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Gene: Ldb3 MGI:1344412

Gene Summary

Name:

LIM domain binding 3

Synonyms:

ZASP, cypher

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
increased large unstained cell number	Ldb3^{tm2b(EUCOMM)Hmgu}	HET	Early adult	1.75×10^-08
prolonged QRS complex duration	Ldb3^{tm2b(EUCOMM)Hmgu}	HET	Early adult	2.03×10^-06
enlarged kidney	Ldb3^{tm2b(EUCOMM)Hmgu}	HET	Early adult	0.00
preweaning lethality, complete penetrance	Ldb3^{tm2b(EUCOMM)Hmgu}	HOM	Early adult	0.00
small seminal vesicle	Ldb3^{tm2b(EUCOMM)Hmgu}	HET	Early adult	0.00
decreased locomotor activity	Ldb3^{tm2b(EUCOMM)Hmgu}	HET	Early adult	3.30×10^-06
increased basophil cell number	Ldb3^{tm2b(EUCOMM)Hmgu}	HET	Early adult	2.42×10^-05

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lacZ Expression

No Adult expression data was found for this gene.

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Brain	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	homozygote	0.0% (0 of 2)
Ear	N/A	heterozygote	0.0% (0 of 2)
Ear	N/A	homozygote	0.0% (0 of 2)
Embryo	N/A	heterozygote	100% (2 of 2)
Embryo	N/A	homozygote	100% (2 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	homozygote	0.0% (0 of 2)
Footplate	N/A	heterozygote	0.0% (0 of 2)
Footplate	N/A	homozygote	0.0% (0 of 2)
Forebrain	N/A	heterozygote	0.0% (0 of 2)
Forebrain	N/A	homozygote	0.0% (0 of 2)
Forelimb	N/A	heterozygote	0.0% (0 of 2)
Forelimb	N/A	homozygote	50% (1 of 2)
Handplate	N/A	heterozygote	0.0% (0 of 2)
Handplate	N/A	homozygote	0.0% (0 of 2)
Head	N/A	heterozygote	0.0% (0 of 2)
Head	N/A	homozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	50% (1 of 2)
Heart	N/A	homozygote	50% (1 of 2)
Hindbrain	N/A	heterozygote	0.0% (0 of 2)
Hindbrain	N/A	homozygote	0.0% (0 of 2)
Hindlimb	N/A	heterozygote	0.0% (0 of 2)
Hindlimb	N/A	homozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	homozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	homozygote	0.0% (0 of 2)
Mandibular process	N/A	heterozygote	0.0% (0 of 2)
Mandibular process	N/A	homozygote	0.0% (0 of 2)
Maxillary process	N/A	heterozygote	0.0% (0 of 2)
Maxillary process	N/A	homozygote	0.0% (0 of 2)
Midbrain	N/A	heterozygote	0.0% (0 of 2)
Midbrain	N/A	homozygote	0.0% (0 of 2)
Oral cavity	N/A	heterozygote	0.0% (0 of 2)
Oral cavity	N/A	homozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	homozygote	0.0% (0 of 2)
Tail somite	N/A	heterozygote	100% (2 of 2)
Tail somite	N/A	homozygote	100% (2 of 2)
Tail	N/A	heterozygote	100% (2 of 2)
Tail	N/A	homozygote	100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
brain	0.0%
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
oral cavity	0.0%
skin	0.0%
tail	0.0%
tail somite group	0.0%

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

11 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

6 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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MicroCT E18.5

Embryo reconstruction

4 Images

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Embryo LacZ

LacZ images wholemount

8 Images

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Human diseases caused by Ldb3 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 Ldb3 (4 diseases)
Human diseases predicted to be associated with Ldb3 (1620 diseases)

The table below shows human diseases associated to Ldb3 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Myopathy, Myofibrillar, 4	Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ...	OMIM:609452
Familial Isolated Dilated Cardiomyopathy	Myopathy, Dilated cardiomyopathy	ORPHA:154
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Fatigable weakness of distal limb muscles, Ankle weaknes...	ORPHA:98912

The table below shows human diseases predicted to be associated to Ldb3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Distal Myopathy With Posterior Leg And Anterior Hand Involvement	Somatic sensory dysfunction, Fatiguable weakness of proximal limb muscles, Inability to walk, Res...	ORPHA:63273
Myopathy, Distal, 5	Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower...	OMIM:617030
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d...	OMIM:609115
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Cardiomyopathy...	ORPHA:603
Hereditary Myopathy With Early Respiratory Failure	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Neck flexor weakness, Type ...	ORPHA:178464
Myopathy, Distal, 4	Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the...	OMIM:614065
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Distal muscle weakness, Autophagic vacuoles, Facial hypotonia, Proximal m...	ORPHA:266
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Gowers sign, Flexion contractu...	OMIM:253700
Myopathy, Autophagic Vacuolar, Infantile-Onset	Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles	OMIM:609500
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Waddling gait, Reduced vital capacity, Scapular winging, Neck flexor weakness, Calf muscle pseudo...	OMIM:608358
Cardiomyopathy, Dilated, 1M	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:607482
Carnitine Deficiency, Myopathic	Myopathy, Reduced muscle carnitine level	OMIM:212160
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Inclusion Body Myositis	Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red...	ORPHA:611
Nonaka Myopathy	Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu...	OMIM:605820
Myopathy, Myofibrillar, 3	Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus...	OMIM:609200
Cardiomyopathy, Dilated, 2A	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:611880
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Progressive distal muscle weakness, Respirato...	ORPHA:399058
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle...	OMIM:618655
Nemaline Myopathy 6	Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy	OMIM:609273
Tibial Muscular Dystrophy	Centrally nucleated skeletal muscle fibers, Ankle weakness, Quadriceps muscle weakness, Peroneal ...	ORPHA:609
Arthrogryposis Multiplex Congenita 2, Neurogenic Type	Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy	OMIM:208100
Klhl9-Related Early-Onset Distal Myopathy	Progressive distal muscle weakness, Ankle flexion contracture, Amyotrophy of ankle musculature, I...	ORPHA:399081
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Cardiomyopathy Associated With Myopathy And Sudden Death	Myopathy, Asymmetric septal hypertrophy	OMIM:212130
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
Exercise Intolerance, Riboflavin-Responsive	Ragged-red muscle fibers	OMIM:616839
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Autosomal Dominant Spastic Paraplegia Type 31	Hand muscle weakness, Impaired proprioception, Distal sensory impairment, Proximal muscle weaknes...	ORPHA:101011
Polyglucosan Body Myopathy 2	Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we...	OMIM:616199
Adult-Onset Nemaline Myopathy	Reduced vital capacity, Neck flexor weakness, Respiratory insufficiency due to muscle weakness, D...	ORPHA:171442
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Waddling gait, Proximal muscle weakness, Gowers sign, Unsteady gait, Dilated cardiomyopathy, Myop...	OMIM:612937
Inclusion Body Myositis	Distal muscle weakness, Proximal muscle weakness, Inflammatory myopathy, Dysphagia, Rimmed vacuoles	OMIM:147421
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ...	OMIM:618848
Myopathy, Myofibrillar, 2	Orthopnea, Distal muscle weakness, Respiratory insufficiency due to muscle weakness, Limb-girdle ...	OMIM:608810
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Waddling gait, Respiratory distress, Proximal muscle weakness, Abdominal pain, Limb-girdle muscle...	ORPHA:86812
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne...	OMIM:615424
Myopathy, Myofibrillar, 5	Waddling gait, Proximal muscle weakness, Respiratory insufficiency, Muscle fiber cytoplasmatic in...	OMIM:609524
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Cardiomyopathy, Dilated, 1Jj	Reduced left ventricular ejection fraction, Dilated cardiomyopathy	OMIM:615235
Cardiomyopathy, Dilated, 1Ff	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy...	OMIM:613286
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ...	OMIM:302045
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re...	OMIM:617610
Bethlem Myopathy 1	Skeletal muscle atrophy, Torticollis, Distal muscle weakness, Congenital muscular torticollis, Ca...	OMIM:158810
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P...	OMIM:601954
Oculopharyngeal Muscular Dystrophy 1	Distal muscle weakness, Facial palsy, Proximal muscle weakness, Gait disturbance, Neck muscle wea...	OMIM:164300
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Bulbar palsy, Sudden episodic apnea, Respiratory insufficiency due to muscl...	OMIM:605809
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur...	OMIM:608099
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Neck flexor weakness, Elbow contracture, Ankle contracture, Proximal muscle weak...	OMIM:620386
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Proximal muscle weakness, Fatty replacement of skeletal muscle, Respiratory insufficiency, Feedin...	OMIM:255100
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Cardiomyopathy, Dilated, 1L	Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,...	OMIM:606685
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ...	OMIM:613252
Distal Nebulin Myopathy	Neck flexor weakness, Progressive distal muscle weakness, Ankle flexion contracture, Fatty replac...	ORPHA:399103
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy...	OMIM:608807
Congenital Myopathy 6 With Ophthalmoplegia	Waddling gait, Scapular winging, Distal muscle weakness, Muscle fiber inclusion bodies, Proximal ...	OMIM:605637
Congenital Myopathy 4B, Autosomal Recessive	Distal lower limb amyotrophy, Proximal muscle weakness, Nemaline bodies, Generalized muscle weakn...	OMIM:609284
Cardiomyopathy, Dilated, 1X	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,...	OMIM:611615
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Waddling gait, Proximal muscle weakness, Chorea, Right ventricular dilatation, Restrictive ventil...	ORPHA:369840
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Progressive proximal muscle weakness, Chorea, Right ventricular dilatation, Restrictive ventilato...	ORPHA:369847
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Death in infancy, Poor head control, Respiratory failure requiring assisted ventilation, Nemaline...	OMIM:620265
Mitochondrial Myopathy With Diabetes	Ataxia, Facial palsy, Proximal muscle weakness, Ragged-red muscle fibers, Proximal amyotrophy, EM...	OMIM:500002
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c...	OMIM:613172
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ...	ORPHA:2593
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea...	OMIM:181350
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Oculopharyngodistal Myopathy 2	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of...	OMIM:618940
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Peroneal muscle atrophy, Scapuloperoneal weakness, Z-band streaming, Shoulder girdle muscle atrop...	OMIM:181400
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Card...	OMIM:612999
Nemaline Myopathy 8	Death in infancy, Facial palsy, Flexion contracture, Ophthalmoparesis, Respiratory failure, Dysph...	OMIM:615348
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card...	OMIM:605362
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle...	OMIM:604286
Rigid Spine Syndrome	Waddling gait, Skeletal muscle atrophy, Poor head control, Hip contracture, Pneumonia, Gowers sig...	ORPHA:97244
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Waddling gait, Bulbar palsy, Facial palsy, Gowers sign, Dyspnea, Flexion contracture, Dysphagia, ...	OMIM:603511
Nemaline Myopathy 5C, Autosomal Dominant	Waddling gait, Skeletal muscle atrophy, Poor head control, Scapular winging, Proximal muscle weak...	OMIM:620389
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibe...	OMIM:300580
Cardiomyopathy, Dilated, 1Hh	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy	OMIM:613881
Facial Onset Sensory And Motor Neuronopathy	Skeletal muscle atrophy, Paresthesia, Muscle weakness, Dysphagia	ORPHA:85162
Myopathy, Distal, Tateyama Type	Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ...	OMIM:614321
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613642
Mitochondrial Complex Iv Deficiency, Nuclear Type 9	Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation	OMIM:616500
Fingerprint Body Myopathy	Myopathy	OMIM:305550
Congenital Myopathy With Myasthenic-Like Onset	Scapular winging, Multiple joint contractures, Proximal muscle weakness, Respiratory insufficienc...	ORPHA:424107
Batten-Turner Congenital Myopathy	Myopathy	OMIM:255300
Myopathy, Distal, 1	Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Left atrial enlargement, Facial palsy,...	OMIM:160500
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Neck flexor weakness, Weakness of long finger extensor muscles, Upper li...	ORPHA:98913
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Acetyl-Coa Carboxylase Deficiency	Myopathy	OMIM:613933
Nemaline Myopathy 7	Waddling gait, Respiratory insufficiency due to muscle weakness, Gowers sign, Fatty replacement o...	OMIM:610687
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter	ORPHA:1878
Spinal Muscular Atrophy, Type Iv	Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ...	OMIM:271150
Myasthenic Syndrome, Congenital, 5	Decreased muscle mass, Respiratory insufficiency due to muscle weakness, Feeding difficulties in ...	OMIM:603034
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Sensorineural Deafness With Dilated Cardiomyopathy	Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy	ORPHA:217622
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e...	OMIM:619897
Myopathy, Sarcoplasmic Body	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus...	OMIM:620286
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Progressive external ophthalmoplegia, Gowers sign, Dyspnea, Ophthalmoparesis, Myopathy, Shoulder ...	OMIM:615156
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart	ORPHA:3283
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates	Myopathy	ORPHA:88635
Myopathy And Diabetes Mellitus	Impaired vibratory sensation, Respiratory distress, Distal lower limb amyotrophy, Inability to wa...	ORPHA:2596
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Progressive external ophthalmoplegia, Bulbar palsy, Distal muscle weakness,...	ORPHA:254875
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Inability to walk, Impaired distal vibration sensation, ...	ORPHA:276435
Oculopharyngeal Muscular Dystrophy	Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology	ORPHA:270
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ...	ORPHA:34516
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl...	OMIM:618129
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Congestive heart failure, Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contr...	ORPHA:206546
Spastic Paraplegia 31, Autosomal Dominant	Skeletal muscle atrophy, Distal sensory impairment, Distal amyotrophy, Dysphagia, Lower limb musc...	OMIM:610250
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency	Myopathy, Respiratory insufficiency, Muscle weakness, Feeding difficulties	OMIM:616314
Congenital Myopathy 2A, Typical, Autosomal Dominant	Waddling gait, Bulbar palsy, Neck flexor weakness, Facial palsy, Proximal muscle weakness, Respir...	OMIM:161800
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers	OMIM:618992
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
Myopathy, Distal, With Anterior Tibial Onset	Loss of ambulation, Myopathy, Proximal muscle weakness	OMIM:606768
Myopathy, Myofibrillar, 6	Scapular winging, Distal muscle weakness, Facial palsy, Proximal muscle weakness, Reduced forced ...	OMIM:612954
Glycogen Storage Disease Due To Lamp-2 Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:34587
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Waddling gait, Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Neck flexor weakness,...	OMIM:254110
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Thenar muscle atrophy, Dilated cardiomyopathy, Distal lower limb muscle weakness, Interosseus mus...	OMIM:619903
Distal Myotilinopathy	Multiple joint contractures, Progressive distal muscle weakness, Progressive proximal muscle weak...	ORPHA:98911
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Reduced vital capacity, Scapular winging, Neck flexor weakness, Proximal muscle weakness, Quadric...	OMIM:603689
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hypertrophy, Shoulde...	ORPHA:34515
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Distal muscle weakness, Progressive muscle weakness, Dilated cardiomyopa...	ORPHA:59135
Mitochondrial Complex I Deficiency, Nuclear Type 25	Myopathy, Failure to thrive, Nemaline bodies	OMIM:618246
Perching Syndrome	Respiratory distress, Cyanosis, Feeding difficulties, Dysphagia, Joint contracture, Camptodactyly	OMIM:617055
Zebra Body Myopathy	Waddling gait, Torticollis, Distal muscle weakness, Autophagic vacuoles, Facial palsy, Proximal m...	ORPHA:97240
Finnish Upper Limb-Onset Distal Myopathy	Progressive distal muscle weakness, Fatty replacement of skeletal muscle, Progressive proximal mu...	ORPHA:399086
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7	Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Impaired tactile ...	OMIM:619216
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Bulbar palsy, Sudden episodic apnea, Respiratory insufficiency due to muscl...	OMIM:254210
Childhood-Onset Nemaline Myopathy	Flexion contracture, Neuromuscular dysphagia, Increased muscle lipid content, Type 1 muscle fiber...	ORPHA:171439
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm...	ORPHA:168796
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:...	OMIM:253601
Multiminicore Myopathy	Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne...	ORPHA:598
Lethal Congenital Contracture Syndrome 3	Skeletal muscle atrophy, Multiple joint contractures, Respiratory insufficiency, Neonatal death, ...	OMIM:611369
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Scapular winging, Distal muscle weakness, Autophagic vacuoles, Centrally nucleated skeletal muscl...	OMIM:608423
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Poor head control, Facial palsy, Camptodactyly of finger, Diaphragmatic par...	OMIM:614399
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Impaired vibratory sensation, Waddling gait, Somatic sensory dysfunction, Proximal muscle weaknes...	OMIM:616924
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans	Myopathy, Scapulohumeral muscular dystrophy	OMIM:160570
Inclusion Body Myopathy And Brain White Matter Abnormalities	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:619733
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Myopathy	ORPHA:206599
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy...	OMIM:619178
Barth Syndrome	Dilated cardiomyopathy, Endocardial fibroelastosis	ORPHA:111
Myopathy, Myofibrillar, 1	Bulbar palsy, Distal muscle weakness, Facial palsy, Respiratory insufficiency due to muscle weakn...	OMIM:601419
Merrf	Myopathy, Ragged-red muscle fibers	ORPHA:551
Tibial Muscular Dystrophy, Tardive	EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles	OMIM:600334
Nemaline Myopathy 2	Skeletal muscle atrophy, Neck flexor weakness, Apnea, Fatty replacement of skeletal muscle, Flexi...	OMIM:256030
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Dilated cardiomyopathy, Flexion contracture, Increased variability in muscle fiber diameter, Musc...	OMIM:300718
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:612877
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio...	OMIM:611705
Cardiomyopathy, Dilated, 1K	Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm	OMIM:605582
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S...	OMIM:300696
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Proximal muscle weakness in upper limbs, Skeletal muscle atrophy, Shoulder flexion contracture, R...	OMIM:619566
Myopathy, Tubular Aggregate, 1	Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi...	OMIM:160565
Welander Distal Myopathy	Distal amyotrophy, Rimmed vacuoles	OMIM:604454
Microcephaly-Cardiomyopathy	Dilated cardiomyopathy	OMIM:251220
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability...	OMIM:613204
Bethlem Myopathy 2	Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter	OMIM:616471
Microcephaly-Cardiomyopathy Syndrome	Intrauterine growth retardation, Ventricular septal defect, Dilated cardiomyopathy, Short stature	ORPHA:2515
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T...	OMIM:616313
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu...	OMIM:619042
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy	OMIM:611283
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Elevated jugular venous pressure, Short stature, Muscle fiber hyaline bodie...	OMIM:255160
Cardiomyopathy, Familial Hypertrophic, 3	Hypertrophic cardiomyopathy, Sudden cardiac death	OMIM:115196
Carvajal Syndrome	Congestive heart failure, Dilated cardiomyopathy	ORPHA:65282
Muscle Filaminopathy	Scapular winging, Neck flexor weakness, Fatty replacement of skeletal muscle, Respiratory insuffi...	ORPHA:171445
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:2597
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber...	OMIM:605355
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Distal muscle weakness, Ataxia, Proximal muscle weakness, External ophthalmoplegia, Gastrointesti...	OMIM:618637
Dna2-Related Mitochondrial Dna Deletion Syndrome	Progressive external ophthalmoplegia, Multiple joint contractures, Limb-girdle muscle weakness, G...	ORPHA:352470
Spinal Muscular Atrophy, Facioscapulohumeral Type	Skeletal muscle atrophy, Spinal muscular atrophy	OMIM:182970
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Somatic sensory dysfunction, Fatiguable weakn...	ORPHA:90117
Dpm3-Cdg	Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weaknes...	ORPHA:263494
Oculopharyngodistal Myopathy	Oral-pharyngeal dysphagia, Loss of ambulation, Recurrent aspiration pneumonia, Foot dorsiflexor w...	ORPHA:98897
Congenital Myopathy 10B, Mild Variant	Neck flexor weakness, Elbow contracture, Reduced forced vital capacity, Progressive muscle weakne...	OMIM:620249
Rhabdomyolysis, Susceptibility To, 1	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,...	OMIM:620235
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca...	ORPHA:206559
Lethal Congenital Contracture Syndrome 8	Death in infancy, Oral-pharyngeal dysphagia, Flexion contracture, Distal sensory impairment, Feed...	OMIM:616287
Scapuloperoneal Myopathy, X-Linked Dominant	Waddling gait, Skeletal muscle atrophy, Scapular winging, Proximal muscle weakness, Achilles tend...	OMIM:300695
Cardiomyopathy, Dilated, 2C	Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy	OMIM:618189
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Dilated cardiomyopathy, Arrhythmia, Intrauterine growth retardation, Hy...	OMIM:616198
Myopathy, Myofibrillar, 4	Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ...	OMIM:609452
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Do...	OMIM:617912
Cardiomyopathy, Dilated, 1Q	Dilated cardiomyopathy	OMIM:609915
Cardiomyopathy, Dilated, 1H	Dilated cardiomyopathy	OMIM:604288
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C...	OMIM:617760
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Myopathy, Hypertrophic cardiomyopathy, Cyanosis	ORPHA:91130
Myasthenic Syndrome, Congenital, 25, Presynaptic	Poor head control, Flexion contracture, Feeding difficulties, Myopathy, Generalized amyotrophy, D...	OMIM:618323
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, Proximal ...	OMIM:167320
Heart-Hand Syndrome, Slovenian Type	Myopathy, Dilated cardiomyopathy	OMIM:610140
Glycogen Storage Disease 0, Muscle	Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla...	OMIM:611556
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Skeletal muscle atrophy, Reduced systolic function, Dilated cardiomyopathy, Macroglossia, Calf mu...	OMIM:616827
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Myopathy, Ragged-red muscle fibers, Ataxia, Muscle weakness	OMIM:545000
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Myopathy	ORPHA:2579
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus...	ORPHA:488650
Congenital Muscular Dystrophy Due To Lmna Mutation	Death in infancy, Poor head control, Skeletal muscle atrophy, Flexion contracture, Respiratory in...	ORPHA:157973
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12	Facial palsy, Quadriceps muscle atrophy, Calf muscle hypertrophy, Shoulder girdle muscle weakness...	OMIM:611307
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Nasogastric tube feedin...	ORPHA:254864
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Intrauterine growth retardation, Dilated cardiomyopathy, Short stature	OMIM:618097
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	Scapular winging, Distal muscle weakness, Neck flexor weakness, Centrally nucleated skeletal musc...	OMIM:601846
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I...	OMIM:117000
Sandhoff Disease, Adult Form	Gait ataxia, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Dysphagia, Musc...	ORPHA:309169
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Generalized muscle weakness, Flexion cont...	ORPHA:171433
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic cardiomyopathy	OMIM:613765
Myopathy, X-Linked, With Excessive Autophagy	Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ...	OMIM:310440
Neutral Lipid Storage Disease With Myopathy	Proximal muscle weakness, Gowers sign, Increased muscle lipid content, Cardiomyopathy, Myopathy, ...	OMIM:610717
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Myopathy	OMIM:613076
Facioscapulohumeral Muscular Dystrophy 1	Skeletal muscle atrophy, Abdominal wall muscle weakness, Scapular winging, Facial palsy, Beevor's...	OMIM:158900
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated...	OMIM:616852
Ethanolaminosis	Cardiomegaly	OMIM:227150
Cardiomyopathy, Dilated, 2B	Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate...	OMIM:614672
Congenital Myopathy 4A, Autosomal Dominant	Bulbar palsy, Limb joint contracture, Facial palsy, Proximal muscle weakness, Respiratory insuffi...	OMIM:255310
Neuralgic Amyotrophy	Scapular winging, Respiratory insufficiency, Paresthesia, Acrocyanosis, Muscle weakness	ORPHA:2901
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Gowers sign, Progress...	ORPHA:254361
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Cardiomegaly, Increased variability in muscle fiber ...	OMIM:618654
Nemaline Myopathy 10	Death in infancy, Bulbar palsy, Skeletal muscle atrophy, Facial palsy, Respiratory insufficiency ...	OMIM:616165
Myasthenic Syndrome, Congenital, 1A, Slow-Channel	Hand muscle atrophy, Intermittent episodes of respiratory insufficiency due to muscle weakness, O...	OMIM:601462
Congenital Myasthenic Syndromes With Glycosylation Defect	Waddling gait, Poor head control, Distal muscle weakness, Scapular winging, Facial palsy, Proxima...	ORPHA:353327
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy	OMIM:609283
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me...	OMIM:613496
Familial Isolated Dilated Cardiomyopathy	Myopathy, Dilated cardiomyopathy	ORPHA:154
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Hand muscle atrophy, Quadriceps muscle weakness, Impaired vibration sensation in the lower limbs,...	ORPHA:435387
Acute Inflammatory Demyelinating Polyradiculoneuropathy	Dysesthesia, Unsteady gait, Gait ataxia, Impaired oropharyngeal swallow response, Distal lower li...	ORPHA:98916
Autosomal Recessive Progressive External Ophthalmoplegia	Scapular winging, Ataxia, Facial palsy, Proximal muscle weakness, External ophthalmoplegia, Hand ...	ORPHA:254886
Myasthenic Syndrome, Congenital, 1B, Fast-Channel	Bulbar palsy, Facial palsy, Respiratory insufficiency due to muscle weakness, Gowers sign, Genera...	OMIM:608930
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Waddling gait, Broad-based gait, Gowers sign, Cardiomyopathy, Myopathy, Calf muscle hypertrophy, ...	ORPHA:119
Congenital Disorder Of Glycosylation, Type Iid	Myopathy, Decreased muscle mass	OMIM:607091
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency	Facial palsy, Gowers sign, Ophthalmoplegia, Generalized muscle weakness, Respiratory insufficienc...	OMIM:616325
Cardiomyopathy, Familial Hypertrophic, 15	Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef...	OMIM:613255
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Progressive external ophthalmoplegia, Scapular winging, Skeletal muscle atrophy, Proximal muscle ...	OMIM:617069
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Skeletal muscle atrophy, Hand muscle weakness, Axial muscle weakness, Type ...	ORPHA:98915
Cardiomyopathy, Familial Restrictive, 1	Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac...	OMIM:115210
Creatine Phosphokinase, Elevated Serum	Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa...	OMIM:123320
Presynaptic Congenital Myasthenic Syndromes	Limb-girdle muscle weakness, Gastroesophageal reflux, Muscle fiber atrophy, Frontalis muscle weak...	ORPHA:98914
Mitochondrial Myopathy, Lethal, Infantile	Myopathy	OMIM:551000
Congenital Myasthenic Syndrome	Limb-girdle muscle weakness, Gastroesophageal reflux, Muscle fiber atrophy, Frontalis muscle weak...	ORPHA:590
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers...	OMIM:160150
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy	OMIM:208750
Hypotonia, Infantile, With Psychomotor Retardation	Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter	OMIM:616816
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Myopathy	OMIM:230450
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Facial pals...	OMIM:619424
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,...	ORPHA:70589
Central Core Disease	Neonatal respiratory distress, Multiple joint contractures, Respiratory insufficiency due to musc...	ORPHA:597
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Myopathy	ORPHA:366
Distal Myopathy With Anterior Tibial Onset	Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h...	ORPHA:178400
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Skeletal muscle atrophy, Feeding difficulties in infancy, Generalized muscl...	ORPHA:238329
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f...	OMIM:615422
Peripartum Cardiomyopathy	Orthopnea, Left atrial enlargement, Crackles, Abdominal pain, Myocarditis, Dyspnea, Dilated cardi...	ORPHA:563
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Jaundice, Skeletal muscle hypertrophy, Macroglossia, Myopathy, Gait disturbance, Constipation, Mu...	ORPHA:2349
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Skeletal muscle atrophy, Elbow contracture, Facial palsy, Restrictive ventilatory defect, Shoulde...	OMIM:606612
Spastic Ataxia 1, Autosomal Dominant	Spastic ataxia, Gait disturbance, Leg muscle stiffness, Dysphagia	OMIM:108600
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f...	OMIM:618823
Juvenile Primary Lateral Sclerosis	Skeletal muscle atrophy, Gait imbalance, Dysphagia, Spastic gait, Muscle weakness	ORPHA:247604
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Progressive external ophthalmoplegia, Skeletal muscle atrophy, Neck flexor weakness, Respiratory ...	ORPHA:329336
Mitochondrial Complex I Deficiency, Nuclear Type 15	Flexion contracture, Myopathy, Neonatal death, Hypertrophic cardiomyopathy, Failure to thrive	OMIM:618237
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Fatigable weakness of distal limb muscles, Ankle weaknes...	ORPHA:98912
Congenital Myopathy 3 With Rigid Spine	Poor head control, Reduced vital capacity, Neck flexor weakness, Facial palsy, Centrally nucleate...	OMIM:602771
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Hepatorenocardiac Degenerative Fibrosis	Portal hypertension, Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, R...	OMIM:619902
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi...	OMIM:300717
Charcot-Marie-Tooth Disease, Axonal, Type 2J	Distal muscle weakness, Recurrent coughing spasms, Distal sensory impairment, Distal amyotrophy, ...	OMIM:607736
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Progressive external ophthalmoplegia, Poor appetite, Respiratory insufficiency due to muscle weak...	ORPHA:352447
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Waddling gait, Broad-based gait, Scapular winging, Neck flexor weakness, Calf muscle pseudohypert...	ORPHA:353
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Pulmonic stenosis	ORPHA:79159
Muscular Dystrophy, Congenital, Megaconial Type	Waddling gait, Facial palsy, Gowers sign, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, I...	OMIM:602541
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Skeletal muscle atrophy, Hand muscle atrophy, Death in childhood, Bulbar pa...	OMIM:211530
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
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Progressive external ophthalmoplegia, Ataxia, Limb-girdle muscle weakness, Dysphagia, Viral infec...	ORPHA:329314
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Progressive external ophthalmoplegia, Skeletal muscle atrophy, Distal muscle weakness, Proximal m...	OMIM:617070
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,...	OMIM:615184
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Short stature, Flexion contracture, Dilated cardiomyopathy, Ragged-red muscle fibers, Left ventri...	OMIM:252011
Autosomal Recessive Spastic Paraplegia Type 54	Foot joint contracture, Tip-toe gait, Gait disturbance, Dysphagia, Spastic gait	ORPHA:320380
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Aortic valve stenosis, Pulmonic stenosis, Po...	OMIM:615382
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Neonatal death, Increased variability in muscle fiber diameter, Hypertrophic cardio...	OMIM:614096
Myasthenic Syndrome, Congenital, 14	Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged...	OMIM:616228
Adult-Onset Distal Myopathy Due To Vcp Mutation	Reduced vital capacity, Distal muscle weakness, Scapular winging, Abnormality of the musculature ...	ORPHA:329478
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Spastic Paraplegia 83, Autosomal Recessive	Unsteady gait, Paresthesia, Dysphagia, Gait ataxia	OMIM:619027
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Atrial Fibrillation, Familial, 10	Right ventricular dilatation, Left ventricular hypertrophy, Left atrial enlargement	OMIM:614022
Familial Progressive Cardiac Conduction Defect	Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia	ORPHA:871
Proximal Spinal Muscular Atrophy	Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac...	ORPHA:70
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Cyanosis, Tachypnea, Cor pulmonale, Respiratory failure, Cough	OMIM:263000
Danon Disease	Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Progressive Familial Heart Block, Type Ia	Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon...	OMIM:113900
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Progressive external ophthalmoplegia, Broad-based gait, Skeletal muscle atrophy, Ataxia, Ophthalm...	OMIM:616479
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Ataxia, Ophthalmoplegia, Increased variability in mu...	OMIM:619473
Myopathy, Distal, 3	Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han...	OMIM:610099
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc...	OMIM:619477
Oculopharyngodistal Myopathy 1	Respiratory distress, Reduced forced vital capacity, Aspiration, Foot dorsiflexor weakness, Ataxi...	OMIM:164310
Congenital Myopathy 18	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e...	OMIM:620246
Vocal Cord And Pharyngeal Distal Myopathy	Bulbar palsy, Distal muscle weakness, Abnormal morphology of musculature of pharynx, Ankle weakne...	ORPHA:600
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Familial Dyskinesia And Facial Myokymia	Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia, Facial myokymia	ORPHA:324588
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Broad-based gait, Bronchiectasis, Right ventricular dilatation, Crohn's disease, Hypertrophic car...	OMIM:619705
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Intestinal pseudo-obstruction, Impaired distal proprioception, Ragged-re...	OMIM:607459
Bethlem Myopathy	Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Gowers sign...	ORPHA:610
Congenital Myopathy 14	Death in infancy, Hip contracture, Apnea, Proximal muscle weakness, Respiratory insufficiency due...	OMIM:618414
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur...	OMIM:620068
Bardet-Biedl Syndrome 2	Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve	OMIM:615981
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Centrally nu...	ORPHA:596
Neuropathy, Ataxia, And Retinitis Pigmentosa	Myopathy, Ataxia, Proximal muscle weakness	OMIM:551500
Duane Anomaly-Myopathy-Scoliosis Syndrome	Myopathy	ORPHA:50817
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Diaphragmatic eventration, Sudden cardiac de...	OMIM:610198
Idiopathic/Heritable Pulmonary Arterial Hypertension	Right ventricular dilatation, Dyspnea, Pulmonary arterial hypertension	ORPHA:422
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers,...	OMIM:613561
Dystonia With Cerebellar Atrophy	Progressive cerebellar ataxia, Torticollis, Dysphagia	OMIM:611694
Cardiomyopathy, Familial Hypertrophic, 28	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en...	OMIM:619402
Coronary Arterial Fistula	Orthopnea, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Abnormal heart morphology, Right ventr...	ORPHA:2041
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Skeletal muscle atrophy, Hip contracture, Ankle flexion contracture, Respir...	ORPHA:1143
Stuve-Wiedemann Syndrome 2	Respiratory distress, Death in adolescence, Stillbirth, Dysphagia, Neonatal death, Pulmonary arte...	OMIM:619751
Hemochromatosis, Type 2A	Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Arr...	OMIM:602390
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox...	OMIM:614302
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Oculopharyngodistal Myopathy 4	Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ...	OMIM:619790
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Skeletal muscle atrophy, Distal muscle weakness, Diaphragmatic paralysis, P...	OMIM:620011
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:607487
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E	Somatic sensory dysfunction, Distal muscle weakness, Proximal muscle weakness, Inability to walk,...	ORPHA:99939
D-2-Hydroxyglutaric Aciduria 2	Cardiomyopathy	OMIM:613657
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Skeletal muscle atrophy, Progressive distal muscular atrophy, Facial palsy, Spinal muscular atrop...	OMIM:159950
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Poor head control, Facial palsy, Ankle flexion contracture, Type 1 muscle fiber atrophy, Feeding ...	OMIM:617519
Mitochondrial Complex I Deficiency, Nuclear Type 14	Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy, Apnea	OMIM:618236
Cardiac Lipidosis, Familial	Congestive heart failure, Cardiomyopathy	OMIM:212080
Myasthenic Syndrome, Congenital, 3A, Slow-Channel	Poor head control, Generalized muscle weakness, Respiratory insufficiency, Dysphagia, Loss of amb...	OMIM:616321
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Respiratory insufficiency due to mu...	OMIM:608931
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Proximal muscle weakness in upper limbs, Skeletal muscle atrophy, Proximal muscle weakness in low...	OMIM:613954
Mitchell Syndrome	Respiratory insufficiency due to muscle weakness, Limb muscle weakness, Difficulty walking, Dysph...	OMIM:618960
Autosomal Recessive Spastic Paraplegia Type 21	Gait disturbance, Lower limb muscle weakness, Difficulty walking, Dysphagia	ORPHA:101001
Dystonia 4, Torsion, Autosomal Dominant	Torticollis, Dysphagia, Gait ataxia	OMIM:128101
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Laryngotracheal Angioma	Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Feeding difficulties, S...	ORPHA:137935
Fazio-Londe Disease	Bulbar palsy, Diaphragmatic weakness, Facial diplegia, Progressive inspiratory stridor, Dysphagia	OMIM:211500
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Skeletal muscle atrophy, Hip contracture, Distal muscle weakness, Interphal...	ORPHA:1145
Congenital Muscular Dystrophy, Fukuyama Type	Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Dilated cardiomyopathy, Flexion...	ORPHA:272
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Flexion contracture, Bradycardia	OMIM:618815
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Facial palsy, Proximal muscle weakness, External ophthalmoplegia, Feedin...	OMIM:255320
Myopathy Due To Myoadenylate Deaminase Deficiency	Skeletal muscle atrophy, Rhabdomyolysis, Myopathy	OMIM:615511
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress, Distal amyotrophy, Ataxia	OMIM:619099
Myasthenic Syndrome, Congenital, 20, Presynaptic	Hypoventilation, Bulbar palsy, Skeletal muscle atrophy, Apnea, Facial palsy, Proximal muscle weak...	OMIM:617143
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Myositis, Scapular winging, Fatiguable weakness of proximal limb muscles...	ORPHA:206569
Amish Nemaline Myopathy	Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina...	ORPHA:98902
Typical Nemaline Myopathy	Waddling gait, Neck flexor weakness, Facial palsy, Fatigable weakness of distal limb muscles, Fat...	ORPHA:171436
Immunodeficiency 9	Death in infancy, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Gow...	OMIM:612782
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Increased variability in muscle fiber diameter, Failure to thrive in infancy, Increased intramyoc...	OMIM:619065
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Somatic sensory dysfunction, Cardiomyopathy, Progressive gait ataxia, Progressive cerebellar atax...	ORPHA:1177
Mitochondrial Complex I Deficiency, Nuclear Type 21	Myopathy, Ragged-red muscle fibers	OMIM:618242
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased variability in muscle fiber diameter, Failure to thrive, Cardiomyopathy	OMIM:613752
Cardiomyopathy, Familial Hypertrophic, 20	Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation, Lef...	OMIM:613876
Cardiomyopathy, Familial Hypertrophic, 21	Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype...	OMIM:614676
Gaucher Disease Type 2	Respiratory distress, Cough, Ophthalmoplegia, Flexion contracture, Dysphagia, Abnormal pattern of...	ORPHA:77260
Miyoshi Muscular Dystrophy 1	Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet...	OMIM:254130
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i...	OMIM:608751
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy, Feeding difficulties, Gastroesophageal reflux, Decreased ...	OMIM:616974
Myopathy, Centronuclear, 5	Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regur...	OMIM:615959
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Gait ataxia, S...	OMIM:258450
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ...	OMIM:310300
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Chylopericardium, Gastroesophageal...	ORPHA:2414
Brugada Syndrome 1	Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso...	OMIM:601144
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Cardiomyopathy, Myopathy, Feeding difficulties	ORPHA:26792
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Myopathy, Hypertrophic cardiomyopathy	ORPHA:1369
Adducted Thumbs Syndrome	Myopathy, Arthrogryposis multiplex congenita, Respiratory insufficiency, Dysphagia	OMIM:201550
Spinocerebellar Ataxia 37	Unsteady gait, Ataxia, Dysphagia	OMIM:615945
Leber Hereditary Optic Neuropathy	Myopathy, Ataxia, Retinal telangiectasia	ORPHA:104
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Loss of ability to walk in early childhood, Respiratory insufficiency due to muscle weakness, Ina...	OMIM:609560
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Neonatal respiratory distress, Spinal muscular atrophy, Flexion contract...	OMIM:616867
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia	ORPHA:1479
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Sudden cardiac death, Left ventricular outflow tract obstruction, Reduced left ventricular endsys...	OMIM:620236
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Muscular Dystrophy, Barnes Type	Myopathy, Muscular dystrophy	OMIM:158800
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Congenital Muscular Dystrophy Without Intellectual Disability	Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co...	ORPHA:370980
Congenital Myopathy 20	Skeletal muscle atrophy, Scapular winging, Failure to thrive, Elbow contracture, Centrally nuclea...	OMIM:620310
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Nasogastric tube feeding in infancy, Upper airway obstruction, Fee...	ORPHA:141152
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C...	OMIM:617072
Brown-Vialetto-Van Laere Syndrome 2	Bulbar palsy, Ataxia, Facial palsy, Aggressive behavior, Respiratory insufficiency, Neck muscle w...	OMIM:614707
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i...	OMIM:613157
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Dyspnea, Respiratory insufficiency, Distal sensory impairment, Cardiomyopathy, Limb muscle weakne...	OMIM:606842
Myopathy, Centronuclear, 2	Waddling gait, Scapular winging, Distal muscle weakness, Facial palsy, Proximal muscle weakness, ...	OMIM:255200
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Central core regions in muscle fibers, Muscular dystrophy	OMIM:159050
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Congestive heart failure, Ragged-red muscle fibers, Dilated cardiomyopathy, Hypertension, Hypertr...	ORPHA:1349
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Rhabdomyolysis, Dilated cardiomyopathy, Short stature, Ankle flexion contracture	OMIM:618120
Tricuspid Atresia	Cyanosis, Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great ar...	ORPHA:1209
Muscular Dystrophy, Becker Type	Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia	OMIM:300376
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly	OMIM:600649
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Emery-Dreifuss Muscular Dystrophy	Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficien...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficien...	ORPHA:98853
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Dilated cardiomyopathy	OMIM:619688
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Skeletal muscle atrophy, Poor head control, Myopathy, Bruising susceptibility, Muscle weakness	ORPHA:300179
Paroxysmal Nonkinesigenic Dyskinesia 1	Paroxysmal choreoathetosis, Torticollis, Dysphagia	OMIM:118800
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Ataxia, Proximal muscle weakness, ...	OMIM:620166
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Poor head control, Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Respi...	ORPHA:486815
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri...	ORPHA:98855
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Progressive distal muscle weakness, Proximal muscle weakness, Fatty replacement of skeletal muscl...	ORPHA:397744
Spinocerebellar Ataxia 14	Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Attention deficit hyperactivity disorder, ...	OMIM:605361
Spastic Paraplegia 85, Autosomal Recessive	Impaired vibratory sensation, Torticollis, Impaired temperature sensation, Impaired proprioceptio...	OMIM:619686
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Hypertension, ...	OMIM:602088
Brugada Syndrome 2	Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr...	OMIM:611777
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Broad-based gait, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetitive mannerisms...	OMIM:617862
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elbow flexi...	OMIM:618138
Mitochondrial Dna Depletion Syndrome 11	Facial palsy, Ragged-red muscle fibers, Dilated cardiomyopathy, Proximal amyotrophy, Generalized ...	OMIM:615084
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy	ORPHA:2229
Dystonia 32	Torticollis, Dysphagia	OMIM:619637
Myotonia Permanens	Dyspnea, Ophthalmoplegia, Asthma, Generalized muscle hypertrophy, Ophthalmoparesis, Skeletal musc...	ORPHA:99735
Idiopathic Achalasia	Wheezing, Malnutrition, Dysphagia, Gastroesophageal reflux, Cough, Recurrent aspiration pneumonia	ORPHA:930
Dk1-Cdg	Short stature, Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Inter...	ORPHA:91131
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P...	OMIM:115200
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Impaired vibration sensation in the lower limbs, Impaired proprioception, Limb at...	ORPHA:251282
Glycogen Storage Disease Iii	Ventricular hypertrophy, Cardiomyopathy, Distal amyotrophy, Myopathy, Muscle weakness	OMIM:232400
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Proximal muscle weakness in upper limbs, Upper limb amyotrophy, Knee flexion contracture, Tip-toe...	ORPHA:496689
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia	OMIM:606703
Myoclonus, Intractable, Neonatal	Apnea, Chorea, Feeding difficulties, Athetosis, Dysphagia, Impaired oral bolus formation, Increas...	OMIM:617235
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation	OMIM:615616
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Respiratory insufficiency, Hypoplastic left heart, Dysphagia, Hypertro...	OMIM:616276
Spinal Muscular Atrophy, X-Linked 2	Multiple joint contractures, Facial palsy, Spinal muscular atrophy, Respiratory insufficiency due...	OMIM:301830
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Hepatomegaly	OMIM:609016
Atrial Septal Defect, Ostium Primum Type	Cyanosis, Left atrial enlargement, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Ai...	ORPHA:99106
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Ataxia, Proximal muscle weakness, Cardiomegaly, Diarrhea, Fatigable weak...	ORPHA:42
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness, Disinhibition, Dysphag...	OMIM:612069
Asbestos Intoxication	Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh...	ORPHA:2302
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Cardiomyopathy, Distal lower limb muscle weakness, Supraventricular arrhythmia, Leg muscle stiffness	ORPHA:320360
Amyotrophic Lateral Sclerosis 8	Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness, Progressive muscle wea...	OMIM:608627
Atrial Septal Defect, Sinus Venosus Type	Dyspnea, Anomalous pulmonary venous return, Right ventricular dilatation, Exertional dyspnea, Pul...	ORPHA:99105
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Impaired vibratory sensation, Ataxia, Unsteady gait, Dysmetria, Gait ataxia, Mitral valve prolaps...	ORPHA:98
Combined Oxidative Phosphorylation Deficiency 31	Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased variability ...	OMIM:617228
Spinocerebellar Ataxia, Autosomal Recessive 26	Distal muscle weakness, Impaired distal proprioception, Unsteady gait, Impaired distal vibration ...	OMIM:617633
Sandhoff Disease, Juvenile Form	Skeletal muscle atrophy, Distal muscle weakness, Ataxia, Limb joint contracture, Proximal muscle ...	ORPHA:309162
Carnitine Deficiency, Systemic Primary	Respiratory distress, Cardiomegaly, Proximal muscle weakness, Diarrhea, Cardiomyopathy, Myopathy,...	OMIM:212140
Cardiomyopathy, Familial Hypertrophic, 7	Wolff-Parkinson-White syndrome, Ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardio...	OMIM:613690
Cardiomyopathy, Familial Hypertrophic, 18	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial...	OMIM:613874
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Left ventric...	OMIM:619167
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn...	ORPHA:75840
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress, Neuromuscular dysphagia, Falls, Axial muscle stiffness	ORPHA:240085
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur...	OMIM:310200
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Centrally nucleated skeletal muscle fibers, Flexion contracture, Incre...	OMIM:618484
Congenital Myopathy 16	Scapular winging, Distal muscle weakness, Proximal muscle weakness, Flexion contracture, Axial mu...	OMIM:618524
Pontocerebellar Hypoplasia, Type 1A	Ataxia, Spinal muscular atrophy, Feeding difficulties in infancy, Respiratory insufficiency, Limb...	OMIM:607596
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
X-Linked Emery-Dreifuss Muscular Dystrophy	Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficien...	ORPHA:98863
Phosphoserine Aminotransferase Deficiency	Death in infancy, Cyanotic episode, Apnea, Feeding difficulties	OMIM:610992
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Skeletal muscle atrophy, Gastrostomy tube feeding in infa...	OMIM:620278
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Right ventricular dilatation	OMIM:618920
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus...	OMIM:620138
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy, Abnormal repetitive mannerisms, Feeding difficulties	OMIM:616341
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Distal muscle weakness, Impaired pain sensation, Impaired temperature sensation, Centrally nuclea...	OMIM:619574
Hypokalemic Periodic Paralysis, Type 2	Myopathy	OMIM:613345
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction	Nasal regurgitation, Facial palsy, Dysphagia	OMIM:617732
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase...	OMIM:617066
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m...	OMIM:609308
Atrial Standstill 1	Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at...	OMIM:108770
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Poor head control, Skeletal muscle atrophy, Ataxia, Proximal muscle...	ORPHA:3208
Mitochondrial Complex I Deficiency, Nuclear Type 11	Myopathy, Hypertrophic cardiomyopathy, Failure to thrive	OMIM:618234
Myasthenic Syndrome, Congenital, 24, Presynaptic	Apnea, Ophthalmoplegia, Respiratory insufficiency, Feeding difficulties, Knee flexion contracture...	OMIM:618198
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,...	ORPHA:85445
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Anorexia, Nonproductive cough, ...	ORPHA:1302
Hyperkalemic Periodic Paralysis	Death in infancy, Death in early adulthood, Skeletal muscle atrophy, Bowel incontinence, Feeding ...	ORPHA:682
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Poor head control, Ataxia, Dilated cardiomyopathy, Tachyp...	OMIM:614299
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric...	OMIM:614954
Isolated Glycerol Kinase Deficiency	Myopathy	ORPHA:408
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Death in infancy, Respiratory insufficiency due to muscle weakness, Inability to walk, Neonatal d...	OMIM:617184
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, A...	ORPHA:99104
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy	OMIM:192600
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Ophthalmoplegia, Ragged-red muscle fibers, Myopathy, Left ventricular hypertrophy, Episodic vomiting	OMIM:540000
Laryngotracheoesophageal Cleft	Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Impaired oropharyngeal swallow ...	ORPHA:2004
Mitochondrial Myopathy And Sideroblastic Anemia	Myopathy, Generalized limb muscle atrophy	ORPHA:2598
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Ullrich Congenital Muscular Dystrophy 2	Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph...	OMIM:616470
Muscular Dystrophy, Limb-Girdle, Type 1H	Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ...	OMIM:613530
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Ventricular ...	OMIM:607598
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Skeletal muscle at...	ORPHA:1876
Giant Axonal Neuropathy 2, Autosomal Dominant	Cardiomyopathy, Distal amyotrophy	OMIM:610100
Cardiomyopathy, Dilated, 2E	Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy, Reduced systolic function	OMIM:619492
Combined Oxidative Phosphorylation Deficiency 17	Postnatal growth retardation, Congestive heart failure, Hypertrophic cardiomyopathy, Intrauterine...	OMIM:615440
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular dilata...	OMIM:612863
Malignant Hyperthermia, Susceptibility To, 2	Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind...	OMIM:154275
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Distal amyotrophy, Distal muscle weakness, Dysphagia, Distal sensory impairment	OMIM:607734
Malonyl-Coa Decarboxylase Deficiency	Dilated cardiomyopathy, Short stature, Left ventricular noncompaction cardiomyopathy	OMIM:248360
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Glycogen Storage Disease X	Myopathy, Rhabdomyolysis	OMIM:261670
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Waddling gait, Respiratory insufficiency due to muscle weakness, Inability to walk, Flexion contr...	ORPHA:2590
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis, Hepatomegaly	OMIM:606445
Denys-Drash Syndrome	Diffuse mesangial sclerosis, True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue...	OMIM:194080
Bronchogenic Cyst	Abnormal pericardium morphology, Pneumonia, Abdominal pain, Abnormal stomach morphology, Dyspnea,...	ORPHA:2357
Spinocerebellar Ataxia With Epilepsy	Acute hepatic failure, Dysmetria, Ophthalmoparesis, Gait ataxia, Progressive cerebellar ataxia, D...	ORPHA:254881
Spastic Paraplegia 7, Autosomal Recessive	Waddling gait, Spastic ataxia, Impaired vibration sensation in the lower limbs, Dysmetria, Gait a...	OMIM:607259
Myopathy, Myofibrillar, 8	Reduced vital capacity, Scapular winging, Proximal muscle weakness, Centrally nucleated skeletal ...	OMIM:617258
Mitochondrial Myopathy, Infantile, Transient	Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen...	OMIM:500009
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Mast Syndrome	Athetosis, Dysdiadochokinesis, Gait disturbance, Dysphagia, Lower limb muscle weakness	OMIM:248900
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Progressive external ophthalmoplegia, Proximal muscle weakness, Progressive muscle weakness, Ragg...	OMIM:609286
Amyotrophic Lateral Sclerosis 21	Bulbar palsy, Distal muscle weakness, Hand muscle weakness, Respiratory insufficiency due to musc...	OMIM:606070
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2	External ophthalmoplegia, Inability to walk, Death in childhood, Dysphagia, Muscle weakness	OMIM:617086
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Ataxia, Dysmetria, Choreoathetosis, Positive Romberg sign, Dysphagia, Loss of ambulation, Weaknes...	OMIM:618088
Congenital Myopathy 19	Skeletal muscle atrophy, Facial hypotonia, Respiratory insufficiency due to muscle weakness, Resp...	OMIM:618578
Congenital Myopathy 15	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc...	OMIM:620161
Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome	Falls, Dysphagia	ORPHA:240112
Combined Oxidative Phosphorylation Defect Type 23	Cyanosis, Feeding difficulties in infancy, Stridor, Respiratory failure, Paroxysmal dyspnea, Left...	ORPHA:444013
X-Linked Immunoneurologic Disorder	Myopathy	ORPHA:2571
Loeffler Endocarditis	Aortic regurgitation, Abnormal morphology of the chordae tendinae of the mitral valve, Pericardit...	ORPHA:75566
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome	Ataxia, Muscle weakness, Dysphagia	ORPHA:1171
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Ataxia, Ophthalmoplegia, Myopathy, Gait disturbance, Increased variability in muscle fiber diameter	OMIM:125250
Atrial Septal Defect, Ostium Secundum Type	Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,...	ORPHA:99103
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Short stature, Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Delaye...	ORPHA:280679
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Achilles tendon contracture, Dilated cardiomyopathy, Abnormal left ventricular function, Macroglo...	OMIM:607155
Congenital Myopathy 21 With Early Respiratory Failure	Dyspnea, Diaphragmatic weakness, EMG: myopathic abnormalities, Respiratory failure, Nocturnal hyp...	OMIM:620326
Primary Pulmonary Hypoplasia	Neonatal respiratory distress, Cyanosis, Apnea, Dextrocardia, Abnormal hemidiaphragm morphology, ...	ORPHA:2257
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Myopathy, Abdominal obesity, Muscular dystrophy, Lower limb muscle weakness	OMIM:615980
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Death in childhood	OMIM:302000
High Altitude Pulmonary Edema	Nausea and vomiting, Orthopnea, Cyanosis, Crackles, Anorexia, Dyspnea, Tachypnea, Hypoxemia, Cough	ORPHA:330012
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Type 1 muscle fiber predo...	OMIM:608340
Glutamate-Cysteine Ligase Deficiency	Myopathy, Jaundice, Ataxia	ORPHA:33574
Sengers Syndrome	Generalized muscle weakness, Respiratory insufficiency, Myopathy, Pulmonary arterial hypertension...	OMIM:212350
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Cyanosis, Ataxia, Chorea, Choreoathetosis	ORPHA:71277
Bundle Branch Block, Familial Isolated Complete Right	Right bundle branch block	OMIM:113950
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at...	ORPHA:98905
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My...	ORPHA:732
Malignant Hyperthermia, Susceptibility To, 3	Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind...	OMIM:154276
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Abdominal wall muscle weakness, Decreased muscle mass, Neck flexor weakn...	ORPHA:263297
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Flexion contracture, Feeding difficulties, Left ventricular hypertrophy, Mu...	OMIM:616733
Spastic Paraplegia Type 7	Somatic sensory dysfunction, Ragged-red muscle fibers, Impaired vibration sensation in the lower ...	ORPHA:99013
Spastic Paraplegia 8, Autosomal Dominant	Lower limb muscle weakness, Impaired vibration sensation in the lower limbs, Spastic gait, Dysphagia	OMIM:603563
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch...	OMIM:613243
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,...	OMIM:616812
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in upper limbs, Scapular winging, Neck flexor weakness, Cardiomegaly, In...	ORPHA:268
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Nausea and vomiting, Skeletal muscle atrophy, Dyspnea, Achilles tendon contracture, Ragged-red mu...	OMIM:615418
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Progressive proximal mu...	ORPHA:368
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Skeletal muscle atrophy, Dilated cardiomyopathy, Esophageal varix, Flexion ...	ORPHA:367
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Skeletal muscle atrophy, Bulbar palsy, Disinhibition, Dysphagia, Muscle weakness	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Skeletal muscle atrophy, Bulbar palsy, Disinhibition, Dysphagia, Muscle weakness	OMIM:616437
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Foot dorsiflexor weakness, Multiple joint contractures, Facial palsy, Bo...	OMIM:617114
Glycogen Storage Disease Ixd	Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn...	OMIM:300559
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr...	OMIM:612124
Riboflavin Transporter Deficiency	Skeletal muscle atrophy, Bulbar palsy, Ataxia, Facial palsy, Aggressive behavior, Respiratory ins...	ORPHA:97229
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio...	OMIM:617047
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Ataxia, Inability to walk, Chorea, Abnormal heart morphology, Respiratory failure, Gastroesophage...	ORPHA:70472
Chiari Malformation Type Ii	Cyanosis, Ataxia, Feeding difficulties, Dysphagia, Limb muscle weakness, Inspiratory stridor	OMIM:207950
Combined Oxidative Phosphorylation Deficiency 20	Progressive external ophthalmoplegia, Ataxia, Respiratory insufficiency, Left ventricular noncomp...	OMIM:615917
Amyotrophic Lateral Sclerosis 20	Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles	OMIM:615426
Seizures, Benign Familial Infantile, 3	Cyanosis, Apnea	OMIM:607745
Muscular Dystrophy, Cardiac Type	Abnormal EKG, Muscular dystrophy, Cardiomyopathy	OMIM:309930
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Distal lower limb amyotrophy, Distal muscle weakness, Hand muscle weakness, Achilles tendon contr...	OMIM:302800
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5	Progressive external ophthalmoplegia, Ataxia, Gait ataxia, Myopathy, Dysphagia	OMIM:613077
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Dilated cardiomyopathy, Reduced systolic function	OMIM:618805
Meckel Syndrome, Type 8	Ambiguous genitalia, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a...	OMIM:620203
Autosomal Spastic Paraplegia Type 18	Hip contracture, Distal muscle weakness, Ankle flexion contracture, Inability to walk, Neck joint...	ORPHA:209951
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Hjv Or Hamp-Related Hemochromatosis	Dilated cardiomyopathy	ORPHA:79230
Feingold Syndrome 2	Postnatal growth retardation, Ventricular septal defect, Short stature	OMIM:614326
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Cardiomyopathy	OMIM:619647
Brugada Syndrome 5	ST segment elevation, Bundle branch block, Ventricular fibrillation	OMIM:612838
Arthrogryposis Multiplex Congenita 6	Neonatal death, Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis m...	OMIM:619334
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Reduced vital capacity, Flexion contracture, Respiratory insufficiency, Axial muscle weakness, Ar...	ORPHA:178148
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Cardiomyopathy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Muscular dy...	OMIM:615352
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy, Pneumonia	OMIM:254120
Marinesco-Sjogren Syndrome	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myopath...	OMIM:248800
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Ankle flexion contracture, Respiratory insufficiency due to muscle weakness, Reduced forced vital...	OMIM:619461
Congenital Myopathy 24	Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopathy, Type 1 muscl...	OMIM:617336
Glycogen Storage Disease Due To Aldolase A Deficiency	Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S...	ORPHA:57
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Telangiectasia of the skin, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Finger ...	OMIM:212112
Striatonigral Degeneration, Childhood-Onset	Steppage gait, Loss of ambulation, Unsteady gait, Dysphagia	OMIM:617054
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Amyotrophic Lateral Sclerosis 18	Skeletal muscle atrophy, Muscle weakness, Dysphagia	OMIM:614808
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Hepatomegaly, Eosinophilia,...	ORPHA:98849
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration, ...	ORPHA:90301
Seizures, Benign Familial Infantile, 1	Cyanosis, Apnea	OMIM:601764
Developmental And Epileptic Encephalopathy 62	Inability to walk, Dysphagia, Gastrostomy tube feeding in infancy	OMIM:617938
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Cyanosis, Cardiomegaly, Pericardial effusion,...	ORPHA:555874
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi...	ORPHA:85451
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur...	OMIM:302060
Arthrogryposis, Distal, Type 7	Arthrogryposis multiplex congenita, Feeding difficulties, Distal arthrogryposis, Dysphagia	OMIM:158300
Mcleod Syndrome	Chorea, Dilated cardiomyopathy, Rhabdomyolysis, Cardiomyopathy, Myopathy, Compulsive behaviors, M...	OMIM:300842
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Bicuspid aortic valve, Short stature, Dilated cardiomyopathy, Renovascular ...	ORPHA:401923
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc...	OMIM:226670
Myopathy With Lactic Acidosis, Hereditary	Skeletal muscle atrophy, Distal muscle weakness, Dyspnea, Rhabdomyolysis, Ophthalmoparesis, Myopa...	OMIM:255125
Autosomal Dominant Optic Atrophy Plus Syndrome	Progressive external ophthalmoplegia, Ataxia, Limb-girdle muscle weakness, Cardiomyopathy, Myopathy	ORPHA:1215
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy, Myofiber disarray, Feeding difficulties, Myopathy, Increa...	OMIM:604377
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Ataxia, Ophthalmoplegia, Athetosis, Distal amyotrophy, Vomiting, Dysphagia, Loss of ambulation, M...	OMIM:271245
Dihydropteridine Reductase Deficiency	Dysphagia	ORPHA:226
Hsd10 Disease, Infantile Type	Restlessness, Poor head control, Cyanosis, Cardiomegaly, Gastrointestinal dysmotility, Choreoathe...	ORPHA:391428
Spastic Ataxia 5, Autosomal Recessive	Spastic ataxia, Ataxia, Dysmetria, Dysdiadochokinesis, Distal amyotrophy, Increased intramyocellu...	OMIM:614487
Pontocerebellar Hypoplasia, Type 4	Death in infancy, Feeding difficulties, Respiratory failure, Congenital contracture, Dysphagia	OMIM:225753
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Flexion contracture, Muscle...	OMIM:254090
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Facial palsy, Achilles tendon contracture, Elbow flexion contracture, Skeletal muscle hypertrophy...	OMIM:608840
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Broad-based gait, Neonatal respiratory distress, Ventricular septal defect,...	OMIM:610978
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Apnea, Meconium ileus, Fatigable weakness of skeletal muscles, Ophthalmoplegia, Respira...	OMIM:617239
Myofibrillar Myopathy 10	Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Left ventricular ...	OMIM:619040
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5	Progressive external ophthalmoplegia, Broad-based gait, Ataxia, Neck flexor weakness, Proximal mu...	OMIM:618098
Christianson Syndrome	Death in early adulthood, Decreased muscle mass, Feeding difficulties in infancy, Ophthalmoplegia...	ORPHA:85278
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot...	OMIM:620300
Congenital Tracheomalacia	Apnea, Cardiomegaly, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Atrial septal defect,...	ORPHA:95430
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A	Ataxia, Dysphagia	OMIM:613925
Spinocerebellar Ataxia 1	Impaired vibratory sensation, Skeletal muscle atrophy, Bulbar palsy, Distal muscle weakness, Impa...	OMIM:164400
Spastic Paraplegia 11, Autosomal Recessive	Skeletal muscle atrophy, Ataxia, Thenar muscle atrophy, Impaired distal vibration sensation, Impa...	OMIM:604360
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Growth delay, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:231530
Congenital Diaphragmatic Hernia	Respiratory distress, Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia/Hypoplasia...	ORPHA:2140
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Inability to walk, Joint contracture	OMIM:617977
Glycogen Storage Disease Xv	ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver...	OMIM:613507
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Miscarriage, Centrally nucleated skeletal muscle fibers,...	ORPHA:169189
Scleromyxedema	Abnormality of the gastrointestinal tract, Distal muscle weakness, Aged leonine appearance, Proxi...	ORPHA:167635
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Cyanosis, Ventricular septal defect, Abnormal pulmonary ...	ORPHA:860
Amyotrophic Lateral Sclerosis 1	Skeletal muscle atrophy, Pseudobulbar paralysis, Muscle weakness, Dysphagia	OMIM:105400
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Ataxia, Unsteady gait, Limb ataxia, Dysphagia, Gait disturbance, Truncal ataxia	ORPHA:284271
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Loss of ambulation, Respiratory failure, Muscle weakness, Dysphagia	OMIM:613435
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Splenomegaly, Congestive heart failure, Inability to walk, Enlarged ki...	OMIM:617303
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Nemaline bodies, Flexion contracture, Myopathy, Cardiomyopathy	OMIM:616549
Congenital Fiber-Type Disproportion Myopathy	Poor appetite, Progressive muscle weakness, Nasogastric tube feeding in infancy, Flexion contract...	ORPHA:2020
Chronic Pneumonitis Of Infancy	Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea...	ORPHA:91359
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Chronic kidney disease...	ORPHA:730
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Cardiomegaly, Feeding difficulties in infancy, Gowers sign, Flexion contrac...	ORPHA:365
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrauterine growth...	OMIM:620135
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Diarrhea, Chronic pulmonary obstru...	ORPHA:411703
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Short stature, Cerebral hemorrhage, Postnatal growth retardation, Dilated cardiomyopathy, Abnorma...	OMIM:300845
Hypophosphatasia, Childhood	Myopathy	OMIM:241510
King-Denborough Syndrome	Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predom...	OMIM:619542
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Skeletal muscle atrophy, Respiratory insufficiency due to...	OMIM:615512
Hypokalemic Periodic Paralysis, Type 1	Episodic flaccid weakness, Myopathy, Muscle weakness	OMIM:170400
Criss-Cross Heart	Cyanosis, Ventricular septal defect, Tricuspid stenosis, Respiratory insufficiency, Feeding diffi...	ORPHA:1461
Pleural Mesothelioma	Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Dysphagia, Cough, Pleural ...	ORPHA:50251
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly, Flexion contracture, Cardiomyopathy, Intrauterine growth retardation,...	OMIM:608540
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven...	ORPHA:3092
Neonatal Lupus Erythematosus	Prolonged QT interval, Hepatomegaly, Heart block, Splenomegaly, Dilated cardiomyopathy, Atriovent...	ORPHA:398124
Gm1-Gangliosidosis, Type I	Hepatomegaly, Severe short stature, Abnormal heart valve morphology, Congestive heart failure, Sp...	OMIM:230500
Lethal Congenital Contracture Syndrome 7	Skeletal muscle atrophy, Oral-pharyngeal dysphagia, Knee flexion contracture, Facial diplegia, Di...	OMIM:616286
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Distal muscle weakness, Ataxia, Dysmetria, Abnormal mitochondria in muscle tissue, Dysdiadochokin...	ORPHA:313772
Arterial Calcification, Generalized, Of Infancy, 1	Short stature, Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopa...	OMIM:208000
Proximal Myopathy With Extrapyramidal Signs	Increased variability in muscle fiber diameter, Central core regions in muscle fibers, Cardiomyop...	ORPHA:401768
Spinocerebellar Ataxia, Autosomal Recessive 27	Spastic ataxia, Torticollis, Aggressive behavior, Gait ataxia, Lower limb hypertonia, Gait distur...	OMIM:618369
Spinocerebellar Ataxia, X-Linked 1	Unsteady gait, Ataxia, Dysphagia	OMIM:302500
Spinocerebellar Ataxia Type 1	Skeletal muscle atrophy, Chorea, Impaired proprioception, Dysmetria, Ophthalmoparesis, Abnormalit...	ORPHA:98755
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Skeletal muscle atrophy, Respiratory insufficiency, Dysphagia	OMIM:617892
Dystonia 12	Hypomimic face, Torticollis, Unsteady gait, Dysphagia	OMIM:128235
Isolated Atp Synthase Deficiency	Hepatomegaly, Short stature, Dilated cardiomyopathy, Arrhythmia, Hypertrophic cardiomyopathy	ORPHA:254913
Phosphoglycerate Kinase 1 Deficiency	Myopathy, Rhabdomyolysis, Ataxia, Muscle weakness	OMIM:300653
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end...	OMIM:620152
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c...	ORPHA:536516
Immunodeficiency 60 And Autoimmunity	Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count	OMIM:618394
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Neonatal respiratory distress, Spinal muscular atrophy, Secundum atrial septal defect, Flexion co...	OMIM:616866
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Proteinuria, Cardiac ...	ORPHA:439232
Spinocerebellar Ataxia, Autosomal Recessive 31	Ataxia, External ophthalmoplegia, Bruxism, Dysphagia, Feeding difficulties, Choreoathetosis, Deat...	OMIM:619422
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Feeding difficulties, Cardiomyopathy, Respiratory failure, Stillbirth, Myopathy...	OMIM:614922
Mitochondrial Neurogastrointestinal Encephalomyopathy	Abnormality of the gastrointestinal tract, Decreased muscle mass, Distal muscle weakness, Small i...	ORPHA:298
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Tracheoesophageal fistula, Dysphagia, St...	ORPHA:142
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Death in infancy, Centrally nucleated skeletal muscle fibers, Feeding diffi...	OMIM:300219
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,...	OMIM:613873
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death, Congenital diaphragmatic hernia	OMIM:226735
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Cardi...	ORPHA:308552
Acetazolamide-Responsive Myotonia	Ophthalmoplegia, Ophthalmoparesis, Skeletal muscle hypertrophy, Gait disturbance, Dysphagia	ORPHA:99736
Severe Canavan Disease	Poor head control, Oral-pharyngeal dysphagia, Gastrostomy tube feeding in infancy, Inability to w...	ORPHA:314911
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy	Chorea, Gait disturbance, Dysphagia	OMIM:607674
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Central apnea, Skeletal muscle atrophy, Ataxia, Aggressive behavior, Gait apraxia, Limb ataxia, D...	OMIM:615157
Congenital Laryngeal Web	Respiratory distress, Stridor, Abnormal cardiac septum morphology	ORPHA:2374
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Skeletal muscle atrophy, Achalasia, Acrocyanosis	ORPHA:2400
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Tachycardia, Short stature, Ventricular septal defect, Sudden cardiac death, Cardio...	OMIM:614921
Cap Myopathy	Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Mitral valve prolapse, Gen...	ORPHA:171881
Dystonia 16	Torticollis, Unsteady gait, Dysphagia	ORPHA:210571
Spinocerebellar Ataxia, Autosomal Recessive 32	Torticollis, Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Dysphagia, Hypomimic face	OMIM:619862
Multifocal Atrial Tachycardia	Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect...	ORPHA:3282
Combined Oxidative Phosphorylation Deficiency 7	Skeletal muscle atrophy, Ataxia, External ophthalmoplegia, Ophthalmoplegia, Distal sensory impair...	OMIM:613559
Mitochondrial Complex I Deficiency, Nuclear Type 10	Broad-based gait, Ataxia, Apnea, Central hypoventilation, External ophthalmoplegia, Dysmetria, Fe...	OMIM:618233
Chronic Thromboembolic Pulmonary Hypertension	Reduced vital capacity, Pulmonary embolism, Increased pulmonary vascular resistance, Right ventri...	ORPHA:70591
Mitochondrial Trifunctional Protein Deficiency	Progressive distal muscle weakness, Feeding difficulties in infancy, Generalized muscle weakness,...	ORPHA:746
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse	OMIM:145350
Ataxia-Telangiectasia-Like Disorder 2	Conjunctival telangiectasia, Ataxia, Progeroid facial appearance, Congenital diaphragmatic hernia...	OMIM:615919
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype...	ORPHA:1345
Acquired Partial Lipodystrophy	Myopathy	ORPHA:79087
Familial Infantile Bilateral Striatal Necrosis	Ataxia, Gait ataxia, Choreoathetosis, Upper limb muscle weakness, Gait disturbance, Gastroesophag...	ORPHA:225154
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory...	OMIM:265120
Spinocerebellar Ataxia Type 11	Progressive cerebellar ataxia, Gait imbalance, Difficulty walking, Dysphagia	ORPHA:98767
Laryngeal Abductor Paralysis	Stridor, Cyanosis, Dysphagia	OMIM:150260
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Waddling gait, Myopathy, Muscle weakness	ORPHA:166002
Pontocerebellar Hypoplasia, Type 11	Skeletal muscle atrophy, Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Self-injurious...	OMIM:617695
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Dilated cardiomyopathy, Ventricular tachycardia, Syncope	OMIM:615821
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hyperactivity, Ataxia, Gait ataxia, Myopathy, Respiratory fa...	ORPHA:363400
Primary Lateral Sclerosis, Adult, 1	Spastic gait, Dysphagia	OMIM:611637
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Increased variability in muscle fiber diameter	OMIM:617915
Combined Oxidative Phosphorylation Deficiency 50	Poor head control, Dysphagia	OMIM:619025
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif...	OMIM:610921
Juvenile Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Distal muscle weakness, Ataxia, Neck flexor weakness, Proximal muscle we...	ORPHA:300605
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Splenomegaly, Monocyto...	OMIM:614470
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el...	OMIM:261740
Postpoliomyelitis Syndrome	Hypoventilation, Skeletal muscle atrophy, Respiratory insufficiency, Dysphagia, Muscle weakness	ORPHA:2942
Spastic Paralysis, Infantile-Onset Ascending	Achilles tendon contracture, Muscle weakness, Dysphagia	OMIM:607225
Behr Syndrome	Ataxia, Achilles tendon contracture, Unsteady gait, Dysmetria, Dysphagia, Adductor longus contrac...	OMIM:210000
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Hyperactivity, Impulsivity, Impaired pain sensation, Aggressive behavior, Inability to walk, Chor...	ORPHA:500180
Autosomal Dominant Progressive External Ophthalmoplegia	Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Gastroesophageal reflux, Ataxi...	ORPHA:254892
Neurofibromatosis-Noonan Syndrome	Hypertrophic cardiomyopathy, Abdominal wall muscle weakness, Pulmonic stenosis, Dysphagia	ORPHA:638
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Hepatomegaly, Tachycardia, Exercise-induced rhabdomyolysis, Ventricular se...	ORPHA:26793
Attrv30M Amyloidosis	Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly	ORPHA:85447
Autosomal Dominant Striatal Neurodegeneration	Dysdiadochokinesis, Gait disturbance, Dysphagia	ORPHA:228169
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia	Impaired vibratory sensation, Dysphagia, Sensory ataxia, Gait ataxia	OMIM:620221
Primary Lateral Sclerosis, Juvenile	Pseudobulbar paralysis, Spasticity of facial muscles, Dysphagia, Loss of ambulation, Spastic gait	OMIM:606353
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Ataxia, External ophthalmoplegia, Flexion contracture, Feeding difficulties, Cardiomyopathy, Myop...	OMIM:201470
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Complete Atrioventricular Septal Defect	Cyanosis, Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal defect...	ORPHA:1329
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Rhabdomyolysis, Episodic abdominal pain, Cardiomyopathy, Myopathy, Hepat...	ORPHA:228305
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Calf muscle hypertrophy, Bulbar palsy, Limb muscle weakness, Dysphagia	OMIM:313200
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Total ophthalmoplegia, Progressive external ophthalmoplegia, Skeletal muscle atrophy, Neck flexor...	OMIM:157640
Mitochondrial Trifunctional Protein Deficiency 1	Generalized muscle weakness, Dilated cardiomyopathy, Rhabdomyolysis, Respiratory insufficiency, F...	OMIM:609015
Alg9-Cdg	Villous atrophy, Torticollis, Ventricular septal defect, Hypoplasia of the musculature, Pericardi...	ORPHA:79328
Cardiomyopathy, Familial Hypertrophic, 2	Atrial fibrillation, Angina pectoris, Right bundle branch block, Reduced left ventricular ejectio...	OMIM:115195
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, External ophthalmoplegia, Diarrhea, Gait ataxia, Feeding difficulties, Vomi...	OMIM:612075
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis, Ataxia, Apnea, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting, G...	OMIM:619580
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Nausea and vomiting, Anorexia, Abdominal pain, Feeding difficulties, Choreo...	ORPHA:79312
Carey-Fineman-Ziter Syndrome 1	Skeletal muscle atrophy, Distal muscle weakness, Facial palsy, Hypoplasia of the musculature, Pro...	OMIM:254940
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Poor head control, Scapular winging, Proximal muscle weakness, Inability...	ORPHA:26791
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Acyl-Coa Dehydrogenase 9 Deficiency	Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, EM...	ORPHA:99901
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral pneumonia	OMIM:619773
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Short stature, Congestive heart failure, Dilated cardiomyopathy, Heart murm...	ORPHA:2326
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Ataxia, Respiratory insufficiency due to muscle weakness, Ophthalmoparesis,...	OMIM:220110
Autosomal Dominant Optic Atrophy, Classic Form	Skeletal muscle atrophy, Scapular winging, Ataxia, Ophthalmoplegia, Feeding difficulties, Myopath...	ORPHA:98673
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Waddling gait, Distal muscle weakness, Proximal muscle weakness, Fatty replacement of skeletal mu...	ORPHA:52430
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Asplenia, Aortic valve stenosis, Pulmonic stenosis, Hypertrophic cardiomyopathy, Cy...	OMIM:615415
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2	Right bundle branch block	OMIM:613158
Familial Isolated Restrictive Cardiomyopathy	Hepatomegaly, Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, Supraventric...	ORPHA:75249
Mitochondrial Complex I Deficiency, Nuclear Type 20	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:611126
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Abdominal pain, Nonproductive cou...	ORPHA:454836
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Sudden episodic apnea, Rhabdomyolysis, Respiratory insufficiency, Cardiomyopathy, Hepat...	ORPHA:159
Striatonigral Degeneration, Infantile	Choreoathetosis, Dysphagia	OMIM:271930
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Dysesthesia, Abnormal tendon morpholo...	ORPHA:85446
Severe Congenital Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Flexion contracture, Axial muscle weaknes...	ORPHA:171430
Congenital Fibrinogen Deficiency	Cyanosis, Abdominal pain, Left ventricular hypertrophy, Volvulus, Bruising susceptibility, Subcut...	ORPHA:335
Carcinoid Syndrome	Nausea and vomiting, Asthma, Lack of bowel sounds, Episodic abdominal pain, Protracted diarrhea, ...	ORPHA:100093
Rapid-Onset Dystonia-Parkinsonism	Hypomimic face, Torticollis, Dysphagia, Gait ataxia	ORPHA:71517
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Diaphragmatic eventration, Muscular ventricular septal defect, Dilated car...	ORPHA:66634
Frontotemporal Dementia With Motor Neuron Disease	Bulbar palsy, Distal muscle weakness, Proximal muscle weakness, Progressive cerebellar ataxia, Di...	ORPHA:275872
Isolated Right Ventricular Hypoplasia	Cyanosis, Cardiomegaly, Dyspnea, Muscular ventricular septal defect, Hypoxemia, Atrial septal def...	ORPHA:439
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Nausea and vomiting, Gastrointestinal hemorrhage, Poor appetite, Abnormal large intestine morphol...	ORPHA:2198
Madras Motor Neuron Disease	Bulbar palsy, Distal muscle weakness, Facial palsy, Distal amyotrophy, Dysphagia	ORPHA:137867
Spinocerebellar Ataxia 7	Chorea, Dysmetria, Progressive cerebellar ataxia, Supranuclear ophthalmoplegia, Dysphagia	OMIM:164500
Malaria	Respiratory distress, Gait imbalance, Nausea and vomiting	ORPHA:673
Galloway-Mowat Syndrome 7	Ventricular septal defect, Dilated cardiomyopathy, Short stature	OMIM:618348
Microphthalmia, Syndromic 12	Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Hypoplastic l...	OMIM:615524
Acute Interstitial Pneumonia	Cyanosis, Crackles, Pericardial effusion, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis...	ORPHA:79126
Congenital Heart Block	Cyanosis, Crackles, Pericardial effusion, Feeding difficulties in infancy, Endocardial fibroelast...	ORPHA:60041
Eosinophilic Granulomatosis With Polyangiitis	Nausea and vomiting, Intestinal obstruction, Sinusitis, Cutis marmorata, Abnormal pericardium mor...	ORPHA:183
Choreoacanthocytosis	Skeletal muscle atrophy, Self-mutilation of tongue and lips due to involuntary movements, Aggress...	OMIM:200150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Facial palsy, Flexion contracture, Abnormal left ventricular function, Cardiomyopathy, Macrogloss...	OMIM:613155
Friedreich Ataxia	Hand muscle atrophy, Inability to walk, Chorea, Impaired proprioception, Dysmetria, Gait ataxia, ...	ORPHA:95
Poliomyelitis	Respiratory failure requiring assisted ventilation, Bulbar palsy, Skeletal muscle atrophy, Anorex...	ORPHA:2912
Andersen-Tawil Syndrome	Prolonged QT interval, Short stature, Bidirectional ventricular ectopy, Polymorphic ventricular t...	ORPHA:37553
Leber Optic Atrophy And Dystonia	Athetosis, Skeletal muscle atrophy, Dysphagia	OMIM:500001
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Death in infancy, Neonatal respiratory distress, Feeding difficulties, Cong...	OMIM:615042
Spinocerebellar Ataxia 36	Skeletal muscle atrophy, Ataxia, Limb ataxia, Gait ataxia, Dysphagia, Truncal ataxia, Muscle weak...	OMIM:614153
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Hepatomegaly, Renal insufficiency, Long-chain dicarboxylic...	OMIM:608836
Neutral Lipid Storage Myopathy	Progressive distal muscle weakness, Hand muscle weakness, Fatty replacement of skeletal muscle, G...	ORPHA:98908
Combined Oxidative Phosphorylation Defect Type 7	Skeletal muscle atrophy, Bulbar palsy, Ataxia, Oral-pharyngeal dysphagia, Inability to walk, Opht...	ORPHA:254930
Mitochondrial Complex I Deficiency, Nuclear Type 26	Respiratory insufficiency, Choreoathetosis, Distal amyotrophy, Dysphagia, Limb hypertonia	OMIM:618247
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov...	OMIM:619343
Limited Cutaneous Systemic Sclerosis	Nausea and vomiting, Telangiectasia of the skin, Foot joint contracture, Gastroesophageal reflux,...	ORPHA:220402
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Cyanosis, Respiratory insufficiency	OMIM:610773
Spinocerebellar Ataxia 19	Truncal ataxia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Dysphagia	OMIM:607346
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency	Facial palsy, Respiratory insufficiency, Feeding difficulties, Dysphagia, Weakness of facial musc...	OMIM:616323
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome	Skeletal muscle atrophy, Aggressive behavior, Feeding difficulties, Myopathy, Gait disturbance	ORPHA:85329
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Proteinuria, Splenomegaly, Nephrolithiasis, Hypertension, Foca...	OMIM:232220
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Renal insufficiency, Pancreatic fibrosis, Portal hypertension, Asplenia, Splenomega...	OMIM:208540
Myotonic Dystrophy 1	Respiratory distress, Feeding difficulties in infancy, Facial diplegia, Dysphagia, Obsessive-comp...	OMIM:160900
Paramyotonia Congenita Of Von Eulenburg	Facial muscle hypertrophy, Cold paresis, Feeding difficulties, Dysphagia, EMG: myopathic abnormal...	ORPHA:684
Autosomal Recessive Spastic Paraplegia Type 5A	Impaired vibratory sensation, Lower limb amyotrophy, Limb ataxia, Dysphagia, Upper limb muscle we...	ORPHA:100986
Pontocerebellar Hypoplasia Type 2	Apnea, Oral-pharyngeal dysphagia, Feeding difficulties, Choreoathetosis, Viral infection-induced ...	ORPHA:2524
Choanal Atresia	Respiratory distress, Cyanosis, Upper airway obstruction, Feeding difficulties, Choking episodes,...	ORPHA:137914
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal death, Cardiomyopathy, Pulmonary arterial hypertension, Intrauterine growth retardation	OMIM:619003
Adrenomyodystrophy	Myopathy, Failure to thrive	ORPHA:977
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:1832
Atypical Pantothenate Kinase-Associated Neurodegeneration	Impulsivity, Chorea, Gait disturbance, Compulsive behaviors, Dysphagia, Violent behavior	ORPHA:216873
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Short stature, Splenomegaly, Cardiomyopathy	ORPHA:93476
Snakebite Envenomation	Epistaxis, Angioedema, Erythema, Neuromuscular dysphagia, Diarrhea, Rhabdomyolysis, Respiratory f...	ORPHA:449285
Recessive Mitochondrial Ataxia Syndrome	Impaired vibratory sensation, Ataxia, Ophthalmoplegia, Dysmetria, Gait disturbance, Positive Romb...	ORPHA:94125
Hereditary Methemoglobinemia	Athetosis, Cyanosis, Exertional dyspnea	ORPHA:621
Pyruvate Dehydrogenase Phosphatase Deficiency	Feeding difficulties, Dysphagia, Gait ataxia	OMIM:608782
Myotonia Congenita, Autosomal Recessive	Skeletal muscle hypertrophy, Muscle hypertrophy of the lower extremities, Muscle weakness, Dysphagia	OMIM:255700
Spastic Paraplegia 20, Autosomal Recessive	Flexion contracture, Dysmetria, Chronic constipation, Distal amyotrophy, Difficulty walking, Dysp...	OMIM:275900
Hernia, Anterior Diaphragmatic	Neonatal death, Congenital diaphragmatic hernia	OMIM:306950
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Intestinal pseudo-obstruction, Intestinal perforation, Gastrointestinal dysmotility, Hyperactive ...	OMIM:603041
Pontocerebellar Hypoplasia, Type 1D	Poor head control, Multiple joint contractures, Oral-pharyngeal dysphagia, Generalized muscle wea...	OMIM:618065
Spinocerebellar Ataxia 17	Broad-based gait, Ataxia, Aggressive behavior, Chorea, Limb ataxia, Dysmetria, Gait ataxia, Posit...	OMIM:607136
Folinic Acid-Responsive Seizures	Respiratory distress, Broad-based gait, Ataxia, Apnea, Abdominal distention, Chorea, Difficulty w...	ORPHA:79097
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Arts Syndrome	Death in infancy, Ataxia, Progressive muscle weakness, Dysphagia	OMIM:301835
Acquired Methemoglobinemia	Respiratory distress, Cyanosis, Abdominal pain, Dyspnea, Hypoxemia, Vomiting	ORPHA:464453
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Restrictive cardiomyopathy, Pulmonary i...	OMIM:619433
Primary Dystonia, Dyt4 Type	Respiratory distress, Torticollis, Dysdiadochokinesis, Gait disturbance, Dysphagia	ORPHA:98805
Amyloidosis, Finnish Type	Cardiomyopathy, Cardiac amyloidosis	OMIM:105120
Amyotrophic Lateral Sclerosis 2, Juvenile	Hand muscle atrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Distal muscle weaknes...	OMIM:205100
Duchenne Muscular Dystrophy	Calf muscle hypertrophy, Cardiomyopathy, Flexion contracture, Skeletal muscle atrophy	ORPHA:98896
Dystonia 16	Gait disturbance, Retrocollis, Dysphagia	OMIM:612067
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Skeletal muscle atrophy, Dilated cardiomyopathy, Flexion contracture, Myocardial fibrosis, Calf m...	OMIM:253800
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Congestive heart failure, Cardiomegaly	OMIM:300886
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myopathy, Rhabdomyolysis, Ataxia, Muscle weakness	ORPHA:713
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Hy...	ORPHA:264675
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Ophthalmoplegia, Ophthalmoparesis, Fatigable weakness, Myopathy, Muscle flaccidity, Oculomotor ne...	ORPHA:257
Combined Oxidative Phosphorylation Deficiency 24	Skeletal muscle atrophy, Proximal muscle weakness, Ragged-red muscle fibers, Feeding difficulties...	OMIM:616239
Intestinal Botulism	Nausea and vomiting, Death in infancy, Respiratory insufficiency due to muscle weakness, Dyspnea,...	ORPHA:178481
Chanarin-Dorfman Syndrome	Myopathy, Ataxia, Muscle weakness	OMIM:275630
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Increased variability in muscle fiber diameter, Flexion contracture, Failure to thrive in infancy	OMIM:619026
Esophageal Atresia	Respiratory distress, Feeding difficulties in infancy, Gastrointestinal dysmotility, Anorectal an...	ORPHA:1199
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Poor head control, Feeding difficulties, Stridor, Gastroesophageal reflux, ...	OMIM:615595
Marinesco-Sjögren Syndrome	Skeletal muscle atrophy, Ataxia, Myopathy, Muscular dystrophy, Muscle flaccidity, Aplasia/Hypopla...	ORPHA:559
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red...	OMIM:610913
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Loss of ambulation, Dysphagia, Muscle weakness, Gait ataxia	OMIM:249900
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Dilated cardiomyopathy	ORPHA:70595
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m...	ORPHA:615
Propionic Acidemia	Cardiomyopathy, Arrhythmia, Hepatomegaly	ORPHA:35
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress, Feeding difficulties, Dysphagia, Atrial septal defect, Patent foramen ovale	ORPHA:89844
Wolfram Syndrome	Central apnea, Gastrointestinal hemorrhage, Ataxia, Malabsorption, Feeding difficulties in infanc...	ORPHA:3463
Alternating Hemiplegia Of Childhood	Respiratory distress, Abnormality of the gastrointestinal tract, Ataxia, Apnea, Anorexia, Oral-ph...	ORPHA:2131
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypertension, Macroscopic hematuria, Episo...	ORPHA:251004
Myasthenia Gravis	Bulbar palsy, Myositis, Dyspnea, Ophthalmoparesis, Paresthesia, Dysphagia, Acrocyanosis, Muscle w...	ORPHA:589
Double Outlet Right Ventricle	Cyanosis, Ventricular septal defect, Intestinal malrotation, Tachypnea, Double outlet right ventr...	ORPHA:3426
Hsd10 Disease	Ataxia, Nasogastric tube feeding in infancy, Gastrointestinal dysmotility, Choreoathetosis, Gait ...	ORPHA:391417
Laryngeal Neuroendocrine Tumor	Oral-pharyngeal dysphagia, Anorexia, Exertional dyspnea	ORPHA:100083
Heterotaxy, Visceral, 7, Autosomal	Cyanosis, Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common at...	OMIM:616749
Juvenile Neuronal Ceroid Lipofuscinosis	Apnea, Episodic tachypnea, Dysphagia, Abnormal heart morphology, Aspiration pneumonia, Tube feedi...	ORPHA:79264
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Congestive heart failure, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:605676
Neutrophilic Dermatosis, Acute Febrile	Small vessel vasculitis, Dilated cardiomyopathy	OMIM:608068
Benign Familial Infantile Epilepsy	Cyanosis, Apnea	ORPHA:306
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Tachycardia, Tricuspid regurgitation, Proteinuria, Heparan sulfate excretion in urine, Congestive...	ORPHA:505248
Episodic Ataxia Type 1	Respiratory distress, Choreoathetosis, Calf muscle hypertrophy, Tip-toe gait, Nausea	ORPHA:37612
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Unsteady gait, Neuromuscular dysphagia, Falls, Gait imbalance, Loss o...	ORPHA:240094
Cardiomyopathy, Familial Restrictive, 3	Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ...	OMIM:612422
Neurodevelopmental Disorder With Involuntary Movements	Poor head control, Chorea, Athetosis, Self-injurious behavior, Dysphagia	OMIM:617493
Pulmonary Alveolar Proteinosis, Acquired	Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co...	OMIM:610910
Xq28 (MECP2) duplication	Feeding difficulties in infancy, Inability to walk, Dysphagia, Gait ataxia, Gastroesophageal refl...	DECIPHER:45
Neurodegeneration With Brain Iron Accumulation 7	Loss of ambulation, Ataxia, Dysmetria, Dysphagia	OMIM:617916
Mitochondrial Complex I Deficiency, Nuclear Type 5	Ataxia, Apnea, Ophthalmoplegia, Respiratory insufficiency, Vomiting, Dysphagia, Episodic vomiting	OMIM:618226
H Syndrome	Abnormality of the kidney, Microcytic anemia, Abnormal cardiovascular system physiology, Hepatosp...	ORPHA:168569
Mitochondrial Complex I Deficiency, Nuclear Type 1	Death in infancy, Poor head control, Cyanosis, Ataxia, Apnea, Skeletal muscle atrophy, Feeding di...	OMIM:252010
Toxin-Mediated Infectious Botulism	Respiratory insufficiency due to muscle weakness, Dyspnea, Diaphragmatic paralysis, Constipation,...	ORPHA:230800
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Skeletal muscle atrophy, Congestive heart failure, Splenomegaly, Dilated cardiomyop...	OMIM:615895
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Inability to walk, Flexion ...	ORPHA:258
Axial Osteomalacia	Myopathy	OMIM:109130
Restrictive Dermopathy 2	Respiratory distress, Cyanosis, Rectal prolapse, Feeding difficulties, Gastroesophageal reflux	OMIM:619793
Huntington Disease	Oral-pharyngeal dysphagia, Aggressive behavior, Inability to walk, Chorea, Generalized muscle wea...	ORPHA:399
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Sinusitis, Dextrocardia, Situs inversus totalis, Bronchiectasis, Immotile c...	OMIM:606763
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress, Somatic sensory dysfunction, Dysphagia	ORPHA:240103
Intellectual Disability, Birk-Barel Type	Hyperactivity, Foot joint contracture, Spinal muscular atrophy, Fatigable weakness of skeletal mu...	ORPHA:166108
Infant Acute Respiratory Distress Syndrome	Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:70587
Spinocerebellar Ataxia 48	Ataxia, Chorea, Dysmetria, Gait ataxia, Dysphagia	OMIM:618093
Developmental And Epileptic Encephalopathy 1	Choreoathetosis, Dyspnea, Poor head control, Dysphagia	OMIM:308350
Dystonia 31	Difficulty walking, Dysphagia	OMIM:619565
Cystinosis	Malabsorption, Myopathy, Gait disturbance, Vomiting, Polydipsia, Abnormal repetitive mannerisms, ...	ORPHA:213
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Ataxia, Dysmetria, Gait ataxia, Dysphagia, Truncal ataxia, Episodic ataxia, Muscle weakness	OMIM:601338
Tonne-Kalscheuer Syndrome	Broad-based gait, Congenital diaphragmatic hernia, Aggressive behavior, Feeding difficulties, Abn...	OMIM:300978
Moebius Syndrome	Respiratory distress, Feeding difficulties in infancy, Facial diplegia, Dysdiadochokinesis, Conge...	OMIM:157900
Antisynthetase Syndrome	Myositis, Telangiectasia of the skin, Myocarditis, Xerostomia, Respiratory insufficiency, Dysphag...	ORPHA:81
Infantile Neuronal Ceroid Lipofuscinosis	Poor head control, Ataxia, Chorea, Unsteady gait, Dysmetria, Dysphagia	ORPHA:79263
Pulmonary Hypertension, Primary, 4	Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs...	OMIM:615344
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ...	OMIM:619051
Overlap Myositis	Proximal muscle weakness in upper limbs, Proximal muscle weakness, Perifascicular muscle fiber at...	ORPHA:206572
Cln3 Disease	Ataxia, Aggressive behavior, Shuffling gait, Dysphagia, Left ventricular hypertrophy, Loss of amb...	ORPHA:228346
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Ataxia, Ankle flexion contracture, Knee flexion contracture, Telangiectasia...	OMIM:608799
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Epistaxis, Pancreatic cysts, Splenomegaly, Hepatosplenomegaly, Anemia, Subco...	ORPHA:464329
Spinocerebellar Ataxia Type 36	Skeletal muscle atrophy, Ataxia, Bowel incontinence, Limb ataxia, Dysmetria, Dysphagia, Difficult...	ORPHA:276198
Lassa Fever	Nausea and vomiting, Miscarriage, Abdominal pain, Dyspnea, Jaundice, Diarrhea, Dysphagia, Cough, ...	ORPHA:99824
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Ataxia, Hypoesthesia, Chorea, Dysmetria, Dysphagia	OMIM:618317
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Gastroesophageal reflux, Apnea	ORPHA:1949
Hypoglossia With Situs Inversus	Respiratory distress, Situs inversus totalis, Feeding difficulties in infancy, Malnutrition, Uppe...	OMIM:612776
Hypoadrenocorticism, Familial	Feeding difficulties in infancy, Cyanosis, Apnea, Vomiting	OMIM:240200
Combined Oxidative Phosphorylation Defect Type 27	Ragged-red muscle fibers, Dysphagia, Nasogastric tube feeding	ORPHA:477774
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Abnormal cardiac septum morphology, Respiratory insufficiency	OMIM:601612
Neutral Lipid Storage Disease With Ichthyosis	Ataxia, Progressive proximal muscle weakness, Cardiomyopathy, Myopathy, Shoulder girdle muscle we...	ORPHA:98907
Pulmonary Arteriovenous Malformation	Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Gastrointestinal infarctions, Pleural em...	ORPHA:2038
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hypoxemia...	ORPHA:36238
Aortic Arch Interruption	Respiratory distress, Cyanosis, Bicuspid aortic valve, Ventricular septal defect, Feeding difficu...	ORPHA:2299
Combined Oxidative Phosphorylation Deficiency 32	Death in infancy, Inability to walk, Feeding difficulties, Choreoathetosis, Constipation, Gastroe...	OMIM:617664
Craniofaciofrontodigital Syndrome	Respiratory distress, Atrial septal defect, Prominent superficial veins, Gastrointestinal hemorrh...	ORPHA:363705
Familial Partial Lipodystrophy, Dunnigan Type	Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size, Hypertrophic ca...	ORPHA:2348
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens...	OMIM:614473
Mitochondrial Dna-Associated Leigh Syndrome	Ataxia, Apnea, Dyspnea, Chorea, Dilated cardiomyopathy, Episodic respiratory distress, Ragged-red...	ORPHA:255210
Spinocerebellar Ataxia 44	Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia	OMIM:617691
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Miscarriage, Ataxia, Inability to walk, Unsteady gait, Gait ataxia, Dysphagia, Gastrostomy tube f...	ORPHA:1947
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Ataxia, Apnea, F...	OMIM:618426
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Skeletal muscle atrophy, Proximal muscle weakness, Limb-girdle muscle weakness, Premature graying...	OMIM:112250
Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome	Limb joint contracture, Ankle flexion contracture, Elbow flexion contracture, Knee flexion contra...	ORPHA:280384
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, In...	ORPHA:210122
Ebstein Anomaly	Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu...	OMIM:224700
Bardet-Biedl Syndrome 16	Respiratory distress	OMIM:615993
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Leigh Syndrome	Skeletal muscle atrophy, Distal muscle weakness, Ventricular septal defect, Ataxia, Multiple join...	ORPHA:506
Chylomicron Retention Disease	Abdominal distention, Diarrhea, Impaired proprioception, EMG: myopathic abnormalities, Myopathy, ...	ORPHA:71
Richieri Costa-Da Silva Syndrome	Decreased muscle mass, Diastasis recti, Inability to walk, Skeletal muscle hypertrophy, Falls, Dy...	ORPHA:3101
Congenital Myopathy 9A	EMG: myopathic abnormalities, Obesity	OMIM:618822
Hyperphenylalaninemia, Bh4-Deficient, C	Choreoathetosis, Dysphagia	OMIM:261630
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Poor head control, Unsteady gait, Knee flexion contracture, Calf muscle hyp...	OMIM:618733
Hemochromatosis, Type 2B	Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomyopathy	OMIM:613313
Congenital-Onset Steinert Myotonic Dystrophy	Hyperactivity, Neonatal respiratory distress, Facial hypotonia, Abdominal pain, Encopresis, Diarr...	ORPHA:589821
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Melas	Progressive external ophthalmoplegia, Ataxia, Intestinal pseudo-obstruction, Gastrointestinal dys...	ORPHA:550
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy	OMIM:618321
Pparg-Related Familial Partial Lipodystrophy	Calf muscle pseudohypertrophy, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertr...	ORPHA:79083
Encephalopathy, Ethylmalonic	Death in infancy, Ataxia, Chronic diarrhea, Feeding difficulties, Acrocyanosis, Petechiae	OMIM:602473
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven...	OMIM:300952
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Inability to walk, Flexion contracture, Gait ataxia, Feeding difficulties, ...	OMIM:619383
Familial Cutaneous Collagenoma	Atrial septal defect, Congestive heart failure, Angina pectoris, Cardiomyopathy	ORPHA:53296
Pontocerebellar Hypoplasia, Type 16	Skeletal muscle atrophy, Apnea, Limb hypertonia, Dysphagia	OMIM:619527
Spinocerebellar Ataxia 42	Spastic ataxia, Ataxia, Unsteady gait, Dysphagia, Spastic gait, Impaired vibration sensation at a...	OMIM:616795
Coenzyme Q10 Deficiency, Primary, 1	Ataxia, Progressive muscle weakness, Ragged-red muscle fibers, Decreased level of coenzyme Q10 in...	OMIM:607426
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Proportionate short stature, Dilated cardiomyopathy, Intrauterine growth r...	ORPHA:71212
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Bradycardia, Intrauterine growth retardation, Hypertrophic ca...	OMIM:614702
Mitochondrial Complex I Deficiency, Nuclear Type 36	Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Thyroid Lymphoma	Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Dysphagia	ORPHA:97285
Cirrhotic Cardiomyopathy	Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C...	ORPHA:57777
Chiari Malformation Type I	Unsteady gait, Gait ataxia, Paresthesia, Dysphagia, Limb muscle weakness	OMIM:118420
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Ataxia, Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding diffi...	ORPHA:927
Succinic Acidemia	Respiratory distress	OMIM:600335
Pontocerebellar Hypoplasia, Type 17	Ventricular septal defect, Secundum atrial septal defect, Respiratory insufficiency, Gastroesopha...	OMIM:619909
Brain-Lung-Thyroid Syndrome	Respiratory distress, Neonatal respiratory distress, Hyperactivity, Ventricular septal defect, At...	ORPHA:209905
Spinocerebellar Ataxia, Autosomal Recessive 11	Ataxia, Truncal ataxia, Limb ataxia, Gait disturbance, Dysphagia	OMIM:614229
Spinocerebellar Ataxia 2	Impaired vibratory sensation, Ataxia, Ophthalmoplegia, Unsteady gait, Limb ataxia, Dysmetria, Pro...	OMIM:183090
Pulmonary Capillary Hemangiomatosis	Cyanosis, Pericardial effusion, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressur...	ORPHA:199241
Absence Of The Pulmonary Artery	Orthopnea, Cyanosis, Abnormal hemidiaphragm morphology, Cardiomegaly, Nonproductive cough, Dyspne...	ORPHA:980
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Limb joint contracture, Ankle flexion contracture, Feeding difficulties in infancy, Knee flexion ...	ORPHA:284417
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Calcinosis, Pericarditis, Myositis, Telangiectasia of the skin, Abdo...	ORPHA:93672
Diffuse Cutaneous Systemic Sclerosis	Nausea and vomiting, Telangiectasia of the skin, Malabsorption, Dyspnea, Flexion contracture, Xer...	ORPHA:220393
Gaucher Disease, Perinatal Lethal	Respiratory distress, Apnea, Akinesia, Cardiomegaly, Dysphagia, Neonatal death, Arthrogryposis mu...	OMIM:608013
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Feeding difficulties	OMIM:300934
Delpire-Mcneill Syndrome	Ventricular septal defect, Tracheoesophageal fistula, Dysphagia	OMIM:619083
Botulism	Nausea and vomiting, Abdominal pain, Diarrhea, Diaphragmatic paralysis, Xerostomia, Respiratory i...	ORPHA:1267
Thiamine-Responsive Megaloblastic Anemia Syndrome	Short stature, Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal d...	OMIM:249270
Acute Lung Injury	Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure, Addictive al...	ORPHA:178320
Lethal Recessive Chondrodysplasia	Respiratory distress, Macroglossia	ORPHA:1423
Viss Syndrome	Chronic gastritis, Prominent superficial blood vessels, Right ventricular dilatation, Gastroesoph...	OMIM:619472
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney	OMIM:608022
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance	OMIM:619466
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg...	ORPHA:411696
Wound Botulism	Respiratory insufficiency due to muscle weakness, Dyspnea, Diaphragmatic paralysis, Constipation,...	ORPHA:178475
Congenital Myopathy 22A, Classic	Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon co...	OMIM:620351
Pontocerebellar Hypoplasia, Type 8	Ventricular septal defect, Chorea, Gait ataxia, Feeding difficulties, Gastroesophageal reflux, Co...	OMIM:614961
Igg4-Related Kidney Disease	Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nephritis, Abnorma...	ORPHA:449395
Mercury Poisoning	Respiratory distress, Anorexia, Dyspnea, Generalized muscle weakness, Episodic abdominal pain, Re...	ORPHA:330021
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects	Restlessness, Aggressive behavior, Feeding difficulties, Dysphagia, Self-mutilation	OMIM:615075
Aicardi-Goutieres Syndrome 1	Poor head control, Feeding difficulties in infancy, Inability to walk, Erythema, Multiple gastric...	OMIM:225750
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea	OMIM:267450
Naxos Disease	Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi...	ORPHA:34217
Peroxisome Biogenesis Disorder 8B	Ataxia, Dysesthesia, Unsteady gait, Dysmetria, Gait ataxia, Tip-toe gait, Constipation, Decreased...	OMIM:614877
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Vomiting, Aggressive behavior	OMIM:237310
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Musculocontractural Ehlers-Danlos Syndrome	Decreased muscle mass, Abnormal heart valve morphology, Dysesthesia, Pneumothorax, Malrotation of...	ORPHA:2953
Myoglobinuria, Recurrent	Ragged-red muscle fibers	OMIM:550500
Abetalipoproteinemia	Impaired vibratory sensation, Broad-based gait, Ataxia, Impaired distal proprioception, Cardiomeg...	ORPHA:14
Breath-Holding Spells	Cyanosis	OMIM:607578
Dominant Beta-Thalassemia	Hypoplasia of the musculature, High-output congestive heart failure, Splenomegaly, Dilated cardio...	ORPHA:231226
Beckwith-Wiedemann Syndrome	Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla...	OMIM:130650
Neuraminidase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Short stature, Cardiomegaly, Splenomegaly, Cardiomyopathy	OMIM:256550
Hereditary Angioedema Type 1	Respiratory distress, Intestinal edema, Abdominal pain, Dyspnea, Diarrhea, Urticaria, Dermatograp...	ORPHA:100050
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Splenomegaly, Enlarged kidney, Me...	OMIM:276700
Obesity-Hypoventilation Syndrome	Hypoventilation, Cyanosis	OMIM:257500
Refsum Disease, Classic	Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Arrhythmia	OMIM:266500
Hyperphenylalaninemia, Bh4-Deficient, A	Ataxia, Feeding difficulties, Choreoathetosis, Dysphagia, Poor suck, Limb hypertonia	OMIM:261640
Spastic Paraplegia 54, Autosomal Recessive	Bowel incontinence, Distal upper limb muscle weakness, Constipation, Dysphagia, Distal lower limb...	OMIM:615033
Alstrom Syndrome	Hepatomegaly, Short stature, Congestive heart failure, Dilated cardiomyopathy, Hypertension	OMIM:203800
Combined Oxidative Phosphorylation Deficiency 33	Progressive external ophthalmoplegia, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hy...	OMIM:617713
Nipah Virus Disease	Respiratory distress, Anorexia, Nausea and vomiting, Cough	ORPHA:99825
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Progeroid facial appearance, Ophthalmoplegia, Unsteady gait, Impaired proprioception, Limb ataxia...	ORPHA:412057
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Feeding difficulties in infancy, Abdominal distention, Macroglossia, Consti...	ORPHA:226313
Scimitar Syndrome	Respiratory distress, Ventricular septal defect, Dextrocardia, Mitral atresia, Abnormal hemidiaph...	ORPHA:185
Sepsis In Premature Infants	Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Gastrointestinal dysm...	ORPHA:90051
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria	ORPHA:100057
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Early Myoclonic Encephalopathy	Poor suck, Dysphagia, Feeding difficulties	ORPHA:1935
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia	OMIM:610768
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, C...	ORPHA:137675
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Somatic sensory dysfunction, Gait disturbance, Shuffling gait, Dysphagia	OMIM:221820
Machado-Joseph Disease	Impaired vibratory sensation, Ataxia, External ophthalmoplegia, Limb ataxia, Dysphagia, Progressi...	OMIM:109150
Lethal Congenital Contracture Syndrome 9	Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo...	OMIM:616503
Myasthenia Gravis	Facial palsy, Proximal muscle weakness, Fatigable weakness, Dysphagia, Limb muscle weakness	OMIM:254200
Pituitary Adenoma 1, Multiple Types	Left ventricular hypertrophy, Hypertension, Cardiomyopathy	OMIM:102200
Foodborne Botulism	Nausea and vomiting, Abdominal pain, Respiratory insufficiency due to muscle weakness, Diarrhea, ...	ORPHA:228371
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Proteinuria, Epistaxis, Chronic neutropenia, Stage 5 chronic kidney disease, Nephro...	ORPHA:79259
Congenital Myopathy 22B, Severe Fetal	Waddling gait, Respiratory distress, Scapular winging, Hip contracture, Limb joint contracture, S...	OMIM:620369
Iatrogenic Botulism	Dyspnea, Diaphragmatic paralysis, Xerostomia, Constipation, Dysphagia, Muscle weakness	ORPHA:254509
Immunodeficiency 10	Myopathy	OMIM:612783
Xanthinuria, Type I	Myopathy	OMIM:278300
Lopes-Maciel-Rodan Syndrome	Unsteady gait, Bruxism, Feeding difficulties, Agitation, Dysphagia, Abnormal repetitive mannerisms	OMIM:617435
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Skeletal muscle atrophy, Pulmonary embolism, Feeding difficulties in infanc...	ORPHA:3260
Late-Infantile/Juvenile Krabbe Disease	Ataxia, Neuromuscular dysphagia, Feeding difficulties, Impaired tactile sensation, Upper limb mus...	ORPHA:206443
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity	Impaired vibration sensation in the lower limbs, Impaired proprioception, Dysphagia, Gait ataxia,...	ORPHA:352641
Cleft Lip And Alveolus	Abnormality of masticatory muscle, Abnormal pattern of respiration, Dysphagia	ORPHA:141291
Mitochondrial Membrane Protein-Associated Neurodegeneration	Bowel incontinence, Respiratory insufficiency, Gait disturbance, Shuffling gait, Dysphagia, Muscl...	ORPHA:289560
Buerger Disease	Acrocyanosis, Paresthesia	ORPHA:36258
Combined Oxidative Phosphorylation Deficiency 3	Hepatomegaly, Dilated cardiomyopathy, Rhabdomyolysis, Concentric hypertrophic cardiomyopathy, Int...	OMIM:610505
Infantile Krabbe Disease	Respiratory distress, Poor head control, Nasogastric tube feeding in infancy, Feeding difficultie...	ORPHA:206436
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Cyanosis, Overriding aorta, Pulmonic stenosis, Atrial septal defect, Double outlet right ventricl...	ORPHA:3304
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Nephrolithiasis, Hypertension, Focal segmental glomerulosclerosis, Enl...	OMIM:232200
16Q24.3 Microdeletion Syndrome	Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect	ORPHA:261250
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypertension, Arrhythmia, Cardiomyopathy	ORPHA:3222
Vici Syndrome	Postnatal growth retardation, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, M...	OMIM:242840
Beta-Thalassemia Major	Hepatomegaly, Hypoplasia of the musculature, High-output congestive heart failure, Splenomegaly, ...	ORPHA:231214
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Urethral atresia, Hydronephrosis, Enlarged kidney	OMIM:314390
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea, Feeding difficulties	OMIM:614669
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Somatic sensory dysfunction, Proximal muscle weakness, Gowers sign, Increased variability in musc...	ORPHA:502423
Ethylene Glycol Poisoning	Cyanosis, Ataxia, Facial palsy, Nausea, Gastritis, Ophthalmoplegia, Tachypnea, Episodic respirato...	ORPHA:31826
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Bulbar palsy, Ataxia, Dysphagia, Proximal muscle weakness	OMIM:615911
Familial Isolated Hypoparathyroidism	Myopathy	ORPHA:2238
Dyskeratosis Congenita, Autosomal Dominant 2	Dilated cardiomyopathy, Short stature	OMIM:613989
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Restlessness, Poor head control, Ataxia, Chorea, Choreoathetosis, Falls, Agitation, Dysphagia	ORPHA:13
Wars2-Related Combined Oxidative Phosphorylation Defect	Poor head control, Ataxia, Aggressive behavior, Dysmetria, Cardiomyopathy, Athetosis, Generalized...	ORPHA:572798
Eosinophilic Fasciitis	Muscular edema, Myositis, Acrocyanosis, Paresthesia	ORPHA:3165
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Conjunctival telangiectasia, Distal muscle weakness, Chorea, Impaired distal vibration sensation,...	OMIM:606002
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc...	ORPHA:3342
Pulmonary Alveolar Microlithiasis	Mitral valve calcification, Cyanosis, Increased pulmonary vascular resistance, Nonproductive coug...	ORPHA:60025
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Acute hepatic failure, Pain insensitivity, Broad-based gait, Ataxia, Distal...	OMIM:256810
Double Outlet Left Ventricle	Double outlet left ventricle, Cyanosis, Ventricular septal defect, Cardiomegaly, Bicuspid pulmona...	ORPHA:3427
Waardenburg Syndrome Type 3	Atrial septal defect, Acrocyanosis, Camptodactyly of finger, Tracheomalacia	ORPHA:896
Carnitine Palmitoyltransferase Ii Deficiency	Neonatal respiratory distress, Rhabdomyolysis, Episodic abdominal pain, Cardiomyopathy, Myopathy,...	ORPHA:157
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Intestinal obstruction, Ataxia, Abdominal pain, Diarrhea, Erythema, ...	ORPHA:343
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove...	ORPHA:324410
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Choreoathetosis, Chorea, Respiratory distress, Nausea and vomiting	ORPHA:289916
German Syndrome	Camptodactyly of finger, Abnormal cardiac septum morphology, Dysphagia, Arthrogryposis multiplex ...	ORPHA:2077
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Polysplenia, Cystic renal dysplasia, Enlarged kidney	OMIM:200995
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,...	ORPHA:70588
Alexander Disease Type Ii	Limb muscle weakness, Ataxia, Dysphagia	ORPHA:363722
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter	OMIM:619173
Short Stature, Microcephaly, And Endocrine Dysfunction	Intrauterine growth retardation, Dilated cardiomyopathy, Short stature, Disproportionate short-li...	OMIM:616541
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress, Decreased muscle mass, Flexion contracture, Acute infantile spinal muscular...	OMIM:271225
Developmental And Epileptic Encephalopathy 72	Inability to walk, Dysphagia	OMIM:618374
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Ataxia, Inability to walk, Chorea, Feeding difficulties, Dysphagia	OMIM:617672
Malignant Hyperthermia Of Anesthesia	Acute hepatic failure, Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Hypercapnia, Tachyp...	ORPHA:423
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven...	OMIM:601005
Endocrine-Cerebroosteodysplasia	Small scrotum, Hypospadias, Cryptorchidism, Sex reversal, Microphallus, Ambiguous genitalia, Hype...	OMIM:612651
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Oromandibular Dystonia	Respiratory distress, Torticollis, Dysphagia, Bruxism	ORPHA:93958
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Episodic tachypnea, Feeding difficulties, Apneic episodes in infancy, Dysphagia, Meckel diverticu...	ORPHA:163961
Holocarboxylase Synthetase Deficiency	Respiratory distress, Nausea and vomiting, Ataxia, Anorexia, Tachypnea	ORPHA:79242
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hepatomegaly, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, A...	OMIM:212138
Hyperprolinemia Type 2	Abdominal pain, Dysesthesia, Aggressive behavior, Diarrhea, Unsteady gait, Ophthalmoparesis, Dist...	ORPHA:79101
Congenital Tracheal Stenosis	Respiratory distress, Cyanosis, Ventricular septal defect, Abnormal stomach morphology, Neonatal ...	ORPHA:141127
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	EMG: myopathic abnormalities, Ophthalmoplegia, Muscle weakness	ORPHA:457365
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca...	OMIM:615745
Unilateral Polymicrogyria	Poor head control, Cyanosis, Apnea, Epistaxis, Abnormal heart morphology, Pseudobulbar paralysis,...	ORPHA:268943
Al Amyloidosis	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Gastroparesis, Nonproduct...	ORPHA:85443
Pontocerebellar Hypoplasia, Type 2A	Restlessness, Feeding difficulties in infancy, Chorea, Death in childhood, Congenital contracture...	OMIM:277470
Spinocerebellar Ataxia, Autosomal Recessive 7	Impaired vibratory sensation, Ataxia, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Dysphagia	OMIM:609270
Cach Syndrome	Flexion contracture, Truncal ataxia, Limb ataxia, Dysmetria, Feeding difficulties, Vomiting, Dysp...	ORPHA:135
Hyperphenylalaninemia, Bh4-Deficient, B	Choreoathetosis, Limb hypertonia, Dysphagia	OMIM:233910
Lipodystrophy, Congenital Generalized, Type 4	Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Pyloric stenosis, Generaliz...	OMIM:613327
4H Leukodystrophy	Ataxia, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia, Dysphagia	ORPHA:289494
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO	ORPHA:747
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Unilateral renal agenesis, Ovarian cyst, Splenic cyst, Enlarged kidney	OMIM:618188
Wieacker-Wolff Syndrome, Female-Restricted	Hip contracture, Distal muscle weakness, Facial palsy, Inability to walk, Achilles tendon contrac...	OMIM:301041
Muscle-Eye-Brain Disease	Myopathy, Gait disturbance	ORPHA:588
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Pain insensitivity, Scapular winging, Ventricular septal defect, Aggressive behavior, Feeding dif...	OMIM:617061
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Vasculitis, Lymphocytosis, Hemophagocy...	OMIM:308240
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy	OMIM:252920
Developmental And Epileptic Encephalopathy 46	Limb hypertonia, Feeding difficulties, Dysphagia	OMIM:617162
Hemihyperplasia-Multiple Lipomatosis Syndrome	Telangiectasia of the skin, Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma, Enlarge...	ORPHA:276280
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis, Aggressive behavior, Gait disturbance, Gait imbalance, Difficulty walking, Dysphagia	ORPHA:488627
Hemochromatosis, Type 1	Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopath...	OMIM:235200
Machado-Joseph Disease Type 3	Distal lower limb amyotrophy, Progressive external ophthalmoplegia, Skeletal muscle atrophy, Dist...	ORPHA:276244
Classic Pantothenate Kinase-Associated Neurodegeneration	Inability to walk, Dysphagia, Tip-toe gait, Gait disturbance, Aspiration pneumonia, Cough, Attent...	ORPHA:216866
Mepan Syndrome	Ataxia, Chorea, Feeding difficulties, Gait disturbance, Dysphagia, Muscle weakness	ORPHA:508093
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti...	OMIM:619350
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Jaundice, Vomiting, Neonatal death, Nausea, Muscle weakness	OMIM:231680
Ohdo Syndrome, Sbbys Variant	Dilated cardiomyopathy	OMIM:603736
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul...	OMIM:612949
Odontomatosis-Aortae Esophagus Stenosis Syndrome	Myocarditis, Hepatic failure, Dysphagia	ORPHA:2724
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Pain insensitivity, Ataxia, Facial hypotonia, Inability to walk, Chorea, Repetitive compulsive be...	OMIM:300260
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Renal insufficiency, Recurrent urinary tract infections, Portal hype...	ORPHA:731
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defe...	OMIM:306955
Peroxisomal Acyl-Coa Oxidase Deficiency	Dysphagia	OMIM:264470
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Hereditary Amyloidosis With Primary Renal Involvement	Abnormality of the gastrointestinal tract, Dyspepsia, Gastrointestinal hemorrhage, Intestinal obs...	ORPHA:85450
Satb2-Associated Syndrome Due To A Pathogenic Variant	Feeding difficulties in infancy, Celiac disease, Gastroesophageal reflux, Attention deficit hyper...	ORPHA:576283
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Death in early adulthood, Ataxia, Dysmetria, Dysphagia, Loss of ambulation	OMIM:607694
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Pulmonary arterial hypertension, Poor head control, Skeletal muscle atrophy	OMIM:619272
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Skeletal muscle atrophy, Dilated cardiomyopathy, Flexion contracture, Growth delay, Delayed puberty	ORPHA:89842
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Exertional dyspnea	OMIM:250800
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Postnatal growth retardation, Ventricular septal defect, Diastasis recti, Abnormal heart morphology	ORPHA:254534
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Feeding difficulties in infancy, Recurrent pneumoni...	ORPHA:314655
Lujo Hemorrhagic Fever	Respiratory distress, Crackles, Myocarditis, Nonproductive cough, Fulminant hepatitis, Odynophagi...	ORPHA:319213
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Generalized limb muscle atrophy, Cardiomyopathy, Facial diplegia, Lower limb muscle weakness, Foo...	ORPHA:521411
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f...	ORPHA:1677
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Inability to walk, Abnormal heart morphology, Gastroesophageal reflux,...	OMIM:618494
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Skeletal muscle atrophy, Ataxia, Bowel incontinence, Ophthalmoplegia, Loss of ability to walk in ...	OMIM:300243
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Hypertrophic cardiomyopathy, Tachypnea, Left ventricular noncompaction	OMIM:616501
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Impaired vibratory sensation, Decreased muscle mass, Poor wound healing, Generalized muscle weakn...	ORPHA:1900
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Poor head control, Ankle flexion contracture, Inability to walk, Dysphagia, Volvulus, Abnormal re...	OMIM:617802
Machado-Joseph Disease Type 1	Distal lower limb amyotrophy, Progressive external ophthalmoplegia, Skeletal muscle atrophy, Prog...	ORPHA:276238
Machado-Joseph Disease Type 2	Distal lower limb amyotrophy, Progressive external ophthalmoplegia, Skeletal muscle atrophy, Prog...	ORPHA:276241
Ethylmalonic Encephalopathy	Diarrhea, Acrocyanosis, Ataxia, Petechiae	ORPHA:51188
Dystonia 28	Torticollis, Feeding difficulties, Attention deficit hyperactivity disorder, Dysphagia	ORPHA:589618
Autosomal Recessive Spastic Paraplegia Type 77	Poor head control, Sudden episodic apnea, Feeding difficulties in infancy, Scissor gait, Neuromus...	ORPHA:466722
Moyamoya Disease 6 With Or Without Achalasia	Achalasia, Cutis marmorata, Livedo reticularis, Dysphagia	OMIM:615750
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Skeletal muscle atrophy, Apnea, Aggressive behavior, Unsteady gait, Flexion...	ORPHA:17
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress	OMIM:614741
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Athetosis, Dysphagia	OMIM:300857
Cardiac Valvular Dysplasia 1	Cyanosis, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmon...	OMIM:212093
Leber Optic Atrophy	Myopathy	OMIM:535000
Stormorken Syndrome	Myopathy, Bruising susceptibility, Epistaxis, Proximal muscle weakness	OMIM:185070
Mitochondrial Complex I Deficiency, Nuclear Type 8	Respiratory insufficiency, Dysphagia	OMIM:618230
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Feeding difficulties in infancy, Tachypnea	ORPHA:45452
Niemann-Pick Disease, Type C2	Death in infancy, Neonatal respiratory distress, Ataxia, Jaundice, Respiratory insufficiency, Dys...	OMIM:607625
Toxic Epidermal Necrolysis	Respiratory distress, Acute hepatic failure, Nausea and vomiting, Gastrointestinal hemorrhage, Ab...	ORPHA:537
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Exercise-induced rhabdomyolysis, Sudden cardiac death, Cardiomegaly, Reduced left v...	OMIM:201475
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Polycystic kidney dysplasia, Ambiguous genitalia, Micropenis, Renal dysplasia, Enlarged kidney	OMIM:613091
Cleft Larynx, Posterior	Aspiration, Cyanosis	OMIM:215800
Familial Nasal Acilia	Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis	ORPHA:922
Lymphoid Interstitial Pneumonia	Raynaud phenomenon, Hepatomegaly, Pulmonary venous hypertension, Enlarged kidney	ORPHA:79128
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Tricuspid regurgitation, Ataxia, Inability to walk, Dysmetria, Right bundle branch block, Mitral ...	OMIM:619576
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Akinesia, Aggressive behavior, Leg muscle stiffness, Distal sensory impairme...	OMIM:606693
Congenital Gerbode Defect	Ventricular septal defect, Crackles, Dyspnea, Right atrial enlargement, Pulmonary arterial hypert...	ORPHA:99095
Abeta Amyloidosis, Iowa Type	Gait disturbance, Dysphagia	ORPHA:324708
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Feeding difficulties, Death in childhood	OMIM:615597
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy	Dysphagia, Feeding difficulties	OMIM:613668
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Nephropathy, Glomerulop...	ORPHA:324
Mohr-Tranebjaerg Syndrome	Intrinsic hand muscle atrophy, Dysphagia	OMIM:304700
Angelman Syndrome Due To A Point Mutation	Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Feeding difficulties, Gait ...	ORPHA:411511
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Heart m...	OMIM:252500
Mitochondrial Complex I Deficiency, Nuclear Type 33	Apnea, Bronchiectasis, Respiratory insufficiency, Feeding difficulties, Aspiration pneumonia, Dys...	OMIM:618253
Leukodystrophy, Hypomyelinating, 15	Ataxia, Feeding difficulties, Athetosis, Dysphagia, Loss of ambulation, Tube feeding	OMIM:617951
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Cyanosis, Ventricular septal defect, Partial anomalous pulmonary venous return,...	OMIM:617478
Potocki-Lupski Syndrome	Hyperactivity, Oral-pharyngeal dysphagia, Feeding difficulties in infancy, Abnormal repetitive ma...	OMIM:610883
Dravet Syndrome	Progressive gait ataxia, Obsessive-compulsive trait, Cyanotic episode, Impulsivity	ORPHA:33069
Gm1 Gangliosidosis	Ataxia, Ventricular septal defect, Camptodactyly of finger, Unsteady gait, Aplasia/Hypoplasia of ...	ORPHA:354
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Aggressive behavior, Chorea, Pneumothorax, Dysphagia	OMIM:619738
Combined Oxidative Phosphorylation Deficiency 55	Progressive external ophthalmoplegia, Skeletal muscle atrophy, Proximal muscle weakness, Type 2 m...	OMIM:619743
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Leukopenia, Internal hemorrhage, Hepatom...	ORPHA:99827
Spinocerebellar Ataxia 10	Limb ataxia, Distal sensory impairment, Dysmetria, Progressive cerebellar ataxia, Gait ataxia, Dy...	OMIM:603516
Hereditary Bullous Dystrophy, Macular Type	Acrocyanosis, Pneumonia, Abnormal heart morphology	ORPHA:1867
Meacham Syndrome	Accessory spleen, Septate vagina, Male pseudohermaphroditism, Horseshoe kidney, Blind vagina, Bic...	OMIM:608978
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Restlessness, Flexion contracture, Feeding difficulties, Gastrostomy tube f...	ORPHA:544503
Noonan Syndrome 7	Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Impaired oropharyngeal swal...	OMIM:613706
Pontocerebellar Hypoplasia, Type 9	Macroglossia, Facial hypotonia, Dysphagia	OMIM:615809
Hec Syndrome	Cardiomyopathy, Arrhythmia, Endocardial fibroelastosis	ORPHA:2119
Japanese Encephalitis	Respiratory distress, Skeletal muscle atrophy, Facial palsy, Anorexia, Abdominal pain, Diarrhea, ...	ORPHA:79139
Alexander Disease Type I	Ataxia, Vomiting, Dysphagia	ORPHA:363717
Slc35A1-Cdg	Hypoxemia, Pneumonia, Respiratory distress, Subcutaneous hemorrhage	ORPHA:238459
Systemic Sclerosis	Flexion contracture, Intestinal bleeding, Interstitial cardiac fibrosis, Gastroesophageal reflux,...	ORPHA:90291
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Acrocyanosis, Joint contracture of the 5th finger, Truncal ataxia	OMIM:614407
Cardiac Valvular Dysplasia 2	Bicuspid aortic valve, Central cyanosis, Pulmonic stenosis, Subvalvular aortic stenosis, Dysplast...	OMIM:620067
Pontocerebellar Hypoplasia, Type 2B	Death in infancy, Chorea, Feeding difficulties, Death in childhood, Dysphagia, Poor suck, Limb hy...	OMIM:612389
Myotonic Dystrophy 2	Tachycardia, Premature ventricular contraction, Right bundle branch block, Oligozoospermia, Hypog...	OMIM:602668
Ogden Syndrome	Global glomerulosclerosis, Premature atrial contractions, Cardiomegaly, Cryptorchidism, Ventricul...	OMIM:300855
Tetrasomy 5P	Respiratory distress, Pulmonary arterial hypertension, Cyanosis, Aplasia/Hypoplasia of the abdomi...	ORPHA:3309
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Chorea, Choreoathetosis, Disinhibition, Dysphagia, Hypomimic face	OMIM:606159
Collagenoma, Familial Cutaneous	Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ...	OMIM:115250
Miller Fisher Syndrome	Bulbar palsy, Ataxia, Facial palsy, External ophthalmoplegia, Internal ophthalmoplegia, Paresthes...	ORPHA:98919
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension...	ORPHA:1457
Glycogen Storage Disease Vii	Increased muscle glycogen content, Increased variability in muscle fiber diameter	OMIM:232800
Xp21 Deletion Syndrome	Nausea and vomiting, Decreased muscle mass, Myopathy, Calf muscle hypertrophy, Apneic episodes in...	ORPHA:261476
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Abnormal heart morphology, Growt...	ORPHA:79282
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Skeletal muscle atrophy, Ataxia, Bowel incont...	ORPHA:496641
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Angina pectoris, Splenomegaly, Increased muscle lipid content, Abnormality of the c...	ORPHA:565612
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Bowel incontinence, Respiratory failure, Gastroesophageal re...	OMIM:616482
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Neonatal death, Rhabdomyolysis, Vomiting, Decreased liver function	OMIM:602199
Beckwith-Wiedemann Syndrome	Ureteral duplication, Hepatomegaly, Nephroblastoma, Cardiomegaly, Splenomegaly, Cryptorchidism, A...	ORPHA:116
Rere-Related Neurodevelopmental Syndrome	Ventricular septal defect, Abnormal heart morphology, Feeding difficulties, Self-injurious behavi...	ORPHA:494344
Tay-Sachs Disease	Skeletal muscle atrophy, Hip flexor weakness, Distal muscle weakness, Quadriceps muscle atrophy, ...	ORPHA:845
Combined Oxidative Phosphorylation Deficiency 42	Neonatal death, Cardiomyopathy, Intrauterine growth retardation	OMIM:618839
Choreoacanthocytosis	Peroneal muscle atrophy, Chorea, Compulsive behaviors, Muscle fiber atrophy, Loss of ambulation, ...	ORPHA:2388
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Allergic rhinitis, Abdominal pain, Malabsorption, Asth...	ORPHA:2070
Sweet Syndrome	Small vessel vasculitis, Dilated cardiomyopathy, Myositis	ORPHA:3243
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Ataxia, Limb joint contracture, Chorea, Feeding difficulties, Athetosis, Gait disturbance, Dyspha...	OMIM:617282
Q Fever	Respiratory distress, Pericarditis, Abnormal heart valve morphology, Pneumonia, Anorexia, Pericar...	ORPHA:781
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Dilated cardiomyopathy, Cardiac arrest, Hypotension	ORPHA:20
7Q31 Microdeletion Syndrome	Skeletal muscle atrophy, Hyperactivity, Torticollis, Nasogastric tube feeding in infancy, Asthma,...	ORPHA:251061
Spinocerebellar Ataxia Type 8	Impaired vibratory sensation, Ataxia, Unsteady gait, Limb ataxia, Gait ataxia, Dysphagia, Aspiration	ORPHA:98760
Radio-Tartaglia Syndrome	Ventricular septal defect, Ataxia, Impulsivity, Aggressive behavior, Gastroesophageal reflux, Gai...	OMIM:619312
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Reduced subcutaneous adipose tissue, Progeroid facial appearance, Proximal upper limb muscle hype...	ORPHA:280365
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Dilated cardiomyopathy, Growth delay, Hypertension, Biventricular hypertrophy, Thir...	OMIM:619573
Tetanus	Respiratory distress, Bowel incontinence, Abdominal pain, Tachypnea, Dysphagia	ORPHA:3299
Optic Atrophy 11	Facial diplegia, Increased variability in muscle fiber diameter, Fiber type grouping	OMIM:617302
Pontine Tegmental Cap Dysplasia	Ataxia, Facial palsy, Dysmetria, Feeding difficulties, Dysphagia, Aspiration	OMIM:614688
Tremor-Ataxia-Central Hypomyelination Syndrome	Ataxia, Impaired distal proprioception, Impaired vibration sensation in the lower limbs, Dysmetri...	ORPHA:447896
Postencephalitic Parkinsonism	Akinesia, Generalized muscle weakness, Abnormal respiratory system physiology, Dysphagia, Paresth...	ORPHA:97349
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Cardiomyopathy, Camptodactyly...	ORPHA:158687
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ataxia, Acute rhabdomyolysis, Oral-pharyngeal dysphagia, Rhabdomyolysis, Gait ataxia, Gait distur...	OMIM:616878
Combined Oxidative Phosphorylation Deficiency 41	Intrauterine growth retardation, Cardiomegaly	OMIM:618838
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure, Ventricular septal defect	OMIM:617895
Juvenile Sialidosis Type 2	Ataxia, Dysmetria, Abnormal heart morphology, Dysphagia, Loss of ambulation	ORPHA:93399
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Chronic neutropenia, Neph...	ORPHA:500095
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Scorpion Envenomation	Bundle branch block, Tachycardia, Ketonuria, Ataxia, Cardiac conduction abnormality, Congestive h...	ORPHA:466677
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Skeletal muscle atrophy, Abdominal wall muscle weakness, Cutis marmorata, S...	ORPHA:109
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Aplasia of the pectoralis major muscle, Myopathy, Facial palsy	ORPHA:1358
Listeriosis	Respiratory distress, Pericarditis, Somatic sensory dysfunction, Miscarriage, Ataxia, Pneumonia, ...	ORPHA:533
Localized Scleroderma	Skeletal muscle atrophy, Erythema, Abnormality on pulmonary function testing, Flexion contracture...	ORPHA:90289
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis, Apnea, Hepatic failure	OMIM:261680
Emanuel Syndrome	Multiple joint contractures, Ventricular septal defect, Truncus arteriosus, Congenital diaphragma...	ORPHA:96170
Mogs-Cdg	Respiratory distress, Hypoventilation, Apnea, Cardiomegaly, Chronic constipation, Atrial septal d...	ORPHA:79330
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Neck flexor weakness, Intestinal pseudo-obstruction, Oral-pharyngeal dys...	ORPHA:273
Reynolds Syndrome	Telangiectasia of the skin, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Respiratory...	ORPHA:779
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Feeding diff...	ORPHA:98794
Glycogen Storage Disease Xii	Myopathy, Increased variability in muscle fiber diameter, Muscle fiber splitting	OMIM:611881
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Increased v...	OMIM:617022
Infant Botulism	Anorexia, Abdominal pain, Respiratory insufficiency due to muscle weakness, Dyspnea, Bowel incont...	ORPHA:178478
Poems Syndrome	Pericardial effusion, Respiratory insufficiency due to muscle weakness, Restrictive ventilatory d...	ORPHA:2905
Neurodegeneration With Brain Iron Accumulation 1	Hyperactivity, Decreased muscle mass, Ataxia, Akinesia, Feeding difficulties in infancy, Phonic t...	OMIM:234200
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Contractures of the large joints, Poor head control, Nasogastric tube feeding	ORPHA:329178
Cardiac-Urogenital Syndrome	Accessory spleen, Bifid scrotum, Tachycardia, Unilateral cryptorchidism, Cryptorchidism, Enlarged...	OMIM:618280
Spinocerebellar Ataxia 6	Nausea and vomiting, Ataxia, Dysmetria, Dysphagia, Progressive cerebellar ataxia, Truncal ataxia,...	OMIM:183086
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Waddling gait, Skeletal muscle atrophy, Poor head control, Feeding difficulties, Myopathy, Type 1...	OMIM:614557
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	Progressive cerebellar ataxia, Dysphagia, Bowel incontinence, Prolonged neonatal jaundice	OMIM:618868
Meckel Syndrome 14	Cyanosis, Abdominal distention, Pneumothorax, Cardiorespiratory arrest, Protuberant abdomen, Sing...	OMIM:619879
Spinocerebellar Ataxia Type 6	Unsteady gait, Dysphagia, Gait ataxia, Progressive cerebellar ataxia, Choking episodes	ORPHA:98758
Agnathia-Otocephaly Complex	Secundum atrial septal defect, Respiratory distress, Tracheomalacia, Situs inversus totalis	OMIM:202650
Ebstein Malformation Of The Tricuspid Valve	Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Right bundle branch block, C...	ORPHA:1880
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Facial palsy, External ophthalmoplegia, Inability to walk, Chorea, Gait ataxia, Vomiting, Dysphagia	OMIM:607483
Developmental Malformations-Deafness-Dystonia Syndrome	Macroglossia, Death in early adulthood, Achalasia, Dysphagia	ORPHA:79107
Spinocerebellar Ataxia Type 13	Torticollis, Impaired distal vibration sensation, Limb ataxia, Gait ataxia, Difficulty walking, D...	ORPHA:98768
Fucosidosis	Decreased muscle mass, Acrocyanosis, Vascular skin abnormality, Cardiomegaly	ORPHA:349
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Small intestinal dysmotility, Dysphagia, Feeding difficulties, Hypopnea, ...	OMIM:619482
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Facial Paresis, Hereditary Congenital, 3	Feeding difficulties, Facial palsy, Dysphagia	OMIM:614744
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Flexion contracture	OMIM:618201
Bilateral Generalized Polymicrogyria	Total ophthalmoplegia, Oral-pharyngeal dysphagia, Feeding difficulties, Self-injurious behavior, ...	ORPHA:208447
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	ORPHA:73224
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Feeding difficulties	ORPHA:261304
Angelman Syndrome	Abnormality of the gastrointestinal tract, Broad-based gait, Hyperactivity, Ataxia, Aggressive be...	ORPHA:72
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Oliguria, Lymphocytosis, Hypochromic anemia, Anemia	ORPHA:514
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress, Congenital diaphragmatic hernia, Feeding difficulties	OMIM:606164
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Broad-based gait, Ataxia, Facial hypotonia, Feeding difficulties in infancy	ORPHA:438216
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou...	ORPHA:99125
Usher Syndrome	Myopathy, Hypertrophic cardiomyopathy, Ataxia	ORPHA:886
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Multiple joint contractures, Facial palsy, Inability to walk, Dysphagia	OMIM:128100
Bacterial Toxic-Shock Syndrome	Respiratory distress, Myositis, Sinusitis, Pneumonia, Abdominal pain, Myocarditis, Diarrhea, Tach...	ORPHA:36234
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Portal hypertension, Raynaud phenomenon, Splenomegaly, Vasculitis, Dilated cardiomy...	OMIM:615688
Adult-Onset Autosomal Dominant Leukodystrophy	Ataxia, Impaired distal vibration sensation, Impaired proprioception, Malnutrition, Dysmetria, Ga...	ORPHA:99027
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Skeletal muscle atrophy, Ataxia, Choreoathetosis, Type 2 muscle fiber predominance, Gastroesophag...	OMIM:615471
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Cyanosis, Ventricular septal defect, Aortopulmonary window, Hypoplastic left heart, Transposition...	ORPHA:99050
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Cardiomyopathy, Vomiting	OMIM:251000
Microphthalmia With Linear Skin Defects Syndrome	Tricuspid regurgitation, Severe short stature, Congenital diaphragmatic hernia, Dilated cardiomyo...	ORPHA:2556
Eisenmenger Syndrome	Ventricular tachycardia, Iron deficiency anemia, Supraventricular tachycardia, Lethargy, Brain ab...	ORPHA:97214
Multiple System Atrophy, Cerebellar Type	Broad-based gait, Neuromuscular dysphagia, Limb ataxia, Gait ataxia, Stridor, Progressive cerebel...	ORPHA:227510
Gaucher Disease, Type Ii	Death in infancy, Apnea, Ophthalmoplegia, Dysphagia, Feeding difficulties, Stridor, Gastroesophag...	OMIM:230900
Fatal Familial Insomnia	Constipation, Ataxia, Apnea, Dysphagia	OMIM:600072
Native American Myopathy	Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Congenital contracture, Campt...	ORPHA:168572
Odontochondrodysplasia	Respiratory distress, Death in infancy	ORPHA:166272
Noonan Syndrome With Multiple Lentigines	Bundle branch block, Hypospadias, Myocardial infarction, Cryptorchidism, Abnormal localization of...	ORPHA:500
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Reye syndrome-l...	ORPHA:348
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea, Feeding difficulties, Respiratory failure, Muscle flaccidity	ORPHA:2707
Diaphanospondylodysostosis	Respiratory distress	ORPHA:66637
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait, Dysphagia, Hypomimic face	ORPHA:247234
Amyotrophic Lateral Sclerosis 23	Dysphagia	OMIM:617839
17P11.2 Microduplication Syndrome	Gastroesophageal reflux, Attention deficit hyperactivity disorder, Oral-pharyngeal dysphagia	ORPHA:1713
Leprechaunism	Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis,...	ORPHA:508
Kyphoscoliotic Ehlers-Danlos Syndrome	Skeletal muscle atrophy, Bicuspid aortic valve, Dextrocardia, Poor wound healing, Feeding difficu...	ORPHA:536545
Acquired Generalized Lipodystrophy	Cardiomyopathy, Calf muscle pseudohypertrophy, Myopathy, Progeroid facial appearance	ORPHA:79086
Spinocerebellar Ataxia Type 7	Restless legs, Somatic sensory dysfunction, Ataxia, Ophthalmoplegia, Dysmetria, Ophthalmoparesis,...	ORPHA:94147
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Ventricular septal defect, Feeding difficulties in infancy, Esophageal atre...	OMIM:610536
Sporadic Infantile Bilateral Striatal Necrosis	Chorea, Gait ataxia, Hypomimic face, Gait disturbance, Dysphagia, Poor suck, Nasogastric tube fee...	ORPHA:225147
Schwartz-Jampel Syndrome	Death in infancy, Hip contracture, Skeletal muscle atrophy, Apnea, Shoulder flexion contracture, ...	ORPHA:800
Dystonia-Deafness Syndrome 1	Loss of ambulation, Achalasia, Pseudobulbar paralysis, Dysphagia	OMIM:607371
Lymphatic Malformation 7	Respiratory distress, Pericardial effusion, Abdominal distention, Chylothorax, Atrial septal defe...	OMIM:617300
Tularemia	Respiratory distress, Pleural effusion, Pneumonia, Cough	ORPHA:3392
Diamond-Blackfan Anemia 10	Respiratory distress, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphr...	OMIM:613309
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Proximal muscle weakness in upper limbs, Dilatation of the ventricular cavity, Cardiomyopathy, Di...	ORPHA:363623
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Double outlet left ventricle, Ventricular septal defect, Intestinal malrota...	ORPHA:2255
Immunodeficiency 92	Hepatomegaly, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytope...	OMIM:619652
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect, Respiratory dis...	ORPHA:2519
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2759
Truncus Arteriosus	Cyanosis, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Tachypnea, Ab...	ORPHA:3384
Arnold-Chiari Malformation Type I	Somatic sensory dysfunction, Abnormality of the musculature of the lower limbs, Dysesthesia, Gait...	ORPHA:268882
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Ataxia, Recurrent pneumonia, Flexion contracture, Feeding difficulties, Cho...	OMIM:616271
Bilateral Perisylvian Polymicrogyria	Apnea, Weakness of facial musculature, Flexion contracture, Dysmetria, Feeding difficulties, Abno...	ORPHA:98889
Myasthenic Syndrome, Congenital, 19	Increased variability in muscle fiber diameter, Facial palsy	OMIM:616720
Pseudoachondroplasia	Waddling gait, Skeletal myopathy	ORPHA:750
Congenital Enterovirus Infection	Respiratory distress, Pericardial effusion, Myocarditis, Cardiomyopathy, Pleural effusion, Hepati...	ORPHA:292
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Cachexia, Elbow flexion contracture, Knee flexion contracture, Severe failure to...	ORPHA:371364
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card...	OMIM:232300
Dystonia 2, Torsion, Autosomal Recessive	Torticollis, Dysphagia	OMIM:224500
Stevens-Johnson Syndrome	Acute hepatic failure, Nausea and vomiting, Gastrointestinal hemorrhage, Abdominal pain, Dyspnea,...	ORPHA:36426
Idiopathic Camptocormia	Myositis, Fatty replacement of skeletal muscle, Abnormal muscle fiber dysferlin, Proximal spinal ...	ORPHA:1320
Glycine Encephalopathy With Normal Serum Glycine	Hip contracture, Apnea, Flexion contracture, Elbow flexion contracture, Respiratory failure, Dysp...	OMIM:617301
Classic Progressive Supranuclear Palsy Syndrome	Impulsivity, Akinesia, Neuromuscular dysphagia, Falls, Gait imbalance, Axial muscle stiffness	ORPHA:240071
Stt3B-Cdg	Respiratory distress, Feeding difficulties	ORPHA:370924
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	Death in infancy, Neonatal respiratory distress, Nasogastric tube feeding in infancy, Dysphagia, ...	OMIM:618922
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Limb hypertonia, Pneumothorax, Cardiomegaly	OMIM:620306
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Poor appetite, Abdominal pain, Dyspnea, Diarrhea, Dysphagia, Melena,...	ORPHA:319218
Biotinidase Deficiency	Respiratory distress, Ataxia, Apnea, Limb muscle weakness, Hyperventilation	ORPHA:79241
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Eosinophilia, Cardiac arrest, Myocarditis, Tubulointerstitial nephritis, Nep...	ORPHA:139402
Dermatomyositis	Pericarditis, Telangiectasia of the skin, Proximal muscle weakness, Feeding difficulties in infan...	ORPHA:221
Mucopolysaccharidosis Type 3	Cardiomegaly, Flexion contracture, Aspiration pneumonia, Loss of ambulation, Hyperactivity, Ataxi...	ORPHA:581
X-Linked Cerebral Adrenoleukodystrophy	Hyperactivity, Ataxia, Inability to walk, Dysmetria, Hamstring contractures, Gait disturbance, Di...	ORPHA:139396
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Pelizaeus-Merzbacher Disease	Broad-based gait, Ataxia, Inability to walk, Congenital laryngeal stridor, Choreoathetosis, Dysph...	OMIM:312080
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Spontaneous esophageal perforation, Esophageal stricture, Malnutrition, Flexion contracture, Cons...	OMIM:226600
Pulmonary Hypertension, Primary, 1	Increased pulmonary vascular resistance, Dyspnea, Telangiectasia, Cough, Pulmonary arterial hyper...	OMIM:178600
Wolfram Syndrome 1	Cardiomyopathy, Ataxia, Dysphagia	OMIM:222300
Mucopolysaccharidosis, Type Iiid	Restlessness, Hyperactivity, Aggressive behavior, Diarrhea, Achilles tendon contracture, Elbow fl...	OMIM:252940
Leopard Syndrome 1	Bundle branch block, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Micropenis, Hypoplas...	OMIM:151100
Autosomal Recessive Spastic Paraplegia Type 20	Impaired vibratory sensation, Skeletal muscle atrophy, Upper limb muscle weakness, Distal amyotro...	ORPHA:101000
Lissencephaly 9 With Complex Brainstem Malformation	Feeding difficulties, Ventricular septal defect, Dysphagia	OMIM:618325
Stromme Syndrome	Jejunal atresia, Intestinal malrotation, Myopathy, Stillbirth, Duodenal atresia	OMIM:243605
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, Crypto...	OMIM:615873
Congenital Myopathy 17	Diaphragmatic eventration, Distal arthrogryposis, Failure to thrive in infancy, Myopathy	OMIM:618975
Den Hoed-De Boer-Voisin Syndrome	Lactose intolerance, Ventricular septal defect, Ataxia, Inability to walk, Death in adolescence, ...	OMIM:619229
Tarp Syndrome	Broad-based gait, Cyanosis, Apnea, Abnormal duodenum morphology, Atrial septal defect, Tetralogy ...	ORPHA:2886
Spinocerebellar Ataxia 8	Progressive cerebellar ataxia, Dysphagia	OMIM:608768
Combined Immunodeficiency Due To Crac Channel Dysfunction	Myopathy	ORPHA:169090
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Jaundice, Feeding difficulties, Hypopnea, Respiratory failure, Dysphagia...	OMIM:617248
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Broad-based gait, Tongue thrusting, Feeding difficulties, Gait imbalance, Dysphagia, Poor suck	ORPHA:98795
Ritscher-Schinzel Syndrome 4	Ataxia, Impulsivity, Aggressive behavior, Chorea, Athetosis, Dysphagia, Abnormal repetitive manne...	OMIM:619435
Nasolacrimal Duct Cyst	Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre...	ORPHA:141083
Kniest Dysplasia	Respiratory distress, Hip contracture, Gait disturbance, Tracheomalacia	OMIM:156550
Peroxisome Biogenesis Disorder 1A (Zellweger)	Neonatal respiratory distress, Ventricular septal defect, Unsteady gait, Dysphagia, Feeding diffi...	OMIM:214100
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia	OMIM:614381
Septopreoptic Holoprosencephaly	Gastrostomy tube feeding in infancy, Impulsivity, Dysphagia	ORPHA:280195
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Flexion contracture, Dysphagia	OMIM:620001
Fragile X-Associated Tremor/Ataxia Syndrome	Ataxia, Bowel incontinence, Dysesthesia, Dysmetria, Gait ataxia, Gait disturbance, Compulsive beh...	ORPHA:93256
Cryptococcosis	Respiratory distress, Pneumonia, Dyspnea, Ophthalmoplegia, Peritonitis, Pleural effusion, Vomitin...	ORPHA:1546
Autosomal Recessive Spastic Paraplegia Type 11	Ataxia, Inability to walk, Generalized limb muscle atrophy, Distal amyotrophy, Gait disturbance, ...	ORPHA:2822
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Restlessness, Pain insensitivity, Facial hypotonia, Oral-pharyngeal dysphag...	OMIM:615273
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Increased variability in muscle fiber diameter, Muscular dystrophy	OMIM:616538
Nocardiosis	Respiratory distress, Pericarditis, Abnormal heart valve morphology, Pneumonia, Anorexia, Product...	ORPHA:31204
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Respiratory distress, Neonatal respiratory distress, Steatorrhea, Exocrine p...	OMIM:260400
Dystonia-Aphonia Syndrome	Macroglossia, Unsteady gait, Gait disturbance, Dysphagia	ORPHA:412217
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Bundle branch block, Hypoplasia of penis, Ureteral duplication, Hypospadia...	ORPHA:373
Mohr-Tranebjaerg Syndrome	Inability to walk, Dysphagia, Shuffling gait, Attention deficit hyperactivity disorder, Aspiratio...	ORPHA:52368
Cocaine Intoxication	Respiratory distress, Abdominal pain, Intestinal perforation, Wheezing, Tachypnea, Pneumothorax, ...	ORPHA:90068
Mgat2-Cdg	Respiratory distress, Ventricular septal defect, Gastroparesis, Abnormal heart morphology, Feedin...	ORPHA:79329
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Prominent superficial veins, Cor triatriatum, Secundum atrial septal defect, Respiratory insuffic...	OMIM:612541
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Neonatal respiratory distress, Cardiomyopathy, Abnormal cardiac septum morp...	OMIM:217980
Good Syndrome	Sinusitis, Dyspnea, Diarrhea, Bronchiectasis, Dysphagia, Fatigable weakness, Cough	ORPHA:169105
Progressive Supranuclear Palsy	Impulsivity, Unsteady gait, Falls, Supranuclear ophthalmoplegia, Dysphagia	ORPHA:683
Alexander Disease	Nausea and vomiting, Ataxia, Facial palsy, Bowel incontinence, Chorea, Respiratory insufficiency,...	ORPHA:58
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Recurrent pneumonia, Poor suck, Feeding difficulties, Patent foramen ovale	OMIM:607143
Combined Oxidative Phosphorylation Deficiency 47	Dysphagia	OMIM:618958
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis	ORPHA:86843
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Intestinal pseudo-obstruction, Dysmetria, Dysphagia	OMIM:619780
Mucopolysaccharidosis, Type Iiic	Diarrhea, Hyperactivity, Dysphagia, Asymmetric septal hypertrophy	OMIM:252930
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Protuberant abdomen	OMIM:617102
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Gastritis, Pneumonia, Malabsorption, Ileus, Secretory diarrhea, U...	ORPHA:37042
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dystrophy, Increased ...	OMIM:613150
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ...	OMIM:187300
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Bulbar palsy, Apnea, Respiratory insufficiency, Feeding difficulties, Contractures of the large j...	OMIM:617527
Pitt-Hopkins Syndrome	Ataxia, Aganglionic megacolon, Hiatus hernia, Aggressive behavior, Gait ataxia, Feeding difficult...	ORPHA:2896
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,...	OMIM:231005
Immunodeficiency 58	Helicobacter pylori infection, Allergic rhinitis, Asthma, Chronic pulmonary obstruction, Recurren...	OMIM:618131
Myopathy, Mitochondrial, And Ataxia	Increased variability in muscle fiber diameter, Distal amyotrophy	OMIM:617675
Odontochondrodysplasia 1	Respiratory distress, Death in infancy	OMIM:184260
1P36 Deletion Syndrome	Abnormal heart valve morphology, Camptodactyly of finger, Feeding difficulties in infancy, Pylori...	ORPHA:1606
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Myeloproliferative disorder...	ORPHA:79456
Chronic Graft Versus Host Disease	Anorexia, Flexion contracture, Xerostomia, Gastroesophageal reflux, Cough, Nausea, Poor wound hea...	ORPHA:99921
Inhalational Anthrax	Respiratory distress, Dyspnea, Vomiting	ORPHA:247257
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Dyspepsia, Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Dyspnea, Dysphagia, Abnorma...	ORPHA:1018
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Situs inversus totalis, Respiratory distress	ORPHA:990
Hereditary Xanthinuria	Myopathy	ORPHA:3467
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Arrhythmia, Ventricular bigeminy, Left bundle branch block	OMIM:610131
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Ataxia, Choreoathetosis, Gait imbalance, Dysphagia	ORPHA:64753
Heart Block, Congenital	Atrioventricular block, Myocardial fibrosis, Absent atrioventricular node, Myocardial calcificati...	OMIM:234700
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Ataxia, Acute rhabdomyolysis, Feeding difficulties in infancy, Gastrointestinal dysmotility, Dysp...	ORPHA:480864
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Stillbirth, Protuberant abdomen	OMIM:151210
Multiple Endocrine Neoplasia, Type Iib	Colonic diverticula, Aganglionic megacolon, Diarrhea, Myopathy, Constipation, Flushing	OMIM:162300
Esophagitis, Eosinophilic, 2	Vomiting, Esophagitis, Dysphagia	OMIM:613412
Esophagitis, Eosinophilic, 1	Vomiting, Esophagitis, Dysphagia	OMIM:610247
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis	OMIM:226100
Oculoauriculovertebral Spectrum With Radial Defects	EMG: myopathic abnormalities, Atrioventricular canal defect	ORPHA:2549
Farber Disease	Respiratory distress, Skeletal muscle atrophy, Chronic diarrhea, Flexion contracture, Respiratory...	ORPHA:333
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Oral-pharyngeal dysphagia	ORPHA:480907
Parkinson Disease 20, Early-Onset	Dysphagia, Gait disturbance, Shuffling gait, Leg muscle stiffness, Short stepped shuffling gait	OMIM:615530
Cerebral Palsy, Spastic Quadriplegic, 3	Dysphagia	OMIM:617008
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Ataxia, Interstitial emphysema, Bronchiectasis, Dysmetria, Knee flexion contracture, Inflammation...	OMIM:619708
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Feeding difficulties in infancy, Generalized muscle weakness, Athetosis, Proximal muscle weakness...	ORPHA:280633
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Feeding difficulties in infancy, Flexion contracture, Agitation, Dysphagia, Aspiration	ORPHA:2148
Lipodystrophy, Familial Partial, Type 7	Reduced subcutaneous adipose tissue, Decreased adipose tissue around neck, Cutis marmorata, Lack ...	OMIM:606721
X-Linked Dystonia-Parkinsonism	Chorea, Shuffling gait, Difficulty walking, Aspiration pneumonia, Impaired oropharyngeal swallow ...	ORPHA:53351
Tick-Borne Encephalitis	Skeletal muscle atrophy, Somatic sensory dysfunction, Facial palsy, Anorexia, Ophthalmoplegia, Vo...	ORPHA:297
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Petechiae, Pneumonia, Epistaxis, Abdominal pain, Hematemesis, Dyspnea, Diar...	ORPHA:340
Chitayat Syndrome	Respiratory distress, Tracheomalacia	OMIM:617180
Sanjad-Sakati Syndrome	Myopathy, Intestinal obstruction	ORPHA:2323
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Abnor...	ORPHA:177907
Arboleda-Tham Syndrome	Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Intestinal malrot...	OMIM:616268
Wolcott-Rallison Syndrome	Hepatomegaly, Renal insufficiency, Chronic kidney disease, Iron deficiency anemia, Lymphocytosis,...	ORPHA:1667
Spinocerebellar Ataxia Type 42	Unsteady gait, Gait ataxia, Dysphagia, Spastic gait, Impaired vibration sensation at ankles	ORPHA:458803
Glycerol Kinase Deficiency	Myopathy, Small for gestational age, Muscular dystrophy	OMIM:307030
Ramos-Arroyo Syndrome	Respiratory distress, Aganglionic megacolon, Feeding difficulties in infancy, Xerostomia, Chronic...	ORPHA:1051
Hereditary Late-Onset Parkinson Disease	Akinesia, Impulsivity, Chronic constipation, Agitation, Shuffling gait, Dysphagia, Hypomimic face	ORPHA:411602
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Dysphagia, Feeding difficulties, Death in childhood, Respiratory failure, Tube feeding	OMIM:619847
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hypoventilation, Cyanosis, Central hypoventilation, Impaired pain sensation, Aggressive behavior,...	ORPHA:293987
Igg4-Related Pachymeningitis	Somatic sensory dysfunction, Sinusitis, Dyspnea, Dysphagia, Lower limb muscle weakness, Parotitis	ORPHA:449427
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Hypospadias, Nephroblastoma, Supernumerary nipple, Splenomegaly, Cryptorchidism, Re...	OMIM:312870
Ectodermal Dysplasia/Short Stature Syndrome	Asthma, Esophageal stricture, Dysphagia	OMIM:616029
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Decreased muscle mass, Gastroesophageal reflux, Hepatic hemangioma, Dysphagia, Recurrent aspirati...	ORPHA:73230
Colchicine Poisoning	Respiratory distress, Myocarditis, Diarrhea, Cardiorespiratory arrest, Vomiting, Nausea	ORPHA:31824
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Gait disturbance, Dysphagia	ORPHA:136
Semilobar Holoprosencephaly	Central apnea, Inability to walk, Flexion contracture, Dysphagia, Abnormal heart morphology, Feed...	ORPHA:220386
Alobar Holoprosencephaly	Central apnea, Inability to walk, Flexion contracture, Dysphagia, Abnormal heart morphology, Feed...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Inability to walk, Flexion contracture, Dysphagia, Abnormal heart morphology, Feed...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Inability to walk, Flexion contracture, Dysphagia, Abnormal heart morphology, Feed...	ORPHA:93924
Kagami-Ogata Syndrome	Respiratory failure requiring assisted ventilation, Poor head control, Diastasis recti, Feeding d...	ORPHA:254519
Moebius Syndrome	Death in infancy, Skeletal muscle atrophy, Facial palsy, Feeding difficulties in infancy, Ophthal...	ORPHA:570
Hypotonia, Ataxia, And Delayed Development Syndrome	Pain insensitivity, Broad-based gait, Ataxia, Poor head control, Dysmetria, Gait ataxia, Dysphagi...	OMIM:617330
Stuve-Wiedemann Syndrome 1	Death in infancy, Apnea, Impaired pain sensation, Elbow flexion contracture, Respiratory insuffic...	OMIM:601559
Cleft Velum	Nasal regurgitation, Poor suck, Aspiration pneumonia, Oral-pharyngeal dysphagia	ORPHA:99772
Primary Progressive Freezing Gait	Restless legs, Dysphagia, Shuffling gait, Gait imbalance, Difficulty walking	ORPHA:75567
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ...	OMIM:607872
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Feeding difficulties in infancy, Diarrhea, Decreased sensitivity to hypoxemia, Vomiting, Gastroes...	OMIM:223900
Alzheimer Disease 3	Gait disturbance, Dysphagia, Optic ataxia	OMIM:607822
Neurodegeneration With Brain Iron Accumulation 2B	Hyperactivity, Impulsivity, Chorea, Dysmetria, Gait ataxia, Feeding difficulties, Dysdiadochokine...	OMIM:610217
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	External ophthalmoplegia, Feeding difficulties, Dysphagia, Muscle weakness, Nasogastric tube feeding	ORPHA:485421
Niemann-Pick Disease, Type C1	Fatal liver failure in infancy, Ataxia, Gait ataxia, Prolonged neonatal jaundice, Dysphagia	OMIM:257220
Acquired Purpura Fulminans	Hepatic failure, Acrocyanosis, Macular purpura	ORPHA:49566
Leptospirosis	Respiratory distress, Nausea and vomiting, Pericarditis, Anorexia, Abdominal pain, Jaundice, Diar...	ORPHA:509
Lesch-Nyhan Syndrome	Poor head control, Choreoathetosis, Self-injurious behavior, Vomiting, Dysphagia	OMIM:300322
Gastrointestinal Stromal Tumor	Intestinal obstruction, Gastrointestinal stroma tumor, Urticaria, Constipation, Dysphagia	OMIM:606764
Adnp Syndrome	Respiratory distress, Oral-pharyngeal dysphagia, Aggressive behavior, Chronic constipation, Gastr...	ORPHA:404448
Plaa-Associated Neurodevelopmental Disorder	Bulbar palsy, Apnea, Respiratory insufficiency, Feeding difficulties, Contractures of the large j...	ORPHA:521426
Neuroferritinopathy	Hypomimic face, Chorea, Difficulty walking, Dysphagia	ORPHA:157846
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Dyspnea, Esophageal stricture, Dilated cardiomyopathy, Pneumotho...	ORPHA:79404
Gitelman Syndrome	Respiratory distress, Nausea and vomiting, Salt craving, Abdominal pain, Pericardial effusion, Di...	ORPHA:358
Gastrointestinal Stromal Tumor	Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach...	ORPHA:44890
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Flexion contracture, Stridor, Constipation, Gastroesophageal reflux, Attention deficit hyperactiv...	OMIM:620029
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Torticollis, Multiple joint contractures, Repeated pneumothoraces, Respirat...	ORPHA:536467
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Neonatal respiratory distress, Somatic sensory dysfunction, Ataxia, Esophageal stenosis, Feeding ...	OMIM:615510
Plague	Respiratory distress, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Unsteady gait, Enterocolit...	ORPHA:707
Esophageal Ring, Lower	Dysphagia, Hiatus hernia	OMIM:133240
Alpha-Mannosidosis, Infantile Form	Facial hypotonia, Ataxia, Pneumonia, Macroglossia, Myopathy, Recurrent gastroenteritis	ORPHA:309282
Autoimmune Lymphoproliferative Syndrome	Reticulocytosis, Autoimmune hemolytic anemia, Hepatomegaly, Renal insufficiency, Eosinophilia, Gl...	ORPHA:3261
Opitz Gbbb Syndrome	Ventricular septal defect, Rectourethral fistula, Gastroesophageal reflux, Dysphagia, Aspiration	OMIM:300000
Primary Lateral Sclerosis	Somatic sensory dysfunction, Spastic gait, Dysphagia	ORPHA:35689
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Foot joint contracture, Dilated cardiomyopathy, Flexion contracture, Growth delay, Delayed puberty	ORPHA:79408
Microform Holoprosencephaly	EMG: myopathic abnormalities, Asthma, Tetralogy of Fallot, Duodenal atresia	ORPHA:280200
Hutchinson-Gilford Progeria Syndrome	Ventricular hypertrophy, Prominent superficial blood vessels, Cyanosis, Mitral stenosis, Mitral v...	ORPHA:740
Gaucher Disease	Death in infancy, Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardi...	ORPHA:355
Intellectual Developmental Disorder, Autosomal Dominant 42	Aggressive behavior, Inability to walk, Asthma, Phonic tics, Feeding difficulties, Stridor, Atten...	OMIM:616973
Rodrigues Blindness	Ectodermal dysplasia, Nasal flaring	OMIM:268320
Opitz Gbbb Syndrome	Ventricular septal defect, Tracheomalacia, Congenital diaphragmatic hernia, Feeding difficulties ...	ORPHA:2745
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,...	OMIM:600376
Familial Dysautonomia	Ataxia, Impaired pain sensation, Feeding difficulties in infancy, Gait disturbance, Gastroesophag...	ORPHA:1764
Developmental And Epileptic Encephalopathy 100	Chorea, Bilateral camptodactyly, Elbow flexion contracture, Gait ataxia, Choreoathetosis, Chronic...	OMIM:619777
Williams Syndrome	Bicuspid aortic valve, Cardiomegaly, Rectal prolapse, Dysmetria, Gastroesophageal reflux, Compuls...	ORPHA:904
Niemann-Pick Disease Type C	Ataxia, Aggressive behavior, Jaundice, Chorea, Aplasia/Hypoplasia of the abdominal wall musculatu...	ORPHA:646
Marbach-Rustad Progeroid Syndrome	Right bundle branch block, Pulmonary insufficiency	OMIM:619322
Primary Hyperoxaluria	Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Heart block, Raynaud phenomenon, Arteri...	ORPHA:416
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Atrial septal defect, Respiratory distress, Feeding difficulties	OMIM:300968
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Poor head control, Inability to walk, Feeding difficulties, Gastroesophageal reflux, ...	OMIM:617913
2P15P16.1 Microdeletion Syndrome	Facial palsy, Camptodactyly of finger, Feeding difficulties, Gait disturbance, Attention deficit ...	ORPHA:261349
Parkinsonian-Pyramidal Syndrome	Hypomimic face, Shuffling gait, Dysphagia	ORPHA:171695
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Apnea, Flexion contracture, Facial erythema, Knee flexion contracture, Aspiration, Diaphragmatic ...	OMIM:619503
Hyperlysinemia	Hyperactivity, Recurrent pneumonia, Dysmetria, Feeding difficulties, Tip-toe gait, Gastroesophage...	ORPHA:2203
Sick Sinus Syndrome 2	Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse	OMIM:163800
Osteogenesis Imperfecta, Type X	Respiratory distress, Pyloric stenosis, Recurrent pneumonia, Death in childhood, Chronic lung dis...	OMIM:613848
Postinfectious Vasculitis	Palpable purpura, Cutis marmorata, Pneumonia, Anorexia, Abdominal pain, Gastrointestinal inflamma...	ORPHA:48435
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Death in infancy, Bicuspid aortic valve, Mitral atresia, Ataxia, Tachypnea, Aortic valve atresia,...	OMIM:220111
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Atrial septal defect, Tracheobronchomalacia, Patent foramen ovale, Oral-pharyngeal dysphagia	OMIM:619184
Tuberous Sclerosis Complex	Respiratory distress, Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive beha...	ORPHA:805
Parkinson Disease 1, Autosomal Dominant	Loss of ambulation, Gait disturbance, Shuffling gait, Dysphagia	OMIM:168601
Fatty Acid Hydroxylase-Associated Neurodegeneration	Loss of ambulation, Progressive gait ataxia, Falls, Dysphagia	ORPHA:329308
Achondroplasia	Respiratory distress, Death in infancy, Upper airway obstruction, Feeding difficulties	OMIM:100800
Plummer-Vinson Syndrome	Poor appetite, Geophagia, Abdominal pain, Esophageal web, Dysphagia	ORPHA:54028
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Right bundle branch block	OMIM:618590
Spondyloepiphyseal Dysplasia Congenita	Waddling gait, Restrictive ventilatory defect, Respiratory distress	OMIM:183900
Meier-Gorlin Syndrome 1	Respiratory distress, Death in infancy, Feeding difficulties in infancy, Flexion contracture, Gas...	OMIM:224690
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Jaundice, Prolonged neonatal jaundice	OMIM:274150
9Q33.3Q34.11 Microdeletion Syndrome	Epistaxis, Inability to walk, Asthma, Telangiectasia, Constipation, Esophagitis, Dysphagia	ORPHA:495818
Congenital Disorder Of Glycosylation, Type Iq	Dysphagia	OMIM:612379
Stüve-Wiedemann Syndrome	Respiratory distress, Apnea, Camptodactyly of finger, Impaired pain sensation, Feeding difficulti...	ORPHA:3206
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Aggressive behavior, Asthma, Gastrointestinal dysmotility, Nasal flaring, Feeding difficulties, S...	ORPHA:466943
Visceral Myopathy 1	Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di...	OMIM:155310
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Radio-Renal Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion	ORPHA:3015
Neuroleptic Malignant Syndrome	Pulmonary embolism, Chorea, Rhabdomyolysis, Vomiting, Agitation, Aspiration pneumonia, Dysphagia,...	ORPHA:94093
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Death in infancy, Abdominal distention, Jaundice, Hepatic failure	OMIM:617156
Full Nf2-Related Schwannomatosis	Somatic sensory dysfunction, Facial palsy, Unsteady gait, Wrist drop, Hyperesthesia, Dysphagia, F...	ORPHA:637
Generalized Eruptive Keratoacanthoma	Dysphagia	ORPHA:411777
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Tricuspid regurgitation, Cryptorchidism, Right bundle branch block, Mitral regurgitation, Pulmoni...	OMIM:617506
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypoventilation, Broad-based gait, Bicuspid aortic valve, Ventricular septal defect, Apnea, Breat...	ORPHA:438213
Glutaryl-Coa Dehydrogenase Deficiency	Ataxia, Chorea, Feeding difficulties, Athetosis, Dysphagia	ORPHA:25
Maffucci Syndrome	Dysphagia	ORPHA:163634
Rubinstein-Taybi Syndrome 1	Respiratory distress, Hyperactivity, Ventricular septal defect, Impulsivity, Feeding difficulties...	OMIM:180849
Nestor-Guillermo Progeria Syndrome	Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, S...	OMIM:614008
Methylmalonic Aciduria, Cblb Type	Respiratory distress, Feeding difficulties in infancy, Vomiting	OMIM:251110
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Abnormal repetitive mannerisms, Dysphagia	ORPHA:572013
Deeah Syndrome	Death in infancy, Neonatal respiratory distress, Impaired pain sensation, Malabsorption, Chronic ...	OMIM:619004
Wilson Disease	Acute hepatic failure, Hypoesthesia, Jaundice, Abdominal distention, Esophageal varix, Dysphagia,...	OMIM:277900
Kasabach-Merritt Syndrome	Respiratory distress, Abdominal pain, Abdominal distention, Hypopnea, Hepatic hemangioma, Petechi...	ORPHA:2330
Classical Ehlers-Danlos Syndrome	Prematurely aged appearance, Poor wound healing, Nausea, Hiatus hernia, Rectal prolapse, Mitral v...	ORPHA:287
Kufor-Rakeb Syndrome	Bowel incontinence, Generalized muscle weakness, Leg muscle stiffness, Gait disturbance, Difficul...	ORPHA:306674
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Broad-based gait, Ventricular septal defect, Abnormal pulmonary valve morphology, Ataxia, Aggress...	ORPHA:268261
8Q24.3 Microdeletion Syndrome	Respiratory distress, Gastrointestinal hemorrhage, Hyperactivity, Ventricular septal defect, Feed...	ORPHA:508488
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly	ORPHA:79280
Gm1-Gangliosidosis, Type Ii	Ataxia, Gait disturbance, Dysphagia	OMIM:230600
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Respiratory distress, Cyanosis, Cardiomegaly, Pericardial effusion, Myoc...	ORPHA:51608
Johanson-Blizzard Syndrome	Hepatomegaly, Short stature, Ventricular septal defect, Portal hypertension, Situs inversus total...	OMIM:243800
Developmental And Epileptic Encephalopathy 50	Diarrhea, Broad-based gait, Dysphagia, Death in childhood	OMIM:616457
Joubert Syndrome 21	Ataxia, Apnea, Dyspnea, Respiratory failure, Dysphagia, Chronic sinusitis	OMIM:615636
Trisomy 10P	Decreased muscle mass, Abnormal heart morphology, Rectovaginal fistula, Gastroesophageal reflux, ...	ORPHA:171929
Pfeiffer Syndrome Type 2	Respiratory distress, Intestinal malrotation, Tracheomalacia	ORPHA:93259
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Cutis marmorata, Cardiomegaly, Difficulty walking, Prolong...	ORPHA:51
Trichinellosis	Facial palsy, Ophthalmoplegia, Dysphagia, Nausea, Muscle weakness	ORPHA:863
Neuhauser Syndrome	Ataxia, Dysphagia	OMIM:249310
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Poor head control, Facial hypotonia, Limb joint contracture, Inability to walk, Chorea, Achilles ...	ORPHA:404454
Pachyonychia Congenita	Respiratory distress, Feeding difficulties	ORPHA:2309
Cystinosis, Nephropathic	Skeletal muscle atrophy, Oral-pharyngeal dysphagia, Myopathy, Dysphagia, Polydipsia, Exocrine pan...	OMIM:219800
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Aggressive behavior, Asthma, Self-injurious behavior, Gastroesophageal reflux, Constipation, Atte...	ORPHA:466950
Microlissencephaly-Micromelia Syndrome	Respiratory distress	ORPHA:50810
Parkinson Disease, Late-Onset	Constipation, Short stepped shuffling gait, Dysphagia	OMIM:168600
Pearson Syndrome	Ataxia, Ophthalmoplegia, Chronic diarrhea, Hepatic failure, Steatorrhea, Abnormal heart morpholog...	ORPHA:699
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Gastrostomy tube feeding in infancy, Gastroesophageal reflux, Dysphagia	ORPHA:500144
Pfeiffer Syndrome Type 3	Respiratory distress, Intestinal malrotation, Tracheomalacia	ORPHA:93260
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Stomatitis	OMIM:612852
Methylmalonic Aciduria, Cbla Type	Respiratory distress, Feeding difficulties in infancy, Vomiting	OMIM:251100
Campomelic Dysplasia	Respiratory distress, Neonatal respiratory distress, Apnea, Contracture of the distal interphalan...	OMIM:114290
Beare-Stevenson Cutis Gyrata Syndrome	Palmoplantar cutis laxa, Feeding difficulties in infancy, Respiratory distress	OMIM:123790
Intellectual Disability-Alacrima-Achalasia Syndrome	Achalasia, Dysphagia, Aggressive behavior	ORPHA:289483
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo...	ORPHA:97286
Auriculocondylar Syndrome	Respiratory distress, Feeding difficulties	ORPHA:137888
Congenital Disorder Of Deglycosylation 2	Macroglossia, Dysphagia	OMIM:619775
Cutis Laxa, Autosomal Recessive, Type Iid	Bilateral cryptorchidism, Congestive heart failure, Micropenis, Right bundle branch block, Hypert...	OMIM:617403
Schinzel-Giedion Syndrome	Respiratory distress, Aganglionic megacolon, Recurrent pneumonia, Abnormal heart morphology, Macr...	ORPHA:798
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	Dysphagia	OMIM:607236
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Feeding difficulties, Dysphagia	OMIM:617669
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Dysesthesia, Odynophagia, Malnutrition, Feeding difficulties	ORPHA:221098
Degcags Syndrome	Oral-pharyngeal dysphagia, Premature graying of hair, Gastroesophageal reflux, Atrial septal defe...	OMIM:619488
Lipoid Proteinosis	Dysphagia	ORPHA:530
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Pleural effusion, Unsteady gait, Dysphagia, Gait ataxia	OMIM:254900
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Iron deficiency anemia, Lymphocytosis, Anoperineal fistula, Thrombocytosis, Red...	OMIM:301074
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Vasculitis, Decreased mean platelet volume, Hematochezia, Subconjunctival hemorrhage, Lymphocytos...	OMIM:617718
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Achalasia, Dysphagia	OMIM:300858
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress	ORPHA:1555
Leiomyomatosis, Diffuse, With Alport Syndrome	Dyspnea, Constipation, Vomiting, Dysphagia	OMIM:308940
Coccidioidomycosis	Respiratory distress, Pericarditis, Pneumonia, Peritonitis, Pleural empyema, Cough, Exudative ple...	ORPHA:228123
Kikuchi-Fujimoto Disease	Hepatomegaly, Ataxia, Splenomegaly, Myocarditis, Vasculitis, Anemia, Leukopenia, Enlargement of p...	ORPHA:50918
Cleft Lip/Palate	Feeding difficulties in infancy, Malnutrition, Poor suck, Oral-pharyngeal dysphagia	ORPHA:199306
Cutis Laxa, Autosomal Recessive, Type Iic	Aortic regurgitation, Tricuspid regurgitation, Bilateral cryptorchidism, Right bundle branch bloc...	OMIM:617402
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta...	OMIM:610655
Medullary Thyroid Carcinoma	Diarrhea, Dysphagia	ORPHA:1332
Hypermobile Ehlers-Danlos Syndrome	Nausea and vomiting, Apnea, Malabsorption, Gastrointestinal dysmotility, Anorectal anomaly, Aplas...	ORPHA:285
Hereditary Sensory And Autonomic Neuropathy Type 4	Nail-biting, Pain insensitivity, Somatic sensory dysfunction, Hyperactivity, Impulsivity, Impaire...	ORPHA:642
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Anorexia, Or...	ORPHA:95455
Alport Syndrome	Cough, Dyspnea, Stridor, Vomiting, Dysphagia	ORPHA:63
Khan-Khan-Katsanis Syndrome	Joint contracture, Feeding difficulties, Patent foramen ovale, Dysphagia	OMIM:618460
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hyperactivity, Multiple joint contractures, Hair-pulling, Gastroesophageal reflux, Dysphagia, Abn...	ORPHA:447997
Caribbean Parkinsonism	EMG: myopathic abnormalities, Progressive gait ataxia	ORPHA:97355
Supranuclear Palsy, Progressive, 2	Akinesia, Falls, Gait imbalance, Retrocollis, Dysphagia	OMIM:609454
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Ataxia, Oral-pharyngeal dysphagia, Gastroesophageal reflux, Gait imbalance, Gait disturbance, Con...	OMIM:300966
Osteogenesis Imperfecta	Abnormal endocardium morphology, Somatic sensory dysfunction, Neonatal respiratory distress, Atax...	ORPHA:666
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Rhinitis, Constipation, Hypohidrotic ectodermal dysplasia, Periorbital wrin...	OMIM:305100
Goodpasture Syndrome	Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ...	OMIM:233450
Ear-Patella-Short Stature Syndrome	Respiratory distress, Camptodactyly of finger, Dyspnea, Feeding difficulties, Respiratory failure	ORPHA:2554
Kindler Epidermolysis Bullosa	Camptodactyly of finger, Esophageal stricture, Erythema, Flexion contracture, Inflammation of the...	ORPHA:2908
Birk-Barel Syndrome	Reduced subcutaneous adipose tissue, Feeding difficulties in infancy, Dysphagia	OMIM:612292
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Spastic ataxia, Chronic diarrhea, Feeding difficulties, Dysphagia	OMIM:620358
Gabriele-De Vries Syndrome	Waddling gait, Distal lower limb amyotrophy, Facial hypotonia, Oral-pharyngeal dysphagia, Feeding...	ORPHA:506358
Sturge-Weber Syndrome	Conjunctival telangiectasia, Attention deficit hyperactivity disorder, Dysphagia, Pulmonary embolism	ORPHA:3205
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Prominent scalp veins, Prematurely aged appearance, Pneumoni...	OMIM:264090
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Flexion contracture, Gait disturbance, Myopathy	ORPHA:3042
Sarcoidosis	Heart block, Increased T cell count, Ventricular tachycardia, Nephrocalcinosis, Leukopenia, Tubul...	ORPHA:797
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Pyloric stenosis, Contracture of the distal interphalangeal joint of the fi...	ORPHA:83617
Supranuclear Palsy, Progressive, 1	Akinesia, Falls, Gait imbalance, Retrocollis, Dysphagia	OMIM:601104
Hyperparathyroidism-Jaw Tumor Syndrome	Nausea and vomiting, Peptic ulcer, Episodic abdominal pain, Constipation, Dysphagia, Polydipsia, ...	ORPHA:99880
Wiedemann-Steiner Syndrome	Hyperactivity, Aggressive behavior, Feeding difficulties, Gastroesophageal reflux, Dysphagia, Abn...	ORPHA:319182
Parathyroid Carcinoma	Nausea and vomiting, Peptic ulcer, Episodic abdominal pain, Constipation, Dysphagia, Polydipsia, ...	ORPHA:143
Osteoglophonic Dysplasia	Respiratory distress, Camptodactyly of finger	OMIM:166250
Gamma-Heavy Chain Disease	Dysphagia	ORPHA:100026
Kindler Syndrome	Esophageal stenosis, Telangiectasia of the skin, Dysphagia, Cutaneous photosensitivity, Fragile skin	OMIM:173650
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Waddling gait, Multiple joint contractures, Secundum atrial septal defect, ...	ORPHA:99646
Occipital Horn Syndrome	Gastroparesis, Hiatus hernia, Jaundice, Gastroesophageal reflux, Esophagitis, Dysphagia, Bruising...	ORPHA:198
Dyskeratosis Congenita, Digenic	Gastroesophageal reflux, Dysphagia	OMIM:620040
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Atrioventricular canal defect	OMIM:617088
Doors Syndrome	Respiratory distress, Feeding difficulties, Gastroesophageal reflux, Aspiration pneumonia, Double...	ORPHA:79500
Adult-Onset Dystonia-Parkinsonism	Hypomimic face, Dysphagia	ORPHA:199351
Charge Syndrome	Overriding aorta, Ventricular septal defect, Facial palsy, Secundum atrial septal defect, Esophag...	OMIM:214800
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Gastroparesis, Feeding difficulties in infancy, Gastrointestinal dysmotility, Chronic diarrhea, A...	ORPHA:500150
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Neonatal respiratory distress, Erythema, Respiratory acidosis, Fragile skin	OMIM:614748
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Feeding difficulties, Cardiomyopathy, Difficulty walking, Atrial septal defect	ORPHA:480880
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress	OMIM:119600
Mowat-Wilson Syndrome	Bicuspid aortic valve, Gastrointestinal dysmotility, Flexion contracture, Vomiting, Abnormal repe...	ORPHA:2152
Paroxysmal Nocturnal Hemoglobinuria	Esophageal spasms, Pulmonary embolism, Dyspnea, Jaundice, Odynophagia, Episodic abdominal pain, D...	ORPHA:447
Alström Syndrome	Hepatomegaly, Short stature, Portal hypertension, Congestive heart failure, Splenomegaly, Dilated...	ORPHA:64
Liver Disease, Severe Congenital	Hepatomegaly, Recurrent urinary tract infections, Hypospadias, Cardiomegaly, Biliary hyperplasia,...	OMIM:619991
Hyperoxaluria, Primary, Type I	Acrocyanosis, Cutis marmorata	OMIM:259900
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Broad-based gait, Bicuspid aortic valve, Abnormal pulmonary valve morphology, Aganglionic megacol...	ORPHA:261537
Genitopatellar Syndrome	Hip contracture, Ventricular septal defect, Malrotation of small bowel, Feeding difficulties, Kne...	OMIM:606170
Igg4-Related Thyroid Disease	Dysphagia	ORPHA:64744
Faundes-Banka Syndrome	Feeding difficulties in infancy, Chronic constipation, Gastroesophageal reflux, Dysphagia, Flexio...	OMIM:619376
Multiple Osteochondromas	Somatic sensory dysfunction, Intestinal obstruction, Pneumothorax, Dysphagia, Hemothorax	ORPHA:321
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Broad-based gait, Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morp...	ORPHA:261552
Proteus Syndrome	Decreased muscle mass, Pulmonary embolism, Abnormal subcutaneous fat tissue distribution, Myofibr...	ORPHA:744
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Ventricular septal defect, Feeding difficulties, Attention deficit hyperactivity disorder, Dyspha...	OMIM:619522
Homozygous Familial Hypercholesterolemia	Abnormal tendon morphology, Dyspnea, Tendon xanthomatosis, Myocardial steatosis	ORPHA:391665
Pmm2-Cdg	Respiratory distress, Pericarditis, Multiple joint contractures, Ataxia, Pericardial effusion, Ab...	ORPHA:79318
Coffin-Lowry Syndrome	Rectal prolapse, Acrocyanosis, Cutis marmorata	OMIM:303600
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Feeding difficulties, Dysphagia	OMIM:618367
Ulbright-Hodes Syndrome	Respiratory distress, Respiratory failure, Pneumothorax	ORPHA:3404
Lacrimoauriculodentodigital Syndrome	Xerostomia, Dysphagia	ORPHA:2363

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 Ldb3

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 Ldb3.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Expression of LIM domain-binding 3 (LDB3), a striated muscle Z-band alternatively spliced PDZ-motif protein in the nervous system.	Scientific reports (January 2023)	Ldb3^{tm2a(EUCOMM)Hmgu}	PMC9822979
Myopathy associated LDB3 mutation causes Z-disc disassembly and protein aggregation through PKCα and TSC2-mTOR downregulation.	Communications biology (March 2021)	Ldb3^{tm2a(EUCOMM)Hmgu}	33742095

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Ldb3^{tm2b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Ldb3^{tm2e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Ldb3^{tm2a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

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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Gene: Ldb3 MGI:1344412

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

MicroCT E14.5-E15.5

X-ray

MicroCT E18.5

Embryo LacZ

Human diseases caused by Ldb3 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data