hypercalcemia, Testicular neoplasm, Shortened QT interval, Weight loss, Hypophosphatemia	ORPHA:143
Bartter Syndrome, Type 3	Hyperchloriduria, Dehydration, Hypokalemia, Increased circulating renin level, Hypotension	OMIM:607364
Medullary Thyroid Carcinoma	Pheochromocytoma, Weight loss	ORPHA:1332
Vipoma	Hypercalcemia, Respiratory insufficiency due to muscle weakness, Dehydration, Weight loss, Hemato...	ORPHA:97282
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Dyspnea, Weight loss, Aspirati...	ORPHA:1018
Gallbladder Neuroendocrine Tumor	Neuroendocrine neoplasm, Weight loss, Chronic fatigue, Episodic abdominal pain	ORPHA:100086
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy	OMIM:613154
Multiple Endocrine Neoplasia Type 1	Hypercalcemia, Shortened QT interval, Hematemesis, Cranial nerve compression, Dehydration, Weight...	ORPHA:652
Fragile X-Associated Tremor/Ataxia Syndrome	Hypertension, Abnormal autonomic nervous system physiology, Hypotension, Diffuse cerebellar atrop...	ORPHA:93256
Say-Barber-Miller Syndrome	Babinski sign, Optic atrophy, Elbow flexion contracture, Knee flexion contracture, Ankle clonus, ...	ORPHA:3132
Insulin-Resistance Syndrome Type B	Pneumonia, Abnormality of body weight, Abnormal circulating fatty-acid concentration, Increased b...	ORPHA:2298
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis	OMIM:226100
Hereditary Sensory And Autonomic Neuropathy Type 4	Pain insensitivity, Somatic sensory dysfunction, Impaired temperature sensation, Distal sensory i...	ORPHA:642
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Joint swelling, Flexion contracture, Weight loss	ORPHA:85408
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hypertension, Hyperuricemia, Hypotension, Cerebral...	OMIM:174000
Pallister-Killian Syndrome	Sparse scalp hair, Alopecia, Tethered cord, Sparse eyelashes, Supernumerary nipple, Congenital di...	OMIM:601803
Ppoma	Gastrointestinal hemorrhage, Ascites, Hypercalcemia, Weight loss	ORPHA:97278
Pituitary Apoplexy	Hyponatremia, Hypertension, Hypotension	ORPHA:95613
Cornelia De Lange Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Increased nuchal tran...	ORPHA:199
Grfoma	Gastrointestinal hemorrhage, Hypercalcemia, Weight loss, Neoplasm of the lung, Ascites	ORPHA:97261
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Palpebral edema, Facial edema, Xerostomia, Weight loss, Abnormality of the extraocular ...	ORPHA:79078
Iniencephaly	Spina bifida, Congenital diaphragmatic hernia, Polyhydramnios, Spinal dysraphism, Syringomyelia, ...	ORPHA:63259
Non-Functioning Pituitary Adenoma	Macroorchidism, Macroorchidism, postpubertal, Hypotension	ORPHA:91349
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Elbow flexion contracture, Congenital diaphragmatic hernia	OMIM:618022
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hypoventilation, Central hypoventilation, Impaired pain sensation, Asthma, Obesity, Cardiorespira...	ORPHA:293987
Somatostatinoma	Gastrointestinal hemorrhage, Ascites, Hypercalcemia, Weight loss	ORPHA:97283
Short Syndrome	Weight loss	ORPHA:3163
Acrodermatitis Enteropathica	Failure to thrive, Cerebral cortical atrophy, Weight loss	ORPHA:37
Pemphigus Vulgaris	Weight loss	ORPHA:704
Craniorachischisis	Cervical spina bifida, Congenital diaphragmatic hernia, Spinal dysraphism	ORPHA:63260
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Hand tremor, Weight loss	ORPHA:424
Coffin-Siris Syndrome 1	Recurrent respiratory infections, Ventricular septal defect, Congenital diaphragmatic hernia, Cry...	OMIM:135900
Immunodeficiency 82 With Systemic Inflammation	Pneumonia, Elevated circulating C-reactive protein concentration, Bronchitis, Bronchiectasis, Wei...	OMIM:619381
Glucagonoma	Gastrointestinal hemorrhage, Ascites, Hypercalcemia, Weight loss	ORPHA:97280
Acrorenal-Mandibular Syndrome	Elbow flexion contracture, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Oligohydramnios	OMIM:200980
Craniofrontonasal Syndrome	Cryptorchidism, Congenital diaphragmatic hernia	OMIM:304110
Woodhouse-Sakati Syndrome	Abnormal T-wave, Hyperlipidemia, Decreased testicular size	OMIM:241080
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Familial Pancreatic Carcinoma	Back pain, Weight loss, Chronic fatigue, Abdominal pain	ORPHA:1333
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Elevated circulating C-reactive protein concentration, Elevated circulating creatini...	ORPHA:91500
Woodhouse-Sakati Syndrome	Abnormal T-wave, Hyperlipidemia, Decreased testicular size	ORPHA:3464
Prolactinoma	Hypotension	ORPHA:2965
Diaphragmatic Hernia 2	Agenesis of the diaphragm, Congenital diaphragmatic hernia	OMIM:222400
Zollinger-Ellison Syndrome	Hematochezia, Gastrointestinal hemorrhage, Hypercalcemia, Weight loss	ORPHA:913
C Syndrome	Failure to thrive in infancy, Polyhydramnios, Congenital diaphragmatic hernia, Cryptorchidism, Ap...	ORPHA:1308
Familial Gestational Hyperthyroidism	Hand tremor, Weight loss	ORPHA:99819
Malt Lymphoma	Fatigue, Weight loss, Abdominal pain	ORPHA:52417
Focal Dermal Hypoplasia	Diastasis recti, Congenital diaphragmatic hernia, Cryptorchidism, Optic atrophy, Telangiectasia, ...	OMIM:305600
Witteveen-Kolk Syndrome	Small for gestational age, Unilateral cryptorchidism, Congenital diaphragmatic hernia, Polyhydram...	OMIM:613406
Pancreatic Triacylglycerol Lipase Deficiency	Fatigue, Weight loss, Abdominal pain	ORPHA:309031
Monosomy 9P	Cryptorchidism, Congenital diaphragmatic hernia	ORPHA:261112
Distal Renal Tubular Acidosis	Paralysis	ORPHA:18
Primary Fanconi Renotubular Syndrome	Hypouricemia, Bicarbonaturia, Dehydration, Hypophosphatemia, Weight loss, Hypokalemia, Pulmonary ...	ORPHA:3337
Tetraamelia Syndrome 1	Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia, Congenital diaphragmatic hernia	OMIM:273395
Pancreatoblastoma	Weight loss, Abdominal pain	ORPHA:677
Tropical Pancreatitis	Epigastric pain, Weight loss	ORPHA:103918
Osteopetrosis, Autosomal Recessive 3	Periodic hypokalemic paresis	OMIM:259730
Pineoblastoma	Paralysis	ORPHA:251909
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Recurrent respiratory infections, Elevated circulating C-reactive protein concentration, Weight loss	OMIM:301074
Microphthalmia, Syndromic 2	Flexion contracture, Spastic paraparesis, Contracture of the proximal interphalangeal joint of th...	OMIM:300166
Combined Pituitary Hormone Deficiencies, Genetic Forms	Decreased testicular size, Septo-optic dysplasia, Optic nerve hypoplasia, Hypotension	ORPHA:95494
Non-Acquired Panhypopituitarism	Decreased testicular size, 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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