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Gene: Ppp1r13l MGI:3525053

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
protein phosphatase 1, regulatory subunit 13 like
Synonyms:
IASPP,  NFkB interacting protein 1,  wa3

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Ppp1r13l 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ppp1r13l by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... OMIM:612124
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
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
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... OMIM:618920
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart ORPHA:3283
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:607482
Carvajal Syndrome
Woolly hair, Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... OMIM:619897
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Cardiomyopathy, Dilated, 2A
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:611880
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... OMIM:610476
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... OMIM:614022
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Cardiomyopathy, Dilated, 1Ff
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... OMIM:613286
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... OMIM:613252
Naxos Disease
Sparse scalp hair, Curly hair, Sudden cardiac death, Abnormality of hair texture, Congestive hear... ORPHA:34217
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... OMIM:613873
Cardiomyopathy, Dilated, 1L
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... OMIM:606685
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Multifocal Atrial Tachycardia
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... ORPHA:3282
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... OMIM:613172
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation OMIM:616500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy, Sudden cardiac death OMIM:115196
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Abnormal heart morphology, Aplasia... ORPHA:1067
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:613881
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele... ORPHA:263297
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Blindness, Reduced terminal:vellus ratio, Reduced visual acuity, Sparse hair, Pili torti OMIM:601553
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
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... OMIM:605362
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Hypotrichosis 1
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... OMIM:605389
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, Right ventricul... ORPHA:422
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Epicanthus, Optic atrophy, Upslanted palpebral fissure, Iris cyst, Ptosis OMIM:620086
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro... ORPHA:2334
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... OMIM:604229
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... OMIM:613255
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Hyp... OMIM:602400
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Danon Disease
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Sensorineural Deafness With Dilated Cardiomyopathy
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy ORPHA:217622
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Coloboma, Microphthalmia, Orbital cyst OMIM:251505
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Glycogen Storage Disease Xv
Scapular winging, ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Par... OMIM:613507
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Cardiomyopathy, Dilated, 1Jj
Reduced left ventricular ejection fraction, Dilated cardiomyopathy OMIM:615235
Cardiofaciocutaneous Syndrome 2
Curly hair, Absent eyebrow, Myopia, Fine hair, Mitral valve prolapse, Sparse hair, Ptosis OMIM:615278
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Epicanthus, Cataract, Sparse eyelashes, Telecanthus, Decreased response to growth... OMIM:615280
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus... OMIM:609200
Left Ventricular Noncompaction 2
Left ventricular noncompaction cardiomyopathy OMIM:609470
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Atrioventricula... OMIM:212138
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Woolly Hair
Hypopigmentation of hair, Cataract, Slow-growing hair, Brittle hair, Abnormal retinal morphology,... ORPHA:170
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Microphthal... ORPHA:1473
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Noonan Syndrome 9
Curly hair, Ventricular septal defect, Prominent corneal nerve fibers, Sparse eyebrow, Cryptorchi... OMIM:616559
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Heart block, Bacterial endocarditis, Premature ventricular contraction ORPHA:1964
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... ORPHA:70476
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... OMIM:608751
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... OMIM:614916
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di... OMIM:253700
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... OMIM:115210
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Intrinsic hand muscle atrophy, Cardiomyopathy, Proximal muscle weakness in lower limbs, Finger fl... ORPHA:63273
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, ... OMIM:602390
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... OMIM:611556
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Noonan Syndrome 6
Curly hair, Myopia, Epicanthus, Long eyebrows, Cryptorchidism, Bilateral ptosis, Low posterior ha... OMIM:613224
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617072
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Dilated cardiomyopathy, Arrhythmia, Hypertrophic cardiomyopathy, Visual... OMIM:616198
Cardiomyopathy, Dilated, 2B
Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate... OMIM:614672
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... ORPHA:79414
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... ORPHA:98957
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... ORPHA:1808
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardio... OMIM:613690
Cardiomyopathy, Familial Hypertrophic, 28
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en... OMIM:619402
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricus... OMIM:619705
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy... ORPHA:603
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly OMIM:600649
Uncombable Hair Syndrome 2
Uncombable hair, Juvenile cataract, Pili canaliculi OMIM:617251
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Atopic Keratoconjunctivitis
Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s... ORPHA:163934
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy, Myopathy, Fatty replacement of skeletal muscle OMIM:255100
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy OMIM:618855
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy ORPHA:79281
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Ventricular tachycardia, Sudden cardiac death ORPHA:3286
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Mucoepithelial Dysplasia, Hereditary
Alopecia, Cataract, Cor pulmonale, Keratoconjunctivitis, Melena, Coarse hair, Nail dystrophy, Fol... OMIM:158310
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... ORPHA:99106
Monilethrix
Abnormal eyebrow morphology, Cataract, Slow-growing hair, Brittle hair, Abnormal eyelash morpholo... ORPHA:573
Distal Deletion 6P
Posterior embryotoxon, Epicanthus, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of... ORPHA:96125
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Abnormal size of the palpebral fissures, Microcornea, Anterior synechia... ORPHA:3214
Noonan Syndrome 8
Curly hair, Epicanthus, Failure to thrive, Ventricular septal defect, Large for gestational age, ... OMIM:615355
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... OMIM:614065
Atrial Fibrillation, Familial, 15
Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu... OMIM:615770
Witkop Syndrome
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair OMIM:189500
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Thenar muscle atrophy, Dilated cardiomyopathy, Premature graying of hair, Distal lower limb muscl... OMIM:619903
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Sudden cardiac death, Left ventricular outflow tract obstruction, Reduced left ventricular endsys... OMIM:620236
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Ptosis, Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than typ... OMIM:300580
Muscular Dystrophy, Becker Type
Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia OMIM:300376
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Hypotrichosis 10
Sparse eyebrow, Sparse eyelashes, Sparse body hair OMIM:614238
Microcephaly-Microcornea Syndrome, Seemanova Type
Epicanthus, Cataract, Microcornea, Upslanted palpebral fissure, Microphthalmia ORPHA:2528
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:34587
Cardiomyopathy, Dilated, 3B
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:302045
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi OMIM:617252
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... ORPHA:99103
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... ORPHA:1686
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Endocardial Fibroelastosis
Telecanthus, Cryptorchidism, Congestive heart failure, Endocardial fibroelastosis, Restrictive ca... ORPHA:2022
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo... ORPHA:98912
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... OMIM:601005
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur... OMIM:608099
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... ORPHA:2722
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Microphthalmia, Corneal opacity ORPHA:2432
Noonan Syndrome 5
Curly hair, Epicanthus, Sparse eyebrow, Cryptorchidism, Fine hair, Arrhythmia, Pulmonic stenosis,... OMIM:611553
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Cardiomyopathy, Distal lower limb muscle weakness, Supraventricular arrhythmia, Leg muscle stiffness ORPHA:320360
Oculoauricular Syndrome
Sclerocornea, Microcornea, Iris cyst, Chorioretinal coloboma, Ocular anterior segment dysgenesis,... OMIM:612109
Microphthalmia, Syndromic 13
Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Ptosis OMIM:300915
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Ventricular tachycardia, Syncope OMIM:615821
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles OMIM:609500
Leopard Syndrome 2
Epicanthus, Curly hair, Hypertrophic cardiomyopathy, Downslanted palpebral fissures OMIM:611554
Xeroderma Pigmentosum, Complementation Group D
Cataract, Entropion, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Conjunctivitis, Micro... OMIM:278730
Galactosialidosis
Cherry red spot of the macula, Corneal opacity ORPHA:351
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Cardiomyopathy, Familial Hypertrophic, 20
Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation, Lef... OMIM:613876
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio... OMIM:611705
Cataract 21, Multiple Types
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... OMIM:610202
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... OMIM:181350
Rothmund-Thomson Syndrome, Type 1
Absent eyebrow, Thin nail, Absent eyelashes, Hyperkeratosis, Nail dystrophy, Sparse hair, Juvenil... OMIM:618625
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Muscle Filaminopathy
Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeletal muscle, A... ORPHA:171445
Cardiomyopathy, Dilated, 1X
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:611615
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... OMIM:614676
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Palmoplantar keratoderma, Limbal stem cell deficiency, Nail dystrophy, Follicular ... OMIM:615225
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Cardiofaciocutaneous Syndrome 3
Curly hair, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic card... OMIM:615279
Leopard Syndrome 3
Curly hair, Epidermal hyperkeratosis, Low posterior hairline, Hyperkeratosis, Abnormal aortic val... OMIM:613707
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c... OMIM:614195
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... OMIM:610256
Gómez-López-Hernández Syndrome
Toenail dysplasia, Telecanthus, Alopecia of scalp, Corneal opacity ORPHA:1532
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microcoria, Optic pit, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:616428
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... OMIM:604286
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Pterygium, Cardiac arrest, Cardiomegaly, Left ven... OMIM:618052
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Phthisis bulbi, Hyphema, Leuk... OMIM:221900
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... OMIM:601552
Distal Nebulin Myopathy
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... ORPHA:399103
Ichthyosis, Hystrix-Like, With Deafness
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, Scarring alopecia of scalp... OMIM:602540
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Malignant Hyperthermia Of Anesthesia
Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congestive heart failure, Abno... ORPHA:423
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Ptosis ORPHA:2229
Palmoplantar Keratoderma And Congenital Alopecia 2
Alopecia totalis, Camptodactyly of finger, Palmoplantar hyperkeratosis, Developmental cataract, H... OMIM:212360
Noonan Syndrome 10
Curly hair, Epicanthus, Ventricular septal defect, Prominent corneal nerve fibers, Sparse eyebrow... OMIM:616564
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Cardiomyopathy, Dilated, 2C
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy OMIM:618189
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... OMIM:613874
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:604219
Trichothiodystrophy 4, Nonphotosensitive
Epicanthus, Brittle hair, Sparse eyelashes, Ventricular septal defect, Abnormality of hair textur... OMIM:234050
Noonan Syndrome 4
Curly hair, Epicanthus, Ventricular septal defect, Sparse eyebrow, Bilateral ptosis, Cryptorchidi... OMIM:610733
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy... OMIM:612999
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Proximal muscle weakness in upper limbs, Skeletal muscle atrophy,... OMIM:619566
Ectodermal Dysplasia 9, Hair/Nail Type
Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair OMIM:614931
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... ORPHA:2891
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Foveal Hypoplasia 2
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis... OMIM:609218
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio OMIM:618880
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Autoinflammation With Arthritis And Dyskeratosis
Palmoplantar hyperkeratosis, Uveitis, Keratoconjunctivitis sicca, Follicular hyperkeratosis, Punc... OMIM:617388
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... OMIM:115200
Winchester Syndrome
Corneal opacity, Hirsutism OMIM:277950
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Epicanthus, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal... OMIM:152950
Phacoanaphylactic Uveitis
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... ORPHA:209959
2Q24 Microdeletion Syndrome
Cataract, Camptodactyly of finger, Abnormality iris morphology, Coloboma, Microphthalmia, Downsla... ORPHA:1617
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Dermoids Of Cornea
Corneal opacity OMIM:304730
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy OMIM:609016
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Ventricular septal defect, P... ORPHA:26793
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy, Asymmetric septal hypertrophy OMIM:212130
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... OMIM:616201
Temporal Arteritis
Blindness, Retinal arteritis OMIM:187360
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... ORPHA:75566
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, E... OMIM:300696
Olmsted Syndrome 1
Subungual hyperkeratosis, Parakeratosis, Corneal opacity, Hyperparakeratosis, Periorificial hyper... OMIM:614594
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy OMIM:615395
Intellectual Developmental Disorder, Autosomal Dominant 34
Curly hair, Epicanthus, Cerebral visual impairment, Bilateral ptosis, Synophrys, Upslanted palpeb... OMIM:616351
Distal Myotilinopathy
Multiple joint contractures, Cardiomyopathy, Distal amyotrophy, EMG: myopathic abnormalities, Abn... ORPHA:98911
Myopathy, Myofibrillar, 1
Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular... OMIM:601419
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Hypogonadism, Sparse body hair, Abnormal testis morphology, Pi... ORPHA:202
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Vi... ORPHA:280921
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy ORPHA:90654
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy... OMIM:608807
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Myotonic Dystrophy 2
Tachycardia, Premature ventricular contraction, Right bundle branch block, Palpitations, Generali... OMIM:602668
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Tachycardia, Ventricular septal defect, Cardiac shunt, A... ORPHA:860
Giant Axonal Neuropathy 2, Autosomal Dominant
Cardiomyopathy, Distal amyotrophy OMIM:610100
Morbid Obesity And Spermatogenic Failure
Myocardial infarction, Congestive heart failure, Oligozoospermia, Azoospermia, Hypertension, Infe... OMIM:615703
Anonychia With Flexural Pigmentation
Macular telangiectasia, Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular h... ORPHA:69125
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Osteoarthritis, Hy... ORPHA:1345
Kid Syndrome
Sparse eyelashes, Keratitis, Posterior blepharitis, Corneal erosion, Sparse eyebrow, Scarring alo... ORPHA:477
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Retinal dystrophy, Peripheral retinal atrophy, Absent foveal reflex, Microcornea, Follicular hype... OMIM:615147
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Congestive heart failure, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia OMIM:605676
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Supraventricular tachyc... ORPHA:90064
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Muscular dystrophy, Cardiomyopathy OMIM:309930
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Retinal Capillary Malformation
Myopia, Blindness, Photopsia, Amblyopia, Vitreous floaters, Hyphema, Reduced visual acuity, Vitre... ORPHA:71213
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Intermediate Uveitis
Anterior uveitis, Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floate... ORPHA:279914
Keratoendotheliitis Fugax Hereditaria
Keratitis, Conjunctival hyperemia, Epiretinal membrane, Opacification of the corneal stroma OMIM:148200
Nystagmus 2, Congenital, Autosomal Dominant
Mildly reduced visual acuity, Reduced visual acuity, Visual impairment OMIM:164100
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Left atrial enlargement, Facial palsy,... OMIM:160500
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Cardiomyopathy, Amyotrophy o... ORPHA:399086
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Abnormal eyelash morphology, Periodontitis, Sparse body hair, Alopecia univers... ORPHA:1008
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia, Ankyloblepharon, Sclerocornea OMIM:611038
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... OMIM:617912
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy, Decreased body weight OMIM:618097
Clouston Syndrome
Alopecia, Cataract, Sparse eyelashes, Brittle hair, Alopecia totalis, Slow-growing hair, Sparse e... OMIM:129500
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m... OMIM:609308
Leber Hereditary Optic Neuropathy, Autosomal Recessive 1
Central scotoma, Reduced visual acuity, Retinal telangiectasia OMIM:619382
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Widow's peak, Atopic dermatitis, Sparse hair, Thick eyebrow, Ptosis OMIM:606242
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven... OMIM:300952
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... ORPHA:399058
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cerebral hemorrhage, Congenital ptosis, Dilated cardiomyopathy, P... ORPHA:280679
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cardiomyopathy, Limb muscle weakness, Nemaline bodies, Global systolic dysfunction OMIM:606842
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Erythrokeratodermia Variabilis
Alopecia, Cataract, Corneal opacity, Abnormal hair morphology, Patchy palmoplantar hyperkeratosis... ORPHA:317
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Medial flaring of the eyebrow, Tricuspid regurgitation, Sparse eyel... OMIM:612863
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Primary testicula... OMIM:115250
Carnitine-Acylcarnitine Translocase Deficiency
Rhabdomyolysis, Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia ORPHA:159
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... OMIM:611040
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hypertrophy, Shoulde... ORPHA:34515
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Narrow palpebral fissure, Microp... OMIM:615145
Chand Syndrome
Curly hair, Ankyloblepharon, Nail dysplasia OMIM:214350
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy, Muscl... ORPHA:369840
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Noonan Syndrome 7
Curly hair, Epicanthus, Large for gestational age, Low posterior hairline, Pulmonic stenosis, Atr... OMIM:613706
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Cardiomyopathy OMIM:619647
Oculomaxillofacial Dysostosis
Corneal opacity, Camptodactyly of finger, Abnormal eyelid morphology, Abnormal eyelash morphology... ORPHA:1794
Optic Atrophy 9
Red-green dyschromatopsia, Paracentral scotoma, Reduced visual acuity, Visual impairment OMIM:616289
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyelashes, Corneal dystrophy, Keratitis, Sparse eyebrow, Scarring alopecia of scalp, Dystr... OMIM:308800
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... ORPHA:263479
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Cataract, Corneal opacity, Low anterior hairline, Coloboma, Muscular dystroph... OMIM:613153
Flynn-Aird Syndrome
Alopecia, Cataract, Hyperkeratosis, Alopecia of scalp, Rod-cone dystrophy OMIM:136300
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility OMIM:300604
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... OMIM:619371
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Curly hair, Epicanthus, Sparse scalp hair, Atrial septal defect, Ventricula... OMIM:607721
Corneal Dystrophy, Reis-Bucklers Type
Palpebral edema, Corneal opacity, Corneal dystrophy, Corneal erosion, Opacification of the cornea... OMIM:608470
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Ptosis, Left atrial enlargement, Left ventricular noncompaction cardiomyopathy, Cardiogenic shock... OMIM:619424
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Fine hair, Microcornea... ORPHA:1806
Erythrokeratodermia Variabilis Et Progressiva 5
Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis OMIM:617756
Sandhoff Disease
Congestive heart failure, Blindness ORPHA:796
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Cardiac arrest, Acute rhabdomyolysis, Rhabdomyolysis, Ventricular tachycardia, Torsade de pointes... OMIM:616878
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy ORPHA:369847
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
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Leber Hereditary Optic Neuropathy
Myopathy, Arrhythmia, Ventricular preexcitation, Retinal telangiectasia ORPHA:104
Heart-Hand Syndrome, Slovenian Type
Myopathy, Dilated cardiomyopathy OMIM:610140
Cataract 11, Multiple Types
Microphthalmia, Cataract, Developmental cataract OMIM:610623
Syndromic X-Linked Intellectual Disability 7
Visual loss, Cryptorchidism, Hypogonadism, Sparse body hair ORPHA:85274
Macular Dystrophy, Vitelliform, 5
Central scotoma, Reduced visual acuity, Moderately reduced visual acuity OMIM:616152
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Cardiomyopathy OMIM:619651
Maternally-Inherited Diabetes And Deafness
Congestive heart failure, Hypertension, Arrhythmia, Hypertrophic cardiomyopathy, Visual impairment ORPHA:225
Bardet-Biedl Syndrome 2
Atrial septal defect, Hypogonadism, Dilated cardiomyopathy, Bicuspid aortic valve OMIM:615981
Chops Syndrome
Curly hair, Cataract, Ventricular septal defect, Thick hair, Cryptorchidism, Synophrys, Optic atr... OMIM:616368
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Cardiomegaly, Third he... ORPHA:1329
Congenital Myopathy 24
Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopathy, Type 1 muscl... OMIM:617336
Noonan Syndrome 14
Aortic regurgitation, Curly hair, Epicanthus, Lacrimal duct stenosis, Sparse eyebrow, Cryptorchid... OMIM:619745
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca... ORPHA:206559
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:611638
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Linear Verrucous Nevus Syndrome
Sparse scalp hair, Cataract, Hyperkeratosis, Abnormal cornea morphology, Retinopathy, Iris colobo... ORPHA:2611
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle... OMIM:612937
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility ORPHA:488191
Microphthalmia, Isolated 6
Microcornea, Microphthalmia, Retinal fold OMIM:613517
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Skeletal muscle atrophy, Reduced systolic function, Dilated cardiomyopathy, Macroglossia, Calf mu... OMIM:616827
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
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin... OMIM:251270
Braddock-Carey Syndrome 1
Curly hair, Telecanthus, Aortic valve prolapse, Ventricular septal defect, Camptodactyly, Sparse ... OMIM:619980
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Developmental cataract, Coloboma, Retinal dysplasia, Microphthalmia, Ocular anterior segment dysg... ORPHA:324416
Warburg-Cinotti Syndrome
Epicanthus, Retinal dystrophy, Symblepharon, Ankle flexion contracture, Elbow flexion contracture... OMIM:618175
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Hemochromatosis, Type 2B
Congestive heart failure, Hypogonadism, Secondary amenorrhea, Cardiomyopathy OMIM:613313
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu... OMIM:255160
Bartsocas-Papas Syndrome 2
Corneal opacity, Antecubital pterygium, Ankyloblepharon, Popliteal pterygium, Microphthalmia, Axi... OMIM:619339
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Harel-Yoon Syndrome
Corneal opacity, Optic atrophy, Developmental cataract, Upslanted palpebral fissure, Distal amyot... OMIM:617183
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Curly hair, Curly eyelashes, Cryptorchidism, Multiple rows of eyelashes, Low posterior hairline, ... ORPHA:163654
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Cardiomyopathy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Muscular dy... OMIM:615352
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276556
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Microphthalmia, Retinop... OMIM:616171
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Curly hair, Epicanthus, Atrial septal defect, Sparse eyebrow, Patent foramen ovale, Synophrys, Sp... OMIM:620075
Familial Dyskinesia And Facial Myokymia
Congestive heart failure, Dilated cardiomyopathy ORPHA:324588
Ceroid Lipofuscinosis, Neuronal, 3
Reduced visual acuity, Blindness, Concentric hypertrophic cardiomyopathy, Progressive visual loss OMIM:204200
Oculodentodigital Dysplasia
Curly hair, Epicanthus, Cataract, Brittle hair, Slow-growing hair, Abnormal fingernail morphology... ORPHA:2710
Nasopalpebral Lipoma-Coloboma Syndrome
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e... ORPHA:2399
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Knee flexion contracture, Upslanted palpebral fissure, Astigmatism, Camptodactyly, Long... OMIM:619694
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Macular dystrophy, Corneal dystrophy, Recurrent corneal ero... OMIM:217800
Cat-Eye Syndrome (Type I)
Downslanted palpebral fissures, Iris coloboma, Abnormal heart morphology DECIPHER:42
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left... OMIM:540000
Cat-Eye Syndrome
Microphthalmia, Downslanted palpebral fissures, Iris coloboma, Chorioretinal coloboma ORPHA:195
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ... OMIM:115195
Cednik Syndrome
Abnormality of vision, Congestive heart failure, Downslanted palpebral fissures, Hypogonadism ORPHA:66631
Spondylo-Ocular Syndrome
Abnormal eyebrow morphology, Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Ventri... ORPHA:85194
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the corn... OMIM:270200
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... ORPHA:70591
Mucolipidosis Type Iii
Abnormal heart valve morphology, Corneal opacity, Abnormal aortic valve morphology ORPHA:577
Hemochromatosis, Type 1
Alopecia, Hypogonadotropic hypogonadism, Cardiomegaly, Congestive heart failure, Telangiectasia, ... OMIM:235200
Dpm3-Cdg
Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weaknes... ORPHA:263494
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Cryptorchidism, Dilated cardiomyopathy, Flexion contracture, Developmental catar... OMIM:618815
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Retinal dystrophy, Facial palsy, Flexion contracture, Developmental cataract, Abnormal left ventr... OMIM:613155
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... ORPHA:85451
Morquio Syndrome C
Corneal opacity OMIM:252300
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First d... OMIM:115197
Combined Oxidative Phosphorylation Deficiency 17
Congestive heart failure, Hypertrophic cardiomyopathy OMIM:615440
Triose Phosphate-Isomerase Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy ORPHA:868
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopathy, Visual impai... OMIM:252011
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Microphthalmia, Syndromic 8
Cryptorchidism, Microcornea, Blepharophimosis, Microphthalmia, Short palpebral fissure OMIM:601349
Retinitis Pigmentosa 35
Blindness, Reduced visual acuity, Nyctalopia OMIM:610282
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal cardiac septum morphology, Corneal opacity ORPHA:2370
Warburg Micro Syndrome 1
Cryptorchidism, Optic atrophy, Hypertrichosis, Developmental cataract, Microcornea, Facial hypert... OMIM:600118
Choroidal Atrophy-Alopecia Syndrome
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... ORPHA:1433
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Butyrylcholinesterase Deficiency
Congestive heart failure, Myocardial infarction ORPHA:132
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Graham Little-Piccardi-Lassueur Syndrome
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair ORPHA:505
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276575
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Ventricular septal defect, Aplasi... ORPHA:290
Optic Atrophy 7 With Or Without Auditory Neuropathy
Constriction of peripheral visual field, Central scotoma, Reduced visual acuity, Dyschromatopsia,... OMIM:612989
Familial Isolated Dilated Cardiomyopathy
Myopathy, Dilated cardiomyopathy ORPHA:154
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Cataract, Corneal opacity, Congenital abnormal hair pattern, Cryptorchidism, Heart murm... ORPHA:1867
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... ORPHA:2889
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ... OMIM:609452
Bietti Crystalline Dystrophy
Blindness, Constriction of peripheral visual field, Large central visual field defect, Central sc... ORPHA:41751
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy, Cerebral v... OMIM:618234
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Flexion contracture, Interphalangeal thumb joint contract... OMIM:613870
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Blue irides, Heterochromia iridis, Hypopigmentation of the fundus OMIM:103500
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair OMIM:234030
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular sep... ORPHA:137675
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276580
Congenital Myopathy 4A, Autosomal Dominant
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Dilated cardiom... OMIM:255310
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... OMIM:610198
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Cataract, Rhegmatog... ORPHA:891
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... OMIM:613000
Ichthyosis, Congenital, Autosomal Recessive 13
Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:617574
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Acute rhabdomyolysis, Camptodactyly of finger, Microcornea, Long eyelashes, Microphthalmia ORPHA:48431
Microphthalmia, Isolated 2
Microphthalmia, Opacification of the corneal stroma OMIM:610093
Neurooculocardiogenitourinary Syndrome
Epicanthus, Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorch... OMIM:618652
Congenital Fibrinogen Deficiency
Tachycardia, Prolonged prothrombin time, Left ventricular hypertrophy, Internal hemorrhage, Right... ORPHA:335
Dk1-Cdg
Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac... ORPHA:91131
Axenfeld-Rieger Syndrome, Type 3
Hypoplasia of the iris, Ectopia pupillae, Posterior synechiae of the anterior chamber, Atrial sep... OMIM:602482
Oliver-Mcfarlane Syndrome
Alopecia, Hypogonadotropic hypogonadism, Long eyebrows, Cryptorchidism, Long eyelashes, Sparse hair OMIM:275400
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, Optic atrophy, Upslanted palpe... ORPHA:496790
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Curly hair, Epicanthus, Telecanthus, Thick eyebrow, Atrial septal defect, Highly arched eyebrow, ... OMIM:617360
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Corneal opacity, Keratitis, Synophrys, Conjunctivitis, Long palpebral fissure, Downslanted palpeb... OMIM:602562
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis, Bitot spots of the conjunctiva OMIM:277350
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ... OMIM:267760
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy, Flexion contracture, Increased muscle lipid content, Upper limb muscle we... ORPHA:171442
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... OMIM:614980
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Noonan Syndrome 2
Curly hair, Epicanthus, Mitral stenosis, Ventricular septal defect, Sparse eyebrow, Cryptorchidis... OMIM:605275
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Myopia, Alopecia, Cryptorchidism, Long eyelashes, Hypogonadism, Sparse hair ORPHA:3363
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... OMIM:212550
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Skeletal muscle atrophy, Tachycardia, Glycogen accumulation in muscle fiber lysosomes, Rhabdomyol... ORPHA:368
Frontofacionasal Dysplasia
Telecanthus, Cataract, Blepharophimosis, Brushfield spots, Upper eyelid coloboma, Microcornea, Li... ORPHA:1791
Acrokeratosis Verruciformis
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Ridged nail, Acrokeratosis OMIM:101900
Prolactinoma
Bitemporal hemianopia, Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in m... ORPHA:2965
Congenital Myopathy 2A, Typical, Autosomal Dominant
Facial palsy, Dilated cardiomyopathy, Limb muscle weakness, Type 1 muscle fiber predominance, Art... OMIM:161800
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma OMIM:610023
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... OMIM:305390
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Gombo Syndrome
Microphthalmia, Abnormal heart morphology OMIM:233270
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Sparse eyelashes, Trichiasis, Keratitis, Sparse eyebrow, Elbow flexion contracture, Corneal scarr... OMIM:148210
Onychotrichodysplasia And Neutropenia
Curly hair, Chronic irritative conjunctivitis, Curly eyelashes, Concave nail, Sparse pubic hair, ... OMIM:258360
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Scapular winging, Calf muscle pseudohypertrophy, Centrally nucleated skeletal muscle fibers, Scap... OMIM:608358
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail OMIM:617294
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch... ORPHA:231736
Ectodermal Dysplasia, Trichoodontoonychial Type
Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/... ORPHA:1818
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Left atrial enlargement, Cardiomegaly, L... ORPHA:57777
Hurler-Scheie Syndrome
Abnormal heart valve morphology, Cardiomyopathy, Corneal opacity, Generalized hirsutism ORPHA:93476
Hypotrichosis 12
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... OMIM:615885
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia OMIM:616276
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction... OMIM:614096
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Scheie Syndrome
Aortic regurgitation, Aortic valve stenosis, Corneal opacity, Retinal degeneration OMIM:607016
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Corneal erosion, Hyperkeratosis, Macular degeneration, Ichth... ORPHA:816
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation
Broad eyebrow, Abnormal hair morphology, Keratitis, Reduced visual acuity, Upslanted palpebral fi... OMIM:122430
Alstrom Syndrome
Alopecia, Blindness, Hypergonadotropic hypogonadism, Constriction of peripheral visual field, Chr... OMIM:203800
Eisenmenger Syndrome
Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Atrial septal defect, Sup... ORPHA:97214
Frontonasal Dysplasia 1
Epicanthus, Cataract, Widow's peak, Coloboma, Pectoral muscle hypoplasia/aplasia, Joint contractu... OMIM:136760
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Telangiectasia of the skin, Hypergonadotropic hypogonadism, Dilated cardiomyopathy, Cardiomyopath... OMIM:212112
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Hypertrophic cardiomyopathy OMIM:614053
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi... ORPHA:83461
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... OMIM:217300
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Blindness, Brittle hair, Fine hair, Pili torti ORPHA:1573
Newfoundland Rod-Cone Dystrophy
Nyctalopia, Scotoma, Visual impairment, Color vision defect OMIM:607476
Propionic Acidemia
Cardiomyopathy, Arrhythmia ORPHA:35
Refsum Disease
Abnormality of retinal pigmentation, Skeletal muscle atrophy, Cataract, Heart block, Cardiomyopat... ORPHA:773
Myopathy, Myofibrillar, 2
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... OMIM:608810
Rere-Related Neurodevelopmental Syndrome
Epicanthus, Ventricular septal defect, Cryptorchidism, Optic atrophy, Abnormal heart morphology, ... ORPHA:494344
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Developmental And Epileptic Encephalopathy 35
Cardiomyopathy OMIM:616647
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Generalized keratosis follicularis, Pal... ORPHA:2890
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Eczema, Photophobia, Sparse hair, Blephar... OMIM:618535
Familial Cutaneous Collagenoma
Atrial septal defect, Congestive heart failure, Angina pectoris, Cardiomyopathy ORPHA:53296
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Allergic rhinitis, Abnormalit... ORPHA:90368
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... OMIM:612422
Sympathetic Ophthalmia
Papilledema, Alopecia, Cataract, Retinal detachment, Poliosis, Vitreous floaters, Vitritis, Retin... ORPHA:79098
Mitochondrial Complex I Deficiency, Nuclear Type 30
Congestive heart failure OMIM:301021
Weill-Marchesani Syndrome 4
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... OMIM:613195
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Curly hair, Epicanthus, Almond-shaped palpebral fissure, Mitral valve prolapse, Atrial septal def... OMIM:300986
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly ORPHA:85447
Temtamy Syndrome
Microphthalmia, Telecanthus, Iris coloboma, Chorioretinal coloboma ORPHA:1777
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Cardiomyopathy, Myopathy... ORPHA:86812
Microphthalmia With Brain And Digit Anomalies
Cataract, Anophthalmia, Retinal dystrophy, Sclerocornea, Cryptorchidism, Microcornea, Chorioretin... ORPHA:139471
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu... ORPHA:59135
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Schopf-Schulz-Passarge Syndrome
Ridged nail, Narrow nail, Thin nail, Poroma, Multiple eyelid margin cysts, Hyperkeratosis, Palmop... OMIM:224750
Hjv Or Hamp-Related Hemochromatosis
Impotence, Dilated cardiomyopathy, Hypogonadism ORPHA:79230
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... OMIM:314400
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri... ORPHA:98855
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... OMIM:617228
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair OMIM:616099
Copper Deficiency, Familial Benign
Curly hair, Failure to thrive, Early balding OMIM:121270
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Recessive X-Linked Ichthyosis
Cryptorchidism, Hyperkeratosis, Opacification of the corneal stroma, Ichthyosis ORPHA:461
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Bicuspid aortic valve, Thick hair, Highly arched eyebrow, Overweight, Dilat... ORPHA:401923
Leber Congenital Amaurosis 12
Congenital blindness OMIM:610612
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Blindness, Severely reduced visual acuity OMIM:309555
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Optic atrophy, Coarse hair, Ichth... ORPHA:585
Refsum Disease, Classic
Cardiomegaly, Congestive heart failure, Nyctalopia, Cardiomyopathy, Arrhythmia, Ptosis OMIM:266500
Costello Syndrome
Keratoconus, Deep-set nails, Epicanthus, Abnormal fingernail morphology, Ventricular septal defec... ORPHA:3071
Nasopalpebral Lipoma-Coloboma Syndrome
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Widow's peak, Upper eye... OMIM:167730
Trichohepatoneurodevelopmental Syndrome
Curly hair, Epicanthus, Ectropion, Ventricular septal defect, Almond-shaped palpebral fissure, Wo... OMIM:618268
Ramon Syndrome
Abnormality of retinal pigmentation, Telangiectasia of the skin, Hyperkeratosis, Abnormal anterio... ORPHA:3019
Proteus Syndrome
Limbal dermoid, Hyperkeratosis, Downslanted palpebral fissures, Ptosis OMIM:176920
Mucolipidosis Iv
Optic atrophy, Retinal degeneration, Corneal opacity, Opacification of the corneal stroma OMIM:252650
Insulin-Resistance Syndrome Type A
Hyperkeratosis, Generalized hirsutism ORPHA:2297
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Ichthyosis follicularis, Atrichia, Periungual erythema, Atrial septal defect, Dystrophic fingerna... OMIM:308205
Retinitis Pigmentosa 29
Blindness OMIM:612165
Retinitis Pigmentosa 78
Reduced visual acuity, Nyctalopia, Photopsia, Visual field defect OMIM:617433
Mitochondrial Dna Depletion Syndrome 11
Arrhythmia, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Ptosis OMIM:615084
Blepharophimosis, Ptosis, And Epicanthus Inversus
Ptosis, Telecanthus, Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, ... OMIM:110100
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v... OMIM:616501
Amaurosis-Hypertrichosis Syndrome
Abnormal eyelash morphology, Synophrys, Photophobia, Coarse hair, High hypermetropia, Visual impa... ORPHA:1021
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Cardiomyopathy, Lower limb hypertonia, Generalized amyotrophy, Lower limb muscle we... ORPHA:1177
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Cataract, Ventricular septal defect, Cryptorchidism, Microphthalmia OMIM:613730
Trichothiodystrophy 3, Photosensitive
Cataract, Brittle hair, Bilateral cryptorchidism, Developmental cataract, Congenital ichthyosifor... OMIM:616395
Trichothiodystrophy 9, Nonphotosensitive
Epicanthus, Sparse eyebrow, Nail dystrophy, Sparse hair, Tiger tail banding OMIM:619692
Ichthyosis, X-Linked
Testicular neoplasm, Cryptorchidism, Congenital ichthyosiform erythroderma, Palmoplantar keratode... OMIM:308100
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair OMIM:617073
Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Sudden card... ORPHA:261
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Hypergonadotropic hypogonadism, Diplopia, Dilated cardiomyopathy, Arrhythmia, Ptosis ORPHA:352447
Yemenite Deaf-Blind Hypopigmentation Syndrome
Microcornea, White forelock, Iris coloboma, Chorioretinal coloboma OMIM:601706
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Sudden card... ORPHA:98853
Harlequin Ichthyosis
Cataract, Sudden cardiac death, Hyperkeratosis, Congenital ichthyosiform erythroderma, Ichthyosis... ORPHA:457
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Palpebral edema, Ectopia lentis, Fingernail dysplasia, Iris ... ORPHA:1259
Choroideremia
Myopia, Nyctalopia, Abnormality of vision, Progressive visual loss, Visual impairment ORPHA:180
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... ORPHA:1809
Oculofaciocardiodental Syndrome
Retinal detachment, Cataract, Highly arched eyebrow, Ectopia lentis, Flexion contracture of the 4... ORPHA:2712
X-Linked Neurodegenerative Syndrome, Hamel Type
Blindness ORPHA:85336
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Low-output congestive heart failure, Hypertrophic cardiomyopathy, Myopathy ORPHA:91130
Cofs Syndrome
Abnormality of retinal pigmentation, Cataract, Camptodactyly of finger, Optic atrophy, Microphtha... ORPHA:1466
Isolated Atp Synthase Deficiency
Blindness, Dilated cardiomyopathy, Hypogonadism, Arrhythmia, Hypertrophic cardiomyopathy, Ptosis ORPHA:254913
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Primary a... OMIM:146110
Retinopathy Of Prematurity
Vitreous hemorrhage, Blindness ORPHA:90050
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Coarse hair, Atrial septal defect, Sparse hair, Patent foramen ovale, Tricuspid regurgitation, Hi... OMIM:617506
Neutral Lipid Storage Disease With Myopathy
Cardiomyopathy, Increased muscle lipid content, Myopathy OMIM:610717
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Curly hair, Myopia, Slow-growing hair, Epicanthus, Cerebral visual impairment, Ab... OMIM:115150
Cone-Rod Dystrophy, X-Linked, 1
Myopia, Nyctalopia, Reduced visual acuity, Photophobia, Visual impairment, Color vision defect OMIM:304020
Parana Hard Skin Syndrome
Hyperkeratosis, Thickened skin, Generalized hirsutism ORPHA:2812
Hsd10 Disease, Neonatal Type
Hypertrophic cardiomyopathy ORPHA:391457
Scorpion Envenomation
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca... ORPHA:466677
Coats Disease
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... ORPHA:190
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis OMIM:607685
Trichothiodystrophy 1, Photosensitive
Cataract, Brittle hair, Trichoschisis, Flexion contracture, Fine hair, Microcornea, Hyperkeratosi... OMIM:601675
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cataract OMIM:278780
Pierpont Syndrome
Telecanthus, Cryptorchidism, Microcornea, Narrow palpebral fissure, Microphthalmia, High anterior... ORPHA:487825
Hereditary Mucoepithelial Dysplasia
Alopecia, Cataract, Corneal dystrophy, Fine hair, Hyperkeratosis, Sparse hair ORPHA:1839
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Hypertension, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure ORPHA:1349
Desminopathy
Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo... ORPHA:98909
Sandestig-Stefanova Syndrome
Epicanthus, Laterally extended eyebrow, Highly arched eyebrow, Muscular ventricular septal defect... OMIM:618804
Retinitis Pigmentosa 73
Ring scotoma, Constriction of peripheral visual field, Photopsia, Central scotoma, Nyctalopia, Bl... OMIM:616544
Retinitis Pigmentosa 27
Blindness, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Visual imp... OMIM:613750
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Focal Facial Dermal Dysplasia 3, Setleis Type
Epicanthus, Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis OMIM:227260
Bartsocas-Papas Syndrome
Corneal opacity, Alopecia totalis, Hypoplastic toenails, Ankyloblepharon, Popliteal pterygium, Ey... ORPHA:1234
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Increased variability in muscle fiber diameter OMIM:613752
Mitochondrial Complex I Deficiency, Nuclear Type 14
Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy OMIM:618236
Non-Functioning Pituitary Adenoma
Bitemporal hemianopia, Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in m... ORPHA:91349
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Cryptorchidism, Retinal coloboma, Microphthalmia, Rod-cone dystrophy ORPHA:363741
Cone-Rod Dystrophy 12
Central scotoma, Nyctalopia, Reduced visual acuity, Color vision defect OMIM:612657
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Optic atrophy, Hyperkeratosis, Coloboma, Ichthyosis, Microphthalmia, Hypertrichosis OMIM:612379
Mitochondrial Complex I Deficiency, Nuclear Type 22
Hypertrophic cardiomyopathy OMIM:618243
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Cryptorchidism, Retinal coloboma, Microphthalmia, Rod-cone dystrophy OMIM:601794
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Cardiomyopathy, Facial diplegia, Type... ORPHA:171433
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti OMIM:607903
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Alopecia, Ventricular septal defect, Sclerocornea, Cryptorchidism, Hypoplas... OMIM:613001
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Amyloidosis, Finnish Type
Cardiomyopathy, Cardiac amyloidosis OMIM:105120
Hydrops Fetalis, Nonimmune
Congestive heart failure OMIM:236750
Macular Dystrophy, Vitelliform, 1
Reduced visual acuity, Visual impairment, Visual field defect OMIM:153840
Short Syndrome
Posterior embryotoxon, Telecanthus, Corneal opacity, Alopecia, Abnormal pupil morphology, Hypopla... ORPHA:3163
Sorsby Fundus Dystrophy
Blindness OMIM:136900
Pierpont Syndrome
Telecanthus, Cryptorchidism, High anterior hairline, Microcornea, Narrow palpebral fissure, Bleph... OMIM:602342
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair OMIM:129490
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract, Tendon xanthomatosis OMIM:618463
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Myopathy, Hypertrophic cardiomyopathy ORPHA:1369
Cerebral Sclerosis, Diffuse, Scholz Type
Blindness OMIM:302700
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Skeletal muscle atrophy, Arterial rupture, Microcornea, Myopathy, Follicular hyperkeratosis ORPHA:300179
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Congestive heart failure, Dilated cardiomyopathy OMIM:606703
Congenital Stationary Night Blindness
Myopia, Nyctalopia, Reduced visual acuity, Congenital stationary night blindness with normal fund... ORPHA:215
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Cerebral hemorrhage, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhag... OMIM:175780
Megabladder, Congenital
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... OMIM:618719
Variegate Porphyria
Tachycardia OMIM:176200
Infantile Sialic Acid Storage Disease
Epicanthus, Cardiomegaly, Congestive heart failure, Fair hair, Ptosis OMIM:269920
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Cryptorchidism, Fine hair ORPHA:1174
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy ORPHA:254857
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Dilated cardiomyopathy, Peripheral visual field loss, Mitral valve prolapse, Left ventricular sys... OMIM:145350
Lessel-Kubisch Syndrome
Sparse pubic hair, Hypertension, Hypogonadism, Premature graying of hair OMIM:618681
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... OMIM:193220
22Q11.2 Deletion Syndrome
Abnormal eyelid morphology, Hypoplasia of the thymus, Atrial septal defect, Hypoparathyroidism, C... ORPHA:567
Retinitis Pigmentosa 80
Blindness, Progressive visual loss, Nyctalopia OMIM:617781
Cone-Rod Dystrophy 24
Pericentral scotoma, Myopia, Scotoma, Nyctalopia, Reduced visual acuity, Photophobia, Color visio... OMIM:620342
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Epicanthus, Cataract, Anophthalmia, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Long e... OMIM:615877
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventri... OMIM:300845
Congenital Varicella Syndrome
Microphthalmia, Cataract ORPHA:291
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... ORPHA:3092
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia, Ankyloblepharon ORPHA:85275
Temtamy Syndrome
Aortic regurgitation, Highly arched eyebrow, Ectopia lentis, Lens luxation, Chorioretinal colobom... OMIM:218340
Autosomal Dominant Epidermolytic Ichthyosis
Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoderma, Ichthyos... ORPHA:312
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Congestive heart failure, Cardiomegaly OMIM:300886
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Takotsubo cardiomyopathy ORPHA:363549
Walker-Warburg Syndrome
Retinal detachment, Skeletal muscle atrophy, Cataract, Corneal opacity, Anophthalmia, Chorioretin... ORPHA:899
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... ORPHA:45452
Duchenne Muscular Dystrophy
Calf muscle hypertrophy, Cardiomyopathy, Flexion contracture, Skeletal muscle atrophy ORPHA:98896
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Osteoporosis-Pseudoglioma Syndrome
Retinal detachment, Corneal opacity, Abnormal vitreous humor morphology, Exudative retinopathy, E... ORPHA:2788
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Flexion contracture, Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior syn... OMIM:613154
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:615598
Cardiomyopathy, Dilated, 2E
Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy, Reduced systolic function OMIM:619492
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... OMIM:615745
Sorsby Pseudoinflammatory Fundus Dystrophy
Blindness, Large central visual field defect, Visual loss, Nyctalopia, Severely reduced visual ac... ORPHA:59181
X-Linked Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri... ORPHA:98863
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia OMIM:616277
Rodrigues Blindness
Sclerocornea, Fine hair, Microcornea, Sparse hair, Microphthalmia OMIM:268320
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Cardiomyopathy ORPHA:3222
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Posterior blepharitis, Palmoplantar hy... OMIM:300918
Retinitis Pigmentosa 4
Blindness, Visual field defect, Reduced visual acuity, Nyctalopia OMIM:613731
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Dilated cardiomyopathy OMIM:619688
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy, Hypertrophic cardiomyopathy OMIM:615119
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, White eyelashes, White eyebrow, Thickened skin, Blue irides, Depigmented... ORPHA:352731
Leber Congenital Amaurosis 16
Nyctalopia, Reduced visual acuity, Visual field defect, Photophobia, Visual impairment OMIM:614186
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Optic disc pallor, Highly arched eyebrow, Congenital diaphragmatic herni... OMIM:300887
Central Areolar Choroidal Dystrophy
Visual loss, Nyctalopia, Reduced visual acuity, Slow decrease in visual acuity, Dyschromatopsia, ... ORPHA:75377
Ichthyosis Hystrix Of Curth-Macklin
Diffuse palmoplantar hyperkeratosis, Flexion contracture, Hyperkeratosis, Nail dystrophy, Ichthyosis ORPHA:79503
8Q21.11 Microdeletion Syndrome
Epicanthus, Cataract, Corneal opacity, Iris hypopigmentation, Sclerocornea, Camptodactyly of fing... ORPHA:284160
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Joint contracture, Flexion contracture OMIM:608540
3Q29 Microduplication Syndrome
Cataract, Ventricular septal defect, Sclerocornea, Camptodactyly of toe, Aniridia, Microphthalmia... ORPHA:251038
Warburg Micro Syndrome 4
Decreased muscle mass, Cryptorchidism, Flexion contracture, Low anterior hairline, Optic atrophy,... OMIM:615663
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Alopecia, Facial telangiectasia ORPHA:50944
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failur... ORPHA:49827
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy OMIM:618378
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Absent lacrimal punctum, Hypoplastic lacrimal duct, Cryptorchidism, Upslanted palpebral fissure, ... OMIM:273390
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Hypoplastic toenails, Synophrys, Acanthosi... ORPHA:444077
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... ORPHA:113
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... OMIM:120200
Snakebite Envenomation
Tachycardia, Epistaxis, Myocardial infarction, Rhabdomyolysis, Intracranial hemorrhage, Cerebral ... ORPHA:449285
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... OMIM:224700
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ... ORPHA:99095
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... ORPHA:732
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Nasolacrimal duct obstruction, Hypogonadism, Hypoplastic nipples, Small nail, Sparse hair, Arrhyt... OMIM:273400
Congenital Muscular Dystrophy, Fukuyama Type
Myopia, Dilated cardiomyopathy, Visual impairment ORPHA:272
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... OMIM:618782
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Epicanthus, Cataract, Abnormal heart morphology, Narrow palpebral fissure, Astigmatism, Retinal c... OMIM:618571
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... ORPHA:66529
Retinitis Pigmentosa Inversa With Deafness
Blindness OMIM:268010
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Facial hypotonia, Limb joint contracture, Lagophthalm... ORPHA:404454
Warburg Micro Syndrome 3
Decreased muscle mass, Cataract, Flexion contracture, Low anterior hairline, Optic atrophy, Devel... OMIM:614222
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Fl... ORPHA:35173
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur... OMIM:310200
Retinitis Pigmentosa 20
Nyctalopia, Visual impairment, Severely reduced visual acuity OMIM:613794
Albinism, Oculocutaneous, Type Vi
Photophobia, Fair hair, Reduced visual acuity, Visual impairment OMIM:113750
Tangier Disease
Myocardial infarction, Cicatricial ectropion, Facial diplegia, Distal amyotrophy, Nail dystrophy,... OMIM:205400
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Gand Syndrome
Sparse hair, Narrow palpebral fissure, Hypermetropia, Blepharophimosis OMIM:615074
Distal Duplication 6P
Abnormal hair quantity, Cataract, Abnormal eyelash morphology, Fine hair, Blepharophimosis, Aplas... ORPHA:1745
Glycogen Storage Disease Iii
Ventricular hypertrophy, Cardiomyopathy, Distal amyotrophy, Myopathy OMIM:232400
Multiple Benign Circumferential Skin Creases On Limbs
Epicanthus, Thickened skin, Cryptorchidism, Congestive heart failure, Microcornea, Microphthalmia... ORPHA:2505
Sarcosinemia
Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis ORPHA:3129
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow ORPHA:79133
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Photophobia, Central scotoma, Nyctalopia, Reduced visual acuity OMIM:616079
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Calf muscle pseudohypertrophy, Cataract, Hypoglycosylation of alpha-dystrogly... ORPHA:370959
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Moynahan Syndrome
Sparse hair, Alopecia, Hypogonadism ORPHA:2574
Familial Isolated Restrictive Cardiomyopathy
Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, Supraventricular arrhythmi... ORPHA:75249
Proboscis Lateralis
Anophthalmia, Abnormal morphology of bony orbit of skull, Microcornea, Eyelid coloboma, Abnormali... ORPHA:141099
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Pulmonary insufficiency, Tricuspid regurgitation, Pulmonic stenosis OMIM:619433
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Sparse eyelashes, Angular cheilitis, Sparse axillary hair, Sparse eyebrow, Leu... OMIM:613102
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy, Constriction of peripheral visual field, Ptosis OMIM:520000
Cavitary Optic Disc Anomalies
Nyctalopia, Reduced visual acuity, Visual field defect OMIM:611543
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Left ventricular hypertrophy, Congestive heart failure, Bradycardia, Ventricular hypertrophy OMIM:619048
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Adams-Oliver Syndrome 2
Alopecia, Low anterior hairline, Optic atrophy, Developmental cataract, Narrow palpebral fissure,... OMIM:614219
Cone Rod Dystrophy
Photophobia, Nyctalopia, Visual impairment, Color vision defect ORPHA:1872
Smith-Kingsmore Syndrome
Curly hair, Downslanted palpebral fissures, Diastasis recti, Large for gestational age OMIM:616638
Baraitser-Winter Syndrome 1
Epicanthus, Bicuspid aortic valve, Highly arched eyebrow, Cryptorchidism, Low posterior hairline,... OMIM:243310
Woolly Hair, Autosomal Dominant
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... OMIM:194300
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... ORPHA:444013
Epidermolytic Hyperkeratosis 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:620150
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Abnormal EKG, Cataract, Corneal opacity, Optic atrophy, Developmental ca... ORPHA:93400
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Retinitis Pigmentosa 11
Blindness, Constriction of peripheral visual field, Reduced visual acuity, Nyctalopia OMIM:600138
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Broad eyebrow, Epicanthus, Bicuspid aortic valve, Ventricular sep... OMIM:619343
Ceroid Lipofuscinosis, Neuronal, 7
Visual loss, Blindness OMIM:610951
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Abnormal fingernail morphology, Palmoplantar hyperkeratosis, Hyperkeratosis, Abnorma... ORPHA:89838
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Skeletal muscle atrophy, Abnormal atrioventricular conduction, Cardiomyopathy, Weakness of facial... ORPHA:329336
X-Linked Hypohidrotic Ectodermal Dysplasia
Sparse hair, Hypertension, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:181
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity, Telecanthus ORPHA:1064
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma OMIM:244850
Combined Oxidative Phosphorylation Deficiency 28
Congestive heart failure OMIM:616794
Ichthyosis, Congenital, Autosomal Recessive 1
Parakeratosis, Alopecia, Flexion contracture, Palmoplantar hyperkeratosis, Congenital ichthyosifo... OMIM:242300
Coproporphyria, Hereditary
Hypertension, Tachycardia OMIM:121300
Brittle Cornea Syndrome 1
Keratoconus, Epicanthus, Mitral valve prolapse, Keratoglobus, Abnormal cornea morphology, Decreas... OMIM:229200
Usher Syndrome, Type Iiia
Nyctalopia, Reduced visual acuity, Visual field defect OMIM:276902
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Failure to thrive, Small for gestational age OMIM:260400
Retinitis Pigmentosa 18
Nyctalopia, Progressive visual field defects, Scotoma OMIM:601414
Tsh-Secreting Pituitary Adenoma
Bitemporal hemianopia, Abnormal visual field test, Male hypogonadism, Hypogonadotropic hypogonadi... ORPHA:91347
Lacrimoauriculodentodigital Syndrome
Lacrimal gland aplasia, Absent lacrimal punctum, Increased corneal thickness, Hypoplasia of the l... ORPHA:2363
Persistent Placoid Maculopathy
Scintillating scotoma, Metamorphopsia, Reduced visual acuity, Amblyopia ORPHA:97341
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Atransferrinemia
Congestive heart failure OMIM:209300
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Dermatoleukodystrophy
Hyperkeratosis, Thickened skin ORPHA:1659
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Congestive heart failure, Hypertrophic cardiomyopathy, Hypopigmentation of hair, Abnormal heart m... ORPHA:70472
Short Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Myopathy ORPHA:26792
Childhood-Onset Nemaline Myopathy
Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at... ORPHA:171439
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia, Abnormal heart morphology ORPHA:79264
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... OMIM:614929
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelid morphology, Thickened skin... ORPHA:2221
Retinitis Pigmentosa 3
Constriction of peripheral visual field, Ring scotoma, Nyctalopia, Reduced visual acuity, High my... OMIM:300029
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Cardiomyopathy, Myopathy, Pelvic girdle muscle weakness, Increased varia... ORPHA:119
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... OMIM:302060
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebrow, Dilated cardiom... OMIM:610768
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy OMIM:618683
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Hypertrophic cardiomyopathy OMIM:617184
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Rhabdomyolysis, Palpitations OMIM:188580
Myopathy, Centronuclear, 5
Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regur... OMIM:615959
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Cryptorchidism, Hyperkeratosis, Ichthyosis, Testicular seminoma ORPHA:281090
Myopathy, Myofibrillar, 6
Scapular winging, Facial palsy, Myofibrillar myopathy, Knee flexion contracture, EMG: myopathic a... OMIM:612954
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Curly hair, Failure to thrive, Brittle hair, Ventricular septal defect, Sma... OMIM:222470
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Incontinentia Pigmenti
Ridged nail, Uveitis, Coarse hair, Sparse hair, Atrophic, patchy alopecia, Hypoplasia of the fove... OMIM:308300
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology, Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy,... OMIM:160565
Sialidosis Type 2
Skeletal muscle atrophy, Flexion contracture, Corneal opacity, Abnormal macular morphology ORPHA:87876
Giant Axonal Neuropathy 1, Autosomal Recessive
Photophobia, Curly hair OMIM:256850
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral re... OMIM:619167
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time, Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:638
Trichothiodystrophy 6, Nonphotosensitive
Brittle hair, Slow-growing hair, Microcornea, Ichthyosis, Tiger tail banding OMIM:616943
Cln3 Disease
Blindness, Acne, Amblyopia, T-wave inversion, Bradycardia, Progressive visual loss, Left ventricu... ORPHA:228346
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Chromosome 17Q12 Duplication Syndrome
Facial hypotonia, Peters anomaly, Atrial septal defect, Microphthalmia, Downslanted palpebral fis... OMIM:614526
Migraine, Familial Hemiplegic, 3
Photophobia, Blindness OMIM:609634
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Corneal opacity, Aplasia/Hypoplasia of the abdominal wall mu... ORPHA:578
Hydrocephalus-Obesity-Hypogonadism Syndrome
Sparse facial hair, Hypergonadotropic hypogonadism, Absent facial hair, Mitral valve prolapse, Lo... ORPHA:2183
Usher Syndrome
Myopia, Blindness, Nyctalopia, Abnormal cardiovascular system physiology, Decreased fertility, Vi... ORPHA:886
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Retinitis Pigmentosa 92
Paracentral scotoma, Nyctalopia, Constriction of peripheral visual field, Visual impairment OMIM:619614
Double Outlet Right Ventricle
Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Hypoplastic ... ORPHA:3426
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Epicanthus, Cataract, Retinal pigment epithelial mottling, Sparse hair, Microphthalmia, Downslant... OMIM:614105
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Pparg-Related Familial Partial Lipodystrophy
Dysmenorrhea, Congestive heart failure, Pancreatitis, Secondary amenorrhea, Primary amenorrhea, H... ORPHA:79083
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Plantar hyperkeratosis, Brittle hair, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... OMIM:104100
Nicolaides-Baraitser Syndrome
Alopecia, Eczema, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, Cryptorchidism, ... ORPHA:3051
Zellweger Syndrome
Epicanthus, Cataract, Corneal opacity, Abnormal chorioretinal morphology, Ventricular septal defe... ORPHA:912
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Reduced systolic function, Failure to thrive in infancy OMIM:618805
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Abnormality of retinal pigmentation, Juvenile cataract, Sparse hair ORPHA:1264
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Porokeratosis Of Mibelli
Hyperkeratosis, Porokeratosis ORPHA:735
Trichodental Dysplasia
Sparse hair, Brittle hair, Slow-growing hair, Fine hair OMIM:601453
Combined Oxidative Phosphorylation Deficiency 22
Congestive heart failure, Pulmonary arterial hypertension OMIM:616045
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Leber Congenital Amaurosis 4
Blindness, Reduced visual acuity, Nyctalopia OMIM:604393
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy ORPHA:295
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... OMIM:614473
16Q24.3 Microdeletion Syndrome
Myopia, Ventricular septal defect, Highly arched eyebrow, Abnormal hair pattern, Cryptorchidism, ... ORPHA:261250
Congenital Ichthyosiform Erythroderma
Alopecia, Keratitis, Corneal erosion, Palmoplantar keratoderma, Ichthyosis, Abnormality of the na... ORPHA:79394
Cone-Rod Dystrophy 15
Constriction of peripheral visual field, Nyctalopia, Photophobia, Progressive visual loss, Color ... OMIM:613660
Prolonged Electroretinal Response Suppression 2
Photophobia, Difficulty adjusting to changes in luminance, Mildly reduced visual acuity, Reduced ... OMIM:620344
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Mitochondrial Complex I Deficiency, Nuclear Type 15
Myopathy, Hypertrophic cardiomyopathy, Flexion contracture OMIM:618237
Arthrogryposis And Ectodermal Dysplasia
Absent eyebrow, Skeletal muscle atrophy, Entropion, Trichiasis, Hyperkeratosis, Nuclear cataract,... OMIM:601701
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia, Concave nail, Cryptorchidism, Blue irides, Fine hair, Abnormal h... OMIM:300978
Björnstad Syndrome
Alopecia, Brittle hair, Hypogonadism ORPHA:123
Craniofrontonasal Syndrome
Ridged nail, Curly hair, Telecanthus, Unilateral breast hypoplasia, Split nail, Congenital diaphr... OMIM:304110
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Blindness, Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Axin2-Related Attenuated Familial Adenomatous Polyposis
Sparse hair ORPHA:401911
Night Blindness, Congenital Stationary, Type 1H
Hypermetropia, Photophobia, Nyctalopia, Mild myopia OMIM:617024
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair, Downslanted palpebral fissures, Diastasis recti, Large for gestational age ORPHA:457485
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Cataract, Optic nerve hypoplasia, Muscular dystrophy, Microphthalmia OMIM:615181
Cornelia De Lange Syndrome 2
Thick eyebrow, Highly arched eyebrow, Synophrys, Low anterior hairline, Long eyelashes, Hypertrop... OMIM:300590
Maternal Uniparental Disomy Of Chromosome X
Congestive heart failure, Azoospermia, Low posterior hairline ORPHA:261519
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... ORPHA:439
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... ORPHA:542306
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Scapular winging, Bidirectional ventricular ectopy, Syncope, Palpitations,... OMIM:170390
Gyrate Atrophy Of Choroid And Retina
Myopia, Blindness, Constriction of peripheral visual field, Abnormal hair morphology, Progressive... ORPHA:414
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Myopia, Epicanthus, Synophrys, Nyctalopia, Downslanted palpebral fissures, Ptosis ORPHA:1390
Familial Partial Lipodystrophy, Dunnigan Type
Dysmenorrhea, Congestive heart failure, Pancreatitis, Secondary amenorrhea, Abnormality of the na... ORPHA:2348
Congenital Disorder Of Glycosylation, Type It
Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated cardiomyopath... OMIM:614921
Retinitis Pigmentosa 85
Progressive night blindness, Reduced visual acuity OMIM:618345
Trisomy 13
Cataract, Anophthalmia, Ventricular septal defect, Abnormal eyelash morphology, Cryptorchidism, A... ORPHA:3378
Macular Dystrophy, Retinal, 4
Nyctalopia, Reduced visual acuity OMIM:619977
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Hypergonadotropic hypogonadism, Photophobia, Sparse body hair, Aplas... ORPHA:2850
Retinitis Pigmentosa 1
Myopia, Constriction of peripheral visual field, Scotoma, Nyctalopia, Reduced visual acuity OMIM:180100
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Thickened skin, Ocular albinism, Hyp... ORPHA:79431
Mitochondrial Complex I Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy OMIM:618229
Night Blindness, Congenital Stationary, Type1I
Tritanomaly, Nyctalopia OMIM:618555
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Plantar telangiectasia, Sparse scalp hair, Alopecia, Absent eyebrow, Palpebral edema, Absent eyel... ORPHA:69735
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... ORPHA:1055
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Retinal Cone Dystrophy 3B
Myopia, Scotoma, Nyctalopia, Reduced visual acuity, Photophobia OMIM:610356
Aredyld
Generalized hypotrichosis OMIM:207780
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Congestive heart failure, Abnormal heart valve morphology, Heart murmur ORPHA:3400
Adams-Oliver Syndrome 4
Ventricular septal defect, Hypoplastic toenails, Atrial septal defect, Microphthalmia, Toenail dy... OMIM:615297
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Hypogonadism, Decreased testicular size, Sparse body hair ORPHA:261483
Hutchinson-Gilford Progeria Syndrome
Congestive heart failure, Alopecia, Angina pectoris, Myocardial infarction OMIM:176670
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Microcornea, Iris transillumination defect, Coloboma, Shallow orbits, Microphthalmia OMIM:617306
Ogden Syndrome
Atrial septal defect, Torticollis, Bicuspid aortic valve, Left atrial enlargement, Ventricular se... OMIM:300855
Chime Syndrome
Epicanthus, Corneal opacity, Ventricular septal defect, Pulmonary valve atresia, Fine hair, Upsla... ORPHA:3474
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Female infertility, Situs inversus totalis, Bronchiectasis, Chronic rhinitis OMIM:617577
Oculocerebrocutaneous Syndrome
Alopecia, Corneal opacity, Abnormal fingernail morphology, Congenital diaphragmatic hernia, Crypt... ORPHA:1647
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Heart murmur, Hyp... OMIM:615418
Bothnia Retinal Dystrophy
Large central visual field defect, Ring scotoma, Central scotoma, Nyctalopia, Visual field defect... ORPHA:85128
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Ectropion ORPHA:411777
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Skeletal muscle atrophy, Portal hypertension, Congestive heart failure, Dilated cardiomyopathy, F... ORPHA:367
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Duplicated lacrimal punctum, Highly arched eyebrow... ORPHA:572333
Congenital Myopathy 8
Congestive heart failure, Cardiomegaly OMIM:618654
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Cardiac myxoma, Pulmonic valve m... ORPHA:615
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Arrhythmia OMIM:249270
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Bjornstad Syndrome
Alopecia, Brittle hair, Dry hair, Coarse hair, Hypogonadism, Hair shafts flattened at irregular i... OMIM:262000
Leber Congenital Amaurosis 3
Visual loss, Nyctalopia, Constriction of peripheral visual field OMIM:604232
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Sparse scalp hair, Epicanthus, Abnormal fingernail morphology, Hypoplastic toenails, Cryptorchidi... ORPHA:2701
Non-Involuting Congenital Hemangioma
Congestive heart failure, Telangiectasia of the skin ORPHA:141179
Amoebic Keratitis
Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor... ORPHA:67043
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Abnormal hemidiaphragm morphology... ORPHA:980
Congenital Generalized Lipodystrophy
Congestive heart failure, Low anterior hairline, Hypertrichosis, Low posterior hairline, Oligomen... ORPHA:528
Retinitis Pigmentosa 68
Nyctalopia, Reduced visual acuity, Visual field defect OMIM:615725
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Telecanthus, Corneal opacity, Optic nerve hypoplasia, Ventricular septal defect, Cryptorchidism, ... OMIM:301056
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus
Microcornea, Posterior subcapsular cataract, Telecanthus, Chorioretinal degeneration OMIM:615458
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Abnormal pulmonary valve morphology, Congestive heart failure, Cryptorchidism, Abnormal aortic va... ORPHA:1194
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Abnormal eyelid morphology, Low anterior hairline, Upper eyelid coloboma, Coarse ha... ORPHA:2095
Dermoodontodysplasia
Sparse scalp hair, Abnormal eyelid morphology, Fingernail dysplasia, Trichodysplasia, Toenail dys... ORPHA:1660
16P12.1P12.3 Triplication Syndrome
Atrial septal defect, Tachycardia, Abnormal tricuspid valve morphology, Abnormal heart morphology ORPHA:485405
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy ORPHA:67048
Blue Cone Monochromacy
Blue cone monochromacy, Myopia, Reduced visual acuity, Photophobia, Visual impairment OMIM:303700
Chromosome 6Pter-P24 Deletion Syndrome
Epicanthus, Telecanthus, Ventricular septal defect, Patent foramen ovale, Tetralogy of Fallot, Te... OMIM:612582
Hemochromatosis, Type 4
Cardiomyopathy, Arrhythmia OMIM:606069
Cone-Rod Dystrophy 21
Photophobia, Nyctalopia, Reduced visual acuity OMIM:616502
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormality of the orbital region,... ORPHA:42775
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fragile nails, Fine hair ORPHA:500166
Alg9-Cdg
Torticollis, Tricuspid regurgitation, Ventricular septal defect, Hypoplasia of the musculature, P... ORPHA:79328
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Lymphedema-Distichiasis Syndrome
Ectropion, Ventricular septal defect, Yellow nails, Tetralogy of Fallot, Corneal ulceration, Conj... OMIM:153400
Lissencephaly 8
Microphthalmia, Cataract, Optic atrophy, Skeletal muscle atrophy OMIM:617255
Peroxisome Biogenesis Disorder 9B
Cardiomyopathy, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity OMIM:614879
Leukodystrophy, Hypomyelinating, 14
Blindness OMIM:617899
Juvenile Sialidosis Type 2
Cataract, Corneal opacity, Optic atrophy, Abnormal heart morphology, Generalized hypertrichosis, ... ORPHA:93399
Lichen Planopilaris
Alopecia, Abnormal fingernail morphology, Hyperkeratosis, Onycholysis, Pterygium ORPHA:525
Stuve-Wiedemann Syndrome 2
Congestive heart failure, Eczema, Pulmonary arterial hypertension OMIM:619751
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest OMIM:618235
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect, High myopia OMIM:607598
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Blindness, Epistaxis, Albinism, Hematochezia, Cardiomyopathy, Photophob... OMIM:203300
Lichen Planus Pemphigoides
Hyperkeratosis, Conjunctivitis, Abnormality of the nail, Blepharitis ORPHA:254478
Proximal Myopathy With Extrapyramidal Signs
Cardiomyopathy, Central core regions in muscle fibers, Increased variability in muscle fiber diam... ORPHA:401768
Gitelman Syndrome
Prolonged QT interval, Rhabdomyolysis, Ventricular tachycardia, Palpitations, Hypotension OMIM:263800
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... OMIM:613573
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Chorioretinal dysplasia, Abnormal eyelid morphology, Abnormal optic nerve morpholog... ORPHA:2526
Leber Congenital Amaurosis 2
Photophobia, Blindness, Reduced visual acuity, Nyctalopia OMIM:204100
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Rhabdomyolysis, Hypotension OMIM:145600
19Q13.11 Microdeletion Syndrome
Cataract, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Fine hair, Microcornea... ORPHA:217346
Hydroa Vacciniforme
Superficial dermal perivascular inflammatory infiltrate, Telangiectasia of the skin, Eczema, Kera... ORPHA:330058
Macular Dystrophy, Patterned, 1
Photophobia, Nyctalopia, Metamorphopsia, Reduced visual acuity OMIM:169150
Epidermolytic Palmoplantar Keratoderma
Abnormal fingernail morphology, Interphalangeal joint contracture of finger, Hypergranulosis, Epi... ORPHA:2199
Ulerythema Ophryogenesis
Hyperkeratotic papule, Follicular hyperkeratosis, Sparse lateral eyebrow ORPHA:3406
Filippi Syndrome
Ventricular septal defect, Cryptorchidism, Sparse hair, Frontal hirsutism, Visual impairment, Hyp... OMIM:272440
Corneal Dystrophy, Gelatinous Drop-Like
Photophobia, Reduced visual acuity, Visual impairment, Blurred vision OMIM:204870
Sialidosis Type 1
Skeletal muscle atrophy, Cataract, Corneal opacity, Hyperkeratosis, Cherry red spot of the macula... ORPHA:812
Nance-Horan Syndrome
Microcornea, Microphthalmia, Retinal detachment, Cataract ORPHA:627
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Hypogonadotropic hypogonadism, Bilateral cryptorchidism, Congestive heart f... ORPHA:2326
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Cataract, Retinal detachment, Poliosis, Abnormal ... ORPHA:3437
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Congestive heart failure, Lymphadenitis, Dilated cardiomyopathy, Hematochezia, Cardiomyop... OMIM:615895
Adult-Onset Distal Myopathy Due To Vcp Mutation
Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta... ORPHA:329478
Ritscher-Schinzel Syndrome 4
Downslanted palpebral fissures, Cryptorchidism, Curly hair OMIM:619435
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Cataract, Corneal opacity, Iris hypopigmentation, Cryptorchidism, Ocula... ORPHA:2719
Hec Syndrome
Abnormal retinal vascular morphology, Abnormal pupil morphology, Vaginal hydrocele, Developmental... ORPHA:2119
Friedreich Ataxia
Abnormal EKG, Congestive heart failure, Reduced visual acuity, Visual field defect, Hypertrophic ... OMIM:229300
Incontinentia Pigmenti
Uveitis, Abnormal toenail morphology, Abnormality of the nail, Alopecia, Abnormal chorioretinal m... ORPHA:464
Wagro Syndrome
Cataract, Corneal opacity, Hypertension, Aniridia, Downslanted palpebral fissures, Decreased test... OMIM:612469
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, EM... ORPHA:99901
Cone-Rod Dystrophy 2
Blindness, Metamorphopsia, Constriction of peripheral visual field, Central scotoma, Nyctalopia, ... OMIM:120970
Noonan Syndrome 11
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:618499
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Ifap Syndrome 2
Angular cheilitis, Keratitis, Posterior blepharitis, Photophobia, Keratoconjunctivitis sicca, Nai... OMIM:619016
Autosomal Recessive Progressive External Ophthalmoplegia
Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Cardiomyopathy, M... ORPHA:254886
Methanol Poisoning
Blindness, Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atria... ORPHA:31825
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Epicanthus, Cataract, Ventricular septal defect, Microcornea, Pulmonary art... OMIM:616449
Keratoderma Hereditarium Mutilans With Ichthyosis
Parakeratosis, Alopecia, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Palmoplantar hyp... ORPHA:79395
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Blindness, Abnormal atrioventricular conduction, Reduced visual acu... ORPHA:3208
Retinitis Pigmentosa 62
Nyctalopia, Reduced visual acuity, Visual field defect OMIM:614181
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Anophthalmia, Optic nerve hypoplasia, Retinal dystrophy, C... OMIM:610125
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, Arrhythmia, EMG: myo... OMIM:609286
Kapur-Toriello Syndrome
Cataract, Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Low posterior hairl... OMIM:244300
Retinitis Pigmentosa 17
Photophobia, Nyctalopia, Color vision defect OMIM:600852
Marshall-Smith Syndrome
Ventricular septal defect, Premature ventricular contraction, Hypertension, Atrial septal defect,... OMIM:602535
American Trypanosomiasis
Skin rash, Myocarditis, Congestive heart failure, Cardiomyopathy, Arrhythmia, Infectious encephal... ORPHA:3386
Retinal Cone Dystrophy 3A
Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Dyschromatopsia OMIM:610024
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail ORPHA:1882
Gm1-Gangliosidosis, Type I
Abnormal heart valve morphology, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic c... OMIM:230500
Fleck Retina, Familial Benign
Nyctalopia, Visual impairment OMIM:228980
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Xp22.3 Microdeletion Syndrome
Aplasia/Hypoplasia affecting the eye, Opacification of the corneal stroma, Polycystic ovaries ORPHA:1643
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Telecanthus, Reduced visual acuity, Atopic dermatitis, Blepharophimosis, Visual impairment, Ptosis OMIM:606772
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Retinitis Pigmentosa
Blindness, Photophobia, Hypogonadism, Progressive night blindness, Abnormal testis morphology, Vi... ORPHA:791
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Pulmonary arterial hypertension OMIM:619003
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Myopia, Nyctalopia, High myopia, Upslanted palpebral fissure, Hypertension, Patchy alopecia, Spar... OMIM:617763
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Bradycardia, Muscular dystroph... OMIM:614302
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Peroxisome Biogenesis Disorder 2A (Zellweger)
Epicanthus, Cataract, Palpebral edema, Brushfield spots, Cryptorchidism, Optic nerve dysplasia, A... OMIM:214110
Retinitis Pigmentosa 2
Pericentral scotoma, Myopia, Constriction of peripheral visual field, Ring scotoma, Central scoto... OMIM:312600
Retinopathy, Pericentral Pigmentary, Dominant
Blindness, Nyctalopia OMIM:180210
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Hypopigmentation of hair, Cataract, Epistaxis, Thickened skin, Ocula... ORPHA:79430
Axenfeld-Rieger Syndrome, Type 2
Telecanthus, Cryptorchidism, Abnormal heart morphology, Microcornea, Opacification of the corneal... OMIM:601499
Microphthalmia, Isolated 8
Retinal detachment, Anophthalmia, Entropion, Optic nerve hypoplasia, Hypoplastic optic chiasm, Re... OMIM:615113
Rapidly Involuting Congenital Hemangioma
Congestive heart failure, Telangiectasia of the skin ORPHA:141184
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Generalized ichthyosis, Absent ax... ORPHA:2269
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Epicanthus, Bicuspid aortic valve, Ven... ORPHA:363705
Malonyl-Coa Decarboxylase Deficiency
Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy OMIM:248360
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Rhabdomyolysis, Dilated cardiomyopathy, Ankle flexion contracture OMIM:618120
Oculodentodigital Dysplasia, Autosomal Recessive
Epicanthus, Cataract, Sparse eyelashes, Telecanthus, Fine hair, Microcornea, Persistent pupillary... OMIM:257850
Cerebrooculofacioskeletal Syndrome 1
Cataract, Cryptorchidism, Flexion contracture, Elbow flexion contracture, Knee flexion contractur... OMIM:214150
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Epicanthus, Ventricular septal defect, Cryptorchidism, Bilateral microphthalmos, Low anterior hai... ORPHA:369891
Ectodermal Dysplasia 13, Hair/Tooth Type
Brittle hair, Sparse eyelashes, Low anterior hairline, Thin eyebrow, Downslanted palpebral fissures OMIM:617392
Leber Congenital Amaurosis 14
Photophobia, Congenital blindness, Nyctalopia, Reduced visual acuity OMIM:613341
Retinitis Pigmentosa 63
Nyctalopia, Blurred vision OMIM:614494
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Neonatal Lupus Erythematosus
Prolonged QT interval, Maculopapular exanthema, Skin rash, Heart block, Dilated cardiomyopathy, A... ORPHA:398124
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Cataract, Ventricular septal defect ORPHA:93267
Blepharocheilodontic Syndrome 1
Lagophthalmos, Ectropion of lower eyelids, Euryblepharon, Nail dysplasia, Small nail, Sparse hair... OMIM:119580
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Epicanthus, Optic nerve hypoplasia, Hyperopic astigmatism, Fine hair, Upslanted palpebral fissure... ORPHA:363686
Late-Onset Retinal Degeneration
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus... ORPHA:67042
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Subretinal fluid, Exudative retinal detachment, Microph... ORPHA:209956
Fundus Albipunctatus
Nyctalopia, Fundus albipunctatus OMIM:136880
Combined Oxidative Phosphorylation Deficiency 54
Tachycardia, Lower limb muscle weakness OMIM:619737
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Scarring alopecia of scalp, Optic atrophy, Ectopia pupillae, Astigmatism, Microphthalmi... OMIM:618727
Usher Syndrome, Type 1M
Left ventricular hypertrophy, Nyctalopia OMIM:618632
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Ventricular septal defect, Sclerocornea, Cryptorchidism, Microphthalmia, Iris coloboma ORPHA:77298
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... OMIM:225060
Congenital Muscular Dystrophy Due To Lmna Mutation
Congestive heart failure, Arrhythmia ORPHA:157973
Bresek Syndrome
Alopecia, Optic nerve hypoplasia, Cryptorchidism, Ichthyosis, Microphthalmia, Iris coloboma, Decr... ORPHA:85284
Cerebrooculofacioskeletal Syndrome 2
Cataract, Camptodactyly of finger, Developmental cataract, Sparse hair, Microphthalmia OMIM:610756
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Constrictive pericarditis, Abnormal conjunctiva morphology OMIM:602248
Focal Facial Dermal Dysplasia Type Iii
Epicanthus, Sparse lower eyelashes, Abnormal hair pattern, Highly arched eyebrow, Sparse hair, Di... ORPHA:1807
Aarskog-Scott Syndrome
Epicanthus, Congestive heart failure, Cryptorchidism, High anterior hairline, Downslanted palpebr... ORPHA:915
Bilateral Acute Depigmentation Of The Iris
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... ORPHA:69736
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Ske... OMIM:300280
Lowry-Maclean Syndrome
Corneal opacity, Congenital diaphragmatic hernia, Bilateral cryptorchidism, Developmental glaucom... ORPHA:2409
Heyn-Sproul-Jackson Syndrome
Sparse hair, Epicanthus OMIM:618724
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Nanophthalmos 2
Microphthalmia OMIM:609549
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Night Blindness, Congenital Stationary, Type 1F
Congenital stationary night blindness, Nyctalopia, Reduced visual acuity, High myopia OMIM:615058
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Late-Onset Retinal Degeneration
Visual loss, Adult-onset night blindness, Scotoma OMIM:605670
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end... OMIM:620152
Muscular Dystrophy, Congenital, Megaconial Type
Facial palsy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, Increased endomysial connecti... OMIM:602541
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosifo... OMIM:613576
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Ocular albinism, Upslanted palpebral fissure, Abnormal cardiac septum morphology, Blepharophimosi... ORPHA:1352
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Hypertension, Cardiomyopathy OMIM:102200
Bazex-Dupre-Christol Syndrome
Eczema, Atopic dermatitis, Coarse hair, Sparse hair, Trichoepithelioma, Acne inversa, Pili torti,... OMIM:301845
Bathing Suit Ichthyosis
Parakeratosis, Alopecia, Multiple joint contractures, Thickened skin, Palmoplantar hyperkeratosis... ORPHA:100976
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse scalp hair, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Scarring alopecia of sc... ORPHA:59303
Retinitis Pigmentosa 19
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity, Visual impairment OMIM:601718
Acquired Aneurysmal Subarachnoid Hemorrhage
Constriction of peripheral visual field, Myocardial infarction, Cerebral hemorrhage, Congestive h... ORPHA:90065
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Arrhythmia, Facial palsy, Conjunctival hyperemia ORPHA:68
Hemochromatosis, Type 3
Hypogonadotropic hypogonadism, Cardiomyopathy, Impotence, Arthritis, Amenorrhea OMIM:604250
Chromosome 8Q21.11 Deletion Syndrome
Epicanthus, Cataract, Sclerocornea, Cryptorchidism, Pigmentary retinopathy, Camptodactyly, Microp... OMIM:614230
Mitochondrial Complex I Deficiency, Nuclear Type 20
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy OMIM:611126
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Frontofacionasal Dysplasia
Telecanthus, Cataract, Ankyloblepharon, Microcornea, Eyelid coloboma, S-shaped palpebral fissures... OMIM:229400
Macrophthalmia, Colobomatous, With Microcornea
Flat cornea, Macular atrophy, Optic disc coloboma, Increased axial length of the globe, Microcorn... OMIM:602499
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, Ridged fingernail ORPHA:2251
Jacobsen Syndrome
Epicanthus, Telecanthus, Ventricular septal defect, Abnormal eyelash morphology, Cryptorchidism, ... OMIM:147791
Carnitine Deficiency, Systemic Primary
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Myopathy, Reduced m... OMIM:212140
Sengers Syndrome
Cardiac arrest, Sudden cardiac death, Myopathy, Pulmonary arterial hypertension, Hypertrophic car... OMIM:212350
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Visual impairment OMIM:614299
Ichthyosis, Congenital, Autosomal Recessive 2
Alopecia, Thin nail, Hypergranulosis, Abnormal hair morphology, Hyperkeratosis, Congenital ichthy... OMIM:242100
Eem Syndrome
Abnormality of vision, Sparse scalp hair, Absent eyebrow, Sparse body hair ORPHA:1897
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Retinal detachment, Epicanthus, Cataract, Long palpebral fissure, Microphthalmia, Hypopigmentatio... ORPHA:163649
Neutrophilic Dermatosis, Acute Febrile
Dilated cardiomyopathy, Panniculitis, Cystic acne, Small vessel vasculitis, Acne inversa OMIM:608068
Leber Congenital Amaurosis 1
Photophobia, Blindness, Reduced visual acuity, Nyctalopia OMIM:204000
Immune-Mediated Necrotizing Myopathy
Myositis, Skin rash, Raynaud phenomenon, Congestive heart failure, Myocarditis, Palpitations ORPHA:206569
Mucopolysaccharidosis-Plus Syndrome
Epicanthus, Telecanthus, Congestive heart failure, Synophrys, Recurrent pneumonia, Low anterior h... OMIM:617303
Retinitis Pigmentosa 69
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity OMIM:615780
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension, Corneal opacity, Congenital diaphragmatic hernia OMIM:166300
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Blindness OMIM:607674
Retinitis Pigmentosa 79
Photophobia, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity OMIM:617460
3Mc Syndrome 3
Corneal opacity, Diastasis recti, Highly arched eyebrow, Cryptorchidism, Blepharophimosis, Epican... OMIM:248340
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Skeletal muscle atrophy, Hypertrophic cardiomyopathy OMIM:616896
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosi... OMIM:173200
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair ORPHA:2985
Retinitis Pigmentosa 76
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity OMIM:617123
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Epicanthus, Downslanted palpebral fissures, Ventricular septal defect OMIM:602501
Hypodontia-Dysplasia Of Nails Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Thin toenail, Ridged fingernail,... ORPHA:2228
Carnitine Palmitoyl Transferase 1A Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia, Sudden cardiac death ORPHA:156
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Achilles tendon contracture, Dilated cardiomyopathy, Abnormal left ventricular function, Macroglo... OMIM:607155
Heart Block, Congenital
Atrioventricular block, Myocardial fibrosis, Absent atrioventricular node, Myocardial calcificati... OMIM:234700
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Synophrys, Asymmetric septal hypertrophy, Coarse hair, Hirsutism OMIM:252920
Hawkinsinuria
Sparse hair, Failure to thrive, Fine hair ORPHA:2118
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... OMIM:261740
Phace Association
Ventricular septal defect, Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental ... OMIM:606519
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Blindness ORPHA:2787
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Epicanthus, Sparse eyebrow, Sparse hair, Downslanted palpebral fissures, Ptosis OMIM:619989
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Leukoencephalopathy With Vanishing White Matter 1
Blindness, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea OMIM:603896
Hurler-Scheie Syndrome
Aortic regurgitation, Corneal opacity, Camptodactyly of finger, Thenar muscle atrophy, Thickened ... OMIM:607015
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Rhabdomyolysis, Cardiomyopathy, Myopathy, Arrhythmia ORPHA:228305
Usher Syndrome Type 3
Scotoma, Visual loss, Nyctalopia, Hemianopia, High hypermetropia ORPHA:231183
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... ORPHA:248
Unilateral Ocular Duplication
Abnormal eyebrow morphology, Abnormal pupil morphology, Microcornea, Blepharophimosis, Iris coloboma ORPHA:3374
Chromomycosis
Keratitis, Hyperparakeratosis, Hyperkeratosis, Keratoconjunctivitis sicca, Eyelid retraction, Hyp... ORPHA:182
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Lacrimal duct atresia, Iris coloboma ORPHA:139450
Fucosidosis
Decreased muscle mass, Corneal opacity, Cardiomegaly, Generalized hyperkeratosis, Abnormality of ... ORPHA:349
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cardiomyopathy, Flexion contracture, Myopathy, Nemaline bodies OMIM:616549
Alopecia Antibody Deficiency
Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair ORPHA:1006
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea OMIM:251750
Mitochondrial Complex I Deficiency, Nuclear Type 6
Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy OMIM:618228
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, R... ORPHA:85167
Retinitis Pigmentosa 47
Nyctalopia, Visual impairment OMIM:613758
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Abnormally large globe, Flexion contracture, Coloboma, Muscular dystrophy, Microphthalm... OMIM:615249
Koolen-De Vries Syndrome
Epicanthus, Cataract, Hypopigmentation of hair, Bicuspid aortic valve, Abnormality of hair textur... ORPHA:96169
Ceroid Lipofuscinosis, Neuronal, 1
Blindness, Progressive visual loss OMIM:256730
Retinitis Pigmentosa 7
Nyctalopia, Constriction of peripheral visual field, Adult-onset night blindness OMIM:608133
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Congestive heart failure, Arrhythmia, Arthritis ORPHA:85446
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity, Camptodactyly of finger ORPHA:2741
Oculocerebrocutaneous Syndrome
Alopecia, Anophthalmia, Cryptorchidism, Orbital cyst, Eyelid coloboma, Microphthalmia OMIM:164180
Infantile Refsum Disease
Constriction of peripheral visual field, Nyctalopia, Cardiomyopathy, Arrhythmia, Visual impairment ORPHA:772
Mmep Syndrome
Microphthalmia, Cryptorchidism, Ventricular septal defect ORPHA:3434
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Atrial septal defect, Congestive heart failure, Highly arched eyebrow ORPHA:500533
Cohen Syndrome
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Ventricular septal defect, Thick ha... ORPHA:193
20P12.3 Microdeletion Syndrome
Wolff-Parkinson-White syndrome, Atrial septal defect ORPHA:261295
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vasculit... ORPHA:3287
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Tyrosinemia Type 2
Hyperkeratosis, Palmoplantar keratoderma, Corneal opacity, Abnormality of the nail ORPHA:28378
Costello Syndrome
Deep-set nails, Curly hair, Epicanthus, Ventricular septal defect, Thin nail, Rhabdomyosarcoma, C... OMIM:218040
Symptomatic Form Of Hfe-Related Hemochromatosis
Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegaly, Congestive heart failure, Cardi... ORPHA:465508
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Wolff-Parkinson-White syndrome, Blindness, Visual loss, Progressive visual loss, Visual impairment OMIM:601338
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hypertrophic cardiomyopathy OMIM:620270
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Myopia, Epicanthus, Fine hair, Blepharophimosis, Ptosis ORPHA:3236
Stiff-Person Syndrome
Tachycardia, Hypertension, Proximal limb muscle stiffness, Asymmetric limb muscle stiffness, Axia... OMIM:184850
Oculogastrointestinal Neurodevelopmental Syndrome
Unilateral ptosis, Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos, Co... OMIM:619318
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy OMIM:618321
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... OMIM:620300
Trichothiodystrophy 7, Nonphotosensitive
Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat... OMIM:618546
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... ORPHA:95459
Partial Atrioventricular Septal Defect
Atrial flutter, Angina pectoris, Transient ischemic attack, Bicuspid aortic valve, Coronary sinus... ORPHA:1330
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Blindness, Uveitis, Posterior retinal neovascularization, ... OMIM:193235
Kapur-Toriello Syndrome
Ventricular septal defect, Retinal coloboma, Microphthalmia, Tetralogy of Fallot, Iris coloboma ORPHA:2328
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Congestive heart failure, Diplopia, Peripheral visual field loss, Cardiomyopathy, V... OMIM:619259
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hyperkeratosis, Plantar hyperkeratosis, Nail dystrophy, Palmar hyperkeratosis ORPHA:79399
Classic Mycosis Fungoides
Hyperkeratosis, Alopecia, Abnormality of the nail, Abnormal eyelid morphology ORPHA:2584
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Retinitis Pigmentosa 61
Nyctalopia, Visual impairment OMIM:614180
Oculodentodigital Dysplasia
Atrial septal defect, Epicanthus, Cataract, Dry hair, Slow-growing hair, Uveitis, Fine hair, Micr... OMIM:164200
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Flexion contrac... OMIM:616866
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Central scotoma, Red-green dyschromatopsia, Reduced visual acuity, Centrocecal scotoma, Tritanoma... OMIM:125250
Premature Ovarian Failure 13
Oligomenorrhea, Female infertility, Amenorrhea OMIM:617442
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
Gm1 Gangliosidosis
Corneal opacity, Ventricular septal defect, Camptodactyly of finger, Abnormal retinal vascular mo... ORPHA:354
Frontorhiny
Epicanthus, Cataract, Camptodactyly of finger, Widow's peak, Microphthalmia, Hypopituitarism, Iri... ORPHA:391474
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Syncope, Palpitations ORPHA:324575
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Cone-Rod Dystrophy 16
Photophobia, Nyctalopia, Reduced visual acuity, Progressive visual loss OMIM:614500
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Abnormality of the menstrual cycle, Congestive h... ORPHA:90308
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemi... ORPHA:183
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... OMIM:612310
Otodental Syndrome
Cataract, Lens coloboma, Microcornea, Retinal coloboma, Microphthalmia, Iris coloboma ORPHA:2791
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hepatic necrosis OMIM:231530
Hurler Syndrome
Aortic regurgitation, Corneal opacity, Bilateral ptosis, Flexion contracture, Cardiomyopathy, Mac... OMIM:607014
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Chorioretinal dysplasia, Sclerocornea, Abnormal eyelid morphology, Congenital diaph... ORPHA:2556
Mitochondrial Trifunctional Protein Deficiency 1
Small for gestational age, Congestive heart failure, Dilated cardiomyopathy, Rhabdomyolysis, Myop... OMIM:609015
Usher Syndrome Type 1
Scotoma, Visual loss, Nyctalopia, Hemianopia, High hypermetropia ORPHA:231169
Retinitis Pigmentosa 38
Nyctalopia, Constriction of peripheral visual field, Progressive visual loss OMIM:613862
Acrofrontofacionasal Dysostosis 1
Iris atrophy, Long eyebrows, Widow's peak, Optic atrophy, Long eyelashes, S-shaped palpebral fiss... OMIM:201180
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Epicanthus, Alopecia, Brittle hair, Upslanted palpebral fissure, Failure to thrive ORPHA:50812
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Alopecia, Epicanthus, Mitral regurgitation, Restrictive cardiomyopathy, Patent foramen ovale ORPHA:88630
Autosomal Recessive Cutis Laxa Type 2A
Downslanted palpebral fissures, Abnormal cornea morphology, Corneal opacity, Thick hair ORPHA:357058
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Cat Eye Syndrome
Epicanthus, Ventricular septal defect, Hypoplastic left heart, Total anomalous pulmonary venous r... OMIM:115470
Pelvis-Shoulder Dysplasia
Microphthalmia, Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma OMIM:169550
Dyskeratosis Congenita, Autosomal Dominant 2
Dilated cardiomyopathy, Premature graying of hair, White forelock, Nail dystrophy, Nail dysplasia... OMIM:613989
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Olmsted Syndrome 2
Parakeratosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar... OMIM:619208
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Hyperkeratosis, Broad eyebrow, Frontal upsweep of hair, Corneal scarring OMIM:301220
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia ORPHA:276608
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Brittle hair, Sparse eyebrow, Developmental cataract, Hydrocele testis, Hypertrophic cardiomyopathy OMIM:618810
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... ORPHA:330001
Retinitis Pigmentosa 90
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity OMIM:619007
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Episcleritis, Pericarditis, Sinusitis, Increased inflammatory respon... ORPHA:727
Infantile Liver Failure Syndrome 2
Cardiomyopathy, Prolonged prothrombin time OMIM:616483
Retinitis Pigmentosa
Nyctalopia, Constriction of peripheral visual field OMIM:268000
Retinitis Pigmentosa 30
Nyctalopia, Visual impairment OMIM:607921
Retinitis Pigmentosa 70
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity OMIM:615922
Retinitis Pigmentosa 81
Nyctalopia, Reduced visual acuity OMIM:617871
Cardiofaciocutaneous Syndrome
Brittle hair, Atrial septal defect, Sparse hair, Dystrophic fingernails, Abnormal eyelash morphol... ORPHA:1340
Charcot-Marie-Tooth Disease Type 1B
Skeletal muscle hypertrophy, Skeletal muscle atrophy, Abnormal pupil morphology ORPHA:101082
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... OMIM:614170
Hypotrichosis 14
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair OMIM:618275
Encephalocraniocutaneous Lipomatosis
Alopecia, Corneal opacity, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, A... ORPHA:2396
Arterial Tortuosity Syndrome
Myopia, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failu... ORPHA:3342
Microphthalmia, Syndromic 12
Anophthalmia, Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Hypopla... OMIM:615524
Acquired Methemoglobinemia
Tachycardia, Syncope, Palpitations, Arrhythmia ORPHA:464453
Congenital Pulmonary Lymphangiectasia
Tricuspid regurgitation, Congestive heart failure, Chylopericardium, Pulmonic stenosis, Pulmonary... ORPHA:2414
Werner Syndrome
Sparse scalp hair, Telangiectasia of the skin, Myocardial infarction, Congestive heart failure, A... ORPHA:902
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Neuropathy, Ataxia, And Retinitis Pigmentosa
Blindness OMIM:551500
Primary Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Increased muscle lipid content, Abnormality of the calf musculature, Low-output ... ORPHA:565612
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Curly hair, Downslanted palpebral fissures ORPHA:85184
Ectodermal Dysplasia/Skin Fragility Syndrome
Absent eyebrow, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dystrophic fing... OMIM:604536
Nephronophthisis 16
Situs inversus totalis, Hypertrophic cardiomyopathy, Aortic valve stenosis, Pulmonic stenosis OMIM:615382
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Hallermann-Streiff Syndrome
Myopia, Alopecia, Telecanthus, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Con... ORPHA:2108
Polyarteritis Nodosa
Raynaud phenomenon, Cardiomyopathy, Pericarditis, Hypertension ORPHA:767
Retinitis Pigmentosa 59
Cryptorchidism, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity OMIM:613861
Cyclic Vomiting Syndrome
Cardiomyopathy OMIM:500007
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Corneal dystrophy, Atrioventricular block, Muco... ORPHA:324
X-Linked Recessive Ocular Albinism
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Abnormal macula... ORPHA:54
Premature Aging Syndrome, Penttinen Type
Corneal opacity, Thickened skin, Hypermyelinated retinal nerve fibers, Palmoplantar hyperkeratosi... OMIM:601812
Oculocutaneous Albinism, Type Viii
Photophobia, Hypopigmentation of hair, Reduced visual acuity OMIM:619165
Retinitis Pigmentosa 54
Nyctalopia, Visual impairment OMIM:613428
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Cardiomegaly, Absent eyelashes, Impaired myocardial contractility, Hypovolemic sh... ORPHA:158687
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Abnormality iris morphology, Upslanted palpebral... ORPHA:250999
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Cardiomegaly OMIM:614702
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Babesiosis
Photophobia, Congestive heart failure, Myocardial infarction ORPHA:108
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Absent eyebrow, Alopecia, Ventricular septal defect, Absent eyelashes, Cryptorchidism, Nyctalopia... ORPHA:166035
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Pericarditis ORPHA:163596
Lipoid Proteinosis Of Urbach And Wiethe
Hyperkeratosis, Thickened skin, Patchy alopecia OMIM:247100
Baraitser-Winter Syndrome 2
Telecanthus, Highly arched eyebrow, Coloboma, Long palpebral fissure, Microphthalmia, Ptosis OMIM:614583
Alg1-Cdg
Cardiomyopathy, Abnormal heart morphology ORPHA:79327
Mosaic Trisomy 9
Corneal opacity, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Campto... ORPHA:99776
Trichothiodystrophy 8, Nonphotosensitive
Eczema, Sparse eyebrow, Sparse hair, Woolly hair, Trichorrhexis nodosa OMIM:619691
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Absent eyebrow, Mitral valve calcification, Absent eyelashes, Congestive... ORPHA:363618
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse hair, Eczema, Abnormal fingernail morphology, Sparse body hair ORPHA:1810
Microphthalmia, Lenz Type
Cataract, Camptodactyly of finger, Cryptorchidism, Optic disc coloboma, Ankyloblepharon, Microcor... ORPHA:568
Bardet-Biedl Syndrome 4
Cryptorchidism, Nyctalopia, Hypogonadism OMIM:615982
Choroideremia
Nyctalopia, Constriction of peripheral visual field, Progressive visual loss, Visual impairment OMIM:303100
Premature Ovarian Failure 12
Macular dystrophy, Microphthalmia OMIM:616947
Skin Creases, Congenital Symmetric Circumferential, 1
Epicanthus, Microcornea, Upslanted palpebral fissure, Hypoplastic nipples, Blepharophimosis, Micr... OMIM:156610
Alpha-Mannosidosis
Macroglossia, Cataract, Corneal opacity ORPHA:61
Hermansky-Pudlak Syndrome 3
Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Albinism, Reduced visual acuity, Visu... OMIM:614072
Autosomal Dominant Optic Atrophy Plus Syndrome
Cardiomyopathy, Limb-girdle muscle weakness, Myopathy ORPHA:1215
Joubert Syndrome 35
Telecanthus, Highly arched eyebrow, Synophrys, Nyctalopia, Progressive visual loss, Ptosis OMIM:618161
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Sparse eyelashes, Sparse eyebrow, Unilateral microphthalmos, Mitral valve prolapse, Macroorchidis... OMIM:618874
Keratoderma Hereditarium Mutilans
Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Abnormal toenail mor... ORPHA:494
Tangier Disease
Corneal opacity, Facial diplegia, Nail dystrophy, Left ventricular hypertrophy, Coronary artery s... ORPHA:31150
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Fatty replacement of skeletal muscle, Congestive heart failure, Cardiomyopathy, Generalized amyot... ORPHA:52430
Congenital Ptosis
Unilateral ptosis, Myopia, Congenital Horner syndrome, Premature ovarian insufficiency, Telecanth... ORPHA:91411
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Bardet-Biedl Syndrome 3
Nyctalopia, Tricuspid regurgitation, Visual impairment OMIM:600151
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial fibrillation, A... ORPHA:1677
Graves Disease, Susceptibility To, 1
Congestive heart failure, Onycholysis OMIM:275000
Trichothiodystrophy
Ridged nail, Brittle hair, Multiple joint contractures, Microcornea, Macular degeneration, Conjun... ORPHA:33364
Ohdo Syndrome, Sbbys Variant
Blepharophimosis, Cryptorchidism, Epicanthus inversus, Dilated cardiomyopathy OMIM:603736
Infantile Spasms-Broad Thumbs Syndrome
Hypertrophic cardiomyopathy ORPHA:3173
Trichohepatoenteric Syndrome 2
Brittle hair, Chronic hepatitis, Uncombable hair, Colitis, Sparse hair, Woolly hair, Trichorrhexi... OMIM:614602
Mucopolysaccharidosis, Type Iiia
Synophrys, Coarse hair, Hirsutism, Asymmetric septal hypertrophy OMIM:252900
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
Mucopolysaccharidosis, Type Vii
Epicanthus, Thick eyebrow, Corneal opacity, Abnormal heart valve morphology, Diastasis recti, Fle... OMIM:253220
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Cataract, Corneal opacity, Optic nerve hypoplasia, Retinal atrophy, Cryptorch... OMIM:236670
Usher Syndrome, Type Iid
Nyctalopia OMIM:611383
Ataxia With Vitamin E Deficiency
Visual impairment, Hypertrophic cardiomyopathy, Arrhythmia, Nyctalopia ORPHA:96
Retinitis Pigmentosa 33
Nyctalopia, Visual impairment OMIM:610359
Hurler Syndrome
Corneal opacity, Abnormal heart valve morphology, Camptodactyly of finger, Angina pectoris, Cardi... ORPHA:93473
Poikiloderma With Neutropenia
Plantar hyperkeratosis, Sparse eyebrow, Nasolacrimal duct obstruction, Low posterior hairline, Te... OMIM:604173
Cogan Syndrome
Aortic regurgitation, Episcleritis, Blindness, Keratitis, Vasculitis, Reduced visual acuity, Larg... ORPHA:1467
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Curly hair, Moderate myopia, Epicanthus, Mild myopia, Low anterior hairline, Hypermetropia, Upsla... OMIM:619950
Neuroocular Syndrome
Brittle hair, Synophrys, Lens coloboma, Microcornea, Patent foramen ovale, Iris coloboma, Hooded ... OMIM:619539
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey... OMIM:601952
Retinitis Pigmentosa 32
Photophobia, Nyctalopia, Reduced visual acuity OMIM:609913
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Brittle hair, Ventricular septal defect, Abnormality of the anterior pituitary, Upslant... ORPHA:75389
Primary Ciliary Dyskinesia
Male infertility, Abnormal atrial arrangement, Atrial situs ambiguous, Female infertility, Situs ... ORPHA:244
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... OMIM:193230
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Hereditary Coproporphyria
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Tachycardia ORPHA:79273
Congenital Myopathy 21 With Early Respiratory Failure
EMG: myopathic abnormalities, Hypertrophic cardiomyopathy OMIM:620326
Mcleod Syndrome
Atrial fibrillation, Rhabdomyolysis, Dilated cardiomyopathy, Cardiomyopathy, Myopathy OMIM:300842
Neurocardiofaciodigital Syndrome
Atrial septal defect, Optic disc pallor, Cataract, Sclerocornea, Sparse eyebrow, Narrow palpebral... OMIM:619869
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... ORPHA:98963
Giant Cell Arteritis
Ptosis, Pericarditis, Alopecia, Epistaxis, Sudden cardiac death, Visual loss, Diplopia, Vasculiti... ORPHA:397
Cardiocranial Syndrome, Pfeiffer Type
Cryptorchidism, Abnormal hair whorl, Abnormal heart morphology, Sparse hair, Downslanted palpebra... ORPHA:2872
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... OMIM:620067
Xeroderma Pigmentosum
Conjunctival telangiectasia, Alopecia, Cataract, Entropion, Telangiectasia of the skin, Keratitis... ORPHA:910
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Nail dystrophy OMIM:131850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Skeletal muscle atrophy, Cataract, Dilated cardiomyopathy, Optic atrophy, Myo... OMIM:253800
Intellectual Developmental Disorder, Autosomal Recessive 5
Telecanthus, Eczema, Blepharophimosis, Synophrys, Sparse hair, Thick eyebrow OMIM:611091
2Q31.1 Microdeletion Syndrome
Epicanthus, Ventricular septal defect, Camptodactyly of finger, Abnormal hair morphology, Cryptor... ORPHA:251014
Albinism, Oculocutaneous, Type Ii
Myopia, Hypopigmentation of hair, Albinism, Reduced visual acuity, Red hair, Visual impairment OMIM:203200
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Even-Plus Syndrome
Highly arched eyebrow, Synophrys, Atopic dermatitis, Sparse hair, Atrial septal defect, Patent fo... OMIM:616854
Progeroid Syndrome, Petty Type
Epicanthus, Brittle hair, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in ir... ORPHA:2963
Cerebrooculonasal Syndrome
Epicanthus, Blindness, Sparse eyelashes, Sparse eyebrow, Upslanted palpebral fissure ORPHA:66625
Erythrokeratodermia Variabilis Et Progressiva 4
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617526
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Blindness, Ventricular septal defect, Mitral regurgitation, Long palpebral fissure, Atrial septal... OMIM:603387
Scalp-Ear-Nipple Syndrome
Anisocoria, Sparse hair, Supraventricular tachycardia, Iris coloboma, Thickened skin, Patchy alop... OMIM:181270
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension OMIM:208000
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu... OMIM:612281
Martsolf Syndrome 1
Epicanthus, Hypogonadotropic hypogonadism, Cardiac arrest, Cryptorchidism, Congestive heart failu... OMIM:212720
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Nyctalopia, Reduced visual acuity OMIM:610156
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Overriding aorta, Ventricular septal defect, Sclerocornea, Congenital diaphragmatic her... OMIM:309801
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Low anterior hairline, Hirsutism, Upper eyelid edema, Long eyelashes, Sparse hair, Thick eyebrow OMIM:616819
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myopia, Visual loss, Nyctalopia, Photophobia, Hypertrophic cardiomyopathy ORPHA:5
Kawasaki Disease
Pericarditis, Abnormality of nail color, Abnormal heart valve morphology, Skin rash, Congestive h... ORPHA:2331
Juvenile Glaucoma
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... ORPHA:98977
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Telecanthus, Corneal opacity, Synophrys, Thin eyebrow, Small nail, Microphthalmia, Short palpebra... ORPHA:364577
Papillorenal Syndrome
Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Op... OMIM:120330
Curry-Jones Syndrome
Microphthalmia, Optic disc coloboma, Iris coloboma, Generalized hirsutism ORPHA:1553
Exudative Vitreoretinopathy 4
Vitreous hemorrhage, Blindness, Reduced visual acuity OMIM:601813
Mulibrey Nanism
Congestive heart failure, Myocardial fibrosis, Pericardial constriction, Cardiomegaly OMIM:253250
Rheumatic Fever
Pericarditis, Sinusitis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Endocarditis, A... ORPHA:3099
Eales Disease
Peripheral retinal neovascularization, Blindness, Anterior uveitis, Transient ischemic attack, Ep... ORPHA:40923
Cranioectodermal Dysplasia
Myopia, Epicanthus, Abnormal fingernail morphology, Sparse hair, High hypermetropia, Abnormal toe... ORPHA:1515
Focal Dermal Hypoplasia
Alopecia, Corneal opacity, Ventricular septal defect, Congenital diaphragmatic hernia, Ectopia le... ORPHA:2092
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Blindness, Nasolacrimal duct obstruction, Reduced visual acuity ORPHA:440727
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Ventricular septal defect, Flexion contracture, Retinal hemorrhage, Hypertension, Br... OMIM:614653
Joubert Syndrome 14
Epicanthus, Ventricular septal defect, Highly arched eyebrow, Morning glory anomaly, Optic atroph... OMIM:614424
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Blindness, Small nail, Ptosis OMIM:618731
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Fg Syndrome 3
Sparse hair, Cryptorchidism, Frontal upsweep of hair, Fine hair OMIM:300406
Pierson Syndrome
Retinal vascular tortuosity, Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the cili... OMIM:609049
Warburg Micro Syndrome 2
Cataract, Cryptorchidism, Flexion contracture, Low anterior hairline, Optic atrophy, Developmenta... OMIM:614225
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Ptosis, Blindness, Epicanthus, Ventricular septal defect, Hypoplastic toenails, Low anterior hair... OMIM:220500
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Epicanthus, Cataract, Sparse eyelashes, Camptodactyly of finger, Sparse eyebrow, Widow's peak, Pe... ORPHA:306542
Chondrodysplasia Punctata 2, X-Linked Dominant
Cataract, Sparse eyelashes, Sparse eyebrow, Congenital ichthyosiform erythroderma, Patchy alopeci... OMIM:302960
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism, Congestive heart failure ORPHA:3077
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Combined Oxidative Phosphorylation Deficiency 33
Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy OMIM:617713
Retinitis Pigmentosa 28
Nyctalopia, Constriction of peripheral visual field OMIM:606068
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Dilated cardiomyopathy, Hepatic necrosis, Prolonged prothrombin time, Hype... ORPHA:71212
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Optic disc pallor, Cataract, Corneal opacity, Macroglossia ORPHA:309288
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Hypogonadism, Sparse hair, Tetralogy of Fallot, Downs... ORPHA:2316
Ophthalmoplegia, Familial Static
Anisocoria, Ptosis OMIM:165000
Bone Marrow Failure Syndrome 3
Epicanthus, Retinal dystrophy, Pancreatic steatosis, Cryptorchidism, Hyperkeratosis, Astigmatism,... OMIM:617052
Pyruvate Dehydrogenase E3 Deficiency
Cardiomyopathy, Abnormal cardiac ventricular function ORPHA:2394
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Bilateral ptosis, Dilated card... OMIM:164310
Usher Syndrome, Type Iv
Nyctalopia, Constriction of peripheral visual field, Ring scotoma OMIM:618144
Hermansky-Pudlak Syndrome 7
Epistaxis, Albinism, Reduced visual acuity, Menorrhagia, Visual impairment OMIM:614076
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Congenital diaphragmatic hernia, Hypoplastic toenails, Eyelid coloboma... ORPHA:268249
Craniofrontonasal Dysplasia
Camptodactyly of finger, Congenital diaphragmatic hernia, Abnormality of hair texture, Widow's pe... ORPHA:1520
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Chromosome Xq21 Deletion Syndrome
Nyctalopia, Constriction of peripheral visual field, Progressive visual loss OMIM:303110
Pili Torti, Early-Onset
Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr... OMIM:261900
Ichthyosis, Congenital, Autosomal Recessive 10
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... OMIM:615024
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Diplopia, Reduced visual acuity, Impotence, Oligomenorrhea, Hypotension, Visual acuity test abnor... ORPHA:91354
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... ORPHA:98962
Gyrate Atrophy Of Choroid And Retina
Myopia, Blindness, Visual impairment, Nyctalopia OMIM:258870
Koolen-De Vries Syndrome
Atrial septal defect, Epicanthus, Cataract, Iris hypopigmentation, Bicuspid aortic valve, Ventric... OMIM:610443
Mitochondrial Complex I Deficiency, Nuclear Type 4
Blindness, Ptosis OMIM:618225
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Centrally nucleated skeletal muscle fibe... OMIM:613327
Kearns-Sayre Syndrome
Cardiomyopathy, Arrhythmia, Ragged-red muscle fibers, Third degree atrioventricular block OMIM:530000
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dysmenorrhea, Congestive heart... ORPHA:280365
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Telangiectasia of the skin, Optic atrophy, Telangiectasia, Hyperkeratosis, Generalized amyotrophy... ORPHA:79279
Deafness, X-Linked 7
Telecanthus, Unilateral microphthalmos, Thick eyebrow, Ptosis OMIM:301018
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Small for gestational age, Fine hair, Upslanted palpebral fissure, Long eyelashes, High anterior ... ORPHA:231137
Cardiac-Urogenital Syndrome
Prolonged bleeding time, Tachycardia, Cor triatrium sinister, Ventricular septal defect, Dextroca... OMIM:618280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Retinal dysplasia, Muscular dystrophy OMIM:614830
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Coloboma, Optic atrophy OMIM:274270
Cone-Rod Dystrophy 20
Constriction of peripheral visual field, Central scotoma, Reduced visual acuity, High myopia, Tri... OMIM:615973
Melas
Wolff-Parkinson-White syndrome, Hypogonadotropic hypogonadism, Cardiac conduction abnormality, Vi... ORPHA:550
Jaberi-Elahi Syndrome
Cataract, Sparse eyelashes, Brittle hair, Sparse eyebrow, Optic atrophy, Fine hair, Sparse hair OMIM:617988
Weaver Syndrome
Deep-set nails, Abnormal fingernail morphology, Thin nail, Hypoplastic toenails, Cryptorchidism, ... ORPHA:3447
Optic Pathway Glioma
Visual loss, Blindness, Reduced visual acuity, Visual field defect ORPHA:2086
Adrenoleukodystrophy
Alopecia, Blindness, Visual loss, Impotence, Hypogonadism OMIM:300100
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cardiomyopathy, Mitral regurgi... ORPHA:746
Mucopolysaccharidosis, Type Iiic
Synophrys, Asymmetric septal hypertrophy, Coarse hair, Hirsutism, Hypertrichosis OMIM:252930
Subaortic Stenosis-Short Stature Syndrome
Epicanthus, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis, Microphthalmia, ... ORPHA:3191
Agel Amyloidosis
Bilateral ptosis, Cardiomyopathy, Keratoconjunctivitis sicca, Blepharochalasis, Nail dystrophy, S... ORPHA:85448
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Aquagenic Palmoplantar Keratoderma
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma ORPHA:498359
Sulfite Oxidase Deficiency, Isolated
Fine hair, Ectopia lentis OMIM:272300
Proteus-Like Syndrome
Retinal detachment, Thymus hyperplasia, Cataract, Abnormal pupil morphology, Abnormality of the p... ORPHA:2969
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:94080
Ritscher-Schinzel Syndrome 3
Highly arched eyebrow, Cryptorchidism, Chorioretinal coloboma, Microphthalmia, Atrioventricular c... OMIM:619135
Zttk Syndrome
Aortic regurgitation, Absent gallbladder, Epicanthus, Curly hair, Ventricular septal defect, Spar... OMIM:617140
Lamellar Ichthyosis
Hyperkeratosis, Ichthyosis, Sparse hair, Abnormality of the nail, Aplasia/Hypoplasia of the eyebr... ORPHA:313
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Epicanthus, Cataract, Sparse eyelashes, Alopecia, Sparse scalp hair, Absent eyela... OMIM:268400
Acro-Renal-Ocular Syndrome
Epicanthus, Cataract, Optic disc hypoplasia, Optic disc coloboma, Microcornea, Coloboma, Choriore... ORPHA:959
Micro Syndrome
Abnormality of retinal pigmentation, Cataract, Cryptorchidism, Optic atrophy, Microcornea, Retina... ORPHA:2510
Duane-Radial Ray Syndrome
Epicanthus, Cataract, Optic disc hypoplasia, Ventricular septal defect, Facial palsy, Small thena... OMIM:607323
De Barsy Syndrome
Epicanthus, Cataract, Corneal opacity, Ventricular septal defect, Decreased muscle mass, Cryptorc... ORPHA:2962
Ichthyosis, Congenital, Autosomal Recessive 9
Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis... OMIM:615023
Carney Complex, Type 1
Red hair, Congestive heart failure, Cardiac myxoma, Hirsutism OMIM:160980
Schimmelpenning-Feuerstein-Mims Syndrome
Coloboma, Alopecia, Corneal opacity, Ichthyosis OMIM:163200
Glycogen Storage Disease Iv
Cardiomyopathy, Arthrogryposis multiplex congenita, Portal hypertension, Skeletal muscle atrophy OMIM:232500
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Curly hair, Telecanthus, Cataract, Cyst of the ductus choledochus, Upslanted palpebral fissure, C... ORPHA:480880
Pachyonychia Congenita 2
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Angular cheilitis, Sparse eyebrow, Follicu... OMIM:167210
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Epicanthus, Corneal opacity, Decreased response to growth hormone stimul... ORPHA:488632
Megalocornea-Intellectual Disability Syndrome
Iridodonesis, Epicanthus, Hypoplasia of the iris, Astigmatism, Megalocornea, Abnormal anterior ch... ORPHA:2479
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Roifman Syndrome
Noncompaction cardiomyopathy, Hypogonadotropic hypogonadism, Hyperconvex nail, Eczema, Recurrent ... ORPHA:353298
Cach Syndrome
Blindness, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Optic neuri... ORPHA:135
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Cataract, Hyperkeratosis with erythema, Knee flexion contracture, Coarse hair, S... OMIM:118650
Leber Congenital Amaurosis 9
Ultra-low vision with retained light perception, Nyctalopia, Reduced visual acuity, Hypermetropia... OMIM:608553
Mucopolysaccharidosis Type 1
Corneal opacity, Abnormal heart valve morphology, Congestive heart failure, Low anterior hairline... ORPHA:579
Fanconi Anemia, Complementation Group S
Epicanthus, Low anterior hairline, Ovarian neoplasm, Upslanted palpebral fissure, Long eyelashes,... OMIM:617883
Fetal Alcohol Syndrome
Epicanthus, Telecanthus, Congenital diaphragmatic hernia, Atrial septal defect, Microphthalmia, G... ORPHA:1915
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased variability in muscle ... OMIM:258450
Macular Dystrophy With Central Cone Involvement
Central scotoma, Red-green dyschromatopsia, Reduced visual acuity, High myopia, Visual impairment OMIM:616170
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Highly arched eyebrow, Bilateral ptosis, Cryptorchidism, Low anterior ... ORPHA:404440
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Arthrogryposis multiplex congenita OMIM:616570
Ichthyosis, Congenital, Autosomal Recessive 3
Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Ichth... OMIM:606545
Mucopolysaccharidosis Type 3
Cataract, Corneal opacity, Thick hair, Cardiomegaly, Retinal degeneration, Synophrys, Flexion con... ORPHA:581
Galactosialidosis
Conjunctival telangiectasia, Cherry red spot of the macula, Opacification of the corneal stroma OMIM:256540
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P... ORPHA:774
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... ORPHA:3384
Bartsocas-Papas Syndrome 1
Cicatricial lagophthalmos, Bilateral cryptorchidism, Flexion contracture, Ankyloblepharon, Pteryg... OMIM:263650
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Sparse hair, Tiger ... OMIM:300953
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Alopecia, Angina pectoris, Telang... ORPHA:93672
Nanophthalmos 4
Microphthalmia, Optic disc drusen OMIM:615972
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect, Minimal change glomerulonephritis OMIM:616730
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Myocarditis ORPHA:2724
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Vulto-Van Silfhout-De Vries Syndrome
Epicanthus, Widow's peak, Fine hair, Upslanted palpebral fissure, Horizontal eyebrow OMIM:615828
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Synophrys, Flexion contracture, Knee flexi... OMIM:619503
Moebius Syndrome
Skeletal muscle atrophy, Epicanthus, Corneal opacity, Facial palsy, Aplasia of the pectoralis maj... ORPHA:570
Tubulointerstitial Nephritis And Uveitis Syndrome
Nongranulomatous uveitis, Anterior uveitis, Cataract, Choroidal neovascularization, Papilledema, ... ORPHA:91500
17Q12 Microduplication Syndrome
Atrial septal defect, Microphthalmia, Synophrys ORPHA:261272
Neuhauser Syndrome
Iridodonesis, Epicanthus, Low anterior hairline, Hypoplasia of the iris, Megalocornea, Downslante... OMIM:249310
Joubert Syndrome 32
Hypertrophic cardiomyopathy OMIM:617757
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Telecanthus, Corneal opacity, Ventricular septal defect, Synophrys, Ventricular septal hypertroph... OMIM:608670
Fish-Eye Disease
Angina pectoris, Corneal opacity ORPHA:79292
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... ORPHA:261529
Leprosy
Absent eyebrow, Alopecia, Skeletal muscle atrophy, Epistaxis, Loss of eyelashes, Testicular mass,... ORPHA:548
Catastrophic Antiphospholipid Syndrome
Abnormal heart valve morphology, Angina pectoris, Myocardial infarction, Pulmonary embolism, Tran... ORPHA:464343
Hartsfield Syndrome
Microphthalmia, Telecanthus, Downslanted palpebral fissures, Ptosis ORPHA:2117
Oculoectodermal Syndrome
Atrial septal defect, Epicanthus, Transient ischemic attack, Supernumerary nipple, Chorioretinal ... OMIM:600268
Gm1-Gangliosidosis, Type Iii
Skeletal muscle atrophy, Opacification of the corneal stroma OMIM:230650
Yao Syndrome
Ventricular hypertrophy, Pericarditis, Inflammatory abnormality of the skin, Skin rash, Arthritis... OMIM:617321
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
Stromme Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Myopathy, Peters anomaly, Retinal va... OMIM:243605
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Upslanted palpebral fissure, Nyctalopia OMIM:616108
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Anonychia, Nail dystrophy, Sparse body hair ORPHA:79402
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... ORPHA:2299
Trisomy 18
Atrial septal defect, Epicanthus, Cataract, Ventricular septal defect, Abnormality of retinal pig... ORPHA:3380
Oculopalatocerebral Syndrome
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Bothnia Retinal Dystrophy
Nyctalopia OMIM:607475
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Retinitis Pigmentosa 51
Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Visual impairment OMIM:613464
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmop... OMIM:148700
Night Blindness, Congenital Stationary, Type 1E
Congenital stationary night blindness, Reduced visual acuity, Visual impairment, High myopia OMIM:614565
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse scalp hair, Epicanthus, Atrial septal defect, Ventricular septal defect, Sparse eyebrow, D... ORPHA:464738
Atelis Syndrome 2
Epicanthus, Remnants of the hyaloid vascular system, Developmental cataract, Supravalvar pulmonar... OMIM:620185
2Q32Q33 Microdeletion Syndrome
Sparse hair, Downslanted palpebral fissures, Decreased testicular size, Fine hair ORPHA:251019
Severe Canavan Disease
Blindness ORPHA:314911
Autosomal Dominant Progressive External Ophthalmoplegia
Atrial fibrillation, Facial palsy, Quadriceps muscle weakness, Dilated cardiomyopathy, Ragged-red... ORPHA:254892
Odontoonychodermal Dysplasia
Ridged nail, Sparse scalp hair, Plantar hyperkeratosis, Dry hair, Short nail, Hypergranulosis, Th... OMIM:257980
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis,... OMIM:617877
Retinal Cone Dystrophy 4
Photophobia, Constriction of peripheral visual field, Reduced visual acuity, Visual impairment OMIM:610478
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Pericarditis, Alopecia, Myositis, Skin rash, Gastritis, Myocarditis,... ORPHA:809
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Flexion contracture, Abnormal hea... ORPHA:505248
Chromosome 18Q Deletion Syndrome
Epicanthus, Absence of the pulmonary valve, Ventricular septal defect, Blepharophimosis, Congesti... OMIM:601808
Ablepharon Macrostomia Syndrome
Absent eyebrow, Ablepharon, Corneal opacity, Camptodactyly of finger, Abnormal hair pattern, Abse... ORPHA:920
Systemic Lupus Erythematosus, Susceptibility To, 6
Arthritis, Pericarditis, Malar rash OMIM:609939
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Epicanthus, Supernumerary nipple, Sparse eyebrow, Synophrys, Upslanted palpebral fissure, Joint c... OMIM:620098
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia ORPHA:90037
Morm Syndrome
Photophobia, Progressive night blindness, Visual impairment ORPHA:75858
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Cardiomyopathy ORPHA:324525
Atypical Pantothenate Kinase-Associated Neurodegeneration
Blindness ORPHA:216873
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect, Eczema, Minimal change glomerulonephritis OMIM:618348
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Anophthalmia, Abnormal size of the palpebral fissures, Corneal dystrophy, Hypoplasia of the muscu... ORPHA:1101
Microphthalmia, Isolated 4
Microphthalmia, Coloboma, Absent testis OMIM:613094
Retinitis Pigmentosa 66
Constriction of peripheral visual field, Central scotoma, Nyctalopia, Reduced visual acuity, Visu... OMIM:615233
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Hypermetropia, Upslanted palpebral fissure, Narrow palpebral fissure, Sparse hair, Hirsutism OMIM:618087
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Camptodactyly of finger, Hyperkeratosis, Coarse hair, Joint contracture of the 5th ... ORPHA:1883
Narp Syndrome
Abnormal visual field test, Blindness, Constriction of peripheral visual field ORPHA:644
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Optic nerve hypoplasia, Decreased response to growth hormone stimulati... OMIM:609053
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Alopecia, Cataract, Abnormal pulmonary valve morphology, Portal hype... ORPHA:974
Retinitis Pigmentosa 9
Nyctalopia, Constriction of peripheral visual field OMIM:180104
Colchicine Poisoning
Alopecia, Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arr... ORPHA:31824
Xk Aprosencephaly Syndrome
Atrial septal defect, Microphthalmia, Ventricular septal defect ORPHA:3469
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Heart... ORPHA:275766
Scrub Typhus
Anterior uveitis, Skin rash, Myocarditis, Photophobia, Hypotension, Infectious encephalitis ORPHA:83317
Nephronophthisis 15
Blindness OMIM:614845
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Orthostatic hypotension, Anisocoria, Hyperkeratosis, High anterior hairline, Ptosis OMIM:615510
Hermansky-Pudlak Syndrome 4
Reduced visual acuity, Menorrhagia, Epistaxis, Albinism OMIM:614073
Duane Retraction Syndrome
Skeletal muscle atrophy, Central heterochromia, Patchy hypopigmentation of hair, Optic disc hypop... ORPHA:233
Roifman Syndrome
Noncompaction cardiomyopathy, Ventricular septal defect, Eczema, Recurrent pneumonia, Prominent e... OMIM:616651
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect, Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyela... OMIM:106260
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Slow-growing hair, Hyperkeratosis, Keratoconjunctivitis sicca, Aplasia/Hy... ORPHA:238468
Retinitis Pigmentosa 50
Nyctalopia, Reduced visual acuity OMIM:613194
Trisomy 9P
Hypoplastic toenails, Abnormal pupil morphology, Fingernail dysplasia, Downslanted palpebral fiss... ORPHA:236
Mietens Syndrome
Microcornea, Cataract, Corneal opacity, Sclerocornea ORPHA:2557
Mucolipidosis Iii Gamma
Aortic regurgitation, Aortic valve stenosis, Opacification of the corneal stroma OMIM:252605
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia OMIM:141000
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Proximal muscle weakness in upper limbs, Dilatation of the ventricular cavity, Cardiomyopathy, Di... ORPHA:363623
Relapsing Polychondritis
Abnormal endocardium morphology, Episcleritis, Pericarditis, Alopecia, Chondritis of pinna, Kerat... ORPHA:728
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Rhinitis, H... OMIM:614941
Alagille Syndrome
Keratoconus, Ventricular septal defect, Corneal dystrophy, Telangiectasia of the skin, Cryptorchi... ORPHA:52
Behçet Disease
Myositis, Myocardial infarction, Pulmonary embolism, Photophobia, Infectious encephalitis, Acne, ... ORPHA:117
Hsd10 Disease, Infantile Type
Visual loss, Hypertrophic cardiomyopathy, Blindness, Cardiomegaly ORPHA:391428
Monosomy 18Q
Myopia, Epicanthus, Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal d... ORPHA:1600
Cystinosis
Retinopathy, Myopathy, Corneal opacity, Portal hypertension ORPHA:213
Exudative Vitreoretinopathy 1
Blindness, Vitreous floaters, Reduced visual acuity, Vitreous hemorrhage, Retinal neovascularization OMIM:133780
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hypertrophic cardiomyopathy, Palpitations, Abnormal heart morphology OMIM:618250
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lens coloboma, Small thenar eminence, Joint contracture of the 4th finger, Joint contracture of t... OMIM:618914
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Microphthalmia... ORPHA:2714
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval... ORPHA:308552
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Nyctalopia ORPHA:79301
Rapp-Hodgkin Syndrome
Ptosis, Absent lacrimal punctum, Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Spars... OMIM:129400
Netherton Syndrome
Sparse scalp hair, Brittle hair, Recurrent skin infections, Brittle scalp hair, Eczema, Allergic ... OMIM:256500
Diffuse Cutaneous Systemic Sclerosis
Dyspareunia, Telangiectasia of the skin, Congestive heart failure, Arthritis, Pulmonary arterial ... ORPHA:220393
Xp22.13P22.2 Duplication Syndrome
Hypermetropia, Sparse hair, Macroorchidism, High anterior hairline, Downslanted palpebral fissures ORPHA:284180
Alpha-N-Acetylgalactosaminidase Deficiency
Blindness, Recurrent pneumonia, Cardiomegaly ORPHA:3137
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Bilateral microphthalmos, Microcornea, Retinal coloboma, Facial hirsutis... ORPHA:2839
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Revesz Syndrome
Leukocoria, Nail pits, Fine hair, Exudative retinopathy, Nail dystrophy, Sparse hair, Megalocorne... OMIM:268130
Infantile Neuronal Ceroid Lipofuscinosis
Visual loss, Blindness, Progressive visual field defects ORPHA:79263
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Dilated cardiomyopathy,... ORPHA:70595
Neuraminidase Deficiency
Cardiomyopathy, Skeletal muscle atrophy, Cardiomegaly OMIM:256550
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Sparse eyelashes, Ventricular septal defect, Sparse eyebrow, Nyctalopia, Peripheral visual field ... OMIM:250410
Relapsing Fever
Prolonged prothrombin time, Tachycardia, Epistaxis, Hypotension ORPHA:91547
Retinitis Pigmentosa 40
Nyctalopia OMIM:613801
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Fiber type... OMIM:607459
Retinitis Pigmentosa 71
Nyctalopia OMIM:616394
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Corneal opacity, Corneal dystrophy, Optic nerve hypoplasia, Sparse eyebrow, Cryptorchidism, Synop... ORPHA:495875
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Myopia, Alopecia, Photophobia, Conjunctivitis, Erythroderma, Sparse hair, Fragile nails OMIM:242150
Gomez-Lopez-Hernandez Syndrome
Alopecia, Downslanted palpebral fissures, Decreased response to growth hormone stimulation test, ... OMIM:601853
Reticular Dystrophy Of Retinal Pigment Epithelium
Nyctalopia OMIM:179840
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Epicanthus, Cataract, Corneal opacity, Rhabdomyosarcoma, Muscular dystrophy... ORPHA:1052
Cerebellofaciodental Syndrome
Cataract, Ventricular septal defect, Sparse eyebrow, Cryptorchidism, Fine hair, Mitral valve prol... OMIM:616202
Frontonasal Dysplasia 3
Microphthalmia, Absent eyebrow, Sparse eyelashes, Upper eyelid coloboma OMIM:613456
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cataract, Retinal dystrophy, Increased variability in muscle fiber diameter, Buphthalmos, Muscula... OMIM:616538
Chromosome Xp11.3 Deletion Syndrome
Moderate myopia, Constriction of peripheral visual field, Blindness, Cryptorchidism, Nyctalopia, ... OMIM:300578
Acquired Ichthyosis
Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis ORPHA:454
Weill-Marchesani Syndrome 2
Iridodonesis, Cataract, Ventricular septal defect, Lens luxation, Ectopia lentis, Thickened skin,... OMIM:608328
Farber Disease
Skeletal muscle atrophy, Corneal opacity, Flexion contracture, Macular degeneration, Abnormal con... ORPHA:333
Vici Syndrome
Hypopigmentation of hair, Epicanthus, Albinism, Congestive heart failure, Dilated cardiomyopathy,... OMIM:242840
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Cataract, Cryptorchidism, Optic atrophy, Microcornea, Microphthalmia, Iris... ORPHA:3301
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Cardiomyopathy OMIM:619046
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced rhabdomyolysis, Sudden cardiac death, Cardiomegaly, Reduced left ventricular eje... OMIM:201475
Cutis Laxa, Autosomal Recessive, Type Iiib
Cataract, Cryptorchidism, Developmental glaucoma, Flexion contracture, Elbow flexion contracture,... OMIM:614438
Sanjad-Sakati Syndrome
Hypoparathyroidism, Corneal opacity, Cryptorchidism, Myopathy, Astigmatism, Congenital hypoparath... ORPHA:2323
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Cardiomyopathy OMIM:600721
Retinitis Pigmentosa 12
High hypermetropia, Nyctalopia, Reduced visual acuity OMIM:600105
Hamamy Syndrome
Telecanthus, Prolonged QRS complex, Sparse eyelashes, Blepharophimosis, Sparse eyebrow, Complete ... OMIM:611174
Linear Nevus Sebaceus Syndrome
Alopecia, Telecanthus, Adenoma sebaceum, Microphthalmia, Iris coloboma ORPHA:2612
Multiple Sulfatase Deficiency
Corneal opacity, Retinal degeneration, Ichthyosis OMIM:272200
Eec Syndrome
Entropion, Slow-growing hair, Decreased response to growth hormone stimulation test, Keratitis, S... ORPHA:1896
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... ORPHA:542323
Developmental And Epileptic Encephalopathy 75
Upslanted palpebral fissure, Cardiomyopathy, Cerebral visual impairment OMIM:618437
3Q29 Microdeletion Syndrome
Cataract, Pulmonary arterial hypertension, Subvalvular aortic stenosis, Microphthalmia, Downslant... ORPHA:65286
Retinitis Pigmentosa 89
Nyctalopia, Constriction of peripheral visual field, Bicuspid aortic valve OMIM:618955
Whipple Disease
Gastrointestinal hemorrhage, Pericarditis, Myositis, Myocardial infarction, Myocarditis, Uveitis,... ORPHA:3452
Desbuquois Syndrome
Sparse hair, Ventricular septal defect, Abnormal eyelash morphology ORPHA:1425
Mosaic Trisomy 1
Ventricular septal defect, Hypoplastic thumbnail, Congenital diaphragmatic hernia, Camptodactyly ... ORPHA:1692
Herpes Simplex Virus Stromal Keratitis
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... ORPHA:137599
Retinal Dystrophy With Or Without Extraocular Anomalies
Premature ovarian insufficiency, Reduced visual acuity, Secondary amenorrhea OMIM:617175
Knobloch Syndrome 1
Attenuation of retinal blood vessels, Retinal detachment, Epicanthus, Telecanthus, Optic disc pal... OMIM:267750
Insensitivity To Pain, Congenital, With Anhidrosis
Sparse scalp hair, Postural hypotension with compensatory tachycardia, Keratitis, Corneal scarrin... OMIM:256800
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Cataract, Contracture of the proximal interphalangeal joint of the 2nd finger, Thenar muscle atro... OMIM:612394
Serotonin Syndrome
Hypertension, Tachycardia, Rhabdomyolysis, Hypotension ORPHA:43116
Borjeson-Forssman-Lehmann Syndrome
Blepharophimosis, Cryptorchidism, Hypogonadism, Sparse hair, Decreased testicular size, Thick eye... ORPHA:127
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy OMIM:610773
Hermansky-Pudlak Syndrome 11
Epistaxis, Albinism, Reduced visual acuity, Photophobia, Menorrhagia, Fair hair OMIM:619172
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Alopecia, Highly arched eyebrow, Synophrys, Dystrophic toenail, Hypogonadism, Nail dystrophy, Dow... ORPHA:3253
Tetrasomy 12P
Telecanthus, Sparse eyebrow, Upslanted palpebral fissure, Sparse hair, Ptosis ORPHA:884
Bardet-Biedl Syndrome 21
Myopia, Blindness, Constriction of peripheral visual field OMIM:617406
Lelis Syndrome
Yellow nails, Absent lower eyelashes, Upslanted palpebral fissure, Nail dystrophy, Sparse hair, A... ORPHA:140936
Albinism, Oculocutaneous, Type Vii
Photophobia, High hypermetropia, Reduced visual acuity, Albinism OMIM:615179
Acrogeria
Telangiectasia of the skin, Fine hair ORPHA:2500
Chromosome 13Q14 Deletion Syndrome
Epicanthus, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Retinoblastoma, Chor... OMIM:613884
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Dilated cardiomyopathy, Ol... ORPHA:3243
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Cardiomyopathy ORPHA:79312
Stevenson-Carey Syndrome
Coloboma, Camptodactyly, Atrial septal defect, Microphthalmia, Joint contracture of the hand, Dow... OMIM:611961
Systemic Lupus Erythematosus
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis OMIM:152700
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Cardiomegaly, Shor... OMIM:232300
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Epicanthus, Cryptorchidism, Fine hair, Sparse hair, Downslanted palpebral fissures OMIM:616817
Antisynthetase Syndrome
Aortic regurgitation, Myositis, Telangiectasia of the skin, Skin rash, Myocarditis, Keratoconjunc... ORPHA:81
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Cardiomegaly, Lip telangiectasia, ... ORPHA:79280
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Hyper... OMIM:618775
Apolipoprotein A-I Deficiency
Xanthelasma, Angina pectoris, Opacification of the corneal stroma ORPHA:425
Classic Multiminicore Myopathy
Congestive heart failure, Mitral valve prolapse, Right ventricular hypertrophy, Right ventricular... ORPHA:324604
Congenital Toxoplasmosis
Microphthalmia, Abnormality of retinal pigmentation, Cardiomegaly ORPHA:858
Retinitis Pigmentosa 6
Nyctalopia, Constriction of peripheral visual field OMIM:312612
Netherton Syndrome
Sparse scalp hair, Sparse eyelashes, Eczema, Skin rash, Sparse eyebrow, Abnormal hair morphology,... ORPHA:634
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Cardiomyopathy, Flexion contracture, Myopathy, Weakness of facial musculature OMIM:201470
Mend Syndrome
Telecanthus, Cataract, Cryptorchidism, Abnormal heart morphology, Upslanted palpebral fissure, Ic... ORPHA:401973
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Telecanthus, Cryptorchidism, Fine hair, Upslanted palpebral fissure, Microphthalmia ORPHA:228390
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormality of hair texture, Cardiomyopathy, Prolonged prothrombin time, Muscular dystrophy, Fail... ORPHA:88618
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Cardiac arrest, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial nephr... ORPHA:139402
Pediatric-Onset Graves Disease
Episcleritis, Atrial fibrillation, Abnormal eyelid morphology, Keratitis, Congestive heart failur... ORPHA:525731
Menkes Disease
Intracranial hemorrhage, Alopecia, Brittle hair, Sparse hair OMIM:309400
Cerebrooculofacioskeletal Syndrome 4
Abnormal retinal morphology, Camptodactyly of finger, Bilateral microphthalmos, Elbow flexion con... OMIM:610758
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Epicanthus, Dry hair, Brittle hair, Upslanted palpebral fissure, Macroglossia, Nail dystrophy, At... ORPHA:93947
Generalized Pustular Psoriasis
Pustule, Congestive heart failure, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythr... ORPHA:247353
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Epicanthus, Ventricular septal defect, Cryptorchidism, Abnormal heart morphology, Atrial septal d... OMIM:618494
Familial Dysautonomia
Orthostatic hypotension, Tachycardia, Corneal opacity, Abnormal pupil morphology, Corneal erosion... ORPHA:1764
1Q21.1 Microdeletion Syndrome
Epicanthus, Cataract, Cryptorchidism, Abnormal cardiac septum morphology, Microphthalmia, Iris co... ORPHA:250989
Androgen Insensitivity Syndrome
Sparse pubic hair, Sparse axillary hair, Absent facial hair, Primary amenorrhea OMIM:300068
Chromosome 19Q13.11 Deletion Syndrome, Distal
Sparse eyelashes, Blepharophimosis, Sparse eyebrow, Cryptorchidism, Abnormal cardiac septum morph... OMIM:613026
Alpers-Huttenlocher Syndrome
Abnormality of vision, Blindness ORPHA:726
Carpenter Syndrome 1
Telecanthus, Epicanthus, Ventricular septal defect, Cryptorchidism, Optic atrophy, Microcornea, J... OMIM:201000
Dubowitz Syndrome
Sparse scalp hair, Epicanthus, Telecanthus, Cryptorchidism, Hypoplasia of the iris, Blepharophimo... OMIM:223370
Tetanus
Hypertension, Tachycardia, Bradycardia ORPHA:3299
Macs Syndrome
Alopecia, Epicanthus, Hypergonadotropic hypogonadism, Palpebral edema, Sparse eyebrow, Cryptorchi... OMIM:613075
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Constrictive pericarditis, Arthritis OMIM:208250
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Slow-growing hair, Abnormal hair morphology, Cryptorchidism, Upslanted palpebral fissure, Uncomba... ORPHA:3082
Spinocerebellar Ataxia Type 7
Blindness, Congestive heart failure, Visual loss, Reduced visual acuity, Photophobia, Hemeralopia ORPHA:94147
Multicentric Osteolysis, Nodulosis, And Arthropathy
Hip contracture, Peripheral opacification of the cornea, Corneal opacity, Interphalangeal joint c... OMIM:259600
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Short Stature, Microcephaly, And Endocrine Dysfunction
Sparse hair, Cryptorchidism, Dilated cardiomyopathy OMIM:616541
Galloway-Mowat Syndrome 1
Epicanthus, Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal stroma,... OMIM:251300
Mucopolysaccharidosis, Type Ii
Abnormal heart valve morphology, Congestive heart failure, Recurrent pneumonia, Hypertrichosis, R... OMIM:309900
Tularemia
Tachycardia ORPHA:3392
Cohen Syndrome
Myopia, Thick eyebrow, Nyctalopia, Reduced visual acuity, Mitral valve prolapse, Downslanted palp... OMIM:216550
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal eyelid morphology, Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnorm... ORPHA:2273
Ogden Syndrome
Ventricular septal defect, Cryptorchidism, Fine hair, Cardiogenic shock, Arrhythmia, Downslanted ... ORPHA:276432
Systemic Capillary Leak Syndrome
Pericarditis, Myocarditis, Hypotension, Arrhythmia, Pancreatitis ORPHA:188
Microphthalmia, Syndromic 2
Anophthalmia, Flexion contracture, Microcornea, Laterally curved eyebrow, Atrial septal defect, C... OMIM:300166
Cockayne Syndrome Type 3
Optic disc pallor, Dry hair, Cataract, Retinal atrophy, Retinal dystrophy, Skeletal muscle atroph... ORPHA:90324
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Alopecia, Cataract, Adrenal hyperplasia, Abnormal fingernail morphology, Opac... ORPHA:3453
Visual Impairment And Progressive Phthisis Bulbi
Phthisis bulbi, Flat cornea, Ptosis OMIM:618283
Congenital Disorder Of Glycosylation, Type Iil
Epicanthus, Ventricular septal defect, Optic atrophy, Hyperkeratosis, Atrial septal defect OMIM:614576
Hypercholesterolemia, Familial, 3
Xanthelasma, Corneal arcus, Tendon xanthomatosis OMIM:603776
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Skeletal muscle atrophy, Failure to thrive, Dilated cardiomyopathy, Flexion contracture, Nail dys... ORPHA:89842
Bacterial Toxic-Shock Syndrome
Shock, Tachycardia, Myositis, Myocarditis, Capillary leak, Hypotension ORPHA:36234
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlargement, Endocardial fibroelas... OMIM:619313
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation, Hyperopic astigmatism, Thickened skin, Opacification of the corneal stroma,... OMIM:252600
Erdheim-Chester Disease
Osteomyelitis, Hypogonadotropic hypogonadism, Abnormal pericardium morphology, Skin rash, Congest... ORPHA:35687
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Myopia, Epicanthus, Reduced visual acuity, Hypermetropia, Fine hair, Nonprogressive visual loss, ... OMIM:614800
Albers-Schönberg Osteopetrosis
Blindness, Osteomyelitis, Mandibular osteomyelitis, Osteoarthritis, Arthritis, Visual impairment ORPHA:53
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypertrophic cardiomyopathy, Cerebral visual impairment OMIM:618241
Immunoneurologic Disorder, X-Linked
Nyctalopia OMIM:300076
Hallermann-Streiff Syndrome
Sparse scalp hair, Cataract, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Optic disc colobom... OMIM:234100
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Cor pulmonale, Opacification of the corneal stroma OMIM:215250
Ichthyosis, Congenital, Autosomal Recessive 14
Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:617571
Multiple Acyl-Coa Dehydrogenase Deficiency
Telecanthus, Acute pancreatitis, Congestive heart failure, Abnormal heart morphology, Cardiomyopa... ORPHA:26791
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:168000
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Myocarditis, Lymphadenitis, P... ORPHA:31205
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyebrow, Epicanthus, Alopecia, Sparse eyelashes, Palpebral edema, Sparse scalp hair, Epide... OMIM:137940
Monosomy 18P
Alopecia, Epicanthus, Low posterior hairline, Hypertension, Microphthalmia, Ptosis ORPHA:1598
Cranioectodermal Dysplasia 4
Epicanthus, Nyctalopia, Recurrent pneumonia, Hypermetropia, Visual impairment, Onychogryposis OMIM:614378
Acrofacial Dysostosis, Palagonia Type
Sparse eyelashes, Abnormal eyelid morphology, Low anterior hairline, Thin eyebrow, Sparse hair, P... ORPHA:1787
Hypercholesterolemia, Familial, 1
Xanthelasma, Corneal arcus, Tendon xanthomatosis OMIM:143890
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Bilateral cryptorchidism, Muscular ventricular septal defect, Dilated card... ORPHA:66634
Combined Oxidative Phosphorylation Deficiency 9
Hypertrophic cardiomyopathy, Patent foramen ovale OMIM:614582
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Retinal dysplasia OMIM:615771
Retinitis Pigmentosa 88
Nyctalopia, Reduced visual acuity OMIM:618826
3P25.3 Microdeletion Syndrome
Atrial septal defect, Epicanthus, Skeletal muscle atrophy, Ventricular septal defect, Knee flexio... ORPHA:435638
Nance-Horan Syndrome
Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract OMIM:302350
Ichthyosis, Annular Epidermolytic, 1
Abnormal hair morphology, Hyperparakeratosis, Palmoplantar hyperkeratosis, Ichthyosis, Congenital... OMIM:607602
Hsd10 Mitochondrial Disease
Visual loss, Hypertrophic cardiomyopathy OMIM:300438
Retinitis Pigmentosa 37
Constriction of peripheral visual field, Red-green dyschromatopsia, Nyctalopia, Reduced visual ac... OMIM:611131
Spondylodysplastic Ehlers-Danlos Syndrome
Sparse scalp hair, Agenesis of pineal gland, Multiple joint contractures, Corneal opacity, Optic ... ORPHA:536471
Vitamin B12-Unresponsive Methylmalonic Acidemia
Cardiomyopathy ORPHA:27
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... OMIM:613270
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Alopecia, Premature ovarian insufficiency, Female hypogonadism, Constriction of peripheral visual... OMIM:240300
Cerebellar-Facial-Dental Syndrome
Cataract, Ventricular septal defect, Foot joint contracture, Sparse eyebrow, Cryptorchidism, Fine... ORPHA:444072
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Brittle hair, Myocardial infarction, Ectopia lentis, Mitral valve prolapse, Lens subluxation OMIM:236200
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hypertrophic cardiomyopathy, Ptosis OMIM:613561
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Unilateral ptosis, Aortic regurgitation, Bicuspid aortic valve, Optic nerve hypoplasia, Truncus a... ORPHA:508498
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Steinfeld Syndrome
Absent gallbladder, Abnormal heart morphology, Retinal coloboma, Microphthalmia, Iris coloboma OMIM:184705
Monosomy 9Q22.3
Epicanthus, Cataract, Ovarian fibroma, Rhabdomyosarcoma, Cardiac fibroma, Retinopathy, Microphtha... ORPHA:77301
Chromosome 5P13 Duplication Syndrome
Epicanthus, Blepharophimosis, Low posterior hairline, Upslanted palpebral fissure, Long palpebral... OMIM:613174
Viss Syndrome
Contracture of the proximal interphalangeal joint of the 2nd toe, Sparse scalp hair, Epidural hem... OMIM:619472
Dermatoosteolysis, Kirghizian Type
Keratitis, Nyctalopia, Osteoarthritis, Dystrophic fingernails, Abnormality of the nail, Dystrophi... ORPHA:1657
High Altitude Pulmonary Edema
Tachycardia ORPHA:330012
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Diplopia, High myopia, Cardiomyopathy, Impotence, Visual impairment, Orthostatic hy... OMIM:105210
Cousin Syndrome
Low anterior hairline, Microcornea, Narrow palpebral fissure, Camptodactyly, Facial hirsutism, Bl... OMIM:260660
Atrophoderma Vermiculata
Heart block, Hyperkeratotic papule, Follicular hyperkeratosis ORPHA:79100
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia ORPHA:264675
Jalili Syndrome
Scotoma, Nyctalopia, Monochromacy, Photophobia, High hypermetropia, Visual impairment OMIM:217080
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Epicanthus, Bicuspid aortic valve, Secundum atrial septal defect, Chalazion, Pulmonary arterial h... OMIM:613355
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Abnormal cardiac ventricle morphology, Jaw claudicatio... ORPHA:85443
Fryns Syndrome
Corneal opacity, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal cardiac septum morphol... ORPHA:2059
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Microphthalmia, Syndromic 3
Optic nerve aplasia, Cataract, Anophthalmia, Anterior pituitary hypoplasia, Sclerocornea, Optic n... OMIM:206900
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri... ORPHA:91139
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Transient ischemic attack, Cholangitis, Supraventricular ar... ORPHA:3260
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Mucopolysaccharidosis, Type Iiid
Thick eyebrow, Synophrys, Nyctalopia, Asymmetric septal hypertrophy, Mitral regurgitation, Coarse... OMIM:252940
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Scarring alopecia of scalp, Hypoplastic sweat glands, Nail dystrophy, O... OMIM:617337
Intellectual Disability, Buenos-Aires Type
Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair, Photophobia, Abnormal cardiac... ORPHA:3079
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Decreased fertility, Hypogonadism, Decreased testicular size, Sparse body hair ORPHA:2234
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cardiomyopathy, Generalized amyotrophy, Skeletal muscle atrophy, Limb hypertonia OMIM:617710
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Constriction of peripheral visual field, Upslanted palpebral fissure, Progressive visual loss, Pr... ORPHA:436245
Dystrophic Epidermolysis Bullosa Pruriginosa
Hyperkeratosis, Abnormal toenail morphology, Nail dystrophy ORPHA:89843
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia OMIM:613239
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Stargardt Disease
Central scotoma, Nyctalopia, Reduced visual acuity, Color vision defect ORPHA:827
Fabry Disease
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Vent... OMIM:301500
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Sting-Associated Vasculopathy, Infantile-Onset
Nailfold capillary tortuosity, Myositis, Skin rash, Raynaud phenomenon, Pustule, Telangiectasia, ... OMIM:615934
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Increased variability in muscle fiber diameter, Buphthalmos, Skeletal muscle hypertroph... OMIM:613150
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy, Skeletal muscle atrophy OMIM:620089
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Telecanthus, Ventricular septal defect, Highly arched eyebrow, Synophrys, H... OMIM:609460
Reactive Arthritis
Aortic regurgitation, Pericarditis, Osteomyelitis, Pustule, Enthesitis, Photophobia, Arthritis, I... ORPHA:29207
Intellectual Developmental Disorder, Autosomal Dominant 65
Synophrys, Low posterior hairline, Upslanted palpebral fissure, Narrow palpebral fissure, Thin ey... OMIM:619320
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Behr Syndrome
Blindness, Progressive visual loss, Visual impairment OMIM:210000
Autosomal Dominant Hypocalcemia
Alopecia, Abnormal fingernail morphology, Eczema, Congestive heart failure, Hypotension, Arrhythm... ORPHA:428
Hepatorenocardiac Degenerative Fibrosis
Hypertrophic cardiomyopathy, Portal hypertension OMIM:619902
Holoprosencephaly
Anophthalmia, Congenital diaphragmatic hernia, Synophrys, Panhypopituitarism, Chorioretinal colob... ORPHA:2162
X-Linked Immunoneurologic Disorder
Nyctalopia ORPHA:2571
Dominant Beta-Thalassemia
High-output congestive heart failure, Dilated cardiomyopathy, Chronic hepatitis, Upslanted palpeb... ORPHA:231226
Congenital Enterovirus Infection
Skin rash, Pericardial effusion, Myocarditis, Hepatitis, Cardiomyopathy, Hypotension, Infectious ... ORPHA:292
Lcat Deficiency
Corneal opacity ORPHA:650
Renpenning Syndrome 1
Atrial septal defect, Epicanthus, Cataract, Telecanthus, Brittle hair, Ventricular septal defect,... OMIM:309500
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure, Abnormal fingernail morphology ORPHA:75564
Congenital Disorder Of Glycosylation, Type Iie
Secundum atrial septal defect, Congestive heart failure, Low anterior hairline, Upslanted palpebr... OMIM:608779
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Telecanthus, Camptodactyly of finger, Supernumerary nipple, Microphthalmia, Iris coloboma ORPHA:1236
Myhre Syndrome
Atrial septal defect, Cataract, Ventricular septal defect, Pericardial effusion, Thickened skin, ... OMIM:139210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... OMIM:614643
Alg3-Cdg
Macroglossia, Cardiomyopathy, Arthrogryposis multiplex congenita ORPHA:79321
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Hypogonadism, Decreased testicular size, Sparse body hair OMIM:300869
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Facial palsy, Limb muscle weakness, Left bundle branch block, Arrhythmia, Ventricular bigeminy OMIM:610131
Retinitis Pigmentosa 84
Nyctalopia, Visual acuity no light perception OMIM:618220
Pituitary Gigantism
Left ventricular hypertrophy, Hypertrophic cardiomyopathy ORPHA:99725
Bazex Syndrome
Parakeratosis, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Acanthosis... ORPHA:166113
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B... ORPHA:99094
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect, Cryptorchidism, Heart murmur, Blepharophimosis, Microphthalmia, Ptosis ORPHA:2728
Vohwinkel Syndrome, Variant Form
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... OMIM:604117
Legionnaires Disease
Pericarditis, Myocarditis, Hepatitis, Endocarditis, Hypotension, Arrhythmia, Infectious encephali... ORPHA:549
2P15P16.1 Microdeletion Syndrome
Aortic regurgitation, Epicanthus, Telecanthus, Supernumerary nipple, Sparse eyebrow, Fine hair, M... ORPHA:261349
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia ORPHA:90033
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Blindness, Retinal telangiectasia, Fine hair, Premature graying of hair, Intestinal bleeding, Nai... OMIM:612199
Monosomy 13Q14
Epicanthus, Cataract, Retinoblastoma, Microphthalmia, Iris coloboma, Ptosis ORPHA:1587
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... ORPHA:1457
Curry-Jones Syndrome
Blepharophimosis, Microphthalmia, High anterior hairline, Iris coloboma, Hirsutism OMIM:601707
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Myopia, Epicanthus, Telecanthus, Upslanted palpebral fissure, Facial hirsutism, Atrial septal def... OMIM:619383
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cardiomegaly, Hypoplastic toenails, Dilated cardiomyopathy, Increased muscle lipid content, Elbow... OMIM:608836
Adult-Onset Still Disease
Pericarditis, Skin rash, Myocarditis, Hepatitis, Arthritis ORPHA:829
Shukla-Vernon Syndrome
Sparse hair, Downslanted palpebral fissures OMIM:301029
Bethlem Myopathy
Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Interphalangeal joint ... ORPHA:610
De Sanctis-Cacchione Syndrome
Parakeratosis, Entropion, Keratitis, Bilateral cryptorchidism, Optic atrophy, Telangiectasia, Con... OMIM:278800
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Chemosis, Nephritis, Infectious enceph... ORPHA:73263
Cronkhite-Canada Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Dystrophic toenail, Patchy alopec... ORPHA:2930
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia ORPHA:90036
Listeriosis
Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Congestive heart failure, Visual lo... ORPHA:533
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Sclerosing cholangit... OMIM:607626
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Male infertility, Primary testicular failure, Congestive heart failu... ORPHA:85450
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, ... ORPHA:79151
Hyperglycinemia, Lactic Acidosis, And Seizures
Hypertrophic cardiomyopathy, Joint contracture OMIM:614462
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Leiomyosarcoma, Hypertension, Arrhythmia ORPHA:139411
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Supernumerary nipple, Congenital diaphragmatic hernia, Sparse eyebrow,... OMIM:612530
Systemic Sclerosis
Pericarditis, Alopecia, Osteomyelitis, Nail bed telangiectasia, Glomerulonephritis, Right ventric... ORPHA:90291
Braddock-Carey Syndrome 2
Microphthalmia, Downslanted palpebral fissures OMIM:619981
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Telecanthus, Optic nerve hypoplasia, Abnormal hair morphology, Bilateral microphthalmos, Eyelid c... OMIM:607597
Pyruvate Dehydrogenase E1-Alpha Deficiency
Blindness, Ventricular septal defect, Recurrent aspiration pneumonia ORPHA:79243
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Secondary amenorrhea, Abn... OMIM:228300
Porphyria Variegata
Hypertension, Tachycardia, Proximal muscle weakness in upper limbs ORPHA:79473
Hermansky-Pudlak Syndrome 5
Metrorrhagia, Epistaxis, Albinism, Reduced visual acuity, Menorrhagia OMIM:614074
Fetal Hydantoin Syndrome
Hypoplastic fingernail, Epicanthus, Cryptorchidism, Low posterior hairline, Coarse hair, Ptosis ORPHA:1912
Marden-Walker Syndrome
Epicanthus, Decreased muscle mass, Dextrocardia, Cryptorchidism, Congenital contracture, Camptoda... OMIM:248700
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Myopia, Hypogonadotropic hypogonadism, Downslanted palpebral fissures, Sparse body hair, Ptosis ORPHA:3068
Mucopolysaccharidosis, Type Vi
Tricuspid regurgitation, Corneal opacity, Thickened skin, Flexion contracture, Cardiomyopathy, Ma... OMIM:253200
Wolf-Hirschhorn Syndrome
Epicanthus, Abnormal heart valve morphology, Retinopathy, Sclerocornea, Highly arched eyebrow, Co... ORPHA:280
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis OMIM:226100
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Congestive heart failure, Irregular menstruation, High myopia, Recurrent otitis media, Pulmonary ... OMIM:616482
Kindler Epidermolysis Bullosa
Corneal opacity, Camptodactyly of finger, Flexion contracture, Hyperkeratosis, Palmoplantar kerat... ORPHA:2908
Moebius Syndrome
Epicanthus, Congenital fibrosis of extraocular muscles, Facial diplegia, Abnormality of the nail,... OMIM:157900
Trichothiodystrophy 2, Photosensitive
Coarse hair, Tiger tail banding, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis OMIM:616390
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Curly hair, Myopia, Epicanthus, Transient ischemic attack, Cerebral visual impairment, Sparse eye... ORPHA:500150
Trichodermodysplasia-Dental Alterations Syndrome
Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, High hypermetropia, Aplas... ORPHA:3353
Momo Syndrome
Epicanthus, Blindness, Hyperconvex nail, Eyelid coloboma, Downslanted palpebral fissures OMIM:157980
Penoscrotal Transposition
Cardiomyopathy ORPHA:2842
Spinal Arteriovenous Metameric Syndrome
Congestive heart failure ORPHA:53721
Chromosome 16Q12 Duplication Syndrome
Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Paracentral scotoma, Tritanomaly OMIM:619649
Combined Oxidative Phosphorylation Deficiency 42
Cardiomyopathy OMIM:618839
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Mitral regurgitation, Tricuspid regurgitation, Supraventricular tachycardia... ORPHA:404443
Microsporidiosis
Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Visual loss, Myocarditis, ... ORPHA:2552
Hall-Riggs Syndrome
Epicanthus, Slow-growing hair, Thick hair, Coarse hair, Failure to thrive ORPHA:2107
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Cantú Syndrome
Epicanthus, Abnormal heart valve morphology, Curly eyelashes, Cardiomegaly, Low anterior hairline... ORPHA:1517
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Epicanthus, Cataract, Palpebral edema, Ventricular septal defect, Tricuspid... OMIM:614866
Retinitis Pigmentosa 60
Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Peripheral visual fie... OMIM:613983
Frontonasal Dysplasia 2
Telecanthus, Sparse eyelashes, Alopecia totalis, Blepharophimosis, Bilateral cryptorchidism, Spar... OMIM:613451
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... ORPHA:649
Spinocerebellar Ataxia, Autosomal Recessive 3
Blindness OMIM:271250
Joubert Syndrome 37
Cryptorchidism, Sparse hair, Microphthalmia, Decreased testicular size, Ptosis OMIM:619185
Tetrasomy 5P
Epicanthus, Congestive heart failure, Heart murmur, Upslanted palpebral fissure, Pulmonary arteri... ORPHA:3309
Microphthalmia-Brain Atrophy Syndrome
Blindness ORPHA:77299
Chand Syndrome
Curly hair, Ankyloblepharon, Nail dysplasia ORPHA:1401
Oculotrichoanal Syndrome
Anophthalmia, Abnormal hair pattern, Upper eyelid coloboma, Nasolacrimal duct obstruction, Microp... ORPHA:2717
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Upslanted palpebral fissure, Hyperkeratosis, Ichthyosis, Sparse hair, Abnormal toenail ... ORPHA:1005
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Bicuspid aortic valve, Hyperconvex nail, Eczema, Hypoplastic left heart, Sparse hair, Atrial sept... OMIM:619721
Peeling Skin Syndrome 4
Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis, Orthokeratosis OMIM:607936
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ... ORPHA:500
Congenital Fibrosis Of Extraocular Muscles
Torticollis, Cataract, Optic nerve hypoplasia, Levator palpebrae superioris atrophy, Anisocoria, ... ORPHA:45358
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Epicanthus, Ventricular septal defect, Cryptorchidism, Widow's peak, Patent foramen ovale, Optic ... OMIM:616975
Facial Clefting, Oblique, 1
Microphthalmia, Coloboma OMIM:600251
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Follicul... OMIM:617066
Steinert Myotonic Dystrophy
Alopecia, Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Card... ORPHA:273
Cone-Rod Dystrophy 6
Nyctalopia, Reduced visual acuity, Peripheral visual field loss, Photophobia, Hemeralopia, Progre... OMIM:601777
Scheie Syndrome
Aortic regurgitation, Corneal opacity ORPHA:93474
Retinitis Pigmentosa 83
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity, Vitreous floaters OMIM:618173
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Increased inflammatory response, Pericarditis, Knee osteoarthritis, Mitral valve prolapse, Mitral... ORPHA:2848
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Epicanthus, Brittle hair, Palpebral edema, Cardiomegaly, Sparse eyebrow, Co... OMIM:252500
Congenital Short Bowel Syndrome
Sparse hair ORPHA:2301
Isolated Ectopia Lentis
Hypertension, Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Al-Gazali Syndrome
Wrist flexion contracture, Corneal opacity, Sclerocornea OMIM:609465
Rhizomelic Chondrodysplasia Punctata
Epicanthus, Alopecia, Sparse body hair ORPHA:177
Osteoporosis-Pseudoglioma Syndrome
Iris atrophy, Cataract, Ventricular septal defect, Phthisis bulbi, Retinal calcification, Exudati... OMIM:259770
Neonatal Marfan Syndrome
Iridodonesis, Tricuspid regurgitation, Ectopia lentis, Abnormal cardiac ventricle morphology, Fle... ORPHA:284979
Peeling Skin Syndrome 1
Brittle hair, Onycholysis, Nail dystrophy, Erythroderma OMIM:270300
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation, Corneal opacity, Developmental cataract OMIM:616603
Scimitar Syndrome
Left-to-right shunt, Ventricular septal defect, Dextrocardia, Mitral atresia, Heart block, Conges... ORPHA:185
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Nyctalopia ORPHA:436274
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal heart valve morpholog... ORPHA:580
Erythrokeratodermia Variabilis Et Progressiva 3
Hypergranulosis, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis OMIM:617525
Drug-Induced Lupus Erythematosus
Pericarditis, Pericardial effusion, Prolonged QTc interval, Malar rash, Serositis ORPHA:231111
Mercury Poisoning
Hypertension, Tachycardia, Hypotension ORPHA:330021
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Mucopolysaccharidosis Type 4
Abnormal heart valve morphology, Corneal opacity ORPHA:582
3-Hydroxy-3-Methylglutaric Aciduria
Cardiac arrest, Dilated cardiomyopathy, Weight loss, Prolonged prothrombin time, Hypotension ORPHA:20
Systemic-Onset Juvenile Idiopathic Arthritis
Juvenile rheumatoid arthritis, Anterior uveitis, Pericarditis, Skin rash ORPHA:85414
Cone-Rod Dystrophy 8
Photophobia, Blindness, Peripheral visual field loss, Nyctalopia OMIM:605549
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Congestive heart failure ORPHA:137608
Acute Radiation Syndrome
Hyperkeratosis, Cataract, Hypotension, Telangiectasia ORPHA:454831
Retinitis Pigmentosa 72
Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, High myopia, Photophobia OMIM:616469
Fraser Syndrome 1
Absent eyebrow, Anophthalmia, Corneal opacity, Absent eyelashes, Cryptorchidism, Bilateral microp... OMIM:219000
Musk, Inability To Smell
Blindness OMIM:254150
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Epicanthus, Small for gestational age, Synophrys, Low anterior hairline, Fine hair, Decreased bod... ORPHA:391408
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa... ORPHA:31826
Brachycephaly, Trichomegaly, And Developmental Delay
Epicanthus, Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow OMIM:617412
Oligodontia-Colorectal Cancer Syndrome
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair OMIM:608615
Giant Axonal Neuropathy
Facial palsy, Woolly hair, Limb muscle weakness, Abnormality of the Achilles tendon, Pili canaliculi ORPHA:643
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Absent lacrimal punctum, Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Ventricular se... ORPHA:1071
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse scalp hair, Sparse eyelashes, Lacrimal duct stenosis, Absence of Stensen duct, Decreased r... OMIM:604292
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Eczema, Portal hypertension, Raynaud phenomenon, Erythema nodosum, Vasculitis, Dilated... OMIM:615688
Avian Influenza
Pneumonia, Congestive heart failure, Hepatitis, Conjunctivitis, Infectious encephalitis, Myelitis ORPHA:454836
Teebi-Shaltout Syndrome
Telecanthus, Slow-growing hair, Ventricular septal defect, Highly arched eyebrow, Low anterior ha... OMIM:272950
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Sparse hair, Hypergonadotropic hypogonadism, Secondary amenorrhea OMIM:268020
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Sparse scalp hair, Fine hair ORPHA:2324
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Blindness OMIM:250940
Dietary Iron Overload Disease
Viral hepatitis, Congestive heart failure, Peritonitis, Hepatitis, Abnormal heart morphology ORPHA:139507
Mucolipidosis Type Ii
Aortic regurgitation, Hip contracture, Dry hair, Abnormal atrioventricular valve physiology, Abno... ORPHA:576
Leigh Syndrome
Ptosis, Alopecia, Ventricular septal defect, Eczema, Frontal hirsutism, Congestive heart failure,... ORPHA:506
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy OMIM:619053
Myopia 23, Autosomal Recessive
Reduced visual acuity, Visual impairment, High myopia OMIM:615431
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Blindness, Subarachnoid hemorrhage, Intracranial hemorrhage, Melena ORPHA:853
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... ORPHA:432
Corneal Dystrophy, Thiel-Behnke Type
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy OMIM:602082
Canavan Disease
Blindness, Visual impairment ORPHA:141
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis, Corneal opacity, Mitral regurgitation, Opacification of the corneal stroma OMIM:253010
Congenital Total Pulmonary Venous Return Anomaly
Tachycardia, Tricuspid regurgitation, Atrial situs ambiguous, Ventricular septal defect, Dextroca... ORPHA:99125
Non-24-Hour Sleep-Wake Syndrome
Blindness ORPHA:73267
Hermansky-Pudlak Syndrome 8
Myopia, Epistaxis, Albinism, Silver-gray hair, Moderate hypermetropia, Reduced visual acuity, Hyp... OMIM:614077
Cutis Laxa, Autosomal Recessive, Type Iia
Myopia, Brittle hair, Abnormality of hair texture, Coarse hair, Downslanted palpebral fissures OMIM:219200
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Tachycardia, Epistaxis, Diffuse alveolar hemorrhage, Hematemesis, Myocarditi... ORPHA:99827
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Cryptorchidism, Limb mus... ORPHA:486815
Oligoarticular Juvenile Idiopathic Arthritis
Uveitis, Cataract, Anterior chamber synechiae, Band keratopathy ORPHA:85410
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal heart valve morpholog... ORPHA:217085
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Brittle hair, Astigmatism, Atrial septal defect, Arrhythmia, Patent foramen ovale OMIM:619184
Joubert Syndrome 22
Microphthalmia, Coloboma, Retinal dysplasia OMIM:615665
Cutis Laxa, Autosomal Recessive, Type Iid
Entropion, Hypoplastic right heart, Blepharophimosis, Bilateral cryptorchidism, Congestive heart ... OMIM:617403
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Congenital blindness ORPHA:436182
Odontotrichoungual-Digital-Palmar Syndrome
Nail dystrophy, Nail dysplasia, Abnormality of hair texture OMIM:601957
Graft Versus Host Disease
Skeletal muscle atrophy, Tachycardia, Dupuytren contracture, Myositis ORPHA:39812
Propionic Acidemia
Cardiomyopathy, Cerebellar hemorrhage, Limb hypertonia OMIM:606054
Skin Creases, Congenital Symmetric Circumferential, 2
Epicanthus, Cryptorchidism, Synophrys, Low anterior hairline, Microcornea, Upslanted palpebral fi... OMIM:616734
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Thyroid hypoplasia, Epicanthus, Absent nipple, Aplasia of the thymus, Atrial septal defect, Facia... OMIM:620186
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ... ORPHA:758
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Keratoconus, Retinal detachment, Epicanthus, Gastrointestinal hemorrhage, Congestive heart failur... OMIM:225400
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... ORPHA:363958
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia, Cryptophthalmos, Ankyloblepharon OMIM:123570
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171300
Anauxetic Dysplasia 2
Sparse hair, Nail dysplasia, Small nail OMIM:617396
Beta-Thalassemia Major
Failure to thrive in infancy, Hypoplasia of the musculature, High-output congestive heart failure... ORPHA:231214
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse scalp hair, Telecanthus, Sparse eyelashes, Absence of Stensen duct, Decreased response to ... OMIM:129900
Prune1-Related Neurological Syndrome
Hypertrophic cardiomyopathy, Cerebral visual impairment ORPHA:544469
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Scarf Syndrome
Epicanthus, Cryptorchidism, Low posterior hairline, Hypoplastic nipples, Sparse hair, Downslanted... ORPHA:3134
Larsen Syndrome
Corneal opacity, Short nail, Ventricular septal defect, Cryptorchidism, Shallow orbits, Atrial se... OMIM:150250
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Intracranial hemorrhage, Shallow orbits, Dystrophic fingernails, Absent ey... ORPHA:740
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal heart valve morpholog... ORPHA:217093
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Retinal detachment, Optic disc pallor, Corneal opacity, Ventricular septal ... ORPHA:464311
Sandhoff Disease
Orthostatic hypotension, Blindness, Impotence, Cardiomegaly OMIM:268800
Diamond-Blackfan Anemia 21
Aortic regurgitation, Unilateral ptosis, Secundum atrial septal defect, Synophrys, Widow's peak, ... OMIM:620072
Pituitary Apoplexy
Bitemporal hemianopia, Ptosis, Hypergonadotropic hypogonadism, Abnormal static automated perimetr... ORPHA:95613
Spinocerebellar Ataxia-Dysmorphism Syndrome
Epicanthus, Coarse hair, Optic atrophy, Ptosis ORPHA:1185
Posterior Column Ataxia With Retinitis Pigmentosa
Blindness, Ring scotoma, Nyctalopia OMIM:609033
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Epicanthus, Ventricular septal defect, Blepharophimosis, Sparse hair, Subva... OMIM:614114
Gm1 Gangliosidosis Type 1
Cardiomyopathy, Blindness, Hirsutism, Aspiration pneumonia ORPHA:79255
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Abnormal eyebrow morphology, Alopecia, Streak ovary, Hypergonadotropic hypogonadism, Sparse facia... ORPHA:2232
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Epicanthus, Cataract, Ventricular septal defect, Brushfield spots, Cryptorchid... OMIM:214100
Atypical Werner Syndrome
Skeletal muscle atrophy, Abnormal hair whorl, Premature graying of hair, Retinal degeneration, Al... ORPHA:79474
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Cataract, Optic atrophy, Pigmentary retinopathy OMIM:610651
Osteogenesis Imperfecta, Type Ii
Congestive heart failure, Pulmonary insufficiency OMIM:166210
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Cardiomyopathy, Macrogl... ORPHA:258
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Optic disc pallor, Cataract, Corneal opacity, Facial hypotonia, Highly arch... ORPHA:309282
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Chronic mucocutaneous candidiasis, Inflammation of the large intestine, Recurrent otitis ... ORPHA:98813
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia, Optic atrophy ORPHA:1528
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Congestive heart failure, Heart murmur, Bacterial endocarditis ORPHA:1054
Acquired Generalized Lipodystrophy
Calf muscle pseudohypertrophy, Abnormal cardiovascular system physiology, Cardiomyopathy, Myopath... ORPHA:79086
Basal Cell Nevus Syndrome 1
Cataract, Ovarian fibroma, Orbital cyst, Cardiac fibroma, Cardiac rhabdomyoma, Ovarian carcinoma,... OMIM:109400
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility OMIM:619518
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H... ORPHA:464321
Joubert Syndrome With Oculorenal Defect
Ptosis, Blindness, Highly arched eyebrow, Visual impairment ORPHA:2318
Mowat-Wilson Syndrome
Cataract, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Generalized muscle hyp... OMIM:235730
Microphthalmia With Limb Anomalies
Anophthalmia, Unilateral cryptorchidism, Abnormal eyelash morphology, Camptodactyly of 2nd-5th fi... OMIM:206920
Hypercholesterolemia, Familial, 2
Xanthelasma, Corneal arcus OMIM:144010
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Rhabdomyolysis, Hypertension, Bradycardia, Hypotension, Arrhythm... ORPHA:94093
Trichorhinophalangeal Syndrome, Type I
Slow-growing hair, Thin nail, Concave nail, Osteoarthritis, Leukonychia, Fine hair, Thin eyebrow,... OMIM:190350
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals OMIM:210370
Dihydrolipoamide Dehydrogenase Deficiency
Hypertrophic cardiomyopathy OMIM:246900
Autoimmune Hypoparathyroidism
Abnormal left ventricular function, Prolonged QT interval, Ventricular arrhythmia ORPHA:36913
Papillon-Lefèvre Syndrome
Recurrent cutaneous abscess formation, Abnormal fingernail morphology, Severe periodontitis, Recu... ORPHA:678
Isolated Congenital Alacrima
Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, ... ORPHA:91416
Milroy Disease
Hydrocele testis, Hyperkeratosis, Epicanthus, Toenail dysplasia ORPHA:79452
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cardiomyopathy, Cerebellar hemorrhage OMIM:251000
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Abnormal pericardium morphology, Acute colitis, Congestive heart failure ORPHA:67
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Fasciitis, Myositis, Skin rash, Orchitis, Peritonitis, Vasculitis, Uveitis, Arthrit... ORPHA:32960
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia OMIM:229700
Dermatomyositis
Abnormal hair quantity, Pericarditis, Telangiectasia of the skin, Myocardial infarction, Abnormal... ORPHA:221
Q Fever
Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Maculopapular exanthema, Pneumonia,... ORPHA:781
Combined Oxidative Phosphorylation Deficiency 3
Dilated cardiomyopathy, Patent foramen ovale, Concentric hypertrophic cardiomyopathy, Visual impa... OMIM:610505
Cole Disease
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... OMIM:615522
Scedosporiosis
Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Osteomyelitis, Endocarditis, Septic art... ORPHA:449280
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Nasolacrimal... ORPHA:978
Aortic Aneurysm, Familial Thoracic 6
Iris flocculi OMIM:611788
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep... OMIM:614947
Neutral Lipid Storage Myopathy
Hand muscle weakness, Fatty replacement of skeletal muscle, Congestive heart failure, Generalized... ORPHA:98908
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypergranulosis, Acantholysis, Multiple muscular ventricular septal defects, Palmoplantar keratod... OMIM:615508
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:276621
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Dystrophic toenail OMIM:619209
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia ORPHA:263455
Neurofibromatosis Type 1
Abnormal hair quantity, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Abnormal ... ORPHA:636
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Distal lower limb amyotrophy, Alopecia, Corneal opacity, Palmoplantar keratoderma, Nail dystrophy... ORPHA:79396
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract OMIM:221800
Retinitis Pigmentosa 49
Nyctalopia, Reduced visual acuity, Peripheral visual field loss OMIM:613756
Hyperkalemic Periodic Paralysis
Congestive heart failure, Arrhythmia ORPHA:682
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hyperkeratosis, Onycholysis ORPHA:1028
African Trypanosomiasis
Abnormal EKG, Pericarditis, Alopecia, Abnormality of the menstrual cycle, Keratitis, Myocarditis,... ORPHA:3385
Complete Androgen Insensitivity Syndrome
Male infertility, Acne, Testicular neoplasm, Sparse axillary hair, Bilateral cryptorchidism, Spar... ORPHA:99429
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Retinal atrophy, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the retina, Retina... OMIM:253280
Ring Chromosome 10 Syndrome
Microphthalmia, Downslanted palpebral fissures ORPHA:1438
Woodhouse-Sakati Syndrome
Alopecia, Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypog... OMIM:241080
Meckel Syndrome
Cataract, Pancreatic fibrosis, Anophthalmia, Sclerocornea, Abnormal chorioretinal morphology, Pan... ORPHA:564
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis, Bronchiectasis, Reduced visual acuity, Reduced sperm motility OMIM:615434
Sarcoidosis
Abnormal cardiac ventricular function, Facial palsy, Portal hypertension, Heart block, Ventricula... ORPHA:797
Cockayne Syndrome
Skeletal muscle atrophy, Dry hair, Congenital contracture, Lentiglobus, Retinal arteriolar constr... ORPHA:191
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Sparse hair, Downslanted palpebral fissures OMIM:620001
Abetalipoproteinemia
Ptosis, Blindness, Scotoma, Cardiomegaly, Congestive heart failure, Nyctalopia, Keratoconjunctivi... ORPHA:14
Chilblain Lupus
Raynaud phenomenon, Hyperkeratosis ORPHA:90280
Combined Oxidative Phosphorylation Deficiency 57
Reduced visual acuity, Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy... OMIM:620167
Pachyonychia Congenita
Alopecia, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyperkeratoses in flex... ORPHA:2309
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Telangiectasia... ORPHA:247691
Usher Syndrome Type 2
Myopia, Scotoma, Visual loss, Nyctalopia, Hemianopia ORPHA:231178
Hajdu-Cheney Syndrome
Telecanthus, Cataract, Abnormal fingernail morphology, Mitral stenosis, Ventricular septal defect... ORPHA:955
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Biemond Syndrome Type 2
Microphthalmia, Coloboma ORPHA:141333
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Highly arched eyebrow, Cryptorchidism, Low anterior hairline, Hirsutism, Woolly hair, Broad eyebrow OMIM:619244
Retinitis Pigmentosa 77
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity OMIM:617304
Xfe Progeroid Syndrome
Hypertension, Blindness, Premature ovarian insufficiency, Visual impairment OMIM:610965
1P36 Deletion Syndrome
Abnormal eyebrow morphology, Epicanthus, Abnormal heart valve morphology, Cryptorchidism, Dilated... ORPHA:1606
Combined Oxidative Phosphorylation Deficiency 11
Cardiomyopathy, Myopathy OMIM:614922
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Epicanthus, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Sy... ORPHA:536545
Neurotrophic Keratopathy
Anterior uveitis, Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosion... ORPHA:137596
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis, Hypertrophi... OMIM:615415
Von Hippel-Lindau Disease
Myocardial infarction, Myocarditis, Visual loss, Abnormal left ventricular function, Cardiomyopat... ORPHA:892
Combined Oxidative Phosphorylation Deficiency 40
Hypertrophic cardiomyopathy OMIM:618835
Hereditary Acrokeratotic Poikiloderma
Telangiectasia of the skin, Camptodactyly of finger, Palmoplantar hyperkeratosis, Keratoconjuncti... ORPHA:2907
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Blindness OMIM:236270
Cinca Syndrome
Blindness, Retrobulbar optic neuritis, Uveitis, Inflammatory abnormality of the eye, Visual impai... ORPHA:1451
Felty Syndrome
Episcleritis, Pericarditis, Sinusitis, Recurrent pneumonia, Synovitis, Arthritis, Rhinitis, Chron... ORPHA:47612
Aymé-Gripp Syndrome
Sparse scalp hair, Pericarditis, Pericardial effusion, Cryptorchidism, Bilateral ptosis, Upslante... ORPHA:1272
Schimke Immuno-Osseous Dysplasia
Transient ischemic attack, Minimal change glomerulonephritis, Congestive heart failure, Hypertens... ORPHA:1830
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Dextrocardia, Cryptorchidism, Complete atrioventricular canal defect, ... OMIM:264480
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death ORPHA:73224
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Skeletal muscle atrophy, Epicanthus, Tricuspid regurgitation, Microcornea, Myopathy, Mitral regur... OMIM:614557
Ramon Syndrome
Optic disc pallor, Telangiectasia, Hyperkeratosis, Pigmentary retinopathy, Axenfeld anomaly, Hype... OMIM:266270
Prolidase Deficiency
Abnormality of retinal pigmentation, Abnormal fingernail morphology, Low anterior hairline, Hyper... ORPHA:742
Bardet-Biedl Syndrome 20
Constriction of peripheral visual field, Bilateral cryptorchidism, Nyctalopia, Hypermetropia, Hem... OMIM:619471
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Epicanthus, Bicuspid aortic valve, Highly arched eyebrow, Cryptorchidism, Low posterior hairline,... OMIM:613563
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Photophobia, Na... ORPHA:1010
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Synophrys, Obesity, Fine hair, Upslanted palpebral fissure, Long eyelashes, Downslanted palpebral... OMIM:620250
Krabbe Disease
Blindness OMIM:245200
Phosphoribosylpyrophosphate Synthetase Superactivity
Myopia, Epicanthus, Cryptorchidism, Hypermetropia, Gout, Sparse hair, Downslanted palpebral fissu... OMIM:300661
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Abnormal pupil morphology, Arrhythmia ORPHA:2151
Miller Fisher Syndrome
Anisocoria, Ptosis, Facial palsy, Mydriasis ORPHA:98919
Carnitine Palmitoyltransferase Ii Deficiency
Cardiomyopathy, Arrhythmia, Rhabdomyolysis, Myopathy ORPHA:157
Wolfram Syndrome 1
Cardiomyopathy OMIM:222300
Bainbridge-Ropers Syndrome
Epicanthus, Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Synophrys, Hirsutism, Hy... OMIM:615485
Momo Syndrome
Epicanthus, Blindness, Hyperconvex nail, Eyelid coloboma, Downslanted palpebral fissures ORPHA:2563
Meckel Syndrome, Type 8
Pericardial effusion, Microphthalmia, Anophthalmia OMIM:613885
Marshall Syndrome
Myopia, Sparse eyelashes, Amblyopia, Sparse eyebrow, Osteoarthritis, Sparse hair, Visual impairment ORPHA:560
Smith-Lemli-Opitz Syndrome
Epicanthus, Cataract, Hypopigmentation of hair, Ventricular septal defect, Sclerocornea, Congenit... ORPHA:818
Retinitis Pigmentosa 14
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity OMIM:600132
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Joint contracture, ... OMIM:614457
Pseudo-Torch Syndrome 1
Cataract, Patent foramen ovale, Opacification of the corneal stroma OMIM:251290
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Nasolacrimal duct obstruction, Eyelid coloboma, Microphthalmia, Cryptophthalmos, Ab... OMIM:248450
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Eczema, Concave nail, Absent eyela... OMIM:305100
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Optic disc pallor, Multiple joint contractures, Corneal opacity, Anterior p... ORPHA:464306
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis, Nail dystrophy OMIM:175900
Schimke Immunoosseous Dysplasia
Transient ischemic attack, Bilateral cryptorchidism, Fine hair, Hypertension, Coarse hair, Astigm... OMIM:242900
Mucopolysaccharidosis Type 6
Macroglossia, Abnormal heart valve morphology, Opacification of the corneal stroma ORPHA:583
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Palmoplantar hyperkeratosis, Chorioretinal coloboma, Sparse hair, Highly arched eyebrow, Retinal ... OMIM:280000
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy, Pancreatitis OMIM:619386
Gaucher Disease
Mitral valve calcification, Corneal opacity, Abnormal pericardium morphology, Abnormal heart valv... ORPHA:355
Ichthyosis, Congenital, Autosomal Recessive 8
Orthokeratosis, Hyperkeratosis, Hypergranulosis, Ichthyosis OMIM:613943
Limb Body Wall Complex
Corneal opacity, Ventricular septal defect, Congenital diaphragmatic hernia, Diastasis recti, Abn... ORPHA:2369
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Atrial septal defect, Cataract, Portal hypertension, Cryptorchidism, Pulmonary arterial hypertens... OMIM:620005
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Myopia, Epicanthus, Bicuspid aortic valve, Ventricular septal defec... OMIM:607872
Isolated Complex I Deficiency
Hypertrophic cardiomyopathy, Blindness, Ptosis ORPHA:2609
Lathosterolosis
Epicanthus, Cataract, Microcornea, Opacification of the corneal stroma, Downslanted palpebral fis... ORPHA:46059
Treacher-Collins Syndrome
Thyroid hypoplasia, Cataract, Absent eyelashes, Cryptorchidism, Abnormal hair morphology, Low ant... ORPHA:861
Vici Syndrome
Cardiomyopathy ORPHA:1493
Fryns Syndrome
Atrial septal defect, Ectopic pancreatic tissue, Ventricular septal defect, Cryptorchidism, Narro... OMIM:229850
Acute Intermittent Porphyria
Proximal muscle weakness in lower limbs, Hypertension, Tachycardia, Proximal muscle weakness in u... ORPHA:79276
Porphyria, Acute Intermittent
Hypertension, Tachycardia OMIM:176000
Pancreatic insufficiency, combined exocrine
Congestive heart failure OMIM:260450
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Blindness, Ptosis OMIM:560000
Stickler Syndrome, Type I
Myopia, Blindness, Osteoarthritis, Mitral valve prolapse, Arthritis OMIM:108300
Scarf Syndrome
Epicanthus, Cryptorchidism, Low anterior hairline, Low posterior hairline, Hypoplastic nipples, S... OMIM:312830
Ovarian Dysgenesis 3
Primary amenorrhea, Female infertility OMIM:614324
Coats Disease
Exudative retinal detachment, Leukocoria, Retinal telangiectasia OMIM:300216
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Sparse hair, Brittle hair, Absent nipple, Absent hair OMIM:614940
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Wolfram Syndrome, Mitochondrial Form
Blindness OMIM:598500
Multiple System Atrophy 1, Susceptibility To
Iris atrophy, Orthostatic hypotension, Skeletal muscle atrophy, Ptosis OMIM:146500
Sheehan Syndrome
Dyspareunia, Orthostatic hypotension, Decreased female libido, Sparse axillary hair, Hashimoto th... ORPHA:91355
Scalp-Ear-Nipple Syndrome
Telecanthus, Abnormal fingernail morphology, Palpebral edema, Pyelonephritis, Hypertension, Eyeli... ORPHA:2036
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Sparse hair, Transposition of the great arteries OMIM:619910
Blindness-Scoliosis-Arachnodactyly Syndrome
Visual loss, Blindness ORPHA:171844
Congenital Microcoria
Blindness, Axial myopia, Nyctalopia, Photophobia, Hemeralopia, Visual impairment, Blurred vision ORPHA:566
Nablus Mask-Like Facial Syndrome
Telecanthus, Sparse eyelashes, Highly arched eyebrow, Blepharophimosis, Absent eyelashes, Cryptor... OMIM:608156
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Epicanthus, Aplasia of the thymus, Decreased response to growth hormone stimu... OMIM:618223
Leber Congenital Amaurosis 15
Myopia, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Hypermetropia... OMIM:613843
Down Syndrome
Myopia, Epicanthus, Decreased fertility, Upslanted palpebral fissure, Sparse hair ORPHA:870
Homozygous Familial Hypercholesterolemia
Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Heart murmur,... ORPHA:391665
Cone-Rod Dystrophy 10
Photophobia, Nyctalopia, Progressive visual loss, Peripheral visual field loss OMIM:610283
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Ret... ORPHA:29072
Proteasome-Associated Autoinflammatory Syndrome 1
Episcleritis, Sparse axillary hair, Cardiomegaly, Erythema nodosum, Congestive heart failure, Epi... OMIM:256040
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Hypertension, Leukocoria, Telangiectasia OMIM:219250
Neutral Lipid Storage Disease With Ichthyosis
Cardiomyopathy, Myopathy, Shoulder girdle muscle weakness, Increased intramyocellular lipid dropl... ORPHA:98907
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Telecanthus, Cryptorchidism, Cardiomyopathy, Abnormal cardiac septum morphology, Blepharophimosis... OMIM:217980
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Abnormal heart morphology, Stoma... ORPHA:79282
Weill-Marchesani Syndrome 1
Blindness, Ventricular septal defect, High myopia, Mitral regurgitation, Pulmonic stenosis, Shall... OMIM:277600
Night Blindness, Congenital Stationary, Type 1B
Hemeralopia, Myopia, Nyctalopia, Congenital stationary night blindness OMIM:257270
Cystinosis, Adult Nonnephropathic
Abnormal retinal morphology, Corneal crystals OMIM:219750
Marburg Hemorrhagic Fever
Shock, Tachycardia, Pericarditis, Hypovolemia, Capillary leak, Subconjunctival hemorrhage, Prolon... ORPHA:99826
Geleophysic Dysplasia 1
Tricuspid stenosis, Congestive heart failure, Upslanted palpebral fissure, Aortic valve stenosis,... OMIM:231050
Peters Plus Syndrome
Cataract, Corneal opacity, Cryptorchidism, Bicuspid pulmonary valve, Optic atrophy, Microcornea, ... ORPHA:709
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkeratosis, Onycholysis, Fol... OMIM:616295
Beta-Thalassemia
Hypertrophic cardiomyopathy, Hypogonadotropic hypogonadism, Hepatitis ORPHA:848
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Sparse facial hair, Sparse axillary hair OMIM:608154
Thrombocytopenia-Absent Radius Syndrome
Cataract, Corneal opacity, Ventricular septal defect, Shoulder muscle hypoplasia, Pancreatic cyst... OMIM:274000
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Nyctalopia ORPHA:99947
Severe X-Linked Intellectual Disability, Gustavson Type
Blindness, Ventricular septal defect ORPHA:3078
Canavan Disease
Blindness, Visual impairment OMIM:271900
Bosma Arhinia Microphthalmia Syndrome
Cataract, Cryptorchidism, Synophrys, Lacrimal duct atresia, Coloboma, Microphthalmia OMIM:603457
Severe Generalized Junctional Epidermolysis Bullosa
Alopecia, Recurrent skin infections, Pneumonia, Paronychia, Dilated cardiomyopathy, Gastrointesti... ORPHA:79404
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Late Infantile Neuronal Ceroid Lipofuscinosis
Visual loss, Myopia, Blindness, Reduced visual acuity ORPHA:168491
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Increased inflammatory response, Pericarditis, Recurrent intrapulmon... ORPHA:900
Mitochondrial Dna-Associated Leigh Syndrome
Cardiac conduction abnormality, Ragged-red muscle fibers, Dilated cardiomyopathy, Hypertrophic ca... ORPHA:255210
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Epicanthus, Supernumerary nipple, Abnormal eyelid morphology, Cryptorchidism, Aplastic/hypoplasti... ORPHA:1812
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Thick hair, Subretinal pigment epithelium hemorrhage, High myopia, Coarse hair, Sparse hair, Down... ORPHA:357074
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Left ventricular outflo... ORPHA:99050
Rothmund-Thomson Syndrome
Telangiectasia of the skin, Sparse eyelashes, Alopecia totalis, Skin rash, Sparse eyebrow, Infert... ORPHA:2909
Microphthalmia, Syndromic 9
Atrial septal defect, Anophthalmia, Ventricular septal defect, Congenital diaphragmatic hernia, C... OMIM:601186
Retinitis Pigmentosa 10
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity OMIM:180105
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Tricuspid regurgitation, Eczema, Congestive heart failure, Pannicul... ORPHA:508542
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Generalized ichthyosis, Abnormality of hair texture, Developmental cataract ORPHA:79351
Wilson Disease
Proximal muscle weakness in lower limbs, Kayser-Fleischer ring ORPHA:905
Sturge-Weber Syndrome
Conjunctival telangiectasia, Blindness, Pulmonary embolism, Abnormality of vision, Hemianopia ORPHA:3205
Lujo Hemorrhagic Fever
Shock, Maculopapular exanthema, Skin rash, Myocarditis, Fulminant hepatitis, Subconjunctival hemo... ORPHA:319213
Mosaic Trisomy 8
Corneal opacity, Camptodactyly of finger, Cryptorchidism, Arthrogryposis multiplex congenita, Dec... ORPHA:96061
Yunis-Varon Syndrome
Sparse scalp hair, Cataract, Sparse eyelashes, Ventricular septal defect, Sclerocornea, Cardiomeg... ORPHA:3472
Late-Infantile/Juvenile Krabbe Disease
Visual loss, Blindness, Visual impairment ORPHA:206443
Bardet-Biedl Syndrome 1
Myopia, Nyctalopia, Reduced visual acuity, Peripheral visual field loss, Hypertension, Hypogonadi... OMIM:209900
Hepatoerythropoietic Porphyria
Recurrent bacterial skin infections, Blindness, Scarring alopecia of scalp, Loss of eyelashes, Ke... ORPHA:95159
Porphyria, Congenital Erythropoietic
Absent eyebrow, Alopecia, Thickened skin, Loss of eyelashes, Corneal scarring, Conjunctivitis, Sc... OMIM:263700
Retinitis Pigmentosa 58
Nyctalopia, Peripheral visual field loss, Severely reduced visual acuity OMIM:613617
White-Sutton Syndrome
Myopia, Mild myopia, Hypermetropia, Upslanted palpebral fissure, Downslanted palpebral fissures, ... OMIM:616364
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy, Corneal crystals OMIM:219900
Mucopolysaccharidosis Type 7
Corneal opacity ORPHA:584
8P23.1 Microdeletion Syndrome
Epicanthus, Cryptorchidism, Upslanted palpebral fissure, Hypertrophic cardiomyopathy, Abnormal ca... ORPHA:251071
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Nail pits, Premature graying of hair, Interstitial pneumonitis, Budd-Chiar... OMIM:127550
Fanconi Anemia
Epicanthus, Cataract, Abnormal eyelid morphology, Almond-shaped palpebral fissure, Cryptorchidism... ORPHA:84
Gracile Bone Dysplasia
Aniridia, Microphthalmia OMIM:602361
Macrocephaly/Autism Syndrome
Hydrocele testis, Epicanthus, Coarse hair, Recurrent otitis media OMIM:605309
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia ORPHA:228308
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Gaucher Disease, Type Iiic
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Opacification of the cornea... OMIM:231005
Mitochondrial Complex I Deficiency, Nuclear Type 33
Sparse hair, Bronchiectasis, Aspiration pneumonia OMIM:618253
Osteopetrosis, Autosomal Recessive 2
Mandibular osteomyelitis, Blindness, Osteomyelitis, Chronic rhinitis due to narrow nasal airway OMIM:259710
Kaufman Oculocerebrofacial Syndrome
Myopia, Epicanthus, Telecanthus, Ventricular septal defect, Blepharophimosis, Sparse eyebrow, Ups... OMIM:244450
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Ventricular septal defect, Cryptorchidism, Dacryocystitis, Hypermetropia, Fine hair, Sparse hair,... ORPHA:251028
Hermansky-Pudlak Syndrome 6
Epistaxis, Amblyopia, Albinism, Reduced visual acuity, Photophobia OMIM:614075
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Cataract, Camptodactyly of finger, Band keratopathy, Uvei... OMIM:186580
Capillary Malformation-Arteriovenous Malformation
Epistaxis, High-output congestive heart failure, Congestive heart failure, Abnormal heart morphol... ORPHA:137667
Axenfeld-Rieger Syndrome, Type 1
Rieger anomaly, Decreased response to growth hormone stimulation test, Polycoria, Microcornea, Hy... OMIM:180500
Cutis Laxa, Autosomal Recessive, Type Iiia
Sparse hair, Cryptorchidism, Myopia OMIM:219150
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Myocardial infarction, Hypoplastic toenails, Gastrointestinal inflammation... ORPHA:99413
Mosaic Monosomy X
Bicuspid aortic valve, Myocardial infarction, Hypoplastic toenails, Gastrointestinal inflammation... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Myocardial infarction, Hypoplastic toenails, Gastrointestinal inflammation... ORPHA:99226
Turner Syndrome
Bicuspid aortic valve, Myocardial infarction, Hypoplastic toenails, Gastrointestinal inflammation... ORPHA:881
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Mitral valve calcification, Spontaneous, recurrent epistaxis, Corneal opacity, Aorti... ORPHA:2072
Plasminogen Deficiency, Type I
Nephritis, Blindness, Conjunctivitis, Periodontitis OMIM:217090
Donohue Syndrome
Skeletal muscle atrophy, Hyperkeratosis, Ovarian cyst, Nail dysplasia, Acanthosis nigricans, Hype... OMIM:246200
Lymphatic Malformation 4
Hydrocele testis, Hyperkeratosis, Toenail dysplasia OMIM:615907
Classic Pantothenate Kinase-Associated Neurodegeneration
Blindness, Aspiration pneumonia ORPHA:216866
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Pericardial effusi... OMIM:212065
Infantile Krabbe Disease
Abnormal heart rate variability, Photophobia, Blindness, Visual loss ORPHA:206436
Retinal Dystrophy With Or Without Macular Staphyloma
Photophobia, Central scotoma, Nyctalopia, Reduced visual acuity OMIM:617547
Shigellosis
Pneumonia, Myocarditis, Peritonitis, Uveitis, Ulcerative colitis, Arthritis, Hypovolemic shock, C... ORPHA:810
Ectodermal Dysplasia/Short Stature Syndrome
Hyperkeratosis, Anonychia, Palmoplantar keratoderma, Nail dystrophy OMIM:616029
Oculocerebrorenal Syndrome Of Lowe
Sparse scalp hair, Hyperparathyroidism, Cataract, Corneal opacity, Chorioretinal dysplasia, Crypt... ORPHA:534
Trisomy 20P
Epicanthus, Thick hair, Highly arched eyebrow, Blepharophimosis, Cryptorchidism, Low anterior hai... ORPHA:261318
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Cataract, Cryptorchidism, Microphthalmia, Iris coloboma ORPHA:2250
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Myopia, Congestive heart failure, Recurrent pneumonia, Arterial rupture, Hypermetropia, Mitral va... ORPHA:1900
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Epicanthus, Cataract, Bicuspid aortic valve, Sutural cataract, Highly arche... OMIM:612474
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Optic disc pallor, Parakeratosis, Hyperkeratosis, Ichthyosis, Acanthosis nigricans OMIM:618527
Nocardiosis
Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Scotoma, Pneumonia, Keratitis, Dacr... ORPHA:31204
Cholera
Hypovolemic shock, Tachycardia, Hypotension ORPHA:173
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Synophrys, Glomerulonephritis, Fine hair OMIM:619428
Lateral Meningocele Syndrome
Telecanthus, Decreased muscle mass, Bicuspid aortic valve, Ventricular septal defect, Cryptorchid... OMIM:130720
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia ORPHA:348
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse hair, Sparse eyelashes, Sparse eyebrow OMIM:224900
Sepsis In Premature Infants
Tachycardia, Bradycardia, Hypotension ORPHA:90051
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Hypertension, Orthostatic hypotension, Tachycardia OMIM:223900
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Epicanthus, Dry hair, Muscular ventricular septal defect, Low anterior hairline, Intrinsic hand m... OMIM:618569
Acute Zonal Occult Outer Retinopathy
Myopia, Constriction of peripheral visual field, Blind-spot enlargment, Scotoma, Photopsia, Visua... ORPHA:284454
Charcot-Marie-Tooth Disease Type 1E
Hand muscle atrophy, Distal lower limb amyotrophy, Peroneal muscle weakness, Hand muscle weakness... ORPHA:90658
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Hypertension... ORPHA:340
Cockayne Syndrome B
Dry hair, Abnormal hair morphology, Cryptorchidism, Optic atrophy, Developmental cataract, Microc... OMIM:133540
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Corneal opacity, Congestive heart failure, Dilatation of the ventricular ca... ORPHA:90348
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis, Parakeratosis OMIM:618339
Trichorhinophalangeal Syndrome Type 1
Sparse eyelashes, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails ORPHA:77258
Dubowitz Syndrome
Hypoparathyroidism, Ptosis, Epicanthus, Cataract, Telecanthus, Sparse scalp hair, Abnormal finger... ORPHA:235
Retinitis Punctata Albescens
Central scotoma, Nyctalopia, Progressive visual field defects, Peripheral visual field loss, Phot... ORPHA:52427
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Hypertrophic cardiomyopathy, Highly arched eyebrow, Conjunctival h... OMIM:619121
Neu-Laxova Syndrome 1
Ablepharon, Cataract, Ventricular septal defect, Absent eyelashes, Cryptorchidism, Transposition ... OMIM:256520
Treacher Collins Syndrome 1
Sparse lower eyelashes, Lacrimal duct stenosis, Cryptorchidism, Bilateral microphthalmos, Lower e... OMIM:154500
Friedreich Ataxia
Hand muscle atrophy, Cardiomyopathy ORPHA:95
Wiedemann-Rautenstrauch Syndrome
Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Synophrys, Congenit... ORPHA:3455
Pheochromocytoma/Paraganglioma Syndrome 4
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:115310
Congenital Disorder Of Deglycosylation 1
Facial hypotonia, Corneal opacity, Intrinsic hand muscle atrophy, Corneal ulceration, Ptosis OMIM:615273
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Epicanthus, Fine hair, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of the eyebrow OMIM:614091
Retinitis Pigmentosa 75
Myopia, Nyctalopia, Peripheral visual field loss OMIM:617023
Retinitis Pigmentosa 25
Photophobia, Nyctalopia, Constriction of peripheral visual field OMIM:602772
Roberts-Sc Phocomelia Syndrome
Atrial septal defect, Cataract, Corneal opacity, Ventricular septal defect, Ankle flexion contrac... OMIM:268300
Syndromic Diarrhea
Aortic regurgitation, Hypopigmentation of hair, Brittle hair, Ventricular septal defect, Bicuspid... ORPHA:84064
Lipoid Proteinosis
Hyperkeratosis, Thickened skin, Alopecia of scalp ORPHA:530
Aicardi Syndrome
Retinal detachment, Cataract, Chorioretinal lacunae, Optic disc coloboma, Optic atrophy, Micropht... OMIM:304050
Aicardi-Goutieres Syndrome 1
Cardiomyopathy, Vasculitis OMIM:225750
Menke-Hennekam Syndrome 1
Blindness, Epicanthus, Telecanthus, Blepharophimosis, Cryptorchidism, Hypermetropia, Upslanted pa... OMIM:618332
Chilton-Okur-Chung Neurodevelopmental Syndrome
Hooded eyelid, Synophrys, Low anterior hairline, Sparse hair, Patent foramen ovale, Highly arched... OMIM:619841
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, Albinism, White hair, Reduced visual acuity, Photophobia ORPHA:79435
Trichinellosis
Facial palsy, Central retinal artery occlusion, Retinal hemorrhage, Anisocoria, Conjunctivitis, A... ORPHA:863
Dyskeratosis Congenita
Abnormal eyebrow morphology, Alopecia, Telangiectasia of the skin, Abnormal fingernail morphology... ORPHA:1775
Renal Nutcracker Syndrome
Orthostatic hypotension, Syncope, Tachycardia ORPHA:71273
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Flexion contracture, Muscle fiber necrosis... OMIM:254090
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Parakeratosis, Alopecia, Flexion contracture, Hyperkeratosis, Congenital ichthyosiform erythroder... OMIM:308050
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy ORPHA:369
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Papilledema, Developmental cataract, Retinal calcification, Microphthalmia OMIM:127000
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Left ventricular hypertrophy, Congestive heart failure OMIM:619355
Retinitis Pigmentosa 13
Nyctalopia, Constriction of peripheral visual field OMIM:600059
Chronic Mucocutaneous Candidiasis
Abnormal endocardium morphology, Abnormal fingernail morphology, Broad nail, Hyperkeratosis, Abno... ORPHA:1334
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Singleton-Merten Syndrome 2
Hyperkeratosis, Aortic valve stenosis, Aortic valve calcification, Arrhythmia OMIM:616298
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Retinitis Pigmentosa 41
Nyctalopia, Peripheral visual field loss, Severely reduced visual acuity OMIM:612095
Retinitis Pigmentosa 56
Nyctalopia, Reduced visual acuity, Visual field defect OMIM:613581
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Hypoplastic toenails, Hypertrophic cardiomyopathy, Cardiac arrest, Myofiber disarray OMIM:604377
Trichorhinophalangeal Syndrome, Type Iii
Sparse hair, Sparse lateral eyebrow OMIM:190351
Noonan Syndrome 1
Male infertility, Myopia, Epicanthus, Ventricular septal defect, Cryptorchidism, Synovitis, Low p... OMIM:163950
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Conjunctival telangiectasia, Blindness ORPHA:95433
Cerebrofaciothoracic Dysplasia
Epicanthus, Abnormal hair pattern, Synophrys, Low posterior hairline, Coarse hair, Downslanted pa... ORPHA:1394
Ruijs-Aalfs Syndrome
Premature graying of hair, Hypogonadism, Sparse hair OMIM:616200
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Tooth Agenesis, Selective, 4
Sparse scalp hair, Sparse eyebrow, Photophobia, Short eyelashes, Dystrophic fingernails, Sparse b... OMIM:150400
Chromosome 13Q33-Q34 Deletion Syndrome
Epicanthus, Cryptorchidism, Small thenar eminence, Pulmonic stenosis, Camptodactyly, Left ventric... OMIM:619148
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Brittle hair, Cataract, Ragged-red muscle fibers, Rhabdomyolysis, Hypertrophic cardiomyopathy, Ro... OMIM:124000
Dyskeratosis Congenita, Autosomal Recessive 6
Sparse hair, Alopecia, Nail dystrophy OMIM:616353
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Syncope, Hypotension ORPHA:98849
Williams Syndrome
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Hypoplastic toenails, Atrial septal d... ORPHA:904
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Epicanthus, Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Heart murmur, Anisocoria... OMIM:618653
3-Methylglutaconic Aciduria Type 7
Cardiomyopathy ORPHA:445038
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis OMIM:133200
Vacterl With Hydrocephalus
Anophthalmia, Cryptorchidism, Microcornea, Abnormal optic nerve morphology, Microphthalmia ORPHA:3412
Coccidioidomycosis
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Peritonitis, Vasculitis, Pho... ORPHA:228123
Immunodeficiency 87 And Autoimmunity
Small for gestational age, Dilated cardiomyopathy, Biventricular hypertrophy, Hypertension, Third... OMIM:619573
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Patent ductus arteriosus, Fine hair, Narrow palpebral fissure, Truncal obesity, Atrial septal def... ORPHA:2637
Seckel Syndrome 10
Ventricular hypertrophy, Hypertension, Acute pancreatitis, Congestive heart failure OMIM:617253
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Myopia, Epicanthus, Blindness, Telecanthus, Cryptorchidism, Infectious encephalitis ORPHA:847
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, ... ORPHA:91387
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nyctalopia, Ventricular septal defect OMIM:615630
Osteopetrosis, Autosomal Recessive 1
Blindness, Osteomyelitis, Visual impairment OMIM:259700
Ichthyosis Prematurity Syndrome
Alopecia of scalp, Generalized ichthyosis, Follicular hyperkeratosis OMIM:608649
Retinitis Pigmentosa 43
Nyctalopia, Peripheral visual field loss, Visual impairment OMIM:613810
Imerslund-Gräsbeck Syndrome
Tachycardia ORPHA:35858
Hereditary Sensory And Autonomic Neuropathy Type 1
Hyperkeratosis, Distal amyotrophy, Foot dorsiflexor weakness ORPHA:36386
Cartilage-Hair Hypoplasia
Myopia, Epicanthus, Heart block, Sparse eyebrow, Cardiomyopathy, Abnormal cardiac septum morpholo... ORPHA:175
Congenital Disorder Of Glycosylation, Type Iia
Ventricular septal defect, Hirsutism, Long eyelashes, Sparse hair, Downslanted palpebral fissures... OMIM:212066
Van Den Ende-Gupta Syndrome
Abnormal eyebrow morphology, Sclerocornea, Elbow flexion contracture, Knee flexion contracture, C... OMIM:600920
Aredyld Syndrome
Upslanted palpebral fissure, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:1133
Ayme-Gripp Syndrome
Sparse scalp hair, Pericarditis, Upslanted palpebral fissure, Nail dystrophy, Downslanted palpebr... OMIM:601088
Nicolaides-Baraitser Syndrome
Absent eyebrow, Dry hair, Sparse scalp hair, Eczema, Cryptorchidism, Low anterior hairline, Low p... OMIM:601358
Dyggve-Melchior-Clausen Disease
Limb muscle weakness, Corneal opacity ORPHA:239
3-Methylglutaconic Aciduria, Type Viib
Congestive heart failure, Recurrent pneumonia OMIM:616271
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Vasculitis, Retinal hemorrhage ORPHA:33226
Infantile Neuroaxonal Dystrophy
Blindness, Aspiration pneumonia ORPHA:35069
Autosomal Recessive Cutis Laxa Type 1
Abnormal cardiac ventricular function, Congestive heart failure, Dilatation of the ventricular ca... ORPHA:90349
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Eczema, Congestive heart failure, Patent foramen ovale, Bro... ORPHA:391487
Charge Syndrome
Epicanthus, Anophthalmia, Facial palsy, Highly arched eyebrow, Cryptorchidism, Optic atrophy, Eye... ORPHA:138
Hyperthyroidism, Nonautoimmune
Tachycardia OMIM:609152
Brucellosis
Anterior uveitis, Pericarditis, Osteomyelitis, Transient ischemic attack, Pneumonia, Glomerulonep... ORPHA:1304
Acrokeratoelastoidosis Of Costa
Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis ORPHA:38
Pachyonychia Congenita 1
Nail dystrophy, Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Onychogryposis OMIM:167200
Craniolenticulosutural Dysplasia
Brittle hair, Cryptorchidism, Punctate cataract, Optic atrophy, Coarse hair, Posterior Y-sutural ... OMIM:607812
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Brittle hair, Small for gestational age, Failure to thrive in infancy, Flexion contracture, Gener... OMIM:618891
Cartilage-Hair Hypoplasia
Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair OMIM:250250
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Epicanthus, Scapular winging, Tricuspid regurgitation, Abnormality of hair texture, Thickened ski... ORPHA:73223
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hypoplastic toenails, Cryptorchidism, Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:612938
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Muscle hypertrophy of the lower extrem... ORPHA:1772
Branchiooculofacial Syndrome
Telecanthus, Cataract, Anophthalmia, Hypoplastic fingernail, Supernumerary nipple, Facial palsy, ... OMIM:113620
Cranioectodermal Dysplasia 2
Unilateral ptosis, Epicanthus, Telecanthus, Sparse eyelashes, Cholangitis, Blepharophimosis, Spar... OMIM:613610
Albinism, Oculocutaneous, Type Ia
Myopia, Hypopigmentation of hair, Albinism, White hair, Reduced visual acuity, Photophobia, Visua... OMIM:203100
Familial Mediterranean Fever
Pericarditis, Skin rash, Myocardial infarction, Orchitis, Osteoarthritis, Vasculitis, Peritonitis... ORPHA:342
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Overriding aorta, Microphthalmia, Cyclopia, Tetralogy of Fallot, Iris coloboma ORPHA:3186
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Bronchiectasis, Mitral... OMIM:123700
Mitochondrial Complex I Deficiency, Nuclear Type 1
Blindness, Concentric hypertrophic cardiomyopathy, Upslanted palpebral fissure, Hypertrophic card... OMIM:252010
Aceruloplasminemia
Blepharospasm, Congestive heart failure ORPHA:48818
Ohdo Syndrome, X-Linked
Epicanthus, Sparse eyebrow, Cryptorchidism, Blepharophimosis, Microphthalmia, High anterior hairl... OMIM:300895
Aica-Ribosiduria
Congenital blindness ORPHA:250977
Retinitis Pigmentosa 45
Nyctalopia, Peripheral visual field loss OMIM:613767
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Acrofacial Dysostosis, Catania Type
Cryptorchidism, Coarse hair, Downslanted palpebral fissures, Abnormal hair pattern ORPHA:1786
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Abnormal muscle fiber morphology, Rhabdomyolysis, Shortened PR interval, I... ORPHA:79102
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Cardiomyopathy, Brittle hair OMIM:616084
Aicardi-Goutieres Syndrome 9
Pericarditis, Acute pancreatitis, Chilblains, Portal hypertension, Pericardial effusion, Hyperten... OMIM:619487
Ichthyosis, Annular Epidermolytic, 2
Orthokeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Ichthyosis OMIM:620148
Noonan Syndrome
Abnormal hair quantity, Hypogonadotropic hypogonadism, Abnormal pulmonary valve morphology, Crypt... ORPHA:648
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia, Hyperkeratosis ORPHA:163966
Achromatopsia 2
Nyctalopia, Reduced visual acuity, Photophobia, Hemeralopia, Achromatopsia OMIM:216900
Zimmermann-Laband Syndrome 1
Myopia, Thick eyebrow, Thick hair, Highly arched eyebrow, Synophrys, Low anterior hairline, Cardi... OMIM:135500
Craniolenticulosutural Dysplasia
Sparse hair, Coarse hair, Brittle hair, Posterior Y-sutural cataract ORPHA:50814
Intellectual Developmental Disorder And Retinitis Pigmentosa
Nyctalopia, Reduced visual acuity OMIM:618195
Meningioma
Bitemporal hemianopia, Blindness, Hypogonadotropic hypogonadism, Cerebral hemorrhage, Slow decrea... ORPHA:2495
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Myopia, Eczema, Synophrys, Nasolacrimal duct obstruction, Downslanted palpebral fissures, Sparse ... OMIM:300966
Rothmund-Thomson Syndrome Type 1
Premature ovarian insufficiency, Alopecia totalis, Cryptorchidism, Telangiectasia, Sparse or abse... ORPHA:221008
Proteus Syndrome
Central heterochromia, Decreased muscle mass, Pulmonary embolism, Chorioretinal coloboma, Abnorma... ORPHA:744
Combined Immunodeficiency-Enteropathy Spectrum
Absent eyebrow, Psoriasiform dermatitis, Ventricular septal defect, Hepatitis, Nail dystrophy, Sp... ORPHA:436252
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Wars2-Related Combined Oxidative Phosphorylation Defect
Cardiomyopathy, Generalized amyotrophy, Limb hypertonia ORPHA:572798
Primary Hyperoxaluria
Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermittent claudication ORPHA:416
Tetrasomy 9P
Myopia, Pericarditis, Epicanthus, Myositis, Dextrocardia, Amblyopia, Raynaud phenomenon, Cryptorc... ORPHA:3310
Meckel Syndrome, Type 4
Atrial septal defect, Microphthalmia, Ventricular septal defect, Bile duct proliferation OMIM:611134
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Developmental Malformations-Deafness-Dystonia Syndrome
Blindness ORPHA:79107
Aica-Ribosuria Due To Atic Deficiency
Secundum atrial septal defect, Congenital blindness OMIM:608688
Kanzaki Disease
Telangiectasia of the oral mucosa, Lip telangiectasia, Tortuosity of conjunctival vessels, Lacuna... OMIM:609242
Opitz-Kaveggia Syndrome
Epicanthus, Cryptorchidism, Fine hair, Abnormal heart morphology, Frontal upsweep of hair, Sparse... OMIM:305450
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Recurrent skin infections, Glomerulonephritis, Visual loss, Dilated cardiomyopathy, Gastrointesti... ORPHA:79408
Johanson-Blizzard Syndrome
Sparse scalp hair, Absent lacrimal punctum, Failure to thrive, Ventricular septal defect, Small f... OMIM:243800
Neurooculorenal Syndrome
Iris atrophy, Ectopic posterior pituitary, Dextrocardia, Highly arched eyebrow, Cryptorchidism, M... OMIM:620305
White-Sutton Syndrome
Myopia, Blindness, Hypermetropia, Abnormal heart morphology, Visual impairment ORPHA:468678
Coenzyme Q10 Deficiency, Primary, 1
Visual loss, Hypertrophic cardiomyopathy, Hypergonadotropic hypogonadism OMIM:607426
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Atrial septal defect, Epicanthus, Torticollis, Cryptorchidism, Antecubital pterygium, Knee flexio... OMIM:609945
Immunodeficiency 22
Chronic oral candidiasis, Pericarditis, Panniculitis, Capillary leak OMIM:615758
Heart And Brain Malformation Syndrome
Microphthalmia, Ventricular septal defect, Camptodactyly of finger, Limb hypertonia OMIM:616920
Weaver Syndrome
Deep-set nails, Epicanthus, Thin nail, Cryptorchidism, Fine hair, Hydrocele testis, Sparse hair, ... OMIM:277590
Achalasia-Addisonianism-Alacrima Syndrome
Anisocoria, Orthostatic hypotension, Optic atrophy, Palmoplantar hyperkeratosis OMIM:231550
Charge Syndrome
Anophthalmia, Decreased response to growth hormone stimulation test, Secundum atrial septal defec... OMIM:214800
Alternating Hemiplegia Of Childhood
Facial hypotonia, Cardiac conduction abnormality, Cardiomyopathy, Abnormal T-wave, Arrhythmia ORPHA:2131
Restrictive Dermopathy
Atrial septal defect, Telecanthus, Entropion, Multiple joint contractures, Short nail, Dextrocard... ORPHA:1662
Gapo Syndrome
Alopecia, Epicanthus, Sparse eyelashes, Sparse eyebrow, Photophobia, Hypoplastic nipples, Nail dy... OMIM:230740
Plague
Tachycardia, Hematemesis, Endocarditis, Hypotension, Arrhythmia ORPHA:707
Toriello-Carey Syndrome
Telecanthus, Sparse eyebrow, Cryptorchidism, Cardiomyopathy, Abnormal cardiac septum morphology, ... ORPHA:3338
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis OMIM:136630
Fontaine Progeroid Syndrome
Bicuspid aortic valve, Hypoplasia of the abdominal wall musculature, Synophrys, Low anterior hair... OMIM:612289
Mucopolysaccharidosis, Type Iva
Abnormal heart valve morphology, Opacification of the corneal stroma OMIM:253000
Focal Dermal Hypoplasia
Ridged nail, Brittle hair, Anophthalmia, Congenital diaphragmatic hernia, Absent fingernail, Chor... OMIM:305600
Monosomy 9P
Epicanthus, Thin nail, Highly arched eyebrow, Congenital diaphragmatic hernia, Cryptorchidism, Sy... ORPHA:261112
Holoprosencephaly 7
Synophrys, Bilateral microphthalmos, Upslanted palpebral fissure, Shallow orbits, Microphthalmia,... OMIM:610828
Psoriasis 2
Hyperkeratosis, Parakeratosis OMIM:602723
Tuberous Sclerosis 1
Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma OMIM:191100
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anterior uveitis, Blindness, Inflammatory abnormality of the skin, Skin rash, Symblepharon, Trich... ORPHA:95455
Congenital Disorder Of Glycosylation, Type If
Hyperkeratosis, Flexion contracture, Optic atrophy OMIM:609180
Combined Oxidative Phosphorylation Deficiency 5
Hypertrophic cardiomyopathy OMIM:611719
Rh Deficiency Syndrome
Tachycardia ORPHA:71275
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Epicanthus, Arrhythmia, Hypertrophic cardiomyopathy, Downslanted palpebral fissures, Thick eyebrow OMIM:615471
Wolfram Syndrome
Gastrointestinal hemorrhage, Cardiomyopathy, Myopathy ORPHA:3463
Noonan Syndrome 3
Epicanthus, Ventricular septal defect, Cryptorchidism, Mitral valve prolapse, Downslanted palpebr... OMIM:609942
Orofaciodigital Syndrome Type 1
Alopecia, Brittle hair, Epicanthus, Telecanthus, Hypertension, Coarse hair, Sparse hair, Downslan... ORPHA:2750
Kikuchi-Fujimoto Disease
Alopecia, Palpebral edema, Skin rash, Pustule, Myocarditis, Vasculitis, Vasculitis in the skin, M... ORPHA:50918
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis OMIM:148600
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Nail dystrophy, Palmoplantar hyperkeratosis ORPHA:158681
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Telecanthus, Cardiomegaly OMIM:616897
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Follicular hyperkeratosis OMIM:613736
Rabson-Mendenhall Syndrome
Ventricular septal defect, Thick hair, Onychauxis, Low anterior hairline, Premature graying of ha... ORPHA:769
Myoclonic-Astatic Epilepsy
Microphthalmia, Frontal balding ORPHA:1942
Ectopia Pupillae
Ectopia pupillae OMIM:129750
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypergonadotropic hypogonadism, Dysmenorrhea, Sparse axillary hair, Decreased fertility in female... ORPHA:90796
Igg4-Related Dacryoadenitis And Sialadenitis
Blindness, Myositis, Palpebral edema, Enlarged lacrimal glands, Thyroiditis, Abnormality of the o... ORPHA:79078
Cowden Syndrome
Cataract, Conjunctival hamartoma, Enlarged polycystic ovaries, Macroglossia, Palmoplantar keratod... ORPHA:201
Dowling-Degos Disease
Hyperkeratosis, Hyperkeratotic papule, Abnormal fingernail morphology ORPHA:79145
Cranioectodermal Dysplasia 3
Telecanthus, Short nail, Broad nail, Fine hair, Sparse hair OMIM:614099
Retinoblastoma
Abnormality of retinal pigmentation, Rhabdomyosarcoma, Subretinal pigment epithelium hemorrhage, ... ORPHA:790
Degcags Syndrome
Tachycardia, Diaphragmatic eventration, Ventricular septal defect, Pulmonic stenosis, Atrial sept... OMIM:619488
Orofaciodigital Syndrome I
Dry hair, Alopecia, Epicanthus, Telecanthus, Abnormal heart morphology, Hypertension, Sparse hair... OMIM:311200
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Flexion contracture, Optic nerve hypoplasia OMIM:614833
X-Linked Cerebral Adrenoleukodystrophy
Male hypogonadism, Blindness, Reduced visual acuity ORPHA:139396
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Broad eyebrow, Osteomyelitis, Ventricular septal defect, Bicuspid aortic va... OMIM:619475
Lathosterolosis
Epicanthus, Cataract, Bilobate gallbladder, Opacification of the corneal stroma, Downslanted palp... OMIM:607330
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Camptodactyly of finger ORPHA:2547
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Sparse hair, Alopecia, Abnormal fingernail morphology ORPHA:659
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cardiomyopathy, Skeletal muscle atrophy, Increased sarcoplasmic glycogen ORPHA:264580
Mednik Syndrome
Hyperkeratosis, Ichthyosis ORPHA:171851
Adams-Oliver Syndrome 1
Alopecia, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Hypertension, P... OMIM:100300
Gaucher Disease, Perinatal Lethal
Cardiomegaly, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Arthr... OMIM:608013
Cockayne Syndrome A
Hip contracture, Dry hair, Cataract, Retinal atrophy, Cryptorchidism, Retinal pigment epithelial ... OMIM:216400
Ocular Cystinosis
Corneal crystals ORPHA:411641
Galloway-Mowat Syndrome 9
Almond-shaped palpebral fissure, Coarse hair OMIM:619603
Congenital Erythropoietic Porphyria
Recurrent bacterial skin infections, Blindness, Scarring alopecia of scalp, Loss of eyelashes, Ke... ORPHA:79277
Townes-Brocks Syndrome
Atrial septal defect, Cataract, Abnormal pulmonary valve morphology, Blepharophimosis, Cryptorchi... ORPHA:857
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Visual loss, Nyctalopia, Osteomyelitis ORPHA:88628
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans ORPHA:409
Stuve-Wiedemann Syndrome 1
Elbow flexion contracture, Knee flexion contracture, Pulmonary arterial hypertension, Opacificati... OMIM:601559
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... OMIM:300967
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Chor... ORPHA:50
Intellectual Developmental Disorder, Autosomal Dominant 68
Epicanthus, Cerebral visual impairment, Hypermetropia, Sparse hair, Ptosis OMIM:619934
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Central scotoma, Blindness, Visual impairment ORPHA:543470
Alström Syndrome
Hypoplasia of the Leydig cells, Photophobia, Otitis media, Portal hypertension, Testicular fibros... ORPHA:64
Triosephosphate Isomerase Deficiency
Congestive heart failure, Cholecystitis OMIM:615512
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Blindness ORPHA:713
Marfan Syndrome
Aortic regurgitation, Myopia, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart fa... OMIM:154700
Fanconi Anemia, Complementation Group C
Epicanthus, Ventricular septal defect, Cryptorchidism, Flexion contracture, Microphthalmia OMIM:227645
Galloway-Mowat Syndrome 3
Epicanthus, Hypertension, Camptodactyly, Microphthalmia, Downslanted palpebral fissures OMIM:617729
Postinfectious Vasculitis
Cerebral vasculitis, Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative... ORPHA:48435
Ciliary Dyskinesia, Primary, 1
Situs inversus totalis, Abnormal cornea morphology OMIM:244400
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Ichthyosis, Congenital, Autosomal Recessive 5
Orthokeratosis, Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform eryt... OMIM:604777
Irida Syndrome
Hyperkeratosis, Ichthyosis ORPHA:209981
Friedreich Ataxia 2
Abnormal EKG, Concentric hypertrophic cardiomyopathy, Muscular subvalvular aortic stenosis, Conge... OMIM:601992
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Cryptorchidism, Fine hair, Premature graying of hair, Nail dysplasia OMIM:613990
Mirizzi Syndrome
Tachycardia ORPHA:521219
Cranioectodermal Dysplasia 1
Myopia, Epicanthus, Telecanthus, Bicuspid aortic valve, Short nail, Thin nail, Slow-growing hair,... OMIM:218330
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Restrictive cardiomyopathy, Visual impairment, Hypermetropia, Cerebral visual impairment OMIM:615398
Blau Syndrome
Pericarditis, Skin rash, Keratitis, Visual loss, Retrobulbar optic neuritis, Erythema nodosum, Ir... ORPHA:90340
Pantothenate Kinase-Associated Neurodegeneration
Blindness, Nyctalopia, Peripheral visual field loss, Visual field defect, Visual impairment ORPHA:157850
Genitopatellar Syndrome
Atrial septal defect, Cryptorchidism, Sparse scalp hair, Fine hair ORPHA:85201
Carney Complex
Sertoli cell neoplasm, Testicular neoplasm, Ductal carcinoma in situ, Cardiac myxoma, Congestive ... ORPHA:1359
Beta-Thalassemia Intermedia
High-output congestive heart failure, Hypogonadism, Pulmonary arterial hypertension ORPHA:231222
Vulvovaginal Gingival Syndrome
Ridged nail, Parakeratosis ORPHA:83453
Mandibuloacral Dysplasia With Type B Lipodystrophy
Sparse hair, Alopecia, Brittle hair OMIM:608612
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Hypopigmentation of hair, Telecanthus, Widow's peak, Upslanted palpebral fissure, Coars... ORPHA:1974
Cryptococcosis
Blindness, Osteomyelitis, Pneumonia, Peritonitis, Abnormality of vision, Prostatitis ORPHA:1546
Marfan Syndrome
Myopia, Mitral valve calcification, Arthralgia/arthritis, Congestive heart failure, Mitral valve ... ORPHA:558
Osteogenesis Imperfecta, Type Xx
Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow OMIM:618644
Solitary Median Maxillary Central Incisor
Anophthalmia, Decreased response to growth hormone stimulation test, Coloboma, Microphthalmia, Cy... OMIM:147250
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Atrial septal defect, Hip contracture, Sparse eyelashes, Ventricular septal de... OMIM:210710
Lethal Ataxia With Deafness And Optic Atrophy
Blindness, Visual impairment ORPHA:1187
Seckel Syndrome 2
Microphthalmia, Heart murmur OMIM:606744
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis OMIM:148500
Corneodermatoosseous Syndrome
Abnormal fingernail morphology, Nyctalopia, Photophobia, Hemeralopia, Absent fingernail ORPHA:3194
Nephronophthisis 11
Anisocoria, Retinal degeneration OMIM:613550
Monosomy 22
Epicanthus, Seborrheic dermatitis, Synophrys, Narrow palpebral fissure, Sparse hair ORPHA:96123
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Coffin-Siris Syndrome 1
Sparse scalp hair, Dry hair, Atrial septal defect, Ventricular septal defect, Congenital diaphrag... OMIM:135900
Tay-Sachs Disease
Blindness OMIM:272800
Witteveen-Kolk Syndrome
Medial flaring of the eyebrow, Epicanthus, Cataract, Unilateral cryptorchidism, Decreased respons... OMIM:613406
Glass Syndrome
Sparse hair, Downslanted palpebral fissures, Long eyelashes, Nail dysplasia OMIM:612313
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Chorioretinal coloboma, Microphthalmia, Cyclopia, Iris c... OMIM:157170
Familial Mediterranean Fever
Pericarditis, Orchitis, Peritonitis, Arthritis, Crohn's disease, Erysipelas OMIM:249100
Leopard Syndrome 1
Bundle branch block, Epicanthus, Delayed menarche, Complete atrioventricular canal defect, Crypto... OMIM:151100
Gitelman Syndrome
Prolonged QT interval, Raynaud phenomenon, Pericardial effusion, Rhabdomyolysis, Low-to-normal bl... ORPHA:358
Infection-Related Hemolytic Uremic Syndrome
Hypertensive crisis, Pneumonia, Cerebral visual impairment, Myocarditis, Hypertension, Septic art... ORPHA:544482
Adrenomyeloneuropathy
Frontal balding, Fine hair, Male sexual dysfunction, Erectile dysfunction, Abnormal libido, Femal... ORPHA:139399
Facial Spasm
Anisocoria OMIM:134300
Microphthalmia, Syndromic 6
Anophthalmia, Retinal dystrophy, Sclerocornea, Cryptorchidism, Orbital cyst, Microcornea, Colobom... OMIM:607932
Somatomammotropinoma
Hypogonadotropic hypogonadism, Dysmenorrhea, Abnormal fingernail morphology, Palpebral edema, Syn... ORPHA:314769
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Osteopetrosis, Autosomal Recessive 8
Facial palsy, Optic atrophy, Unilateral microphthalmos OMIM:615085
Meckel Syndrome, Type 1
Camptodactyly of finger, Cryptorchidism, Abnormal cardiac septum morphology, Bile duct proliferat... OMIM:249000
Primary Sclerosing Cholangitis
Portal hypertension, Spider hemangioma, Congestive heart failure, Hepatitis, Uveitis, Ulcerative ... ORPHA:171
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
Acromegaly
Hypogonadotropic hypogonadism, Dysmenorrhea, Abnormal fingernail morphology, Palpebral edema, Acn... ORPHA:963
Retinitis Pigmentosa 86
Nyctalopia, Progressive visual loss OMIM:618613
Erythrokeratodermia Variabilis Et Progressiva 6
Parakeratosis OMIM:618531
Lymphatic Malformation 12
Hydrocele testis, Hyperkeratosis OMIM:620014
Bickerstaff Brainstem Encephalitis
Facial palsy, Mydriasis, Anisocoria, Weakness of facial musculature, Limb muscle weakness, Facial... ORPHA:79138
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrioventricular block ORPHA:93317
Tuberous Sclerosis 2
Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma OMIM:613254
Stickler Syndrome
Myopia, Blindness, Epicanthus, Telecanthus, Osteoarthritis, Uveitis, Mitral valve prolapse, Chron... ORPHA:828
Roberts Syndrome
Cataract, Progressive flexion contractures, Cryptorchidism, Knee flexion contracture, Sparse hair... ORPHA:3103
Full Nf2-Related Schwannomatosis
Blindness, Amblyopia, Retinal hamartoma, Visual loss, Diplopia, Reduced visual acuity ORPHA:637
Mandibuloacral Dysplasia
Sparse hair, Alopecia, Hypoplastic fingernail ORPHA:2457
Webb-Dattani Syndrome
Cryptorchidism, Blindness OMIM:615926
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Abnormality of hair texture, Otitis media, Chronic rhinitis,... ORPHA:667
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Diamond-Blackfan Anemia 1
Epicanthus, Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Atrial septa... OMIM:105650
Microcephaly 20, Primary, Autosomal Recessive
Blindness OMIM:617914
Mccune-Albright Syndrome
Blindness OMIM:174800
Singleton-Merten Syndrome 1
Myopia, Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcific... OMIM:182250
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Reduced visu... ORPHA:85436
Leptospirosis
Pericarditis, Skin rash, First degree atrioventricular block, Conjunctival hyperemia, Retinal hem... ORPHA:509
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Wolff-Parkinson-White syndrome, Macroglossia, Mitral valve prolapse ORPHA:369950
Lipodystrophy, Congenital Generalized, Type 1
Cardiomyopathy, Acute pancreatitis, Hirsutism, Decreased fertility in females OMIM:608594
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland OMIM:614402
Hydranencephaly
Abnormality of vision, Dilatation of the ventricular cavity, Blindness, Antenatal intracerebral h... ORPHA:2177
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Epicanthus, Constriction of peripheral visual field, Ventricular septal defect, Nyctalopia, Prima... OMIM:619418
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Bilateral microphthalmos, Developmental cataract, Retinal calcification, Congenital ... ORPHA:93325
Cystinosis, Nephropathic
Male infertility, Hypopigmentation of hair, Blindness, Reduced visual acuity, Photophobia, Male h... OMIM:219800
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Epicanthus, Parakeratosis, Biliary hyperplasia, Cryptorchidism, Contracture of the distal interph... ORPHA:83617
Digeorge Syndrome
Parathyroid agenesis, Ventricular septal defect, Sclerocornea, Tetralogy of Fallot, Parathyroid h... OMIM:188400
White Sponge Nevus 2
Hyperparakeratosis OMIM:615785
Tay-Sachs Disease
Blindness, Visual impairment, Aspiration pneumonia ORPHA:845
Vascular Ehlers-Danlos Syndrome
Keratoconus, Telecanthus, Hypoplastic lacrimal duct, Epicanthus, Alopecia, Abnormal heart valve m... ORPHA:286
Joubert Syndrome 6
Blindness OMIM:610688
Igg4-Related Kidney Disease
Pericarditis, Inflammatory abnormality of the skin, Dacryocystitis, Lymphadenitis, Urinary bladde... ORPHA:449395
Familial Glucocorticoid Deficiency
Cryptorchidism, Testicular adrenal rest tumor, Azoospermia, Hypotension, Leydig cell neoplasia, H... ORPHA:361
Joubert Syndrome 2
Microphthalmia, Optic disc coloboma, Retinal dystrophy, Chorioretinal coloboma OMIM:608091
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Abnormal pupil morphology, Flexion contracture, Microcornea, Iris coloboma... ORPHA:261552
Restrictive Dermopathy 1
Atrial septal defect, Entropion, Sparse eyelashes, Short nail, Limb joint contracture, Epidermal ... OMIM:275210
Microphthalmia, Syndromic 1
Anophthalmia, Bicuspid aortic valve, Cryptorchidism, Optic disc coloboma, Microcornea, Ciliary bo... OMIM:309800
Microcephaly-Micromelia Syndrome
Microphthalmia, Short palpebral fissure OMIM:251230
Argininosuccinic Aciduria
Failure to thrive, Dry hair, Brittle hair, Trichorrhexis nodosa OMIM:207900
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, High-output congestive... OMIM:187300
Choreoacanthocytosis
Peroneal muscle atrophy, Dilated cardiomyopathy, Weight loss, Blepharospasm, Myopathy, Distal amy... ORPHA:2388
Arima Syndrome
Hypertension, Blindness, Ptosis OMIM:243910
Distal Deletion 12Q
Telecanthus, Failure to thrive in infancy, Patent ductus arteriosus, Elbow flexion contracture, O... ORPHA:96149
Cancer-Associated Retinopathy
Constriction of peripheral visual field, Photopsia, Testicular neoplasm, Visual loss, Central sco... ORPHA:71505
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Oligozoospermia, Nail dysplasia, Small nail, Sparse hair, Breast hypoplasia OMIM:614813
Gm2-Gangliosidosis, Ab Variant
Blindness OMIM:272750
Hydrolethalus
Microphthalmia, Cryptorchidism, Anophthalmia ORPHA:2189
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma... ORPHA:79501
Lipodystrophy, Congenital Generalized, Type 2
Acute pancreatitis, Decreased fertility in females, Decreased fertility, Ventricular septal hyper... OMIM:269700
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Exercise-induced rhabdomyolysis, Parakeratosis ORPHA:284426
Melnick-Needles Syndrome
Mitral valve prolapse, Coarse hair, Stillbirth, Tricuspid valve prolapse, Pulmonary arterial hype... OMIM:309350
Yunis-Varon Syndrome
Sparse scalp hair, Epicanthus, Cataract, Sparse eyelashes, Absent nipple, Sclerocornea, Ventricul... OMIM:216340
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Hypoplasia of eyelid, Nyctalopia, Hypoplasia of the ovary, Decreased testicular size OMIM:619321
Intellectual Developmental Disorder, Autosomal Dominant 54
Sparse hair, Eczema, Thin nail, Visual impairment OMIM:617799
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Abnormal heart morphology, Blepharophimosis, Microphthalmia, Annular pancreas OMIM:227646
Mandibuloacral Dysplasia Progeroid Syndrome
Mitral valve calcification, Tricuspid regurgitation, Sparse eyebrow, Mitral regurgitation, Sparse... OMIM:619127
Menkes Disease
Gastrointestinal hemorrhage, Hypopigmentation of hair, Osteomyelitis, Intracranial hemorrhage, Sp... ORPHA:565
Subacute Cutaneous Lupus Erythematosus
Hyperkeratosis, Vasculitis in the skin ORPHA:163525
Lysinuric Protein Intolerance
Sparse hair, Fine hair, Pancreatitis, Pulmonary hemorrhage OMIM:222700
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hypertrophic cardiomyopathy, Ptosis ORPHA:436271
Trichorhinophalangeal Syndrome, Type Ii
Sparse scalp hair, Myopia, Ptosis, Bicuspid aortic valve, Chronic gastritis, Myocardial infarctio... OMIM:150230
Meckel Syndrome 14
Microphthalmia, Mitral regurgitation, Tricuspid regurgitation, Single ventricle OMIM:619879
Matthew-Wood Syndrome
Anophthalmia, Congenital diaphragmatic hernia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas... ORPHA:2470
Tetraamelia Syndrome 1
Microphthalmia, Adrenal gland agenesis, Cataract, Congenital diaphragmatic hernia OMIM:273395
Asparagine Synthetase Deficiency
Blindness, Cerebral visual impairment OMIM:615574
Hyper-Igd Syndrome
Skin rash, Lymphadenitis, Nyctalopia, Arthritis, Chronic oral candidiasis, Serositis OMIM:260920
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Small nail, Decreased te... OMIM:610644
Peeling Skin Syndrome 6
Orthokeratosis, Parakeratosis OMIM:618084
Beckwith-Wiedemann Syndrome
Macroglossia, Cardiomyopathy, Diastasis recti, Cardiomegaly OMIM:130650
Orofaciodigital Syndrome Type 3
Abnormality of hair texture ORPHA:2752
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Congestive heart failure OMIM:617156
Lowry-Wood Syndrome
Nyctalopia, Peripheral visual field loss OMIM:226960
Senior-Loken Syndrome 3
Visual loss, Congenital blindness OMIM:606995
Familial Benign Chronic Pemphigus
Hyperkeratosis, Acantholysis ORPHA:2841
Legius Syndrome
Paroxysmal atrial tachycardia, Pulmonic stenosis, Mitral valve prolapse ORPHA:137605
17Q11 Microdeletion Syndrome
Blindness, Telangiectasia of the skin, Renovascular hypertension, Abnormal heart morphology, Hype... ORPHA:97685
Hawkinsinuria
Sparse hair OMIM:140350
Leprechaunism
Facial hypertrichosis, Skeletal muscle atrophy, Enlarged ovaries, Thickened skin, Hyperkeratosis,... ORPHA:508
Combined Oxidative Phosphorylation Deficiency 37
Hypertrophic cardiomyopathy, Visual impairment OMIM:618329
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypertension, Hypertrophic cardiomyopathy, Arrhythmia, Cryptorchidism OMIM:614052
Retinoblastoma
Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma, Pinealoma OMIM:180200
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Epicanthus, Ectopic posterior pituitary, Ventricular septal defect, ... ORPHA:508488
Osteogenesis Imperfecta
Abnormal endocardium morphology, Aortic regurgitation, Corneal opacity, Cerebral hemorrhage, Flex... ORPHA:666
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Myopia, Cerebral visual impairment, Hypermetropia, Abnormal heart morphology, Upslanted palpebral... ORPHA:369837
Fraser Syndrome 2
Microphthalmia, Hypoplasia of the thymus, Low anterior hairline, Cryptophthalmos OMIM:617666
Enhanced S-Cone Syndrome
Hemeralopia, Nyctalopia OMIM:268100
Microphthalmia With Limb Anomalies
Abnormal eyebrow morphology, Cryptorchidism, Optic atrophy, Camptodactyly of 2nd-5th fingers, Ble... ORPHA:1106
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hypertrophic cardiomyopathy, Ptosis OMIM:220110
Pachyonychia Congenita 3
Plantar hyperkeratosis, Onychogryposis of toenails, Palmoplantar keratoderma, Nail dystrophy, Fol... OMIM:615726
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Bundle branch block, Ventricular septal defect, Camptodactyly of finger, C... ORPHA:373
Retinitis Pigmentosa And Erythrocytic Microcytosis
Myopia, Nyctalopia, Ring scotoma OMIM:616959
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent skin infections, Recurrent pneumonia, Cheilitis, Nail dystrophy, Sparse ha... ORPHA:158668
Autosomal Dominant Optic Atrophy And Cataract
Blindness, Red-green dyschromatopsia, Central scotoma, Reduced visual acuity, Tritanomaly, Visual... ORPHA:67036
6Q Terminal Deletion Syndrome
Hyperkeratosis, Short palpebral fissure, Low anterior hairline, Highly arched eyebrow ORPHA:75857
Xq21 Microdeletion Syndrome
Reduced visual acuity, Peripheral visual field loss, Hypertension, Progressive night blindness, V... ORPHA:1435
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis OMIM:610227
Rothmund-Thomson Syndrome Type 2
Alopecia totalis, Cryptorchidism, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Aplasi... ORPHA:221016
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic disc pallor, Multiple joint contractures, Optic nerve hypoplasia, Ankle flexion contracture... ORPHA:468631
Psoriasis 14, Pustular
Parakeratosis, Nail dystrophy OMIM:614204
Wilson Disease
Hypoparathyroidism, Kayser-Fleischer ring, Limb muscle weakness OMIM:277900
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia, Cryptorchidism, Congenital hypoparathyroidism, Decreased response to growth hormo... OMIM:241410
Fanconi Anemia, Complementation Group F
Microphthalmia, Cryptorchidism, Atrial septal defect, Decreased response to growth hormone stimul... OMIM:603467
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Telecanthus, Cataract, Bicuspid aortic valve, Abnormal pulmonary valve morphology, Cryptorchidism... ORPHA:261537
Infantile Nephropathic Cystinosis
Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals ORPHA:411629
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Optic nerve dysplasia, Retinal dysplasia, Opacification of the corneal stroma, Muscular dystrophy... OMIM:615287
Pallister-Hall Syndrome
Thyroid dysgenesis, Ventricular septal defect, Decreased response to growth hormone stimulation t... OMIM:146510
Dysosteosclerosis
Blindness OMIM:224300
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Cerebral hemorrhage, Cryptorchidism, Nail dysplasia, Sparse hair OMIM:616682
Fanconi Anemia, Complementation Group E
Microphthalmia, Cryptorchidism, Abnormal heart morphology OMIM:600901
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Cryptorchidism, Corneal scarring, Developmental cataract, Microphthalmia... OMIM:309000
Spinocerebellar Ataxia 34
Epidermal hyperkeratosis OMIM:133190
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Sparse eyebrow, Cryptorchidism, Microphthalmia OMIM:616300
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Pericardial effusion, Hematemesis, Vasculit... OMIM:615846
Fanconi Anemia, Complementation Group A
Microphthalmia, Cryptorchidism, Abnormal heart morphology OMIM:227650
Isolated Arrhinia
Microphthalmia, Eyelid coloboma ORPHA:1134
Ablepharon-Macrostomia Syndrome
Absent eyebrow, Ablepharon, Hypoplasia of eyelid, Absent eyelashes, Hypoplastic nipples, Sparse h... OMIM:200110
Meckel Syndrome, Type 5
Microphthalmia, Bile duct proliferation OMIM:611561
Microcephaly 13, Primary, Autosomal Recessive
Restrictive cardiomyopathy OMIM:616051
Hereditary Spherocytosis
Restrictive cardiomyopathy, Maculopapular exanthema, Gout ORPHA:822
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Hyperkeratosis, Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma OMIM:620189
Fraser Syndrome
Blindness, Abnormal hair pattern, Cryptorchidism, Lacrimal duct aplasia, Malformed lacrimal duct,... ORPHA:2052
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Sparse hair OMIM:615349
Ectodermal Dysplasia And Immunodeficiency 1
Sparse hair, Aplasia of the eccrine sweat glands OMIM:300291
Saul-Wilson Syndrome
Nyctalopia OMIM:618150
Mowat-Wilson Syndrome
Telecanthus, Cataract, Bicuspid aortic valve, Cryptorchidism, Flexion contracture, Abnormal heart... ORPHA:2152
Lenz-Majewski Hyperostotic Dwarfism
Sparse hair, Cryptorchidism, Chordee, Lacrimal duct stenosis OMIM:151050
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cryptorchidism, Abnormal cardiac septum morphology, Microphthalmia, Cyclopia, Thyroid hypoplasia ORPHA:2166
Familial Keratoacanthoma
Hyperkeratosis, Adenoma sebaceum ORPHA:493
Dpagt1-Cdg
Intracranial hemorrhage, Nyctalopia, Prolonged QT interval, Hypertrichosis ORPHA:86309
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis ORPHA:64745
Pearson Syndrome
Cardiomyopathy, Cardiac conduction abnormality, Abnormal heart morphology ORPHA:699
Meckel Syndrome, Type 2
Microphthalmia, Bile duct proliferation OMIM:603194
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Complete atrioventricular canal defect, Low posterior hairline, Microphthalmi... OMIM:617925
Liver Disease, Severe Congenital
Chronic gastritis, Dry hair, Epicanthus, Ventricular septal defect, Left atrial enlargement, Ecze... OMIM:619991
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hyperkeratosis OMIM:612852
Maternal Uniparental Disomy Of Chromosome 4
Nyctalopia, Visual field defect ORPHA:96180
Coffin-Lowry Syndrome
Telecanthus, Highly arched eyebrow, Hyperconvex fingernails, Mitral regurgitation, Coarse hair, D... OMIM:303600
Glycogen Storage Disease Due To Acid Maltase Deficiency
Transient ischemic attack, Cardiomegaly, Vasculitis, Shortened PR interval, Left ventricular outf... ORPHA:365
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Epicanthus, Eczema, Sparse hair, Frontal hirsutism, Short palpebral fissure, Ptosis OMIM:617157
Wrinkly Skin Syndrome
Epicanthus, Short nail, Cryptorchidism, Muscular ventricular septal defect, Sparse hair, Atrial s... OMIM:278250
Joubert Syndrome 5
Congenital blindness, Reduced visual acuity, Ptosis OMIM:610188
Fanconi Anemia, Complementation Group L
Upslanted palpebral fissure, Microphthalmia OMIM:614083
Spondylometaphyseal Dysplasia, Sedaghatian Type
Atrial septal defect, Myocarditis, Arrhythmia OMIM:250220
Craniofacial Microsomia 1
Anophthalmia, Ventricular septal defect, Hypoplasia of facial musculature, Blepharophimosis, Uppe... OMIM:164210
Wrinkly Skin Syndrome
Epicanthus, Cryptorchidism, High myopia, Sparse hair, Atrial septal dilatation, Downslanted palpe... ORPHA:2834
Aicardi-Goutières Syndrome
Myositis, Chilblains, Cardiomegaly, Raynaud phenomenon, Arthritis, Eyelid coloboma, Panniculitis,... ORPHA:51
Microgastria-Limb Reduction Defect Syndrome
Congenital muscular torticollis, Anophthalmia, Atrial septal defect, Microphthalmia, Truncus arte... ORPHA:2538
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Onycholysis, Nail dystrophy OMIM:614748
Pallister-Hall Syndrome
Thyroid hypoplasia, Ventricular septal defect, Cryptorchidism, Adrenocorticotropic hormone defici... ORPHA:672
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Hypertension, Atrial septal defect, Hypertrophic cardiomyopathy, Ventr... OMIM:270400
Simpson-Golabi-Behmel Syndrome, Type 1
Facial hypotonia, Ventricular septal defect, Congenital diaphragmatic hernia, Diastasis recti, Ca... OMIM:312870
Parkes Weber Syndrome
Bounding pulse, High-output congestive heart failure, Subarachnoid hemorrhage ORPHA:90307
Ectodermal Dysplasia And Immunodeficiency 2
Sparse hair, Aplasia of the sweat glands, Sparse scalp hair OMIM:612132
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Mycetoma
Cobblestone-like hyperkeratosis ORPHA:2583
Lipodystrophy, Familial Partial, Type 7
Sparse scalp hair, Orthostatic hypotension, Hypertension, Recurrent pancreatitis, Sparse hair, Pu... OMIM:606721
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Alopecia, Cryptorchidism, Loss of eyelashes, Thin eyebrow, Sparse hair, Downslanted palpebral fis... ORPHA:2636
Mitochondrial Complex I Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy OMIM:618222
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
White hair, Fine hair ORPHA:935
Occipital Horn Syndrome
Orthostatic hypotension, Coarse hair, Pili torti OMIM:304150
Pallister-Killian Syndrome
Sparse scalp hair, Alopecia, Myopia, Ventricular septal defect, Sparse eyelashes, Supernumerary n... OMIM:601803
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Bicuspid aortic valve, Mitral atresia, Highly arched eyebrow, Aortic valve atresia, Low anterior ... OMIM:220111
Secondary Intestinal Lymphangiectasia
Constrictive pericarditis, Intestinal bleeding, Right ventricular failure ORPHA:90363
Occipital Horn Syndrome
Thick hair, Hepatitis, Coarse hair, Esophagitis, Downslanted palpebral fissures ORPHA:198
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Epicanthus, Sinusitis, Ventricular septal defect, Abnormal heart morphology, Mitral valve prolaps... ORPHA:363700
Meige Disease
Cobblestone-like hyperkeratosis ORPHA:90186
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Epicanthus, Ventricular septal defect, Frontal hirsutism, Blepharophimosis, Cryptorchidism, Hypop... ORPHA:96334
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy OMIM:613673
Holoprosencephaly 9
Anophthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi... OMIM:610829
Lymphatic Filariasis
Orchitis, Hyperkeratosis, Vaginal hydrocele, Hydrocele testis ORPHA:2035
Primrose Syndrome
Sparse scalp hair, Epicanthus, Hypergonadotropic hypogonadism, Absent facial hair, Bilateral cryp... OMIM:259050
Castleman Disease
Restrictive cardiomyopathy ORPHA:160
Pmm2-Cdg
Myopia, Pericarditis, Epicanthus, Angina pectoris, Hypogonadotropic hypogonadism, Pericardial eff... ORPHA:79318
Holoprosencephaly 1
Microphthalmia, Cyclopia, Single ventricle OMIM:236100
Tyrosinemia, Type I
Melena, Hypertrophic cardiomyopathy, Gastrointestinal hemorrhage OMIM:276700
Hydrolethalus Syndrome 1
Ventricular septal defect, Complete atrioventricular canal defect, Adrenal gland dysgenesis, Micr... OMIM:236680
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Telangiectasia of the skin, Hyperparakeratosis, Ovarian serous cystadenoma ORPHA:276280

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 Ppp1r13l

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 Ppp1r13l.

No publications found that use IMPC mice or data for Ppp1r13l.

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.

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