Gene Summary

Name:
v-raf-leukemia viral oncogene 1
Synonyms:
Craf1,  v-Raf,  6430402F14Rik,  c-Raf,  Raf-1,  sarcoma 3611 oncogene

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Raf1tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal lens morphology Raf1tm1b(EUCOMM)Wtsi HET Early adult 1.20×10-05
cataract Raf1tm1b(EUCOMM)Wtsi HET Early adult 1.20×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Human diseases caused by Raf1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases predicted to be associated to Raf1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Cataract 44
Developmental cataract OMIM:616509
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Aniridia 3
Cataract OMIM:617142
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Ectopia lentis ORPHA:2084
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Trichomegaly
Cataract OMIM:190330
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Cataract 7
Developmental cataract OMIM:115660
Craniosynostosis 1
Oxycephaly, Aortic valve stenosis, Craniosynostosis, Systolic heart murmur, Dolichocephaly, Promi... OMIM:123100
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Galactosemia Iv
Cataract OMIM:618881
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Endocardial fibroelastosis, Impaired myocardial ... OMIM:607482
Nathalie Syndrome
Cataract ORPHA:2663
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Cardiomyopathy, Dilated, 2A
Myofiber disarray, Increased left ventricular end-diastolic volume, Cardiomyocyte hypertrophy, Di... OMIM:611880
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:604765
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Foveal Hypoplasia 1
Presenile cataracts OMIM:136520
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular no... OMIM:601493
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Cataract 47
Cataract, Microcornea OMIM:612018
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Cardiomyopathy, Dilated, 1L
Reduced systolic function, Sudden cardiac death, Increased left ventricular end-diastolic volume,... OMIM:606685
Barth Syndrome
Abnormality of neutrophils, Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Cataract 42
Developmental cataract OMIM:115900
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Dilated cardiomyopathy, Congestive heart failure, Sudden card... OMIM:605362
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613286
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia, Dilated cardiomyopathy OMIM:611283
Cardiomyopathy, Dilated, 1W
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:613122
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Cardiomyopathy, Dilated, 1Dd
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic... OMIM:613172
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular hypertrophy, Left ventricular n... OMIM:612158
Galactosemia Ii
Cataract OMIM:230200
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Cataract 1, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... OMIM:116200
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Decreased body weight, Microcephaly, Dilated cardiomyopathy OMIM:618097
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function ORPHA:217622
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Microcephaly-Cardiomyopathy
Microcephaly, Dilated cardiomyopathy OMIM:251220
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 1Ee
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613252
X-Linked Retinoschisis
Cataract ORPHA:792
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Abnormality of the shoulder girdle musculature, Left ventricular hypertrophy, Quadriceps muscle w... ORPHA:206546
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure OMIM:613642
Cardiomyopathy, Dilated, 1U
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613694
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Peroneal muscle weakness, Decreased cervical spine flexion due to contractures of posterior cervi... OMIM:181350
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula... OMIM:302045
Myopathy, Distal, 1
Amyotrophy of ankle musculature, Toe extensor amyotrophy, Rimmed vacuoles, Type 1 muscle fiber pr... OMIM:160500
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... OMIM:615396
Proximal Myotonic Myopathy
Cataract ORPHA:606
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Dilated cardiomyopathy, ... OMIM:611615
Familial Isolated Dilated Cardiomyopathy
Abnormality of neutrophils, Dilated cardiomyopathy, Myopathy ORPHA:154
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Failure to thrive, Cardiomyopathy OMIM:613752
Microcephaly-Cardiomyopathy Syndrome
Ventricular septal defect, Microcephaly, Dilated cardiomyopathy ORPHA:2515
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... OMIM:600884
Cardiomyopathy, Dilated, 1Kk
Mitral regurgitation, Left ventricular hypertrophy, Increased left ventricular end-diastolic volu... OMIM:615248
Cataract 15, Multiple Types
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract OMIM:615274
Cardiomyopathy, Dilated, 1Z
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure OMIM:611879
Heart-Hand Syndrome, Slovenian Type
Supraventricular arrhythmia, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electroph... ORPHA:168796
Mitochondrial Complex I Deficiency, Nuclear Type 29
Failure to thrive, Hypertrophic cardiomyopathy, Abnormal heart morphology OMIM:618250
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy OMIM:271320
His Bundle Tachycardia
Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Pelvic girdle muscle atrophy, Muscular dystrophy, Limb-girdle muscle weakness, Calf muscle pseudo... OMIM:604286
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Left Ventricular Noncompaction 8
Mitral regurgitation, Left ventricular noncompaction, Arrhythmia, Dilated cardiomyopathy, Left ve... OMIM:615373
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Glycogen Storage Disease Due To Lamp-2 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:34587
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Decreased body weight, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weak... OMIM:300580
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Intrinsic hand muscle atrophy, Finger flexor weakness, Proximal muscle weakness in lower limbs, W... ORPHA:63273
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Band keratopathy, Corneal dystrophy OMIM:300779
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Dermoids Of Cornea
Corneal opacity OMIM:304730
Cardiomyopathy, Dilated, 1V
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613697
Cardiomyopathy, Dilated, 1K
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure OMIM:605582
Placental Insufficiency
Abnormal placenta morphology, Preeclampsia, Small placenta, Eclampsia, Abnormal umbilical cord bl... ORPHA:439167
Ethanolaminosis
Cardiomegaly OMIM:227150
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia ORPHA:1068
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Cirrhosis, Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy, Conges... OMIM:602390
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Fiber type grouping, Interosseus muscle atrophy, Dilated cardiomyopathy, Thenar muscle atrophy, D... OMIM:619903
Neonatal Lupus Erythematosus
Abnormality of the liver, Macrocephaly, Hepatomegaly, Neutropenia, Splenomegaly, Arrhythmia, Apla... ORPHA:398124
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... ORPHA:34515
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Flexion contracture, Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fibe... OMIM:300718
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Macrocephaly/Autism Syndrome
Hepatomegaly, Splenomegaly, Frontal bossing, Postnatal macrocephaly, Obesity, Biparietal narrowing OMIM:605309
Cardiomyopathy, Dilated, 1Bb
Left bundle branch block, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:612877
Cataract 3, Multiple Types
Developmental cataract, Nuclear pulverulent cataract, Cerulean cataract, Sutural cataract OMIM:601547
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Muscular Dystrophy, Congenital, Megaconial Type
Microcephaly, Muscular dystrophy, Congenital muscular dystrophy, Dilated cardiomyopathy, Facial p... OMIM:602541
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Myofiber disarray, M... OMIM:619897
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular block, Di... OMIM:601419
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Limb-gir... OMIM:612937
Myopathy, Myosin Storage, Autosomal Recessive
Right axis deviation, Scapuloperoneal amyotrophy, Calf muscle hypertrophy, EMG: myopathic abnorma... OMIM:255160
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Scapular winging, Dilated cardi... ORPHA:206559
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 41
Nuclear cataract OMIM:116400
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Triangular tongue, Dilated cardiomyopa... OMIM:616827
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Hypertension, Left bundle ... ORPHA:563
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Dila... ORPHA:263494
Barth Syndrome
Failure to thrive, Granulocytopenia, Deeply set eye, Tricuspid regurgitation, Arrhythmia, Increas... OMIM:302060
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract OMIM:604219
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Dilated cardiomyopathy OMIM:618189
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Flexion contracture, EMG: myopathic abnormalities, Limb-girdle muscle atrophy, Limb-girdle muscle... OMIM:608099
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... OMIM:617319
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Intracranial hemorrhage, Microcephaly, Heart murmur, Ventricular septal def... ORPHA:163979
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Anemia, Erythroid hypoplasia OMIM:618312
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Adult-Onset Nemaline Myopathy
Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Increased variability in musc... ORPHA:171442
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect... OMIM:617912
Nathalie Syndrome
Cataract OMIM:255990
Cardiac Lipidosis, Familial
Microcephaly, Cardiomyopathy, Congestive heart failure OMIM:212080
Hyperferritinemia With Or Without Cataract
Pulverulent cataract, Nuclear cataract OMIM:600886
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor, Hepatomegaly, Splenomegaly ORPHA:46532
Macrocephaly, Benign Familial
Dolichocephaly, Frontal bossing, Macrocephaly, Biparietal narrowing OMIM:153470
Nemaline Myopathy 3
Slender build, Nemaline bodies, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, D... OMIM:161800
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Myopathy OMIM:610140
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Hepatomegaly, Dilated cardiomyopathy, Microcytic anemia, Hepatic steatosis, Failure... OMIM:618805
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Distal amyotrophy, Cardiomyopathy, Achilles tendon contracture, Muscle fib... OMIM:609200
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy OMIM:615235
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Salih Myopathy
Flexion contracture, Calf muscle hypertrophy, Arrhythmia, Dilated cardiomyopathy, Facial palsy, C... OMIM:611705
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Cor triatriatum, Splenomegaly, Erythroid hypoplasia, Intermittent thrombocytopenia,... OMIM:612541
Bardet-Biedl Syndrome 2
Obesity, Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ataxia, Microcephaly, Abnormal pyramidal sign, Ventricular septal... OMIM:614947
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Pulmonic stenosis, Mitral regurgitation, Shallow orbits, Ventricular septa... OMIM:277600
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Gm1-Gangliosidosis, Type I
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Frontal bossing, Dilated cardiomyopathy, Abno... OMIM:230500
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Sudden cardiac death, Noncompaction cardiomyopathy, Dilated car... OMIM:610198
Dk1-Cdg
Failure to thrive, Arrhythmia, Cardiomyocyte hypertrophy, Interstitial cardiac fibrosis, Dilated ... ORPHA:91131
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Myocardial fibrosis, Left ventricular noncompaction cardiomyopathy, Right atrial enlargement, Hep... OMIM:619424
Aniridia 2
Iris coloboma, Lens subluxation, Cataract, Aniridia OMIM:617141
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Cardiomyopathy, Familial Restrictive, 3
Cardiomyopathy OMIM:612422
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:605676
Retinohepatoendocrinologic Syndrome
Pallor, Degenerative liver disease OMIM:268040
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia... OMIM:607685
Immunodeficiency 91 And Hyperinflammation
Failure to thrive, Hepatomegaly, Neutrophilia, Hemophagocytosis, Pulmonary hemorrhage, Hepatosple... OMIM:619644
Myopathy, Centronuclear, 5
Hip contracture, Facial palsy, Dilated cardiomyopathy OMIM:615959
8P23.1 Microdeletion Syndrome
Abnormal cardiac septum morphology, Hypoplastic left heart, Congenital diaphragmatic hernia, Atri... ORPHA:251071
Intellectual Disability, Buenos-Aires Type
Abnormal cardiac septum morphology, Microcephaly, Fine hair, Spastic gait, Abnormal calvaria morp... ORPHA:3079
Congenital Muscular Dystrophy, Fukuyama Type
Plagiocephaly, Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Dolichocephaly, Musc... ORPHA:272
Mitochondrial Dna Depletion Syndrome 11
Microcephaly, Arrhythmia, Dilated cardiomyopathy, Facial palsy, Generalized amyotrophy, Proximal ... OMIM:615084
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... OMIM:604772
Isobutyryl-Coa Dehydrogenase Deficiency
Pulmonic stenosis, Dilated cardiomyopathy ORPHA:79159
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... OMIM:614470
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macrocephaly, Spastic tetraplegia, Cardiomegaly, Congestive heart failure OMIM:300886
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Cardiomyopathy, Familial Hypertrophic, 15
Myofiber disarray, Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricu... OMIM:613255
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Myoclonus, Tremor, Cardiomyopathy, Dystonia OMIM:619651
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Left ventricular noncompaction, Increased intramyocellular lipid droplets, R... OMIM:252011
Danon Disease
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, EMG: myopathic abnormal... OMIM:300257
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Cataract OMIM:614292
Cataract 16, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:613763
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Monosomy 18Q
Absence of the pulmonary valve, Slender build, Failure to thrive, Low anterior hairline, Aortic v... ORPHA:1600
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Myoclonus, Frequent falls, Tremor, Cardiomyopathy, Dystonia OMIM:619647
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Flexion contracture, Splenomegaly, Microcephaly, Hypertelorism, Cardiomyopathy OMIM:608540
Gne Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... ORPHA:602
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... OMIM:618654
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Bradycardia, Flexion contracture, Hypertrophic cardiomyopathy OMIM:618815
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... OMIM:619371
Cataract 11, Multiple Types
Cataract OMIM:610623
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... OMIM:601494
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Abnormal mitral valve morphology, Generalized hirsutism, Atrial septal defect, Thick eyebrow, Mic... ORPHA:1292
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Pulmonic stenosis, Mitral regurgitation, Shallow orbits, Ventricular septa... OMIM:608328
Retinitis Pigmentosa 84
Cataract OMIM:618220
Dysequilibrium Syndrome
Cataract ORPHA:1766
Cataract 30, Multiple Types
Diffuse nuclear cataract, Pulverulent cataract, Posterior polar cataract OMIM:116300
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:614299
Cataract 5, Multiple Types
Nuclear cataract, Zonular cataract, Anterior polar cataract, Lamellar cataract, Pulverulent cataract OMIM:116800
Laing Early-Onset Distal Myopathy
Abnormality of the calf musculature, Proximal muscle weakness in lower limbs, EMG: myopathic abno... ORPHA:59135
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Microspherophakia, Megalocornea, Iridodonesis, Deep anterior chamber, Ectopia lentis OMIM:251750
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
15Q14 Microdeletion Syndrome
Ventricular septal defect, Microcephaly, Atrial septal defect, Biparietal narrowing ORPHA:261190
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Left atrial enla... OMIM:611556
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... OMIM:601154
Myopathy, Congenital, With Fiber-Type Disproportion
Failure to thrive, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Dilated car... OMIM:255310
Familial Dyskinesia And Facial Myokymia
Limb hypertonia, Dilated cardiomyopathy, Facial myokymia, Congestive heart failure ORPHA:324588
Coccidioidomycosis
Pancreatitis, Peritonitis, Eosinophilia, Mediastinal lymphadenopathy, Abnormality of the spleen, ... ORPHA:228123
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Dilated cardiomyopathy, Congestive heart failure OMIM:614672
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Supraventricular arrhythmia, Leg muscle stiffness, Distal lower limb muscle weakness, Cardiomyopathy ORPHA:320360
Episodic Ataxia, Type 1
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia OMIM:160120
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Weakness of facial musculature, Microcephaly, Arrhythmia, Ragged-red muscle fibers, Dilated cardi... ORPHA:352447
Cataract 21, Multiple Types
Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Microcornea OMIM:610202
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal muscle glycogen content, Failure to thrive, Hepatomegaly, Flexion contracture, Cirrhosis... ORPHA:367
Dystonia 31
Leg dystonia, Parkinsonism, Craniofacial dystonia, Writer's cramp, Generalized dystonia, Arm dyst... OMIM:619565
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Wide nasal bridge ORPHA:2229
Combined Oxidative Phosphorylation Deficiency 51
Severe short stature, Aspiration pneumonia, Optic atrophy, Respiratory failure, Neonatal respirat... OMIM:619057
Cardiomyopathy, Dilated, 1Ii
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Increased left ventricular... OMIM:615184
Myopathy, Distal, 4
Abnormality of the calf musculature, Distal upper limb amyotrophy, Distal lower limb amyotrophy, ... OMIM:614065
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Mitochondrial Complex I Deficiency, Nuclear Type 30
Intrauterine growth retardation, Respiratory failure, Neonatal death OMIM:301021
Loeffler Endocarditis
Right bundle branch block, Weight loss, Pericarditis, Myocardial fibrosis, Abnormal morphology of... ORPHA:75566
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ragged-red muscle fibers, Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy, Cong... ORPHA:1349
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Macrovesicular hepatic steatosis, Dilated cardiomyopathy, Ventricular tachycardia, ... OMIM:600649
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Cataract 17, Multiple Types
Pulverulent cataract, Developmental cataract, Nuclear cataract, Microcornea OMIM:611544
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Abnormal left ventricular function, Intrinsic hand muscle atrophy, Limb-girdle muscle weakness, F... ORPHA:98912
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
1Q44 Microdeletion Syndrome
Abnormal cardiac septum morphology, Microcephaly, Frontal bossing, Synophrys, Biparietal narrowing ORPHA:238769
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea OMIM:269400
Joubert Syndrome
Ataxia, Highly arched eyebrow, Situs inversus totalis, Tremor, Oculomotor apraxia, Biparietal nar... ORPHA:475
Edict Syndrome
Microcornea, Astigmatism, Hypoplasia of the iris, Keratoconus, Developmental cataract OMIM:614303
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Severe intrauterine growth retardation, Short stature, Severe postnatal growth retardation, Small... ORPHA:73272
Fetal Alcohol Syndrome
Generalized hirsutism, Atrial septal defect, Congenital diaphragmatic hernia, Microcephaly, Bipar... ORPHA:1915
Polymyositis
Abnormal mitral valve morphology, Abnormal muscle fiber morphology, Hepatomegaly, Arrhythmia, Vas... ORPHA:732
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Deeply set eye, Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Hypertelorism, Ischemi... ORPHA:280679
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Dilated cardiomyopathy OMIM:619688
Lig4 Syndrome
Telangiectasia of the skin, Low anterior hairline, Hepatomegaly, Microcephaly, Brachycephaly, Bip... ORPHA:99812
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98855
Combined Oxidative Phosphorylation Deficiency 17
Failure to thrive, Microcephaly, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:615440
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect, Biparietal narrowing, Abnormal hair pattern ORPHA:1770
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Mitral regurgitation, Left ventricular hypertrophy, Left v... OMIM:619167
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Muscular ... ORPHA:300751
Distal Nebulin Myopathy
Slender build, Nemaline bodies, Weakness of facial musculature, EMG: myopathic abnormalities, Foo... ORPHA:399103
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Deeply set eye, Cerebral hemorrhage, Abnormal left ventricle morphology, Dilated cardiomyopathy, ... OMIM:300845
Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98853
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... OMIM:604145
Joubert Syndrome With Ocular Defect
Ataxia, Highly arched eyebrow, Dextrocardia, Tremor, Oculomotor apraxia, Biparietal narrowing ORPHA:220493
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
3Q29 Microduplication Syndrome
Macrocephaly, Craniosynostosis, Camptodactyly of toe, Microcephaly, Ventricular septal defect, Ob... ORPHA:251038
Cardiofaciocutaneous Syndrome
Macrocephaly, Atrial septal defect, Sparse hair, Brittle hair, Pulmonic stenosis, Aplasia/Hypopla... ORPHA:1340
Spinal Muscular Atrophy, Type I
Death in childhood, Respiratory insufficiency, Respiratory failure, Recurrent respiratory infections OMIM:253300
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... OMIM:619747
Cataract 31, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract OMIM:605387
16Q24.3 Microdeletion Syndrome
Mitral regurgitation, Highly arched eyebrow, Abnormal hair pattern, Ventricular septal defect, Fr... ORPHA:261250
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormality of the pancreas, Polyhydramnios, Oligohydramnios, ... ORPHA:3032
Coats Disease
Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Cataract ORPHA:190
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomyopathy OMIM:609016
Naxos Disease
Abnormal heart morphology, Prolonged QRS complex, Premature ventricular contraction, Right ventri... OMIM:601214
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Macrocephaly, Atrial septal defect, Hepatomegaly, Jaundice, Small for gestational age, Tachycardi... ORPHA:26793
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Thick eyebrow, Tricuspid regurgitation, Biparietal narrowing, Absent eyelashes, Highly arched eye... ORPHA:228396
X-Linked Intellectual Disability, Cabezas Type
Macrocephaly, Cachexia, Microcephaly, Camptodactyly of finger, Abnormal hair pattern, Tremor, Syn... ORPHA:85293
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Atrial arrhythmia, Aortic valve stenosis, Tendon rupture, R... ORPHA:85451
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Failure to thrive, Hepatomegaly, Leukocytosis, Splenomegaly, Lymphadenitis, Cholestasis, Hematoch... OMIM:615895
Vici Syndrome
Failure to thrive, Left ventricular hypertrophy, Microcephaly, Dilated cardiomyopathy, Abnormalit... OMIM:242840
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... OMIM:618052
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... ORPHA:79262
Anterior Segment Dysgenesis 1
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... OMIM:107250
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Left atrial enlar... OMIM:115210
Sandhoff Disease
Failure to thrive, Macrocephaly, Hepatomegaly, Splenomegaly, Congestive heart failure ORPHA:796
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Limb hypertonia, Dilated cardiomyopathy, Facial myokymia, Congestive heart failure OMIM:606703
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Infantile Sialic Acid Storage Disease
Failure to thrive, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Ascites, Cardiomegaly, Con... OMIM:269920
Hemochromatosis Type 2
Abnormality of endocrine pancreas physiology, Dilated cardiomyopathy, Congenital hepatic fibrosis ORPHA:79230
Leg, Absence Deformity Of, With Congenital Cataract
Developmental cataract, Progressive cataract OMIM:246000
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Weill-Marchesani Syndrome 4
Phakodonesis, Iridodonesis, Ectopia lentis OMIM:613195
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Microcephaly, Hepatic steatosis, Cardiomyopathy OMIM:615119
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Microcephaly, Babinski sign, Myoclonus, Distal amyotrophy, Frequent falls, Tremor, Gait a... OMIM:607317
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Mitral regurgitation, Sudd... OMIM:604169
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Anisocytosis, Jaundice, Failure to thrive in infancy, Splenome... ORPHA:231226
Mcleod Syndrome
Hepatomegaly, Splenomegaly, Acanthocytosis, Rhabdomyolysis, Dilated cardiomyopathy, Atrial fibril... OMIM:300842
Mucolipidosis Type Iv
Microcephaly, Aplasia/Hypoplasia of the abdominal wall musculature, Biparietal narrowing, Ataxia ORPHA:578
Non-Distal Monosomy 10Q
Ataxia, Biparietal narrowing, Synophrys ORPHA:1581
Muscular Dystrophy, Duchenne Type
Hamstring contractures, Flexion contracture, Calf muscle hypertrophy, Muscular dystrophy, Arrhyth... OMIM:310200
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Failure to thrive, Atrial septal defect, P... OMIM:619343
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Ataxia, Flexion contracture, Babinski sign, Tremor, Spasticity, Skeletal muscle atrophy OMIM:611105
Pellagra-Like Syndrome
Cataract OMIM:260650
Myopathy, Distal, 7, Adult-Onset, X-Linked
Myofiber disarray, Proximal muscle weakness in lower limbs, Scapular winging, Increased variabili... OMIM:301075
Retinitis Pigmentosa 40
Cataract OMIM:613801
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia, Abnormality of the liver OMIM:206100
Retinitis Pigmentosa 23
Posterior subcapsular cataract OMIM:300424
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Angina pectori... ORPHA:3092
Dyskeratosis Congenita, Autosomal Dominant 2
Failure to thrive, Neutropenia, Microcephaly, Leukopenia, Aplastic anemia, Dilated cardiomyopathy... OMIM:613989
Acyl-Coa Dehydrogenase 9 Deficiency
Failure to thrive, Cerebellar hemorrhage, EMG: myopathic abnormalities, Sudden cardiac death, Thr... ORPHA:99901
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor, Growth delay, Hepatomegaly, Splenomegaly OMIM:615234
Holoprosencephaly, Recurrent Infections, And Monocytosis
Failure to thrive, Microcephaly, Monocytosis, Brachycephaly OMIM:610680
Spinocerebellar Ataxia 43
Ataxia, Limb ataxia, Rigidity, Distal amyotrophy, Tremor, Gait ataxia OMIM:617018
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Heart murmur, ... ORPHA:860
Cardiomyopathy, Familial Hypertrophic, 28
Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruction, Concentric hypert... OMIM:619402
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Anisopoikilocyt... ORPHA:231214
Codas Syndrome
Ventricular septal defect, Broad skull, Atrial septal defect, Atrioventricular canal defect OMIM:600373
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Frontal bossing, Long eyelashes, Synophrys, Pulmonary arterial hypertension, Failur... OMIM:619064
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Flexion contracture, Microcephaly, Limb-girdle muscle weakness, Muscular dystrophy, Cardiomyopathy OMIM:609308
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thrombocyt... OMIM:611126
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Fatty replacement of skeletal muscle, Cardiomyopathy, Myopathy OMIM:255100
Cataract 33, Multiple Types
Cortical cataract, Lamellar cataract, Nuclear cataract OMIM:611391
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Hypertonia, Microcephaly, Abnormal eyelash morphology, Biparietal narrowing ORPHA:2518
Joubert Syndrome With Hepatic Defect
Ataxia, Macrocephaly, Hepatomegaly, Splenomegaly, Highly arched eyebrow, Tremor, Portal hypertens... ORPHA:1454
Linear Skin Defects With Multiple Congenital Anomalies 3
Failure to thrive, Dilated cardiomyopathy, Ventricular fibrillation, Ventricular tachycardia, Car... OMIM:300952
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Microcephaly, Thrombocytopenia, Cardiomyopathy ORPHA:67048
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... OMIM:615916
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibrosis, Anemia, Cardiomyopathy, Congestive heart... OMIM:613313
Orofaciodigital Syndrome Type 6
Failure to thrive, Ataxia, Highly arched eyebrow, Frontal bossing, Tremor, Biparietal narrowing, ... ORPHA:2754
Silver-Russell Syndrome Due To A Point Mutation
Small placenta, Postnatal growth retardation, Oligohydramnios, Intrauterine growth retardation ORPHA:397590
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Cataract OMIM:212540
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane ORPHA:1067
Attrv30M Amyloidosis
Arrhythmia, Weight loss, Cardiomegaly, Cardiomyopathy, Atrioventricular block ORPHA:85447
Immunodeficiency 95
Respiratory distress, Recurrent viral upper respiratory tract infections, Recurrent viral pneumon... OMIM:619773
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal stromal edema, Descemet Membrane Folds, Corneal degeneration, Corneal dystrophy, Corneal ... OMIM:136800
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... OMIM:610921
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Rhabdomyolysis, Ankle flexion contracture, Dilated cardiomyopathy OMIM:618120
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Microcephaly, Hypertrophic cardiomyopathy, Failure to thrive OMIM:617228
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis, Hypertrophic cardiomyopathy, M... OMIM:618234
Coronary Arterial Fistula
Bacterial endocarditis, Angina pectoris, Bicuspid aortic valve, Congestive heart failure, Atrial ... ORPHA:2041
Isolated Aniridia
Peters anomaly, Cataract, Aniridia ORPHA:250923
Cataract 24
Anterior polar cataract OMIM:601202
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea OMIM:611722
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Abnormal left ventricular function, Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, Pel... OMIM:607155
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Developmental And Epileptic Encephalopathy 35
Microcephaly, Cardiomyopathy OMIM:616647
Lethal Congenital Contracture Syndrome 2
Ventricular septal defect, Dilated cardiomyopathy, Skeletal muscle atrophy, Arthrogryposis multip... OMIM:607598
Muscular Dystrophy, Becker Type
Muscular dystrophy, Arrhythmia, Calf muscle pseudohypertrophy, Abnormal EKG, Cardiomyopathy OMIM:300376
Andersen-Tawil Syndrome
Torsade de pointes, Abnormal T-wave, Premature ventricular contraction, Polymorphic ventricular t... ORPHA:37553
Mulibrey Nanism
Myocardial fibrosis, Congestive heart failure, Hepatomegaly, Dolichocephaly, Wide nasal bridge, F... OMIM:253250
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Camptodactyly of finger, Biparietal narrowing, Abnormal calvaria morphology, Low posterior hairline ORPHA:1323
Malonyl-Coa Decarboxylase Deficiency
Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy OMIM:248360
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia, Respiratory failure OMIM:619887
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Macrocephaly OMIM:611808
Cardiomyopathy, Familial Hypertrophic, 4
Hepatomegaly, Muscular ventricular septal defect, Sudden cardiac death, Right bundle branch block... OMIM:115197
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Dystonia, Abnormality of extrapy... OMIM:614561
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Cardiomegaly, Craniosynostosis ORPHA:88643
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Giant Axonal Neuropathy 2, Autosomal Dominant
Cardiomyopathy, Distal amyotrophy OMIM:610100
Joubert Syndrome With Renal Defect
Ataxia, Biparietal narrowing, Tremor, Oculomotor apraxia, Highly arched eyebrow ORPHA:220497
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Abnormal left ventricular function, Flexion contracture, Macroglossia, Microcephaly, Muscular dys... OMIM:613155
Linear Skin Defects With Multiple Congenital Anomalies 2
Atrial septal defect, Microcephaly, Tetralogy of Fallot, Short nose, Ventricular hypertrophy, Hyp... OMIM:300887
9Q31.1Q31.3 Microdeletion Syndrome
Bicuspid aortic valve, Renovascular hypertension, Aortic regurgitation, Dilated cardiomyopathy, O... ORPHA:401923
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Failure to thrive, Hypertelorism, Hypertrophic cardiomyopathy, Mi... OMIM:618378
Carnitine Deficiency, Systemic Primary
Failure to thrive, Hepatomegaly, Reduced muscle carnitine level, Endocardial fibroelastosis, Decr... OMIM:212140
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Tricuspid regurgitation, Mitral regurgitation, Sudden cardiac death, Left ... OMIM:613426
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal cardiac septum morphology, Macrocephaly, Mitral regurgitation, Ventricular septal defect... ORPHA:83473
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure, Intrauterine growth retardation ORPHA:1832
Mosaic Trisomy 9
Atrial septal defect, Camptodactyly of finger, Microcephaly, Prominent occiput, Endocardial fibro... ORPHA:99776
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Congenital Arthrogryposis With Anterior Horn Cell Disease
Neonatal death, Downslanted palpebral fissures, Respiratory failure, Respiratory insufficiency du... OMIM:611890
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... ORPHA:98807
Atrial Standstill
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... ORPHA:1344
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive, Small for gestational age, Arrhythmia, Cholestasis, Rhabdomyolysis, Dilated ca... OMIM:609015
Glycogen Storage Disease Iii
Deeply set eye, Hepatomegaly, Distal amyotrophy, Hepatic fibrosis, Ventricular hypertrophy, Midfa... OMIM:232400
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Dolichocephaly, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:618425
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Intrauterine growth retardation, Hepatomegaly, Splenomegaly, Pallor, Nonimmune hy... OMIM:266200
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Microcephaly, Hepatic steatosis, Cardiomyopathy, Myopathy ORPHA:26792
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Short stature, Splenomegaly, Pallor, Growth delay, Jaundice OMIM:615631
Autosomal Recessive Spastic Paraplegia Type 69
Cataract ORPHA:401830
Kahrizi Syndrome
Iris coloboma, Cataract OMIM:612713
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Skeletal muscle hypertrophy, Proximal muscle weakness in lower li... OMIM:619566
Short Stature, Microcephaly, And Endocrine Dysfunction
Deeply set eye, Lymphopenia, Hypotelorism, Long nose, Microcephaly, Truncal obesity, Dilated card... OMIM:616541
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Rod-cone dystrophy, Respiratory insufficiency, Neonatal death, Retinal atrophy, Respirator... OMIM:610127
Alpha-B Crystallin-Related Late-Onset Myopathy
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... ORPHA:399058
Acute Peripheral Arterial Occlusion
Supraventricular tachycardia, Leukocytosis, Absent ankle pulse, Myocardial infarction, Abnormalit... ORPHA:90064
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function OMIM:619492
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Splenomegaly, Pallor, Preeclampsia, Hydrops fetalis, Polyhydramnios, Oligohydramnios ORPHA:163596
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Patent foramen ovale, H... OMIM:618652
Distal Myotilinopathy
Multiple joint contractures, EMG: myopathic abnormalities, Distal amyotrophy, Abnormal muscle fib... ORPHA:98911
Noonan Syndrome 11
Atrial septal defect, Relative macrocephaly, Pulmonic stenosis, Hypertelorism, Hypertrophic cardi... OMIM:618499
Tetraploidy
Microcephaly, Biparietal narrowing ORPHA:3305
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Vocal cord paresis, Distal amyotrophy OMIM:158580
Isotretinoin Syndrome
Biparietal narrowing ORPHA:2305
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Congenital Toxoplasmosis
Hepatomegaly, Microcephaly, Thrombocytopenia, Ascites, Anemia, Lymphadenopathy, Jaundice, Failure... ORPHA:858
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, Acute myeloid leukemia OMIM:616871
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Sparse hair, Alopecia, Microcephaly, Turricephaly, Biparietal narrowing ORPHA:1005
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... OMIM:608751
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Respiratory failure OMIM:208081
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Cough, Respiratory failure requiring assisted ventilation, Dyspnea, Respira... ORPHA:90117
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:116600
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, B lymphocytopenia... OMIM:619313
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Respiratory insufficiency, Reduced maximal inspiratory pressure, Abnormal... ORPHA:266
Familial Atrial Myxoma
Bacterial endocarditis, Tricuspid regurgitation, Cholestasis, Heart murmur, Pulmonic valve myxoma... ORPHA:615
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Microcephaly, Hypoglycosylation of alpha-dystroglycan, Cardiomyopathy, Muscular dystrophy OMIM:615352
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Tachycardia, Dilated cardiomyopathy, Syncope OMIM:615821
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Bone-marrow foam cells, Ascites, Skeletal mus... OMIM:256550
Hypermethioninemia Due To Adenosine Kinase Deficiency
Failure to thrive, Macrocephaly, Atrial septal defect, Pulmonic stenosis, Cholestasis, Frontal bo... OMIM:614300
Trimethylaminuria
Splenomegaly, Tachycardia, Neutropenia, Hypertension, Anemia OMIM:602079
Blepharoptosis, Myopia, And Ectopia Lentis
Ectopia lentis OMIM:110150
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... ORPHA:439
Hurler-Scheie Syndrome
Hepatomegaly, Splenomegaly, Abnormality of the tonsils, Abnormal heart valve morphology, Cardiomy... ORPHA:93476
Neutrophilic Dermatosis, Acute Febrile
Anemia, Dilated cardiomyopathy, Small vessel vasculitis OMIM:608068
Atrial Standstill 1
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Endocardial fibroela... OMIM:108770
Idiopathic Hypereosinophilic Syndrome
Supraventricular arrhythmia, Pancreatitis, Neutrophilia, Vasculitis in the skin, Cervical lymphad... ORPHA:3260
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Failure to thrive, Flexion contracture, Facial palsy, Cardiomyopathy, Myopathy OMIM:201470
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Thigh hypertrophy, Left ventricular hypertrophy, Microcephaly, Increased variability in muscle fi... ORPHA:86812
Galloway-Mowat Syndrome 7
Ventricular septal defect, Microcephaly, Dilated cardiomyopathy OMIM:618348
Mitochondrial Complex I Deficiency, Nuclear Type 36
Microcephaly, Limb hypertonia, Spasticity, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Increased hepatic glycogen content, Sudden cardiac death, Tachycardia, Chronic hepa... OMIM:614921
Combined Oxidative Phosphorylation Deficiency 23
Arrhythmia, Cardiomyopathy, Congestive heart failure OMIM:616198
Cirrhotic Cardiomyopathy
Right atrial enlargement, Hepatomegaly, Jaundice, Third heart sound, Left ventricular diastolic d... ORPHA:57777
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Pancreatitis, Hepatomegaly, Splenomegaly, Neutropenia, Anemia, Thrombocytopeni... ORPHA:79312
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Muscular ventricular septal defect, Diaphragmatic eventration, ... ORPHA:66634
3-Hydroxy-3-Methylglutaric Aciduria
Lipid accumulation in hepatocytes, Hepatomegaly, Jaundice, Leukocytosis, Anemia, Microcephaly, Le... ORPHA:20
Asbestos Intoxication
Interlobular septal thickening, Lung adenocarcinoma, Oxygen desaturation on exertion, Reduced vit... ORPHA:2302
Cardiomyopathy, Familial Hypertrophic, 21
Myofiber disarray, Left ventricular hypertrophy, Mitral valve prolapse, Atrial fibrillation, Hype... OMIM:614676
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy, Myopathy OMIM:617713
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Myocardial eosinophilic infiltration, Anemia, Thrombocytopenia OMIM:131400
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Multiple joint contractures, Bradykinesia, Ankle clonus, Babinski sign, P... ORPHA:521406
Congenital Varicella Syndrome
Cataract ORPHA:291
Cataract 2, Multiple Types
Developmental cataract, Nuclear cataract, Microcornea OMIM:604307
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract OMIM:618195
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Spinal muscular atrophy, Distal amyotrophy, Tremor, Fasciculations, Proximal amyotrophy OMIM:182980
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Mitral regurgitation, Dilated cardiomyopathy OMIM:212112
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatic necrosis, Dilated cardiomyopathy, Hepatic steatosis, Hypertrophic cardiomyopathy OMIM:231530
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Right atrial enlargement, Tricuspid regur... ORPHA:99095
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Roifman Syndrome
Hip contracture, Hepatomegaly, Splenomegaly, Microcephaly, Eosinophilia, Ventricular septal defec... OMIM:616651
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Arrhythmia, Cardiomyopathy, Proximal amyotrophy OMIM:612999
Cardiomyopathy, Dilated, 1Y
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Ebstein anomaly of the tricu... OMIM:611878
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Leigh Syndrome With Cardiomyopathy
Failure to thrive, Pulmonic stenosis, Mitral regurgitation, Dilated cardiomyopathy, Cardiac condu... ORPHA:70474
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Increased muscle lipid content, Hepatic steatosis, Cardiomyopathy, Myopathy OMIM:610717
Autoimmune Hemolytic Anemia, Cold Type
Pallor, Splenomegaly ORPHA:228312
Exudative Vitreoretinopathy 6
Cataract OMIM:616468
Peho Syndrome
Flexion contracture, Microcephaly, Midface retrusion, Arthrogryposis multiplex congenita, Biparie... ORPHA:2836
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutrope... OMIM:615285
Childhood-Onset Nemaline Myopathy
Slender build, Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalitie... ORPHA:171439
Combined Oxidative Phosphorylation Deficiency 45
Failure to thrive, Tremor, Ataxia, Cardiac arrest OMIM:618951
Nephrotic Syndrome, Type 11
Ventricular septal defect, Dilated cardiomyopathy OMIM:616730
Intellectual Disability-Cataracts-Kyphosis Syndrome
Iris coloboma, Cataract ORPHA:171860
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... ORPHA:1329
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Mitral valve prolapse, Dilated cardiomyopathy, Left ventricular systolic dysfunction OMIM:145350
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Nemaline bodies, Global systolic dysfunction, Limb muscle weakness, Cardiomyopathy OMIM:606842
Neutrophilia, Hereditary
Hepatosplenomegaly, Thickened calvaria, Neutrophilia OMIM:162830
X-Linked Sideroblastic Anemia
Pallor, Elevated hepatic transaminase, Splenomegaly ORPHA:75563
X-Linked Endothelial Corneal Dystrophy
Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology ORPHA:293621
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency, Bilateral ptosis, Recurrent pneumonia, Ventilato... ORPHA:254875
Retinitis Pigmentosa 4
Cataract OMIM:613731
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Apical hypertrophic cardiomyopathy, Ventricular hypertrophy, Atri... OMIM:613690
Hyperekplexia 4
Respiratory failure, Umbilical hernia OMIM:618011
Lower Motor Neuron Syndrome With Late-Adult Onset
Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalit... ORPHA:276435
Fetal Parvovirus Syndrome
Anemia, Hypertrophic cardiomyopathy, Ascites, Thrombocytopenia ORPHA:295
Retinitis Pigmentosa 42