Gene Summary

S100 calcium binding protein A1
S100a,  S100

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
small testis S100a1em1(IMPC)Mbp HOM Early adult 0.00
enlarged testis S100a1em1(IMPC)Mbp HOM Early adult 0.00
abnormal testis morphology S100a1em1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology S100a1em1(IMPC)Mbp HOM Early adult 0.00
cataract S100a1em1(IMPC)Mbp HOM Early adult 4.69×10-05
abnormal vitreous body morphology S100a1em1(IMPC)Mbp HOM Early adult 1.33×10-05
anophthalmia S100a1em1(IMPC)Mbp HOM Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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


XRay Images Whole Body Dorso Ventral

48 Images


XRay Images Whole Body Lateral Orientation

16 Images

Human diseases caused by S100a1 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 S100a1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Panic Disorder 1
Anxiety OMIM:167870
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Intellectual Developmental Disorder, Autosomal Recessive 59
Aggressive behavior OMIM:617323
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular hypertrophy, Pulmonary aterial intimal fibrosis... OMIM:178600
Obsessive-Compulsive Disorder
Depression, Anxiety, Skin-picking OMIM:164230
Cardiomyopathy, Familial Hypertrophic, 15
Myofiber disarray, Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruction... OMIM:613255
Intellectual Developmental Disorder, Autosomal Recessive 52
Aggressive behavior OMIM:616887
Semantic Dementia
Abulia, Dementia ORPHA:100069
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Depression, Deficit in phonologic short-term memory, Anxiety, Emotional lab... ORPHA:280397
Intellectual Developmental Disorder, X-Linked 63
Anxiety OMIM:300387
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Right ventricular hypertrophy, Palpitations, Elevated pulmonary artery p... ORPHA:275766
Persistent Idiopathic Facial Pain
Depression, Anxiety ORPHA:398147
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... OMIM:615396
Atrial Septal Defect, Coronary Sinus Type
Supraventricular arrhythmia, Unroofed coronary sinus, Anomalous pulmonary venous return, Systolic... ORPHA:99104
Microcephaly 9, Primary, Autosomal Recessive
Impulsivity, Aggressive behavior OMIM:614852
Pulmonary Hypertension, Primary, 4
Elevated pulmonary artery pressure, Pulmonary arterial hypertension with lack of acute response t... OMIM:615344
Pulmonary Hypertension, Primary, 3
Dyspnea, Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Increased pulmonary... OMIM:615343
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Abnormal mitral valve morphology, Airway obstruction, Systolic heart... ORPHA:99103
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Interlobular septal thickening, Pulmonary venous occlusion, Pulmonary arterial hypertension, Abno... OMIM:265450
Pulmonary Hypertension, Primary, 2
Pulmonary arterial hypertension, Abnormally loud pulmonic component of the second heart sound, In... OMIM:615342
Geniospasm 1
Anxiety OMIM:190100
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Decreased DLCO, Cough, Dyspnea, Pulmonary arterial hypertension, Pulm... OMIM:234810
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Interstitial Lung Disease 2
Alveolar cell carcinoma, Usual interstitial pneumonia, Decreased DLCO, Cough, Exertional dyspnea,... OMIM:178500
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract OMIM:274205
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Tricuspid regurgitation, Palpitations, Syncope, Heart murmur, Abnormal cardiovascul... ORPHA:422
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Dilated cardiomyopathy OMIM:618189
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chylopericardium, Hepatomegaly, Chronic pulmonary obstruction, Tricuspid re... ORPHA:2414
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Epilepsy, Nocturnal Frontal Lobe, 5
Depression, Personality disorder, Aggressive behavior, Cognitive impairment OMIM:615005
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Pulmonary Hypertension, Primary, 5
Angina pectoris, Right ventricular hypertrophy, Right ventricular failure, Syncope, Exertional dy... OMIM:265400
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Reduced FEV1/FVC ratio, Abnormal left ventricular function, Abnormal T-wave, Reduc... ORPHA:70591
Brunner Syndrome
Self-injurious behavior, Impulsivity, Aggressive behavior, Low frustration tolerance OMIM:300615
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Airway obstruction, Anomalous pulmonary venous return, Atrial arrhyt... ORPHA:99105
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Hypoxemia, Respiratory failure, Oxygen desaturation on exertion, Interlobular septa... ORPHA:60025
Epilepsy, Nocturnal Frontal Lobe, 2
Depression, Aggressive behavior OMIM:603204
Microphthalmia, Isolated, With Coloboma 10
Iris coloboma, Microcoria, Anophthalmia, Microphthalmia OMIM:616428
Familial Dilated Cardiomyopathy
Left bundle branch block, Mitral regurgitation, Palpitations, Left ventricular hypertrophy, Eleva... ORPHA:217607
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Multiple Mitochondrial Dysfunctions Syndrome 1
Hypertension, Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure OMIM:605711
Chorea, Benign Hereditary
Anxiety OMIM:118700
Coronary Arterial Fistula
Angina pectoris, Systolic heart murmur, Cardiomegaly, Abnormal heart morphology, Palpitations, Ta... ORPHA:2041
Heparin-Induced Thrombocytopenia
Myocardial infarction, Pulmonary embolism, Cerebral ischemia ORPHA:3325
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism ORPHA:3000
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Combined Oxidative Phosphorylation Deficiency 22
Pulmonary arterial hypertension, Congestive heart failure OMIM:616045
Microphthalmia, Syndromic 12
Cryptorchidism, Anophthalmia, Bicornuate uterus, Microphthalmia OMIM:615524
Frontotemporal Dementia
Apathy, Inappropriate sexual behavior, Frontotemporal dementia, Frontal lobe dementia, Disinhibit... OMIM:600274
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Allergic Bronchopulmonary Aspergillosis
Asthma, Respiratory insufficiency, Cough, Emphysema, Bronchiectasis, Pulmonary arterial hypertension ORPHA:1164
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hypoxemia, Splenomegal... OMIM:612387
Eisenmenger Syndrome
Respiratory distress, Angina pectoris, Supraventricular arrhythmia, Hepatomegaly, Atrioventricula... ORPHA:97214
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Macroorchidism OMIM:264120
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Pulmonary embolism ORPHA:82
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Left atrial enlargement, Reduced left ventricular ejection fraction, R... ORPHA:563
Microphthalmia, Isolated, With Coloboma 5
Iris coloboma, Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... OMIM:619371
Total Anomalous Pulmonary Venous Return 1
Dextrocardia, Pulmonary arterial hypertension, Total anomalous pulmonary venous return, Recurrent... OMIM:106700
Creutzfeldt-Jakob Disease
Apathy, Depression, Anxiety, Memory impairment, Irritability, Dementia OMIM:123400
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal respiratory distress, Pulmonary arterial hypertension, Pulmonary hypoplasia, Cardiomyopathy OMIM:619003
Pick Disease Of Brain
Apathy, Frontotemporal dementia, Emotional blunting, Disinhibition, Inappropriate laughter, Dimin... OMIM:172700
Atrial Septal Defect, Ostium Primum Type
Airway obstruction, Systolic heart murmur, Left atrial enlargement, Right bundle branch block, At... ORPHA:99106
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension OMIM:152900
Limited Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Pulmonary arterial hypertension, Mucosal telangiectasiae, Pulmonary f... ORPHA:220402
Spastic Paraparesis And Deafness
Cataract, Hypogonadism OMIM:312910
Pulmonary Arteriovenous Malformation
Telangiectasia, Bacterial endocarditis, Hemothorax, Pleural empyema, Cyanosis, Pulmonary hemorrha... ORPHA:2038
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus, Hypertension, Pulmonary ar... OMIM:613355
Basal Ganglia Calcification, Idiopathic, 5
Apathy, Cognitive impairment, Depression, Anxiety, Dementia OMIM:615483
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... OMIM:610913
Childhood-Onset Benign Chorea With Striatal Involvement
Anxiety ORPHA:494541
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... OMIM:614840
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Right ventricular hypertrophy, Interstitial pneumonitis, Intraalveolar phospholipid accumulation,... ORPHA:217563
Microphthalmia, Syndromic 5
Micropenis, Optic nerve hypoplasia, Anophthalmia, Microcornea, Ectopic posterior pituitary, Catar... OMIM:610125
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... ORPHA:1329
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
External genital hypoplasia, Retinal coloboma, Cataract, Microphthalmia, Cryptorchidism, Hypogona... ORPHA:363741
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Meconium Aspiration Syndrome
Respiratory distress, Hypoxemia, Aspiration pneumonia, Pulmonary insufficiency, Wheezing, Pneumot... ORPHA:70588
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Right atrial enlargement, Tricuspid regur... ORPHA:99095
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Apathy, Anxiety, Inappropriate behavior, Memory impairment, Motor deterioration, Inertia, Frontot... ORPHA:412066
Atrial Septal Defect 9
Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect OMIM:614475
Stuve-Wiedemann Syndrome 2
Respiratory distress, Pulmonary arterial hypertension, Congestive heart failure OMIM:619751
Myoclonus-Dystonia Syndrome
Depression, Personality disorder, Anxiety, Panic attack ORPHA:36899
Coenzyme Q10 Deficiency, Primary, 2
Mitral regurgitation, Aortic regurgitation, Pulmonary arterial hypertension OMIM:614651
Partington Syndrome
Macroorchidism ORPHA:94083
Surfactant Metabolism Dysfunction, Pulmonary, 1
Interlobular septal thickening, Apnea, Desquamative interstitial pneumonitis, Cyanosis, Intraalve... OMIM:265120
Dystonia 11, Myoclonic
Depression, Agoraphobia, Anxiety OMIM:159900
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Delayed menarche, Hy... ORPHA:52901
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Elevated pulmonary artery pressure OMIM:178400
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Anxiety, Self-injurious behavior, Aggressive behavior OMIM:619031
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Retinal coloboma, Cataract, Microphthalmia, Cryptorchidism, Hypogonadism OMIM:601794
Microphthalmia With Brain And Digit Anomalies
Abnormality of the hypothalamus-pituitary axis, Anophthalmia, Microcornea, Iris coloboma, Catarac... ORPHA:139471
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Pulmonary Capillary Hemangiomatosis
Interlobular septal thickening, Pulmonary edema, Hypoxemia, Hemothorax, Cyanosis, Right ventricul... ORPHA:199241
Takayasu Arteritis
Hypertrophic cardiomyopathy, Abnormal aortic valve morphology, Vasculitis, Cerebral ischemia, Myo... ORPHA:3287
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Atrioventricular Septal Defect 3
Inlet ventricular septal defect, Primum atrial septal defect, Atrioventricular canal defect, Cyan... OMIM:600309
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Pulmonary arterial hypertension, Atrial septal defect, Tetralogy of Fallot OMIM:300887
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Microphthalmia, Isolated 3
Anophthalmia, Sclerocornea, Microphthalmia OMIM:611038
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... ORPHA:1646
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Cognitive impairment, Depression, Anxiety, Inappropriate behavior, Memory impairment ORPHA:401901
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Huntington Disease-Like 2
Apathy, Depression, Anxiety, Irritability, Dementia OMIM:606438
Microphthalmia, Isolated 4
Absent testis, Microphthalmia OMIM:613094
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Tricuspid regurgitation, Mitral regurgitation, Sudden cardiac death, Left ... OMIM:613426
Macroorchidism, Long penis ORPHA:2477
Childhood Disintegrative Disorder
Social and occupational deterioration, Progressive language deterioration, Abnormal emotion/affec... ORPHA:168782
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Hypotension, Heart murmur, Pulmonary arterial hypert... ORPHA:95459
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Micropenis OMIM:610156
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Arrhythmia, Abnormal heart valve morphology, Hypertension, Hypertrophic cardi... ORPHA:1345
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Systolic heart murmur, Reduced left ventricular ejection frac... ORPHA:980
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Left ventricular outflow tract obstruction, Left-to... ORPHA:99050
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Oculocerebrocutaneous Syndrome
Cryptorchidism, Anophthalmia, Microphthalmia OMIM:164180
Spastic Paraparesis-Deafness Syndrome
Cataract, Hypogonadism ORPHA:2815
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Hepatomegaly, Cardiomegaly OMIM:619064
Huntington Disease-Like 1
Depression, Anxiety, Aggressive behavior, Dementia OMIM:603218
Fixed Subaortic Stenosis
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... ORPHA:3092
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Ventricular septal defect, Pulmonary hypoplasia, Pneumonia... ORPHA:95430
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Hypertension, Pulmonary arterial hypertension, Patent ductus arteriosus, Right ventricular hypert... OMIM:613623
Hughes-Stovin Syndrome
Pulmonary artery aneurysm, Pulmonary embolism, Vasculitis, Cough, Cardiorespiratory arrest, Dyspn... ORPHA:228116
Antisynthetase Syndrome
Telangiectasia of the skin, Respiratory insufficiency, Myocarditis, Cough, Abnormal pulmonary int... ORPHA:81
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Tricuspid regurgitation, Hypertrophic cardiomyopathy, Ventricular hypertrophy, Pulmonary arterial... OMIM:619051
Microphthalmia, Isolated 8
Retinal coloboma, Optic nerve hypoplasia, Retinal detachment, Anophthalmia, True anophthalmia, Mi... OMIM:615113
Scimitar Syndrome
Respiratory distress, Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous retu... ORPHA:185
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Epilepsy, Progressive Myoclonic, 12
Depression, Anxiety, Mental deterioration OMIM:619191
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Pulmonar... OMIM:608406
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Cataract, Decreased testicular size, Hypogonadism ORPHA:1875
Cirrhotic Cardiomyopathy
Right atrial enlargement, Hepatomegaly, Pulmonary edema, Third heart sound, Left ventricular dias... ORPHA:57777
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Patent ... ORPHA:1457
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract, Microphthalmia OMIM:604219
Hypogonadism-Cataract Syndrome
Infertility, Cataract, Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating... OMIM:240950
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:612336
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract, Microphthalmia OMIM:610092
Non-Functioning Pituitary Adenoma
Impotence, Decreased fertility in males, Central adrenal insufficiency, Erectile dysfunction, Hyp... ORPHA:91349
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microphthalmia, Microcornea, Hypogonadism ORPHA:2528
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Yellow Nail Syndrome
Sinusitis, Rhinitis, Neoplasm of the lung, Cough, Pleuritis, Bronchiectasis, Dyspnea, Pulmonary a... ORPHA:662
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Pulmonary venous hypertension, Abnormal left ventricular function, R... ORPHA:75249
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Hypospadias, Aplasia/Hypoplasia of the lens, Cataract, Cryptorchidism ORPHA:1381
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Hypospadias, Anophthalmia, Iris coloboma, Microphthalmia, Cryptorchidism, Sc... ORPHA:77298
Keutel Syndrome
Recurrent sinusitis, Ventricular septal defect, Pulmonary artery stenosis, Pulmonary arterial hyp... ORPHA:85202
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Gaucher Disease, Type I
Aortic valve stenosis, Hepatomegaly, Splenomegaly, Mitral regurgitation, Abnormal pulmonary inter... OMIM:230800
Parkinson Disease 6, Autosomal Recessive Early-Onset
Depression, Anxiety, Dementia OMIM:605909
46,Xx Testicular Disorder Of Sex Development
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size ORPHA:393
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Bronchopulmonary Dysplasia
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Right ventricular hypertrophy, Right ... ORPHA:70589
Functioning Gonadotropic Adenoma
Impotence, Ovarian cyst, Central diabetes insipidus, Enlarged polycystic ovaries, Pituitary gonad... ORPHA:91348
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Elevated circulating growth hormone concentration, Decreased serum insulin-like growth factor 1, ... ORPHA:85327
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Microcornea, Iris coloboma, Microp... ORPHA:231736
Trisomy 13
Anophthalmia, Abnormal morphology of female internal genitalia, Optic atrophy, Iris coloboma, Cat... ORPHA:3378
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Juvenile cataract, Male hypogonadism, Macroorchidism OMIM:300055
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Left ventricular hypertrophy, Ventricular septal defect, Biventricular hypertrophy, Patent forame... OMIM:615474
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Microphthalmia OMIM:221950
Walker-Warburg Syndrome
Corneal opacity, Hypoplasia of penis, Retinal detachment, Anophthalmia, Microcornea, Optic atroph... ORPHA:899
Morm Syndrome
Cataract, Retinal atrophy, Micropenis ORPHA:75858
47,Xyy Syndrome
Increased serum testosterone level, Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Varico... ORPHA:8
Increased serum serotonin, Abnormality of the endocrine system, Increased serum testosterone leve... ORPHA:180229
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pulmonary arterial hypertension OMIM:619059
Braddock Syndrome
Neonatal respiratory distress, Pulmonary arterial hypertension, Pulmonary fibrosis ORPHA:52047
Diffuse Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Hypertensive crisis, Dyspnea, Pulmonary arterial hypertension, Pulmon... ORPHA:220393
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension, Cardiomegaly, Tachypnea OMIM:613320
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Lens subluxation, Mosaic corneal dystrophy, Retinal detachment, Megalocornea, Astigmatism, Iridod... OMIM:309300
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Precocious Puberty, Male-Limited
Precocious puberty in males, Decreased testicular size OMIM:176410
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Microcornea, Optic atrophy, Optic disc pallor, Cataract, Macular atrophy OMIM:616171
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Sleep apnea, Pulmonary arterial hypertension, Congestive heart failure, Central apnea OMIM:616482
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Recurrent upper respiratory tract infections, Pulmonary arterial hypertension, Abnormal heart mor... ORPHA:391372
Hereditary Hemorrhagic Telangiectasia
Telangiectasia of the skin, Mucosal telangiectasiae, Cerebral hemorrhage, Retinal telangiectasia,... ORPHA:774
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... OMIM:617319
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia, Retinal detachment, Iris coloboma, Cataract, Macular atrophy OMIM:212550
Fragile X Syndrome
Macroorchidism ORPHA:908
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Iris coloboma, Unilateral microphthalmos, Macroorchidism OMIM:618874
Catastrophic Antiphospholipid Syndrome
Angina pectoris, Abnormal heart valve physiology, Pulmonary embolism, Myocarditis, Myocardial inf... ORPHA:464343
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cryptorchidism, Cataract ORPHA:2489
Cataract 11, Multiple Types
Cataract, Microphthalmia OMIM:610623
Hurler-Scheie Syndrome
Hepatomegaly, Splenomegaly, Mitral regurgitation, Aortic regurgitation, Pulmonary arterial hypert... OMIM:607015
Adams-Oliver Syndrome 5
Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosis, Splenomegaly, Patent ... OMIM:616028
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Atkin-Flaitz Syndrome
Macroorchidism OMIM:300431
Erythrocytosis, Familial, 2
Pulmonary arterial hypertension, Cerebral hemorrhage, Hypotension OMIM:263400
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Intracranial hemorrhage, Ventricular septal defect, Second degree atrioventricular block, Ventric... ORPHA:369929
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Hypospadias, Ectopia pupillae, Anophthalmia, Microcornea, Cataract, Microphth... OMIM:615877
Telangiectasia, Hereditary Hemorrhagic, Type 2
Melena, Subarachnoid hemorrhage, Hematochezia, Lip telangiectasia, Facial telangiectasia, Fingerp... OMIM:600376
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment, Cataract OMIM:147610
Multisystemic Smooth Muscle Dysfunction Syndrome
Atrial septal defect, Tachypnea, Hypoperistalsis, Pulmonary artery dilatation, Patent ductus arte... OMIM:613834
Craniofaciofrontodigital Syndrome
Respiratory distress, Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect, Mitral ... ORPHA:363705
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Abnormality of the uterus, Mi... ORPHA:2470
Xp22.13P22.2 Duplication Syndrome
Polycystic ovaries, Macroorchidism ORPHA:284180
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, External genital hypoplasia, Anophthalmia, Iris coloboma, Cataract, Micropht... ORPHA:2250
Kagami-Ogata Syndrome
Hepatomegaly, Atrial septal defect, Splenomegaly, Pulmonic stenosis, Ventricular septal defect, P... OMIM:608149
Telangiectasia, Hereditary Hemorrhagic, Type 1
Melena, Telangiectasia of the skin, Hemothorax, Pulmonary hemorrhage, Subarachnoid hemorrhage, He... OMIM:187300
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Tachypnea OMIM:614857
Coats Disease
Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Cataract, Retinal detachment ORPHA:190
Martsolf Syndrome 2
Hypogonadotropic hypogonadism, Cataract, Developmental cataract OMIM:619420
Tetrasomy 5P
Respiratory distress, Cyanosis, Heart murmur, Pulmonary hypoplasia, Pulmonary arterial hypertensi... ORPHA:3309
Early-Onset Schizophrenia
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... ORPHA:96369
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Pulmonary valve atresia, Bicuspid aortic valve, Aortic valve stenosis, Atri... ORPHA:210122
Cardiogenic Shock
Abnormal left ventricular function, Increased pulmonary capillary wedge pressure, Low pulse press... ORPHA:97292
Cockayne Syndrome Type 2
Anophthalmia, Developmental cataract, Male hypogonadism, Cryptorchidism, Conjunctivitis ORPHA:90322
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Right ventricular outlet tract obstruction, Left ventricular hypertrophy, ... ORPHA:99094
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Cryptorchidism OMIM:616030
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, ... ORPHA:2519
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Retinal detachment, Posterior embryotoxon, Optic atrophy, Iris coloboma, Catarac... ORPHA:1473
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Primary amenorrhea, Absence of secondary sex characteristics, Sec... ORPHA:2410
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Apn... ORPHA:99125
Familial Thrombocytosis
Splenomegaly, Cerebral ischemia, Syncope, Transient ischemic attack, Pulmonary arterial hypertension ORPHA:71493
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Wagr Syndrome
Ambiguous genitalia, Cataract, Displacement of the urethral meatus, Cryptorchidism, Aplasia/Hypop... ORPHA:893
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Retinitis Pigmentosa
Type II diabetes mellitus, Hyperinsulinemia, Hypoplasia of penis, Abnormality of retinal pigmenta... ORPHA:791
Overlap Myositis
Raynaud phenomenon, Abnormal pulmonary interstitial morphology, Hypertension, Pulmonary arterial ... ORPHA:206572
Mixed Connective Tissue Disease
Hepatomegaly, Splenomegaly, Myocarditis, Abnormal pulmonary interstitial morphology, Pleuritis, G... ORPHA:809
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Decreased fertility ORPHA:481
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension, Bradycardia OMIM:619272
Abnormal fallopian tube morphology, Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:2189
Klippel-Trénaunay Syndrome
Hepatomegaly, Atrial septal defect, Respiratory insufficiency, Pulmonary embolism, Patent ductus ... ORPHA:90308
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Sleep apnea, Right ventricular hypertrophy, Respiratory insufficiency, Recu... ORPHA:98915
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Abnormality of retinal pigmentation, Hypergonadotrop... ORPHA:3085
Microphthalmia, Syndromic 3
Optic nerve aplasia, Micropenis, Hypogonadotropic hypogonadism, Hypospadias, Optic nerve hypoplas... OMIM:206900
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Decreased circulating cortisol level, Male pseudohermaphrod... ORPHA:90790
Persistent Hyperplastic Primary Vitreous
Remnants of the hyaloid vascular system, Corneal opacity, Microphthalmia, Shallow anterior chambe... ORPHA:91495
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Anencephaly 2
Anophthalmia OMIM:619452
Lymphoid Interstitial Pneumonia
Pulmonary venous hypertension, Hepatomegaly, Subpleural interstitial thickening, Hypoxemia, Rayna... ORPHA:79128
Aniridia-Absent Patella Syndrome
Cryptorchidism, Aniridia, Cataract ORPHA:1069
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure OMIM:613845
Transient ischemic attack, Intestinal bleeding, Raynaud phenomenon, Right ventricular failure, My... ORPHA:801
Mccune-Albright Syndrome
Increased serum testosterone level, Precocious puberty, Abnormal endocrine physiology, Abnormalit... ORPHA:562
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Aniridia 2
Lens subluxation, Optic atrophy, Iris coloboma, Cataract, Aniridia OMIM:617141
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Microphthalmia, Sclerocornea OMIM:269400
Retinitis Pigmentosa 84
Macular coloboma, Cataract, Macular atrophy OMIM:618220
Geleophysic Dysplasia 2
Mitral stenosis, Aortic valve stenosis, Hepatomegaly, Tricuspid stenosis, Mitral regurgitation, R... OMIM:614185
Brain-Lung-Thyroid Syndrome
Respiratory distress, Asthma, Abnormal cardiac septum morphology, Atrial septal defect, Recurrent... ORPHA:209905
19P13.3 Microduplication Syndrome
Ventricular septal defect, Pulmonary arterial hypertension ORPHA:447980
Systemic Sclerosis
Telangiectasia, Intestinal bleeding, Raynaud phenomenon, Right ventricular failure, Myocarditis, ... ORPHA:90291
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Peripapillary atrophy, Cataract, Macular degeneration OMIM:618195
Aniridia-Intellectual Disability Syndrome
Optic nerve hypoplasia, Aniridia, Ectopia lentis, Cataract ORPHA:1068
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Sudden cardiac death, Tachycardia, Cardiomegaly, Ventricular septal defect, Dilated... OMIM:614921
Retinopathy, Pigmentary, And Mental Retardation
Cataract, Pigmentary retinopathy, Hypogonadism OMIM:268050
Diffuse Alveolar Hemorrhage
Airway obstruction, Pulmonary venous hypertension, Increased DLCO, Irregular septal thickening on... ORPHA:90060
Poems Syndrome
Visceromegaly, Pleural effusion, Restrictive ventilatory defect, Pulmonary arterial hypertension,... ORPHA:2905
Cirrhosis, Familial
Hypertension, Pulmonary arterial hypertension OMIM:215600
Telangiectasia of the skin, Lung adenocarcinoma, Sinus tachycardia, Recurrent respiratory infecti... ORPHA:221
46,Xy Sex Reversal 10
Sex reversal, Micropenis, Ambiguous genitalia, Dysgerminoma, Decreased testicular size, Gonadobla... OMIM:616425
Adams-Oliver Syndrome
Abnormal pulmonary valve morphology, Tetralogy of Fallot, Pulmonary artery atresia, Portal hypert... ORPHA:974
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Cerebrooculonasal Syndrome
Anophthalmia, Hypoplasia of penis ORPHA:66625
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Abnormal heart morphology, Airway obstruction, Atrial septal defect, Tricus... ORPHA:505248
Aromatase Deficiency
Female infertility, Ambiguous genitalia, female, Type II diabetes mellitus, Hypergonadotropic hyp... ORPHA:91
Meckel Syndrome
Urethral atresia, Pancreatic fibrosis, Male pseudohermaphroditism, Anophthalmia, Microcornea, Opt... ORPHA:564
Dystonia 26, Myoclonic
Depression, Anxiety OMIM:616398
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism ORPHA:324410
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Gaucher Disease Type 1
Hepatomegaly, Splenomegaly, Abnormal pulmonary interstitial morphology, Abnormal myocardium morph... ORPHA:77259
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Microphthalmia,... ORPHA:83461
17Q23.1Q23.2 Microdeletion Syndrome
Dyspnea, Pulmonary arterial hypertension, Patent ductus arteriosus, Atrial septal defect ORPHA:261279
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Corneal opacity, Shallow anterior chamber, Buphthalmos, ... OMIM:221900
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Respiratory insufficiency, Arrhythmia, Recurrent lower respiratory tract infections, Reduced left... ORPHA:258
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Lens subluxation, Cataract OMIM:614292
Trisomy 1Q
Ambiguous genitalia, Cryptorchidism, Anophthalmia, Small scrotum ORPHA:261344
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Cataract OMIM:613730
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Ventricular septal defect, Alveolar capillary dysplasia, Pulmonary... OMIM:265380
Spastic Paraplegia Type 2
Pulmonary embolism, Recurrent respiratory infections ORPHA:99015
Osteogenesis Imperfecta, Type Iii
Pulmonary arterial hypertension OMIM:259420
Anophthalmia Plus Syndrome
Iris coloboma, Anophthalmia ORPHA:1104
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Pulmonary embolism ORPHA:745
Gaucher Disease Type 3
Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcification, Abnormal pulm... ORPHA:77261
Warburg Micro Syndrome 2
Hypoplastic labia majora, Micropenis, Microcornea, Optic atrophy, Cataract, Developmental catarac... OMIM:614225
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Microphthalmia OMIM:120433
Mucopolysaccharidosis, Type Vi
Mitral stenosis, Sleep apnea, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Mitral regurgi... OMIM:253200
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Retinal detachment, Optic disc pallor, Cataract, Microphthalmia OMIM:251270
Schimke Immunoosseous Dysplasia
Cerebral ischemia, Dyspnea, Transient ischemic attack, Pulmonary arterial hypertension, Hypertension OMIM:242900
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hypoxemia, Splenomegal... OMIM:181000
Cockayne Syndrome Type 1
Anophthalmia, Pigmentary retinopathy, Optic atrophy, Cataract, Male hypogonadism, Cryptorchidism,... ORPHA:90321
Laurence-Moon Syndrome
Type II diabetes mellitus, Hypoplasia of penis, Iris coloboma, Cataract, Displacement of the uret... ORPHA:2377
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Megalocornea, Anophthalmia, Corneal dystrophy, Cryptorchidism, Aniridia ORPHA:1101
Coloboma, Ocular, Autosomal Dominant
Remnants of the hyaloid vascular system, Corneal opacity, Optic disc coloboma, Peters anomaly, Mi... OMIM:120200
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Atrial septal defect, Splenomegaly, Pulmonic stenosis, Hepatosplenomegaly, Ventricu... OMIM:602782
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Secundum atrial septal defect, Splenomegaly, Pulmonic stenosis, Mitral regurgitatio... OMIM:612541
Schimke Immuno-Osseous Dysplasia
Cerebral ischemia, Ischemic stroke, Hypertension, Transient ischemic attack, Pulmonary arterial h... ORPHA:1830
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... OMIM:308700
Stickler Syndrome Type 2
Corneal opacity, Retinal detachment, Cataract ORPHA:90654
Solitary Median Maxillary Central Incisor
Decreased response to growth hormone stimulation test, Anophthalmia, Anterior hypopituitarism, Mi... OMIM:147250
Polycythemia Vera
Angina pectoris, Intermittent claudication, Budd-Chiari syndrome, Hepatomegaly, Splenomegaly, Res... ORPHA:729
Warburg Micro Syndrome 3
Shallow anterior chamber, Micropenis, Microcornea, Optic atrophy, Hypoplastic labia minora, Catar... OMIM:614222
Beta-Thalassemia Intermedia
High-output congestive heart failure, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Pulmonary a... ORPHA:231222
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Cataract, Microcornea OMIM:106230
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Increased pi... ORPHA:90674
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Microphthalmia, Poste... OMIM:610256
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria, Microphthalmia OMIM:257910
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Cataract, Hypogonadism OMIM:160900
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal detachment, Opacification of the ... OMIM:310600
Trisomy 20P
Hypospadias, Cryptorchidism, Macroorchidism ORPHA:261318
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonadotropic hypog... OMIM:308750
Cerebrooculofacioskeletal Syndrome 2
Micropenis, Cataract, Developmental cataract, Microphthalmia, Small scrotum OMIM:610756
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane ORPHA:1067
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy OMIM:180104
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... ORPHA:75565
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Pulmonary embolism ORPHA:743
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism OMIM:309520
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome
Hypoxemia, Pulmonary arterial hypertension, Patent ductus arteriosus, Recurrent respiratory infec... ORPHA:2282
3Q29 Microdeletion Syndrome
Subvalvular aortic stenosis, Pulmonary arterial hypertension, Patent ductus arteriosus ORPHA:65286
Isolated Aniridia
Peters anomaly, Aniridia, Aplasia/Hypoplasia of the macula, Cataract ORPHA:250923
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Retinal detachment, Cataract ORPHA:171844
49,Xxxyy Syndrome
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... ORPHA:261534
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect, Hypoplastic left heart, Pulmo... OMIM:100300
Vacterl With Hydrocephalus
Anophthalmia, Microcornea, Abnormal fallopian tube morphology, Microphthalmia, Cryptorchidism ORPHA:3412
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Wolfram Syndrome 1
Testicular atrophy, Pigmentary retinopathy, Hypothyroidism, Optic atrophy, Cataract, Diabetes mel... OMIM:222300
Nestor-Guillermo Progeria Syndrome
Right atrial enlargement, Mitral regurgitation, Left atrial enlargement, Right bundle branch bloc... OMIM:614008
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Ventricular septal defect, Pulmonary artery hypoplasia, Pulmonary hypoplasia, Neona... OMIM:620025
X-Linked Intellectual Disability, Nascimento Type
Mitral stenosis, Double outlet right ventricle, Peripheral pulmonary artery stenosis, Tetralogy o... ORPHA:163956
Hereditary Bullous Dystrophy, Macular Type
Corneal opacity, External genital hypoplasia, Cataract, Decreased testicular size, Cryptorchidism ORPHA:1867
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Microphthalmia With Linear Skin Defects Syndrome
Corneal opacity, Abnormality of retinal pigmentation, Microphthalmia, Abnormal penis morphology, ... ORPHA:2556
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Cataract, Corneal guttata OMIM:193230
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Subdural hemorrhage, Hepatomegaly, Hemothorax, Myocarditis, Bundle branch... ORPHA:99827
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Pulmonary embolism, Arrhythmia ORPHA:624
Fg Syndrome Type 1
Mitral valve prolapse, Pulmonary arterial hypertension, Atrial septal defect ORPHA:93932
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Bicornuate uterus, Anophthalmia, Bilateral microphthalmos, Cryptorchidism OMIM:601186
Glycogen Storage Disease Ic
Hypertension, Pulmonary arterial hypertension, Hepatomegaly, Spider hemangioma OMIM:232240
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Small scrotum, Abnormality of the hypothalamus-pituitary axis, Anophthalmia,... ORPHA:264200
49,Xyyyy Syndrome
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... ORPHA:99330
Hallermann-Streiff Syndrome
Tracheomalacia, Recurrent pneumonia, Hypertension, Telangiectasia, Pulmonary arterial hypertensio... OMIM:234100
Wolff-Parkinson-White syndrome, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... ORPHA:550
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Acute respiratory distress syndrome, Atrial septal defect, Respiratory insufficiency, Chronic lun... OMIM:620005
Microphthalmia With Limb Anomalies
Anophthalmia, Microphthalmia OMIM:206920
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... ORPHA:325124
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Elevated pulmonary artery pressure, Respiratory failure requiring assisted ventilation, Pulmonary... OMIM:619351
Ogden Syndrome
Apnea, Enlarged kidney, Ventricular septal defect, Pulmonary hypoplasia, Cardiomegaly, Torsade de... OMIM:300855
Carney Complex
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... ORPHA:1359
Microgastria-Limb Reduction Defects Association
Bicornuate uterus, Splenogonadal fusion, Anophthalmia, Absent gallbladder, Cryptorchidism OMIM:156810
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Pulmonary arterial hypertension, Atrial septal defect, Recurrent pneum... ORPHA:464738
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Incontinentia Pigmenti
Telangiectasia of the skin, Retinal hemorrhage, Cerebral ischemia, Pulmonary arterial hypertensio... ORPHA:464
Leber Congenital Amaurosis 8
Nummular pigmentation of the fundus, Pigmentary retinopathy, Keratoconus, Cataract, Macular coloboma OMIM:613835
Carey-Fineman-Ziter Syndrome 1
Abnormal cardiac septum morphology, Respiratory insufficiency, Pulmonary arterial hypertension OMIM:254940
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Subdural hemorrhage, Pulmonary embolism, Dilated cardiomyopathy, Pulmonary ... ORPHA:79282
Marshall-Smith Syndrome
Apnea, Airway obstruction, Atrial septal defect, Premature ventricular contraction, Aspiration pn... OMIM:602535
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Apnea, Hepatomegaly, Splenomegaly, Chronic rhinitis, Pulmona... ORPHA:667
Micro Syndrome
Abnormality of retinal pigmentation, Hypoplasia of penis, Retinal coloboma, Clitoral hypoplasia, ... ORPHA:2510
Stuve-Wiedemann Syndrome 1
Apnea, Respiratory insufficiency, Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia, Pu... OMIM:601559
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Optic disc coloboma ORPHA:35737
Hereditary Leiomyomatosis And Renal Cell Cancer
Vaginal neoplasm, Cataract, Uterine leiomyoma, Uterine leiomyosarcoma ORPHA:523
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Cryptorchidism, Micropenis, Optic nerve hy... OMIM:610829
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Hepatosplenomegaly, Recurrent upper respiratory tract infections, Renovascular hypertension, Pate... ORPHA:391487
15Q Overgrowth Syndrome
Mitral regurgitation, Pulmonary arterial hypertension, Tricuspid regurgitation ORPHA:314585
Nance-Horan Syndrome
Retinal detachment, Cataract, Microcornea, Microphthalmia ORPHA:627
Cataract 15, Multiple Types
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract OMIM:615274
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Budd-Chiari syndrome, Pulmonary embolism, Hepatomegaly, Pneumonia OMIM:226300
Cataract 47
Cataract, Microcornea OMIM:612018
Chromosome Xp11.3 Deletion Syndrome
Posterior subcapsular cataract, Pigmentary retinopathy, Optic atrophy, Cataract, Cryptorchidism OMIM:300578
Microphthalmia, Hypoplasia of penis, Panhypopituitarism, Anophthalmia, Anterior hypopituitarism, ... ORPHA:2162
Microphthalmia, Syndromic 2
Adrenal insufficiency, Remnants of the hyaloid vascular system, Hypospadias, Retinal detachment, ... OMIM:300166
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Peripheral pulmonary artery stenosis, Atrial septal defect, Right ventricular hypertrophy, Recurr... ORPHA:280633
Hutchinson-Gilford Progeria Syndrome
Angina pectoris, Abnormal mitral valve morphology, Myocardial infarction, Ventricular hypertrophy... ORPHA:740
Gaucher Disease
Aortic valve calcification, Hepatomegaly, Abnormal pericardium morphology, Splenomegaly, Respirat... ORPHA:355
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Atrial septal defect, Atrioventricular canal defect, Third degree atrioventricular ... OMIM:619573
Cerebrooculonasal Syndrome
Optic nerve hypoplasia, Iris coloboma, Anophthalmia, Hypoplastic male external genitalia OMIM:605627
Proboscis Lateralis
Corneal opacity, External genital hypoplasia, Optic nerve hypoplasia, Anophthalmia, Microcornea, ... ORPHA:141099
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Hepatomegaly, Tricuspid regurgitation, Right ventricular hypertrophy, A... ORPHA:1677
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Abnormal heart morphology, Asthma, Sleep apnea, Tracheomalacia, Aspiration pneumonia, Chronic lun... ORPHA:444077
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Tetraamelia-Multiple Malformations Syndrome
Microcornea, Optic atrophy, Iris coloboma, Cataract, Septo-optic dysplasia, Microphthalmia, Vagin... ORPHA:3301
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Proteus Syndrome
Abnormality of retinal pigmentation, Ovarian neoplasm, Central heterochromia, Buphthalmos, Neopla... ORPHA:744
Hemochromatosis, Type 1
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Diabetes mellitus, Azoo... OMIM:235200
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract OMIM:216820
Kapur-Toriello Syndrome
Micropenis, Retinal coloboma, Iris coloboma, Cataract, Microphthalmia, Cryptorchidism, Hypoplasti... OMIM:244300
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Bacterial endocarditis, Aortic valve calcification, Splenomegaly, Hepatosplenomegaly, Mitral valv... ORPHA:2072
Encephalocraniocutaneous Lipomatosis
Tricuspid valve prolapse, Pulmonary arterial hypertension, Aortic valve stenosis ORPHA:2396
Pierson Syndrome
Remnants of the hyaloid vascular system, Microphthalmia, Retinal detachment, Uveal ectropion, Ret... OMIM:609049
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system OMIM:165550
Charge Syndrome
Labial hypoplasia, Micropenis, Bifid scrotum, Hypogonadotropic hypogonadism, Abnormality of the a... ORPHA:138
Melnick-Needles Syndrome
Tricuspid valve prolapse, Mitral valve prolapse, Pulmonary arterial hypertension, Recurrent respi... OMIM:309350
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Microphthalmia, Retinal detachment, Cataract, Leukocoria ORPHA:2714
Lysosomal Acid Lipase Deficiency
Hypovolemia, Hepatosplenomegaly, Pulmonary arterial hypertension, Hypotension ORPHA:275761
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Mitral stenosis, Aortic valve stenosis, Tricuspid regurgitation, Tricuspid stenosis, Pulmonic ste... OMIM:143095
Degcags Syndrome
Asthma, Rhinitis, Hepatomegaly, Atrial septal defect, Tracheomalacia, Pulmonic stenosis, Dysplast... OMIM:619488
Fontaine Progeroid Syndrome
Bicuspid aortic valve, Atrial septal defect, Tricuspid regurgitation, Left ventricular hypertroph... OMIM:612289
Idiopathic Steroid-Resistant Nephrotic Syndrome
Pulmonary embolism, Respiratory tract infection ORPHA:567548
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Abnormality of retinal pigmentation, Retinal detachment, Anophthalmia, Optic atrophy, Cataract, M... ORPHA:2526
Aniridia 1
Corneal neovascularization, Optic nerve hypoplasia, Ectopia pupillae, Opacification of the cornea... OMIM:106210
Schwartz-Jampel Syndrome
Apnea, Respiratory insufficiency, Pulmonary arterial hypertension, Arrhythmia ORPHA:800
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatomegaly, Atrioventricular canal defect, Ventricular septal defect, Cor triatriatum, Cardiac ... OMIM:619534
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary amenorrhea, Cat... OMIM:157640
Fraser Syndrome
Abnormal vagina morphology, Urethral atresia, Hypoplasia of penis, Bicornuate uterus, Hypospadias... ORPHA:2052
Fraser Syndrome 1
Corneal opacity, Bicornuate uterus, Micropenis, Hypospadias, Anophthalmia, Abnormality of the thy... OMIM:219000
Ctcf-Related Neurodevelopmental Disorder
Atrial septal defect, Mitral regurgitation, Pulmonary hemorrhage, Chronic lung disease, Recurrent... ORPHA:363611
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal detachment, Peters anoma... OMIM:614643
Xeroderma Pigmentosum, Complementation Group B
Pigmentary retinopathy, Optic atrophy, Cataract, Microphthalmia, Hypogonadism OMIM:610651
Oculoauricular Syndrome
Microphakia, Microphthalmia, Retinal coloboma, Retinal detachment, Posterior embryotoxon, Microco... OMIM:612109
Tessadori-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Macroorchidism OMIM:619950
Charge Syndrome
Hypoparathyroidism, Labial hypoplasia, Microphthalmia, External genital hypoplasia, Decreased res... OMIM:214800
Fibular Hemimelia
Abnormal anterior chamber morphology, Anophthalmia ORPHA:93323
Generalized Arterial Calcification Of Infancy
Respiratory distress, Cyanosis, Weak pulse, Retinal hemorrhage, Pericardial effusion, Left ventri... ORPHA:51608
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Decreased circulating al... ORPHA:3453
Polycystic Kidney, Cataract, And Congenital Blindness
Hypoplasia of the retina, Microcoria, Cataract OMIM:263100
Focal Dermal Hypoplasia
Labial hypoplasia, Supernumerary nipple, Anophthalmia, Clitoral hypoplasia, Hypoplastic nipples, ... OMIM:305600
Osteopetrosis With Renal Tubular Acidosis
Pulmonary arterial hypertension, Hepatomegaly, Obstructive sleep apnea ORPHA:2785
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Pulmonary arteriovenous malformation, Spontaneous pneumothorax, Pleural ... OMIM:606721
Microphthalmia, Syndromic 6
Cryptorchidism, Abnormality of the hypothalamus-pituitary axis, Anophthalmia, Anterior hypopituit... OMIM:607932
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome
Corneal opacity, Cataract, Decreased testicular size, Hypoplastic female external genitalia, Anir... OMIM:612469
Juvenile Polyposis Syndrome
Mucosal telangiectasiae, Extrahepatic portal hypertension, Pulmonary arteriovenous malformation, ... ORPHA:2929
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Atrial septal defect, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Ventricular ... ORPHA:96334
Blau Syndrome
Splenomegaly, Large vessel vasculitis, Dyspnea, Pericarditis, Pulmonary arterial hypertension, Hy... ORPHA:90340
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Hypoparathyroidism, Decreased circulating aldosterone level, Adrenal insufficienc... OMIM:240300
Norrie Disease
Remnants of the hyaloid vascular system, Corneal opacity, Microphthalmia, Abnormal pupil morpholo... ORPHA:649
Aarskog-Scott Syndrome
Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism, Elevated circulat... OMIM:305400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Corneal opacity, Buphthalmos, Optic nerve hypoplasia, Retinal detachment, Megalocornea, Optic atr... OMIM:236670
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Yunis-Varon Syndrome
Atrial septal defect, Tetralogy of Fallot, Renovascular hypertension, Ventricular septal defect, ... ORPHA:3472
Microgastria-Limb Reduction Defect Syndrome
Rectovaginal fistula, Anophthalmia, Perineal fistula, Microphthalmia ORPHA:2538
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Pulmonary embolism, Respiratory tract infection, Pleural effusion, Dyspnea, Hypertension ORPHA:567546
Tetrasomy 9P
Abnormal mitral valve morphology, Abnormal cardiac septum morphology, Raynaud phenomenon, Dextroc... ORPHA:3310
Hepatosplenomegaly, Pulmonary arterial hypertension, Atrial septal dilatation ORPHA:263508
Cataract 5, Multiple Types
Nuclear cataract, Zonular cataract, Anterior polar cataract, Lamellar cataract, Pulverulent cataract OMIM:116800
17Q11 Microdeletion Syndrome
Telangiectasia of the skin, Hypertrophic cardiomyopathy, Pulmonic stenosis, Renovascular hyperten... ORPHA:97685
Cataract, Macroorchidism OMIM:208400
Linear Skin Defects With Multiple Congenital Anomalies 1
Chordee, Hypoplasia of the uterus, Micropenis, Hypospadias, Ovotestis, Pigmentary retinopathy, Pe... OMIM:309801
Symptomatic Form Of Hemochromatosis Type 1
Amenorrhea, Infertility, Testicular atrophy, Decreased serum testosterone concentration, Hypogona... ORPHA:465508
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Asthma, Supraventricular arrhythmia, Vasculitis in the skin, Raynaud phenom... ORPHA:3260
Viss Syndrome
Double outlet right ventricle, Asthma, Atrial septal defect, Right ventricular hypertrophy, Pulmo... OMIM:619472
Branchiooculofacial Syndrome
Supernumerary nipple, Retinal coloboma, Hypospadias, Anophthalmia, Iris coloboma, Cataract, Micro... OMIM:113620
48,Xxxy Syndrome
Asthma, Pulmonary embolism, Recurrent respiratory infections ORPHA:96263
49,Xxxxy Syndrome
Asthma, Pulmonary embolism, Recurrent respiratory infections ORPHA:96264
Behçet Disease
Splenomegaly, Mitral regurgitation, Pulmonary embolism, Endocarditis, Vasculitis, Cerebral ischem... ORPHA:117
Bosma Arhinia Microphthalmia Syndrome
Micropenis, Hypogonadotropic hypogonadism, Hypospadias, Primary amenorrhea, Cataract, Microphthal... OMIM:603457
Microphthalmia With Limb Anomalies
Optic atrophy, Cryptorchidism, True anophthalmia, Microphthalmia ORPHA:1106
Classic Homocystinuria
Hepatomegaly, Intracranial hemorrhage, Pulmonary embolism, Cerebral ischemia, Gastrointestinal he... ORPHA:394
Joubert Syndrome 21
Anophthalmia OMIM:615636
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Temporal optic disc pallor, Cataract, Anisocoria OMIM:619649
Angioosteohypertrophic Syndrome
Tricuspid valve prolapse, Telangiectasia of the skin, Pulmonary embolism, Gastrointestinal hemorr... ORPHA:2346
Dehydrated Hereditary Stomatocytosis
Pulmonary venous hypertension, Splenomegaly ORPHA:3202
Neuroleptic Malignant Syndrome
Aspiration pneumonia, Tachycardia, Pulmonary embolism, Arrhythmia, Hypotension, Hypertensive cris... ORPHA:94093
Sturge-Weber Syndrome
Conjunctival telangiectasia, Pulmonary embolism ORPHA:3205
Macroorchidism ORPHA:93
Microphthalmia, Syndromic 1
Hypospadias, Anophthalmia, Microcornea, Optic disc coloboma, Iris coloboma, Microphthalmia, Cilia... OMIM:309800
Familial Chylomicronemia Syndrome
Hepatosplenomegaly, Pulmonary embolism ORPHA:444490
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Yunis-Varon Syndrome
Aspiration pneumonia, Tetralogy of Fallot, Heart murmur, Ventricular septal defect, Patent forame... OMIM:216340
Tetraamelia Syndrome 1
Urethral atresia, Absent external genitalia, Hypoplasia of the fallopian tube, Cataract, Micropht... OMIM:273395
Alström Syndrome
Respiratory distress, Myocardial fibrosis, Hepatomegaly, Chronic pulmonary obstruction, Chronic b... ORPHA:64
Neuroocular Syndrome
Remnants of the hyaloid vascular system, Blue irides, Stellate iris, Hypoplasia of the fovea, Mic... OMIM:619539
Steinert Myotonic Dystrophy
Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Impotence, Hyperinsulinemia, D... ORPHA:273
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Abnormality of the Leydig cells, Testicular atrophy, Cryptorchidism ORPHA:3063
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Pulmonary venous hypertension, Hepatomegaly, Enlarged kidney, Hypertension, Epistaxis ORPHA:79259
Neurofibromatosis Type 2
Cortical cataract, Remnants of the hyaloid vascular system, Posterior subcapsular cataract ORPHA:637
Paroxysmal Nocturnal Hemoglobinuria